Sample records for early onset scoliosis

  1. Intraspinal anomalies in early-onset idiopathic scoliosis.

    PubMed

    Pereira, E A C; Oxenham, M; Lam, K S

    2017-06-01

    In the United Kingdom, lower incidences of intraspinal abnormalities in patients with early onset idiopathic scoliosis have been observed than in studies in other countries. We aimed to determine the rates of these abnormalities in United Kingdom patients diagnosed with idiopathic scoliosis before the age of 11 years. This retrospective study of patients attending an urban scoliosis clinic identified 71 patients satisfying a criteria of: clinical diagnosis of idiopathic scoliosis; age of onset ten years and 11 months or less; MRI screening for intraspinal abnormalities. United Kingdom census data combined with patient referral data was used to calculate incidence. Mean age at diagnosis was six years with 39 right-sided and 32 left-sided curves. Four patients (5.6%) were found to have intraspinal abnormalities on MRI. These consisted of: two combined Arnold-Chiari type 1 malformations with syrinx; one syrinx with a low lying conus; and one isolated syrinx. Overall annual incidence of early onset idiopathic scoliosis was one out of 182 000 (0.0006%). This study reports the lowest rates to date of intraspinal anomalies in patients with early onset idiopathic scoliosis, adding to knowledge regarding current incidences of these abnormalities as well as any geographical variation in the nature of the disease. Cite this article: Bone Joint J 2017;99-B:829-33. ©2017 The British Editorial Society of Bone & Joint Surgery.

  2. Early-onset scoliosis: current treatment.

    PubMed

    Cunin, V

    2015-02-01

    Early-onset scoliosis, which appears before the age of 10, can be due to congenital vertebral anomalies, neuromuscular diseases, scoliosis-associated syndromes, or idiopathic causes. It can have serious consequences for lung development and significantly reduce the life expectancy compared to adolescent scoliosis. Extended posterior fusion must be avoided to prevent the crankshaft phenomenon, uneven growth of the trunk and especially restrictive lung disease. Conservative (non-surgical) treatment is used first. If this fails, fusionless surgery can be performed to delay the final fusion procedure until the patient is older. The gold standard delaying surgical treatment is the implantation of growing rods as described by Moe and colleagues in the mid-1980s. These rods, which are lengthened during short surgical procedures at regular intervals, curb the scoliosis progression until the patient reaches an age where fusion can be performed. Knowledge of this technique and its complications has led to several mechanical improvements being made, namely use of rods that can be distracted magnetically on an outpatient basis, without the need for anesthesia. Devices based on the same principle have been designed that preferentially attach to the ribs to specifically address chest wall and spine dysplasia. The second category of surgical devices consists of rods used to guide spinal growth that do not require repeated surgical procedures. The third type of fusionless surgical treatment involves slowing the growth of the scoliosis convexity to help reduce the Cobb angle. The indications are constantly changing. Improvements in surgical techniques and greater surgeon experience may help to reduce the number of complications and make this lengthy treatment acceptable to patients and their family. Long-term effects of surgery on the Cobb angle have not been compared to those involving conservative "delaying" treatments. Because the latter has fewer complications associated with

  3. Mothers' experience of caring for a child with early onset scoliosis: A qualitative descriptive study.

    PubMed

    Lauder, Bonnie; Sinclair, Peter M; Maguire, Jane

    2018-04-01

    This study aimed to identify and describe the experience of parents of children diagnosed with early onset scoliosis living in Australia. Chronic childhood disease has a major impact on health-related quality of life. Caring for a child with a chronic illness is well documented but the specific experiences of parents who care for children with early onset scoliosis, a rare but devastating illness, has not been explored. Numerous studies have described the interrelated psychological, financial, social, physical and logistical factors that impact the experience of the caregiver role with various diseases, but in the case of early onset scoliosis, limited studies have been conducted about the parental experience. A qualitative descriptive design was used. A snowball sampling technique assisted in the recruitment. Parents invited to the study included mothers, fathers and guardians. Data were collected through semistructured interviews and transcribed verbatim. Transcripts were analysed thematically. Data collection complied with the Consolidated criteria for reporting qualitative research guidelines. Twelve mothers of children with early onset scoliosis were interviewed, as only mothers consented to participate. Four major themes emerged: emotional rollercoaster ride, a lack of resources, money talks and pervasive burden. Factors that impacted on the participants' ability to confront, manage and endure caring for a child with early onset scoliosis emerged from the data. The findings suggest there are multiple factors that influence the experience of mothers' caring for a child with early onset scoliosis. The recognition and appropriate management of these factors by healthcare professionals have the potential to improve the quality of life of parents who care for a child with early onset scoliosis. Healthcare professionals have first-line contact with parents of children with early onset scoliosis and are well placed to provide parents with evidence-based education

  4. Development and initial validation of the Classification of Early-Onset Scoliosis (C-EOS).

    PubMed

    Williams, Brendan A; Matsumoto, Hiroko; McCalla, Daren J; Akbarnia, Behrooz A; Blakemore, Laurel C; Betz, Randal R; Flynn, John M; Johnston, Charles E; McCarthy, Richard E; Roye, David P; Skaggs, David L; Smith, John T; Snyder, Brian D; Sponseller, Paul D; Sturm, Peter F; Thompson, George H; Yazici, Muharrem; Vitale, Michael G

    2014-08-20

    Early-onset scoliosis is a heterogeneous condition, with highly variable manifestations and natural history. No standardized classification system exists to describe and group patients, to guide optimal care, or to prognosticate outcomes within this population. A classification system for early-onset scoliosis is thus a necessary prerequisite to the timely evolution of care of these patients. Fifteen experienced surgeons participated in a nominal group technique designed to achieve a consensus-based classification system for early-onset scoliosis. A comprehensive list of factors important in managing early-onset scoliosis was generated using a standardized literature review, semi-structured interviews, and open forum discussion. Three group meetings and two rounds of surveying guided the selection of classification components, subgroupings, and cut-points. Initial validation of the system was conducted using an interobserver reliability assessment based on the classification of a series of thirty cases. Nominal group technique was used to identify three core variables (major curve angle, etiology, and kyphosis) with high group content validity scores. Age and curve progression ranked slightly lower. Participants evaluated the cases of thirty patients with early-onset scoliosis for reliability testing. The mean kappa value for etiology (0.64) was substantial, while the mean kappa values for major curve angle (0.95) and kyphosis (0.93) indicated almost perfect agreement. The final classification consisted of a continuous age prefix, etiology (congenital or structural, neuromuscular, syndromic, and idiopathic), major curve angle (1, 2, 3, or 4), and kyphosis (-, N, or +) variables, and an optional progression modifier (P0, P1, or P2). Utilizing formal consensus-building methods in a large group of surgeons experienced in treating early-onset scoliosis, a novel classification system for early-onset scoliosis was developed with all core components demonstrating

  5. [Treatment of early onset scoliosis : How far can we go?].

    PubMed

    Studer, D; Hasler, C C; Schulze, A

    2015-11-01

    Recently, inconsistent definitions of early onset scoliosis (EOS) and a wide variety of treatment options have been observed. To clearly define the term EOS, to depict non-operative and operative treatment options, and to present the limitations of the boundaries of these techniques. Review of the literature, including conference presentations and expert opinions, in addition to personal experiences. Early onset scoliosis (EOS) refers to spine deformity that is present before 10 years of age, regardless of etiology. All existing operative treatment options share a high risk of complications. Therefore, non-operative treatment should act as a time-buying approach to postpone surgery. Awareness of treatment options and their specific indications, in addition to respecting each patient's individual needs and feasibilities, are crucial for the optimal outcome.

  6. Genomic Analyses of Patients With Unexplained Early-Onset Scoliosis.

    PubMed

    Gao, Xiaochong; Gotway, Garrett; Rathjen, Karl; Johnston, Charles; Sparagana, Steven; Wise, Carol A

    2014-09-01

    To test for rare genetic mutations, a cohort of patients with unexplained early-onset scoliosis (EOS) was screened using high-density microarray genotyping. A cohort of patients with adolescent idiopathic scoliosis (AIS) was similarly screened and the results were compared. Patients with scoliosis in infancy or early childhood (EOS) are at high risk for progressive deformity and associated problems including respiratory compromise. Early-onset scoliosis is frequently associated with genetic disorders but many patients present with nonspecific clinical features and without an associated diagnosis. The authors hypothesized that EOS in these patients may be caused by rare genetic mutations detectable by next-generation genomic methods. The researchers identified 24 patients with unexplained EOS from pediatric orthopedic clinics. They genotyped them, along with 39 connecting family members, using the Illumina OmniExpress-12, version 1.0 beadchip. Resulting genotypes were analyzed for chromosomal changes, specifically copy number variation and absence of heterozygosity. They screened 482 adolescent idiopathic scoliosis (AIS) patients and 744 healthy controls, who were similarly genotyped with the same beadchip, for chromosomal changes identified in the EOS cohort. Copy number variation and absence of heterozygosity analyses revealed a genetic diagnosis of chromosome 15q24 microdeletion syndrome in 1 patient and maternal uniparental disomy of chromosome 14 in a second one. Prior genetic testing and clinical evaluations had been negative in both cases. A large novel chromosome 10 deletion was likely causal in a third EOS patient. These mutations identified in the EOS patients were absent in AIS patients and controls, and thus were not associated with AIS or found in asymptomatic individuals. These data underscore the usefulness of updated genetic evaluations including high-density microarray-based genotyping and other next-generation methods in patients with unexplained

  7. Functional and Radiographic Outcomes Following Growth-Sparing Management of Early-Onset Scoliosis.

    PubMed

    Johnston, Charles E; Tran, Dong-Phuong; McClung, Anna

    2017-06-21

    In this study, we sought to evaluate radiographic, functional, and quality-of-life outcomes of patients who have completed growth-sparing management of early-onset scoliosis. This prospective study involved patients with early-onset scoliosis who underwent growth-sparing treatment and either "final" fusion or observation for ≥2 years since the last lengthening procedure. Demographics, radiographic parameters, pulmonary function test (PFT) values, and scores of patient-reported assessments (Early-Onset Scoliosis Questionnaire [EOSQ] and Scoliosis Research Society [SRS]-30) were obtained. At the most recent follow-up, patients performed 2 additional functional outcome tests: step-activity monitoring and a treadmill exercise-tolerance test. Twelve patients were evaluated as "graduates" of growth-sparing management of early-onset scoliosis (mean of 37 months since the most recent surgery). The major scoliosis curve measurement averaged 88° before treatment and 47° at the most recent follow-up. T1-S1 height increased from a mean of 22.3 cm to 34.7 cm and T1-T12 height, from 13.3 to 22.3 cm. At the most recent follow-up, the mean forced expiratory volume in 1 second (FEV1) and forced vital capacity (FVC) as a percentage of the predicted volume were 52.1% and 55.3%, respectively, and were essentially unchanged from the earliest PFT that patients could perform (FEV1 = 53.8% of predicted and FVC = 53.5% of predicted). There was no difference between graduates and controls with respect to activity time or total steps in step-activity monitoring, and in the exercise-tolerance test, graduates walked at the same speed but at a higher heart rate and at a significantly higher (p <0.001) VO2 cost (rate of oxygen consumed per distance traveled). The EOSQ mean score was 102.2 of a possible 120 points, and the SRS mean score was 4.1 of a possible 5 points. A realistic long-term goal for the management of early-onset scoliosis appears to be spine elongation and maintenance of

  8. Growing rod erosion through the lamina causing spinal cord compression in an 8-year-old girl with early-onset scoliosis.

    PubMed

    Abduljabbar, Fahad H; Waly, Feras; Nooh, Anas; Ouellet, Jean

    2016-09-01

    Early-onset scoliosis often occurs by the age of 5 years and is attributed to many structural abnormalities. Syndromic early-onset scoliosis is considered one of the most aggressive types of early-onset scoliosis. Treatment starts with serial casting and bracing, but eventually most of these patients undergo growth-sparing procedures, such as a single growing rod, dual growing rods, or a vertical expandable titanium prosthetic rib. This case report aimed to describe an unusual complication of erosion of a growing rod through the lamina that caused spinal cord compression in an 8-year-old girl with early-onset scoliosis. This is a case report. A retrospective chart review was used to describe the clinical course and radiographic findings of this case after rod erosion into the spinal canal. The patient underwent successful revision surgery removing the rod without neurologic complications. Patients with syndromic early-onset scoliosis are more prone to progressive curves and severe rotational deformity. We believe that the severe kyphotic deformity in addition to the dysplastic nature of the deformity in this population may predispose them to this unusual complication. Copyright © 2016 Elsevier Inc. All rights reserved.

  9. [Early onset scoliosis. What are the options?].

    PubMed

    Farrington, D M; Tatay-Díaz, A

    2013-01-01

    The prognosis of children with progressive early onset scoliosis has improved considerably due to recent advances in surgical and non-surgical techniques and the understanding of the importance of preserving the thoracic space. Improvements in existing techniques and development of new methods have considerably improved the management of this condition. Derotational casting can be considered in children with documented progression of a <60° curve without previous surgical treatment. Both single and dual growing rods are effective, but the latter seem to offer better results. Hybrid constructs may be a better option in children who require a low-profile proximal anchor. The vertical expandable prosthetic titanium rib (VEPTR(®)) appears to be beneficial for patients with congenital scoliosis and fused ribs, and thoracic Insufficiency Syndrome. Children with medical comorbidities who may not tolerate repeated lengthenings should be considered for Shilla or Luque Trolley technique. Growth modulation using shape memory alloy staples or other tethers seem promising for mild curves, although more research is required to define their precise indications. Copyright © 2013 SECOT. Published by Elsevier Espana. All rights reserved.

  10. Comparison of Growing Rod Instrumentation Versus Serial Cast Treatment for Early-Onset Scoliosis.

    PubMed

    Johnston, Charles E; McClung, Anna M; Thompson, George H; Poe-Kochert, Connie; Sanders, James O

    2013-09-01

    A comparison of 2 methods of early-onset scoliosis treatment using radiographic measures and complication rates. To determine whether a delaying tactic (serial casting) has comparable efficacy to a surgical method (insertion of growing rod instrumentation [GRI]) in the initial phase of early-onset deformity management. Serial casts are used in experienced centers to delay operative management of curves of surgical magnitude (greater than 50°) in children up to age 6 years. A total of 27 casted patients from 3 institutions were matched with 27 patients from a multicenter database according to age (within 6 months of each other), curve magnitude (within 10° of each other), and diagnosis. Outcomes were compared according to major curve magnitude, spine length (T1-S1), duration and number of treatment encounters, and complications. There was no difference in age (5.5 years) or initial curve magnitude (65°) between groups, which reflects the accuracy of the matching process. Six pairs of patients had neuromuscular diagnoses, 11 had idiopathic deformities, and 10 had syndromic scoliosis. Growing rod instrumentation patients had smaller curves (45.9° vs. 64.9°; p = .002) at follow-up, but there was no difference in absolute spine length (GRI = 32.0 cm; cast = 30.6 cm; p = .26), even though GRI patients had been under treatment for a longer duration (4.5 vs. 2.4 years; p < .0001) and had undergone a mean of 5.5 lengthenings compared with 4.0 casts. Growing rod instrumentation patients had a 44% complication rate, compared with 1 cast complication. Of 27 casted patients, 15 eventually had operative treatment after a mean delay of 1.7 years after casting. Cast treatment is a valuable delaying tactic for younger children with early-onset scoliosis. Spine deformity is adequately controlled, spine length is not compromised, and surgical complications associated with early GRI treatment are avoided. Copyright © 2013 Scoliosis Research Society. Published by Elsevier Inc

  11. Focused Molding Using Adhesive Pads in Mehta Casting for Early-Onset Scoliosis.

    PubMed

    Abraham, Roby; Sponseller, Paul D

    2014-11-01

    Prospective clinical series. To determine the effect of adhesive pads placed over the apex of scoliosis curves on curve correction 1) after the first cast and 2) after the final cast. Early-onset scoliosis is often effectively managed by serial casting. Properly localizing the apex of the molds with the cast in place is challenging. The authors explored the effectiveness of a novel technique: incorporation of adhesive pads placed over the major curve apex before Mehta casting. The 27 patients who received body casts (2000-2013) were divided into 2 groups: those without and with apical adhesive pads (5-6 layers of pads placed on the major curve's apex during casting): non-pad (NP) group (n = 12) and pad (P) group (n = 15), respectively. Groups were compared regarding the percentage of Cobb angle change from the first cast and curve correction to a Cobb angle of <25° with Student t and chi-square tests (significance was p < .05). The mean percentage of major first-cast curve correction was 39% ± 18% and 56% ± 17% in the NP and P groups, respectively. Of the 26 patients out of a cast, 11 (42%) had a Cobb angle of <25°: 3 (25%) and 8 (57%) in the NP and P groups, respectively. The mean differences between the 2 groups in percentage of major curve correction and this Cobb angle correction were significant: p = .023 and .005, respectively. Adhesive pads placed over major curve(s) during Mehta casting were effective in increasing the amount of major curve correction from the first cast for idiopathic early-onset scoliosis and in decreasing curves to <25° at final follow-up. Copyright © 2014 Scoliosis Research Society. Published by Elsevier Inc. All rights reserved.

  12. Serial elongation-derotation-flexion casting for children with early-onset scoliosis.

    PubMed

    Canavese, Federico; Samba, Antoine; Dimeglio, Alain; Mansour, Mounira; Rousset, Marie

    2015-12-18

    Various early-onset spinal deformities, particularly infantile and juvenile scoliosis (JS), still pose challenges to pediatric orthopedic surgeons. The ideal treatment of these deformities has yet to emerge, as both clinicians and surgeons still face multiple challenges including preservation of thoracic motion, spine and cage, and protection of cardiac and lung growth and function. Elongation-derotation-flexion (EDF) casting is a technique that uses a custom-made thoracolumbar cast based on a three-dimensional correction concept. EDF can control progression of the deformity and - in some cases-coax the initially-curved spine to grow straighter by acting simultaneously in the frontal, sagittal and coronal planes. Here we provide a comprehensive review of how infantile and JS can affect normal spine and thorax and how serial EDF casting can be used to manage these spinal deformities. A fresh review of the literature helps fully understand the principles of the serial EDF casting technique and the effectiveness of conservative treatment in patients with early-onset spinal deformities, particularly infantile and juvenile scolisois.

  13. Serial elongation-derotation-flexion casting for children with early-onset scoliosis

    PubMed Central

    Canavese, Federico; Samba, Antoine; Dimeglio, Alain; Mansour, Mounira; Rousset, Marie

    2015-01-01

    Various early-onset spinal deformities, particularly infantile and juvenile scoliosis (JS), still pose challenges to pediatric orthopedic surgeons. The ideal treatment of these deformities has yet to emerge, as both clinicians and surgeons still face multiple challenges including preservation of thoracic motion, spine and cage, and protection of cardiac and lung growth and function. Elongation-derotation-flexion (EDF) casting is a technique that uses a custom-made thoracolumbar cast based on a three-dimensional correction concept. EDF can control progression of the deformity and - in some cases-coax the initially-curved spine to grow straighter by acting simultaneously in the frontal, sagittal and coronal planes. Here we provide a comprehensive review of how infantile and JS can affect normal spine and thorax and how serial EDF casting can be used to manage these spinal deformities. A fresh review of the literature helps fully understand the principles of the serial EDF casting technique and the effectiveness of conservative treatment in patients with early-onset spinal deformities, particularly infantile and juvenile scolisois. PMID:26716089

  14. Detorsion night-time bracing for the treatment of early onset idiopathic scoliosis.

    PubMed

    Moreau, S; Lonjon, G; Mazda, K; Ilharreborde, B

    2014-12-01

    Management for early onset scoliosis has recently changed, with the development of new surgical procedures. However, multiple surgeries are often required and high complication rates are still reported. Conservative management remains an alternative, serial casting achieving excellent results in young children. Better compliance and improvement over natural history have been reported with night-time bracing in adolescent idiopathic scoliosis (AIS), but this treatment has never been reported in early onset idiopathic scoliosis (EIOS). All patients treated for progressive EOIS by detorsion night-time bracing (DNB), and meeting the Scoliosis Research Society (SRS) criteria for brace studies were reviewed. Recommendations were given to wear the DNB 8h/night and no restriction was given regarding sports activities. Radiological parameters were compared between referral and latest follow-up. Based on the SRS criteria defined for AIS, a similar classification was used as follows to analyze the course of the curves: success group: patients with a progression of 5° or less; unsuccess group (progression or failure): patients with a progression>5°, patients with curves exceeding 45° at maturity, or who have had recommendation for/undergone surgery, or patients who changed orthopaedic treatment, or who were lost to follow-up. Thirty-three patients were included (21 girls and 12 boys), with a median Cobb angle of 31° (Q1-Q3: 22-40). Age at brace initiation averaged 50months (Q1-Q3: 25-60). Median follow-up was 102-months (Q1-Q3: 63-125). Fifteen patients (45.5%) had reached skeletal maturity at last follow-up. The success rate was 67% (22 patients), with a median Cobb angle reduction of 15° (P<0.001). Four patients stopped DNB due to an important regression. Eleven patients were in the unsuccessful group (33%). Only one had surgery. All patients remained balanced in the frontal plane and normokyphotic. Initial curve magnitude and age at brace initiation appeared to be

  15. Ultrasound control of magnet growing rod distraction in early onset scoliosis.

    PubMed

    Pérez Cervera, T; Lirola Criado, J F; Farrington Rueda, D M

    2016-01-01

    The growing rod technique is currently one of the most common procedures used in the management of early onset scoliosis. However, in order to preserve spine growth and control the deformity it requires frequent surgeries to distract the rods. Magnetically driven growing rods have recently been introduced with same treatment goal, but without the inconvenience of repeated surgical distractions. One of the limitations of this technical advance is an increase in radiation exposure due to the increase in distraction frequency compared to conventional growing rods. An improvement of the original technique is presented, proposing a solution to the inconvenience of multiple radiation exposure using ultrasound technology to control the distraction process of magnetically driven growing rods. Copyright © 2014 SECOT. Publicado por Elsevier España, S.L.U. All rights reserved.

  16. Complications of growth-sparing surgery in early onset scoliosis.

    PubMed

    Akbarnia, Behrooz A; Emans, John B

    2010-12-01

    Review of available literature, authors' opinion. To describe complications associated with growth-sparing surgical treatment of early onset scoliosis (EOS). EOS has many potential etiologies and is often associated with thoracic insufficiency syndrome. The growth of the spine, thorax, and lungs are interrelated, and severe EOS typically involves disturbance of the normal development of all 3. Severe EOS may be treated during growth with surgical techniques, intended to preserve growth while controlling deformity, the most common of which are spinal "growing rods" (GR) or "vertical expandable prosthetic titanium rib" (VEPTR). Although presently popular, there is minimal long-term data on the outcome of growth-sparing surgical techniques on EOS. Review. Potential adverse outcomes of GR or VEPTR treatment of EOS include failure to prevent progressive deformity or thoracic insufficiency syndrome, an unacceptably short or stiff spine or deformed thorax, increased family burden of care, and potentially negative psychological consequences from repeated surgical interventions. Neither technique reliably controls all deformity over the entirety of growth period. Infections are common to both GR and VEPTR. Rod breakage and spontaneous premature spinal fusion beneath rods are troublesome complications in GR, whereas drift of rib attachments and chest wall scarring are anticipated complications in VEPTR treatment. Indications for GR and VEPTR overlap, but thoracogenic scoliosis and severe upper thoracic kyphosis are best treated by VEPTR and GR, respectively. Surgeons planning treatment of EOS should anticipate the many complications common to growth-sparing surgery, share their knowledge with families, and use complications as one factor in the complex decision as to when and whether to initiate the repetitive surgeries associated with GR or VEPTR in the treatment of severe EOS.

  17. Early onset scoliosis with intraspinal anomalies: management with growing rod.

    PubMed

    Jayaswal, Arvind; Kandwal, Pankaj; Goswami, Ankur; Vijayaraghavan, G; Jariyal, Ashok; Upendra, B N; Gupta, Ankit

    2016-10-01

    To evaluate clinical and radiological outcomes of growing rod (GR) in the management of Early Onset Scoliosis (EOS) with intraspinal anomalies. The effect of repeated distractions following GR, in the presence of intraspinal anomalies has not been studied. During 2007-2012, 46 patients underwent fusionless surgery. Out of these 46 patients, 13 patients had one or more intraspinal anomalies. 11 patients had undergone prior neurosurgical procedure while 2 (filum terminale lipoma and syringomyelia) did not. A total of 88 procedures were conducted during the treatment period; 13 index surgeries, 74 distractions of GR and 1 unplanned surgery. The age at surgery was 6.8 ± 2.5 years (3.5-12 years). 11 patients had congenital scoliosis and 2 had idiopathic scoliosis. A total of 19 (41.30 %) intraspinal anomalies [Tethered Cord Syndrome (TCS) 08, Split Cord Malformation (SCM) 08, Syringomyelia 01, Meningomyelocele 01, Filum terminale Lipoma 01] were seen. The average lengthening procedures per patient were 5.7 (4-9) with distraction interval of 6.7 (6-7.25) months. Pre-operative Cobb angle was 78.50 ± 18.1 (54-114°) and improved to 53.10 ± 16.70 (36-84°) at final follow-up. A total of 15 complications related to implant (9), wound (2), anesthesia (2) and neurological (2) occurred in 7 patients. Among the two neurological complications, one patient sustained fall in the post-op period and reported to the emergency department with paraplegia and broken proximal screw. While other patient experienced MEP changes during index procedure. None of the patients had any neurological complications during repeated lengthening procedures. The most common cord anomalies associated with EOS in our study are TCS and SCM. Although presence of previous intraspinal anomaly does not seem to increase the incidence of neurological deficit, use of neuromonitoring is advisable for all index procedure and selected distractions. Level 4 (case series).

  18. Scoliosis (image)

    MedlinePlus

    Abnormal curvature in the spine is known as scoliosis, and generally begins just at the onset of ... growth. Most junior high schools routinely screen for scoliosis because, if caught early, progressive spine curvature can ...

  19. Progressive early-onset scoliosis in Conradi disease: a 34-year follow-up of surgical management.

    PubMed

    Kabirian, Nima; Hunt, Leonel A; Ganjavian, Mohammad S; Akbarnia, Behrooz A

    2013-03-01

    Conradi-Hunermann syndrome (CHS) is a rare metabolic syndrome with several orthopaedic problems. Early-onset scoliosis is of great importance because of often rapidly progressive nature and high risk of postoperative complications. To report the 34-year follow-up and outcome of a patient with CHS treated with combined anterior and posterior fusion without instrumentation. All available clinical and radiographs of a female patient with CHS retrospectively reviewed. Overall health status, sagittal and coronal deformity, pulmonary function test, and outcome questionnaires were evaluated. Initial films at the age of 4 months showed a curve of 37 degrees from T6-T11 and a curve of 17 degrees from T11-L2. Thoracic kyphosis was measured at 43 degrees. Standing films at the age of 2 years and 2 months showed progression of both the curves to 50 and 66 degrees, respectively, and a significant spinal imbalance. The kyphosis also progressed to 57 degrees. She underwent a staged anterior inlay graft spinal fusion with autograft and allograft ribs from T8-L1 and posterior in situ fusion from T6-L1 with corticocancellous allograft. Solid radiographic fusion was observed 18 months after surgery. She was 36 years old at her latest follow-up, 34 years after surgery, with neutral clinical coronal and sagittal balance. No significant pain and respiratory complaint at moderate sports and normal daily life activity. "Vital capacity" and "total lung capacity" were 65% and 75%, respectively, of the normal. Thoracic curve of 35 degrees (T6-T11) and right thoracolumbar curve of 53 degrees from T11-L2 with a solid fusion fromT6-L1 with kyphosis measured over the fused area of 40 degrees were observed. Her overall mean Scoliosis Research Society-22 score was 3.68. She is an MBA graduate from a competitive school and currently works full-time. Although the treatment of early-onset scoliosis has significantly evolved over the past 3 decades, the traditional method of anterior release and

  20. Growth-Friendly Surgery Is Effective at Treating Early-Onset Scoliosis Associated With Goldenhar Syndrome.

    PubMed

    Connell, Braydon; Oore, Jonathan J; Pahys, Joshua M; Thompson, George H; St Hilaire, Tricia; Flynn, Tara; El-Hawary, Ron

    To evaluate the radiographic results and complications of growth-friendly (GF) surgery in the treatment of early-onset scoliosis (EOS) associated with Goldenhar syndrome. Goldenhar syndrome has been associated with spinal deformity, which may be progressive. Efficacy and complication rate of GF treatment has not been reported for this population of patients with EOS. Patients with Goldenhar syndrome and EOS with two years' follow-up were identified from two international multicenter EOS databases. Scoliosis, kyphosis, spine height, and hemithoracic height/width were determined preimplant, immediately postoperative, and at the two-year follow-up. Severity of complications (SV) was recorded (Smith et al. JPO 2015). Ten patients met inclusion criteria and had a mean age of 4.6 ± 2.5 years at GF implantation (one spine and nine rib-based). Mean preoperative scoliosis was 64°, postimplant 52°, and at mean follow up of 2.4 ± 0.5 years was 50° (p = .09). Preoperative kyphosis was 36°, postimplant 38°, and final 42° (p = .08). Preoperative T1-S1 height was 23.5 cm, postimplant 23.6 cm, and final 27.3 cm (p = .06). Preoperative convex hemithoracic height was 10.4 cm, postimplant 7.9 cm, and final 12.8 cm (p < .05). Preoperative concave hemithoracic height was 8.4 cm, postimplant 8.8 cm, and final 9.9 cm (p = .30). Preoperative right hemithoracic width was 8.02 cm, postimplant 7.22 cm, and final 7.86 cm (p = .07). Preoperative left hemithoracic width was 7.18 cm, postimplant 7.86 cm, and final 8.60 cm (p = .43). Eight patients had ≥1 complication with SV I (n = 7), SV II (n = 2), and SV IIA (n = 7). These included infection (n = 4), migration (n = 3), pneumonia (n = 2), and instrumentation failure (n = 2). At minimum two-year follow-up, GF surgical intervention for the treatment of EOS associated with Goldenhar syndrome trended toward improvements in scoliosis and spine height, but had a significant improvement in convex hemithoracic height; however, the majority

  1. Psychometric Validation of the Traditional Chinese Version of the Early Onset Scoliosis-24 Item Questionnaire (EOSQ-24).

    PubMed

    Cheung, Jason Pui Yin; Cheung, Prudence Wing Hang; Wong, Carlos King Ho; Samartzis, Dino; Luk, Keith Dip-Kei; Lam, Cindy Lo Kuen; Cheung, Kenneth Man Chee

    2016-12-15

    Questionnaire translation and validation. The aim of this study was to translate and cross-culturally adapt the Early Onset Scoliosis-24 item Questionnaire (EOSQ-24) into traditional Chinese, and to assess its validity, reliability, and sensitivity in Southern-Chinese patients diagnosed with early onset scoliosis (EOS). Relying on radiographs alone for assessing treatment outcomes in EOS patients is inadequate. To properly gauge health-related quality of life, a disease-specific instrument that assesses patient quality of life and the burden of primary caregivers is necessary. The EOSQ-24 was created for this purpose, but it has not been adapted to the Chinese language. The translation and cross-cultural adaptation of the original English EOSQ-24 were performed using the method of double forward and single backward translations, followed by a panel review. EOS patients of Southern-Chinese descent were recruited, via convenience sampling from a scoliosis specialty clinic. These patients' parents/caretakers were then administered the traditional Chinese EOSQ-24, Likert Scale regarding the understanding of completed EOSQ-24, and the Child Health Questionnaire Parent Form 50 (CHQ-PF50) (Traditional Chinese). Reliability was analyzed using Cronbach alpha. Construct validity of domains and subdomains was assessed using Spearman correlation test against CHQ-PF50 domains with similar constructs. Sensitivity of the EOSQ-24 scores was determined by performing known group comparisons. A total of 100 EOS patients were recruited. A very good reliability was demonstrated (Cronbach α: 0.896) and internal consistency of all domains was excellent (Cronbach α: 0.829-0.919). Subdomain scores of EOSQ-24 and CHQ-PF50 had significant correlations (P < 0.001), indicating a good construct validity. This is the first psychometric study to translate and adapt the EOSQ-24 questionnaire for Chinese EOS patients and it has been found to have satisfactory validity, reliability, and

  2. [Outcome of traditional growing rods for correction of apical vertebra rotation in early-onset scoliosis].

    PubMed

    Sun, X; Xu, L; Chen, Z H; Chen, X; Du, C Z; Li, S; Liu, Z; Qian, B P; Wang, B; Zhu, Z Z; Qiu, Y

    2018-03-01

    Objective: To evaluate the correction result of traditional dual growing rods on apical vertebral rotation. Methods: This study recruited 19 early-onset scoliosis patients (6 boys and 13 girls) who had received traditional dual growing rods treatment at Department of Spine Surgery, Nanjing Drum Tower Hospital from January 2009 to July 2015. The age at initial surgery was (5.7±1.7)years(range, 3 to 9 years). Measurements of primary curve magnitude, height of T(1)-S(1), apical vertebral translation(AVR), apical vertebral body-rib ratio, apical vertebral rotation, thoracic rotation and rib hump were compared between pre-operatively, post-operatively, and at latest follow-up, through a paired- t test. Pearson correlation test was used for correlation analysis between parameters. Results: All patients had a follow-up of (49.5±12.8)months(range, 24 to 71 months). A total of 111 operative procedures were performed, among which there were 92 lengthening procedures, averagely 4.8 lengthening procedures per patient. The average interval for each lengthening procedure was 10 months. The Cobb angle of primary curve was notably decreased from (66.5±13.2)° to (35.2±10.9)°( t =24.013, P <0.01), and no significant correction loss was found at the latest follow-up ((36.7±10.7)°)( t =-1.324, P =0.202). In addition, significant correction of AVR, thoracic rotation, apical vertebral translation, apical vertebra body-rib ratio, and rib hump were noted after initial surgery. Whereas, these parameters significant increased during follow-up(all P <0.05) except for thoracic rotation. Pearson correlation analysis showed that the increase of AVR during follow-up significantly correlated with change of apical vertebra translation, apical vertebral body-rib ratio, and rib hump( r =0.652, 0.814, 0.695; all P <0.05). Conclusions: Significant correction of AVR can be achieved after initial surgery in early-onset scoliosis patients treated with traditional dual growing rods. However, such

  3. Idiopathic Early-Onset Scoliosis: Growing Rods Versus Vertically Expandable Prosthetic Titanium Ribs at 5-Year Follow-up.

    PubMed

    Bachabi, Malick; McClung, Anna; Pawelek, Jeff B; El Hawary, Ron; Thompson, George H; Smith, John T; Vitale, Michael G; Akbarnia, Behrooz A; Sponseller, Paul D

    2018-06-08

    Distraction-based techniques allow spinal growth until skeletal maturity while preventing curve progression. Two multicenter early-onset scoliosis databases were used to identify patients with idiopathic spine abnormalities treated with traditional growing rods (TGR) or vertically expandable titanium ribs (VEPTR). Patients underwent at least 4 lengthenings and had at least 5-year follow-up. Significance was set at P<0.05. In total, 50 patients treated with TGR and 22 treated with VEPTR were included. Mean (±SD) age at surgery was 5.5 (±2.0) years for the TGR group versus 4.3 (±1.9) years for the VEPTR group (P=0.044); other demographic parameters were similar. VEPTR patients had more procedures (mean 15±4.2) than TGR patients (mean 10±4.0) (P=0.001). Unilateral constructs were present in 18% (4 of 22) of VEPTR and 16% (8 of 50) of TGR patients. Bilateral constructs spanned a mean 2.1 additional surgical levels and exposed patients to 1.6 fewer procedures than unilateral constructs. Curve correction was similar between bilateral and unilateral constructs. TGR patients experienced greater curve correction (50%) than VEPTR patients (27%) (P<0.001) and achieved a greater percentage of thoracic height gain (24%) than VEPTR patients (12%) (P=0.024). At latest follow-up, TGR patients had better maintenance of curve correction, less kyphosis, and 15% greater absolute gain in thoracic height versus VEPTR patients. TGR patients had a lower rate of wound complications (14%) than VEPTR patients (41%) (P=0.011). In patients with idiopathic early-onset scoliosis, TGRs produced greater initial curve correction, greater thoracic height gains, less kyphosis, and lower incidence of wound complications compared with VEPTR. Level III.

  4. Serial Derotational Casting in Idiopathic and Non-Idiopathic Progressive Early-Onset Scoliosis.

    PubMed

    Gussous, Yazeed M; Tarima, Sergey; Zhao, Shi; Khan, Safdar; Caudill, Angela; Sturm, Peter; Hammerberg, Kim W

    2015-05-01

    Serial derotational casting has been used as a definitive treatment or as delaying strategy in progressive idiopathic (IS) and non-idiopathic (NIS) early-onset scoliosis (EOS). Retrospective chart and radiographic review of patients who underwent serial casting for progressive EOS between 2005 and 2012 at a single institution. A total of 74 consecutive patients entered serial cast treatment. Twenty-eight were currently being casted, 30 completed cast treatment and were converted to thoracolumbosacral orthosis (TLSO), 9 were treated surgically, 6 were lost to follow-up, and 1 had no further treatment. The researchers diagnosed IS in 41 patients; 33 had NIS. At presentation the IS group had an average Cobb angle (CA) of 49° and a rib vertebral angle difference (RVAD) of 37°. The NIS group had a CA of 51° (p = .69) and RVAD of 37° (p = .94). In patients currently being casted, 19 IS patients had a decreased CA, from 47° to 27°. The 9 NIS patients had a decreased CA, from 62° to 57° (p = .0002). Cobb angle improvement was significantly better in IS (p = .0005). In the TLSO group the 17 IS patients had a decreased average CA, from 46° to 18°, after serial casting and the 13 NIS patients decreased CA from 42° to 32°. Patients with IS had better improvement in CA than the NIS group (p < .001). At last follow-up, this was reduced to 11° in the IS group and maintained at 32° in the NIS. In the IS group, 5 of 41 patients were converted to growth constructs, and 4 of 26 in the NIS group. Casting initiated before age 2 years yielded better curve correction for IS (p < .01) compared with NIS. Progressive idiopathic scoliosis patients had better curve correction with casting than NIS patients. Casting in IS patients before age 24 months yielded better curve correction. Patients who required surgery had a higher age and Cobb angle at presentation than those who transitioned to a TLSO. The surgical group was observed for a similar duration of time and there was no

  5. [Adolescent scoliosis : From deformity to treatment].

    PubMed

    Schulze, A; Schrading, S; Betsch, M; Quack, V; Tingart, M

    2015-11-01

    Scoliosis affects up to 6 % of the population. The resulting spine deformity, the increasing risk of back pain, cosmetic aspects, pulmonary disorders if the Cobb angle is > 80°, and the progress of the deformity to > 50° after the end of growth indicate non-operative or operative therapy. In daily clinical practice, the classifications of scoliosis allow the therapy to be adapted. Classifications consider deformity, topography of the scoliosis, and the age at diagnosis. This publication gives an overview of the relevant and most common classifications in the treatment of adolescent scoliosis. For evaluation, the deformity measurement on the coronary radiographic projection of the total spine (Cobb angle) is relevant to therapy. The classification of topography, form, and the sagittal profile of the deformity of the spine are useful for preoperative planning of the fusion level. Classifications that take into account the age at the time of the diagnosis of scoliosis differentiate among early onset scoliosis (younger than 10 years of age), adolescent scoliosis (up to the end of growth), and adult scoliosis. Early onset scoliosis is subdivided by age and etiology. Therapy is derived from the classification of clinical and radiological findings. Classifications that take into account clinical and radiological parameters are essential components of modern scoliosis therapy.

  6. Risk Factors for Proximal Junctional Kyphosis Associated With Dual-rod Growing-rod Surgery for Early-onset Scoliosis.

    PubMed

    Watanabe, Kota; Uno, Koki; Suzuki, Teppei; Kawakami, Noriaki; Tsuji, Taichi; Yanagida, Haruhisa; Ito, Manabu; Hirano, Toru; Yamazaki, Ken; Minami, Shohei; Taneichi, Hiroshi; Imagama, Shiro; Takeshita, Katsushi; Yamamoto, Takuya; Matsumoto, Morio

    2016-10-01

    A retrospective, multicenter study. To identify risk factors for proximal junctional kyphosis (PJK) when treating early-onset scoliosis (EOS) with dual-rod growing-rod (GR) procedure. The risk factors for PJK associated with GR treatment for EOS have not been adequately studied. We evaluated clinical and radiographic results from 88 patients with EOS who underwent dual-rod GR surgery in 12 spine centers in Japan. The mean age at the time of the initial surgery was 6.5±2.2 years (range, 1.5-9.8 y), and the mean follow-up period was 3.9±2.6 years (range, 2.0-12.0 y). Risk factors for PJK were analyzed by binomial multiple logistic regression analysis. The potential factors analyzed were sex, etiology, age, the number of rod-lengthening procedures, coronal and sagittal parameters on radiographs, the type of foundation (pedicle screws or hooks), the uppermost level of the proximal foundation, and the lowermost level of the distal foundation. PJK developed in 23 patients (26%); in 19 of these, the proximal foundation became dislodged following PJK. Binomial multiple logistic regression analysis identified the following significant independent risk factors for PJK: a lower instrumented vertebra at or cranial to L3 [odds ratio (OR), 3.32], a proximal thoracic scoliosis of ≥40 degrees (OR, 2.95), and a main thoracic kyphosis of ≥60 degrees (OR, 5.08). The significant independent risk factors for PJK during dual-rod GR treatment for EOS were a lower instrumented vertebra at or cranial to L3, a proximal thoracic scoliosis of ≥40 degrees, and a main thoracic kyphosis of ≥60 degrees.

  7. Mild angle early onset idiopathic scoliosis children avoid progression under FITS method (Functional Individual Therapy of Scoliosis).

    PubMed

    Białek, Marianna

    2015-05-01

    Physiotherapy for stabilization of idiopathic scoliosis angle in growing children remains controversial. Notably, little data on effectiveness of physiotherapy in children with Early Onset Idiopathic Scoliosis (EOIS) has been published.The aim of this study was to check results of FITS physiotherapy in a group of children with EOIS.The charts of the patients archived in a prospectively collected database were retrospectively reviewed. The inclusion criteria were:diagnosis of EOIS based on spine radiography, age below 10 years, both girls and boys, Cobb angle between 118 and 308, Risser zero, FITS therapy, no other treatment (bracing), and a follow-up at least 2 years from the initiation of the treatment. The criterion for curve progression were as follows: the Cobb angle increase of 68 or more, for curve stabilization; the Cobb angle was 58 comparing to the initial radiograph,for curve correction; and the Cobb angle decrease of 68 or more at the final follow-up radiograph.There were 41 children with EOIS, 36 girls and 5 boys, mean age 7.71.3 years (range 4 to 9 years) who started FITS therapy. The curve pattern was single thoracic (5 children), single thoracolumbar (22 children) or double thoracic/thoracolumbar (14 children), totally 55 structural curvatures. The minimum follow-up was 2 years after initiation of the FITS treatment, maximum was 16 years, mean 4.8 years). At follow-up the mean age was 12.53.4 years. Out of 41 children, 10 passed pubertal growth spurt at the final follow-up and 31 were still immature and continued FITS therapy. Out of 41 children, 27 improved, 13 were stable, and one progressed. Out of 55 structural curves, 32 improved, 22 were stable and one progressed. For the 55 structural curves, the Cobb angle significantly decreased from 18.085.48 at first assessment to 12.586.38 at last evaluation,p<0.0001, paired t-test. The angle of trunk rotation decreased significantly from 4.782.98 to 3.282.58 at last evaluation, p<0.0001,paired t

  8. Exercise Tolerance in Children With Early Onset Scoliosis: Growing Rod Treatment "Graduates".

    PubMed

    Jeans, Kelly A; Johnston, Charles E; Stevens, Wilshaw R; Tran, Dong-Phuong

    2016-11-01

    Prospectively enrolled early-onset scoliosis (EOS) patients undergoing growing rod treatment, who have had no surgery for >1 year and/or have received definitive fusion (growing rod "graduates"). To assess oxygen consumption during exercise and determine if a diminished conventional pulmonary function test (PFT) correlates with metabolic, pulmonary, and cardiovascular measures during exercise. Based on clinical impression and sequential PFT values, EOS patients who have undergone extensive treatment are thought to have limited capacity during exercise. The use of PFTs in this population has been a primary outcome measure of respiratory capacity; however, PFTs are dependent on effort, and thus subjective. This led us to find a new assessment of outcome, to better understand their pulmonary capacity. Patients underwent oxygen consumption (VO 2 ) testing while walking at self-selected speed over-ground and during a graded exercise test. Maximal VO 2 was predicted in those who completed the test to 85% of maximal heart rate (HR). Statistical analysis included Mann-Whitney U test and Spearman correlation coefficient (α = 0.05). 12 patients participated. Over-ground walking showed that EOS graduates chose to walk at the same speed, but at a higher VO 2 Cost (0.28 mL/kg/m) than controls (0.22 mL/kg/m; p < .001). Treadmill exercise testing showed 9 of 12 subjects able to complete the 85% of predicted maximum protocol. The EOS group had lower VO 2 during the final stage (27.9 mL/kg/min) compared to controls (34.2 mL/kg/min; p = .021); however, their heart rate reached the same values. Subjects completing the protocol had lower predicted VO 2 max (38.5 mL/kg/min) compared with controls (45.0 mL/kg/min), but this was not significant. Although PFT data suggest clinically relevant pulmonary compromise in EOS patients, the current study shows that these children are able to keep up with their peers in daily activities and also have the capacity to exercise. Level II

  9. Retrieval and clinical analysis of distraction-based dual growing rod constructs for early-onset scoliosis.

    PubMed

    Hill, Genevieve; Nagaraja, Srinidhi; Akbarnia, Behrooz A; Pawelek, Jeff; Sponseller, Paul; Sturm, Peter; Emans, John; Bonangelino, Pablo; Cockrum, Joshua; Kane, William; Dreher, Maureen

    2017-10-01

    Growing rod constructs are an important contribution for treating patients with early-onset scoliosis. These devices experience high failure rates, including rod fractures. The objective of this study was to identify the failure mechanism of retrieved growing rods, and to identify differences between patients with failed and intact constructs. Growing rod patients who had implant removal and were previously enrolled in a multicenter registry were eligible for this study. Forty dual-rod constructs were retrieved from 36 patients across four centers, and 34 of those constructs met the inclusion criteria. Eighteen constructs failed due to rod fracture. Sixteen intact constructs were removed due to final fusion (n=7), implant exchange (n=5), infection (n=2), or implant prominence (n=2). Analyses of clinical registry data, radiographs, and retrievals were the outcome measures. Retrievals were analyzed with microscopic imaging (optical and scanning electron microscopy) for areas of mechanical failure, damage, and corrosion. Failure analyses were conducted on the fracture surfaces to identify failure mechanism(s). Statistical analyses were performed to determine significant differences between the failed and intact groups. The failed rods fractured due to bending fatigue under flexion motion. Construct configuration and loading dictate high bending stresses at three distinct locations along the construct: (1) mid-construct, (2) adjacent to the tandem connector, or (3) adjacent to the distal anchor foundation. In addition, high torques used to insert set screws may create an initiation point for fatigue. Syndromic scoliosis, prior rod fractures, increase in patient weight, and rigid constructs consisting of tandem connectors and multiple crosslinks were associated with failure. This is the first study to examine retrieved, failed growing rod implants across multiple centers. Our analysis found that rod fractures are due to bending fatigue, and that stress concentrations

  10. Early Detection of Progressive Adolescent Idiopathic Scoliosis: A Severity Index.

    PubMed

    Skalli, Wafa; Vergari, Claudio; Ebermeyer, Eric; Courtois, Isabelle; Drevelle, Xavier; Kohler, Remi; Abelin-Genevois, Kariman; Dubousset, Jean

    2017-06-01

    Early detection of progressive adolescent idiopathic scoliosis (AIS) was assessed based on 3D quantification of the deformity. Based on 3D quantitative description of scoliosis curves, the aim is to assess a specific phenotype that could be an early detectable severity index for progressive AIS. Early detection of progressive scoliosis is important for adapted treatment to limit progression. However, progression risk assessment is mainly based on the follow up, waiting for signs of rapid progression that generally occur during the growth peak. Sixty-five mild scoliosis (16 boys, 49 girls, Cobb Angle between 10 and 20°) with a Risser between 0 and 2 were followed from their first examination until a decision was made by the clinician, either considering the spine as stable at the end of growth (26 patients) or planning to brace because of progression (39 patients). Calibrated biplanar x-rays were performed and 3D reconstructions of the spine allowed calculating six local parameters related to main curve deformity. For progressive curve 3D phenotype assessment, data were compared with those previously assessed for 30 severe scoliosis (Cobb Angle > 35°), 17 scoliosis before brace (Cobb Angle > 29°) and 53 spines of nonscoliosis subjects. A predictive discriminant analysis was performed to assess similarity of mild scoliosis curves either to those of scoliosis or nonscoliosis spines, yielding a severity index (S-index). S-index value at first examination was compared with clinical outcome. At the first exam, 53 out of 65 predictions (82%) were in agreement with actual clinical outcome. Approximately, 89% of the curves that were predicted as progressive proved accurate. Although still requiring large scale validation, results are promising for early detection of progressive curves. 2.

  11. The role of serial casting in early-onset scoliosis (EOS).

    PubMed

    Baulesh, David M; Huh, Jeannie; Judkins, Timothy; Garg, Sumeet; Miller, Nancy H; Erickson, Mark A

    2012-01-01

    Serial casting has demonstrated efficacy for idiopathic early-onset scoliosis (EOS). Results of casting in nonidiopathic (syndromic and congenital) EOS patients have not previously been well described. A total of 53 patients underwent serial casting for EOS from 2005 to 2010 at a single institution. Deformity was classified as idiopathic or nonidiopathic. Diagnosis, time in cast, number of casts, use of bracing, complications, and outcomes were recorded. Radiographic measures included Cobb angle and thoracic height (T1-T12). Thoracic height velocity was calculated and compared with established norms. A total of 36 patients, 19 idiopathic and 17 nonidiopathic (14 syndromic, 3 congenital), completed cast treatment and had >6-month follow-up and were therefore included. Of those, 17% (6/36) experienced resolution of their deformity, 53% (19/26) are currently in braces, and 31% (11/36) had undergone surgery. Surgery occurred on average at age 5.6 years and was delayed by an average of 2.1 years from time of first cast. A 19% complication was observed. There was no statistical difference in the rate of resolution of deformity between idiopathic (5/19) and nonidiopathic (1/17) patients (P=0.182), although there exists a trend toward greater curve correction in idiopathic patients. Surgery occurred in fewer patients (2/19) in the idiopathic group compared with the nonidiopathic group (9/17) (P=0.006). Significant improvements in Cobb angle was observed in the idiopathic group (12.2 degrees) during casting (P=0.003). Nonidiopathic patients did not maintain the correction gained during casting at the time of final follow-up. T1-T12 height increased across all study patients regardless of etiology during the period of casting at similar velocity to established norms of 1.4 cm/y for this age group. Serial casting offers modest deformity correction in idiopathic deformities compared with nonidiopathic deformities. Thoracic height growth continued throughout the casting period

  12. Growth Friendly Surgery and Serial Cast Correction in the Treatment of Early-onset Scoliosis for Patients With Prader-Willi Syndrome.

    PubMed

    Oore, Jonathan; Connell, Braydon; Yaszay, Burt; Samdani, Amer; Hilaire, Tricia St; Flynn, Tara; El-Hawary, Ron

    2018-02-02

    Prader-Willi syndrome (PWS) patients can present with scoliosis which can be treated with serial cast correction (SCC) or with growth friendly surgery (GFS). This study's purpose was to describe the results of SCC as well as GFS for PWS patients with early-onset scoliosis (EOS). PWS patients were identified from 2 international multicenter EOS databases. Scoliosis, kyphosis, spine height (T1-S1), right/left hemithoracic heights/widths (RHTH, LHTH, RHTW, LHTW) were measured pretreatment, postoperation, and at 2-year follow-up. Complications were recorded. Overall, 23 patients with 2-year follow-up were identified. Pretreatment; patients treated with SCC (n=10) had mean age of 1.8±0.6 years; body mass index (BMI), 16±1.5 kg/m; scoliosis, 45±18 degrees; kyphosis, 56±9 degrees; T1-S1, 22.4±2.4 cm; RHTH, 8.0±2.0 cm; LHTH, 8.5±1.7 cm; RHTW, 6.6±1.3 cm; and LHTW, 8.0±1.0 cm. Patients treated with GFS (n=13) had mean age of 5.8±2.6 years; BMI, 21±5.4 kg/m; scoliosis, 76±14 degrees; kyphosis, 59±25 degrees; T1-S1, 24.1±3.6 cm; RHTH, 10.0±1.6 cm; LHTH, 10.6±1.6 cm; RHTW, 9.4±2.5 cm; and LHTW, 8.1±2.8 cm. At 2-year follow-up, patients treated with SCC had mean scoliosis 37±11 degrees (18% correction, P=0.06); kyphosis, 42±6 degrees (NS); T1-S1, 26.4±2.1 cm (P<0.01); RHTH, 9.0±1.1 cm (13%; P=0.30); LHTH, 10.0±1.5 cm (18%, P<0.01); RHTW, 7.4±1.1 cm (12%, P<0.01); and LHTW, 8.0±1.0 cm (0%, P=0.34). At 2-year follow-up, patients treated with GFS had mean scoliosis 42±13 degrees (45% correction, P<0.000001); kyphosis, 53±13 degrees (10%, P=0.19); T1-S1, 31.5±5.4 cm (P<0.00001); RHTH, 12.0±2.4 cm (20%; P<0.01); LHTH, 12.0±1.7 cm (13%; P<0.01); RHTW, 9.8±1.3 cm (4%; P=0.27); and LHTW, 7.9±2.3 cm (3%;P=0.11). As an entire group, patients with a BMI>17 kg/m² had more device-related than disease-related complications (P=0.09). Patients treated with SCC had 0.9 complications per patient. Patients treated with

  13. Long-term results after Boston brace treatment in late-onset juvenile and adolescent idiopathic scoliosis.

    PubMed

    Lange, Johan Emil; Steen, Harald; Gunderson, Ragnhild; Brox, Jens Ivar

    2011-08-31

    It is recommended that research in patients with idiopathic scoliosis should focus on short- and long-term patient-centred outcome. The aim of the present study was to evaluate outcome in patients with late-onset juvenile or adolescent idiopathic scoliosis 16 years or more after Boston brace treatment. 272 (78%) of 360 patients, 251 (92%) women, responded to follow-up examination at a mean of 24.7 (range 16 - 32) years after Boston brace treatment. Fifty-eight (21%) patients had late-onset juvenile and 214 had adolescent idiopathic scoliosis. All patients had clinical and radiological examination and answered a standardised questionnaire including work status, demographics, General Function Score (GFS) (100 - worst possible) and Oswestry Disability Index (ODI) (100 - worst possible), EuroQol (EQ-5D) (1 - best possible), EQ-VAS (100 - best possible), and Scoliosis Research Society - 22 (SRS - 22) (5 - best possible). The mean age at follow-up was 40.4 (31-48) years. The prebrace major curve was in average 33.2 (20 - 57)°. At weaning and at the last follow-up the corresponding values were 28.3 (1 - 58)° and 32.5 (7 - 80)°, respectively. Curve development was similar in patients with late-onset juvenile and adolescent start. The prebrace curve increased > 5° in 31% and decreased > 5° in 26%. Twenty-five patients had surgery. Those who did not attend follow-up (n = 88) had a lower mean curve at weaning: 25.4 (6-53)°. Work status was 76% full-time and 10% part-time. Eighty-seven percent had delivered a baby, 50% had pain in pregnancy. The mean (SD) GFS was 7.4 (10.8), ODI 9.3 (11.0), EQ-5D 0.82 (0.2), EQ-VAS 77.6 (17.8), SRS-22: pain 4.1 (0.8), mental health 4.1 (0.6), self-image 3.7 (0.7), function 4.0 (0.6), satisfaction with treatment 3.7 (1.0). Surgical patients had significantly reduced scores for SRS-physical function and self-image, and patients with curves ≥ 45° had reduced self-image. Long-term results were satisfactory in most braced patients and

  14. The Effect of Growing Rod Treatment on Hemoglobin and Hematocrit Levels in Early-onset Scoliosis.

    PubMed

    Barrett, Kody K; Lee, Christopher; Myung, Karen; Johnston, Charles; Shah, Suken A; Akbarnia, Behrooz A; Skaggs, David L

    2016-09-01

    This study examines preoperative hemoglobin (Hgb) and hematocrit (Hct) levels in a group of early-onset scoliosis (EOS) patients and the effect of distraction-based growing rods (GRs) on these levels. Children with EOS are at risk for respiratory insufficiency and chronic hypoxemia. Increased Hgb and Hct levels have been identified as surrogate markers for chronic hypoxemia. A study of patients who underwent VEPTR surgery showed a significant decrease in Hgb levels following surgery. Data were retrospectively collected on 66 EOS patients without confounding respiratory issues or oxygen dependence who were treated with GRs at 5 institutions. Average age at initial surgery was 5.5 years. Patients were followed for a minimum of 2 years (average 3.7 y). Preoperative and postoperative Hgb and Hct levels were converted to Z-scores based on age-adjusted mean blood indices and were compared using a paired t test. The prevalence of elevated Hgb and Hct levels (Z-score >2) preoperatively was 15% (10/66) and 19% (12/64), respectively. The average Hgb Z-score decreased from 0.20 to -0.31 (P=0.005) 6 to 24 months following surgery and the Hct Z-score decreased from 0.31 to -0.28 (P=0.002) 6 to 24 months following surgery. Following distraction-based GR treatment of children with EOS there was a significant decrease in both their Hgb and Hct. This is a physiological marker of decreased hypoxemia and improved pulmonary function. Level III-therapeutic study.

  15. The Classification for Early-onset Scoliosis (C-EOS) Correlates With the Speed of Vertical Expandable Prosthetic Titanium Rib (VEPTR) Proximal Anchor Failure.

    PubMed

    Park, Howard Y; Matsumoto, Hiroko; Feinberg, Nicholas; Roye, David P; Kanj, Wajdi W; Betz, Randal R; Cahill, Patrick J; Glotzbecker, Michael P; Luhmann, Scott J; Garg, Sumeet; Sawyer, Jeffrey R; Smith, John T; Flynn, John M; Vitale, Michael G

    2017-09-01

    The Classification for Early-onset Scoliosis (C-EOS) was developed by a consortium of early-onset scoliosis (EOS) surgeons. This study aims to examine if the C-EOS classification correlates with the speed (failure/unit time) of proximal anchor failure in EOS surgery patients. A total of 106 EOS patients were retrospectively queried from an EOS database. All patients were treated with vertical expandable prosthetic titanium rib and experienced proximal anchor failure. Patients were classified by the C-EOS, which includes a term for etiology [C: Congenital (54.2%), M: Neuromuscular (32.3%), S: Syndromic (8.3%), I: Idiopathic (5.2%)], major curve angle [1: ≤20 degrees (0%), 2: 21 to 50 degrees (15.6%), 3: 51 to 90 degrees (66.7%), 4: >90 degrees (17.7%)], and kyphosis ["-": ≤20 (13.5%), "N": 21 to 50 (42.7%), "+": >50 (43.8%)]. Outcome was measured by time and number of lengthenings to failure. Analyzing C-EOS classes with >3 subjects, survival analysis demonstrates that the C-EOS discriminates low, medium, and high speed of failure. The low speed of failure group consisted of congenital/51-90/hypokyphosis (C3-) class. The medium-speed group consisted of congenital/51-90/normal and hyperkyphosis (C3N, C3+), and neuromuscular/51-90/hyperkyphosis (M3+) classes. The high-speed group consisted of neuromuscular/51-90/normal kyphosis (M3N), and neuromuscular/>90/normal and hyperkyphosis (M4N, M4+) classes. Significant differences were found in time (P<0.05) and number of expansions (P<0.05) before failure between congenital and neuromuscular classes.As isolated variables, neuromuscular etiology experienced a significantly faster time to failure compared with patients with idiopathic (P<0.001) and congenital (P=0.026) etiology. Patients with a major curve angle >90 degrees demonstrated significantly faster speed of failure compared with patients with major curve angle 21 to 50 degrees (P=0.011). The ability of the C-EOS to discriminate the speeds of failure of the

  16. Use of the S-hook for Pelvic Fixation in Rib-Based Treatment of Early-Onset Scoliosis: A Multicenter Study.

    PubMed

    Ramirez, Norman; Flynn, John M; Smith, John T; Vitale, Michael; Sturm, Peter F; DʼAmato, Charles; Samdani, Amer; Machiavelli, Raul; El-Hawary, Ron

    2015-06-01

    Retrospective review. The purpose of this study was to evaluate how several preoperative variables affect the outcome using the rib-to-pelvis S-hook constructs of a rib-based distraction implant (Vertical Expandable Prosthetic Titanium Rib). Rib-to-pelvis fixation with S-hooks is one of the options for distal anchoring of rib-based distraction growing rod construct to control early-onset spinal deformity. Since the initial report, the indications of pelvic fixation with S-hooks have been extended and modified. This is an institutional review board-approved retrospective study of patients who underwent rib-based growing rod system surgery-rib-to-pelvis construct with Dunn-McCarthy S-hook. Data evaluation included history, physical examination, preoperative and postoperative radiographs, surgical variables, and complications. Sixty-five patients were evaluated; 38 were male and 27 were female. Mean age at initial procedure was 71 months. The mean follow-up was 46 months. There was a statistically significant improvement of the immediate postoperative Cobb angle and the last follow-up Cobb angle (P < 0.0001). Fifty percent of the patients (32/65) had S-hook-related complications. The most common complication was sliding of the S-hook out of the iliac crest, followed by infection, neuropathic pain, distal migration of more than 2 cm, fracture of the hook, and bursitis. The complications were related to the preoperative ambulatory status, the use of end-to-end rod connectors, surgical time, and not positioning the hook over the central one-third of the iliac crest at the initial implantation. The use of the S-hook as a pelvic attachment of the rib-based system is indicated in nonambulatory patients with progressive, early-onset scoliosis curve with a lack of adequate anchor at the lumbar spine. Several technical factors should be considered to reduce the complication rate. 3.

  17. [Characteristics of neuromuscular scoliosis].

    PubMed

    Putzier, M; Groß, C; Zahn, R K; Pumberger, M; Strube, P

    2016-06-01

    Usually, neuromuscular scolioses become clinically symptomatic relatively early and are rapidly progressive even after the end of growth. Without sufficient treatment they lead to a severe reduction of quality of life, to a loss of the ability of walking, standing or sitting as well as to an impairment of the cardiopulmonary system resulting in an increased mortality. Therefore, an intensive interdisciplinary treatment by physio- and ergotherapists, internists, pediatricians, orthotists, and orthopedists is indispensable. In contrast to idiopathic scoliosis the treatment of patients with neuromuscular scoliosis with orthosis is controversially discussed, whereas physiotherapy is established and essential to prevent contractures and to maintain the residual sensorimotor function.Frequently, the surgical treatment of the scoliosis is indicated. It should be noted that only long-segment posterior correction and fusion of the whole deformity leads to a significant improvement of the quality of life as well as to a prevention of a progression of the scoliosis and the development of junctional problems. The surgical intervention is usually performed before the end of growth. A prolonged delay of surgical intervention does not result in an increased height but only in a deformity progression and is therefore not justifiable. In early onset neuromuscular scolioses guided-growth implants are used to guarantee the adequat development. Because of the high complication rates, further optimization of these implant systems with regard to efficiency and safety have to be addressed in future research.

  18. The Classification for Early-onset Scoliosis (C-EOS) Correlates With the Speed of Vertical Expandable Prosthetic Titanium Rib (VEPTR) Proximal Anchor Failure

    PubMed Central

    Park, Howard Y.; Matsumoto, Hiroko; Feinberg, Nicholas; Roye, David P.; Kanj, Wajdi W.; Betz, Randal R.; Cahill, Patrick J.; Glotzbecker, Michael P.; Luhmann, Scott J.; Garg, Sumeet; Sawyer, Jeffrey R.; Smith, John T.; Flynn, John M.; Vitale, Michael G.

    2017-01-01

    Background The Classification for Early-onset Scoliosis (C-EOS) was developed by a consortium of early-onset scoliosis (EOS) surgeons. This study aims to examine if the C-EOS classification correlates with the speed (failure/unit time) of proximal anchor failure in EOS surgery patients. Methods A total of 106 EOS patients were retrospectively queried from an EOS database. All patients were treated with vertical expandable prosthetic titanium rib and experienced proximal anchor failure. Patients were classified by the C-EOS, which includes a term for etiology [C: Congenital (54.2%), M: Neuromuscular (32.3%), S: Syndromic (8.3%), I: Idiopathic (5.2%)], major curve angle [1: ≤20 degrees (0%), 2: 21 to 50 degrees (15.6%), 3: 51 to 90 degrees (66.7%), 4: >90 degrees (17.7%)], and kyphosis [“−”: ≤20 (13.5%), “N”: 21 to 50 (42.7%), “+”: >50 (43.8%)]. Outcome was measured by time and number of lengthenings to failure. Results Analyzing C-EOS classes with >3 subjects, survival analysis demonstrates that the C-EOS discriminates low, medium, and high speed of failure. The low speed of failure group consisted of congenital/51-90/hypokyphosis (C3−) class. The medium-speed group consisted of congenital/51-90/normal and hyperkyphosis (C3N, C3+), and neuromuscular/51-90/hyperkyphosis (M3+) classes. The high-speed group consisted of neuromuscular/51-90/normal kyphosis (M3N), and neuromuscular/>90/normal and hyperkyphosis (M4N, M4+) classes. Significant differences were found in time (P < 0.05) and number of expansions (P < 0.05) before failure between congenital and neuromuscular classes. As isolated variables, neuromuscular etiology experienced a significantly faster time to failure compared with patients with idiopathic (P < 0.001) and congenital (P = 0.026) etiology. Patients with a major curve angle >90 degrees demonstrated significantly faster speed of failure compared with patients with major curve angle 21 to 50 degrees (P = 0.011). Conclusions The

  19. Long-Term Effects of Untreated Adolescent Idiopathic Scoliosis: A Review of the Literature

    PubMed Central

    Karavidas, Nikos; Moramarco, Marc; Moramarco, Kathryn

    2016-01-01

    Currently, adolescent idiopathic scoliosis (AIS) is principally regarded as benign, but some researchers have cited serious or extreme effects, including severe pain, cardiopulmonary compromise, social isolation, and even early death. Therefore, exploration of the long-term effects of AIS, the most common type of idiopathic scoliosis, is warranted. The purpose of this review was to examine the long-term studies on the natural history of AIS and/or reviews concerning the long-term effects of untreated AIS. A PubMed search was conducted using the key words idiopathic scoliosis, long-term effects and idiopathic scoliosis, natural history. For further analysis, references cited in those studies were reviewed for additional, related evidence not retrieved in the initial PubMed search. A review of the pertinent bibliography showed that older natural history studies did not distinguish between late-onset scoliosis (referred to in this paper as AIS) and early-onset scoliosis (EOS). The more recent studies offer such important distinction and reach to the general conclusion that untreated AIS does not lead to severe consequences with respect to signs and symptoms of scoliosis. It is possible that earlier studies may have included patient populations with EOS, leading to the perception of untreated scoliosis as having an unusually high morbidity rate. Studies on the long-term effects of AIS that specifically excluded EOS patients conclude that AIS is a benign disorder. This indicates that for research and reporting purposes, it is important to distinguishing between AIS and EOS. This will allow the practitioner and patient and their families to decide on an optimal treatment plan based on the most appropriate prognosis. PMID:27994795

  20. Optimal management of idiopathic scoliosis in adolescence

    PubMed Central

    Kotwicki, Tomasz; Chowanska, Joanna; Kinel, Edyta; Czaprowski, Dariusz; Tomaszewski, Marek; Janusz, Piotr

    2013-01-01

    Idiopathic scoliosis is a three-dimensional deformity of the growing spine, affecting 2%–3% of adolescents. Although benign in the majority of patients, the natural course of the disease may result in significant disturbance of body morphology, reduced thoracic volume, impaired respiration, increased rates of back pain, and serious esthetic concerns. Risk of deterioration is highest during the pubertal growth spurt and increases the risk of pathologic spinal curvature, increasing angular value, trunk imbalance, and thoracic deformity. Early clinical detection of scoliosis relies on careful examination of trunk shape and is subject to screening programs in some regions. Treatment options are physiotherapy, corrective bracing, or surgery for mild, moderate, or severe scoliosis, respectively, with both the actual degree of deformity and prognosis being taken into account. Physiotherapy used in mild idiopathic scoliosis comprises general training of the trunk musculature and physical capacity, while specific physiotherapeutic techniques aim to address the spinal curvature itself, attempting to achieve self-correction with active trunk movements developed in a three-dimensional space by an instructed adolescent under visual and proprioceptive control. Moderate but progressive idiopathic scoliosis in skeletally immature adolescents can be successfully halted using a corrective brace which has to be worn full time for several months or until skeletal maturity, and is able to prevent more severe deformity and avoid the need for surgical treatment. Surgery is the treatment of choice for severe idiopathic scoliosis which is rapidly progressive, with early onset, late diagnosis, and neglected or failed conservative treatment. The psychologic impact of idiopathic scoliosis, a chronic disease occurring in the psychologically fragile period of adolescence, is important because of its body distorting character and the onerous treatment required, either conservative or surgical

  1. What is the Risk of Developing Proximal Junctional Kyphosis During Growth Friendly Treatments for Early-onset Scoliosis?

    PubMed

    El-Hawary, Ron; Sturm, Peter; Cahill, Patrick; Samdani, Amer; Vitale, Michael; Gabos, Peter; Bodin, Nathan; d'Amato, Charles; Harris, Colin; Al Khudairy, Ammar; Smith, John T

    2017-03-01

    Rib-based and spine-based systems are commonly used distraction-based growth friendly treatments for early-onset scoliosis (EOS). Our primary purpose was to determine the risk of developing postoperative proximal junctional kyphosis (PJK) during distraction-based growth friendly surgery. A multicenter, retrospective, radiographic comparison was performed for a group of 40 children with EOS who were treated with posterior distraction-based implants. PJK was defined as proximal junction sagittal angle (PJA)≥10 degrees and PJA at least 10 degrees greater than preoperative. Eight subjects (20%) at immediate postoperative follow-up and 11 subjects (27.5%) at minimum 2-year follow-up had developed PJK. The risk of developing PJK between rib-based and spine-based growing systems was not significantly different at immediate postoperative (17% vs. 25%) or at final (25% vs. 31%) follow-ups.Further analysis combining both treatment groups demonstrated that PJK subjects were significantly older at time of initial surgery (7.1 y PJK vs. 5.0 y no PJK). Radiographic comparisons between PJK versus no PJK: Preoperative scoliosis (69.9 vs. 76.0 degrees), thoracic kyphosis (45.1 vs. 28.7 degrees), lumbar lordosis (53.1 vs. 44.0 degrees), PJA (2.2 vs. 2.8 degrees), sagittal vertical axis (1.5 vs. 2.6 cm), pelvic incidence (52.8 vs. 47.4 degrees), pelvic tilt (14.3 vs. 8.7 degrees), and sacral slope (37.7 vs. 35.9 degrees). At both initial postoperative and at final follow-up visits, a significant difference was found for cervical lordosis 32.2 versus 14.0 degrees and 42.0 versus 16.6 degrees, respectively. Risk ratio for developing PJK at final follow-up was 2.8 for subjects with preoperative thoracic hyperkyphosis and was 3.1 for subjects with high pelvic incidence (P<0.05). The risk of developing PJK during distraction-based growth friendly treatment for EOS was 20% immediately after implantation and 28% at minimum 2-year follow-up, with no difference observed between rib

  2. Scoliosis and school screening for spinal deformity.

    PubMed

    Kane, W J; Brown, J C; Hensinger, R N; Keller, R B

    1978-05-01

    The onset of "idiopathic" scoliosis is gradual. It goes unnoticed by parent and child alike. The problem is often not detected until the curvature has progressed. Severe scoliosis has serious long-term systemic, cosmetic and psychologic effects. School-based screening programs are very effective in reducing the number of operations required. These programs can be carried out by school nurses, physical education teachers and volunteers who are trained by a knowledgeable physician. Brace treatment is successful when scoliosis is detected only.

  3. The link between early onset drinking and early onset alcohol-impaired driving in young males.

    PubMed

    Zhang, Lening; Wieczorek, William F; Welte, John W

    2014-05-01

    Young drivers represent a disproportionate number of the individuals involved in alcohol-impaired driving. Although there is a known association between drinking and alcohol-impaired driving in young drivers, the link between early onset drinking and early onset alcohol-impaired driving has not been explored. The present study aimed to assess this link along with potentially confounding factors. The assessment used a proportional hazards model with data collected from the Buffalo Longitudinal Study of Young Men, a population-based sample of 625 males at aged 16-19. Controlling for the effects of potentially relevant confounds, the early onset of drinking was the most influential factor in predicting the early onset of alcohol-impaired driving. Race and the early onset of other forms of delinquency also played a significant role in the early onset of alcohol-impaired driving. Preventing an early start of drinking among adolescents may be the most critical factor to address in preventing an early start of alcohol-impaired driving.

  4. The management of high-grade spondylolisthesis and co-existent late-onset idiopathic scoliosis.

    PubMed

    Srivastava, Abhishek; Bayley, Edward; Boszczyk, Bronek M

    2016-10-01

    It is relatively common for a scoliosis deformity to be associated with a lumbar spondylolisthesis in adolescents (up to 48 % of spondylolistheses). In the literature two types of curve have been described: 'sciatic' or 'olisthetic'. However, there is no consensus in the literature on how best to treat these deformities. Some authors advocate a single surgical intervention, where both deformities are corrected; whereas, others advocate treating them as separate entities. In this situation, it has been shown that the scoliosis will correct with treatment of the spondylolisthesis. We present a 12-year-old girl who had a concomitant high-grade spondylolisthesis and scoliosis. Her main complaints were those of low back pain and an L5 radiculopathy. We took the decision to treat the spondylolisthesis surgically, but observe the scoliosis, rather than correcting them both surgically at the same sitting. Although the immediately post-operative radiographs showed persistence of the scoliosis, 1-year follow-up demonstrated full resolution of the deformity. This young lady also had relief of her low back pain and leg pain following the surgery. There are no standard guidelines and therefore, we discuss the management of this difficult problem, exemplifying a case of a young girl who had high-grade spondylolisthesis along with a clinically non-flexible scoliosis treated at our institution. We demonstrate that it is safe to observe the scoliosis, even in high-grade spondylolistheses.

  5. THE LINK BETWEEN EARLY ONSET DRINKING AND EARLY ONSET ALCOHOL-IMPAIRED DRIVING IN YOUNG MALES

    PubMed Central

    Zhang, Lening; Wieczorek, William F.; Welte, John W.

    2014-01-01

    Background Young drivers represent a disproportionate number of the individuals involved in alcohol-impaired driving. Although there is a known association between drinking and alcohol-impaired driving in young drivers, the link between early onset drinking and early onset alcohol-impaired driving has not been explored. Objectives The present study aimed to assess this link along with potentially confounding factors. Methods The assessment used a proportional hazards model with data collected from the Buffalo Longitudinal Study of Young Men, a population based sample of 625 males at ages of 16–19 years old. Results Controlling for the effects of potentially relevant confounds, the early onset of drinking was the most influential factor in predicting the early onset of alcohol-impaired driving. Race and the early onset of other forms of delinquency also played a significant role in the early onset of alcohol-impaired driving. Conclusion Preventing an early start of drinking among adolescents may be the most critical factor to address in preventing an early start of alcohol-impaired driving. PMID:24766089

  6. Early- versus Late-Onset Dysthymia

    PubMed Central

    Sansone, Lori A.

    2009-01-01

    In the current Diagnostic and Statistical Manual of Mental Disorders, dysthymic disorder is categorized as either early-onset or late-onset, based upon the emergence of symptoms before or after the age of 21, respectively. Does this diagnostic distinction have any meaningful clinical implications? In this edition of The Interface, we present empirical studies that have, within a single study, compared individuals with early-versus late-onset dysthymia. In this review, we found that, compared to those with late-onset dysthymia, early-onset patients are more likely to harbor psychiatric comorbidity both on Axis I and II, exhibit less psychological resilience, and have more prominent family loadings for mood disorders. These findings suggest that this distinction is meaningful and that the early-onset subtype of dysthymia is more difficult to effectively treat. PMID:20049145

  7. Evolution of the postoperative sagittal spinal profile in early-onset scoliosis: is there a difference between rib-based and spine-based growth-friendly instrumentation?

    PubMed

    Chen, Zhonghui; Li, Song; Qiu, Yong; Zhu, Zezhang; Chen, Xi; Xu, Liang; Sun, Xu

    2017-12-01

    OBJECTIVE Although the vertical expandable prosthetic titanium rib (VEPTR) and growing rod instrumentation (GRI) encourage spinal growth via regular lengthening, they can create different results because of their different fixation patterns and mechanisms in correcting scoliosis. Previous studies have focused comparisons on coronal plane deformity with minimal attention to the sagittal profile. In this retrospective study, the authors aimed to compare the evolution of the sagittal spinal profile in early-onset scoliosis (EOS) treated with VEPTR versus GRI. METHODS The data for 11 patients with VEPTR and 22 with GRI were reviewed. All patients had more than 2 years' follow-up with more than 2 lengthening procedures. Radiographic measurements were performed before and after the index surgery and at the latest follow-up. The complications in both groups were recorded. RESULTS Patients in both groups had similar diagnoses, age at the index surgery, and number of lengthening procedures. The changes in the major coronal Cobb angle and T1-S1 spinal height were not significantly different between the 2 groups. Compared with the GRI group, the VEPTR group had less correction in thoracic kyphosis (23% ± 12% vs 44% ± 16%, p < 0.001) after the index surgery and experienced a greater correction loss in thoracic kyphosis (46% ± 18% vs 11% ± 8%, p < 0.001) at the latest follow-up. Although the increase in the proximal junctional angle was not significantly different (VEPTR: 7° ± 4° vs GRI: 8° ± 5°, p = 0.569), the incidence of proximal junctional kyphosis was relatively lower in the VEPTR group (VEPTR: 18.2% vs GRI: 22.7%). No significant changes in the spinopelvic parameters were observed, while the sagittal vertical axis showed a tendency toward a neutral position in both groups. The overall complication rate was higher in the VEPTR group than in the GRI group (72.7% vs 54.5%). CONCLUSIONS The VEPTR had coronal correction and spinal growth results similar to those

  8. Childhood adversity, early-onset depressive/anxiety disorders, and adult-onset asthma.

    PubMed

    Scott, Kate M; Von Korff, Michael; Alonso, Jordi; Angermeyer, Matthias C; Benjet, Corina; Bruffaerts, Ronny; de Girolamo, Giovanni; Haro, Josep Maria; Kessler, Ronald C; Kovess, Viviane; Ono, Yutaka; Ormel, Johan; Posada-Villa, José

    2008-11-01

    To investigate a) whether childhood adversity predicts adult-onset asthma; b) whether early-onset depressive/anxiety disorders predict adult-onset asthma; and c) whether childhood adversity and early-onset depressive/anxiety disorders predict adult-onset asthma independently of each other. Previous research has suggested, but not established, that childhood adversity may predict adult-onset asthma and, moreover, that the association between mental disorders and asthma may be a function of shared risk factors, such as childhood adversity. Ten cross-sectional population surveys of household-residing adults (>18 years, n = 18,303) assessed mental disorders with the Composite International Diagnostic Interview (CIDI 3.0) as part of the World Mental Health surveys. Assessment of a range of childhood family adversities was included. Asthma was ascertained by self-report of lifetime diagnosis and age of diagnosis. Survival analyses calculated hazard ratios (HRs) for risk of adult-onset (>age 20 years) asthma as a function of number and type of childhood adversities and early-onset (onset asthma with risk increasing with the number of adversities experienced (HRs = 1.49-1.71). Early-onset depressive and anxiety disorders also predicted adult-onset asthma (HRs = 1.67-2.11). Childhood adversities and early-onset depressive and anxiety disorders both predicted adult-onset asthma after mutual adjustment (HRs = 1.43-1.91). Childhood adversities and early-onset depressive/anxiety disorders independently predict adult-onset asthma, suggesting that the mental disorder-asthma relationship is not a function of a shared background of childhood adversity.

  9. Adults With Idiopathic Scoliosis Diagnosed at Youth Experience Similar Physical Activity and Fracture Rate as Controls.

    PubMed

    Diarbakerli, Elias; Grauers, Anna; Danielsson, Aina; Gerdhem, Paul

    2017-04-01

    Cross-sectional. To describe physical activity level and fracture rates in adults with idiopathic scoliosis, diagnosed before maturity, and to compare with a control group. A previous study found a lower level of sporting activities in adults treated for idiopathic scoliosis compared with controls. Other studies have shown a lower bone mass in adults with idiopathic scoliosis compared with controls. One thousand two hundred seventy-eight adults (aged 18-71 yr) with idiopathic scoliosis and 214 controls (aged 18-70 yr) were included and answered the International Physical Activity Questionnaire - Short Form (IPAQ-SF) and questions about previous fractures. The three scoliosis treatment groups (untreated n = 360, brace n = 460, and surgically treated n = 458) were compared. Furthermore, a comparison based on onset (juvenile n = 169 or adolescent n = 976) was performed. Achieved weekly moderate activity level and metabolic equivalent task (MET) minutes/week were assessed for patients and controls. Statistical comparisons were made with analysis of covariance with adjustments for age, body mass index, and sex. The proportion achieving weekly moderate activity level was 962 out of 1278 for individuals with idiopathic scoliosis (75%) and 157 out of 214 (73%) for controls (P = 0.40). The scoliosis patients reported 2016 MET-minutes/week (median value) and the controls 2456 (P = 0.06). Fracture rates did not differ (P = 0.72). Fewer surgically treated individuals achieved moderate activity level (P = 0.046) compared with the untreated and the previously braced individuals. No difference was seen regarding MET-minutes/week (P = 0.86). No differences were seen between individuals with a juvenile onset compared with individuals with an adolescent onset (all P ≥ 0.05). Adults with idiopathic scoliosis have similar physical activity level and do not sustain more fractures compared with controls. Adults with surgically treated

  10. Scoliosis bracing and exercise for pain management in adults—a case report

    PubMed Central

    Weiss, Hans-Rudolf; Moramarco, Kathryn; Moramarco, Marc

    2016-01-01

    [Purpose] For adult patients with late-onset idiopathic scoliosis, cosmetic concerns and pain are the main reasons for seeking treatment at a physician’s office. The purpose of this paper was to describe the mid-term effect of physical rehabilitation and part-time bracing on an adult scoliosis patient who had been suffering from chronic low back pain for fourteen years. [Subject and Methods] Case description: A 37-year-old female patient with late-onset idiopathic scoliosis presented in the office of the first author in January 2014. She reported having chronic pain (low back pain) since the age of 23 and reported daily pain at a level of 5–7 on average on a Visual Analogue Scale of 0 to 10. She received a short scoliosis-specific Schroth exercise program and was also fitted with a Gensingen brace for part-time wear. [Results] At a 16 month follow-up, the patient no longer suffered from daily low back pain (with heavy lifting only) and was fully active. Additionally, her lumbar Cobb angle and angle of trunk rotation improved. [Conclusion] Patients with late-onset idiopathic scoliosis and pain may benefit from a pattern-specific conservative treatment approach. In this population, surgical intervention should be regarded as the last resort, since there are many long-term unknowns with surgery. PMID:27630444

  11. Decision Making of Graduation in Patients With Early-Onset Scoliosis at the End of Distraction-Based Programs: Risks and Benefits of Definitive Fusion.

    PubMed

    Pizones, Javier; Martín-Buitrago, Mar Pérez; Sánchez Márquez, José Miguel; Fernández-Baíllo, Nicomedes; Baldan-Martin, Montserrat; Sánchez Pérez-Grueso, Francisco Javier

    Retrospective comparative analysis. Study early-onset scoliosis (EOS) graduated patients to establish founded criteria for graduation decision making and determine the risks and benefits of definitive fusion. EOS is treated by growth-friendly techniques until skeletal maturity. Afterwards, patients can be "graduated," either by definitive fusion (posterior spinal fusion [PSF]) or by retaining the previous implants (Observation) with no additional surgery. Criteria for this decision making and the outcomes of definitive fusion are still underexplored. We analyzed a consecutive cohort of "graduated" patients after a distraction-based lengthening program. We gathered demographic, radiographic, and surgical data. The results of the two final treatment options were compared after 2 years' follow-up. A total of 32 patients were included. Four patients had incomplete records. Thirteen underwent PSF, and 15 were observed. The mean age at initial treatment was 8 ± 3 years, with a mean follow-up of 8.3 ± 2.9 years. Both groups had similar preoperative and final radiographic parameters (p > .05). The criteria for undergoing PSF were as follows: implant-related complications, main curve magnitude (PSF = 63.2° ± 9° vs. OBS = 47.9° ± 15°; p = .008), curve progression >10°, and sagittal misalignment (SVA). During PSF 12/13 patients underwent multiple osteotomies, one vertebrectomy, and 3 costoplasties. Surgical time was 291.5 ± 58 minutes; blood loss was 946 ± 375 mL; and the number of levels fused was 13.7. Coronal deformity was corrected 31%, T1-S1 length gained was 31 ± 19.6 mm and T1-T12 length gained was 9.3 ± 39 mm; kyphosis was reduced by 22%. However, coronal balance worsened by 2.3 ± 30.8 mm. No major complications were encountered in these patients. Graduation by PSF depended on unacceptable or progressive major curve deformity, sagittal misalignment, or complications with previous implants. Observation depended on curve stabilization, Cobb <50°, and

  12. Spinal fusion for scoliosis in Rett syndrome with an emphasis on early postoperative complications.

    PubMed

    Gabos, Peter G; Inan, Muharrem; Thacker, Mihir; Borkhu, Buttugs

    2012-01-15

    Retrospective case-control study. To examine the postoperative complications of posterior spinal fusion in a population of patients with Rett syndrome (RS). Scoliosis is a common feature of RS, a progressive neurologic disorder affecting almost exclusively females. Despite this, there is little published information regarding the surgical treatment of scoliosis in this disorder. Sixteen consecutive female patients with RS treated by posterior spinal fusion and unit rod instrumentation for progressive scoliosis between 1995 and 2003 were evaluated. Only patients with a minimum of 2-year follow-up were included. Preoperative medical conditions and postoperative complications were recorded. As a control group, we randomly selected 32 spastic quadriplegic patients who underwent the identical procedure during the same time period, selected from our database and matched according to age, level of neurologic impairment, and medical complexity. There was a high rate of early medical complications in the RS patients, with 28 major and 37 minor complications. Only 1 patient did not have a major medical complication, and every patient had at least 1 minor gastrointestinal and/or respiratory complication. Major respiratory complications occurred in 10 patients (63%) and comprised 61% of all major complications. Major gastrointestinal complications occurred in 6 patients (37%) and comprised 21% of all major complications. Other major complications included disseminated intravascular coagulopathy (1 patient), subacute bacterial endocarditis (1 patient), sacral decubiti requiring surgical debridement (2 patients), and extensive bilateral heterotopic ossification of the hips (1 patient). There were no cases of instrumentation failure, pseudarthrosis, deep infection, or need for rod revision. Postoperative complication scores were similar to those in patients with spastic quadriplegic pattern cerebral palsy. Spinal fusion for scoliosis in RS can give a satisfactory technical result

  13. Scoliosis in Rett Syndrome: Progression, Comorbidities, and Predictors.

    PubMed

    Killian, John T; Lane, Jane B; Lee, Hye-Seung; Skinner, Steve A; Kaufmann, Walter E; Glaze, Daniel G; Neul, Jeffrey L; Percy, Alan K

    2017-05-01

    Scoliosis is prominent in Rett syndrome (RTT). Following the prior report from the US Natural History Study, the onset and progression of severe scoliosis (≥40° Cobb angle) and surgery were examined regarding functional capabilities and specific genotypes, addressing the hypothesis that abnormal muscle tone, poor oral feeding, puberty, and delays or absence of sitting balance and ambulation may be responsible for greater risk in RTT. The multicenter RTT Natural History Study gathered longitudinal data for classic RTT, including mutation type, scoliosis, muscle tone, sitting, ambulation, hand function, and feeding. Cox regression models were used to examine the association between scoliosis and functional characteristics. All analyses utilized SAS 9.4; two-sided P values of <0.05 were considered significant. A total of 913 females with classic RTT were included. Scoliosis frequency and severity increased with age. Severe scoliosis was found in 251 participants (27%), 113 of whom developed severe scoliosis during the follow-up assessments; 168 (18%) had surgical correction. Severe MECP2 mutations (R106W, R168X, R255X, R270X, and large deletions) showed a higher proportion of scoliosis. Individuals developing severe scoliosis or requiring surgery were less likely to sit, ambulate, or use their hands and were more likely to have begun puberty. Significant differences were absent for epilepsy rates, sleep problems, or constipation. Scoliosis requires vigilance regarding the risk factors noted, particularly specific mutations and the role of puberty and motor abilities. Bracing is recommended for moderate curves and surgery for severe curves in accordance with published guidelines for scoliosis management. Copyright © 2017 Elsevier Inc. All rights reserved.

  14. School scoliosis screening programme-a systematic review.

    PubMed

    Sabirin, J; Bakri, R; Buang, S N; Abdullah, A T; Shapie, A

    2010-12-01

    A systematic review on the effectiveness and cost-effectiveness of school scoliosis screening programme was carried out. A total of 248 relevant titles were identified, 117 abstracts were screened and 28 articles were included in the results. There was fair level of evidence to suggest that school scoliosis screening programme is safe, contributed to early detection and reduction of surgery. There was also evidence to suggest that school-based scoliosis screening programme is cost-effective. Based on the above review, screening for scoliosis among school children is recommended only for high risk group such as girls at twelve years of age.

  15. Quality of Life in Middle-Aged Patients With Idiopathic Scoliosis With Onset Before the Age of 10 Years.

    PubMed

    Danielsson, Aina J; Hallerman, Kerstin Lofdahl

    2015-09-01

    Consecutive patients with idiopathic scoliosis and diagnosis before age 10 were invited to a clinical follow-up (FU) at least 10 years after treatment with brace or surgery. To evaluate the quality of life and back problems in adulthood. Information on long-term outcome relating to health issues, back problems, and quality of life after treatment is sparse in this patient group. One hundred twenty-four patients, 69% of the original group, underwent radiography, spirometry, and answered questionnaires on back problems and quality of life. Sixty-seven patients were braced and 57 patients surgically treated. Results were compared with a population-based control group (n = 130) and with patients with adolescent idiopathic scoliosis (AIS). Nineteen patients (15%) had onset before age 6. The mean age at present FU was 41 years, time until FU mean 26 years, and curve size mean 36°. Ninety percent of the patients were working. Overall, 77% reported back pain, but analgesic use was sparse and 88% had normal back function as measured by the Oswestry Disability Index. Quality of life as measured by the SF-36 showed no differences from national norms except for a slight reduction in physical role. Back pain and back function were at the same level as in patients with AIS of the same age and curve sizes. The Scoliosis Research Society quality of life questionnaire (revised version, SRS-22r) scores were similar for both groups except for satisfaction with management, which was lower among braced patients, 3.4 versus 4.0 (p = .0017). The dyspnea grading was strongly correlated to the SRS-22r Total score and the physical composite summary score/SF-36 in all the groups. Most braced and surgically treated patients had quality of life at normal level, or just slightly below for physical function. Despite frequent back pain, back function was not severely affected. Dyspnea appears to affect quality of life negatively. III. Copyright © 2015 Scoliosis Research Society. Published by

  16. Early- versus Late-Onset Systemic Sclerosis

    PubMed Central

    Alba, Marco A.; Velasco, César; Simeón, Carmen Pilar; Fonollosa, Vicent; Trapiella, Luis; Egurbide, María Victoria; Sáez, Luis; Castillo, María Jesús; Callejas, José Luis; Camps, María Teresa; Tolosa, Carles; Ríos, Juan José; Freire, Mayka; Vargas, José Antonio; Espinosa, Gerard

    2014-01-01

    Abstract Peak age at onset of systemic sclerosis (SSc) is between 20 and 50 years, although SSc is also described in both young and elderly patients. We conducted the present study to determine if age at disease onset modulates the clinical characteristics and outcome of SSc patients. The Spanish Scleroderma Study Group recruited 1037 patients with a mean follow-up of 5.2 ± 6.8 years. Based on the mean ± 1 standard deviation (SD) of age at disease onset (45 ± 15 yr) of the whole series, patients were classified into 3 groups: age ≤30 years (early onset), age between 31 and 59 years (standard onset), and age ≥60 years (late onset). We compared initial and cumulative manifestations, immunologic features, and death rates. The early-onset group included 195 patients; standard-onset group, 651; and late-onset, 191 patients. The early-onset group had a higher prevalence of esophageal involvement (72% in early-onset compared with 67% in standard-onset and 56% in late-onset; p = 0.004), and myositis (11%, 7.2%, and 2.9%, respectively; p = 0.009), but a lower prevalence of centromere antibodies (33%, 46%, and 47%, respectively; p = 0.007). In contrast, late-onset SSc was characterized by a lower prevalence of digital ulcers (54%, 41%, and 34%, respectively; p < 0.001) but higher rates of heart conduction system abnormalities (9%, 13%, and 21%, respectively; p = 0.004). Pulmonary hypertension was found in 25% of elderly patients and in 12% of the youngest patients (p = 0.010). After correction for the population effects of age and sex, standardized mortality ratio was shown to be higher in younger patients. The results of the present study confirm that age at disease onset is associated with differences in clinical presentation and outcome in SSc patients. PMID:24646463

  17. Observation and Early Intervention in Mild Idiopathic Scoliosis via Corrective Exercises in Growing Children.

    PubMed

    Sy, Ng

    2016-01-01

    Idiopathic scoliosis afflicts 2-3% of the population. For mild curvatures, observation is the treatment of choice. Though this passive "wait and see" approach has been used for many years, the practice is inconsistent among different countries. In Anglo-Saxon countries where scoliosis specific exercises are not practised, observation is indicated for curvatures below 25° in growing children and adolescents. In countries, such as France, Germany, Italy and Poland where scoliosis specific corrective exercises are employed, only patients with no signs of maturity and with curvatures below 15° are treated by observation. Patients with curvatures between 15 - 25° are treated by scoliosis specific exercises. In view of the unpredictability of the progression of scoliosis curvatures in immature patients and the lack of knowledge of long term biomechanical repercussions of mild idiopathic scoliosis on lumbar spine and lower extremities, it is proposed that active intervention through scoliosis specific exercises rather than passive observation be employed in the treatment of mild adolescent idiopathic scoliosis.

  18. [Therapy of scoliosis from a historical perspective].

    PubMed

    Harms, J; Rauschmann, M; Rickert, M

    2015-12-01

    Scoliosis can be considered as one of the classical orthopedic diseases of the spine. The history of orthopedics is closely connected to the development of the therapy of scoliosis. In the eighteenth and the beginning of the nineteenth centuries the therapy of scoliosis was mainly a conservative corrective orthopedic treatment with a variety of corset forms and extension bed treatment. In the middle of the nineteenth century physiotherapy (movement therapy) became established as an supplementary active treatment. The first operations for treatment of scoliosis were carried out in 1839. The real success with surgical procedures for improvement in corrective options was connected to the introduction of metal spinal implants in the early 1960s.

  19. [Conservative treatment of idiopathic scoliosis with effective braces: early response to trunk asymmetry may avoid curvature progress].

    PubMed

    Matussek, J; Dingeldey, E; Wagner, F; Rezai, G; Nahr, K

    2014-07-01

    Vertical posture of the growing child requires minute central nervous control mechanisms in order to maintain symmetry of the torso in its various activities. Scoliosis describes a constant deviation in the frontal, transverse and sagittal planes from the dynamic symmetry of the trunk. Early intervention with effective bracing, physiotherapy and sports can reverse curve progression during growth spurts, once these are identified in screening. Modern braces have a derotating and reducing effect (mirror effect) on asymmetric body volumes, thus influencing the growing torso and restoring lasting symmetry. Recent data support the use of braces to reverse progressing scoliosis.

  20. Hippocampal Morphology and Distinguishing Late-Onset From Early-Onset Elderly Depression

    PubMed Central

    Ballmaier, Martina; Narr, Katherine L.; Toga, Arthur W.; Elderkin-Thompson, Virginia; Thompson, Paul M.; Hamilton, Liberty; Haroon, Ebrahim; Pham, Daniel; Heinz, Andreas; Kumar, Anand

    2010-01-01

    Objective Despite evidence for hippocampal abnormalities in elderly depression, it is unknown whether these changes are regionally specific. This study used three-dimensional mapping techniques to identify regional hippocampal abnormalities in early- and late-onset depression. Neuropsychological correlates of hippocampal morphology were also investigated. Method With high-resolution magnetic resonance imaging, hippocampal morphology was compared among elderly patients with early- (N=24) and late-onset (N=22) depression and comparison subjects (N=34). Regional structural abnormalities were identified by comparing distances, measured from homologous hippocampal surface points to the central core of each individual’s hippocampal surface model, between groups. Results Hippocampal volumes differed between depressed patients and comparison subjects but not between patients with early- and late-onset depression. However, statistical mapping results showed that regional surface contractions were significantly pronounced in late-compared to early-onset depression in the anterior of the subiculum and lateral posterior of the CA1 subfield in the left hemisphere. Significant shape differences were observed bilaterally in anterior CA1–CA3 subfields and the subiculum in patients in relation to comparison subjects. These results were similar when each disease group was separately compared to comparison subjects. Hippocampal surface contractions significantly correlated with memory measures among late- but not early-onset depressed patients or comparison subjects. Conclusions More pronounced regional volume deficits and their associations with memory in late-onset depression may suggest that these patients are more likely to develop cognitive impairment over time than individuals with early-onset depression. Mapping regional hippocampal abnormalities and their cognitive correlates may help guide research in defining risk profiles and treatment strategies. PMID:17986679

  1. Adverse Housing Conditions and Early-Onset Delinquency.

    PubMed

    Jackson, Dylan B; Newsome, Jamie; Lynch, Kellie R

    2017-09-01

    Housing constitutes an important health resource for children. Research has revealed that, when housing conditions are unfavorable, they can interfere with child health, academic performance, and cognition. Little to no research, however, has considered whether adverse housing conditions and early-onset delinquency are significantly associated with one another. This study explores the associations between structural and non-structural housing conditions and delinquent involvement during childhood. Data from the Fragile Families and Child Wellbeing Study (FFCWS) were employed in this study. Each adverse housing condition was significantly associated with early-onset delinquency. Even so, disarray and deterioration were only significantly linked to early delinquent involvement in the presence of health/safety hazards. The predicted probability of early-onset delinquency among children exposed to housing risks in the presence of health/safety hazards was nearly three times as large as the predicted probability of early-onset delinquency among children exposed only to disarray and/or deterioration, and nearly four times as large as the predicted probability of early-onset delinquency among children exposed to none of the adverse housing conditions. The findings suggest that minimizing housing-related health/safety hazards among at-risk subsets of the population may help to alleviate other important public health concerns-particularly early-onset delinquency. Addressing household health/safety hazards may represent a fruitful avenue for public health programs aimed at the prevention of early-onset delinquency. © Society for Community Research and Action 2017.

  2. Scoliosis

    MedlinePlus

    Scoliosis causes a sideways curve of your backbone, or spine. These curves are often S- or C-shaped. Scoliosis is most common in late childhood and the ... but not always. Children may get screening for scoliosis at school or during a checkup. If it ...

  3. Relation between adolescent idiopathic scoliosis and morphologic somatotypes.

    PubMed

    LeBlanc, R; Labelle, H; Rivard, C H; Poitras, B

    1997-11-01

    A prospective and controlled comparative study. To verify the difference in morphologic appearance between a group of adolescents with progressive adolescent idiopathic scoliosis and a control group of normal adolescents. In a previous retrospective study, the possibility of a relation between progressive adolescent idiopathic scoliosis and specific morphotypes was demonstrated. Fifty-two adolescent girls with progressive adolescent idiopathic scoliosis were compared with an age-matched control group of 62 unaffected girls using a classification technique based on morphologic somatotypes. Morphotypes were evaluated with standardized pre-established criteria based on Sheldon's technique. Patients with progressive adolescent idiopathic scoliosis showed significantly less mesomorphism (mean value of 0.88 +/- 0.51) than control girls (mean value of 1.72 +/- 0.52). Adolescent girls with progressive adolescent idiopathic scoliosis have a morphologic somatotype that is different from the normal adolescent population. Subjects with progressive adolescent idiopathic scoliosis are significantly less mesomorphic than control girls. This observation may be of value as a predictive factor for early identification of subjects with adolescent idiopathic scoliosis at greater risk of progression.

  4. Augmentation of third generation instrumentation with sublaminar titanium wiring in late onset idiopathic scoliosis: the surgical results and analysis of trunk balance.

    PubMed

    Benlï, I Teoman; Büyukgullu, Osman; Altuģ, Tibet; Akalin, Serdar; Kurtuluş, Burhan; Aydin, Erbil

    2004-01-01

    column has been achieved in every patient of the study group. Solid fusion mass has been observed in every patient. No early or late, local or systemic postoperative complications have been observed. Given these findings, we conclude that derotation-translation combined maneuver performed with 3rd generation instrumentation reinforced sublaminar wires is a good choice in the treatment of the late-onset idiopathic scoliosis.

  5. Scoliosis in cystic fibrosis - an appraisal

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Paling, M.R.; Spasovsky-Chernick, M.

    1982-03-01

    An unusually high prevalence (10%) of scoliosis is described in a series of 151 patients aged four years and older with cystic fibrosis. The scolioses were of the late onset (juvenile and adolescent) type, being typically thoracic with the curve convex to the right, although there was no significant preference for either sex. No direct relationship was found between the spinal curvature and the severity or distribution of the lung disease, although the worse scolioses tended to occur in patients with relatively severe pulmonary involvement. There was no evidence of metabolic bone disease as a predisposing cause. Some indication ofmore » a familial tendency towards scoliosis was apparent, and a genetic or constitutional basis is postulated with an unknown precipitating factor.« less

  6. Lateral Semicircular Canal Asymmetry in Idiopathic Scoliosis: An Early Link between Biomechanical, Hormonal and Neurosensory Theories?

    PubMed Central

    Hitier, Martin; Hamon, Michèle; Denise, Pierre; Lacoudre, Julien; Thenint, Marie-Aude; Mallet, Jean-François; Moreau, Sylvain; Quarck, Gaëlle

    2015-01-01

    Introduction Despite its high incidence and severe morbidity, the physiopathogenesis of adolescent idiopathic scoliosis (AIS) is still unknown. Here, we looked for early anomalies in AIS which are likely to be the cause of spinal deformity and could also be targeted by early treatments. We focused on the vestibular system, which is suspected of acting in AIS pathogenesis and which exhibits an end organ with size and shape fixed before birth. We hypothesize that, in adolescents with idiopathic scoliosis, vestibular morphological anomalies were already present at birth and could possibly have caused other abnormalities. Materials and Methods The vestibular organ of 18 adolescents with AIS and 9 controls were evaluated with MRI in a prospective case controlled study. We studied lateral semicircular canal orientation and the three semicircular canal positions relative to the midline. Lateral semicircular canal function was also evaluated by vestibulonystagmography after bithermal caloric stimulation. Results The left lateral semicircular canal was more vertical and further from the midline in AIS (p = 0.01) and these two parameters were highly correlated (r = -0.6; p = 0.02). These morphological anomalies were associated with functional anomalies in AIS (lower excitability, higher canal paresis), but were not significantly different from controls (p>0.05). Conclusion Adolescents with idiopathic scoliosis exhibit morphological vestibular asymmetry, probably determined well before birth. Since the vestibular system influences the vestibulospinal pathway, the hypothalamus, and the cerebellum, this indicates that the vestibular system is a possible cause of later morphological, hormonal and neurosensory anomalies observed in AIS. Moreover, the simple lateral SCC MRI measurement demonstrated here could be used for early detection of AIS, selection of children for close follow-up, and initiation of preventive treatment before spinal deformity occurs. PMID:26186348

  7. Lost human capital from early-onset chronic depression.

    PubMed

    Berndt, E R; Koran, L M; Finkelstein, S N; Gelenberg, A J; Kornstein, S G; Miller, I M; Thase, M E; Trapp, G A; Keller, M B

    2000-06-01

    Chronic depression starts at an early age for many individuals and could affect their accumulation of "human capital" (i.e., education, higher amounts of which can broaden occupational choice and increase earnings potential). The authors examined the impact, by gender, of early- (before age 22) versus late-onset major depressive disorder on educational attainment. They also determined whether the efficacy and sustainability of antidepressant treatments and psychosocial outcomes vary by age at onset and quantified the impact of early- versus late-onset, as well as never-occurring, major depressive disorder on expected lifetime earnings. The authors used logistic and multivariate regression methods to analyze data from a three-phase, multicenter, double-blind, randomized trial that compared sertraline and imipramine treatment of 531 patients with chronic depression aged 30 years and older. These data were integrated with U.S. Census Bureau data on 1995 earnings by age, educational attainment, and gender. Early-onset major depressive disorder adversely affected the educational attainment of women but not of men. No significant difference in treatment responsiveness by age at onset was observed after 12 weeks of acute treatment or, for subjects rated as having responded, after 76 weeks of maintenance treatment. A randomly selected 21-year-old woman with early-onset major depressive disorder in 1995 could expect future annual earnings that were 12%-18% lower than those of a randomly selected 21-year-old woman whose onset of major depressive disorder occurred after age 21 or not at all. Early-onset major depressive disorder causes substantial human capital loss, particularly for women. Detection and effective treatment of early-onset major depressive disorder may have substantial economic benefits.

  8. Disease evolution in late-onset and early-onset systemic lupus erythematosus.

    PubMed

    Aljohani, R; Gladman, D D; Su, J; Urowitz, M B

    2017-10-01

    Objective The objective of this study was to compare clinical features, disease activity, and outcome in late-onset versus early-onset systemic lupus erythematosus (SLE) over 5 years of follow up Method Patients with SLE since 1970 were followed prospectively according to standard protocol and tracked on a computerized database. Patients entering the cohort within one year of diagnosis constitute the inception cohort. Patients with late-onset (age at diagnosis ≥50) disease were identified and matched 1:2 based on gender and first clinic visit (±5) years with patients with early-onset disease (age at diagnosis 18-40 years). Results A total of 86 patients with late-onset disease (84.9% female, 81.4% Caucasian, mean age at SLE diagnosis ± SD 58.05 ± 7.30) and 169 patients with early-onset disease (86.4% female, 71% Caucasian, mean age at SLE diagnosis ± SD 27.80 ± 5.90) were identified. At enrollment, late-onset SLE patients had a lower total number of American College of Rheumatology (ACR) criteria, with less renal and neurologic manifestations. Mean SLE Disease Activity Index 2000 (SLEDAI-2K) scores were lower in late-onset SLE, especially renal features and anti-dsDNA positivity. Over 5 years, mean SLEDAI-2K scores decreased in both groups, while mean Systemic Lupus International Collaborating Clinics/ACR Damage Index (SDI) scores increased more significantly in the late-onset group; they developed more cardiovascular, renal, and ocular damage, and had higher prevalence of cardiovascular risk factors. Conclusion Although the late-onset SLE group had a milder presentation and less active disease, with the evolution of disease, they developed more organ damage likely as a consequence of cardiovascular risk factors and aging.

  9. Factors Associated With Scoliosis in Schoolchildren: a Cross-Sectional Population-Based Study

    PubMed Central

    Baroni, Marina Pegoraro; Sanchis, Geronimo José Bouzas; de Assis, Sanderson José Costa; dos Santos, Rafael Gomes; Pereira, Silvana Alves; Sousa, Klayton Galante; Lopes, Johnnatas Mikael

    2015-01-01

    Background The present study aimed to investigate the prevalence of scoliosis and to analyze the factors associated with scoliosis in schoolchildren aged between 7 and 17 years. Methods This is a cross-sectional and quantitative study with stratified random selection of public school students in the city of Santa Cruz, Brazil. The presence of scoliosis was examined, as well as the flexibility of the posterior muscle chain, socioeconomic characteristics, anthropometry, lifestyle habits, sexual maturation, and ergonomics of school furniture. In order to identify factors associated with scoliosis, the variables were divided in biological, socioeconomic, lifestyle, and ergonomic factors, and crude and adjusted prevalence ratios (PRs) were estimated by means of Poisson regression analysis. Results Two hundred and twelve pupils participated in this study (mean age 11.61 years, 58% female). The prevalence of scoliosis was 58.1% (n = 123) and associated with female sex (PR 2.54; 95% CI, 1.33–4.86) and age between 13 and 15 years (PR 5.35; 95% CI, 2.17–13.21). Sleeping in a hammock was inversely associated with scoliosis (PR 0.44; 95% CI, 0.23–0.81). Conclusions Scoliosis seems to be positively associated with female sex and age between 13 and 15 years, whereas the habit of sleeping in a hammock is negatively associated with the onset of scoliosis. PMID:25716134

  10. Severe progressive scoliosis in an adult female possibly secondary thoracic surgery in childhood treated with scoliosis specific Schroth physiotherapy: Case presentation.

    PubMed

    Lebel, Andrea; Lebel, Victoria Ashley

    2016-01-01

    Scoliosis is a complex three-dimensional (3D) spinal deformity. Acquired scoliosis in early childhood may progress into adulthood and pose an increased risk of health problems and reduction in quality of life. In Canada, patients with scoliosis are not referred for physiotherapeutic scoliosis-specific exercises (PSSE) despite the fact that Schroth physiotherapy, a scoliosis-specific 3D posture training and exercise program, can be effective in reducing pain and improving scoliosis curves, vital capacity, and overall quality of life in scoliosis patients. This case presentation shows that indeed adult curve progression can be stopped and even reversed with scoliosis specific Schroth physiotherapy (SSSPT) in an adult patient with scoliosis. This is a retrospective case presentation involving a 23-year-old female scoliosis patient who began an outpatient Schroth physiotherapy exercise program and was initially monitored monthly and then annually for improvement in measurements of angle of trunk rotation (ATR) and chest expansion and improvement in vital capacity measured with incentive spirometry. Photos were taken to document body image periodically throughout Schroth physiotherapy treatment. Additionally, the patient completed SRS-22 quality of life questionnaires every 2 years to evaluate daily function, pain, self-imagine, mental health, and scoliosis management satisfaction. Within one month of beginning SSSPT, the patient reported no more back pain and within 2 months, reported improved breathing. The patient also benefitted from improved chest expansion, reduced scoliosis curve angles (measured in Cobb degrees), increased vital capacity, decreased ATR, and higher SRS-22 scores. She became more active and resumed all athletic activity within 8 months of beginning Schroth physiotherapy. Adult scoliosis patients are not routinely referred for PSSE in Canada, even though Schroth physiotherapy, a form of PSSE, is shown to be effective in this case presentation

  11. Genetics Home Reference: early-onset primary dystonia

    MedlinePlus

    ... such as seizures or a loss of intellectual function (dementia). Early-onset primary dystonia does not affect a person's intelligence. On ... of torsinA. The altered protein's effect on the function of nerve cells in the brain ... with early-onset primary dystonia do not have a loss of nerve ...

  12. Genetic Risk Score Analysis in Early-Onset Bipolar Disorder

    PubMed Central

    Croarkin, Paul E.; Luby, Joan L.; Cercy, Kelly; Geske, Jennifer R.; Veldic, Marin; Simonson, Matthew; Joshi, Paramjit T.; Wagner, Karen Dineen; Walkup, John T.; Nassan, Malik M.; Cuellar-Barboza, Alfredo B.; Casuto, Leah; McElroy, Susan L.; Jensen, Peter S.; Frye, Mark A.; Biernacka, Joanna M.

    2018-01-01

    Objective In this study, we performed a candidate genetic risk score (GRS) analysis of early-onset bipolar disorder. Method Treatment of Early Age Mania (TEAM) study enrollment and sample collection took place from 2003–2008. Mayo Clinic Bipolar Biobank samples were collected from 2009–2013. Genotyping and analyses for the present study took place from 2013–2014. The diagnosis of bipolar disorder was based on Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision criteria. Eight single-nucleotide polymorphisms (SNPs), previously reported in genome-wide association studies to be associated with bipolar disorder, were chosen for GRS analysis in early-onset bipolar disease. These SNPs map to 3 genes: CACNA1C (calcium channel, voltage-dependent, L type, alpha 1C subunit), ANK3 (ankyrin-3, node of Ranvier [ankyrin G]), and ODZ4 (teneurin transmembrane protein 4 [formerly “odz, odd Oz/ten-m homolog 4 {Drosophila}, ODZ4”]). The 8 candidate SNPs were genotyped in patients from the TEAM study (n=69), adult patients with bipolar disorder (n=732) including a subset with early-onset illness [n=192]), and healthy controls (n=776). GRS analyses were performed comparing early-onset cases with controls. In addition, associations of early-onset BD with individual SNPs and haplotypes were explored. Results GRS analysis revealed associations of the risk score with early-onset bipolar disorder (P=.01). Gene-level haplotype analysis comparing TEAM patients with controls suggested association of early-onset bipolar disorder with a CACNA1C haplotype (global test, P=.01). At the level of individual SNPs, comparison of TEAM cases with healthy controls provided nominally significant evidence for association of SNP rs10848632 in CACNA1C with early-onset bipolar disorder (P=.017), which did not remain significant after correction for multiple comparisons. Conclusion These preliminary analyses suggest that previously identified bipolar disorder risk loci

  13. Genetic Risk Score Analysis in Early-Onset Bipolar Disorder.

    PubMed

    Croarkin, Paul E; Luby, Joan L; Cercy, Kelly; Geske, Jennifer R; Veldic, Marin; Simonson, Matthew; Joshi, Paramjit T; Wagner, Karen Dineen; Walkup, John T; Nassan, Malik M; Cuellar-Barboza, Alfredo B; Casuto, Leah; McElroy, Susan L; Jensen, Peter S; Frye, Mark A; Biernacka, Joanna M

    In this study, we performed a candidate genetic risk score (GRS) analysis of early-onset bipolar disorder (BD). Treatment of Early Age Mania (TEAM) study enrollment and sample collection took place from 2003 to 2008. Mayo Clinic Bipolar Biobank samples were collected from 2009 to 2013. Genotyping and analyses for the present study took place from 2013 to 2014. The diagnosis of BD was based on Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision criteria. Eight single-nucleotide polymorphisms (SNPs), previously reported in genome-wide association studies to be associated with BD, were chosen for GRS analysis in early-onset bipolar disease. These SNPs map to 3 genes: CACNA1C (calcium channel, voltage-dependent, L type, alpha 1C subunit), ANK3 (ankyrin-3, node of Ranvier [ankyrin G]), and ODZ4 (teneurin transmembrane protein 4 [formerly "odz, odd Oz/10-m homolog 4 {Drosophila}, ODZ4"]). The 8 candidate SNPs were genotyped in patients from the TEAM study (n = 69); adult patients with BD (n = 732), including a subset with early-onset illness (n = 192); and healthy controls (n = 776). GRS analyses were performed to compare early-onset cases with controls. In addition, associations of early-onset BD with individual SNPs and haplotypes were explored. GRS analysis revealed associations of the risk score with early-onset BD (P = .01). Gene-level haplotype analysis comparing TEAM patients with controls suggested association of early-onset BD with a CACNA1C haplotype (global test, P = .01). At the level of individual SNPs, comparison of TEAM cases with healthy controls provided nominally significant evidence for association of SNP rs10848632 in CACNA1C with early-onset BD (P = .017), which did not remain significant after correction for multiple comparisons. These preliminary analyses suggest that previously identified BD risk loci, especially CACNA1C, have a role in early-onset BD, possibly with stronger effects than for late-onset BD.

  14. Evidence for a genetic etiology of early-onset delinquency.

    PubMed

    Taylor, J; Iacono, W G; McGue, M

    2000-11-01

    Age at onset of antisocial behavior discriminates persistent and transitory offenders. The authors proposed that early-onset delinquency has an underlying genetic influence that manifests in problems related to inhibition, whereas late-onset delinquency is more environmentally mediated. To test these notions, they selected 36 early starters, 86 late starters, and 25 nondelinquent controls from a large sample of 11-year-old twins and compared them on several measures related to inhibition and a peer group measure. As expected, early starters had more psychological, behavioral, and emotional problems related to inhibition than late starters and controls. A longitudinal analysis indicated an increase an antisocial behavior among peers of late starters shortly before their delinquency onset. Family history data and a twin analysis provided evidence of greater genetic influence on early-onset than late-onset delinquency.

  15. Chorioamnionitis and Culture-Confirmed, Early-Onset Neonatal Infections

    PubMed Central

    Hansen, Nellie I.; Schrag, Stephanie J.; Hale, Ellen; Van Meurs, Krisa; Sánchez, Pablo J.; Cantey, Joseph B.; Faix, Roger; Poindexter, Brenda; Goldberg, Ronald; Bizzarro, Matthew; Frantz, Ivan; Das, Abhik; Benitz, William E.; Shane, Andi L.; Higgins, Rosemary; Stoll, Barbara J.

    2016-01-01

    BACKGROUND: Current guidelines for prevention of neonatal group B streptococcal disease recommend diagnostic evaluations and empirical antibiotic therapy for well-appearing, chorioamnionitis-exposed newborns. Some clinicians question these recommendations, citing the decline in early-onset group B streptococcal disease rates since widespread intrapartum antibiotic prophylaxis implementation and potential antibiotic risks. We aimed to determine whether chorioamnionitis-exposed newborns with culture-confirmed, early-onset infections can be asymptomatic at birth. METHODS: Multicenter, prospective surveillance for early-onset neonatal infections was conducted during 2006–2009. Early-onset infection was defined as isolation of a pathogen from blood or cerebrospinal fluid collected ≤72 hours after birth. Maternal chorioamnionitis was defined by clinical diagnosis in the medical record or by histologic diagnosis by placental pathology. Hospital records of newborns with early-onset infections born to mothers with chorioamnionitis were reviewed retrospectively to determine symptom onset. RESULTS: Early-onset infections were diagnosed in 389 of 396 586 live births, including 232 (60%) chorioamnionitis-exposed newborns. Records for 229 were reviewed; 29 (13%) had no documented symptoms within 6 hours of birth, including 21 (9%) who remained asymptomatic at 72 hours. Intrapartum antibiotic prophylaxis exposure did not differ significantly between asymptomatic and symptomatic infants (76% vs 69%; P = .52). Assuming complete guideline implementation, we estimated that 60 to 1400 newborns would receive diagnostic evaluations and antibiotics for each infected asymptomatic newborn, depending on chorioamnionitis prevalence. CONCLUSIONS: Some infants born to mothers with chorioamnionitis may have no signs of sepsis at birth despite having culture-confirmed infections. Implementation of current clinical guidelines may result in early diagnosis, but large numbers of uninfected

  16. Scoliosis Screening in Schools.

    ERIC Educational Resources Information Center

    New York State Education Dept., Albany. Div. of Pupil Personnel Services.

    The booklet outlines New York state school policy and procedures for screening students for scoliosis, lateral curvature of the spine. It is explained that screening is designed to discover spinal deformities early enough to prevent surgery. Planning aspects, including organizing a planning team for the school district, are discussed. Among…

  17. [Bracing in Adolescent Idiopathic Scoliosis].

    PubMed

    Lo, Yi-Fang; Huang, Yu-Chu

    2017-04-01

    Scoliosis is a common medical problem, with an incidence of between 0.47% and 5.2% in the general population globally. Adolescent idiopathic scoliosis (AIS) accounts for nearly 80% of all scoliosis. Young people with AIS often experience negative social consequences in association with their condition. Without proper and timely treatment, the potential resulting disabilities range from trunk deformity, pain, and neurological complications to compromised cardiopulmonary function, all of which may cause lifelong suffering. Scoliosis may be treated either conservatively or surgically, based on the severity of the disease. Bracing is the most widely adopted method of conservative treatment. However, the main goal of bracing is to inhibit the progression of the spinal curvature rather than to cure scoliosis. The clinical effectiveness of bracing in Taiwan has often been underutilized as a result of financial or other factors such as the availability of the treatment. The purpose of the present review is to clarify the effectiveness of bracing for AIS by elucidating the pathophysiology of scoliosis and examining the recent clinical evidence. The importance of preventative care and the unique contribution of nursing care to treatment has to date been under-recognized. The positive support that nurses provide to the families of the patients during the early phases of treatment as well as to the patients themselves, including helping them exercise appropriately and wear the brace correctly, is an essential component of effective treatment. Learning how to work with and to adapt to the brace being part of the body is an important part of the treatment as well as a way to avoid pain. Nurses are in an ideal position to facilitate this learning process and, overall, to provide health education.

  18. Cost analysis of magnetically controlled growing rods compared with traditional growing rods for early-onset scoliosis in the US: an integrated health care delivery system perspective

    PubMed Central

    Polly, David W; Ackerman, Stacey J; Schneider, Karen; Pawelek, Jeff B; Akbarnia, Behrooz A

    2016-01-01

    Purpose Traditional growing rod (TGR) for early-onset scoliosis (EOS) is effective but requires repeated invasive surgical lengthenings under general anesthesia. Magnetically controlled growing rod (MCGR) is lengthened noninvasively using a hand-held magnetic external remote controller in a physician office; however, the MCGR implant is expensive, and the cumulative cost savings have not been well studied. We compared direct medical costs of MCGR and TGR for EOS from the US integrated health care delivery system perspective. We hypothesized that over time, the MCGR implant cost will be offset by eliminating repeated TGR surgical lengthenings. Methods For both TGR and MCGR, the economic model estimated the cumulative costs for initial implantation, lengthenings, revisions due to device failure, surgical-site infections, device exchanges (at 3.8 years), and final fusion, over a 6-year episode of care. Model parameters were estimated from published literature, a multicenter EOS database of US institutions, and interviews. Costs were discounted at 3.0% annually and represent 2015 US dollars. Results Of 1,000 simulated patients over 6 years, MCGR was associated with an estimated 270 fewer deep surgical-site infections and 197 fewer revisions due to device failure compared with TGR. MCGR was projected to cost an additional $61 per patient over the 6-year episode of care compared with TGR. Sensitivity analyses indicated that the results were sensitive to changes in the percentage of MCGR dual rod use, months between TGR lengthenings, percentage of hospital inpatient (vs outpatient) TGR lengthenings, and MCGR implant cost. Conclusion Cost neutrality of MCGR to TGR was achieved over the 6-year episode of care by eliminating repeated TGR surgical lengthenings. To our knowledge, this is the first cost analysis comparing MCGR to TGR – from the US provider perspective – which demonstrates the efficient provision of care with MCGR. PMID:27695352

  19. Scoliosis: review of types of curves, etiological theories and conservative treatment.

    PubMed

    Shakil, Halima; Iqbal, Zaheen A; Al-Ghadir, Ahmad H

    2014-01-01

    Scoliosis is the deviation in the normal vertical spine. Although there are numerous studies available about treatment approaches for scoliosis, the numbers of studies that talk about its etiology and pathology are limited. Aim of this study was to discuss the different types of scoliosis; its curves and etiological theories; and to note their implication on its treatment. We examined various electronic databases including Pub MED, Medline, Cinhal, Cochrane library and Google scholar using key words "scoliosis", "etiology", "pathology" and "conservative treatment". References of obtained articles were also examined for cross references. The search was limited to articles in English language. A total of 145 papers, about Prevalence, History, Symptoms, classification, Biomechanics, Pathogenesis, Kinematics and Treatment of scoliosis were identified to be relevant. To choose the appropriate treatment approach for scoliosis we need to understand its etiology and pathogenesis first. Early intervention with conservative treatment like physiotherapy and bracing can prevent surgery.

  20. Early-onset obsessive-compulsive disorder and personality disorders in adulthood.

    PubMed

    Maina, Giuseppe; Albert, Umberto; Salvi, Virginio; Pessina, Enrico; Bogetto, Filippo

    2008-03-15

    Obsessive-compulsive disorder (OCD) often emerges in childhood or adolescence. The aim of the present study was to evaluate whether adult patients with prepuberal onset differ from subjects with later onset in terms of personality disorder comorbidity. The Structured Clinical Interview for DSM-IV Axis II Disorders was used to assess 148 patients with a principal diagnosis of OCD according to the Structured Clinical Interview for DSM-IV Axis I Disorders. The following two subgroups of subjects were selected according to the age at onset of symptomatology: patients with an early-onset (< or =10 years), and patients with a later onset (> or =17 years). Of the 148 patients screened for the present study, 33 (22.3%) had an early onset and 1369 (46.6%) had a later onset. With regard to personality disorders, early-onset patients showed more OC personality disorders (OCPD) than later onset patients. Our finding suggests that OCD in childhood increases the risk for developing OCPD in adulthood, or that early-onset OCD and OCPD share a common pathogenesis.

  1. Genetic Evaluation for the Scoliosis Gene(s) in Patients with Neurofibromatosis 1 and Scoliosis

    DTIC Science & Technology

    2015-10-01

    AWARD NUMBER: W81XWH-10-1-0469 TITLE: Genetic Evaluation for the Scoliosis Gene(s) in Patients with Neurofibromatosis 1 and Scoliosis...31Jul2015 4. TITLE AND SUBTITLE 5a. CONTRACT NUMBER "Genetic Evaluation for the Scoliosis Gene(s) in Patients with Neurofibromatosis 1 and Scoliosis." 5b...ABSTRACT Dystrophic or non-dystrophic forms of scoliosis are skeletal manifestations of Neurofibromatosis type 1 (NF1). Dystrophic scoliosis has a more

  2. Management and outcomes of scoliosis in children with congenital diaphragmatic hernia.

    PubMed

    Antiel, Ryan M; Riley, John S; Cahill, Patrick J; Campbell, Robert M; Waqar, Lindsay; Herkert, Lisa M; Rintoul, Natalie E; Peranteau, William H; Flake, Alan W; Adzick, N Scott; Hedrick, Holly L

    2016-12-01

    The purpose of this study was to evaluate the management and outcomes of CDH patients with scoliosis. From January 1996 to August 2015, 26 of 380 (7%) CDH patients were diagnosed with scoliosis. Six (23%) were prenatally diagnosed by ultrasound, and 9 (35%) were diagnosed postnatally. The remaining 11 (42%) developed scoliosis after discharge. Mean follow-up was 6.6years. Among the 15 patients with congenital scoliosis, there were 2 (13%) perinatal deaths. Five of the 13 (38%) survivors required orthopedic surgery, and 2 have required bracing. The mean age at initial surgery was 7years. These five children underwent an average of 2.8 (range 1-7) expansions or revisions. All surgical patients required supplemental oxygen at 28days of life, and 1 required a tracheostomy. None of the 11 patients who developed scoliosis later in life required surgery, but 3 have required bracing. Six of the 11 (55%) required a patch repair for CDH compared to 158 of 264 (60%) CDH patients without scoliosis (p=0.73). Early diagnosis of scoliosis in CDH patients is associated with a high rate of surgery. There was not a higher incidence of patch repair among patients who developed scoliosis. Prognosis. Retrospective study, level II. Copyright © 2016. Published by Elsevier Inc.

  3. Intrauterine growth restriction and placental gene expression in severe preeclampsia, comparing early-onset and late-onset forms.

    PubMed

    Nevalainen, Jaana; Skarp, Sini; Savolainen, Eeva-Riitta; Ryynänen, Markku; Järvenpää, Jouko

    2017-10-26

    To evaluate placental gene expression in severe early- or late-onset preeclampsia with intrauterine growth restriction compared to controls. Chorionic villus sampling was conducted after cesarean section from the placentas of five women with early- or late-onset severe preeclampsia and five controls for each preeclampsia group. Microarray analysis was performed to identify gene expression differences between the groups. Pathway analysis showed over-representation of gene ontology (GO) biological process terms related to inflammatory and immune response pathways, platelet development, vascular development, female pregnancy and reproduction in early-onset preeclampsia. Pathways related to immunity, complement and coagulation cascade were overrepresented in the hypergeometric test for the Kyoto Encyclopedia of Genes and Genomes (KEGG) database. Ten genes (ABI3BP, C7, HLA-G, IL2RB, KRBOX1, LRRC15, METTL7B, MPP5, RFLNB and SLC20A) had a ≥±1 fold expression difference in severe early-onset preeclampsia group compared to early controls. There were 362 genes that had a ≥±1 fold expression difference in severe early-onset preeclampsia group compared to late-onset preeclampsia group including ABI3BP, C7, HLA-G and IL2RB. There are significant differences in placental gene expression between severe early- and late-onset preeclampsia when both are associated with intrauterine growth restriction. ABI3BP, C7, HLA-G and IL2RB might contribute to the development of early form of severe preeclampsia.

  4. Obstetrical outcomes in patients with early onset gestational diabetes.

    PubMed

    Gupta, Simi; Dolin, Cara; Jadhav, Ashwin; Chervenak, Judith; Timor-Tritsch, Ilan; Monteagudo, Ana

    2016-01-01

    The objective of this study was to characterize patients with early onset gestational diabetes and compare outcomes to patients diagnosed with standard gestational diabetes and pregestational diabetes. This is a retrospective cohort study of patients diagnosed with gestational or pregestational diabetes. All patients received a glucose challenge test at their first prenatal visit to diagnose early onset gestational diabetes and were recommended to have postpartum glucose tolerance tests to detect undiagnosed type 2 diabetes. Outcomes were compared between patients with early onset gestational diabetes and both standard gestational diabetes and pregestational diabetes with p < 0.05 was used for significance. Four hundred and twenty-four patients met the inclusion criteria. Nine percent of the patients with early onset gestational diabetes were found to have undiagnosed type 2 diabetes based on postpartum testing and 91% to have resolution in the postpartum period. No patient with early onset gestational diabetes and resolution in the postpartum period had abnormal screening for renal or ophthalmologic disease, but 5% had abnormal fetal echocardiograms. These patients were more likely to require pharmacotherapy for glycemic control than patients with standard gestational diabetes and less likely than patients with pregestational diabetes (55% versus 39% versus 81%). Most patients diagnosed with early onset gestational diabetes do not have undiagnosed type 2 diabetes but do have unique characteristics and obstetrical outcomes.

  5. Scoliosis - resources

    MedlinePlus

    Resources - scoliosis ... The following organizations are good resources for information on scoliosis : American Academy of Orthopaedic Surgeons -- orthoinfo.aaos.org/topic.cfm?topic=a00626 US National Library of Medicine -- ...

  6. Direct costs associated with the management of progressive early onset scoliosis: estimations based on gold standard technique or with magnetically controlled growing rods.

    PubMed

    Charroin, C; Abelin-Genevois, K; Cunin, V; Berthiller, J; Constant, H; Kohler, R; Aulagner, G; Serrier, H; Armoiry, X

    2014-09-01

    The main disadvantage of the surgical management of early onset scoliosis (EOS) using conventional growing rods is the need for iterative surgical procedures during childhood. The emergence of an innovative device using distraction-based magnetically controlled growing rods (MCGR) provides the opportunity to avoid such surgeries and therefore to improve the patient's quality of life. Despite the high cost of MCGR and considering its potential impact in reducing hospital stays, the use of MCGR could reduce medical resource consumption in a long-term view in comparison to traditional growing rod (TGR). A cost-simulation model was constructed to assess the incremental cost between the two strategies. The cost for each strategy was estimated based on probability of medical resource consumption determined from literature search as well as data from EOS patients treated in our centre. Some medical expenses were also estimated from expert interviews. The time horizon chosen was 4 years as from first surgical implantation. Costs were calculated in the perspective of the French sickness fund (using rates from year 2013) and were discounted by an annual rate of 4%. Sensitivity analyses were conducted to test model strength to various parameters. With a time horizon of 4 years, the estimated direct costs of TGR and MCGR strategies were 49,067 € and 42,752 €, respectively leading to an incremental costs of 6135 € in favour of MCGR strategy. In the first case, costs were mainly represented by hospital stays expenses (83.9%) whereas in the other the cost of MCGR contributed to 59.5% of the total amount. In the univariate sensitivity analysis, the tariffs of hospital stays, the tariffs of the MCG, and the frequency of distraction surgeries were the parameters with the most important impact on incremental cost. MCGR is a recent and promising innovation in the management of severe EOS. Besides improving the quality of life, its use in the treatment of severe EOS is likely to

  7. Family history and its association to curve size and treatment in 1,463 patients with idiopathic scoliosis.

    PubMed

    Grauers, Anna; Danielsson, Aina; Karlsson, Magnus; Ohlin, Acke; Gerdhem, Paul

    2013-11-01

    To study family history in relation to curve severity, gender, age at diagnosis and treatment in idiopathic scoliosis. A self-assessment questionnaire on family history of scoliosis was administered to 1,463 untreated, brace or surgically treated idiopathic scoliosis patients. Out of the 1,463 patients, 51 % had one or more relatives with scoliosis. There was no significant difference between females and males, nor between juvenile and adolescent study participants in this respect (p = 0.939 and 0.110, respectively). There was a significant difference in maximum curve size between patients with one or more relatives with scoliosis (median 35°, interquartile range 25) and patients without any relative with scoliosis (median 32°, interquartile range 23) (p = 0.022). When stratifying patients according to treatment (observation, brace treatment or surgery), we found that it was more common to have a relative with scoliosis among the treated patients (p = 0.011). The OR for being treated was 1.32 (95% CI 1.06-1.64) when the patient had a relative with scoliosis, compared to not having. Larger curve sizes were found in patients with a family history of scoliosis than in the ones without. No relation between family history and gender or between family history and age at onset of idiopathic scoliosis was found. Although the presence of a family history of scoliosis may not be a strong prognostic risk factor, it indicates that these patients are at higher risk of developing a more severe curve.

  8. Effect of physical therapy scoliosis specific exercises using breathing pattern on adolescent idiopathic scoliosis.

    PubMed

    Yoon, Sungyoung; Rhee, Min-Hyung

    2016-11-01

    [Purpose] This study was performed to confirm physical therapy scoliosis specific exercises on adolescent idiopathic scoliosis patients. [Subject and Methods] A 15-year-old male middle school student with scoliosis. Cobb's angle, angle of rotation of the spine, and breathing pattern were measured before and after 8 weeks training. [Results] After 8 weeks training, Cobb's angle, angle of rotation of the spine, and breathing pattern were improved better. [Conclusion] These results indicate that physical therapy scoliosis specific exercises improves scoliosis curves and could provide an effective intervention and management of scoliosis.

  9. Age at onset of DSM-IV pathological gambling in a non-treatment sample: Early- versus later-onset.

    PubMed

    Black, Donald W; Shaw, Martha; Coryell, William; Crowe, Raymond; McCormick, Brett; Allen, Jeff

    2015-07-01

    Pathological gambling (PG) is a prevalent and impairing public health problem. In this study we assessed age at onset in men and women with PG and compared the demographic and clinical picture of early- vs. later-onset individuals. We also compared age at onset in PG subjects and their first-degree relatives with PG. Subjects with DSM-IV PG were recruited during the conduct of two non-treatment clinical studies. Subjects were evaluated with structured interviews and validated questionnaires. Early-onset was defined as PG starting prior to age 33years. Age at onset of PG in the 255 subjects ranged from 8 to 80years with a mean (SD) of 34.0 (15.3) years. Men had an earlier onset than women. 84% of all subjects with PG had developed the disorder by age 50years. Early-onset subjects were more likely to be male, to prefer action games, and to have substance use disorders, antisocial personality disorder, attention deficit/hyperactivity disorder, trait impulsiveness, and social anxiety disorder. Later-onset was more common in women and was associated with a preference for slots and a history of sexual abuse. Age at onset of PG is bimodal and differs for men and women. Early-onset PG and later-onset PG have important demographic and clinical differences. The implications of the findings are discussed. Copyright © 2015 Elsevier Inc. All rights reserved.

  10. Unusual early-onset Huntingtons disease.

    PubMed

    Vargas, Antonio P; Carod-Artal, Francisco J; Bomfim, Denise; Vázquez-Cabrera, Carolina; Dantas-Barbosa, Carmela

    2003-06-01

    Huntington's disease is an autosomal dominant progressive neurodegenerative disorder characterized by involuntary movements, cognitive decline, and behavioral disorders leading to functional disability. In contrast to patients with adult onset, in which chorea is the major motor abnormality, children often present with spasticity, rigidity, and significant intellectual decline associated with a more rapidly progressive course. An unusual early-onset Huntington's disease case of an 11-year-old boy with severe hypokinetic/rigid syndrome appearing at the age of 2.5 years is presented. Clinical diagnosis was confirmed by polymerase chain reaction study of the expanded IT-15 allele with a compatible size of 102 cytosine-adenosine-guanosine repeats L-Dopa mildly ameliorated rigidity, bradykinesia, and dystonia. We conclude that Huntington's disease should be included in the differential diagnoses of regressive syndromes of early childhood.

  11. Genetic Evaluation for the Scoliosis Gene(s) in Patients with Neurofibromatosis 1 and Scoliosis

    DTIC Science & Technology

    2014-08-01

    Genetic Evaluation for the Scoliosis Gene(s) in Patients with Neurofibromatosis 1 and Scoliosis PRINCIPAL INVESTIGATOR: David W. Polly, Jr... Neurofibromatosis 1 and Scoliosis 5b. GRANT NUMBER W81XWH-10-1-0469 5c. PROGRAM ELEMENT NUMBER 6. AUTHOR(S) David. W. Polly Jr., MD 5d. PROJECT...dystrophic scoliosis is one of most common skeletal manifestations of Neurofibromatosis type 1. Dystrophic scoliosis has a more progressive and

  12. The Prevalence of Idiopathic Scoliosis in Eleven Year-Old Korean Adolescents: A 3 Year Epidemiological Study

    PubMed Central

    Lee, Jin-Young; Moon, Seong-Hwan; Kim, Han Jo; Suh, Bo-Kyung; Nam, Ji Hoon; Jung, Jae Kyun; Lee, Hwan-Mo

    2014-01-01

    Purpose School screening allows for early detection and early treatment of scoliosis, with the purpose of reducing the number of patients requiring surgical treatment. Children between 10 and 14 years old are considered as good candidates for school screening tests of scoliosis. The purpose of the present study was to assess the epidemiological findings of idiopathic scoliosis in 11-year-old Korean adolescents. Materials and Methods A total of 37856 11-year-old adolescents were screened for scoliosis. There were 17110 girls and 20746 boys. Adolescents who were abnormal by Moiré topography were subsequently assessed by standardized clinical and radiological examinations. A scoliotic curve was defined as 10° or more. Results The prevalence of scoliosis was 0.19% and most of the curves were small (10° to 19°). The ratio of boys to girls was 1:5.5 overall. Sixty adolescents (84.5%) exhibited single curvature. Thoracolumbar curves were the most common type of curve identified, followed by thoracic and lumbar curves. Conclusion The prevalence of idiopathic scoliosis among 11-year-old Korean adolescents was 0.19%. PMID:24719147

  13. Sildenafil citrate therapy for severe early-onset intrauterine growth restriction.

    PubMed

    von Dadelszen, P; Dwinnell, S; Magee, L A; Carleton, B C; Gruslin, A; Lee, B; Lim, K I; Liston, R M; Miller, S P; Rurak, D; Sherlock, R L; Skoll, M A; Wareing, M M; Baker, P N

    2011-04-01

    Sildenafil citrate therapy for severe early-onset intrauterine growth restriction. BJOG 2011;118:624-628. Currently, there is no effective therapy for severe early-onset intrauterine growth restriction (IUGR). Sildenafil citrate vasodilates the myometrial arteries isolated from women with IUGR-complicated pregnancies. Women were offered Sildenafil (25 mg three times daily until delivery) if their pregnancy was complicated by early-onset IUGR [abdominal circumference (AC)< 5th percentile] and either the gestational age was <25(+0) weeks or an estimate of the fetal weight was <600 g (excluding known fetal anomaly/syndrome and/or planned termination). Sildenafil treatment was associated with increased fetal AC growth [odds ratio, 12.9; 95% confidence interval (CI), 1.3, 126; compared with institutional Sildenafil-naive early-onset IUGR controls]. Randomised controlled trial data are required to determine whether Sildenafil improves perinatal outcomes for early-onset IUGR-complicated pregnancies. © 2011 The Authors BJOG An International Journal of Obstetrics and Gynaecology © 2011 RCOG.

  14. Theory of Mind differences in older patients with early-onset and late-onset paranoid schizophrenia.

    PubMed

    Smeets-Janssen, M M J; Meesters, P D; Comijs, H C; Eikelenboom, P; Smit, J H; de Haan, L; Beekman, A T F; Stek, M L

    2013-11-01

    Theory of Mind (ToM) is considered an essential element of social cognition. In younger schizophrenia patients, ToM impairments have extensively been demonstrated. It is not clear whether similar impairments can be found in older schizophrenia patients and if these impairments differ between older patients with early-onset and late-onset schizophrenia. Theory of Mind abilities were assessed using the Hinting Task in 15 older patients (age 60 years and older) with early-onset paranoid schizophrenia, 15 older patients with late-onset paranoid schizophrenia and 30 healthy controls. ANCOVA was performed to test differences between groups. Analyses were adjusted for level of education. Effect sizes, partial eta squared (ε(2) ), were computed as an indication of the clinical relevance of the findings. Patients with early-onset schizophrenia scored significantly lower on the Hinting Task (mean 16.1; SD 4.3) compared with patients with late-onset schizophrenia (mean 18.6; SD 1.5) and with healthy controls (mean 19.0; SD 1.4). The effect size of this difference was large (ε(2)  = 0.2). These results suggest that ToM functioning may be a protective factor modulating the age at onset of psychosis. Further studies into the relationship between social cognition and onset age of psychosis are warranted. Copyright © 2013 John Wiley & Sons, Ltd.

  15. Comparing Characteristics of Early-Onset Injection Drug Users to Those With Late-Onset Injection in Kermanshah, Iran.

    PubMed

    Jorjoran Shushtari, Zahra; Noroozi, Alireza; Mirzazadeh, Ali; Ahounbar, Elahe; Hajbi, Ahmad; Najafi, Mohammad; Bazrafshan, Ali; Farhadi, Mohammad Hossin; Farhoudian, Ali; Higgs, Peter; Shahboulagh, Farahnaz Mohammadi; Waye, Katherine; Noroozi, Mehdi

    2017-05-12

    Characteristics and behaviors of early-onset injection drug users are under studied topics in Iran. This study aimed to identify and compare the demographic characteristics as well as the drug using behaviors of early-onset and late-onset injection drug users in Kermanshah, West Iran. In this cross-sectional study using snowball and convenience sampling, we recruited 450 people during the Fall of 2014 from two drop in centers in Kermanshah, Iran. We collected data through face-to-face interviews. Early-onset injection is defined as whether the person reported their first injection at 22 years of age or younger. Subsequently, late-onset injection is defined as 23 years of age or older. We compared the characteristics of the two groups through both univariate and multiple logistic analyses. Overall, 54% (CI 95%: 44.3%, 62.2%) were early injectors. After controlling for low socioeconomic status, initiation of drug use at a young age, multiple drug use and methamphetamine use were all significantly associated with a higher likelihood of early-onset injection. Additionally, early-onset injection was associated with recent syringe borrowing (OR = 2.6, p = 0.001), recent syringe lending (OR = 1.4, p = 0.01), recent cooker sharing (OR = 3.2, p = 0.01) and injecting two or more times a day (OR = 2.2, p = 0.04). Early-onset injectors were more likely to report a lower socioeconomic status, initiation of first drug use at a younger age, using methamphetamine alongside polydrug use, and engaging in higher risk taking behaviors like borrowing needles. With these associations, the study emphasizes the need for drug-prevention programs to focus on the transition to injection drug use at younger ages.

  16. Late onset dysthymic disorder and major depression differ from early onset dysthymic disorder and major depression in elderly outpatients.

    PubMed

    Devanand, D P; Adorno, Elizabeth; Cheng, Jocelyn; Burt, Tal; Pelton, G H Gregory H; Roose, S P Steven P; Sackeim, H A Harold A

    2004-03-01

    Age of onset may affect clinical features and prognosis in elderly patients with major depression (MDD), but there is a lack of such data in elderly patients with dysthymic disorder (DD) and systematic comparisons of late onset MDD and DD have not been conducted. In a Late Life Depression Clinic, patients > or = 60 years old who met DSM-III-R or DSM-IV criteria for MDD or DD were studied. The 24-item Hamilton Rating Scale for Depression (HRSD) and SCID-P were completed, family history was obtained, and medical illnesses were assessed. In the total sample (n=370; 211 MDD and 159 DD), compared to early onset patients, late onset (onset > or =60 years) patients had a higher rate of cardiovascular disease (chi(2)=4.12, df=1, P<0.05), lower rate of anxiety disorder (chi(2)=4.19, df=1, P<0.05), and a lower rate of family history of affective disorder (chi(2)=9.37, df=1, P<0.002). Late onset DD patients were more likely to have cardiovascular disease than early onset DD patients (chi(2)=5.63, df=1, P<0.02), but the rate of cardiovascular disease did not differ between late and early onset MDD patients (chi(2)=0.35, df=1, P<0.6). Late onset MDD patients were less likely to have a family history of affective disorder than early onset MDD patients (chi(2)=10.71, df=1, P<0.001). Prevalence of anxiety disorders did not differ between the early and late onset MDD patients (chi(2)=0.07, df=1, P<0.79), but was more common in the early onset DD compared to the late onset DD patients (17.98% versus 4.29%, chi(2)=6.98, df=1, P<0.01). Late onset DD did not differ from late onset MDD in the rates of cardiovascular disease, anxiety disorders, and family history of affective disorder. Excluding patients with double depression (n=32) did not alter the cardiovascular or family history findings, but the difference in anxiety disorders between early and late onset DD patients was no longer significant. Academic clinic sample results may not generalize to community populations. In the

  17. Cost analysis of a growth guidance system compared with traditional and magnetically controlled growing rods for early-onset scoliosis: a US-based integrated health care delivery system perspective.

    PubMed

    Luhmann, Scott J; McAughey, Eoin M; Ackerman, Stacey J; Bumpass, David B; McCarthy, Richard E

    2018-01-01

    Treating early-onset scoliosis (EOS) with traditional growing rods (TGR) is effective but requires periodic surgical lengthening, risking complications. Alternatives include magnetically controlled growing rods (MCGR) that lengthen noninvasively and the growth guidance system (GGS), which obviate the need for active, distractive lengthenings. Previous studies have reported promising clinical effectiveness for GGS; however the direct medical costs of GGS compared to TGR and MCGR have not yet been explored. To estimate the cost of GGS compared with MCGR and TGR for EOS an economic model was developed from the perspective of a US integrated health care delivery system. Using dual-rod constructs, the model estimated the cumulative costs associated with initial implantation, rod lengthenings (TGR, MCGR), revisions due to device failure, surgical-site infections, device exchange, and final spinal fusion over a 6-year episode of care. Model parameters were from peer-reviewed, published literature. Medicare payments were used as a proxy for provider costs. Costs (2016 US$) were discounted 3% annually. Over a 6-year episode of care, GGS was associated with fewer invasive surgeries per patient than TGR (GGS: 3.4; TGR: 14.4) and lower cumulative costs than MCGR and TGR, saving $25,226 vs TGR. Sensitivity analyses showed that results were sensitive to changes in construct costs, rod breakage rates, months between lengthenings, and TGR lengthening setting of care. Within the model, GGS resulted in fewer invasive surgeries and deep surgical site infections than TGR, and lower cumulative costs per patient than both MCGR and TGR, over a 6-year episode of care. The analysis did not account for family disruption, pain, psychological distress, or compromised health-related quality of life associated with invasive TGR lengthenings, nor for potential patient anxiety surrounding the frequent MCGR lengthenings. Further analyses focusing strictly on current generation technologies should

  18. Cost analysis of a growth guidance system compared with traditional and magnetically controlled growing rods for early-onset scoliosis: a US-based integrated health care delivery system perspective

    PubMed Central

    Luhmann, Scott J; McAughey, Eoin M; Ackerman, Stacey J; Bumpass, David B; McCarthy, Richard E

    2018-01-01

    Purpose Treating early-onset scoliosis (EOS) with traditional growing rods (TGR) is effective but requires periodic surgical lengthening, risking complications. Alternatives include magnetically controlled growing rods (MCGR) that lengthen noninvasively and the growth guidance system (GGS), which obviate the need for active, distractive lengthenings. Previous studies have reported promising clinical effectiveness for GGS; however the direct medical costs of GGS compared to TGR and MCGR have not yet been explored. Methods To estimate the cost of GGS compared with MCGR and TGR for EOS an economic model was developed from the perspective of a US integrated health care delivery system. Using dual-rod constructs, the model estimated the cumulative costs associated with initial implantation, rod lengthenings (TGR, MCGR), revisions due to device failure, surgical-site infections, device exchange, and final spinal fusion over a 6-year episode of care. Model parameters were from peer-reviewed, published literature. Medicare payments were used as a proxy for provider costs. Costs (2016 US$) were discounted 3% annually. Results Over a 6-year episode of care, GGS was associated with fewer invasive surgeries per patient than TGR (GGS: 3.4; TGR: 14.4) and lower cumulative costs than MCGR and TGR, saving $25,226 vs TGR. Sensitivity analyses showed that results were sensitive to changes in construct costs, rod breakage rates, months between lengthenings, and TGR lengthening setting of care. Conclusion Within the model, GGS resulted in fewer invasive surgeries and deep surgical site infections than TGR, and lower cumulative costs per patient than both MCGR and TGR, over a 6-year episode of care. The analysis did not account for family disruption, pain, psychological distress, or compromised health-related quality of life associated with invasive TGR lengthenings, nor for potential patient anxiety surrounding the frequent MCGR lengthenings. Further analyses focusing strictly on

  19. Traditional growing rod versus magnetically controlled growing rod for treatment of early onset scoliosis: Cost analysis from implantation till skeletal maturity.

    PubMed

    Wong, Carlos King Ho; Cheung, Jason Pui Yin; Cheung, Prudence Wing Hang; Lam, Cindy Lo Kuen; Cheung, Kenneth Man Chee

    2017-01-01

    To compare the yearly cost involved per patient in the use of magnetically controlled growing rod (MCGR) and traditional growing rods (TGRs) in the treatment of early onset scoliosis (EOS) and to assess the overall cost burden of MCGR with reference to patient and health-care infrastructure. For a hypothetical case of a 5-year-old girl with a diagnosis of EOS, a decision-tree model using TreeAge Software was developed to simulate annual health state transitions and compare the 8-year accumulative direct, indirect, and total cost among the four groups: (1) dual MCGRs with exchange every 2 years, (2) dual MCGRs with exchange every 3 years, (3) TGR with surgical distraction every year, and (4) TGR with surgical distraction every 6 months. Base-case values and ranges of clinical parameters reflecting complication rate after each type of surgical distraction were determined from a review of literature and expert opinion. Government gazette and expert opinion provided cost estimation of growing rods, surgeries, surgical complications, and routine follow-up. Microsimulation of 1000 individuals was conducted to test the variation in total direct costs (in 2016 Hong Kong dollars (HKD)) between individuals, and estimated the standard deviations of total direct costs for each group. Over the projected treatment period, indirect costs incurred by patients and family were higher for the MCGR as compared to the TGR. However, the total costs incurred by MCGR groups (group 1: HKD164k; group 2: HKD138k) were lower than those incurred by TGR groups (group 3: HKD191k; group 4: HKD290k). Although the accumulative costs of three groups (TGR with distraction every year and MCGR replacing every 2 and 3 years) were approaching each other in the first 2 years after initial implantation, at year 3 the accumulative cost of MCGR exchange every 2 years was HKD36k more than the yearly TGR surgery due to the cost of implant exchange. The cost incurred by both the MCGR groups was less than that

  20. Simple methods to reduce patient exposure during scoliosis radiography

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Butler, P.F.; Thomas, A.W.; Thompson, W.E.

    1986-05-01

    Radiation exposure to the breasts of adolescent females can be reduced significantly through the use of one or all of the following methods: fast, rare-earth screen-film combinations; specially designed compensating filters; and breast shielding. The importance of exposure reduction during scoliosis radiography as well as further details on the above described methods are discussed. In addition, the early results of a Center for Devices and Radiological Health study, which recorded exposure and technique data for scoliosis radiography, is presented.

  1. Scoliosis Research Society (SRS) Criteria and Society of Scoliosis Orthopaedic and Rehabilitation Treatment (SOSORT) 2008 Guidelines in Non-Operative Treatment of Idiopathic Scoliosis.

    PubMed

    Korbel, Krzysztof; Kozinoga, Mateusz; Stoliński, Łukasz; Kotwicki, Tomasz

    2014-07-28

    According to the Scoliosis Research Society (SRS), idiopathic scoliosis (IS) is a curvature of more than 10° Cobb angle, affecting 2-3% of pediatric population. Idiopathic scoliosis accounts for 80% of all scoliosis cases. Non-operative principles in the therapy of idiopathic scoliosis, including Scoliosis Research Society (SRS) criteria and guidelines proposed by the experts of the Society on Scoliosis Orthopedic and Rehabilitation Treatment (SOSORTS) were presented. The possibility to carry out quality of life assessments in a conservative procedure was also demonstrated. Based on the natural history of idiopathic scoliosis, SRS criteria, SOSORT 2008 experts' opinion and the knowledge of the possibilities of psychological assessment of conservative IS treatment, rules were proposed regarding nonsurgical IS therapy procedures, with special consideration being paid to the proper treatment start time (age, Risser test, biological maturity, Cobb angle), possibility of curvature progression, the importance of physiotherapy and psychological assessment. The knowledge of SRS criteria and SOSORT guidelines regarding the conservative treatment of IS are essential for proper treatment (the right time to start treatment), and supports establishment of interdisciplinary treatment teams, consisting of a physician, a physiotherapist, an orthopedic technician and a psychologist.

  2. Blood-Based Biomarkers of Early-Onset Breast Cancer

    DTIC Science & Technology

    2015-10-01

    n=51). The women with early-onset breast cancer were disease and treatment free for at least 6 months at time of blood donation . Cases and controls...were age matched to age at blood donation . 2. KEYWORDS: biomarkers, early-onset breast cancer, expression profiling, risk-assessment, breast cancer...matched controls. This prospectively collected cohort consists of blood donated to blood banks ~15 years ago and subsequently linked to the California

  3. Physiotherapeutic scoliosis-specific exercises for adolescents with idiopathic scoliosis.

    PubMed

    Bettany-Saltikov, J; Parent, E; Romano, M; Villagrasa, M; Negrini, S

    2014-02-01

    The use of exercises for the treatment of Adolescents with Idiopathic Scoliosis is controversial. Whilst exercises are routinely used in a number of central and southern European countries, most centres in the rest of the world (mainly in Anglo-Saxon countries), do not advocate its use. One of the reasons for this is that many health care professionals are usually not conversant with the differences between generalised physiotherapy exercises and physiotherapeutic scoliosis-specific exercises (PSSE): while the former are generic exercises usually consisting of low-impact stretching and strengthening activities like yoga, Pilates and the Alexander technique, PSSE consist of a program of curve-specific exercise protocols which are individually adapted to a patients' curve site, magnitude and clinical characteristics. PSSEs are performed with the therapeutic aim of reducing the deformity and preventing its progression. It also aims to stabilise the improvements achieved with the ultimate goal of limiting the need for corrective braces or the necessity of surgery. This paper introduces the different 'Schools' and approaches of PSSE currently practiced (Scientific Exercise Approach to Scoliosis - SEAS, Schroth, Barcelona Scoliosis Physical Therapy School - BSPTS, Dobomed, Side Shift, Functional Individual Therapy of Scoliosis - FITS and Lyon) and discusses their commonalities and differences.

  4. The management of scoliosis in children with cerebral palsy: a review

    PubMed Central

    Gardner, Adrian

    2016-01-01

    Children who suffer with cerebral palsy (CP) have a significant chance of developing scoliosis during their early years and adolescence. The behavior of this scoliosis is closely associated with the severity of the CP disability and unlike idiopathic scoliosis, it continues to progress beyond skeletal maturity. Conservative measures may slow the progression of the curve, however, surgery remains the only definitive management option. Advances in surgical technique over the last 50 years have provided methods to effectively treat the deformity while also reducing complication rates. The increased risk of surgical complications with these complex patients make decisions about treatment challenging, however with careful pre-operative optimization and post-operative care, surgery can offer a significant improvement in quality of life. This review discusses the development of scoliosis in CP patient, evaluates conservative and surgical treatment options and assesses post-operative outcome. PMID:28097247

  5. [Early-onset and late-onset male hypogonadotropic hypogonadism and osteoporosis].

    PubMed

    Okada, Hiroshi; Shin, Takeshi; Kobori, Yoshitomo

    2016-07-01

    Hypogonadism is classified into two major clinical entities, namely early-onset hypogonadism and late-onset hypogonadism. The former is characterized by the malfunction of hypothalamo-pituitary-gonadal(testicular)axis or by the primary hypofunction of testes(e.g. Klinefelter's syndrome). The latter is summarized as LOH syndrome which is attributed to the dropped level of bioavailable testosterone. In these diseases testosterone is the key molecule which may cause various symptoms relating not only to physical health but also to mental or psychologic health. In this review issues concerning bone health in these disease are described.

  6. Early childhood predictors of early onset of smoking: a birth prospective study.

    PubMed

    Hayatbakhsh, Reza; Mamun, Abdullah A; Williams, Gail M; O'Callaghan, Michael J; Najman, Jake M

    2013-10-01

    Early onset of smoking is associated with subsequent abuse of other substances and development of negative health outcomes. This study aimed to examine early life predictors of onset of smoking in an Australian young cohort. Data were from the Mater Hospital and University of Queensland Study of Pregnancy (MUSP), a population-based prospective birth cohort study (1981-2012). The present study is based on a cohort of 3714 young adults who self-reported smoking status and age of onset of smoking at the 21-year follow-up. Of these, data were available for 3039 on early childhood factors collected between the baseline and 14-year follow-up of the study. Of 3714 young adults, 49.6% (49.9% males and 49.3% females) reported having ever smoked cigarettes. For those who had ever smoked, mean and median ages at first smoke were 15.5 and 16.0years, respectively. In multivariate Cox proportional hazard analysis mother's education, change in maternal marital status, maternal cigarette smoking and alcohol consumption, maternal depression and child externalizing when the child was 5years statistically significantly predicted early onset of smoking. The data suggest that individuals exposed to personal and environmental risk factors during the early stage of childhood are at increased risk of initiation to cigarette smoking at an earlier age. Identification of the pathways of association between these early life factors and initiation to cigarette smoking may help reduce risk of tobacco smoking in adolescents and its adverse consequences. Copyright © 2013 Elsevier Ltd. All rights reserved.

  7. Acute pancreatitis following scoliosis surgery: description and clinical course in 14 adolescents.

    PubMed

    El Bouyousfi, Maalik; Leveque, Christine; Miladi, Lotfi; Irtan, Sabine; Hamza, Jamil; Oualha, Mehdi

    2016-10-01

    Acute pancreatitis is a possible complication after scoliosis surgery. Although some risk factors have been documented in the literature, clinical description of pancreatitis diagnosis and ensuing course still remain very poor. The aim of this study was to describe characteristics of acute pancreatitis after scoliosis surgery. A descriptive, retrospective and single-center study of fourteen adolescents with postoperative acute pancreatitis after spine fusion surgery in scoliosis management between April 2003 and August 2012 was performed. Acute pancreatitis occurred within 9.5 days (4-51) after surgery. Abdominal pain was atypical and was expressed in only half of the children. Ileus, nausea and vomiting were the most frequent signs. None of the acute pancreatitis cases was severe. Acute pancreatitis is an early complication of scoliosis surgery. Clinical signs are atypical and non-severe and can induce misleading forms. Presence of delayed digestive problems should alert the clinician to the risk of pancreatitis in the aftermath of scoliosis surgery.

  8. Genetic Evaluation for the Scoliosis Gene(s) in Patients with Neurofibromatosis 1 and Scoliosis

    DTIC Science & Technology

    2013-08-01

    AD_________________ (Leave blank) Award Number: W81HWH-10-1-0469 TITLE: Genetic Evaluation for the Scoliosis Gene(s) in Patients with...Neurofibromatosis 1 and Scoliosis PRINCIPAL INVESTIGATOR: David W. Polly, Jr., MD CONTRACTING ORGANIZATION: UNIVERSITY OF MINNESOTA Minneapolis, MN 55455...the Scoliosis Gene(s) in Patients with Neurofibromatosis 1 and Scoliosis 5b. GRANT NUMBER W81HWH-10- -0469 5c. PROGRAM ELEMENT NUMBER 6. AUTHOR(S

  9. Buckling and bone modeling as factors in the development of idiopathic scoliosis.

    PubMed

    Goto, Manabu; Kawakami, Noriaki; Azegami, Hideyuki; Matsuyama, Yukihiro; Takeuchi, Kenzen; Sasaoka, Ryu

    2003-02-15

    Computational analysis using the finite-element method was used to examine a possible etiology of idiopathic scoliosis. To compare changes in the coronal and the transverse planes of idiopathic thoracic scoliosis with changes produced in a finite-element buckling model, and to investigate the influence of bone modeling on the buckling spine. Although it is now widely accepted that growth is related strongly to the onset and progression of scoliosis, the pathomechanism or etiology of idiopathic scoliosis still is not clear. A previous study showed that a buckling phenomenon caused by anterior spinal overgrowth can produce scoliosis, and that the fourth buckling mode matched the clinical characteristics associated with the thoracic type of idiopathic scoliosis. The fourth buckling mode occurs when the first, second, and third buckling modes are prevented. The spinal finite-element model used in this study consisted of 68,582 elements and 84,603 nodes. The transverse changes seen in the computed tomography images of 41 patients with idiopathic thoracic scoliosis (apex, T8; average Cobb angle, 52.5 degrees) were compared with those produced in the fourth buckling mode. Bone modeling (bone formation and resorption) was simulated as heat deformation caused by changes in temperature. The bone formation and resorption were simulated, respectively, by positive and negative volume changes in proportion to the stress that occurred in the buckling spine. Computed tomography images of scoliosis show that as the scoliosis becomes more severe, the thoracic cage decreases on the convex side of the curve and increases on the concave side. The opposite thoracic cage deformation was obtained in the fourth buckling mode. In patients with scoliosis, the sternum essentially remains in its original position with respect to the vertebrae, but in the linear buckling model, it shifted in the direction of vertebral body rotation. In contrast to clinical data, the incremental deformation

  10. [Scoliosis: the bent spine].

    PubMed

    Radl, R; Maafe, M; Ziegler, S

    2011-05-01

    Scoliosis, a permanent abnormal curvature of the spine to the side, is divided into four forms: idiopathic (infantile, juvenile and adolescent, accounting for 80% of cases), neurogenic, congenital and adult scoliosis. Most patients with adolescent idiopathic scoliosis initially have mainly cosmetic problems. However, neurogenic, congenital and adult scoliosis can lead to severe clinical symptoms. The leading symptom is back pain caused by secondary changes. In recent years the Lenke classification has been proven to be a reliable tool for disease classification. Non-progressive scoliosis is usually treated conservatively. In the case of Cobb angles of greater than 50°, surgical therapy is recommended in patients presenting before adulthood. Technical improvements in implants and the optimisation of surgical methods have set a trend in the direction of surgical therapy.

  11. Genetics Home Reference: early-onset glaucoma

    MedlinePlus

    ... called a syndrome. If glaucoma appears before the age of 5 without other associated abnormalities, it is called primary congenital glaucoma. Other individuals experience early onset of primary open-angle glaucoma, the most ...

  12. The Clinical Effectiveness of School Screening Programme for Idiopathic Scoliosis in Malaysia.

    PubMed

    Deepak, A S; Ong, J Y; Choon, Dsk; Lee, C K; Chiu, C K; Chan, Cyw; Kwan, M K

    2017-03-01

    There is no large population size study on school screening for scoliosis in Malaysia. This study is aimed to determine the prevalence rate and positive predictive value (PPV) of screening programme for adolescent idiopathic scoliosis. A total of 8966 voluntary school students aged 13-15 years old were recruited for scoliosis screening. Screening was done by measuring the angle of trunk rotation (ATR) on forward bending test (FBT) using a scoliometer. ATR of 5 degrees or more was considered positive. Positively screened students had standard radiographs done for measurement of the Cobb angle. Cobb angle of >10° was used to diagnose scoliosis. The percentage of radiological assessment referral, prevalence rate and PPV of scoliosis were then calculated. Percentage of radiological assessment referral (ATR >5°) was 4.2% (182/4381) for male and 5.0% (228/4585) for female. Only 38.0% of those with ATR >5° presented for further radiological assessment. The adjusted prevalence rate was 2.55% for Cobb angle >10°, 0.59% for >20° and 0.12% for >40°. The PPV is 55.8% for Cobb angle >10°, 12.8% for >20° and 2.6% for > 40°. This is the largest study of school scoliosis screening in Malaysia. The prevalence rate of scoliosis was 2.55%. The positive predictive value was 55.8%, which is adequate to suggest that the school scoliosis screening programme did play a role in early detection of scoliosis. However, a cost effectiveness analysis will be needed to firmly determine its efficacy.

  13. Early onset obsessive-compulsive disorder with and without tics.

    PubMed

    de Mathis, Maria Alice; Diniz, Juliana B; Shavitt, Roseli G; Torres, Albina R; Ferrão, Ygor A; Fossaluza, Victor; Pereira, Carlos; Miguel, Eurípedes; do Rosario, Maria Conceicão

    2009-07-01

    Research suggests that obsessive-compulsive disorder (OCD) is not a unitary entity, but rather a highly heterogeneous condition, with complex and variable clinical manifestations. The aims of this study were to compare clinical and demographic characteristics of OCD patients with early and late age of onset of obsessive-compulsive symptoms (OCS); and to compare the same features in early onset OCD with and without tics. The independent impact of age at onset and presence of tics on comorbidity patterns was investigated. Three hundred and thirty consecutive outpatients meeting Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition criteria for OCD were evaluated: 160 patients belonged to the "early onset" group (EOG): before 11 years of age, 75 patients had an "intermediate onset" (IOG), and 95 patients were from the "late onset" group (LOG): after 18 years of age. From the 160 EOG, 60 had comorbidity with tic disorders. The diagnostic instruments used were: the Yale-Brown Obsessive Compulsive Scale and the Dimensional Yale-Brown Obsessive Compulsive Scale (DY-BOCS), Yale Global Tics Severity Scale, and Structured Clinical Interview for DSM-IV Axis I Disorders-patient edition. Statistical tests used were: Mann-Whitney, full Bayesian significance test, and logistic regression. The EOG had a predominance of males, higher frequency of family history of OCS, higher mean scores on the "aggression/violence" and "miscellaneous" dimensions, and higher mean global DY-BOCS scores. Patients with EOG without tic disorders presented higher mean global DY-BOCS scores and higher mean scores in the "contamination/cleaning" dimension. The current results disentangle some of the clinical overlap between early onset OCD with and without tics.

  14. Scoliosis (For Parents)

    MedlinePlus

    ... Exam: Scoliosis Bones, Muscles, and Joints Kyphosis Spinal Fusion Surgery Preparing Your Child for Surgery Idiopathic Scoliosis ... doctor. © 1995- The Nemours Foundation. All rights reserved. Images provided by The Nemours Foundation, iStock, Getty Images, ...

  15. Genetic Evaluation for the Scoliosis Gene(s) in Patients with Neurofibromatosis Type I and Scoliosis

    DTIC Science & Technology

    2011-08-01

    AWARD NUMBER: W81XWH-10-1-0469 TITLE: Genetic Evaluation for the Scoliosis Gene(s) in...Patients with Neurofibromatosis Type I and Scoliosis PRINCIPAL INVESTIGATOR: David W. Polly, Jr., M.D. CONTRACTING ORGANIZATION: University...for the Scoliosis Gene(s) in Patients with Neurofibromatosis Type I and Scoliosis 5b. GRANT NUMBER W81XWH-10-1-0469 5c. PROGRAM ELEMENT NUMBER 6

  16. Patients with late-adult-onset ulcerative colitis have better outcomes than those with early onset disease.

    PubMed

    Ha, Christina Y; Newberry, Rodney D; Stone, Christian D; Ciorba, Matthew A

    2010-08-01

    The influence of age on the presentation, clinical course, and therapeutic response of patients with adult-onset ulcerative colitis (UC) is understudied. Given potential age-related differences in risk factors and immune function, we sought to determine if disease behavior or clinical outcomes differed between patients diagnosed with UC in later versus earlier stages of adulthood. We performed a retrospective cohort study of 295 patients with UC seen at a tertiary care center from 2001 to 2008. Adult subjects newly diagnosed with UC between the ages of 18 and 30 years were defined as early onset, those newly diagnosed at age 50 or older were defined as late onset. The 2 groups were analyzed for differences in medication use and clinical end points, including disease extent, severity at the time of diagnosis, and steroid-free clinical remission at 1 year after disease onset. Disease extent and symptom severity were similar between groups at the time of diagnosis. One year after diagnosis, more patients in the late-onset group achieved steroid-free clinical remission (64% vs 49%; P = .01). Among those who required systemic steroid therapy, more late-onset patients achieved steroid-free remission by 1 year (50% vs 32%; P = .01). Former smoking status was a more common risk factor in the late-onset cohort (P < .001), whereas more early onset patients had a positive family history (P = .008). Patients with early and late-adult-onset UC have similar initial clinical presentations, but differ in disease risk factors. Late-onset patients have better responses to therapy 1 year after diagnosis. Copyright 2010 AGA Institute. Published by Elsevier Inc. All rights reserved.

  17. Early Onset Obesity and Risk of Metabolic Syndrome Among Chilean Adolescents

    PubMed Central

    Pacheco, Lorena Sonia; Blanco, Estela; Burrows, Raquel; Reyes, Marcela; Lozoff, Betsy

    2017-01-01

    Introduction Obesity and metabolic syndrome (MetS) indicators have increased globally among the pediatric population. MetS indicators in the young elevate their risk of cardiovascular disease and metabolic disorders later in life. This study examined early onset obesity as a risk factor for MetS risk in adolescence. Methods A cohort of Chilean participants (N = 673) followed from infancy was assessed at age 5 years and in adolescence (mean age, 16.8 y). Adiposity was measured at both time points; blood pressure and fasting blood samples were assessed in adolescence only. Early onset obesity was defined as a World Health Organization z score of 2 standard deviations (SDs) or more for body mass index (BMI) at age 5 years. We used linear regression to examine the association between early onset obesity and adolescent MetS risk z score, adjusting for covariates. Results Eighteen percent of participants had early onset obesity, and 50% of these remained obese in adolescence. Mean MetS risk z score in adolescence was significantly higher among those with early onset obesity than among those without (1.0; SD, 0.8 vs 0.2; SD, 0.8 [P < .001]). In the multivariable model, early onset obesity independently contributed to a higher MetS risk score in adolescence (β = 0.27, P < .001), controlling for obesity status at adolescence and sex, and explained 39% of the variance in MetS risk. Conclusion Early onset obesity as young as age 5 years relates to higher MetS risk. PMID:29023232

  18. Quantifying torso deformity in scoliosis

    NASA Astrophysics Data System (ADS)

    Ajemba, Peter O.; Kumar, Anish; Durdle, Nelson G.; Raso, V. James

    2006-03-01

    Scoliosis affects the alignment of the spine and the shape of the torso. Most scoliosis patients and their families are more concerned about the effect of scoliosis on the torso than its effect on the spine. There is a need to develop robust techniques for quantifying torso deformity based on full torso scans. In this paper, deformation indices obtained from orthogonal maps of full torso scans are used to quantify torso deformity in scoliosis. 'Orthogonal maps' are obtained by applying orthogonal transforms to 3D surface maps. (An 'orthogonal transform' maps a cylindrical coordinate system to a Cartesian coordinate system.) The technique was tested on 361 deformed computer models of the human torso and on 22 scans of volunteers (8 normal and 14 scoliosis). Deformation indices from the orthogonal maps correctly classified up to 95% of the volunteers with a specificity of 1.00 and a sensitivity of 0.91. In addition to classifying scoliosis, the system gives a visual representation of the entire torso in one view and is viable for use in a clinical environment for managing scoliosis.

  19. Early Onset Recurrent Subtype of Adolescent Depression: Clinical and Psychosocial Correlates

    ERIC Educational Resources Information Center

    Hammen, Constance; Brennan, Patricia A.; Keenan-Miller, Danielle; Herr, Nathaniel R.

    2008-01-01

    Background: Evaluated trajectories of adolescent depression and their correlates in a longitudinal study of a community sample: early onset (by age 15) with major depression (MDE) recurrence between 15 and 20; early onset with no recurrence; later onset of major depression after age 15 with and without recurrence by 20; and never-depressed.…

  20. Behavior of scoliosis during growth in children with osteogenesis imperfecta.

    PubMed

    Anissipour, Alireza K; Hammerberg, Kim W; Caudill, Angela; Kostiuk, Theodore; Tarima, Sergey; Zhao, Heather Shi; Krzak, Joseph J; Smith, Peter A

    2014-02-05

    Spinal deformities are common in patients with osteogenesis imperfecta, a heritable disorder that causes bone fragility. The purpose of this study was to describe the behavior of spinal curvature during growth in patients with osteogenesis imperfecta and establish its relationship to disease severity and medical treatment with bisphosphonates. The medical records and radiographs of 316 patients with osteogenesis imperfecta were retrospectively reviewed. The severity of osteogenesis imperfecta was classified with the modified Sillence classification. Serial curve measurements were recorded throughout the follow-up period for each patient with scoliosis. Regression analysis was used to determine the effect of disease severity (Sillence type), patient age, and bisphosphonate treatment on the progression of scoliosis as measured with the Cobb method. Of the 316 patients with osteogenesis imperfecta, 157 had associated scoliosis, a prevalence of 50%. Scoliosis prevalence (68%) and mean progression rate (6° per year) were the highest in the group of patients with the most severe osteogenesis imperfecta (modified Sillence type III). A group with intermediate osteogenesis imperfecta severity, modified Sillence type IV, demonstrated intermediate scoliosis values (54%, 4° per year). The patient group with the mildest form of osteogenesis imperfecta, modified Sillence type I, had the lowest scoliosis prevalence (39%) and rate of progression (1° per year). Early treatment-before the patient reached the age of six years-of type-III osteogenesis imperfecta with bisphosphonate therapy decreased the curve progression rate by 3.8° per year, which was a significant decrease. Bisphosphonate treatment had no demonstrated beneficial effect on curve behavior in patients with other types of osteogenesis imperfecta or in patients of older age. The prevalence of scoliosis in association with osteogenesis imperfecta is high. Progression rates of scoliosis in children with osteogenesis

  1. Early onset marijuana use is associated with learning inefficiencies.

    PubMed

    Schuster, Randi Melissa; Hoeppner, Susanne S; Evins, A Eden; Gilman, Jodi M

    2016-05-01

    Verbal memory difficulties are the most widely reported and persistent cognitive deficit associated with early onset marijuana use. Yet, it is not known what memory stages are most impaired in those with early marijuana use. Forty-eight young adults, aged 18-25, who used marijuana at least once per week and 48 matched nonusing controls (CON) completed the California Verbal Learning Test, Second Edition (CVLT-II). Marijuana users were stratified by age of initial use: early onset users (EMJ), who started using marijuana at or before age 16 (n = 27), and late onset marijuana user group (LMJ), who started using marijuana after age 16 (n = 21). Outcome variables included trial immediate recall, total learning, clustering strategies (semantic clustering, serial clustering, ratio of semantic to serial clustering, and total number of strategies used), delayed recall, and percent retention. Learning improved with repetition, with no group effect on the learning slope. EMJ learned fewer words overall than LMJ or CON. There was no difference between LMJ and CON in total number of words learned. Reduced overall learning mediated the effect on reduced delayed recall among EMJ, but not CON or LMJ. Learning improved with greater use of semantic versus serial encoding, but this did not vary between groups. EMJ was not related to delayed recall after adjusting for encoding. Young adults reporting early onset marijuana use had learning weaknesses, which accounted for the association between early onset marijuana use and delayed recall. No amnestic effect of marijuana use was observed. (PsycINFO Database Record (c) 2016 APA, all rights reserved).

  2. Early-onset Alzheimer's Disease Phenotypes: Neuropsychology and Neural Networks

    ClinicalTrials.gov

    2017-05-11

    Alzheimer Disease, Early Onset; Alzheimer Disease; Alzheimer Disease, Late Onset; Dementia, Alzheimer Type; Logopenic Progressive Aphasia; Primary Progressive Aphasia; Visuospatial/Perceptual Abilities; Posterior Cortical Atrophy; Executive Dysfunction; Corticobasal Degeneration; Ideomotor Apraxia

  3. Early intervention for late-onset ornithine transcarbamylase deficiency.

    PubMed

    Fujisawa, Daisuke; Mitsubuchi, Hiroshi; Matsumoto, Shirou; Iwai, Masanori; Nakamura, Kimitoshi; Hoshide, Ryuji; Harada, Nawomi; Yoshino, Makoto; Endo, Fumio

    2015-01-01

    We report the case of a family with late-onset ornithine transcarbamylase deficiency (OTCD). Several family members had died from OTCD, and the c.221G>A, p.Lys221Lys mutation was detected at the 3' end of exon 6 of OTC in the X-chromosome of some members. We provided genetic counseling on pregnancy, delivery, and neonate management to a 4th-generation female carrier and decided on metabolic management of her child from birth. Two male patients were diagnosed with late-onset OTCD on the basis of blood amino acid and genetic analysis, and they received arginine supplementation from the asymptomatic, early neonatal period. These children grew and developed normally, without decompensation. Patients with late-onset OTCD can and should be diagnosed and treated in the early neonatal period, especially those from families already diagnosed with late-onset OTCD, and family members must be provided with genetic counseling. © 2015 Japan Pediatric Society.

  4. Differential Neurodevelopmental Trajectories in Patients With Early-Onset Bipolar and Schizophrenia Disorders

    PubMed Central

    Arango, Celso

    2014-01-01

    Schizophrenia and bipolar disorders share not only clinical features but also some risk factors such as genetic markers and childhood adversity, while other risk factors such as urbanicity and obstetric complications seem to be specific to schizophrenia. An intriguing question is whether the well-established abnormal neurodevelopment present in many children and adolescents who eventually develop schizophrenia is also present in bipolar patients. The literature on adult bipolar patients is controversial. We report data on a subgroup of patients with pediatric-onset psychotic bipolar disorder who seem to share some developmental trajectories with patients with early-onset schizophrenia. These early-onset psychotic bipolar patients have low intelligence quotient, more neurological signs, reduced frontal gray matter at the time of their first psychotic episode, and greater brain changes than healthy controls in a pattern similar to early-onset schizophrenia cases. However, patients with early-onset schizophrenia seem to have more social impairment, developmental abnormalities (eg, language problems), and lower academic achievement in childhood than early-onset bipolar patients. We suggest that some of these abnormal developmental trajectories are more related to the phenotypic features (eg, early-onset psychotic symptoms) of these 2 syndromes than to categorically defined Diagnostic and Statistical Manual of Mental Disorders disorders. PMID:24371326

  5. Surgical and conservative treatment of patients with congenital scoliosis: α search for long-term results

    PubMed Central

    2011-01-01

    Background In view of the limited data available on the conservative treatment of patients with congenital scoliosis (CS), early surgery is suggested in mild cases with formation failures. Patients with segmentation failures will not benefit from conservative treatment. The purpose of this review is to identify the mid- or long-term results of spinal fusion surgery in patients with congenital scoliosis. Methods Retrospective and prospective studies were included, reporting on the outcome of surgery in patients with congenital scoliosis. Studies concerning a small numbers of cases treated conservatively were included too. We analyzed mid-term (5 to 7 years) and long-term results (7 years or more), both as regards the maintenance of the correction of scoliosis and the safety of instrumentation, the early and late complications of surgery and their effect on quality of life. Results A small number of studies of surgically treated patients were found, contained follow-up periods of 4-6 years that in the most cases, skeletal maturity was not yet reached, and few with follow-up of 36-44 years. The results of bracing in children with congenital scoliosis, mainly in cases with failure of formation, were also studied. Discussion Spinal surgery in patients with congenital scoliosis is regarded in short as a safe procedure and should be performed. On the other hand, early and late complications are also described, concerning not only intraoperative and immediate postoperative problems, but also the safety and efficacy of the spinal instrumentation and the possibility of developing neurological disorders and the long-term effect these may have on both lung function and the quality of life of children. Conclusions Few cases indicate the long-term results of surgical techniques, in the natural progression of scoliosis. Similarly, few cases have been reported on the influence of conservative treatment. In conclusion, patients with segmentation failures should be treated

  6. Associations between treatment, scoliosis, pulmonary function, and physical performance in long-term survivors of sarcoma.

    PubMed

    Interiano, Rodrigo B; Kaste, Sue C; Li, Chenghong; Srivastava, Deo Kumar; Rao, Bhaskar N; Warner, William C; Green, Daniel M; Krasin, Matthew J; Robison, Leslie L; Davidoff, Andrew M; Hudson, Melissa M; Fernandez-Pineda, Israel; Ness, Kirsten K

    2017-10-01

    Longer survival for children with sarcoma has led to the recognition of chronic health conditions related to prior therapy. We sought to study the association of sarcoma therapy with the development of scoliosis. We reviewed patient demographics, treatment exposures, and functional outcomes for patients surviving >10 years after treatment for sarcoma between 1964 and 2002 at our institution. The diagnosis of scoliosis was determined by imaging. Functional performance and standardized questionnaires were completed in a long-term follow-up clinic. We identified 367 patients, with median age at follow-up of 33.1 years. Scoliosis was identified in 100 (27.2%) patients. Chest radiation (relative risk (RR), 1.88 (95% confidence interval (CI), 1.21-2.92), p < 0.005) and rib resection (RR, 2.64 (CI, 1.79-3.89), p < 0.0001) were associated with an increased incidence of scoliosis; thoracotomy without rib resection was not. Of 21 patients who underwent rib resection, 16 (80.8%) had the apex of scoliosis towards the surgical side. Scoliosis was associated with worse pulmonary function (RR, 1.74 (CI, 1.14-2.66), p < 0.01) and self-reported health outcomes, including functional impairment (RR, 1.60 (CI, 1.07-2.38), p < 0.05) and cancer-related pain (RR, 1.55 (CI, 1.11-2.16), p < 0.01). Interestingly, pulmonary function was not associated with performance on the 6-min walk test in this young population. Children with sarcoma are at risk of developing scoliosis when treatment regimens include chest radiation or rib resection. Identification of these risk factors may allow for early intervention designed to prevent adverse long-term outcomes. Cancer survivors at risk of developing scoliosis may benefit from monitoring of pulmonary status and early physical therapy.

  7. Nineteenth century exercise clinics for the treatment of scoliosis.

    PubMed

    Elsaesser, S; Butler, A R

    2014-01-01

    Scoliosis is the abnormal lateral curvature and rotation of the spine. In the past this deformity has been linked with moral depravity, as in the case of Richard III. Treatment for scoliosis began with Hippocrates's use of boards and axial distortion. Today, bracing and surgery are used either to correct the deformity or to prevent further progression. In the past, however, exercise regimens have been used in the belief that strengthening back muscles would reduce curvature progression. This approach was pioneered by Per Henrik Ling in the early nineteenth century and was continued by his followers Mathius Roth and Franz Berwald and, most notably, by Gustav Zander. Even today a few clinics, particularly in Eastern Europe, still use exercise in the treatment of scoliosis. Whether it is effective remains debatable, but even if progression is not prevented the patient's general health will benefit from an exercise regimen.

  8. Genetic Evaluation for the Scoliosis Gene(s) in Patients with Neurofibromatosis 1 and Scoliosis

    DTIC Science & Technology

    2012-08-01

    AD_________________ Award Number: W81XWH-10-1-0469 TITLE: Genetic Evaluation for the Scoliosis ...Gene(s) in Patients with Neurofibromatosis 1 and Scoliosis PRINCIPAL INVESTIGATOR: David W. Polly, Jr., M.D...2011 – 31 July 2012 4. TITLE AND SUBTITLE 5a. CONTRACT NUMBER Genetic Evaluation for the Scoliosis Gene(s) in Patients with Neurofibromatosis 1

  9. Differentiating early-onset persistent versus childhood-limited conduct problem youth.

    PubMed

    Barker, Edward D; Maughan, Barbara

    2009-08-01

    Among young children who demonstrate high levels of conduct problems, less than 50% will continue to exhibit these problems into adolescence. Such developmental heterogeneity presents a serious challenge for intervention and diagnostic screening in early childhood. The purpose of the present study was to inform diagnostic screening and preventive intervention efforts by identifying youths whose conduct problems persist. The authors examined 1) the extent to which early-onset persistent versus childhood-limited trajectories can be identified from repeated assessments of childhood and early-adolescent conduct problems and 2) how prenatal and early postnatal risks differentiate these two groups. To identify heterogeneity in early-onset conduct problems, the authors used data from a large longitudinal population-based cohort of children followed from the prenatal period to age 13. Predictive risk factors examined were prenatal and postnatal measures of maternal distress (anxiety, depression), emotional and practical support, and family and child characteristics (from birth to 4 years of age). Findings revealed a distinction between early-onset persistent versus childhood-limited conduct problems in youths. Robust predictors of the early-onset persistent trajectory were maternal anxiety during pregnancy (32 weeks gestation), partner cruelty to the mother (from age 0 to 4 years), harsh parenting, and higher levels of child undercontrolled temperament. Sex differences in these risks were not identified. Interventions aiming to reduce childhood conduct problems should address prenatal risks in mothers and early postnatal risks in both mothers and their young children.

  10. Treatment of Early Onset Schizophrenia: Recent Trends, Challenges and Future Considerations

    PubMed Central

    Vyas, Nora S.; Gogtay, Nitin

    2012-01-01

    Early onset schizophrenia (onset before adulthood) is a rare, severe, and chronic form of schizophrenia. The clinical presentation of schizophrenia at this unusually early age of onset has been associated with premorbid developmental abnormalities, poor response to neuroleptic treatment, greater admission rates, and poor prognosis. This is a brief, condensed review of current treatment strategies for the early onset population highlighting the need for novel treatment strategies for these generally treatment-refractory cases. Based on the current literature, second-generation antipsychotics remain the mainstay of treatment, although current medications provide suboptimal response at best. Based on the adult literature, combining antipsychotic treatment with psychotherapeutic intervention may be a more comprehensive treatment strategy. Indeed, early detection, identification of relevant biomarkers, coupled with advancing knowledge of the neurochemical and neuroanatomic pathways may help design informed and novel treatment strategies. PMID:22485097

  11. Scoliosis detection, patient characteristics, referral patterns and treatment in the absence of a screening program in Norway

    PubMed Central

    2012-01-01

    Background Early diagnosis of idiopathic scoliosis allows for observation and timely initiation of brace treatment in order to halt progression. School scoliosis screening programs were abolished in Norway in 1994 for lack of evidence that the programs improved outcome and for the costs involved. The consequences of this decision are discussed. Objectives To describe the detection, patient characteristics, referral patterns and treatment of idiopathic scoliosis at a scoliosis clinic during the period 2003–2011, when there was no screening and to compare treatment modalities to the period 1976–1988 when screening was performed. Methods Patient demographics, age at detection, family history, clinical and radiological charts of consecutive patients referred for scoliosis evaluation during the period 2003–2011, were prospectively registered. Patients were recruited from a catchment area of about 500000 teenagers. Maturity was estimated according to Risser sign and menarcheal status. Severity of pain was recorded by a verbal 5-point scale from no pain to pain at all times. Physical and neurological examinations were conducted. The detector and patient characteristics were recorded. Referral patterns of orthopedic surgeons at local hospitals and other health care providers were recorded. Patient data was obtained by spine surgeons. Treatment modalities in the current period were compared to the period 1976–1988. Results We registered 752 patients with late onset juvenile and adolescent idiopathic scoliosis from 2003–2011. There were 644 (86%) girls and 108 (14%) boys. Mean age at detection was 14.6 (7–19) years. Sixty percent had Risser sign ≥ 3, whilst 74% were post menarche with a mean age at menarche of 13.2 years. Thirty-one percent had a family history of scoliosis. The mean major curve at first consultation at our clinic was 38° (10°-95°). About 40% had a major curve >40°. Seventy-one percent were detected by patients, close relatives, and friends

  12. [Mutations of amyloid precursor protein in early-onset familial Alzheimer's disease].

    PubMed

    Naruse, S; Tsuji, S; Miyatake, T

    1992-09-01

    Genetic linkage studies of familial Alzheimer's disease (FAD) have suggested that some form of early-onset FAD is linked to proximal long arm of chromosome 21. It has been also suggested that some form of late-onset FAD is linked to long arm of chromosome 19. Goate et al have identified a mis-sense mutation (Val to Ile) in exon 17 of the amyloid precursor protein (APP) gene in 2 of 16 early-onset FAD families, and have shown that the FAD locus in an FAD family is tightly linked to the mis-sense mutation. To determine if the mis-sense mutation is observed in different ethnic origine, we have studied some early-onset FAD families. Two early-onset FAD families showed the existence of the mutation. As the mutation has been identified in different ethnic origine and the mutation has not been observed in normal individuals, it strengthen hypothesis that the mutation is pathogenic. Recently, Val to Phe and Val to Gly mutations have been also identified at the same codon (Codon 717) of the APP gene.

  13. Genetic Determinism of Primary Early-Onset Osteoarthritis.

    PubMed

    Aury-Landas, Juliette; Marcelli, Christian; Leclercq, Sylvain; Boumédiene, Karim; Baugé, Catherine

    2016-01-01

    Osteoarthritis (OA) is the most common joint disease worldwide. A minority of cases correspond to familial presentation characterized by early-onset forms which are genetically heterogeneous. This review brings a new point of view on the molecular basis of OA by focusing on gene mutations causing early-onset OA (EO-OA). Recently, thanks to whole-exome sequencing, a gain-of-function mutation in the TNFRSF11B gene was identified in two distant family members with EO-OA, opening new therapeutic perspectives for OA. Indeed, unraveling the molecular basis of rare Mendelian OA forms will improve our understanding of molecular processes involved in OA pathogenesis and will contribute to better patient diagnosis, management, and therapy. Copyright © 2015 Elsevier Ltd. All rights reserved.

  14. Co-Occurring Problems of Early Onset Persistent, Childhood Limited, and Adolescent Onset Conduct Problem Youth

    ERIC Educational Resources Information Center

    Barker, Edward D.; Oliver, Bonamy R.; Maughan, Barbara

    2010-01-01

    Background: It is increasingly recognized that youth who follow early onset persistent (EOP), childhood limited (CL) and adolescent onset (AO) trajectories of conduct problems show somewhat varying patterns of risk (in childhood) and adjustment problems (in adolescence and adulthood). Little, however, is known about how other adjustment problems…

  15. Effect of patient position on the lordosis and scoliosis of patients with degenerative lumbar scoliosis

    PubMed Central

    Fei, Han; Li, Wei-shi; Sun, Zhuo-ran; Jiang, Shuai; Chen, Zhong-qiang

    2017-01-01

    Abstract This study aimed to analyze the effect of patient positions on the lordosis and scoliosis of patients with degenerative lumbar scoliosis (DLS). Seventy-seven patients with DLS were retrospectively analyzed. We measured lordosis and Cobb's angle on preoperative upright x-rays and magnetic resonance imagings in supine position. The lordosis and scoliosis of surgical segments in intraoperative prone position were measured on intraoperative radiographs of 20 patients to compare with that in standing position. Paired t tests were performed to investigate the parameters of the sample. From standing to supine position the whole lordosis increased (29.2 ± 15.7 degree vs. 34.9 ± 11.2 degree), and the whole scoliosis decreased (24.3 ± 11.8 degree vs. 19.0 ± 10.5 degree); 53 of 77 (68.8%) cases had increased lordosis, and 67 of 77 (87%) cases had decreased scoliosis. The lordosis of surgical segments in standing position had no difference with that in intraoprerative prone position. But in changing from supine/standing position to intraoprerative prone position, the scoliosis of surgical segments decreased (14.7 ± 9.4 degree vs. 11.4 ± 7.0 degree; 19.0 ± 11.8 degree vs. 11.4 ± 7.0 degree, respectively), and 18 of 20 (90%) cases had decreased scoliosis in intraoperative prone position than that in standing position. Compared with standing position in DLS patients, supine position increased lordosis and reduced scoliosis, and intraoperative prone position reduced scoliosis significantly. When evaluating the severity of DLS and making preoperative surgical plans, lumbar lordosis in supine position should also be evaluated in addition to upright x-ray, and the effects of different positions should be taken into consideration to reduce deviation. PMID:28796046

  16. Effect of patient position on the lordosis and scoliosis of patients with degenerative lumbar scoliosis.

    PubMed

    Fei, Han; Li, Wei-Shi; Sun, Zhuo-Ran; Jiang, Shuai; Chen, Zhong-Qiang

    2017-08-01

    This study aimed to analyze the effect of patient positions on the lordosis and scoliosis of patients with degenerative lumbar scoliosis (DLS).Seventy-seven patients with DLS were retrospectively analyzed. We measured lordosis and Cobb's angle on preoperative upright x-rays and magnetic resonance imagings in supine position. The lordosis and scoliosis of surgical segments in intraoperative prone position were measured on intraoperative radiographs of 20 patients to compare with that in standing position. Paired t tests were performed to investigate the parameters of the sample.From standing to supine position the whole lordosis increased (29.2 ± 15.7 degree vs. 34.9 ± 11.2 degree), and the whole scoliosis decreased (24.3 ± 11.8 degree vs. 19.0 ± 10.5 degree); 53 of 77 (68.8%) cases had increased lordosis, and 67 of 77 (87%) cases had decreased scoliosis. The lordosis of surgical segments in standing position had no difference with that in intraoprerative prone position. But in changing from supine/standing position to intraoprerative prone position, the scoliosis of surgical segments decreased (14.7 ± 9.4 degree vs. 11.4 ± 7.0 degree; 19.0 ± 11.8 degree vs. 11.4 ± 7.0 degree, respectively), and 18 of 20 (90%) cases had decreased scoliosis in intraoperative prone position than that in standing position.Compared with standing position in DLS patients, supine position increased lordosis and reduced scoliosis, and intraoperative prone position reduced scoliosis significantly. When evaluating the severity of DLS and making preoperative surgical plans, lumbar lordosis in supine position should also be evaluated in addition to upright x-ray, and the effects of different positions should be taken into consideration to reduce deviation.

  17. Decision making and executive function in male adolescents with early-onset or adolescence-onset conduct disorder and control subjects.

    PubMed

    Fairchild, Graeme; van Goozen, Stephanie H M; Stollery, Sarah J; Aitken, Michael R F; Savage, Justin; Moore, Simon C; Goodyer, Ian M

    2009-07-15

    Although conduct disorder (CD) is associated with an increased susceptibility to substance use disorders, little is known about decision-making processes or reward mechanisms in CD. This study investigated decision making under varying motivational conditions in CD. Performances on the Risky Choice Task (RCT) and the Wisconsin Card Sorting Test (WCST) were assessed in 156 adolescents (84 control subjects, 34 with adolescence-onset CD, and 38 with early-onset CD). The RCT was performed twice, once under normal motivational conditions and once under conditions of increased motivation and psychosocial stress. Increased motivation and stress led to more cautious decision making and changes in framing effects on the RCT in all groups, although such effects were least pronounced in the early-onset CD group. Participants from both CD subgroups selected the risky choice more frequently than control subjects. Under normal motivational conditions, early-onset CD participants chose the risky choice more frequently in trials occurring after small gains, relative to control subjects and adolescence-onset CD participants. Following adjustment for IQ differences, the groups did not differ significantly in terms of WCST performance. Differences in decision making between control subjects and individuals with CD suggest that the balance between sensitivity to reward and punishment is shifted in this disorder, particularly the early-onset form. Our data on modulation of decision making according to previous outcomes suggest altered reward mechanisms in early-onset CD. The WCST data suggest that impairments in global executive function do not underlie altered decision making in CD.

  18. Diagnosis and prognosis of early-onset intrahepatic cholestasis of pregnancy: a prospective study.

    PubMed

    Lin, Jing; Gu, Wei; Hou, Yanyan

    2017-11-07

    To explore the gestational age of early-onset intrahepatic cholestasis (ICP) of pregnancy, and to analyze the relationship between the clinical biochemical indices and pregnancy outcomes in order to arrive at a reasonable diagnosis and administer appropriate treatment. This is a retrospective clinical study. We selected 47,260 pregnant women who received prenatal care and underwent childbirth at the International Peace Maternity and Child Health Hospital affiliated to Shanghai Jiao Tong University from January 2014 to December 2016 for participating in this study. Of these 47,260 women, 407 developed ICP. To calculate the gestational week cutoff between early- and late-onset ICP by the receiver-operating characteristic (ROC) curve and Youden's index. Two independent samples t tests and chi square test were used to compare the differences in biochemical indices and pregnancy outcomes between the two groups. We found that 34 weeks is the most appropriate cutoff gestational age for the diagnosis of early-onset ICP. Early-onset ICP is characterized by early onset, long disease duration and a higher incidence of preterm labor, fetal distress, and fetal low birth weight compared to late-onset ICP. Thirty-four weeks is the most appropriate cutoff gestational age for the diagnosis of early-onset ICP. And to reduce the adverse pregnancy outcomes in cases of early-onset ICP, we suggest prolonging gestation up to 37 weeks as far as possible before selecting iatrogenic birth.

  19. Specific Intellectual Deficits in Children with Early Onset Diabetes Mellitus.

    ERIC Educational Resources Information Center

    Rovet, Joanne F.; And Others

    1988-01-01

    Compares 27 children with early onset diabetes (EOD) with 24 children with late onset diabetes (LOD) and 30 sibling controls in performance on tests of intellectual functioning and school achievement. Results revealed that duration of illness, age of onset, and hypoglycemic convulsions significantly predicted spatial ability. (Author/RWB)

  20. Neuropathological aspects of conservative treatment of scoliosis. A theoretical view point.

    PubMed

    Czupryna, Krzysztof; Nowotny-Czupryna, Olga; Nowotny, Janusz

    2012-01-01

    An upright body posture cannot be maintained passively for reasons including a high location of the centre of gravity (COG) and a small support area. Proper alignment of body parts is maintained automatically, tending towards a pattern encoded in the CNS. A particularly important role in posture regulation is played by the short muscles of the back, which respond to being stretched with a contraction. During the early phase of scoliosis, the CNS automatically corrects abnormalities, but over time habituation occurs and the CNS treats them as something normal. Any attempt to restore proper body alignment is treated as an error and CNS automatically restores this abnormal pattern. With a prolonged deviation in body part alignment, CNS treats it as a defect and runs compensatory mechanisms to restore the balance of the body as a whole. Balance is ensured by postural compensation, but this does not restore proper body part alignment. In the treatment of scoliosis, it is important both to slow down progression and to prevent the development of abnormal postural habits, which are part of a vicious circle even without progression. Secondary prevention is therefore needed in all patients. Passive observation limits the possibilities for prevention and contradicts the principle of early implementation of rehabilitation. Depending on the size of the angle of curvature, recommended treatments of scoliosis comprise observation, corset bracing, and surgery. Physiotherapy is often treated as an unconventional and ineffective treatment. Often, the biggest problem is transferring the resulting correction to automatic maintenance of a correct posture in the vertical position. The aim of this paper was to discuss the conservative treatment of scoliosis with regard to difficulties maintaining the correct alignment of the body parts in the vertical position that accompany scoliosis.

  1. Risk Factors for Early-Onset Peritonitis in Southern Chinese Peritoneal Dialysis Patients.

    PubMed

    Wu, Haishan; Huang, Rong; Yi, Chunyan; Wu, Juan; Guo, Qunying; Zhou, Qian; Yu, Xueqing; Yang, Xiao

    ♦ BACKGROUND: Early peritonitis was confirmed to be associated with a higher risk of early technique failure. However, literature concerning peritonitis within the first 3 months of peritoneal dialysis (PD) initiation is scarce. The present study was to investigate risk factors associated with early-onset peritonitis in PD patients. ♦ METHODS: In this retrospective observational cohort study, all incident PD patients from January 1, 2006, to December 31, 2013, were recruited and followed up until December 31, 2014. According to time-to-first episode of peritonitis, patients were divided into early-onset (≤ 3 months) peritonitis and late-onset (> 3 months) peritonitis. Baseline demographic, clinical, and laboratory data, as well as episodes of peritonitis, were collected. Risk factors associated with early-onset peritonitis were evaluated using logistic regression model. ♦ RESULTS: Of 1,690 patients on PD, 503 (29.8%) developed at least 1 episode of peritonitis and 118 (7.0%) patients presented the first episodes of peritonitis within the first 3 months. A multivariate logistic analysis showed that higher body mass index (BMI) (odds ratio [OR] 1.08, 95% confidence interval [CI] 1.01 - 1.15, p = 0.034), hypoalbuminemia (OR 1.75, 95% CI 1.11 - 2.78, p = 0.017), and catheter exit-site infection (OR 4.14, 95% CI 2.45 - 7.00, p < 0.001) were risk factors independently associated with early-onset peritonitis. Compared to those with late-onset, patients with early-onset peritonitis had a higher overall peritonitis rate (0.76 vs 0.38 per patient-year, p < 0.001) and worse technique survival (p < 0.001), while patient survival did not differ significantly between the 2 groups during the long-term follow-up (p > 0.05). ♦ CONCLUSIONS: Higher BMI, hypoalbuminemia, and catheter exit-site infection were the risk factors associated with early-onset peritonitis in PD patients. Copyright © 2016 International Society for Peritoneal Dialysis.

  2. Posture Alignment of Adolescent Idiopathic Scoliosis: Photogrammetry in Scoliosis School Screening.

    PubMed

    Penha, Patrícia Jundi; Penha, Nárima Lívia Jundi; De Carvalho, Bárbarah Kelly Gonçalves; Andrade, Rodrigo Mantelatto; Schmitt, Ana Carolina Basso; João, Sílvia Maria Amado

    The objective of this study was to describe the posture patterns of adolescents diagnosed with adolescent idiopathic scoliosis (AIS) in a scoliosis school screening (SSS). Two-dimensional photogrammetry was used to assess the posture of 37 adolescents diagnosed with scoliosis (scoliosis group, SG) (Cobb angle ≥10°) and 76 adolescents with a false positive diagnosis (false positive group, FPG) (Cobb angle <10°, angle of trunk rotation ≥7°). In total, 2562 10- to 14-year-old adolescents were enrolled in the SSS, which was performed in public schools in the cities of Amparo, Pedreira, and Mogi Mirim in the state of São Paulo, Brazil. Their posture was analyzed using Postural Analysis Software. Continuous variables were tested using Student t test, and categorical variables were tested using a χ2 test. The SG, FPG, simple curve group, and double curve group were all compared. Bivariate analysis was used to identify associations between postural deviations and scoliosis. The adopted significance level was α = .05. The SG (2.7 ± 1.9°) had greater shoulder obliquity than the FPG (1.9 ± 1.4°) (P = .010), and this deviation was associated with scoliosis (odds ratio [95% CI] P = 1.4 [1.1-1.8] 0.011). The SG had asymmetry between the right- and left-side lower limb frontal angle, shoulder sagittal alignment, and knee angle. The double curve group (3 ± 1.7°) presented a greater value of the vertical alignment of the torso than the simple curve group did (1.9 ± 1°; P = .032). Adolescents diagnosed with AIS in an SSS had greater shoulder obliquity and asymmetry between the right and left sides. Shoulder obliquity was the only postural deviation associated with AIS. Copyright © 2017. Published by Elsevier Inc.

  3. Radiation enteritis and radiation scoliosis

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Shah, M.; Eng, K.; Engler, G.L.

    1980-09-01

    Any patient with radiation scoliosis should be suspected of having a visceral lesion as well. Chronic radiation enteritis may be manifested by intestinal obstruction, fistulas, perforation, and hemorrhage. Intestinal obstruction is the most common complication, and must be differentiated from postoperative cast or from spinal-traction syndrome. Obstruction that does not respond promptly to conservative measures must be treated surgically. Irradiated bowel is ischemic, and necrosis with spontaneous perforation can only be avoided with early diagnosis and surgical intervention.

  4. Screening for Adolescent Idiopathic Scoliosis: US Preventive Services Task Force Recommendation Statement.

    PubMed

    Grossman, David C; Curry, Susan J; Owens, Douglas K; Barry, Michael J; Davidson, Karina W; Doubeni, Chyke A; Epling, John W; Kemper, Alex R; Krist, Alex H; Kurth, Ann E; Landefeld, C Seth; Mangione, Carol M; Phipps, Maureen G; Silverstein, Michael; Simon, Melissa A; Tseng, Chien-Wen

    2018-01-09

    Adolescent idiopathic scoliosis, a lateral curvature of the spine of unknown cause with a Cobb angle of at least 10°, occurs in children and adolescents aged 10 to 18 years. Idiopathic scoliosis is the most common form and usually worsens during adolescence before skeletal maturity. Severe spinal curvature may be associated with adverse long-term health outcomes (eg, pulmonary disorders, disability, back pain, psychological effects, cosmetic issues, and reduced quality of life). Early identification and effective treatment of mild scoliosis could slow or stop curvature progression before skeletal maturity, thereby improving long-term outcomes in adulthood. To update the 2004 US Preventive Services Task Force (USPSTF) recommendation on screening for idiopathic scoliosis in asymptomatic adolescents. The USPSTF reviewed the evidence on the benefits and harms of screening for and treatment of adolescent idiopathic scoliosis. The USPSTF found no direct evidence on screening for adolescent idiopathic scoliosis and health outcomes and no evidence on the harms of screening. The USPSTF found inadequate evidence on treatment with exercise and surgery. It found adequate evidence that treatment with bracing may slow curvature progression in adolescents with mild or moderate curvature severity (Cobb angle <40° to 50°); however, evidence on the association between reduction in spinal curvature in adolescence and long-term health outcomes in adulthood is inadequate. The USPSTF found inadequate evidence on the harms of treatment. Therefore, the USPSTF concludes that the current evidence is insufficient and that the balance of benefits and harms of screening for adolescent idiopathic scoliosis cannot be determined. The USPSTF concludes that the current evidence is insufficient to assess the balance of benefits and harms of screening for adolescent idiopathic scoliosis in children and adolescents aged 10 to 18 years. (I statement).

  5. Correlates and prevalence of hypogonadism in patients with early- and late-onset type 2 diabetes.

    PubMed

    Li, Y; Zhang, M; Liu, X; Cui, W; Rampersad, S; Li, F; Lin, Z; Yang, P; Li, H; Sheng, C; Cheng, X; Qu, S

    2017-07-01

    This study aims to compare the prevalence of hypogonadism between male patients with early-onset type 2 diabetes mellitus (T2DM) and late-onset type 2 diabetes. A total of 122 male patients with early-onset T2DM (diagnosis age ≤40 years) and 100 male patients with late-onset T2DM (diagnosis age >40 years) were recruited from our in-patient department between 1 January 2013 and 28 December 2015. Serum FSH, LH, testosterone, lipid profile, uric acid, HbA1c, and beta-cell function were determined in blood samples. The diagnosis of hypogonadism was based on the levels of LH, FSH, and total testosterone. The mean onset age was 29.86 ± 6.31 and 54.47 ± 9.97 years old in the early-onset group and late-onset group, respectively. Compared with late-onset T2DM, those with early-onset T2DM had a higher proportion of new-onset diabetes, were more likely to be obese, and had worse glycemic control, lipid control, and lower sex hormone-binding globulin (SHBG). The prevalence of hypogonadism was much higher in the early-onset group than in the late-onset group (48.0% vs. 26.7%, p < 0.05). The rate of secondary hypogonadism in the early-onset group and late-onset group were 44.3% and 25.0%, respectively (p < 0.05). Obesity, waist circumference, and SHBG were significantly associated with serum total testosterone level in all, early-onset, and late-onset T2DM. Both all and early-onset T2DM groups had positive correlations between total testosterone and fasting C-peptide, total cholesterol, triglycerides, and uric acid. Our results indicate that in a population of admission to a large urban hospital in China, the prevalence of hypogonadism was higher in the patients with early-onset T2DM than that of late-onset T2DM. This prevalence might be attributable to greater obesity, worse lipid control, and lower SHBG levels in those patients. © 2017 American Society of Andrology and European Academy of Andrology.

  6. Early identification of 'acute-onset' chronic inflammatory demyelinating polyneuropathy.

    PubMed

    Sung, Jia-Ying; Tani, Jowy; Park, Susanna B; Kiernan, Matthew C; Lin, Cindy Shin-Yi

    2014-08-01

    Distinguishing patients with acute-onset chronic inflammatory demyelinating polyneuropathy from acute inflammatory demyelinating polyneuropathy prior to relapse is often challenging at the onset of their clinical presentation. In the present study, nerve excitability tests were used in conjunction with the clinical phenotype and disease staging, to differentiate between patients with acute-onset chronic inflammatory demyelinating polyneuropathy and patients with acute inflammatory demyelinating polyneuropathy at an early stage, with the aim to better guide treatment. Clinical assessment, staging and nerve excitability tests were undertaken on patients initially fulfilling the diagnostic criteria of acute inflammatory demyelinating polyneuropathy soon after symptom onset and their initial presentation. Patients were subsequently followed up for minimum of 12 months to determine if their clinical presentations were more consistent with acute-onset chronic inflammatory demyelinating polyneuropathy. Clinical severity as evaluated by Medical Research Council sum score and Hughes functional grading scale were not significantly different between the two cohorts. There was no difference between the time of onset of initial symptoms and nerve excitability test assessment between the two cohorts nor were there significant differences in conventional nerve conduction study parameters. However, nerve excitability test profiles obtained from patients with acute inflammatory demyelinating polyneuropathy demonstrated abnormalities in the recovery cycle of excitability, including significantly reduced superexcitability (P < 0.001) and prolonged relative refractory period (P < 0.01), without changes in threshold electrotonus. In contrast, in patients with acute-onset chronic inflammatory demyelinating polyneuropathy, a different pattern occurred with the recovery cycle shifted downward (increased superexcitability, P < 0.05; decreased subexcitability, P < 0.05) and increased

  7. Whole Exome Analysis of Early Onset Alzheimer’s Disease

    DTIC Science & Technology

    2015-04-01

    autosomal recessive early-onset Parkinson’s disease and juvenile Parkinson disease , Parkin has been shown to promote intracellular Abeta1–42 clearance [15... Parkinsonism . Conclusions Mutations were found in 6/50 families. The presence of an APOE-4 allele may account for disease status in one affected non...AD_________________ Award Number: W81XWH-12-1-0013 TITLE: Whole Exome Analysis of Early Onset Alzheimer’s Disease PRINCIPAL INVESTIGATOR

  8. Scoliosis Screening: An Approach Used in the School.

    ERIC Educational Resources Information Center

    Miller, Dean; Lever, Carol Sue

    1982-01-01

    A screening program for the detection of scoliosis was initiated in four Toledo, Ohio area schools. The primary objective of the program was to provide early diagnosis so that bracing might help to avoid surgical treatment later. Recommendations include: (1) yearly examinations; (2) examination of the siblings of afflicted students; and (3) movies…

  9. Are early-onset cannabis smokers at an increased risk of depression spells?

    PubMed

    Fairman, Brian J; Anthony, James C

    2012-04-01

    A recent research focus is a set of hypothesized adult-onset mental health disturbances possibly due to early-onset cannabis use (EOCU, onset <18 years). We seek to estimate the suspected EOCU-associated excess odds of experiencing an incident depression spell during adulthood, with comparisons to never cannabis smokers and those with delayed cannabis onset (i.e., not starting to smoke cannabis until adulthood). The National Surveys on Drug Use and Health (NSDUH) assess non-institutionalized community-dwelling residents of the United States after probability sampling each year. In aggregate, the NSDUH analytical sample included 173,775 adult participants from survey years 2005-2009 (74-76% of designated respondents). Standardized computer-assisted interviews collected information on background determinants, age of first cannabis use, and depression spell onset. Logistic regression was used to estimate EOCU-depression spell associations in the form of odds ratios, with statistical adjustment for sex, age, race/ethnicity, years of cannabis involvement, tobacco cigarette onset, and alcohol onset. About 1 in 10 experienced a depression spell during adulthood, and both early-onset and adult-onset cannabis smokers had a modest excess odds of a depression spell compared to never cannabis smokers, even with covariate adjustment (OR=1.7 and 1.8, respectively; both p<0.001). Estimates for early- and adult-onset cannabis smokers did not statistically differ from one another. Shared diathesis that might influence both EOCU and adult-onset depression spell is controlled no more than partially, as will be true until essentially all known early-life shared vulnerabilities are illuminated. Cannabis smoking initiated at any age signals a modest increased risk of a spell of depression in adulthood, even when adjusted for suspected confounding variables studied here. Delaying cannabis onset until adulthood does not appear to diminish the cannabis-associated risk. Copyright © 2011

  10. Are early-onset cannabis smokers at an increased risk of depression spells?

    PubMed Central

    Fairman, Brian J.; Anthony, James C.

    2012-01-01

    Background A recent research focus is a set of hypothesized adult-onset mental health disturbances possibly due to early-onset cannabis use (EOCU, onset <18 years). We seek to estimate the suspected EOCU-associated excess odds of experiencing an incident depression spell during adulthood, with comparisons to never cannabis smokers and those with delayed cannabis onset (i.e., not starting to smoke cannabis until adulthood). Methods The National Surveys on Drug Use and Health (NSDUH) assess non-institutionalized community-dwelling residents of the United States after probability sampling each year. In aggregate, the NSDUH analytical sample included 173,775 adult participants from survey years 2005–2009 (74–76% of designated respondents). Standardized computer-assisted interviews collected information on background determinants, age of first cannabis use, and depression spell onset. Logistic regression was used to estimate EOCU-depression spell associations in the form of odds ratios, with statistical adjustment for sex, age, race/ethnicity, years of cannabis involvement, tobacco cigarette onset, and alcohol onset. Results About 1 in 10 experienced a depression spell during adulthood, and both early-onset and adult-onset cannabis smokers had a modest excess odds of a depression spell compared to never cannabis smokers, even with covariate adjustment (OR = 1.7 & 1.8, respectively; both p<0.001). Estimates for early- and adult-onset cannabis smokers did not statistically differ from one another. Limitations Shared diathesis that might influence both EOCU and adult-onset depression spell is controlled no more than partially, as will be true until essentially all known early-life shared vulnerabilities are illuminated. Conclusion Cannabis smoking initiated at any age signals a modest increased risk of a spell of depression in adulthood, even when adjusted for suspected confounding variables studied here. Delaying cannabis onset until adulthood does not appear to

  11. Risk Factors for Developing Scoliosis in Cerebral Palsy: A Cross-Sectional Descriptive Study.

    PubMed

    Bertoncelli, Carlo M; Solla, Federico; Loughenbury, Peter R; Tsirikos, Athanasios I; Bertoncelli, Domenico; Rampal, Virginie

    2017-06-01

    This study aims to identify the risk factors leading to the development of severe scoliosis among children with cerebral palsy. A cross-sectional descriptive study of 70 children (aged 12-18 years) with severe spastic and/or dystonic cerebral palsy treated in a single specialist unit is described. Statistical analysis included Fisher exact test and logistic regression analysis to identify risk factors. Severe scoliosis is more likely to occur in patients with intractable epilepsy ( P = .008), poor gross motor functional assessment scores ( P = .018), limb spasticity ( P = .045), a history of previous hip surgery ( P = .048), and nonambulatory patients ( P = .013). Logistic regression model confirms the major risk factors are previous hip surgery ( P = .001), moderate to severe epilepsy ( P = .007), and female gender ( P = .03). History of previous hip surgery, intractable epilepsy, and female gender are predictors of developing severe scoliosis in children with cerebral palsy. This knowledge should aid in the early diagnosis of scoliosis and timely referral to specialist services.

  12. Various attitudes to the use of corrective exercises in conservative treatment of scoliosis.

    PubMed

    Nowotny, Janusz; Nowotny-Czupryna, Olga; Czupryna, Krzysztof

    2010-01-01

    In acquired scoliosis, the degree of the curve is initially low and its type becomes apparent only after it has progressed. The characteristics of scoliosis include an abnormal spatial arrangement of individual body segments, which the central nervous system (CNS) interprets as a defect and automatically launches compensatory mechanisms. Neglecting low-degree scoliosis poses a two-fold danger. It usually leads to the development of structural changes, while the child gets used to the abnormal body arrangement, thus reinforcing the poor postural habits. The basic aim of early rehabilitation is to manage the compensatory mechanisms and prevent the development of adverse secondary changes, rehabilitation in scoliosis being no exception.Some cases of scoliosis require surgery. The point is to minimise the changes resulting from the progression of scoliosis. The role of corrective exercises seems to be significant here. However, views on the usefulness of such exercises are sometimes extremely varied, even though both favourable and sceptical opinions are not fully supported by the literature. However, a number of reports indicate that corrective exercises are useful.
    The selection and of corrective exercises and how they should be performed are another question. A number of methods of conservative treatment of scoliosis have been devised. Currently, none of them is considered a comprehensive regimen since each patient requires an individual approach. The most difficult aspect is to ensure that local correction translates to the automatic maintenance of the corrected body posture in a standing position. This is facilitated by corrective exercises supported with biofeedback.
    The aim of this paper is to elucidate this complex issue that often leads to divergent and improper attitudes to the conservative treatment of scoliosis.

  13. Key goals and indicators for successful aging of adults with early-onset disability.

    PubMed

    LaPlante, Mitchell P

    2014-01-01

    Substantial improvements have occurred in the longevity of several groups of individuals with early-onset disabilities, with many now surviving to advanced ages. This paper estimates the population of adults aging with early-onset disabilities at 12-15 million persons. Key goals for the successful aging of adults with early-onset disabilities are discussed, emphasizing reduction in risks for aging-related chronic disease and secondary conditions, while promoting social participation and independence. However, indicators suggest that elevated risk factors for aging-related chronic diseases, including smoking, obesity, and inactivity, as well as barriers to prevention and the diminished social and economic situation of adults with disabilities are continuing impediments to successful aging that must be addressed. Increased provider awareness that people with early-onset disabilities are aging and can age successfully and the integration of disability and aging services systems are transformative steps that will help adults with early-onset disability to age more successfully. Copyright © 2014 Elsevier Inc. All rights reserved.

  14. Mutations of maturity-onset diabetes of the young (MODY) genes in Thais with early-onset type 2 diabetes mellitus.

    PubMed

    Plengvidhya, Nattachet; Boonyasrisawat, Watip; Chongjaroen, Nalinee; Jungtrakoon, Prapaporn; Sriussadaporn, Sutin; Vannaseang, Sathit; Banchuin, Napatawn; Yenchitsomanus, Pa-thai

    2009-06-01

    Six known genes responsible for maturity-onset diabetes of the young (MODY) were analysed to evaluate the prevalence of their mutations in Thai patients with MODY and early-onset type 2 diabetes. Fifty-one unrelated probands with early-onset type 2 diabetes, 21 of them fitted into classic MODY criteria, were analysed for nucleotide variations in promoters, exons, and exon-intron boundaries of six known MODY genes, including HNF-4alpha, GCK, HNF-1alpha, IPF-1, HNF-1beta, and NeuroD1/beta2, by the polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) method followed by direct DNA sequencing. Missense mutations or mutations located in regulatory region, which were absent in 130 chromosomes of non-diabetic controls, were classified as potentially pathogenic mutations. We found that mutations of the six known MODY genes account for a small proportion of classic MODY (19%) and early-onset type 2 diabetes (10%) in Thais. Five of these mutations are novel including GCK R327H, HNF-1alpha P475L, HNF-1alphaG554fsX556, NeuroD1-1972 G > A and NeuroD1 A322N. Mutations of IPF-1 and HNF-1beta were not identified in the studied probands. Mutations of the six known MODY genes may not be a major cause of MODY and early-onset type 2 diabetes in Thais. Therefore, unidentified genes await discovery in a majority of Thai patients with MODY and early-onset type 2 diabetes.

  15. [Clinical characteristics and renal uric acid excretion in early-onset gout patients].

    PubMed

    Li, Q H; Liang, J J; Chen, L X; Mo, Y Q; Wei, X N; Zheng, D H; Dai, L

    2018-03-01

    Objective: To investigate clinical characteristics and renal uric acid excretion in early-onset gout patients. Methods: Consecutive inpatients with primary gout were recruited between 2013 and 2017. The patients with gout onset younger than 30 were defined as early-onset group while the others were enrolled as control group. Clinical characteristics and uric acid (UA) indicators were compared between two groups. Results: Among 202 recruited patients, the early-onset group included 36 patients (17.8%). Compared with control group, the early-onset group presented more patients with obesity [13 patients (36.1%) vs. 22 patients (13.3%), P< 0.05], significantly higher serum UA level [(634±124)μmol/L vs.(527±169)μmol/L] and glomerular load of UA[(7.2±2.8)mg·min(-1)·1.73m(-2) vs. (4.4±2.2)mg·min(-1)·1.73m(-2)] and estimated glomerular filtration rate (GFR) [(83±21)ml·min(-1)·1.73m(-2) vs. (67±21)ml·min(-1)·1.73m(-2)] (all P< 0.05), lower fractional excretion of UA [4.4% (3.4%,6.1%) vs. 7.2% (5.2%,9.6%), P< 0.05], whereas 24h urinary UA excretion was comparable [(2 788±882)μmol/1.73m(2) vs. (2 645±1 140)μmol/1.73m(2), P= 0.274]. Subgroup analysis of patients without chronic kidney disease showed significantly lower fractional excretion of UA in the early-onset group [4.5%(3.3%,6.1%) vs. 6.7% (5.1%,8.7%), P< 0.05]. Logistic regression analysis showed that obesity ( OR= 3.25) and fractional excretion of UA less than 7% ( OR= 9.01, all P< 0.05) were risk factors of gout early onset. Conclusion: The gout patients with early-onset younger than 30 present high serum and glomerular load of uric acid which might be due to obesity and relative under-excretion of renal uric acid.

  16. [Treatment of juvenile scoliosis: Increasing the lengthening interval with the growing rod technique should not necessarily compromise thoracic growth].

    PubMed

    Pizones, J; Rodríguez-López, T; Zúñiga, L; Sánchez-Mariscal, F; Álvarez-González, P; Izquierdo, E

    2014-01-01

    Serial lengthening with growing rods is recommended every six months for the treatment of early onset scoliosis. The objective of this study was to evaluate the longitudinal growth of the thorax and control of the deformity in a series of patients with juvenile scoliosis when time intervals were increased between lengthenings. Retrospective study of eight patients. The following variables were measured: the Cobb angle, the apical vertebral translation, the coronal balance, thoracic T1-L1 length, thoracic T5-T12 kyphosis, the proximal junctional kyphosis (PJK) angle, and the lumbar lordosis. Complications were recorded. Five idiopathic and three syndromic scoliosis cases (mean age 9.4 ± 1.5 years) were evaluated. The initial surgery was followed by with an average of two distractions per patient. The mean time between distractions was 15.7 months. The final coronal main curve correction was 58%. Apical translation and coronal balance were improved and maintained after the surgeries. The thoracic (T1-L1) preoperative length was 20.8 cm, the postoperative length was 24.4 cm, and the final length was 26 cm. At the end of follow-up, the average growth of the thorax was 5.2 cm. The preoperative (T5-T12) kyphosis was 33.5°, and final 32.1°. The change in the PJK angle was 2.5° at the end of follow-up. Most complications were related to instrumentation. Two superficial wound infections were encountered. For less severe juvenile scoliosis patients treated with growing rods, spacing out lengthenings over more than a year can decrease the number of surgeries, while still controlling the deformity and allowing longitudinal thoracic growth. Copyright © 2014 SECOT. Published by Elsevier Espana. All rights reserved.

  17. Characterization of Early Partial Seizure Onset: Frequency, Complexity and Entropy

    PubMed Central

    Jouny, Christophe C.; Bergey, Gregory K.

    2011-01-01

    Objective A clear classification of partial seizures onset features is not yet established. Complexity and entropy have been very widely used to describe dynamical systems, but a systematic evaluation of these measures to characterize partial seizures has never been performed. Methods Eighteen different measures including power in frequency bands up to 300Hz, Gabor atom density (GAD), Higuchi fractal dimension (HFD), Lempel-Ziv complexity, Shannon entropy, sample entropy, and permutation entropy, were selected to test sensitivity to partial seizure onset. Intracranial recordings from forty-five patients with mesial temporal, neocortical temporal and neocortical extratemporal seizure foci were included (331 partial seizures). Results GAD, Lempel-Ziv complexity, HFD, high frequency activity, and sample entropy were the most reliable measures to assess early seizure onset. Conclusions Increases in complexity and occurrence of high-frequency components appear to be commonly associated with early stages of partial seizure evolution from all regions. The type of measure (frequency-based, complexity or entropy) does not predict the efficiency of the method to detect seizure onset. Significance Differences between measures such as GAD and HFD highlight the multimodal nature of partial seizure onsets. Improved methods for early seizure detection may be achieved from a better understanding of these underlying dynamics. PMID:21872526

  18. CDKL5 and ARX mutations in males with early-onset epilepsy.

    PubMed

    Mirzaa, Ghayda M; Paciorkowski, Alex R; Marsh, Eric D; Berry-Kravis, Elizabeth M; Medne, Livija; Alkhateeb, Asem; Grix, Art; Wirrell, Elaine C; Powell, Berkley R; Nickels, Katherine C; Burton, Barbara; Paras, Andrea; Kim, Katherine; Chung, Wendy; Dobyns, William B; Das, Soma

    2013-05-01

    Mutations in CDKL5 and ARX are known causes of early-onset epilepsy and severe developmental delay in males and females. Although numerous males with ARX mutations associated with various phenotypes have been reported in the literature, the majority of CDKL5 mutations have been identified in females with a phenotype characterized by early-onset epilepsy, severe global developmental delay, absent speech, and stereotypic hand movements. To date, only 10 males with CDKL5 mutations have been reported. Our retrospective study reports on the clinical, neuroimaging, and molecular findings of 18 males with early-onset epilepsy caused by either CDKL5 or ARX mutations. These 18 patients include eight new males with CDKL5 mutations and 10 with ARX mutations identified through sequence analysis of 266 and 346 males, respectively, at our molecular diagnostic laboratory. Our large dataset therefore expands on the number of reported males with CDKL5 mutations and highlights that aberrations of CDKL5 and ARX combined are an important consideration in the genetic forms of early-onset epilepsy in boys. Copyright © 2013 Elsevier Inc. All rights reserved.

  19. CDKL5 and ARX mutations in males with early-onset epilepsy

    PubMed Central

    Mirzaa, Ghayda M.; Paciorkowski, Alex R.; Marsh, Eric D.; Berry-Kravis, Elizabeth M.; Medne, Livija; Grix, Art; Wirrell, Elaine C.; Powell, Berkley R.; Nickels, Katherine C.; Burton, Barbara; Paras, Andrea; Kim, Katherine; Chung, Wendy; Dobyns, William B.; Das, Soma

    2013-01-01

    Mutations in CDKL5 and ARX are known causes of early-onset epilepsy and severe developmental delay in males and females. While numerous males with ARX mutations associated with various phenotypes have been reported in the literature, the majority of CDKL5 mutations have been identified in females with a phenotype characterized by early-onset epilepsy, severe global developmental delay, absent speech, and stereotypic hand movements. To date, only ten males with CDKL5 mutations have been reported. Our retrospective study reports on the clinical, neuroimaging and molecular findings of 18 males with early-onset epilepsy caused by either CDKL5 or ARX mutations. The 18 patients include eight new males with CDKL5 mutations and ten with ARX mutations identified through sequence analysis of 266 and 346 males, respectively, at our molecular diagnostic laboratory. Our large data set therefore expands on the number of reported males with CDKL5 mutations and highlights that aberrations of CDKL5 and ARX combined are an important consideration in the genetic forms of early-onset epilepsy. PMID:23583054

  20. [Physical therapy for idiopathic scoliosis].

    PubMed

    Steffan, K

    2015-11-01

    The objective is the description and summary of the current state of idiopathic scoliosis treatment with physical therapy based on new scientific knowledge and concluded from more than 15 years of experience as a leading physician in two well-known clinics specializing in the conservative treatment of scoliosis. Based on current scientific publications on physical therapy in scoliosis treatment and resulting from the considerable personal experience gained working with conservative treatment and consulting scoliosis patients (as inpatients and outpatients), the current methods of physical therapy have been compared and evaluated. Physical therapy according to Schroth and Vojta therapy are at present the most common and effective methods in the physical treatment of idiopathic scoliosis. These methods can be applied during inpatient or outpatient treatment or intensified in the practice of specialized therapists. As there are only a few scientific studies on this subject, the author's findings are based mainly on his own experiences of the conservative treatment of idiopathic scoliosis. Athough these experiences are the results of over 15 years of working in the field of therapy, and the Schroth method in combination with corrective bracing presents highly promising results, it would nevertheless be desirable to conduct detailed scientific studies to verify the effectiveness of conservative treatment.

  1. Transforming Growth Factor-Beta (TGF-β) Signaling in Paravertebral Muscles in Juvenile and Adolescent Idiopathic Scoliosis

    PubMed Central

    Kwiecien, Magdalena

    2014-01-01

    Most researchers agree that idiopathic scoliosis (IS) is a multifactorial disease influenced by complex genetic and environmental factors. The onset of the spinal deformity that determines the natural course of the disease, usually occurs in the juvenile or adolescent period. Transforming growth factors β (TGF-βs) and their receptors, TGFBRs, may be considered as candidate genes related to IS susceptibility and natural history. This study explores the transcriptional profile of TGF-βs, TGFBRs, and TGF-β responsive genes in the paravertebral muscles of patients with juvenile and adolescent idiopathic scoliosis (JIS and AIS, resp.). Muscle specimens were harvested intraoperatively and grouped according to the side of the curve and the age of scoliosis onset. The results of microarray and qRT-PCR analysis confirmed significantly higher transcript abundances of TGF-β2, TGF-β3, and TGFBR2 in samples from the curve concavity of AIS patients, suggesting a difference in TGF-β signaling in the pathogenesis of juvenile and adolescent curves. Analysis of TGF-β responsive genes in the transcriptomes of patients with AIS suggested overrepresentation of the genes localized in the extracellular region of curve concavity: LTBP3, LTBP4, ITGB4, and ITGB5. This finding suggests the extracellular region of paravertebral muscles as an interesting target for future molecular research into AIS pathogenesis. PMID:25313366

  2. Early onset dementia in New Zealand Pacific boxers: a case series.

    PubMed

    Payman, Vahid; Yates, Susan; Cullum, Sarah

    2018-05-04

    To describe the biopsychosocial characteristics of a series of Pacific men living in South Auckland with a history of boxing presenting with early onset dementia. We discuss the history of boxing in Pacific people and the possibility of increased risk of early onset dementia in New Zealand Pacific men compared to their European counterparts. We reviewed the files of Pacific men with a history of amateur or professional boxing who presented to our memory and older adult mental health services with early onset dementia over a 45-month period. We gathered relevant information to construct a biopsychosocial paradigm as possible explanation of this phenomenon. We identified a series of eight New Zealand Pacific men with early onset dementia and with a history of boxing. Alcohol was a contributing factor in seven of the eight cases, and vascular risk factors in five. Historical, cultural and socio-economic factors underpin the attraction of some Pacific men to boxing as a sport. Given that New Zealand Pacific peoples may have an earlier onset of dementia than their European counterparts, further research is required to establish whether boxing is a contributory factor. Sports physicians should advise young New Zealand Pacific boxers about the long-term risks associated with their sport.

  3. Relevance of the hygiene hypothesis to early vs. late onset allergic rhinitis.

    PubMed

    Matheson, M C; Walters, E H; Simpson, J A; Wharton, C L; Ponsonby, A-L; Johns, D P; Jenkins, M A; Giles, G G; Hopper, J L; Abramson, M J; Dharmage, S C

    2009-03-01

    The hygiene hypothesis proposes that reduced exposure to infections in early life increases the risk of developing allergic conditions including allergic rhinitis. We examined the association between markers of the hygiene hypothesis and allergic rhinitis that developed before 7 years of age and allergic rhinitis that developed after 7 years of age. The Tasmanian Longitudinal Health Study (TAHS) is a population-based cohort (n=8583) study of respiratory disease. Participants have been followed from 7 to 44 years of age. Information on potential risk factors, allergies and respiratory symptoms was collected longitudinally. Using multi-nomial logistic regression, exposure to siblings, infections, tonsillectomy and farm residence during childhood were examined as risk factors for allergic rhinitis that developed before or after 7 years of age. All analyses were adjusted for gender, maternal and paternal atopy, mother's age at participant's birth, paternal socio-economic status in 1968 and personal socio-economic status in 2004. Greater cumulative exposure to siblings before the age of 2 years was strongly inversely associated with early onset allergic rhinitis (<1 year sib exposure: OR=0.6, 95% CI 0.3-1.0; 1-3 years sib exposure: OR=0.6, 95% CI 0.4-0.9; >3 years sib exposure: OR=0.4, 95% CI 0.3-0.8) less so with later onset allergic rhinitis. The risk of early onset allergic rhinitis decreased with increasing viral infections (OR=0.7, 95% CI 0.5-0.9) during childhood. Having a tonsillectomy before 7 years of age increased the risk of early onset allergic rhinitis (OR=1.7, 95% CI 1.2-2.5). None of these factors was associated with later onset allergic rhinitis. Exposures relevant to the hygiene hypothesis were important predictors for the development of early onset but less so for later onset allergic rhinitis. The exact mechanisms by which siblings and infections protect against allergic rhinitis are unclear. The stronger findings for earlier onset allergic rhinitis

  4. Increased genetic vulnerability to smoking at CHRNA5 in early-onset smokers.

    PubMed

    Hartz, Sarah M; Short, Susan E; Saccone, Nancy L; Culverhouse, Robert; Chen, LiShiun; Schwantes-An, Tae-Hwi; Coon, Hilary; Han, Younghun; Stephens, Sarah H; Sun, Juzhong; Chen, Xiangning; Ducci, Francesca; Dueker, Nicole; Franceschini, Nora; Frank, Josef; Geller, Frank; Gubjartsson, Daniel; Hansel, Nadia N; Jiang, Chenhui; Keskitalo-Vuokko, Kaisu; Liu, Zhen; Lyytikäinen, Leo-Pekka; Michel, Martha; Rawal, Rajesh; Rosenberger, Albert; Scheet, Paul; Shaffer, John R; Teumer, Alexander; Thompson, John R; Vink, Jacqueline M; Vogelzangs, Nicole; Wenzlaff, Angela S; Wheeler, William; Xiao, Xiangjun; Yang, Bao-Zhu; Aggen, Steven H; Balmforth, Anthony J; Baumeister, Sebastian E; Beaty, Terri; Bennett, Siiri; Bergen, Andrew W; Boyd, Heather A; Broms, Ulla; Campbell, Harry; Chatterjee, Nilanjan; Chen, Jingchun; Cheng, Yu-Ching; Cichon, Sven; Couper, David; Cucca, Francesco; Dick, Danielle M; Foroud, Tatiana; Furberg, Helena; Giegling, Ina; Gu, Fangyi; Hall, Alistair S; Hällfors, Jenni; Han, Shizhong; Hartmann, Annette M; Hayward, Caroline; Heikkilä, Kauko; Hewitt, John K; Hottenga, Jouke Jan; Jensen, Majken K; Jousilahti, Pekka; Kaakinen, Marika; Kittner, Steven J; Konte, Bettina; Korhonen, Tellervo; Landi, Maria-Teresa; Laatikainen, Tiina; Leppert, Mark; Levy, Steven M; Mathias, Rasika A; McNeil, Daniel W; Medland, Sarah E; Montgomery, Grant W; Muley, Thomas; Murray, Tanda; Nauck, Matthias; North, Kari; Pergadia, Michele; Polasek, Ozren; Ramos, Erin M; Ripatti, Samuli; Risch, Angela; Ruczinski, Ingo; Rudan, Igor; Salomaa, Veikko; Schlessinger, David; Styrkársdóttir, Unnur; Terracciano, Antonio; Uda, Manuela; Willemsen, Gonneke; Wu, Xifeng; Abecasis, Goncalo; Barnes, Kathleen; Bickeböller, Heike; Boerwinkle, Eric; Boomsma, Dorret I; Caporaso, Neil; Duan, Jubao; Edenberg, Howard J; Francks, Clyde; Gejman, Pablo V; Gelernter, Joel; Grabe, Hans Jörgen; Hops, Hyman; Jarvelin, Marjo-Riitta; Viikari, Jorma; Kähönen, Mika; Kendler, Kenneth S; Lehtimäki, Terho; Levinson, Douglas F; Marazita, Mary L; Marchini, Jonathan; Melbye, Mads; Mitchell, Braxton D; Murray, Jeffrey C; Nöthen, Markus M; Penninx, Brenda W; Raitakari, Olli; Rietschel, Marcella; Rujescu, Dan; Samani, Nilesh J; Sanders, Alan R; Schwartz, Ann G; Shete, Sanjay; Shi, Jianxin; Spitz, Margaret; Stefansson, Kari; Swan, Gary E; Thorgeirsson, Thorgeir; Völzke, Henry; Wei, Qingyi; Wichmann, H-Erich; Amos, Christopher I; Breslau, Naomi; Cannon, Dale S; Ehringer, Marissa; Grucza, Richard; Hatsukami, Dorothy; Heath, Andrew; Johnson, Eric O; Kaprio, Jaakko; Madden, Pamela; Martin, Nicholas G; Stevens, Victoria L; Stitzel, Jerry A; Weiss, Robert B; Kraft, Peter; Bierut, Laura J

    2012-08-01

    Recent studies have shown an association between cigarettes per day (CPD) and a nonsynonymous single-nucleotide polymorphism in CHRNA5, rs16969968. To determine whether the association between rs16969968 and smoking is modified by age at onset of regular smoking. Primary data. Available genetic studies containing measures of CPD and the genotype of rs16969968 or its proxy. Uniform statistical analysis scripts were run locally. Starting with 94,050 ever-smokers from 43 studies, we extracted the heavy smokers (CPD >20) and light smokers (CPD ≤10) with age-at-onset information, reducing the sample size to 33,348. Each study was stratified into early-onset smokers (age at onset ≤16 years) and late-onset smokers (age at onset >16 years), and a logistic regression of heavy vs light smoking with the rs16969968 genotype was computed for each stratum. Meta-analysis was performed within each age-at-onset stratum. Individuals with 1 risk allele at rs16969968 who were early-onset smokers were significantly more likely to be heavy smokers in adulthood (odds ratio [OR] = 1.45; 95% CI, 1.36-1.55; n = 13,843) than were carriers of the risk allele who were late-onset smokers (OR = 1.27; 95% CI, 1.21-1.33, n = 19,505) (P = .01). These results highlight an increased genetic vulnerability to smoking in early-onset smokers.

  5. Infection after anterior spinal fusion for idiopathic scoliosis using the Cotrel-Dubousset-Hopf system: A clinical case series of three patients.

    PubMed

    Tolk, Jaap J; Willems, Paul C; Punt, Ilona M; van Rhijn, Lodewijk W; van Ooij, André

    2016-01-01

    Three patients with late-onset infection after multilevel instrumented anterior spinal fusion for idiopathic scoliosis, using the Cotrel-Dubousset-Hopf (CDH) system, are presented. The CDH-system is an anterior instrumentation with high biomechanical stability and rigidity, ensuring a stable primary fixation. Unlike after posterior spinal fusion, infection after anterior spinal fusion (ASF) for idiopathic scoliosis has rarely been reported. The files of three patients who developed an infection after ASF for scoliosis using the CDH-system, were reviewed. The clinical presentation and diagnostic and therapeutic options are discussed. All three patients had a late-onset infection of the CDH-system, which was difficult to diagnose because of nonspecific symptoms. Radiographs and technetium bone scan appeared to be of low value. When an abscess was present, this could accurately be diagnosed with MRI or CT imaging. Operative treatment with implant removal and antibiotic therapy was successful in all cases. Late onset infections after ASF using the CDH-system presented with few and nonspecific symptoms. The clinical presentation was mainly characterized by vague abdominal- or back-pain after an interval of normal postoperative recovery, moderately raised infection parameters and inconclusive findings with imaging modalities. As treatment, implant removal, debridement and parenteral antibiotics are recommended. It should be noted though that implant removal poses serious risks for vascular and visceral structures.

  6. Operational Thought in Alzheimer's Disease Early Onset and SDAT.

    ERIC Educational Resources Information Center

    Emery, Olga B.; Breslau, Lawrence D.

    For more than a decade it has been convention to assume that senile dementia Alzheimer's type (SDAT) and Alzheimer's disease early onset represent a unitary disease process with only an onset difference. This assumption has been neither confirmed nor disconfirmed. To address this issue, a study was conducted which analyzed the dissolution of…

  7. The clinical and histopathological characteristics of early-onset basal cell carcinoma in Asians.

    PubMed

    Yang, M Y; Kim, J M; Kim, G W; Mun, J H; Song, M; Ko, H C; Kim, B S; Kim, H S; Kim, M B

    2017-01-01

    Basal cell carcinoma (BCC) is by far the most common cancer in white populations. In addition, recent reports have demonstrated an increasing incidence of BCC in Korea. We have observed a significant number of early-onset BCC cases in which the disease occurred in patients younger than 50 years. To investigate the clinicopathological characteristics of early-onset BCC in an Asian population, specifically in Koreans. One hundred and five patients with early-onset BCC were enrolled from a total of 1047 BCC patients who underwent surgery between January 1997 and December 2014 (942 patients over the age of 50 years were designated as the control group). Early-onset BCC accounted for 10.03% of all 1047 cases and the incidence over time displayed an incremental trend. The early-onset group displayed similar results as the control group, with a predominance of female BCC patients and the majority of tumours displaying the following characteristics: small in size, occurring in sun-exposed areas and belonging to the noduloulcerative clinical subtype and nodular histopathological subtype. In comparison with a previous study in a Western population, the incidence of the disease in non-exposed areas of the body, as well as the proportion of tumours of the superficial histological subtype, were lower in Asian patients. Although the clinicopathological characteristics of BCC are well-known, these characteristics have not been determined for early-onset BCC in an Asian population. Therefore, this study is the first report on early-onset BCC in Asians, specifically in a Korean patient group. © 2016 European Academy of Dermatology and Venereology.

  8. Association of brain-derived neurotrophic factor (BDNF) Val66Met polymorphism with early-onset bipolar disorder.

    PubMed

    Nassan, Malik; Croarkin, Paul E; Luby, Joan L; Veldic, Marin; Joshi, Paramjit T; McElroy, Susan L; Post, Robert M; Walkup, John T; Cercy, Kelly; Geske, Jennifer R; Wagner, Karen D; Cuellar-Barboza, Alfredo B; Casuto, Leah; Lavebratt, Catharina; Schalling, Martin; Jensen, Peter S; Biernacka, Joanna M; Frye, Mark A

    2015-09-01

    Brain-derived neurotrophic factor (BDNF) Val66Met (rs6265) functional polymorphism has been implicated in early-onset bipolar disorder. However, results of studies are inconsistent. We aimed to further explore this association. DNA samples from the Treatment of Early Age Mania (TEAM) and Mayo Clinic Bipolar Disorder Biobank were investigated for association of rs6265 with early-onset bipolar disorder. Bipolar cases were classified as early onset if the first manic or depressive episode occurred at age ≤19 years (versus adult-onset cases at age >19 years). After quality control, 69 TEAM early-onset bipolar disorder cases, 725 Mayo Clinic bipolar disorder cases (including 189 early-onset cases), and 764 controls were included in the analysis of association, assessed with logistic regression assuming log-additive allele effects. Comparison of TEAM cases with controls suggested association of early-onset bipolar disorder with the rs6265 minor allele [odds ratio (OR) = 1.55, p = 0.04]. Although comparison of early-onset adult bipolar disorder cases from the Mayo Clinic versus controls was not statistically significant, the OR estimate indicated the same direction of effect (OR = 1.21, p = 0.19). When the early-onset TEAM and Mayo Clinic early-onset adult groups were combined and compared with the control group, the association of the minor allele rs6265 was statistically significant (OR = 1.30, p = 0.04). These preliminary analyses of a relatively small sample with early-onset bipolar disorder are suggestive that functional variation in BDNF is implicated in bipolar disorder risk and may have a more significant role in early-onset expression of the disorder. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  9. Childhood Risk Factors for Early-Onset Drinking*

    PubMed Central

    Donovan, John E.; Molina, Brooke S. G.

    2011-01-01

    Objective: There is relatively little research on the childhood antecedent predictors of early-onset alcohol use. This study examined an array of psychosocial variables assessed at age 10 and reflecting Problem Behavior Theory as potential antecedent risk factors for the initiation of alcohol use at age 14 or younger. Method: A sample of 452 children (238 girls) ages 8 or 10 and their families was drawn from Allegheny County, PA, using targeted-age directory sampling and random-digit dialing procedures. Children and parents were interviewed using computer-assisted interviews. Logistic regression analyses were used to examine the age-10 univariate and multivariate predictors of the initiation of alcohol use by age 14 or younger. Results: Twenty-five percent of the sample reported having more than a sip or a taste of alcohol in their life by age 14. Sex, race, and age cohort did not relate to early drinking status. Children with two parents were less likely to initiate drinking early. Early initiation of drinking related significantly to an array of antecedent risk factors (personality, social environment, and behavioral) assessed at age 10 that reflect psychosocial proneness for problem behavior. In the multivariate model, the variables most predictive of early-onset drinking were having a single parent, sipping or tasting alcohol by age 10, having parents who also started drinking at an early age, and parental drinking frequency. Conclusions: Initiation of alcohol use by age 14 reflects childhood psychosocial proneness to engage in problem behavior as measured by Problem Behavior Theory and having a family environment conducive to alcohol use. PMID:21906502

  10. Early Onset Malignancies - Genomic Study of Cancer Disparities

    Cancer.gov

    The Early Onset Malignancies Initiative studies the genomic basis of six cancers that develop at an earlier age, occur in higher rates, and are typically more aggressive in certain minority populations.

  11. Early onset type 2 diabetes: risk factors, clinical impact and management

    PubMed Central

    Idris, Iskandar

    2014-01-01

    Early onset type 2 diabetes mellitus (T2DM) is increasingly prevalent with a significant impact on the individual, healthcare service delivery and planning. The individuals are likely to be obese, lead a sedentary lifestyle, have a strong family history of T2DM, be of black and minority ethnic (BME) origin and come from a less affluent socioeconomic group. They have a heightened risk of developing microvascular and macrovascular complications, often at an earlier stage and with greater frequency than seen in type 1 diabetes. As such, early and aggressive risk factor management is warranted. Early onset T2DM is complex and impacts on service delivery with a need for multidisciplinary care of complications and comorbidities’, in addition to adequate educational and psychological support. This review on the impact of early onset T2DM provides the latest insights into this emerging epidemic. PMID:25364491

  12. Evidence for possible non-canonical pathway(s) driven early-onset colorectal cancer in India

    PubMed Central

    Raman, Ratheesh; Kotapalli, Viswakalyan; Adduri, Raju; Gowrishankar, Swarnalata; Bashyam, Leena; Chaudhary, Ajay; Vamsy, Mohana; Patnaik, Sujith; Srinivasulu, Mukta; Sastry, Regulagadda; Rao, Subramanyeshwar; Vasala, Anjayneyulu; Kalidindi, NarasimhaRaju; Pollack, Jonathan; Murthy, Sudha; Bashyam, Murali

    2012-01-01

    Two genetic instability pathways viz. chromosomal instability, driven primarily by APC mutation induced deregulated Wnt signaling, and microsatellite instability (MSI) caused by mismatch repair (MMR) inactivation, together account for greater than 90% of late-onset colorectal cancer. Our understanding of early-onset sporadic CRC is however comparatively limited. In addition, most seminal studies have been performed in the western population and analyses of tumorigenesis pathway(s) causing CRC in developing nations have been rare. We performed a comparative analysis of early and late-onset CRC from India with respect to common genetic aberrations including Wnt, KRAS and p53 (constituting the classical CRC progression sequence) in addition to MSI. Our results revealed the absence of Wnt and MSI in a significant proportion of early-onset as against late-onset CRC in India. In addition, KRAS mutation frequency was significantly lower in early-onset CRC indicating that a significant proportion of CRC in India may follow tumorigenesis pathways distinct from the classical CRC progression sequence. Our study has therefore revealed the possible existence of non-canonical tumorigenesis pathways in early-onset CRC in India. PMID:23168910

  13. Treatment of Early-Onset Schizophrenia Spectrum Disorders (TEOSS): Rationale, Design, and Methods

    ERIC Educational Resources Information Center

    McClellan, Jon; Sikich, Linmarie; Findling, Robert L.; Frazier, Jean A.; Vitiello, Benedetto; Hlastala, Stefanie A.; Williams, Emily; Ambler, Denisse; Hunt-Harrison, Tyehimba; Maloney, Ann E.; Ritz, Louise; Anderson, Robert; Hamer, Robert M.; Lieberman, Jeffrey A.

    2007-01-01

    Objective: The Treatment of Early Onset Schizophrenia Spectrum Disorders Study is a publicly funded clinical trial designed to compare the therapeutic benefits, safety, and tolerability of risperidone, olanzapine, and molindone in youths with early-onset schizophrenia spectrum disorders. The rationale, design, and methods of the Treatment of Early…

  14. Body image in patients with adolescent idiopathic scoliosis: validation of the Body Image Disturbance Questionnaire--Scoliosis Version.

    PubMed

    Auerbach, Joshua D; Lonner, Baron S; Crerand, Canice E; Shah, Suken A; Flynn, John M; Bastrom, Tracey; Penn, Phedra; Ahn, Jennifer; Toombs, Courtney; Bharucha, Neil; Bowe, Whitney P; Newton, Peter O

    2014-04-16

    Appearance concerns in individuals with adolescent idiopathic scoliosis can result in impairment in daily functioning, or body image disturbance. The Body Image Disturbance Questionnaire (BIDQ) is a self-reported, seven-question instrument that measures body image disturbance in general populations; no studies have specifically examined body image disturbance in those with adolescent idiopathic scoliosis. This study aimed to validate a modified version of the BIDQ in a population with adolescent idiopathic scoliosis and to establish discriminant validity by comparing responses of operatively and nonoperatively treated patients with those of normal controls. In the first phase, a multicenter study of forty-nine patients (mean age, fourteen years; thirty-seven female) with adolescent idiopathic scoliosis was performed to validate the BIDQ-Scoliosis version (BIDQ-S). Participants completed the BIDQ-S, Scoliosis Research Society (SRS)-22, Children's Depression Index (CDI), and Body Esteem Scale for Adolescents and Adults (BESAA) questionnaires. Descriptive statistics and Pearson correlation coefficients were calculated. In the second phase, ninety-eight patients with adolescent idiopathic scoliosis (mean age, 15.7 years; seventy-five female) matched by age and sex with ninety-eight healthy adolescents were enrolled into a single-center study to evaluate the discriminant validity of the BIDQ-S. Subjects completed the BIDQ-S and a demographic form before treatment. Independent-sample t tests and Pearson correlation coefficients were calculated. The BIDQ-S was internally consistent (Cronbach alpha = 0.82), and corrected item total correlations ranged from 0.47 to 0.67. The BIDQ-S was significantly correlated with each domain of the SRS-22 and the total score (r = -0.50 to -0.72, p ≤ 0.001), with the CDI (r = 0.31, p = 0.03), and with the BESAA (r = 0.60, p < 0.001). BIDQ-S scores differed significantly between patients (1.50) and controls (1.06, p < 0.005), establishing

  15. Common variants at five new loci associated with early-onset inflammatory bowel disease.

    PubMed

    Imielinski, Marcin; Baldassano, Robert N; Griffiths, Anne; Russell, Richard K; Annese, Vito; Dubinsky, Marla; Kugathasan, Subra; Bradfield, Jonathan P; Walters, Thomas D; Sleiman, Patrick; Kim, Cecilia E; Muise, Aleixo; Wang, Kai; Glessner, Joseph T; Saeed, Shehzad; Zhang, Haitao; Frackelton, Edward C; Hou, Cuiping; Flory, James H; Otieno, George; Chiavacci, Rosetta M; Grundmeier, Robert; Castro, Massimo; Latiano, Anna; Dallapiccola, Bruno; Stempak, Joanne; Abrams, Debra J; Taylor, Kent; McGovern, Dermot; Silber, Gary; Wrobel, Iwona; Quiros, Antonio; Barrett, Jeffrey C; Hansoul, Sarah; Nicolae, Dan L; Cho, Judy H; Duerr, Richard H; Rioux, John D; Brant, Steven R; Silverberg, Mark S; Taylor, Kent D; Barmuda, M Michael; Bitton, Alain; Dassopoulos, Themistocles; Datta, Lisa Wu; Green, Todd; Griffiths, Anne M; Kistner, Emily O; Murtha, Michael T; Regueiro, Miguel D; Rotter, Jerome I; Schumm, L Philip; Steinhart, A Hillary; Targan, Stephen R; Xavier, Ramnik J; Libioulle, Cécile; Sandor, Cynthia; Lathrop, Mark; Belaiche, Jacques; Dewit, Olivier; Gut, Ivo; Heath, Simon; Laukens, Debby; Mni, Myriam; Rutgeerts, Paul; Van Gossum, André; Zelenika, Diana; Franchimont, Denis; Hugot, J P; de Vos, Martine; Vermeire, Severine; Louis, Edouard; Cardon, Lon R; Anderson, Carl A; Drummond, Hazel; Nimmo, Elaine; Ahmad, Tariq; Prescott, Natalie J; Onnie, Clive M; Fisher, Sheila A; Marchini, Jonathan; Ghori, Jilur; Bumpstead, Suzannah; Gwillam, Rhian; Tremelling, Mark; Delukas, Panos; Mansfield, John; Jewell, Derek; Satsangi, Jack; Mathew, Christopher G; Parkes, Miles; Georges, Michel; Daly, Mark J; Heyman, Melvin B; Ferry, George D; Kirschner, Barbara; Lee, Jessica; Essers, Jonah; Grand, Richard; Stephens, Michael; Levine, Arie; Piccoli, David; Van Limbergen, John; Cucchiara, Salvatore; Monos, Dimitri S; Guthery, Stephen L; Denson, Lee; Wilson, David C; Grant, Straun F A; Daly, Mark; Silverberg, Mark S; Satsangi, Jack; Hakonarson, Hakon

    2009-12-01

    The inflammatory bowel diseases (IBD) Crohn's disease and ulcerative colitis are common causes of morbidity in children and young adults in the western world. Here we report the results of a genome-wide association study in early-onset IBD involving 3,426 affected individuals and 11,963 genetically matched controls recruited through international collaborations in Europe and North America, thereby extending the results from a previous study of 1,011 individuals with early-onset IBD. We have identified five new regions associated with early-onset IBD susceptibility, including 16p11 near the cytokine gene IL27 (rs8049439, P = 2.41 x 10(-9)), 22q12 (rs2412973, P = 1.55 x 10(-9)), 10q22 (rs1250550, P = 5.63 x 10(-9)), 2q37 (rs4676410, P = 3.64 x 10(-8)) and 19q13.11 (rs10500264, P = 4.26 x 10(-10)). Our scan also detected associations at 23 of 32 loci previously implicated in adult-onset Crohn's disease and at 8 of 17 loci implicated in adult-onset ulcerative colitis, highlighting the close pathogenetic relationship between early- and adult-onset IBD.

  16. Risk of early-onset prostate cancer associated with occupation in the Nordic countries.

    PubMed

    Barry, Kathryn Hughes; Martinsen, Jan Ivar; Alavanja, Michael C R; Andreotti, Gabriella; Blair, Aaron; Hansen, Johnni; Kjærheim, Kristina; Koutros, Stella; Lynge, Elsebeth; Sparèn, Pär; Tryggvadottir, Laufey; Weiderpass, Elisabete; Berndt, Sonja I; Pukkala, Eero

    2017-12-01

    Early-onset prostate cancer is often more aggressive and may have a different aetiology than later-onset prostate cancer, but has been relatively little studied to date. We evaluated occupation in relation to early- and later-onset prostate cancer in a large pooled study. We used occupational information from census data in five Nordic countries from 1960 to 1990. We identified prostate cancer cases diagnosed from 1961 to 2005 by linkage of census information to national cancer registries and calculated standardised incidence ratios (SIRs) separately for men aged 30-49 and those aged 50 or older. We also conducted separate analyses by period of follow-up, 1961-1985 and 1986-2005, corresponding to pre- and post-prostate-specific antigen (PSA) screening. For early-onset prostate cancer (n = 1521), we observed the highest SIRs for public safety workers (e.g. firefighters) (SIR = 1.71, 95% confidence interval [CI]: 1.23-2.31) and military personnel (SIR = 1.97, 95% CI: 1.31-2.85). These SIRs were significantly higher than the SIRs for later-onset disease (for public safety workers, SIR = 1.10, 95% CI: 1.07-1.14 and for military personnel, SIR = 1.09, 95% CI: 1.05-1.13; p heterogeneity  = 0.005 and 0.002, respectively). Administrators and technical workers also demonstrated significantly increased risks for early-onset prostate cancer, but the SIRs did not differ from those of later-onset disease (p heterogeneity >0.05). While our early-onset finding for public safety workers was restricted to the post-PSA period, that for military personnel was restricted to the pre-PSA period. Our results suggest that occupational exposures, particularly for military personnel, may be associated with early-onset prostate cancer. Further evaluation is needed to explain these findings. Copyright © 2017 Elsevier Ltd. All rights reserved.

  17. Verbal and Academic Skills in Children with Early-Onset Type 1 Diabetes

    ERIC Educational Resources Information Center

    Hannonen, Riitta; Komulainen, Jorma; Eklund, Kenneth; Tolvanen, Asko; Riikonen, Raili; Ahonen, Timo

    2010-01-01

    Aim: Basic verbal and academic skills can be adversely affected by early-onset diabetes, although these skills have been studied less than other cognitive functions. This study aimed to explore the mechanism of learning deficits in children with diabetes by assessing basic verbal and academic skills in children with early-onset diabetes and in…

  18. Early-Onset Bipolar Spectrum Disorders: Diagnostic Issues

    ERIC Educational Resources Information Center

    Danner, Stephanie; Fristad, Mary A.; Arnold, L. Eugene; Youngstrom, Eric A.; Birmaher, Boris; Horwitz, Sarah M.; Demeter, Christine; Findling, Robert L.; Kowatch, Robert A.

    2009-01-01

    Since the mid 1990s, early-onset bipolar spectrum disorders (BPSDs) have received increased attention in both the popular press and scholarly press. Rates of diagnosis of BPSD in children and adolescents have increased in inpatient, outpatient, and primary care settings. BPSDs remain difficult to diagnose, particularly in youth. The current…

  19. Early Onset Marijuana Use Is Associated with Learning Inefficiencies

    PubMed Central

    Schuster, Randi Melissa; Hoeppner, Susanne S.; Evins, A. Eden; Gilman, Jodi M.

    2016-01-01

    Objective Verbal memory difficulties are the most widely reported and persistent cognitive deficit associated with early-onset marijuana use. Yet, it is not known what memory stages are most impaired in those with early marijuana use. Method Forty-eight young adults, aged 18–25, who used marijuana at least once per week and 48 matched non-using controls (CON) completed the California Verbal Learning Test, Second Edition (CVLT-II). Marijuana users were stratified by age of initial use: ‘early onset’ users (EMJ), who started using marijuana at or before age 16 (n = 27), and ‘late onset’ marijuana user group (LMJ), who started using marijuana after age 16 (n = 21). Outcome variables included trial immediate recall, total learning, clustering strategies (semantic clustering, serial clustering, ratio of semantic to serial clustering, and total number of strategies used), delayed recall, and percent retention. Results Learning improved with repetition, with no group effect on the learning slope. EMJ learned fewer words overall than LMJ or CON. There was no difference between LMJ and CON in total number of words learned. Reduced overall learning mediated the effect on reduced delayed recall among EMJ, but not CON or LMJ. Learning improved with greater use of semantic versus serial encoding, but this did not vary between groups. EMJ was not related to delayed recall after adjusting for encoding. Conclusions Young adults reporting early onset marijuana use had learning weaknesses, which accounted for the association between early onset marijuana use and delayed recall. No amnestic effect of marijuana use was observed. PMID:26986749

  20. Scoliosis in musicians and dancers.

    PubMed

    Bird, H A; Pinto, Sofia Ornellas

    2013-04-01

    Scoliosis, although often considered a condition of athletes, is very common as a cause of symptoms in performing artists. Three typical case histories are presented with a physiotherapy review. Surprisingly, scoliosis is often more of a problem in musicians than in dancers.

  1. Converging approaches to understanding early onset familial Alzheimer disease: A First Nation study

    PubMed Central

    Cabrera, Laura Y; Beattie, B Lynn; Dwosh, Emily; Illes, Judy

    2015-01-01

    Objectives: In 2007, a novel pathogenic genetic mutation associated with early onset familial Alzheimer disease was identified in a large First Nation family living in communities across British Columbia, Canada. Building on a community-based participatory study with members of the Nation, we sought to explore the impact and interplay of medicalization with the Nation’s knowledge and approaches to wellness in relation to early onset familial Alzheimer disease. Methods: We performed a secondary content analysis of focus group discussions and interviews with 48 members of the Nation between 2012 and 2013. The analysis focused specifically on geneticization, medicalization, and traditional knowledge of early onset familial Alzheimer disease, as these themes were prominent in the primary analysis. Results: We found that while biomedical explanations of disease permeate the knowledge and understanding of early onset familial Alzheimer disease, traditional concepts about wellness are upheld simultaneously. Conclusion: The analysis brings the theoretical framework of “two-eyed seeing” to the case of early onset familial Alzheimer disease for which the contributions of different ways of knowing are embraced, and in which traditional and western ways complement each other on the path of maintaining wellness in the face of progressive neurologic disease. PMID:27092264

  2. The Natural History of Idiopathic Scoliosis During Growth: A Meta-Analysis.

    PubMed

    Di Felice, Francesca; Zaina, Fabio; Donzelli, Sabrina; Negrini, Stefano

    2018-05-01

    The aim of the study was to provide a meta-analysis of current literature concerning the natural history of idiopathic scoliosis during growth. A comprehensive search of Medline, Embase, And Scopus databases was conducted up to November 2016. Eligible works were prospective or retrospective studies that enrolled patients with infantile idiopathic scoliosis, juvenile idiopathic scoliosis, or adolescent idiopathic scoliosis, followed up without any treatment from the time of detection. A meta-analysis for proportion was performed. The following studies were grouped per diagnosis: infantile idiopathic scoliosis, juvenile idiopathic scoliosis, and adolescent idiopathic scoliosis. Of the 1797 citations screened, we assessed 61 full-text articles and included 13 of these (2301 participants). Three studies included infantile idiopathic scoliosis patients (347 participants), five studies included a mixed population of juvenile idiopathic scoliosis and adolescent idiopathic scoliosis (1330 participants), and five studies included adolescent idiopathic scoliosis patients only (624 participants). The random pooled estimated progression rate was 49% (95% confidence interval = 1%-97%) for infantile idiopathic scoliosis, 49% in a mixed group of patients affected by juvenile idiopathic scoliosis or adolescent idiopathic scoliosis (95% confidence interval = 19%-79%), and 42% in adolescent idiopathic scoliosis (95% confidence interval = 11%-73%). During growth, idiopathic scoliosis tends to progress in a high percentage of cases. The progression rate varies according to the age at diagnosis, with infantile scoliosis being the most unpredictable. There are many confounders, such as age, Risser sign and baseline Cobb angles that were not consistent among studies, making the data very heterogeneous.

  3. Early-onset facioscapulohumeral muscular dystrophy type 1 with some atypical features.

    PubMed

    Dorobek, Małgorzata; van der Maarel, Silvère M; Lemmers, Richard J L F; Ryniewicz, Barbara; Kabzińska, Dagmara; Frants, Rune R; Gawel, Malgorzata; Walecki, Jerzy; Hausmanowa-Petrusewicz, Irena

    2015-04-01

    Facioscapulohumeral muscular dystrophy cases with facial weakness before the age of 5 and signs of shoulder weakness by the age of 10 are defined as early onset. Contraction of the D4Z4 repeat on chromosome 4q35 is causally related to facioscapulohumeral muscular dystrophy type 1, and the residual size of the D4Z4 repeat shows a roughly inverse correlation with the severity of the disease. Contraction of the D4Z4 repeat on chromosome 4q35 is believed to induce a local change in chromatin structure and consequent transcriptional deregulation of 4qter genes. We present early-onset cases in the Polish population that amounted to 21% of our total population with facioscapulohumeral muscular dystrophy. More than 27% of them presented with severe phenotypes (wheelchair dependency). The residual D4Z4 repeat sizes ranged from 1 to 4 units. In addition, even within early-onset facioscapulohumeral muscular dystrophy type 1 phenotypes, some cases had uncommon features (head drop, early disabling contractures, progressive ptosis, and respiratory insufficiency and cardiomyopathy). © The Author(s) 2014.

  4. Early onset epilepsy is associated with increased mortality: a population-based study

    PubMed Central

    Moseley, Brian D.; Wirrell, Elaine C.; Wong-Kisiel, Lily C.; Nickels, Katherine

    2013-01-01

    SUMMARY We examined mortality in early onset (age <12 months) epilepsy in a population-based group of children. Children with early onset epilepsy were significantly more likely to die (case fatality, CF 8/60 versus 8/407, p<0.001; mortality rate, MR 14.5/1000 versus 2/1000 person years; standardized mortality ratio, SMR 22.25 versus 5.67). Mortality was greater in children with malignant neonatal (age <1 month) epilepsy (CF 4/12 versus 12/450, p<0.001; MR 54/1000 person years versus 2.7/1000 person year; SMR 46.55 versus 7.22). Given that only 1/8 early onset epilepsy deaths was seizure-related, mortality appears to be more affected by underlying etiology. PMID:23582606

  5. Neural abnormalities in early-onset and adolescence-onset conduct disorder.

    PubMed

    Passamonti, Luca; Fairchild, Graeme; Goodyer, Ian M; Hurford, Georgina; Hagan, Cindy C; Rowe, James B; Calder, Andrew J

    2010-07-01

    Conduct disorder (CD) is characterized by severe antisocial behavior that emerges in childhood (early-onset CD [EO-CD]) or adolescence (adolescence-onset CD [AO-CD]). Early-onset CD is proposed to have a neurodevelopmental basis, whereas AO-CD is thought to emerge owing to social mimicry of deviant peers. However, this developmental taxonomic theory is debated after reports of neuropsychological impairments in both CD subtypes. A critical, although unaddressed, issue is whether these subtypes present similar or distinct neurophysiological profiles. Hence, we investigated neurophysiological responses to emotional and neutral faces in regions associated with antisocial behavior (ie, the amygdala, ventromedial prefrontal cortex, insula, and orbitofrontal cortex) in individuals with EO-CD and AO-CD and in healthy control subjects. To investigate whether EO-CD and AO-CD subjects show neurophysiological abnormalities. Case-control study. Government research institute, university department. Seventy-five male adolescents and young adults aged 16 to 21 years, including 27 with EO-CD, 25 with AO-CD, and 23 healthy controls. Main Outcome Measure Neural activations measured by functional magnetic resonance imaging while participants viewed angry, sad, and neutral faces. Comparing angry vs neutral faces, participants with both CD subtypes displayed reduced responses in regions associated with antisocial behavior compared with controls; differences between the CD subtypes were not significant. Comparing each expression with fixation baseline revealed an abnormal (increased) amygdala response to neutral but not angry faces in both groups of CD relative to controls. For sad vs neutral faces, reduced amygdala activation was observed in EO-CD relative to AO-CD and control participants. Comparing each expression with fixation revealed hypoactive amygdala responses to sadness in individuals with EO-CD relative to AO-CD participants and controls. These findings were not accounted for

  6. Early-onset dementias: diagnostic and etiological considerations

    PubMed Central

    2013-01-01

    This paper summarizes the body of literature about early-onset dementia (EOD) that led to recommendations from the Fourth Canadian Consensus Conference on the Diagnosis and Treatment of Dementia. A broader differential diagnosis is required for EOD compared with late-onset dementia. Delays in diagnosis are common, and the social impact of EOD requires special care teams. The etiologies underlying EOD syndromes should take into account family history and comorbid diseases, such as cerebrovascular risk factors, that may influence the clinical presentation and age at onset. For example, although many EODs are more likely to have Mendelian genetic and/or metabolic causes, the presence of comorbidities may drive the individual at risk for late-onset dementia to manifest the symptoms at an earlier age, which contributes further to the observed heterogeneity and may confound diagnostic investigation. A personalized medicine approach to diagnosis should therefore be considered depending on the age at onset, clinical presentation, and comorbidities. Genetic counseling and testing as well as specialized biochemical screening are often required, especially in those under the age of 40 and in those with a family history of autosomal dominant or recessive disease. Novel treatments in the drug development pipeline for EOD, such as genetic forms of Alzheimer's disease, should target the specific pathogenic cascade implicated by the mutation or biochemical defect. PMID:24565469

  7. Early-Onset Physical Frailty in Adults with Diabesity and Peripheral Neuropathy.

    PubMed

    Tuttle, Lori J; Bittel, Daniel C; Bittel, Adam J; Sinacore, David R

    2017-12-07

    Diabesity (obesity and diabetes mellitus) has been identified as a potential contributor to early-onset frailty. Impairments contributing to early onset of physical frailty in this population are not well understood, and there is little evidence of the impact of peripheral neuropathy on frailty. The purpose of this study was to determine impairments that contribute to early-onset physical frailty in individuals with diabesity and peripheral neuropathy. We studied 105 participants, 82 with diabesity and peripheral neuropathy (57 years of age, body mass index [BMI] 31 kg/m 2 ); 13 with diabesity only (53 years of age, BMI 34 kg/m 2 ) and 10 obese controls (67 years of age, BMI 32 kg/m 2 ). Peripheral neuropathy was determined using Semmes Weinstein monofilaments; physical frailty was classified using the 9-item, modified Physical Performance Test; and knee extension and ankle plantarflexion peak torques were measured using isokinetic dynamometry. Participants with diabesity and peripheral neuropathy were 7.4 times more likely to be classified as physically frail. Impairments in lower-extremity function were associated with classification of frailty. Individuals with diabesity and peripheral neuropathy are particularly likely to be classified as frail. Earlier identification and interventions aimed at improving lower-extremity function may be important to mitigate the early-onset functional decline. Copyright © 2017 Diabetes Canada. Published by Elsevier Inc. All rights reserved.

  8. Serial Casting for Infantile Idiopathic Scoliosis: Radiographic Outcomes and Factors Associated With Response to Treatment.

    PubMed

    Iorio, Justin; Orlando, Giuseppe; Diefenbach, Chris; Gaughan, John P; Samdani, Amer F; Pahys, Joshua M; Betz, Randal R; Cahill, Patrick J

    Serial casting for early-onset scoliosis has been shown to improve curve deformity. Our goal was to define clinical and radiographic features that determine response to treatment. We retrospectively reviewed patients with idiopathic infantile scoliosis with a minimum of 2-year follow-up. Inclusion criteria were: progressive idiopathic infantile scoliosis and initial casting before 6 years of age. Two groups were analyzed and compared: group 1 (≥10-degree improvement in Cobb angle from baseline) and group 2 (no improvement). Twenty-one patients with an average Cobb angle of 48 degrees (range, 24 to 72 degrees) underwent initial casting at an average age of 2.1 years (range, 0.7 to 5.4 y). Average follow-up was 3.5 years (range, 2 to 6.9 y). Sex, age at initial casting, magnitude of spinal deformity, and curve flexibility (defined as change in Cobb angle from pretreatment to first in-cast radiograph) were not significantly different between groups (P>0.05). Group 1 had a significantly higher body mass index (BMI) than group 2 at the onset of treatment (17.6 vs. 14.8, P<0.05). Univariate analysis of demographic, radiographic, and treatment factors revealed that only BMI was predictive of Cobb improvement (P=0.04; odds ratio=2.38). Group 1 (n=15) had a significantly lower Cobb angle (21 vs. 56 degrees) and rib vertebral angle difference (13 vs. 25 degrees) compared with group 2 at latest follow-up (P<0.05). A significantly larger proportion of children who were casted at less than 1.8 years of age had a Cobb angle <20 degrees at latest follow-up (P=0.03). Group 2 maintained stable clinical and radiograph parameters from pretreatment to most recent follow-up. To maintain a homogeneous cohort, we excluded patients with syndromes and developmental delays. We believe that analyzing a homogeneous group provides more meaningful results than if we studied a heterogeneous sample. BMI was significantly associated with outcome such that for each unit increase in BMI, there is

  9. The impact of early-onset cannabis use on functional brain correlates of working memory.

    PubMed

    Becker, Benjamin; Wagner, Daniel; Gouzoulis-Mayfrank, Euphrosyne; Spuentrup, Elmar; Daumann, Jörg

    2010-08-16

    Cannabis is the most commonly used illicit drug. Prevalence rates are particularly high among adolescents. Neuropsychological studies have identified cannabis-associated memory deficits, particularly linked to an early onset of use. However, it remains unclear, whether the age of onset accounts for altered cortical activation patterns usually observed in cannabis users. Functional magnetic resonance imaging was used to examine cortical activation during verbal working memory challenge in (1) early-onset (onset before the age of sixteen; n=26) and (2) late-onset cannabis users (age at onset at least sixteen; n=17). Early-onset users showed increased activation in the left superior parietal lobe. Correlational analyses confirmed the association between an earlier start of use and increased activity. Contrariwise neither cumulative dose, frequency nor time since last use was significantly associated with cortical activity. Our findings suggest that an early start of cannabis use is associated with increased cortical activation in adult cannabis users, possibly reflecting suboptimal cortical efficiency during cognitive challenge. The maturing brain might be more vulnerable to the harmful effects of cannabis use. However, due to a lack of a non-using control group we cannot exclude alternative interpretations. Copyright (c) 2010 Elsevier Inc. All rights reserved.

  10. A multicenter study analyzing the relationship of a standardized radiographic scoring system of adolescent idiopathic scoliosis and the Scoliosis Research Society outcomes instrument.

    PubMed

    Wilson, Philip L; Newton, Peter O; Wenger, Dennis R; Haher, Thomas; Merola, Andrew; Lenke, Larry; Lowe, Thomas; Clements, David; Betz, Randy

    2002-09-15

    A multicenter study examining the association between radiographic and outcomes measures in adolescent idiopathic scoliosis. To evaluate the association between an objective radiographic scoring system and patient quality of life measures as determined by the Scoliosis Research Society outcomes instrument. Although surgical correction of scoliosis has been reported to be positively correlated with patient outcomes, studies to date have been unable to demonstrate an association between radiographic measures of deformity and outcomes measures in patients with adolescent idiopathic scoliosis. A standardized radiographic deformity scoring system and the Scoliosis Research Society outcome tool were used prospectively in seven scoliosis centers to collect data on patients with adolescent idiopathic scoliosis. A total of 354 data points for 265 patients consisting of those with nonoperative or preoperative curves >or=10 degrees, as well as those with surgically treated curves, were analyzed. Correlation analysis was performed to identify significant relationships between any of the radiographic measures, the Harms Study Group radiographic deformity scores (total, sagittal, coronal), and the seven Scoliosis Research Society outcome domains (Total Pain, General Self-Image, General Function, Activity, Postoperative Self-Image, Postoperative Function, and Satisfaction) as well as Scoliosis Research Society outcomes instrument total scores. Radiographic measures that were identified as significantly correlated with Scoliosis Research Society outcome scores were then entered into a stepwise regression analysis. The coronal measures of thoracic curve and lumbar curve magnitude were found to be significantly correlated with the Total Pain, General Self-Image, and total Scoliosis Research Society scores (P < 0.0001). The thoracic and upper thoracic curve magnitudes were also correlated with General Function (P < 0.002). The "coronal" subscore as well as the "total" score of the

  11. Treatment of early-onset schizophrenia spectrum disorders (TEOSS): rationale, design, and methods.

    PubMed

    McClellan, Jon; Sikich, Linmarie; Findling, Robert L; Frazier, Jean A; Vitiello, Benedetto; Hlastala, Stefanie A; Williams, Emily; Ambler, Denisse; Hunt-Harrison, Tyehimba; Maloney, Ann E; Ritz, Louise; Anderson, Robert; Hamer, Robert M; Lieberman, Jeffrey A

    2007-08-01

    The Treatment of Early Onset Schizophrenia Spectrum Disorders Study is a publicly funded clinical trial designed to compare the therapeutic benefits, safety, and tolerability of risperidone, olanzapine, and molindone in youths with early-onset schizophrenia spectrum disorders. The rationale, design, and methods of the Treatment of Early Onset Schizophrenia Spectrum Disorders Study are described. Using a randomized, double-blind, parallel-group design at four sites, youths with EOSS (ages 8-19 years) were assigned to an 8-week acute trial of risperidone (0.5-6.0 mg/day), olanzapine (2.5-20 mg/day), or molindone (10-140 mg/day). Responders continued double-blind treatment for 44 weeks. The primary outcome measure was responder status at 8 weeks, defined by a 20% reduction in baseline Positive and Negative Symptom Scale scores plus ratings of significant improvement on the Clinical Global Impressions. Secondary outcome measures included assessments of psychopathology, functional impairment, quality of life, and medication safety. An intent-to-treat analytic plan was used. From February 2002 to May 2006, 476 youths were screened, 173 were further evaluated, and 119 were randomized. Several significant study modifications were required to address safety, the use of adjunctive medications, and the termination of the olanzapine treatment arm due to weight gain. The Treatment of Early Onset Schizophrenia Spectrum Disorders Study will inform clinical practice regarding the use of antipsychotic medications for youths with early-onset schizophrenia spectrum disorders. Important safety concerns emerged during the study, including higher than anticipated rates of suicidality and problems tapering thymoleptic agents before randomization.

  12. Distinct breast cancer subtypes in women with early-onset disease across races

    PubMed Central

    Singh, Mandeep; Ding, Yi; Zhang, Li-Ying; Song, Dong; Gong, Yun; Adams, Sylvia; Ross, Dara S; Wang, Jin-Hua; Grover, Shruti; Doval, Dinesh Chandra; Shao, Charles; He, Zi-Li; Chang, Victor; Chin, Warren W; Deng, Fang-Ming; Singh, Baljit; Zhang, David; Xu, Ru-Liang; Lee, Peng

    2014-01-01

    Background: Racial disparities among breast cancer (BCa) patients are known but not well studied in early-onset BCa. We analyzed molecular subtypes in early-onset BCa across five major races. Methods: A total of 2120 cases were included from non-Hispanic White (NHW), African American (AA) and Hispanic, Chinese and Indian. Based on ER, PR and HER-2 status, BCa was classified into 4 intrinsic subtypes as Luminal A, Luminal B, HER2/neu overexpression and Triple negative BCa (TNBC) subtypes. Data was stratified according to race and age as younger/early-onset group (40-years and younger) and older group (50-years and older). Results: In early-onset BCa, incidence of TNBC was significantly higher (p = 0.0369) in Indian women followed by AA, Hispanic, NHW and Chinese women. Incidence of Her2 over-expression subtype also was highest in Indian women, followed by Hispanic, Chinese, AA and NHW women. In contrast, Luminal B subtype was most significantly higher in AA women (p = 0.0000) followed by NHW (p = 0.0002), Chinese (p = 0.0003), Hispanic (0.0128) and Indian (p = 0.0468) women. Luminal A subtype was most significantly reduced in Indian women (p = 0.0113) followed by Hispanic, AA, NHW and Chinese women. These results were based on statistical analysis with the mean of older group populations. Conclusions: These results show significant disparities in receptor subtypes across races. This study will contribute in developing optimal clinical trial protocols and personalized management strategies for early-onset BCa patients. PMID:25057437

  13. Screening and Treatment for Early-Onset Gestational Diabetes Mellitus: a Systematic Review and Meta-analysis.

    PubMed

    Immanuel, Jincy; Simmons, David

    2017-10-02

    We conducted a systematic review to evaluate the current evidence for screening and treatment for early-onset gestational diabetes mellitus (GDM) RECENT FINDINGS: Many of the women with early GDM in the first trimester do not have evidence of hyperglycemia at 24-28 weeks' gestation. A high proportion (15-70%) of women with GDM can be detected early in pregnancy depending on the setting, criteria used and screening strategy. However, there remains no good evidence for any of the diagnostic criteria for early-onset GDM. In a meta-analysis of 13 cohort studies, perinatal mortality (relative risk (RR) 3.58 [1.91, 6.71]), neonatal hypoglycemia (RR 1.61 [1.02, 2.55]), and insulin use (RR 1.71 [1.45, 2.03]) were greater among early-onset GDM women compared to late-onset GDM women, despite treatment. Considering the high likelihood of benefit from treatment, there is an urgent need for randomized controlled trials that investigate any benefits and possible harms of treatment of early-onset GDM.

  14. Mental Health of Adults Treated in Adolescence with Scoliosis-Specific Exercise Program or Observed for Idiopathic Scoliosis

    PubMed Central

    Płaszewski, Maciej; Cieśliński, Igor; Nowobilski, Roman; Kotwicki, Tomasz; Terech, Jacek; Furgał, Mariusz

    2014-01-01

    Objective. To examine general mental health in adult males and females, who in adolescence participated in a scoliosis-specific therapeutic exercise program or were under observation due to diagnosis of scoliosis. Design. Registry-based, cross-sectional study with retrospective data collection. Methods. Sixty-eight subjects (43 women) aged 30.10 (25–39) years, with mild or moderate scoliosis (11–36° Cobb angle), and 76 (38 women) nonscoliotic subjects, aged 30.11 (24–38) years, participated. The time period since the end of the exercise or observation regimes was 16.5 (12-26) years. Beck Depression Inventory (BDI) and General Health Questionnaire (GHQ-28) scores were analyzed with the χ 2 and U tests. Multiple regression analyses for confounders were also performed. Results. Intergroup differences of demographic characteristics were nonsignificant. Scoliosis, gender, participation in the exercise program, employment, and marital status were associated with BDI scores. The presence of scoliosis and participation in the exercise program manifested association with the symptoms. Higher GHQ-28 “somatic symptoms” subscale scores interacted with the education level. Conclusions. Our findings correspond to the reports of a negative impact of the diagnosis of scoliosis and treatment on mental health. The decision to introduce a therapeutic program in children with mild deformities should be made with judgment of potential benefits, risks, and harm. PMID:24574935

  15. Richard's back: death, scoliosis and myth making.

    PubMed

    Lund, Mary Ann

    2015-12-01

    The body of a mediaeval monarch was always under scrutiny, and Richard III's was no exception. In death, however, his body became subject to new forms of examination and interpretation: stripped naked after the battle of Bosworth, his corpse was carried to Leicester and exhibited before being buried. In 2012, it was rediscovered. The revelation that Richard suffered from scoliosis prompts this article to re-evaluate the historical sources about Richard's physique and his posthumous reputation. This article argues that Richard's death and his myth as 'crookback' are inextricably linked and traces attitudes to spinal curvature in the early modern period. It also considers how Shakespeare represented Richard as deformed, and aspects of performance history which suggest physical vulnerability. It then considers Richard's scoliosis from the perspective of medical history, reviewing classical accounts of scoliosis and arguing that Richard was probably treated with a mixture of axial traction and pressure. It demonstrates from the evidence of Richard's medical household that he was well placed to receive hands-on therapies and considers in particular the role of his physician and surgeon, William Hobbes. Finally, it shows how the case of Richard III demonstrates the close relationship between politics and medicine in the period and the contorted process of historical myth making. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  16. Scoliosis after pectus excavatum correction: does it improve or worsen?

    PubMed

    Chung, Jae Ho; Park, Hyung Joo; Kim, Kwang Taik

    2017-07-01

    Scoliosis is associated with pectus excavatum. However, the change in the degree of scoliosis after pectus excavatum correction has not been clarified. This study examined how the correction of pectus excavatum influences the status of pre-existing scoliosis. A total of 779 pectus excavatum patients operated between 2007 and 2011 using the pectus bar were retrospectively analysed. Preoperative severity and postoperative change of scoliosis in accordance with the severity of pectus excavatum were evaluated. Cobb angle, Haller index and sternal tilt degree were measured from pre- and postoperative whole-spine anteroposterior radiographs and chest computed tomography. Sixty-three (8%) patients had scoliosis (Cobb angle >10°). No significant correlation was noted between postoperative changes in Cobb angle, Haller index or sternal tilt angle. Preoperative severity of scoliosis showed a positive correlation with postoperative changes in Cobb angle ( r  = 0.527, P  < 0.001). In analyses between groups with mild and moderate scoliosis (Cobb angle <15° and >15°, respectively), the mean postoperative Cobb angle was decreased in mild scoliosis (-2.88°) but was increased in moderate scoliosis (3.86°; P  < 0.001). Regarding the 'improvement' and 'aggravation' of scoliosis after pectus correction, preoperative severity of scoliosis was the only significant factor in univariable and multivariable analysis. Pectus excavatum repair using a pectus bar may improve scoliosis, but when the preoperative Cobb angle exceeds 15°, scoliosis may be aggravated. Therefore, pectus excavatum with concomitant moderate scoliosis requires extra caution during repair. This preliminary result suggests further investigation into the effect of chest cage remodelling on spine dynamics. © The Author 2017. Published by Oxford University Press on behalf of the European Association for Cardio-Thoracic Surgery. All rights reserved.

  17. Brain Structure Changes Visualized in Early- and Late-Onset Blind Subjects

    PubMed Central

    Leporé, Natasha; Voss, Patrice; Lepore, Franco; Chou, Yi-Yu; Fortin, Madeleine; Gougoux, Frédéric; Lee, Agatha D.; Brun, Caroline; Lassonde, Maryse; Madsen, Sarah K.; Toga, Arthur W.; Thompson, Paul M.

    2009-01-01

    We examine 3D patterns of volume differences in the brain associated with blindness, in subjects grouped according to early and late onset. Using tensor-based morphometry, we map volume reductions and gains in 16 early-onset (EB) and 16 late-onset (LB) blind adults (onset <5 and >14 years old, respectively) relative to 16 matched sighted controls. Each subject’s structural MRI was fluidly registered to a common template. Anatomical differences between groups were mapped based on statistical analysis of the resulting deformation fields revealing profound deficits in primary and secondary visual cortices for both blind groups. Regions outside the occipital lobe showed significant hypertrophy, suggesting widespread compensatory adaptations. EBs but not LBs showed deficits in the splenium and hypertrophy in the isthmus. Gains in the isthmus and non-occipital white matter were more widespread in the EBs. These differences may reflect regional alterations in late neurodevelopmental processes, such as myelination, that continue into adulthood. PMID:19643183

  18. Distinct 18F-AV-1451 tau PET retention patterns in early- and late-onset Alzheimer's disease.

    PubMed

    Schöll, Michael; Ossenkoppele, Rik; Strandberg, Olof; Palmqvist, Sebastian; Jögi, Jonas; Ohlsson, Tomas; Smith, Ruben; Hansson, Oskar

    2017-09-01

    Patients with Alzheimer's disease can present with different clinical phenotypes. Individuals with late-onset Alzheimer's disease (>65 years) typically present with medial temporal lobe neurodegeneration and predominantly amnestic symptomatology, while patients with early-onset Alzheimer's disease (<65 years) exhibit greater neocortical involvement associated with a clinical presentation including dyspraxia, executive dysfunction, or visuospatial impairment. We recruited 20 patients with early-onset Alzheimer's disease, 21 with late-onset Alzheimer's disease, three with prodromal early-onset Alzheimer's disease and 13 with prodromal late-onset Alzheimer's disease, as well as 30 cognitively healthy elderly controls, that had undergone 18F-AV-1451 tau positron emission tomography and structural magnetic resonance imaging to explore whether early- and late-onset Alzheimer's disease exhibit differential regional tau pathology and atrophy patterns. Strong associations of lower age at symptom onset with higher 18F-AV-1451 uptake were observed in several neocortical regions, while higher age did not yield positive associations in neither patient group. Comparing patients with early-onset Alzheimer's disease with controls resulted in significantly higher 18F-AV-1451 retention throughout the neocortex, while comparing healthy controls with late-onset Alzheimer's disease patients yielded a distinct pattern of higher 18F-AV-1451 retention, predominantly confined to temporal lobe regions. When compared against each other, the early-onset Alzheimer's disease group exhibited greater uptake than the late-onset group in prefrontal and premotor, as well as in inferior parietal cortex. These preliminary findings indicate that age may constitute an important contributor to Alzheimer's disease heterogeneity highlighting the potential of tau positron emission tomography to capture phenotypic variation across patients with Alzheimer's disease. © The Author (2017). Published by Oxford

  19. Neurocognition in Early-Onset Schizophrenia and Schizoaffective Disorders

    ERIC Educational Resources Information Center

    Hooper, Stephen R.; Giuliano, Anthony J.; Youngstrom, Eric A.; Breiger, David; Sikich, Linmarie; Frazier, Jean A.; Findling, Robert L.; McClellan, Jon; Hamer, Robert M.; Vitiello, Benedetto; Lieberman, Jeffrey A.

    2010-01-01

    Objective: We examined the neuropsychological functioning of youth enrolled in the NIMH funded trial, Treatment of Early-Onset Schizophrenia Spectrum Disorders (TEOSS). We compared the baseline neuropsychological functioning of youth with schizophrenia (SZ, n = 79) to those with schizoaffective disorder (SA, n = 40), and examined the relationship…

  20. Scoliosis and dental occlusion: a review of the literature

    PubMed Central

    2011-01-01

    Background Idiopathic scoliosis is a deformity without clear etiology. It is unclear wether there is an association between malocclusion and scoliosis. Several types of occlusion were described in subjects with scoliosis, mostly case-reports. Objectives The aim of this review was to evaluate the type of occluslins more prevalent in subjects with scoliosis Search strategy All randomised and controlled clinical trials identified from the Cochrane Oral Health Group Trials Register, a MEDLINE search using the Mesh term scoliosis, malocclusion, and relevant free text words, and the bibliographies of papers and review articles which reported the outcome of orthodontic treatment in subjects with scoliosis that were published as abstracts or papers between 1970 and 2010. Selection criteria All randomised and controlled clinical trials published as full papers or abstracts which reported quantitative data on the outcomes malocclusion in subjects with scoliosis. Data collection and analysis Data were extracted without blinding to the authors, age of patients or type of occlusion. Main results Using the search strategy eleven observational longitudinal studies were identified. No randomized clinical trials were recorded. Twenty-three cross-sectional studies were recorderd, and the others studies were reviews, editorials, case-reports, or opinions. The clinical trials were often not controlled and were about the cephalometric evaluation after treatment with the modified Milwuakee brace, followed by the orthodontic treatment of the class II relationship with a functional appliance. Clinical trials also included the study of the associations between scoliosis and unilateral crossbite, in children with asymmetry of the upper cervical spine. This association was also investigated in rats, pigs and rabbits in clinical trials. The other associations between scoliosis and occlusion seems to be based only on cross-sectional studies, case-reports, opinions. Authors' conclusions Based

  1. Etiological Theories of Adolescent Idiopathic Scoliosis: Past and Present

    PubMed Central

    Fadzan, Maja; Bettany-Saltikov, Josette

    2017-01-01

    Adolescent idiopathic scoliosis is one of the most common spinal deformities, yet its cause is unknown. Various theories look to biomechanical, neuromuscular, genetic, and environmental origins, yet our understanding of scoliosis etiology is still limited. Determining the cause of a disease is crucial to developing the most effective treatment. Associations made with scoliosis do not necessarily point to causality, and it is difficult to determine whether said associations are primary (playing a role in development) or secondary (develop as a result of scoliosis). Scoliosis is a complex condition with highly variable expression, even among family members, and likely has many causes. These causes could be similar among homogenous groups of AIS patients, or they could be individual. Here, we review the most prevalent theories of scoliosis etiology and recent trends in research. PMID:29399224

  2. Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome.

    PubMed

    Mangatt, Meghana; Wong, Kingsley; Anderson, Barbara; Epstein, Amy; Hodgetts, Stuart; Leonard, Helen; Downs, Jenny

    2016-04-14

    Initially described as an early onset seizure variant of Rett syndrome, the CDKL5 disorder is now considered as an independent entity. However, little is currently known about the full spectrum of comorbidities that affect these patients and available literature is limited to small case series. This study aimed to use a large international sample to examine the prevalence in this disorder of comorbidities of epilepsy, gastrointestinal problems including feeding difficulties, sleep and respiratory problems and scoliosis and their relationships with age and genotype. Prevalence and onset were also compared with those occurring in Rett syndrome. Data for the CDKL5 disorder and Rett syndrome were sourced from the International CDKL5 Disorder Database (ICDD), InterRett and the Australian Rett syndrome Database (ARSD). Logistic regression (multivariate and univariate) was used to analyse the relationships between age group, mutation type and the prevalence of various comorbidities. Binary longitudinal data from the ARSD and the equivalent cross-sectional data from ICDD were examined using generalized linear models with generalized estimating equations. The Kaplan-Meier method was used to estimate the failure function for the two disorders and the log-rank test was used to compare the two functions. The likelihood of experiencing epilepsy, GI problems, respiratory problems, and scoliosis in the CDKL5 disorder increased with age and males were more vulnerable to respiratory and sleep problems than females. We did not identify any statistically significant relationships between mutation group and prevalence of comorbidities. Epilepsy, GI problems and sleep abnormalities were more common in the CDKL5 disorder than in Rett syndrome whilst scoliosis and respiratory problems were less prevalent. This study captured a much clearer picture of the CDKL5 disorder than previously possible using the largest sample available to date. There were differences in the presentation of

  3. ASSESSMENT OF OXIDATIVE STRESS IN EARLY AND LATE ONSET PRE-ECLAMPSIA AMONG GHANAIAN WOMEN.

    PubMed

    Tetteh, P W; Adu-Bonsaffoh, K; Antwi-Boasiako, C; Antwi, D A; Gyan, B; Obed, S A

    2015-01-01

    Pre-eclampsia is a multisystem pregnancy-related disorder with multiple theories regarding its aetiology resulting in lack of reliable screening tests and well-established measures for primary prevention. However, oxidative stress is increasingly being implicated in the pathogenesi of pre-eclampsia although conflicting findings have been reported. To determine and compare the levels of oxidative stress in early and late onset pre-eclampsia by measuring urinary excretion of isoprostane and total antioxidant power (TAP) in a cohort of pre-eclamptic women at Korle Bu Teaching Hospital. This was a cross-sectional study conducted at Korle-Bu Teaching Hospital, Accra, Ghana involving pre-eclamptic women between the ages 18 and 45 years who gave written informed consent. Urinary isoprostane levels were determined using an enzyme-linked immunosorbent assay (ELISA) kit whereas the Total Anti-oxidant Power in urine samples was determined using Total Antioxidant Power Colorimetric Microplate Assay kit. The data obtained were analyzed using MEGASTAT statistical software package. We included 102 pre-eclamptic women comprising 68 (66.7%) and 34 (33.3%) with early-onset and late-onset pre-eclampsia respectively. There were no statistically significant differences between the mean maternal age, haematological indices, serum ALT, AST, ALT, albumin, urea, creatinine uric acid and total protein at the time of diagnosis. The mean gestational age at diagnosis of early and late onset pre-eclampsia were 31.65 ± 0.41 and 38.03 ± 0.21 respectively (p ˂ 0.001). Also, there were statistically significant differences between the diastolic blood pressure (BP), systolic BP and mean arterial pressure (MAP) at diagnosis of pre-eclampsia in the two categories. The mean urinary Isoprostane excretion was significantly higher in the early onset pre-eclamptic group (3.04 ± 0.34 ng/mg Cr) compared to that of the late onset pre-eclamptic group (2.36 ± 0.45 ng/mg Cr), (p=0.019). Urinary total

  4. Serum levels of GDF15 are reduced in preeclampsia and the reduction is more profound in late-onset than early-onset cases.

    PubMed

    Chen, Qi; Wang, Yao; Zhao, Min; Hyett, Jonathan; da Silva Costa, Fabricio; Nie, Guiying

    2016-07-01

    Preeclampsia is a pregnancy specific disorder affecting 3-5% of pregnancies worldwide. It is clinically divided into early-onset and late-onset subtypes. Placental factors are involved in the pathogenesis of preeclampsia. Growth differentiation factor 15 (GDF15), a protein of the transforming growth factor beta superfamily, is highly expressed in the placenta. However, it is unclear whether the circulating levels of GDF15 are altered in preeclampsia at the time of or prior to disease presentation. Serum samples across three trimesters from 29 healthy pregnancies, third trimester sera from 34 women presenting with preeclampsia (early-onset n=16, late-onset n=18) and 66 gestation-age-matched controls, and sera at 11-13weeks of pregnancy from women who later did (n=36) or did not (n=33) develop late-onset preeclampsia, were examined for GDF15 by ELISA. Serum GDF15 levels increased significantly with gestation in normal pregnancy. Serum GDF15 was significantly reduced in the third trimester in women presenting with preeclampsia compared to their gestation-age-matched controls. This reduction was apparent in both early-onset and late-onset subtypes, but it was more profound in late-onset cases. At 11-13weeks of gestation, however, serum levels of GDF15 were similar between women who subsequently did and did not develop late-onset preeclampsia. Serum GDF15 increased with gestation age, reaching the highest level in the third trimester. Serum GDF15 was significantly reduced in the third trimester in women presenting with preeclampsia, especially in late-onset cases. However, serum GDF15 was not altered in the first trimester in women destined to develop late-onset preeclampsia. Copyright © 2016 Elsevier Ltd. All rights reserved.

  5. Indoor tanning and risk of early-onset basal cell carcinoma

    PubMed Central

    Ferrucci, Leah M.; Cartmel, Brenda; Molinaro, Annette M.; Leffell, David J.; Bale, Allen E.; Mayne, Susan T.

    2011-01-01

    Background Despite a rise in incidence of basal cell carcinoma (BCC) among young people and the ubiquity of indoor tanning in this population, few epidemiologic studies have investigated this exposure-disease relationship. Objective Evaluate the association between indoor tanning and early-onset BCC. Methods BCC cases (n=376) and controls with minor benign skin conditions (n=390) under age 40 were identified through Yale Dermatopathology. Participants provided information on ever indoor tanning, age of initiation, frequency, duration, burns while tanning, and type of tanning device during an in-person interview. We calculated odds ratios (OR) and 95% confidence intervals (CI) using multivariate logistic regression with never indoor tanners as the referent group. Results Ever indoor tanning was associated with a 69% increased risk of early-onset BCC (95% CI=1.15-2.48). This association was stronger among women (OR=2.14, 95% CI=1.31-3.47), for multiple BCCs (OR=2.16, 95% CI=1.26-3.70), and for BCCs on the trunk and extremities (OR=2.81, 95% CI=1.57-5.02). Risk increased dose-dependently with years used regular indoor tanning devices (p-trend=0.003), number of overall burns (p-trend=<0.001) and burns to biopsy site (p-trend=<0.001) from indoor tanning. Approximately one-quarter (27%) of early-onset BCCs (or 43% among women) could be prevented if individuals never tanned indoors. Limitations Potential recall bias of indoor tanning by cases and generalizability of the control population suggest replication in other studies is warranted. Conclusions Indoor tanning was a strong risk factor for early-onset BCC, particularly among women. Indoor tanning should continue to be targeted by both policy-based and behavioral interventions, as the impact on BCC-associated morbidity may be substantial. PMID:22153793

  6. Early Onset Diabetes - Genetic And Hormonal Analysis In Pakistani Population.

    PubMed

    Wahid, Maryam; Kamran, Mohammad

    2016-01-01

    Mitochondrial DNA mutation and hormonal imbalance is involved in the pathogenesis of early onset diabetes but data is lacking in Pakistani population. The study was planned to delineate the clinical presentation of early onset diabetes with possible hormonal and genetic etiological factors and aascertain the possible etiological role of insulin and glucagon in these patients either on oral hypoglycaemic or subcutaneous insulin therapy. Retrospective, analytical case control study with conventional sampling technique carried at Centre for Research in Experimental and Applied Medicine (CREAM) affiliated with the department of Biochemistry and Molecular Biology, Army Medical College Rawalpindi from Dec 2006 to July 2011. Study included the patients (20-35 years of age) with early onset diabetes on oral hypoglycemic (n=240), insulin therapy (n=280), and compared with non-diabetic healthy controls (n=150). A fragment surrounding tRNALeu (UUR) gene was amplified by AmpliTaq from mtDNA which was extracted from peripheral blood leucocytes. Then it was subjected to restriction endonucleases, ApaI for A3242G mutation and HaeIII for G3316A mutation detection. Plasma glucose, glycosylated Hb, osmolality, insulin and glucagon levels along with ABGs analysis was also done. Non diabetic controls comprised of 51% males and 49% females, diabetics on oral hypoglycemic 60% males and 40 % females and on insulin therapy 54% males and 46% females. Insulin dependent diabetics had statistically significant hyperglucagonemia, acidemia and bicarbonate deficit. MtDNA A3242G and G3316A mutations were not detected. relative hyperglucagonemia and acidemia in Insulin dependent diabetics was a potent threat leading to DKA. The absence of two mtDNA mutations in ND1 gene rules out the possibility of involvement of these mutations in early onset diabetes in Pakistani population.

  7. Does theory of mind performance differ in children with early-onset and regressive autism?

    PubMed

    Matthews, Nicole L; Goldberg, Wendy A; Lukowski, Angela F; Osann, Kathryn; Abdullah, Maryam M; Ly, Agnes R; Thorsen, Kara; Spence, M Anne

    2012-01-01

    A deficit in theory of mind (ToM), or the ability to infer the mental states of others, has been implicated as one of the major characteristics of Autism Spectrum Disorder (ASD); however, little attention has been devoted to possible differences in ToM ability within ASD. The current study examined ToM performance in children with early-onset autism and regressive autism in comparison to typically developing children. Results indicated that children in the regressive autism group performed significantly better than the early-onset autism group on the non-verbal appearance-reality task. Additionally, Fisher's exact tests indicated a pattern of lowest scores in the early-onset group and highest scores in the typically developing group, whereas the regressive autism group tended to score in between the early-onset and typically developing groups. The apparent heterogeneity in ToM performance within ASD could account for the lack of universality in ToM ability found in previous studies. © 2011 Blackwell Publishing Ltd.

  8. Scoliosis in myelomeningocele: epidemiology, management, and functional outcome.

    PubMed

    Mummareddy, Nishit; Dewan, Michael C; Mercier, Michael R; Naftel, Robert P; Wellons, John C; Bonfield, Christopher M

    2017-07-01

    OBJECTIVE The authors aimed to provide an updated and consolidated report on the epidemiology, management, and functional outcome of cases of myelomeningocele (MMC) in patients with scoliosis. METHODS A comprehensive literature search was performed using MEDLINE, Embase, Google Scholar, and the Cochrane Database of Systematic Reviews on cases of MMC in patients with scoliosis between 1980 and 2016. The initial search yielded 670 reports. After removing duplicates and applying inclusion criteria, we included 32 full-text original articles in this study. RESULTS Pooled statistical analysis of the included articles revealed the prevalence of scoliosis in MMC patients to be 53% (95% CI 0.42-0.64). Slightly more females (56%) are affected with both MMC and scoliosis than males. Motor level appears to be a significant predictor of prevalence, but not severity, of scoliosis in MMC patients. Treatment options for these patients include tethered cord release (TCR) and fusion surgeries. Curvature improvement and stabilization after TCR may be limited to patients with milder (< 50°) curves. Meanwhile, more aggressive fusion procedures such as a combined anterior-posterior approach may result in more favorable long-term scoliosis correction, albeit with greater complication rates. Quality of life metrics including ambulatory status and sitting stability are influenced by motor level of the lesion as well as the degree of the scoliosis curvature. CONCLUSIONS Scoliosis is among the most common and challenging comorbidities from which patients with MMC suffer. Although important epidemiological and management trends are evident, larger, prospective studies are needed to discover ways to more accurately counsel and more optimally treat these patients.

  9. Horizontal gaze palsy and progressive scoliosis in a patient with congenital esotropia and inability to abduct. A case report.

    PubMed

    Fernández-Vega Cueto, A; Rodríguez-Ezcurra, J J; Rodríguez-Maiztegui, I

    2016-12-01

    The case is presented on a 4- year-old child with congenital esotropia, limitation of abduction, cross-fixation, and thoracolumbar scoliosis. Genetic testing of ROBO3 gene confirmed the diagnosis of horizontal gaze palsy and scoliosis (HGPSS) DISCUSSION: HGPPS is a rare congenital disorder characterised by absence of conjugate horizontal eye movements and progressive scoliosis developed in childhood and adolescence. We highlight this motility disorder as a part of the differential diagnosis of early childhood esotropia with cross- fixation and limitation of abduction. Copyright © 2016 Sociedad Española de Oftalmología. Publicado por Elsevier España, S.L.U. All rights reserved.

  10. Isolated early onset anemia after rh isoimmunization: a unique presentation in 3 neonates.

    PubMed

    Louis, Deepak; Oberoi, Sapna; Sundaram, Venkataseshan; Trehan, Amita

    2010-08-01

    Rh isoimmunization manifesting as isolated early onset neonatal anemia has not been reported. We describe the presentation of 3 infants who manifested with isolated early severe anemia. All the infants presented early (3 to 7 d of age) with severe pallor. None had clinically significant jaundice. Evidence for hemolysis was present in all and their direct antiglobulin test was positive. To reduce the hemolysis, immunoglobulin was administered after which their hemoglobin improved. This report highlights the possibility of early onset anemia without significant jaundice as the sole manifestation of Rh isoimmunization and the possible beneficial role of immunoglobulin in them.

  11. Variants of early-onset restrictive eating disturbances in middle childhood.

    PubMed

    Kurz, Susanne; van Dyck, Zoé; Dremmel, Daniela; Munsch, Simone; Hilbert, Anja

    2016-01-01

    This study sought to determine the factor structure of the newly developed self-report screening questionnaire Eating Disturbances in Youth-Questionnaire (EDY-Q) as well as to report the distribution of variants of early-onset restrictive eating disturbances characteristic of avoidant/restrictive food intake disorder (ARFID) in a middle childhood population sample. Using the EDY-Q, a total of 1,444 children aged 8-13 years were screened in elementary schools in Switzerland via self-report. The factor analysis of the 12 items covering ARFID related symptoms was performed using a principal component analysis (PCA). The PCA showed a four factor solution, with clear allocation to the scales covering three variants of early-onset restrictive eating disturbances and weight problems. Inadequate overall food intake was reported by 19.3% of the children, a limited accepted amount of food by 26.1%, and food avoidance based on a specific underlying fear by 5.0%. The postulated factor structure of the EDY-Q was confirmed, further supporting the existence of distinct variants of early-onset restrictive eating disturbances. Avoidant/restrictive eating behavior seems to be a common experience in middle childhood, but results have to be confirmed using validated interviews. © 2015 Wiley Periodicals, Inc.

  12. Different Alterations of Cerebral Regional Homogeneity in Early-Onset and Late-Onset Parkinson's Disease

    PubMed Central

    Sheng, Ke; Fang, Weidong; Zhu, Yingcheng; Shuai, Guangying; Zou, Dezhi; Su, Meilan; Han, Yu; Cheng, Oumei

    2016-01-01

    HIGHLIGHTS Eighteen EOPD, 21 LOPD and 37 age-matched normal control subjects participated in the resting state fMRI scans.Age at onset of PD modulates the distribution of cerebral regional homogeneity during resting state.Disproportionate putamen alterations are more prominent in PD patients with a younger age of onset. Objective: Early-onset Parkinson's disease (EOPD) is distinct from late-onset PD (LOPD) as it relates to the clinical profile and response to medication. The objective of current paper is to investigate whether characteristics of spontaneous brain activity in the resting state are associated with the age of disease onset. Methods: We assessed the correlation between neural activity and age-at-onset in a sample of 39 PD patients (18 EOPD and 21 LOPD) and 37 age-matched normal control subjects. Regional homogeneity (ReHo) approaches were employed using ANOVA with two factors: PD and age. Results: In the comparisons between LOPD and EOPD, EOPD revealed lower ReHo values in the right putamen and higher ReHo values in the left superior frontal gyrus. Compared with age-matched control subjects, EOPD exhibited lower ReHo values in the right putamen and higher ReHo values in the left inferior temporal gyrus; However, LOPD showed lower ReHo values in the right putamen and left insula. The ReHo values were negatively correlated with the UPDRS total scores in the right putamen in LOPD, but a correlation between the ReHo value and UPDRS score was not detected in EOPD. Conclusions: Our findings support the notion that age at onset is associated with the distribution of cerebral regional homogeneity in the resting state and suggest that disproportionate putamen alterations are more prominent in patients with a younger age of onset. PMID:27462265

  13. CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy.

    PubMed

    Elia, M; Falco, M; Ferri, R; Spalletta, A; Bottitta, M; Calabrese, G; Carotenuto, M; Musumeci, S A; Lo Giudice, M; Fichera, M

    2008-09-23

    To search for CDKL5 gene mutations in boys presenting with severe early-onset encephalopathy and intractable epilepsy, a clinical picture very similar to that already described in girls with CDKL5 mutations. Eight boys (age range 3-16 years, mean age 8.5 years, SD 4.38) with severe or profound mental retardation and early-onset intractable seizures were selected for CDKL5 gene mutation screening by denaturing high-performance liquid chromatography analysis. We found three unrelated boys carrying three different missense mutations of the CDKL5 gene: c.872G>A (p.C291Y), c.863C>T (p.T288I), and c.533G>C (p.R178P). They presented early-onset, polymorphous, and drug-resistant seizures, mostly myoclonic and tonic or spasms. EEG showed epileptiform abnormalities which were multifocal during wakefulness, and pseudoperiodic bisynchronous during sleep. This study describes three boys carrying CDKL5 missense mutations and their detailed clinical and EEG data, and indicates that CDKL5 gene mutations may represent a cause of severe or profound mental retardation and early-onset intractable seizures, also in boys. Screening for CDKL5 mutations is strongly recommended in individuals with these clinical features.

  14. Stabilization in early adult-onset myopia with corneal refractive therapy.

    PubMed

    González-Méijome, José M; Carracedo, Gonzalo; Lopes-Ferreira, Daniela; Faria-Ribeiro, Miguel A; Peixoto-de-Matos, Sofia C; Queirós, António

    2016-02-01

    To describe the stabilization of early adult-onset myopia in three university students after initiating orthokeratology treatment with corneal refractive therapy contact lenses. Three Caucasian early adult-onset progressing myopic subjects (1 male, 2 females) were fitted with corneal refractive therapy lenses to correct myopia between -1.50 and -2.50 D of sphere using Paragon CRT (Paragon Vision Sciences, Mesa, AZ) lenses for overnight orthokeratology. The pre-treatment refractive history from 2005 as well as refraction and axial length after treatment onset are reported over a period of 3 years between December 2009 and January 2013 with an additional year of follow-up after treatment discontinuation (January-December 2013). The peripheral refractive patterns and topographic changes are also reported individually. Treatment was successful in all three subjects achieving uncorrected visual acuity of 20/20 or better monocularly. During a period of 3 years of follow-up the subjects did not experience progression in their refractive error, nor in their axial length (measured during the last 2 years of treatment and 1 year after discontinuation). Furthermore, the subjects recovered to their baseline refraction and did not progressed further over the following year after lens wear discontinuation. We cannot attribute a causative effect to the orthokeratology treatment alone as underlying mechanism for myopia stabilization in this 3 patients. However, the present report points to the possibility of stabilization of early adult-onset myopia progression in young adults using corneal refractive therapy treatment. Copyright © 2015 Elsevier Ltd. All rights reserved.

  15. Neuromuscular Scoliosis

    MedlinePlus

    ... degree of neuromuscular involvement. Diagnosis Incidence of Scoliosis Cerebral palsy (2 limbs involved) 25% Myelodysplasia (lower lumbar) 60% Spinal muscle atrophy 67% Friedreich ataxia 80% Cerebral palsy (4 limbs involved) 80% Duchenne muscular dystrophy 90% ...

  16. Global and Temporal Cortical Folding in Patients with Early-Onset Schizophrenia

    ERIC Educational Resources Information Center

    Penttila, Jani; Paillere-Martinot, Marie-Laure; Martinot, Jean-Luc; Mangin, Jean-Francois; Burke, Lisa; Corrigall, Richard; Frangou, Sophia; Cachia, Arnaud

    2008-01-01

    Disturbances in the temporal lobes and alterations in cortical folding in adult on-set schizophrenia are studied using magnetic resonance T1 images of 51 patients. The study showed that patients with early on-set schizophrenia had lower global sulcal indices in both hemispheres and the left collateral sulcus has a lower sulcal index irrespective…

  17. Atypical antipsychotics in the treatment of early-onset schizophrenia

    PubMed Central

    Hrdlicka, Michal; Dudova, Iva

    2015-01-01

    Atypical antipsychotics (AAPs) have been successfully used in early-onset schizophrenia (EOS). This review summarizes the randomized, double-blind, controlled studies of AAPs in EOS, including clozapine, risperidone, olanzapine, aripiprazole, paliperidone, quetiapine, and ziprasidone. No significant differences in efficacy between AAPs were found, with the exception of clozapine and ziprasidone. Clozapine demonstrated superior efficacy in treatment-resistant patients with EOS, whereas ziprasidone failed to demonstrate efficacy in the treatment of EOS. Our review also focuses on the onset of action and weight gain associated with AAPs. The data on onset of action of AAPs in pediatric psychiatry are scanty and inconsistent. Olanzapine appears to cause the most significant weight gain in patients with EOS, while ziprasidone and aripiprazole seem to cause the least. PMID:25897226

  18. The Level of Self-Esteem and Sexual Functioning in Women with Idiopathic Scoliosis: A Preliminary Study.

    PubMed

    Durmała, Jacek; Blicharska, Irmina; Drosdzol-Cop, Agnieszka; Skrzypulec-Plinta, Violetta

    2015-08-12

    A person's image, which is determined through physical appearance, considerably affects self-esteem developed from early childhood. Scoliosis causes multiple trunk deformations that can affect a person's perception of the body. The aim of the study was to analyze the impact of scoliosis dimension and the degree of trunk deformation on the level of self-esteem and sexual functioning in women with idiopathic scoliosis. Thirty-six women diagnosed with idiopathic scoliosis were recruited to a prospective, double-blind, randomized controlled trial. The subjects were divided into two groups depending on the value of the Cobb angle. The level of self-esteem was determined by means of the Rosenberg Self-Esteem Scale (SES), whereas the sexual functioning was assessed via the Female Sexual Function Index (FSFI). The trunk deformations were specified with the Posterior Trunk Symmetry Index (POTSI). A statistically significant correlation was proved between the amount of points received in the Rosenberg scale evaluation and the POTSI index in Group A (R = -0.56, p = 0.04). Subjects with smaller deformations within the coronal plane had a higher level of self-confidence. The trunk asymmetries in the coronal plane may have a negative effect on women with scoliosis and their self-appraisal.

  19. Early- versus late-onset obsessive-compulsive disorder: investigating genetic and clinical correlates.

    PubMed

    Hemmings, Sîan M J; Kinnear, Craig J; Lochner, Christine; Niehaus, Dana J H; Knowles, James A; Moolman-Smook, Johanna C; Corfield, Valerie A; Stein, Dan J

    2004-09-30

    There is increasing evidence that obsessive-compulsive disorder (OCD) is mediated by genetic factors. Although the precise mechanism of inheritance is unclear, recent evidence has pointed towards the involvement of the serotonergic and dopaminergic systems in the disorder's development. Furthermore, early-onset OCD appears to be a subtype that exhibits distinct clinical features and that is associated with greater familial loading. In the present investigation, South African OCD patients (n=252) were stratified according to age of onset and were clinically assessed. Additionally, selected variants in genes encoding serotonergic and dopaminergic components were investigated in a Caucasian OCD subset (n=180). This subgroup was further stratified to evaluate the role that these candidate genes may play in the genetically homogeneous Afrikaner subset (n=80). Analysis of the clinical data revealed an association between early age of onset and an increased frequency of tics, Tourette's disorder, and trichotillomania (TTM). The genetic studies yielded statistically significant results when the allelic distributions of genetic variants in the dopamine receptor type 4 gene (DRD4) were analysed in the Caucasian OCD cohort. These data support a role for the dopaminergic system, which may be relevant to the development of early-onset OCD.

  20. Early Identification of Autism: Early Characteristics, Onset of Symptoms, and Diagnostic Stability

    ERIC Educational Resources Information Center

    Webb, Sara Jane; Jones, Emily J. H.

    2009-01-01

    In the first year of life, infants who later go on to develop autistic spectrum disorders (ASD) may exhibit subtle disruptions in social interest and attention, communication, temperament, and head circumference growth that occur prior to the onset of clinical symptoms. These disruptions may reflect the early course of ASD development and may also…

  1. Double-blind comparison of first- and second-generation antipsychotics in early-onset schizophrenia and schizo-affective disorder: findings from the treatment of early-onset schizophrenia spectrum disorders (TEOSS) study.

    PubMed

    Sikich, Linmarie; Frazier, Jean A; McClellan, Jon; Findling, Robert L; Vitiello, Benedetto; Ritz, Louise; Ambler, Denisse; Puglia, Madeline; Maloney, Ann E; Michael, Emily; De Jong, Sandra; Slifka, Karen; Noyes, Nancy; Hlastala, Stefanie; Pierson, Leslie; McNamara, Nora K; Delporto-Bedoya, Denise; Anderson, Robert; Hamer, Robert M; Lieberman, Jeffrey A

    2008-11-01

    Atypical (second-generation) antipsychotics are considered standard treatment for children and adolescents with early-onset schizophrenia and schizoaffective disorder. However, the superiority of second-generation antipsychotics over first-generation antipsychotics has not been demonstrated. This study compared the efficacy and safety of two second-generation antipsychotics (olanzapine and risperidone) with a first-generation antipsychotic (molindone) in the treatment of early-onset schizophrenia and schizoaffective disorder. This double-blind multisite trial randomly assigned pediatric patients with early-onset schizophrenia and schizoaffective disorder to treatment with either olanzapine (2.5-20 mg/day), risperidone (0.5-6 mg/day), or molindone (10-140 mg/day, plus 1 mg/day of benztropine) for 8 weeks. The primary outcome was response to treatment, defined as a Clinical Global Impression (CGI) improvement score of 1 or 2 and >or=20% reduction in Positive and Negative Syndrome Scale (PANSS) total score after 8 weeks of treatment. In total, 119 youth were randomly assigned to treatment. Of these subjects, 116 received at least one dose of treatment and thus were available for analysis. No significant differences were found among treatment groups in response rates (molindone: 50%; olanzapine: 34%; risperidone: 46%) or magnitude of symptom reduction. Olanzapine and risperidone were associated with significantly greater weight gain. Olanzapine showed the greatest risk of weight gain and significant increases in fasting cholesterol, low density lipoprotein, insulin, and liver transaminase levels. Molindone led to more self-reports of akathisia. Risperidone and olanzapine did not demonstrate superior efficacy over molindone for treating early-onset schizophrenia and schizoaffective disorder. Adverse effects were frequent but differed among medications. The results question the nearly exclusive use of second-generation antipsychotics to treat early-onset schizophrenia

  2. Social Status of Adolescents with an Early Onset of Externalizing Behavior: The SNARE Study

    ERIC Educational Resources Information Center

    Franken, Aart; Harakeh, Zeena; Veenstra, Rene; Vollebergh, Wilma; Dijkstra, Jan Kornelis

    2017-01-01

    This study investigated the social status (i.e., popularity, likeability, and friendships) of adolescents with an early onset of externalizing behavior (i.e., alcohol use, tobacco use, and antisocial behavior). Building on Moffitt's dual-taxonomy model, it was hypothesized that early onset adolescents were more popular, but not necessarily more…

  3. Cognitive ability in young adulthood predicts risk of early-onset dementia in Finnish men.

    PubMed

    Rantalainen, Ville; Lahti, Jari; Henriksson, Markus; Kajantie, Eero; Eriksson, Johan G; Räikkönen, Katri

    2018-06-06

    To test if the Finnish Defence Forces Basic Intellectual Ability Test scores at 20.1 years predicted risk of organic dementia or Alzheimer disease (AD). Dementia was defined as inpatient or outpatient diagnosis of organic dementia or AD risk derived from Hospital Discharge or Causes of Death Registers in 2,785 men from the Helsinki Birth Cohort Study, divided based on age at first diagnosis into early onset (<65 years) or late onset (≥65 years). The Finnish Defence Forces Basic Intellectual Ability Test comprises verbal, arithmetic, and visuospatial subtests and a total score (scores transformed into a mean of 100 and SD of 15). We used Cox proportional hazard models and adjusted for age at testing, childhood socioeconomic status, mother's age at delivery, parity, participant's birthweight, education, and stroke or coronary heart disease diagnosis. Lower cognitive ability total and verbal ability (hazard ratio [HR] per 1 SD disadvantage >1.69, 95% confidence interval [CI] 1.01-2.63) scores predicted higher early-onset any dementia risk across the statistical models; arithmetic and visuospatial ability scores were similarly associated with early-onset any dementia risk, but these associations weakened after covariate adjustments (HR per 1 SD disadvantage >1.57, 95% CI 0.96-2.57). All associations were rendered nonsignificant when we adjusted for participant's education. Cognitive ability did not predict late-onset dementia risk. These findings reinforce previous suggestions that lower cognitive ability in early life is a risk factor for early-onset dementia. © 2018 American Academy of Neurology.

  4. Early-Onset Psychosis in Youth with Intellectual Disability

    ERIC Educational Resources Information Center

    Friedlander, R. I.; Donnelly, T.

    2004-01-01

    Accurate diagnosis of psychotic disorders may be very difficult in youth with intellectual disabilities. The authors reviewed the assessment, treatment and follow-up of 21 youths with ID referred because of early onset of psychotic symptoms. Just over one half of the patients had a diagnosis of schizophrenia or schizo-affective disorder. One third…

  5. SHOX gene is expressed in vertebral body growth plates in idiopathic and congenital scoliosis: implications for the etiology of scoliosis in Turner syndrome.

    PubMed

    Day, Gregory; Szvetko, Attila; Griffiths, Lyn; McPhee, I Bruce; Tuffley, John; LaBrom, Robert; Askin, Geoffrey; Woodland, Peter; McClosky, Eamonn; Torode, Ian; Tomlinson, Francis

    2009-06-01

    Reduced SHOX gene expression has been demonstrated to be associated with all skeletal abnormalities in Turner syndrome, other than scoliosis (and kyphosis). There is evidence to suggest that Turner syndrome scoliosis is clinically and radiologically similar to idiopathic scoliosis, although the phenotypes are dissimilar. This pilot gene expression study used relative quantitative real-time PCR (qRT-PCR) of the SHOX (short stature on X) gene to determine whether it is expressed in vertebral body growth plates in idiopathic and congenital scoliosis. After vertebral growth plate dissection, tissue was examined histologically and RNA was extracted and its integrity was assessed using a Bio-Spec Mini, NanoDrop ND-1000 spectrophotometer and standard denaturing gel electrophoresis. Following cDNA synthesis, gene-specific optimization in a Corbett RotorGene 6000 real-time cycler was followed by qRT-PCR of vertebral tissue. Histological examination of vertebral samples confirmed that only growth plate was analyzed for gene expression. Cycling and melt curves were resolved in triplicate for all samples. SHOX abundance was demonstrated in congenital and idiopathic scoliosis vertebral body growth plates. SHOX expression was 11-fold greater in idiopathic compared to congenital (n = 3) scoliosis (p = 0.027). This study confirmed that SHOX was expressed in vertebral body growth plates, which implies that its expression may also be associated with the scoliosis (and kyphosis) of Turner syndrome. SHOX expression is reduced in Turner syndrome (short stature). In this study, increased SHOX expression was demonstrated in idiopathic scoliosis (tall stature) and congenital scoliosis. Copyright 2008 Orthopaedic Research Society

  6. Mapping callosal morphology in early- and late-onset elderly depression: an index of distinct changes in cortical connectivity.

    PubMed

    Ballmaier, Martina; Kumar, Anand; Elderkin-Thompson, Virginia; Narr, Katherine L; Luders, Eileen; Thompson, Paul M; Hojatkashani, Cornelius; Pham, Daniel; Heinz, Andreas; Toga, Arthur W

    2008-06-01

    There is some evidence of corpus callosum abnormalities in elderly depression, but it is not known whether these deficits are region-specific or differ based on age at onset of depression. Twenty-four patients with early-onset depression (mean age = 68.00, SD+/-5.83), 22 patients with late-onset depression (mean age = 74.50, SD+/-8.09) and 34 elderly control subjects (mean age = 72.38; SD+/-6.93) were studied. Using 3D MRI data, novel mesh-based geometrical modeling methods were applied to compare the midsagittal thickness of the corpus callosum at high spatial resolution between groups. Neuropsychological correlates of midsagittal callosal area differences were additionally investigated in a subsample of subjects. Depressed patients exhibited significant callosal thinning in the genu and splenium compared to controls. Significant callosal thinning was restricted to the genu in early-onset patients, but patients with late-onset depression exhibited significant callosal thinning in both the genu and splenium relative to controls. The splenium of the corpus callosum was also significantly thinner in subjects with late- vs early-onset depression. Genu and splenium midsagittal areas significantly correlated with memory and attention functioning among late-onset depressed patients, but not early-onset depressed patients or controls. Circumscribed structural alterations in callosal morphology may distinguish late- from early-onset depression in the elderly. These findings suggest distinct abnormalities of cortical connectivity in late- and early-onset elderly depression with possible influence on the course of illness. Patients with a late onset of depression may be at higher risk of illness progression and eventually dementia conversion than early-onset depression, with potentially important implications for research and therapy.

  7. What's New in Congenital Scoliosis?

    PubMed

    Pahys, Joshua M; Guille, James T

    2018-03-01

    Congenital scoliosis is a failure of vertebral formation, segmentation, or a combination of the 2 arising from abnormal vertebral development during weeks 4 to 6 of gestation. The associated spinal deformity can be of varying severity and result in a stable or progressive deformity based on the type and location of the anomalous vertebra(e). Bracing for congenital scoliosis is rarely indicated, while recent reports have demonstrated the utility of serial derotational casting for longer curves with multiple anomalous vertebrae as an effective "time buying strategy" to delay the need for surgery. Earlier hemivertebra excision and short-segment posterior spinal fusion have been advocated to prevent future curve progression of the deformity and/or the development of large compensatory curves. It has been shown in recent long-term follow-up studies that growth rates of the vertebral body and spinal canal are not as dramatically affected by pedicle screw instrumentation at a young age as once thought. Growth friendly surgery with either spine-based or rib-based anchors has demonstrated good results with curve correction while maintaining spinal growth. Rib-based anchors are typically more commonly indicated in the setting of chest wall abnormalities and/or when spinal anatomy precludes placement of spinal instrumentation. Recently, magnetically controlled growing rods have shown promising results in several studies that include a small subset of congenital scoliosis cases. A literature search was performed to identify existing studies related to the treatment of congenital scoliosis published from January 1, 2005 to June 1, 2016. Databases included PubMed, Medline, and the Cochrane Library. The search was limited to English articles and yielded 36 papers. This project was initiated by the Pediatric Orthopaedic Society of North America Publications Committee and was reviewed and approved by the Pediatric Orthopaedic Society of North America Presidential Line. A total of

  8. Trunk imbalance in adolescent idiopathic scoliosis.

    PubMed

    Fortin, Carole; Grunstein, Erin; Labelle, Hubert; Parent, Stefan; Ehrmann Feldman, Debbie

    2016-06-01

    Trunk imbalance (ie, frontal trunk shift measured with a plumb line from C7 to S1) is part of the clinical evaluation in adolescent idiopathic scoliosis (AIS), but its prevalence and relationship with scoliosis, back pain, and health-related factors are not well documented. The principal objectives are to document trunk imbalance prevalence and to explore the association between trunk imbalance and the following factors: Cobb angle, type of scoliosis, back pain, function, mental health, and self-image. The secondary objective is to determine back pain prevalence and the relationship between back pain and each of the following: Cobb angle, function, mental health, and self-image. This is a cross-sectional study in a scoliosis clinic of a tertiary university hospital center. The sample includes youth with AIS (N=55). The outcome measures were trunk imbalance prevalence and magnitude, and back pain prevalence and intensity using the Numeric Pain Rating Scale (NPRS) and the Scoliosis Research Society-22 (SRS-22) pain score, and the function, self-image, and mental health domains of the SRS-22. Trunk imbalance and back pain were assessed in 55 patients with AIS (Cobb angle: 10-60°). Patients completed the SRS-22 questionnaire and the NPRS. Correlations were done between trunk imbalance and scoliosis (Cobb angle, type of scoliosis), back pain (NPRS and SRS-22 pain score), and health-related factors using Pearson correlation coefficients (r) and logistic regression models. Trunk imbalance prevalence is 85% and back pain prevalence is 73%. We found fair to moderate significant positive correlation between trunk imbalance and Cobb angle (r=0.32-0.66, p<.05) but not with back pain, function, mental health, self-image, or type of scoliosis. Lower self-reported pain significantly correlated with lower Cobb angles (r=0.29, p=.03), higher function (r=0.55, p=.000), higher self-image (r=0.44, p=.001), and better mental health (r=0.48, p=.000). There was a trend for trunk

  9. Disordered vertebral and rib morphology in pudgy mice. Structural relationships to human scoliosis.

    PubMed

    Shapiro, Frederic

    2016-01-01

    Normal and abnormal vertebral development have been studied over the past 200 years at increasing levels of resolution as techniques for biological investigation have improved. Disordered development of the axial skeleton from the early embryonic period on leads to structurally malformed vertebrae and intervertebral discs and ribs causing the severe deformities of scoliosis, kyphosis, and kyphoscoliosis. Developmental malformation of the axial skeleton therefore has led to considerable biological and clinical interest. This work will detail our studies on the structural deformities of the vertebral column and adjacent ribs in the pudgy mouse [1] caused by mutations in the delta-like 3 (Dll3) gene of the Notch family [2]. While gene abnormalities in the pudgy mouse have been outlined, there has been no in-depth assessment of the histopathology of the pudgy vertebral and rib abnormalities that this study will provide. In addition, although congenital scoliosis has been recognized as a clinical problem since the mid-nineteenth century (1800s) [3] and accurately defined by radiography since the early twentieth century (1900s) [4-6], there have been few detailed histopathologic studies of human cases. We will also relate our histopathologic findings in the pudgy mouse to the histopathology of human vertebral and rib malformations in clinical cases of congenital scoliosis, one of which we defined in detail previously [7].

  10. Scoliosis-Specific exercises can reduce the progression of severe curves in adult idiopathic scoliosis: a long-term cohort study.

    PubMed

    Negrini, Alessandra; Negrini, Maria Gabriella; Donzelli, Sabrina; Romano, Michele; Zaina, Fabio; Negrini, Stefano

    2015-01-01

    Scoliosis fusion surgery is generally considered the only means to stop the progression of adult idiopathic scoliosis (ADIS), but for patients refusing surgery there is lack of evidence in favour of conservative treatment. The aim of the present study was to verify the possible effectiveness of scoliosis-specific exercises when facing ADIS progression. We designed a retrospective cohort study. We included 34 ADIS patients in treatment at our Institute (5 males and 29 females, mean age was 38.0 ± 11.0), exclusively treated with specific Scoliosis Specific SEAS exercises. SEAS exercises are scoliosis-specific exercises. In adult patients they are aimed to recover postural collapse, postural control and vertebral stability through an active self-correction. Postural integration is a key element, including the neuromotor integration of correct postures and an ergonomic education program. Therapy includes at least two weekly exercise sessions each lasting 45 min. Radiographic progression was the main outcome and it was analysed as a continuous variable. One way ANOVA and paired t-test were applied for continuous data, while chi-square test was applied for categorical data. Alpha was set at 0.05. The mean Cobb angle of the patients included into the present study, was 55.8 ± 13.2 °. Fifteen patients had previous x-rays testifying scoliosis progression: the average curve progression (worsening) was 9.8 ± 6.6 ° at a median of 25 (range 17-48) years. The remaining were characterized by more severe curves, exceeding 40 ° Cobb (mean curvature 50.9 ± 13.6) but it was not possible to prove that the curves had progressed in these cases. After an average period of 2 years of treatment (range 1-18y), 68 % of the patients experienced an improvement in their scoliosis. However in one patient (3 %) the scoliosis worsened by 5 ° in 18 years (progression rate reduced from 0.5 ° to 0.27 ° per year). Patients improved 4.6 ± 5.0 ° Cobb

  11. The association between Chiari malformation Type I, spinal syrinx, and scoliosis.

    PubMed

    Strahle, Jennifer; Smith, Brandon W; Martinez, Melaine; Bapuraj, J Rajiv; Muraszko, Karin M; Garton, Hugh J L; Maher, Cormac O

    2015-06-01

    OBJECT Chiari malformation Type I (CM-I) is often found in patients with scoliosis. Most previous reports of CM-I and scoliosis have focused on patients with CM-I and a spinal syrinx. The relationship between CM-I and scoliosis in the absence of a syrinx has never been defined clearly. The authors sought to determine if there is an independent association between CM-I and scoliosis when controlling for syrinx status. METHODS The medical records of 14,118 consecutive patients aged ≤ 18 years who underwent brain or cervical spine MRI at a single institution in an 11-year span were reviewed to identify patients with CM-I, scoliosis, and/or syrinx. The relationship between CM-I and scoliosis was analyzed by using multivariate regression analysis and controlling for age, sex, CM-I status, and syrinx status. RESULTS In this cohort, 509 patients had CM-I, 1740 patients had scoliosis, and 243 patients had a spinal syrinx. The presence of CM-I, the presence of syrinx, older age, and female sex were each significantly associated with scoliosis in the univariate analysis. In the multivariate regression analysis, older age (OR 1.02 [95% CI 1.01-1.03]; p < 0.0001), female sex (OR 1.71 [95% CI 1.54-1.90]; p < 0.0001), and syrinx (OR 9.08 [95% CI 6.82-12.10]; p < 0.0001) were each independently associated with scoliosis. CM-I was not independently associated with scoliosis when controlling for these other variables (OR 0.99 [95% CI 0.79-1.29]; p = 0.9). CONCLUSIONS A syrinx was independently associated with scoliosis in a large pediatric population undergoing MRI. CM-I was not independently associated with scoliosis when controlling for age, sex, and syrinx status. Because CM-I is not independently associated with scoliosis, scoliosis should not necessarily be considered a symptom of low cerebellar tonsil position in patients without a syrinx.

  12. Early-onset absence epilepsy aggravated by valproic acid: a video-EEG report.

    PubMed

    Belcastro, Vincenzo; Caraballo, Roberto Horacio; Romeo, Antonino; Striano, Pasquale

    2013-12-01

    Early-onset absence epilepsy refers to patients with absence seizures beginning before age 4 and comprises a heterogeneous group of epilepsies. Onset of absence seizures in the first year of life is very rare. We report a boy with absence seizures with onset at age 11 months, whose seizures increased in frequency after the introduction of valproic acid (VPA) treatment and substantially improved upon cessation of treatment. The mechanism of seizure worsening did not involve VPA toxicity, encephalopathy, Glut-1 deficiency or overdosage, and the reason for absence seizure aggravation remained unclear. The patient showed complete control of absence seizures with levetiracetam treatment and the course was benign, both in terms of seizure control and neuropsychological aspects. The similar overall electroclinical picture and outcome between children with early-onset absences and those with CAE support the view that these conditions are a continuum within the wide spectrum of IGE. [Published with video sequences].

  13. Physical examination in adolescent idiopathic scoliosis.

    PubMed

    Diab, Mohammad

    2007-04-01

    The following distinguish the physical examination in scoliosis: it is extensive, it is revealing, and it influences treatment. Throughout this discussion, reference frequently is made to evaluation for underlying neural disease. Idiopathic scoliosis is a diagnosis of exclusion, and a neural etiology of spinal deformity must be ruled out in every case.

  14. Associations of personal and family preeclampsia history with the risk of early-, intermediate- and late-onset preeclampsia.

    PubMed

    Boyd, Heather A; Tahir, Hassaan; Wohlfahrt, Jan; Melbye, Mads

    2013-12-01

    Preeclampsia encompasses multiple conditions of varying severity. We examined the recurrence and familial aggregation of preeclampsia by timing of onset, which is a marker for severity. We ascertained personal and family histories of preeclampsia for women who delivered live singletons in Denmark in 1978-2008 (almost 1.4 million pregnancies). Using log-linear binomial regression, we estimated risk ratios for the associations between personal and family histories of preeclampsia and the risk of early-onset (before 34 weeks of gestation, which is typically the most severe), intermediate-onset (at 34-36 weeks of gestation), and late-onset (after 36 weeks of gestation) preeclampsia. Previous early-, intermediate-, or late-onset preeclampsia increased the risk of recurrent preeclampsia with the same timing of onset 25.2 times (95% confidence interval (CI): 21.8, 29.1), 19.7 times (95% CI: 17.0, 22.8), and 10.3 times (95% CI: 9.85, 10.9), respectively, compared with having no such history. Preeclampsia in a woman's family was associated with a 24%-163% increase in preeclampsia risk, with the strongest associations for early- and intermediate-onset preeclampsia in female relatives. Preeclampsia in the man's family did not affect a woman's risk of early-onset preeclampsia and was only weakly associated with her risks of intermediate- and late-onset preeclampsia. Early-onset preeclampsia appears to have the largest genetic component, whereas environmental factors likely contribute most to late-onset preeclampsia. The role of paternal genes in the etiology of preeclampsia appears to be limited.

  15. Rate of complications in scoliosis surgery - a systematic review of the Pub Med literature.

    PubMed

    Weiss, Hans-Rudolf; Goodall, Deborah

    2008-08-05

    Spinal fusion surgery is currently recommended when curve magnitude exceeds 40-45 degrees. Early attempts at spinal fusion surgery which were aimed to leave the patients with a mild residual deformity, failed to meet such expectations. These aims have since been revised to the more modest goals of preventing progression, restoring 'acceptability' of the clinical deformity and reducing curvature.In view of the fact that there is no evidence that health related signs and symptoms of scoliosis can be altered by spinal fusion in the long-term, a clear medical indication for this treatment cannot be derived. Knowledge concerning the rate of complications of scoliosis surgery may enable us to establish a cost/benefit relation of this intervention and to improve the standard of the information and advice given to patients. It is also hoped that this study will help to answer questions in relation to the limiting choice between the risks of surgery and the "wait and see - observation only until surgery might be recommended", strategy widely used. The purpose of this review is to present the actual data available on the rate of complications in scoliosis surgery. Search strategy for identification of studies; Pub Med and the SOSORT scoliosis library, limited to English language and bibliographies of all reviewed articles. The search strategy included the terms; 'scoliosis'; 'rate of complications'; 'spine surgery'; 'scoliosis surgery'; 'spondylodesis'; 'spinal instrumentation' and 'spine fusion'. The electronic search carried out on the 1st February 2008 with the key words "scoliosis", "surgery", "complications" revealed 2590 titles, which not necessarily attributed to our quest for the term "rate of complications". 287 titles were found when the term "rate of complications" was used as a key word. Rates of complication varied between 0 and 89% depending on the aetiology of the entity investigated. Long-term rates of complications have not yet been reported upon. Scoliosis

  16. Gait in adolescent idiopathic scoliosis: energy cost analysis.

    PubMed

    Mahaudens, P; Detrembleur, C; Mousny, M; Banse, X

    2009-08-01

    Walking is a very common activity for the human body. It is so common that the musculoskeletal and cardiovascular systems are optimized to have the minimum energetic cost at 4 km/h (spontaneous speed). A previous study showed that lumbar and thoracolumbar adolescent idiopathic scoliosis (AIS) patients exhibit a reduction of shoulder, pelvic, and hip frontal mobility during gait. A longer contraction duration of the spinal and pelvic muscles was also noted. The energetic cost (C) of walking is normally linked to the actual mechanical work muscles have to perform. This total mechanical work (W(tot)) can be divided in two parts: the work needed to move the shoulders and lower limbs relative to the center of mass of the body (COM(b)) is known as the internal work (W(int)), whereas additional work, known as external work (W(ext)), is needed to accelerate and lift up the COM(b) relative to the ground. Normally, the COM(b) goes up and down by 3 cm with every step. Pathological walking usually leads to an increase in W (tot) (often because of increased vertical displacement of the COM(b)), and consequently, it increases the energetic cost. The goal of this study is to investigate the effects of scoliosis and scoliosis severity on the mechanical work and energetic cost of walking. Fifty-four female subjects aged 12 to 17 were used in this study. Thirteen healthy girls were in the control group, 12 were in scoliosis group 1 (Cobb angle [Cb] < or = 20 degrees), 13 were in scoliosis group 2 (20 degrees < Cb < 40 degrees), and 16 were in scoliosis group 3 (Cb > or = 40 degrees). They were assessed by physical examination and gait analysis. The 41 scoliotic patients had an untreated progressive left thoracolumbar or lumbar AIS. During gait analysis, the subject was asked to walk on a treadmill at 4 km h(-1). Movements of the limbs were followed by six infrared cameras, which tracked markers fixed on the body. W(int) was calculated from the kinematics. The movements of the COM

  17. Exome Sequencing Frequently Reveals the Cause of Early-Onset Chronic Kidney Disease

    PubMed Central

    Vivante, Asaf; Hildebrandt, Friedhelm

    2016-01-01

    The primary causes of chronic kidney disease (CKD) in children differ from those of adult onset CKD. In the United States the most common diagnostic groups of CKD that manifests before 25 years of age are: i) congenital anomalies of the kidneys and urinary tract (CAKUT) (49.1%), ii) steroid-resistant nephrotic syndrome (SRNS) (10.4%), iii) chronic glomerulonephritis (8.1%), and iv) renal cystic ciliopathies (5.3 %), encompassing >70% of CKD together. Recent findings suggest that early-onset CKD is caused by mutations in any one of over 200 different monogenic genes. High-throughput sequencing has very recently rendered identification of causative mutations in this high number of genes feasible. Molecular genetic diagnostics in early onset-CKD (before the age of 25 years) will, i) provide patients and families with a molecular genetic diagnosis, ii) generate new insights into diseases mechanisms, iii) allow etiology-based classification of patient cohorts for clinical studies and, iv) may have consequences for personalized treatment and prevention of CKD. In this review, we will discuss the implications of next-generation sequencing for clinical genetic diagnostics and discovery of novel genes in early-onset CKD. We also delineate the resulting opportunities for deciphering disease mechanisms and therapeutic implications. PMID:26750453

  18. Early-Onset Bipolar Disorder: Characteristics and Outcomes in the Clinic.

    PubMed

    Connor, Daniel F; Ford, Julian D; Pearson, Geraldine S; Scranton, Victoria L; Dusad, Asha

    2017-12-01

    To assess patient characteristics and clinician-rated outcomes for children diagnosed with early-onset bipolar disorder in comparison to a depressive disorders cohort from a single clinic site. To assess predictors of bipolar treatment response. Medical records from 714 consecutive pediatric patients evaluated and treated at an academic tertiary child and adolescent psychiatry clinic between 2006 and 2012 were reviewed. Charts of bipolar children (n = 49) and children with depressive disorders (n = 58) meeting study inclusion/exclusion criteria were compared on variables assessing clinical characteristics, treatments, and outcomes. Outcomes were assessed by using pre- and post-Clinical Global Impressions (CGI)-Severity and Children's Global Assessment Scale (CGAS) scores, and a CGI-Improvement score ≤2 at final visit determined responder status. Bipolar outcome predictors were assessed by using multiple linear regression. Clinic prevalence rates were 6.9% for early-onset bipolar disorder and 1.5% for very early-onset bipolar disorder. High rates of comorbid diagnoses, symptom severity, parental stress, and child high-risk behaviors were found in both groups. The bipolar cohort had higher rates of aggression and higher lifetime systems of care utilization. The final CGI and CGAS outcomes for unipolar depression patients differed statistically significantly from those for the bipolar cohort, reflecting better clinical status and more improvement at outcome for the depression patients. Both parent-reported Child Behavior Checklist total T-score at clinic admission and the number of lifetime systems-of-care for the child were significantly and inversely associated with improvement for the bipolar cohort. Early-onset bipolar disorder is a complex and heterogeneous psychiatric disorder. Evidence-based treatment should emphasize psychopharmacology with adjunctive family and individual psychotherapy. Strategies to improve engagement in treatment may be especially

  19. "Brace Technology" Thematic Series - The ScoliOlogiC® Chêneau light™ brace in the treatment of scoliosis.

    PubMed

    Weiss, Hans-Rudolf; Werkmann, Mario

    2010-09-06

    Bracing concepts in use today for the treatment of scoliosis include symmetric and asymmetric hard braces usually made of polyethylene (PE) and soft braces. The plaster cast method worldwide seems to be the most practiced technique for the construction of hard braces at the moment. CAD (Computer Aided Design) systems are available which allow brace adjustments without plaster. Another possibility is the use of the ScoliOlogiC™ off the shelf system enabling the Certified Prosthetist and Orthotist (CPO) to construct a light brace for scoliosis correction from a variety of pattern specific shells to be connected to an anterior and a posterior upright. This Chêneau light™ brace, developed according to the Chêneau principles, promises a reduced impediment of quality of life in the brace. The correction effects of the first 81 patients (main diagnosis Adolescent Idiopathic Scoliosis (AIS) [n = 64] or Early Onset Scoliosis (EOS) [n = 15]), treated according to the principles of the Chêneau light™ brace have shown a satisfactory in-brace correction exceeding 50% of the initial Cobb angle. The ScoliOlogiC® off the shelf bracing system enables the CPO to construct a light brace for scoliosis correction from a variety of pattern specific shells to be connected to an anterior and a posterior upright. This brace, when finally adjusted is called Chêneau light™ brace. The advantage of this new bracing system is that the brace is available immediately, is easily adjustable and that it can also be easily modified. This avoids construction periods of sometimes more than 6 weeks, where the curve may drastically increase during periods of fast growth. The disadvantage of this bracing system is that there is a wide variability of possibilities to arrange the different shells during adjustment. The Cobb angle in the whole group was reduced by an average of 16,4°, which corresponds to a correction effect of 51%. The differences were highly significant in the T-test (T = 17

  20. Physiotherapy scoliosis-specific exercises - a comprehensive review of seven major schools.

    PubMed

    Berdishevsky, Hagit; Lebel, Victoria Ashley; Bettany-Saltikov, Josette; Rigo, Manuel; Lebel, Andrea; Hennes, Axel; Romano, Michele; Białek, Marianna; M'hango, Andrzej; Betts, Tony; de Mauroy, Jean Claude; Durmala, Jacek

    2016-01-01

    In recent decades, there has been a call for change among all stakeholders involved in scoliosis management. Parents of children with scoliosis have complained about the so-called "wait and see" approach that far too many doctors use when evaluating children's scoliosis curves between 10° and 25°. Observation, Physiotherapy Scoliosis Specific Exercises (PSSE) and bracing for idiopathic scoliosis during growth are all therapeutic interventions accepted by the 2011 International Society on Scoliosis Orthopaedic and Rehabilitation Treatment (SOSORT). The standard features of these interventions are: 1) 3-dimension self-correction; 2) Training activities of daily living (ADL); and 3) Stabilization of the corrected posture. PSSE is part of a scoliosis care model that includes scoliosis specific education, scoliosis specific physical therapy exercises, observation or surveillance, psychological support and intervention, bracing and surgery. The model is oriented to the patient. Diagnosis and patient evaluation is essential in this model looking at a patient-oriented decision according to clinical experience, scientific evidence and patient's preference. Thus, specific exercises are not considered as an alternative to bracing or surgery but as a therapeutic intervention, which can be used alone or in combination with bracing or surgery according to individual indication. In the PSSE model it is recommended that the physical therapist work as part of a multidisciplinary team including the orthopeadic doctor, the orthotist, and the mental health care provider - all are according to the SOSORT guidelines and Scoliosis Research Society (SRS) philosophy. From clinical experiences, PSSE can temporarily stabilize progressive scoliosis curves during the secondary period of progression, more than a year after passing the peak of growth. In non-progressive scoliosis, the regular practice of PSSE could produce a temporary and significant reduction of the Cobb angle. PSSE can also

  1. Comparison of Neuropsychological Functioning Between Adults With Early- and Late-Onset DSM-5 ADHD.

    PubMed

    Lin, Yu-Ju; Gau, Susan Shur-Fen

    2017-09-01

    We aimed to compare the visually dependent neuropsychological functioning among adults with Diagnostic and Statistical Manual of Mental Disorders (5th ed.; DSM-5) ADHD who recalled symptom onset by and after age 7 and non-ADHD controls. We divided the participants, aged 17 to 40 years, into three groups-(a) ADHD, onset <7 years (early-onset, n = 142); (b) ADHD, onset between 7 and <12 years (late-onset, n = 41); (c) non-ADHD controls ( n = 148)-and compared their neuropsychological functioning, measured by the Cambridge Neuropsychological Testing Automated Battery. Both ADHD groups had deficits in attention and signal detectability, spatial working memory, and short-term spatial memory, but only the early-onset group showed deficits in alertness, set-shifting, and planning after controlling for age, sex, and psychiatric comorbidities. There was no statistical difference between the two ADHD groups in neuropsychological functioning. DSM-5 criteria for diagnosing adult ADHD are not too lax regarding neuropsychological functioning.

  2. Whole Exome Analysis of Early Onset Alzheimer’s Disease

    DTIC Science & Technology

    2016-04-01

    Early Onset Alzheimer’s Disease 5a. CONTRACT NUMBER W81XWH-12-1-0013 5b. GRANT NUMBER 5c. PROGRAM ELEMENT NUMBER 6. AUTHOR( S ) Margaret A. Pericak...relationship between SORL1, AD, and Parkinsonism . 16 Appendix V: ABCA7 Frameshift Deletion Associated with Alzheimer’s Disease in African Americans...onset Alzheimer disease identified using whole-exome sequencing G. W. Beecham1, B. W. Kunkle1, B. Vardarajan2, P. L. Whitehead1, S . Rolati1, E. R

  3. Evidence for apolipoprotein E {epsilon}4 association in early-onset Alzheimer`s patients with late-onset relatives

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Perez-Tur, J.; Delacourte, A.; Chartier-Harlin, M.C.

    1995-12-18

    Recently several reports have extended the apolipoprotein E (APOE) {epsilon}4 association found in late-onset Alzheimer`s disease (LOAD) patients to early-onset (EO) AD patients. We have studied this question in a large population of 119 EOAD patients (onset {<=}60 years) in which family history was carefully assessed and in 109 controls. We show that the APOE {epsilon}A allele frequency is increased only in the subset of patients who belong to families where LOAD secondary cases are present. Our sampling scheme permits us to demonstrate that, for an individual, bearing at least one {epsilon}4 allele increases both the risk of AD beforemore » age 60 and the probability of belonging to a family with late-onset affected subjects. Our results suggest that a subset of EOAD cases shares a common determinism with LOAD cases. 19 refs., 3 tabs.« less

  4. Parental and Child Characteristics Related to Early-Onset Disordered Eating: A Systematic Review.

    PubMed

    Larsen, Pernille Stemann; Strandberg-Larsen, Katrine; Micali, Nadia; Andersen, Anne-Marie Nybo

    2015-01-01

    After participating in this activity, learners should be better able to: Evaluate the evidence regarding parental and child characteristics related to early-onset disordered eating. Eating disorders are rare in children, but disordered eating is common. Understanding the phenomenology of disordered eating in childhood can aid prevention of full-blown eating disorders. The purpose of this review is to systematically extract and synthesize the evidence on parental and child characteristics related to early-onset disordered eating. Systematic searches were conducted in PubMED/MEDLINE, EMBASE, and PsycInfo using the following search terms: eating disorder, disordered eating, problem eating, anorexia nervosa, bulimia nervosa, binge eating, child, preadolescent, and early onset. Studies published from 1990 to 2013 addressing parental and child characteristics of disordered eating in children aged 6 to 12 years were eligible for inclusion. The search was restricted to studies with cross-sectional, case-control, or longitudinal designs, studies in English, and with abstracts available. Forty-four studies fit these criteria. Most studies were based on community samples with a cross-sectional design. The included studies varied considerably in size, instruments used to assess early-onset disordered eating, and parental and child characteristics investigated. Important determinants included the following: higher body weight, previously reported disordered eating, body dissatisfaction, depression, parental disordered eating, and parental comments/concerns about child's weight and eating. The findings were inconsistent for sex, age, socioeconomic status, ethnicity, self-esteem/worth, and parental body weight. In conclusion, characteristics related to early-onset disordered eating have mainly been explored with a cross-sectional design. Full understanding of causal pathways will require good-quality longitudinal studies designed to address the influence of parental eating

  5. Incidence of early-onset sepsis in infants born to women with clinical chorioamnionitis.

    PubMed

    Randis, Tara M; Rice, Madeline Murguia; Myatt, Leslie; Tita, Alan T N; Leveno, Kenneth J; Reddy, Uma M; Varner, Michael W; Thorp, John M; Mercer, Brian M; Dinsmoor, Mara J; Ramin, Susan M; Carpenter, Marshall W; Samuels, Philip; Sciscione, Anthony; Tolosa, Jorge E; Saade, George; Sorokin, Yoram

    2018-05-23

    To determine the frequency of sepsis and other adverse neonatal outcomes in women with a clinical diagnosis of chorioamnionitis. We performed a secondary analysis of a multi-center placebo-controlled trial of vitamins C/E to prevent preeclampsia in low risk nulliparous women. Clinical chorioamnionitis was defined as either the "clinical diagnosis" of chorioamnionitis or antibiotic administration during labor because of an elevated temperature or uterine tenderness in the absence of another cause. Early-onset neonatal sepsis was categorized as "suspected" or "confirmed" based on a clinical diagnosis with negative or positive blood, urine or cerebral spinal fluid cultures, respectively, within 72 h of birth. Adjusted odds ratios (ORs) and 95% confidence intervals (CIs) were estimated by logistic regression. Data from 9391 mother-infant pairs were analyzed. The frequency of chorioamnionitis was 10.3%. Overall, 6.6% of the neonates were diagnosed with confirmed (0.2%) or suspected (6.4%) early-onset sepsis. Only 0.7% of infants born in the setting of chorioamnionitis had culture-proven early-onset sepsis versus 0.1% if chorioamnionitis was not present. Clinical chorioamnionitis was associated with both suspected [OR 4.01 (3.16-5.08)] and confirmed [OR 4.93 (1.65-14.74)] early-onset neonatal sepsis, a need for resuscitation within the first 30 min after birth [OR 2.10 (1.70-2.61)], respiratory distress [OR 3.14 (2.16-4.56)], 1 min Apgar score of ≤3 [OR 2.69 (2.01-3.60)] and 4-7 [OR 1.71 (1.43-2.04)] and 5 min Apgar score of 4-7 [OR 1.67 (1.17-2.37)] (vs. 8-10). Clinical chorioamnionitis is common and is associated with neonatal morbidities. However, the vast majority of exposed infants (99.3%) do not have confirmed early-onset sepsis.

  6. [Analysis of the quality of life in patients affected by scoliosis].

    PubMed

    Leal-Hernández, M; Martínez-Monje, F; Pérez-Valencia, M; García-Romero, R; Mena-Poveda, R; Caballero-Cánovas, J

    2017-05-11

    To assess the quality of life using the SRS 22 test in patients with scoliosis of 20 or more degrees Cobb. A prospective descriptive study was conducted between April and May 2016 on patients with scoliosis of at least 20 degrees Cobb and aged between 10 and 20 years. A record was made of weight, height, body mass index, and the SR 22 specific quality of life questionnaire for patients with scoliosis was completed. Patients were divided into two groups for analysis: a) scoliosis between 20 and 29 degrees Cobb (n=44); and b) scoliosis with a Cobb of 30 degrees or greater (n=32). There were significant differences in the dimensions that assess pain, image self-perception, and satisfaction with treatment, being valued worse when the degree of scoliosis Cobb is 30 degrees or higher. There were no significant differences in function/activity or mental health. The overall score of the questionnaire was also worse in the group with the highest degree of scoliosis. The weight, height, and BMI showed no significant differences due to the varying degrees of scoliosis. Scoliosis significantly affects the quality of life of people who suffer it, and there is a negative correlation between the severity of scoliosis measured by degrees Cobb and quality of life. Copyright © 2017 Sociedad Española de Médicos de Atención Primaria (SEMERGEN). Publicado por Elsevier España, S.L.U. All rights reserved.

  7. Scoliosis in Steinert syndrome: a case report.

    PubMed

    Themistocleous, George S; Sapkas, George S; Papagelopoulos, Panayiotis J; Stilianessi, Eugenia V; Papadopoulos, Elias Ch; Apostolou, Constantinos D

    2005-01-01

    Steinert syndrome is described as an autosomal dominant condition characterized by progressive muscular wasting, myotonia, musculoskeletal manifestations and rare spinal defects. Little is reported about spinal deformity associated with this syndrome. We present a patient with Steinert syndrome complicated by scoliosis. In the literature on muscular dystrophy, other than Duchenne, little mention is given to the problem of scoliosis in general and its treatment in particular. A case report of a patient with Steinert syndrome associated with thoracic scoliosis and hypokyphosis is presented. A 17-year-old boy presented with King type II right thoracic scoliosis (T5-T11, Cobb angle of 40 degrees) and hypokyphosis--10 degrees. He was treated with posterior stabilization and instrumentation at level T3-L2 with a postoperative correction of the scoliotic curve to 20 degrees. Histopathologic examination of the muscles confirmed the diagnosis of Steinert myotonic dystrophy. At 30-month follow-up, the patient was clinically pain free and well balanced. Plain radiographs showed solid spine fusion with no loss of deformity correction. Scoliosis in Steinert syndrome shares the characteristic of an arthrogrypotic neuromuscular curve and demands the extensive soft tissue release for optimal surgical correction. Intraoperative observations included profound tissue bleeding, abnormally tough soft tissues and a difficult recovery from anaesthesia.

  8. Functional neuroanatomical associations of working memory in early-onset Alzheimer's disease.

    PubMed

    Kobylecki, Christopher; Haense, Cathleen; Harris, Jennifer M; Stopford, Cheryl L; Segobin, Shailendra H; Jones, Matthew; Richardson, Anna M T; Gerhard, Alexander; Anton-Rodriguez, José; Thompson, Jennifer C; Herholz, Karl; Snowden, Julie S

    2018-01-01

    To characterize metabolic correlates of working memory impairment in clinically defined subtypes of early-onset Alzheimer's disease. Established models of working memory suggest a key role for frontal lobe function, yet the association in Alzheimer's disease between working memory impairment and visuospatial and language symptoms suggests that temporoparietal neocortical dysfunction may be responsible. Twenty-four patients with predominantly early-onset Alzheimer's disease were clinically classified into groups with predominantly amnestic, multidomain or visual deficits. Patients underwent neuropsychological evaluation focused on the domains of episodic and working memory, T1-weighted magnetic resonance imaging and brain fluorodeoxyglucose positron emission tomography. Fluorodeoxyglucose positron emission tomography data were analysed by using a region-of-interest approach. Patients with multidomain and visual presentations performed more poorly on tests of working memory compared with amnestic Alzheimer's disease. Working memory performance correlated with glucose metabolism in left-sided temporoparietal, but not frontal neocortex. Carriers of the apolipoprotein E4 gene showed poorer episodic memory and better working memory performance compared with noncarriers. Our findings support the hypothesis that working memory changes in early-onset Alzheimer's disease are related to temporoparietal rather than frontal hypometabolism and show dissociation from episodic memory performance. They further support the concept of subtypes of Alzheimer's disease with distinct cognitive profiles due to prominent neocortical dysfunction early in the disease course. Copyright © 2017 John Wiley & Sons, Ltd. Copyright © 2017 John Wiley & Sons, Ltd.

  9. Deficits in Facial Expression Recognition in Male Adolescents with Early-Onset or Adolescence-Onset Conduct Disorder

    ERIC Educational Resources Information Center

    Fairchild, Graeme; Van Goozen, Stephanie H. M.; Calder, Andrew J.; Stollery, Sarah J.; Goodyer, Ian M.

    2009-01-01

    Background: We examined whether conduct disorder (CD) is associated with deficits in facial expression recognition and, if so, whether these deficits are specific to the early-onset form of CD, which emerges in childhood. The findings could potentially inform the developmental taxonomic theory of antisocial behaviour, which suggests that…

  10. Minimally invasive scoliosis treatment with a Ho:YAG laser

    NASA Astrophysics Data System (ADS)

    Rumpf, Christian G.; Lang, Robert D.; Goetz, Marcus H.

    2000-11-01

    Today most surgical treatment of spinal deformations is concentrated on invasive mechanical techniques with long operation times and major effects on the patient's mobility. The proposed minimally invasive technique using laser light for tissue ablation offers a possibility of gentle scoliosis treatment. It is thought that an early removal of the epiphysial growth zone on the convex side over several vertebrae results in a straightening of the spine. In a first evaluation, four different laser systems including argon ion, Nd:YAG (Q-switched), Nd:YAG (cw), and Ho:YAG laser were compared with respect to thermal damage to adjacent tissue, ablation rates, efficiency and laser handling. For in-vivo investigation, fresh lamb spine was used. Comparison showed that the Ho:YAG laser is the most appropriate laser for the given goal, providing efficient photoablation with moderate thermal effects on the adjacent tissue. In a second step the proposed minimally invasive operation technique was performed in in-vivo experiments on young foxhounds using 3D- thoracoscopic operation techniques. During these operations temperature mapping was done using fiber-optic fluorescent probes. After 12 months of normal growth the animals were sacrificed and x-ray as well as MRI was performed on the spine. First results show a positive effect of scoliotic growth in two cases. Being able to produce a scoliosis by hemiepiphysiodesis on the vertebra, It is thought that this technique is successful for a straightening of the spine on patients with scoliosis.

  11. Rate of complications in scoliosis surgery – a systematic review of the Pub Med literature

    PubMed Central

    Weiss, Hans-Rudolf; Goodall, Deborah

    2008-01-01

    Background Spinal fusion surgery is currently recommended when curve magnitude exceeds 40–45 degrees. Early attempts at spinal fusion surgery which were aimed to leave the patients with a mild residual deformity, failed to meet such expectations. These aims have since been revised to the more modest goals of preventing progression, restoring 'acceptability' of the clinical deformity and reducing curvature. In view of the fact that there is no evidence that health related signs and symptoms of scoliosis can be altered by spinal fusion in the long-term, a clear medical indication for this treatment cannot be derived. Knowledge concerning the rate of complications of scoliosis surgery may enable us to establish a cost/benefit relation of this intervention and to improve the standard of the information and advice given to patients. It is also hoped that this study will help to answer questions in relation to the limiting choice between the risks of surgery and the "wait and see – observation only until surgery might be recommended", strategy widely used. The purpose of this review is to present the actual data available on the rate of complications in scoliosis surgery. Materials and methods Search strategy for identification of studies; Pub Med and the SOSORT scoliosis library, limited to English language and bibliographies of all reviewed articles. The search strategy included the terms; 'scoliosis'; 'rate of complications'; 'spine surgery'; 'scoliosis surgery'; 'spondylodesis'; 'spinal instrumentation' and 'spine fusion'. Results The electronic search carried out on the 1st February 2008 with the key words "scoliosis", "surgery", "complications" revealed 2590 titles, which not necessarily attributed to our quest for the term "rate of complications". 287 titles were found when the term "rate of complications" was used as a key word. Rates of complication varied between 0 and 89% depending on the aetiology of the entity investigated. Long-term rates of

  12. The common single-nucleotide polymorphism rs2681472 is associated with early-onset preeclampsia in Northern Han Chinese women.

    PubMed

    Wan, Ji-Peng; Wang, Hong; Li, Chang-Zhong; Zhao, Han; You, Li; Shi, Dong-Hong; Sun, Xiu-Hua; Lv, Hong; Wang, Fei; Wen, Ze-Qing; Wang, Xie-Tong; Chen, Zi-Jiang

    2014-11-01

    Preeclampsia, characterized by hypertension and proteinuria, remains a leading cause of maternal morbidity and mortality. Recently, a genome-wide association study (GWAS) identified the single-nucleotide polymorphism, rs2681472, as a new hypertension susceptibility genetic variant. The purpose of this study was to evaluate the association between preeclampsia and rs268172 in a Northern Han Chinese population. We genotyped 1218 unrelated Northern Han Chinese women, including 515 patients with preeclampsia and 703 healthy controls. No significant differences were detected in the allele frequencies between patients and controls (P = .23). When patients were divided into early-onset and late-onset preeclampsia according to gestational age of disease onset, the allele frequencies significantly differed between controls and patients with early-onset preeclampsia (P = .02). Genotype frequencies also were significantly different between controls and patients early-onset preeclampsia when data were analyzed under additive (P = .03) and dominant (P = .009) models. We replicated this association in an independent Northern Han Chinese population and observed a significant difference in the allele frequencies between patients with early-onset preeclampsia and controls (P = .011). We report that rs2681472 is associated with early-onset preeclampsia in Northern Han Chinese women. © The Author(s) 2014.

  13. [Analysis of gene mutation of early onset epileptic spasm with unknown reason].

    PubMed

    Yang, X; Pan, G; Li, W H; Zhang, L M; Wu, B B; Wang, H J; Zhang, P; Zhou, S Z

    2017-11-02

    Objective: To summarize the gene mutation of early onset epileptic spasm with unknown reason. Method: In this prospective study, data of patients with early onset epileptic spasm with unknown reason were collected from neurological department of Children's Hospital of Fudan University between March 2016 and December 2016. Patients with known disorders such as infection, metabolic, structural, immunological problems and known genetic mutations were excluded. Patients with genetic disease that can be diagnosed by clinical manifestations and phenotypic characteristics were also excluded. Genetic research methods included nervous system panel containing 1 427 epilepsy genes, whole exome sequencing (WES), analysis of copy number variation (CNV) and karyotype analysis of chromosome. The basic information, phenotypes, genetic results and the antiepileptic treatment of patients were analyzed. Result: Nine of the 17 cases with early onset epileptic spasm were boys and eight were girls. Patients' age at first seizure onset ranged from 1 day after birth to 8 months (median age of 3 months). The first hospital visit age ranged from 1 month to 2 years (median age of 4.5 months). The time of following-up ranged from 8 months to 3 years and 10 months. All the 17 patients had early onset epileptic spasm. Video electroencephalogram was used to monitor the spasm seizure. Five patients had Ohtahara syndrome, 10 had West syndrome, two had unclear classification. In 17 cases, 10 of them had detected pathogenic genes. Nine cases had point mutations, involving SCN2A, ARX, UNC80, KCNQ2, and GABRB3. Except one case of mutations in GABRB3 gene have been reported, all the other cases had new mutations. One patient had deletion mutation in CDKL5 gene. One CNV case had 6q 22.31 5.5MB repeats. Ten cases out of 17 were using 2-3 antiepileptic drugs (AEDs) and the drugs had no effect. Seven cases used adrenocorticotropic hormone (ACTH) and prednisone besides AEDs (a total course for 8 weeks

  14. Cognitive Development in Infantile-Onset Pompe Disease Under Very Early Enzyme Replacement Therapy.

    PubMed

    Lai, Chih-Jou; Hsu, Ting-Rong; Yang, Chia-Feng; Chen, Shyi-Jou; Chuang, Ya-Chin; Niu, Dau-Ming

    2016-12-01

    Most patients with infantile-onset Pompe disease die in early infancy before beginning enzyme replacement therapy, which has made it difficult to evaluate the impact of Pompe disease on cognitive development. Patients with infantile-onset Pompe disease can survive with enzyme replacement therapy, and physicians can evaluate cognitive development in these patients. We established an effective newborn screening program with quick clinical diagnostic criteria. Cognitive and motor development were evaluated using the Bayley Scales of Infant and Toddler Development-Third Edition at 6, 12, and 24 months of age. The patients who were treated very early demonstrate normal cognitive development with no significant change in cognition during this period (P = .18 > .05). The cognitive development was positively correlated with motor development (r = 0.533, P = .011). The results indicated that very early enzyme replacement therapy could protect cognitive development in patients with infantile-onset Pompe disease up to 24 months of age. © The Author(s) 2016.

  15. Polygenic risk score of sporadic late-onset Alzheimer's disease reveals a shared architecture with the familial and early-onset forms.

    PubMed

    Cruchaga, Carlos; Del-Aguila, Jorge L; Saef, Benjamin; Black, Kathleen; Fernandez, Maria Victoria; Budde, John; Ibanez, Laura; Deming, Yuetiva; Kapoor, Manav; Tosto, Giuseppe; Mayeux, Richard P; Holtzman, David M; Fagan, Anne M; Morris, John C; Bateman, Randall J; Goate, Alison M; Harari, Oscar

    2018-02-01

    To determine whether the extent of overlap of the genetic architecture among the sporadic late-onset Alzheimer's Disease (sLOAD), familial late-onset AD (fLOAD), sporadic early-onset AD (sEOAD), and autosomal dominant early-onset AD (eADAD). Polygenic risk scores (PRSs) were constructed using previously identified 21 genome-wide significant loci for LOAD risk. We found that there is an overlap in the genetic architecture among sEOAD, fLOAD, and sLOAD. The highest association of the PRS and risk (odds ratio [OR] = 2.27; P = 1.29 × 10 -7 ) was observed in sEOAD, followed by fLOAD (OR = 1.75; P = 1.12 × 10 -7 ) and sLOAD (OR = 1.40; P = 1.21 × 10 -3 ). The PRS was associated with cerebrospinal fluid ptau 181 -Aβ 42 on eADAD (P = 4.36 × 10 -2 ). Our analysis confirms that the genetic factors identified for LOAD modulate risk in sLOAD and fLOAD and also sEOAD cohorts. Specifically, our results suggest that the burden of these risk variants is associated with familial clustering and earlier onset of AD. Although these variants are not associated with risk in the eADAD, they may be modulating age at onset. Copyright © 2017 the Alzheimer's Association. Published by Elsevier Inc. All rights reserved.

  16. Deferred and immediate imitation in regressive and early onset autism

    PubMed Central

    Rogers, Sally J.; Young, Gregory S.; Cook, Ian; Giolzetti, Angelo; Ozonoff, Sally

    2010-01-01

    Deferred imitation has long held a privileged position in early cognitive development, considered an early marker of representational thought with links to language development and symbolic processes. Children with autism have difficulties with several abilities generally thought to be related to deferred imitation: immediate imitation, language, and symbolic play. However, few studies have examined deferred imitation in early autism. The present study examined both deferred, spontaneous imitation and immediate, elicited imitation on a set of carefully matched tasks in 36 young children with autism: 16 with early onset autism, 20 with regressive autism and two contrast groups, younger typically developing children (n = 20) and age matched children with significant developmental delays (n = 21). Analyses of co-variance controlling for differences in verbal mental age revealed significant main effects for task, but no main effect of group and no interaction of task by group. Deferred imitation scores were lower than immediate imitation scores for all groups. Imitation performance was related to overall intellectual functioning for all groups, and there were moderate and significant relations between imitation in the immediate elicited condition and in the spontaneous deferred condition for all groups. Finally, there were no differences between onset subgroups in imitation scores, suggesting that the two share a similar phenotype involving both types of imitation. PMID:18221343

  17. First impression at stroke onset plays an important role in early hospital arrival.

    PubMed

    Iguchi, Yasuyuki; Wada, Kuniyasu; Shibazaki, Kensaku; Inoue, Takeshi; Ueno, Yuji; Yamashita, Shinji; Kimura, Kazumi

    2006-01-01

    Treatment for acute ischemic stroke should be administered as soon as possible after symptom onset. The aim of this study was to investigate whether or not the patient's and bystander's first impression at stroke onset was associated with hospital arrival time. To investigate the factors influencing the prehospital delay, we prospectively interviewed consecutive stroke patients and bystanders about their first impression at the stroke onset and assessed the methods of transportation, and clinical characteristics. Early arrival was defined as a hospital arrival of within 2 h from stroke onset. One hundred thirty patients were enrolled: 82% were ischemic stroke and 18% were cerebral hemorrhage. The median interval between symptom onset and the hospital arrival was 7.5 h and 30% of patients presented within 2 h of stroke onset. First impression of stroke (odds ratios [OR] 4.56, 95% confidence interval [CI] 1.54-13.5, p=0.006), presence of consciousness disturbance (OR 4.29, CI 1.39-13.3, p=0.011), arrival through other facilities (OR 0.25, CI 0.08-0.76, p=0.015), a history of diabetes (OR 0.23, CI 0.06-0.80, p=0.028) and nocturnal onset (OR 0.19, CI 0.04-0.88, p=0.042) independently contributed to the early arrival. The first impression of patients and bystanders at stroke onset is important in order to reach hospital earlier in Japan. Public educational systems such as those, which advertise stroke warning signs, are necessary.

  18. The therapeutic characteristics of serial casting on congenital scoliosis: a comparison with non-congenital cases from a single-center experience.

    PubMed

    Cao, Jun; Zhang, Xue-Jun; Sun, Ning; Sun, Lin; Guo, Dong; Qi, Xin-Yu; Bai, Yun-Song; Sun, Bao-Sheng

    2017-04-04

    The therapeutic efficacy of serial casting on idiopathic scoliosis has been gradually documented. However, literatures on serial casting for congenital scoliosis (CS) remain extremely rare. This paper aimed to compare the treatment outcomes of serial casting between CS and non-CS patients to comprehensively evaluate the therapeutic characteristics of serial casting on CS patients. A total of 23 early-onset scoliosis cases were included and divided into congenital scoliosis (CS, n = 8) and non-congenital group (non-CS, n = 15). Therapeutic outcomes including the major curve Cobb angle, thoracic kyphosis angle, lumbar lodosis angle, and thoracic spine growing rate were compared between groups at precast, after the first cast, and at the latest follow-up, respectively. All patients received the first cast at the age of 3.25 ± 1.20 years and 5.70 ± 1.18 times of cast corrections. The average casting time was 17.17 ± 3.38 months, and the mean follow-up time was 23.91 ± 12.28 months. Both CS and non-CS groups had significant decrease in Cobb angle after the first cast and at the latest follow-up (all P < 0.05). Cobb angle was significantly lower in non-CS group than in CS group at both time points (all P < 0.01). The correction rate of Cobb angle was significantly higher in non-CS group than in CS group (around 50 vs. 20%, both P < 0.01). The mean thoracic growth rate was significantly lower in CS group than in non-CS group (0.72 ± 0.20 vs. 1.42 ± 0.22 cm/year, P < 0.001). At the latest follow-up, there are 2 cases receiving growing rod surgery, 8 cases wearing a brace, and 13 cases continuing serial casting. Although the therapeutic efficacy of casting on CS patients is not as good as that on non-CS patients, casting is still an efficient treatment option for CS patients to delay the need for initial surgery.

  19. Maternal left ventricular hypertrophy and diastolic dysfunction and brain natriuretic peptide concentration in early- and late-onset pre-eclampsia.

    PubMed

    Borges, V T M; Zanati, S G; Peraçoli, M T S; Poiati, J R; Romão-Veiga, M; Peraçoli, J C; Thilaganathan, B

    2018-04-01

    Pre-eclampsia (PE) is associated with maternal cardiac remodeling and diastolic dysfunction. The aim of this study was to assess and compare maternal left ventricular structure and diastolic function and levels of brain natriuretic peptide (BNP) in women with early-onset (< 34 weeks' gestation) vs those with late-onset (≥ 34 weeks' gestation) PE. This was a prospective, cross-sectional, observational study of 30 women with early-onset PE, 32 with late-onset PE and 23 normotensive controls. Maternal cardiac structure and diastolic function were assessed by echocardiography and plasma levels of BNP were measured by enzyme immunoassay. Early- and late-onset PE were associated with increased left ventricular mass index and relative wall thickness compared with normotensive controls. In women with early-onset PE, the prevalence of concentric hypertrophy (40%) and diastolic dysfunction (23%) was also significantly higher (both P < 0.05) compared with women with late-onset PE (16% for both). Maternal serum BNP levels were significantly higher (P < 0.05) in women with early-onset PE and correlated with relative wall thickness and left ventricular mass index. Early-onset PE is associated with more severe cardiac impairment than is late-onset PE, as evidenced by an increased prevalence of concentric hypertrophy, diastolic dysfunction and higher levels of BNP. These findings suggest that early-onset PE causes greater myocardial damage, increasing the risk of both peripartum and postpartum cardiovascular morbidity. Although these cardiovascular effects are easily identified by echocardiographic parameters and measuring BNP, further studies are needed to assess their clinical utility. Copyright © 2017 ISUOG. Published by John Wiley & Sons Ltd. Copyright © 2017 ISUOG. Published by John Wiley & Sons Ltd.

  20. Early onset marfan syndrome: Atypical clinical presentation of two cases

    PubMed Central

    Ozyurt, A; Baykan, A; Argun, M; Pamukcu, O; Halis, H; Korkut, S; Yuksel, Z; Gunes, T; Narin, N

    2015-01-01

    Early onset Marfan Syndrome (eoMFS) is a rare, severe form of Marfan Syndrome (MFS). The disease has a poor prognosis and most patients present with resistance to heart failure treatment during the newborn period. This report presents two cases of eoMFS with similar clinical features diagnosed in the newborn period and who died at an early age due to the complications related to the involvement of the cardiovascular system. PMID:26929908

  1. Early-onset Major Depressive Disorder in men is associated with childlessness.

    PubMed

    Yates, William R; Meller, William H; Lund, Brian C; Thurber, Steve; Grambsch, Patricia L

    2010-07-01

    The self-reported number of children was compared for men and women from the National Epidemiologic Survey of Alcoholism and Related Conditions Survey (NESARC). Subjects with a diagnosis of major depressive disorder or bipolar disorder were compared to those without an axis I disorder. The effect of age, gender, marriage and diagnostic status on number of children was completed using multivariate analyses. Men with a history of major depressive disorder but not bipolar disorder reported higher rates of childlessness and lower mean number of children. This reduced number of children was related to an early age of onset of MDD. Thirty percent of men with an age of onset of MDD before 22 were childless compared to only 18.9% of men without an axis I disorder (Odds ratio=1.82, 95% CI=1.45-2.27). No effect of mood disorder on number of children was found in women with major depression or bipolar disorder. This study suggests that an early age of onset of major depressive disorder contributes to childlessness in men.

  2. Scoliosis associated with airflow obstruction due to endothoracic vertebral hump.

    PubMed

    Ito, Kenyu; Kawakami, Noriaki; Miyasaka, Kazuyoshi; Tsuji, Taichi; Ohara, Tetsuya; Nohara, Ayato

    2012-12-01

    A retrospective clinical study of scoliosis-associated airflow obstruction due to endothoracic vertebral hump. The purpose of this study was to evaluate and present anatomical features of patients with scoliosis who showed airflow obstruction caused by endothoracic vertebral hump. It is well known that severe scoliosis causes airflow restriction due to thoracic cage deformity. There have been few reports of clinical data and anatomical features on scoliosis associated with airflow obstruction due to endothoracic vertebral hump. The subjects were 6 patients. The diagnoses were idiopathic scoliosis in 3 patients, symptomatic scoliosis in 2 patients, and thoracogenic scoliosis in 1 patient. The radiological outcome, comorbidities, pre- and postoperative respiratory function, and surgical complication were analyzed. Four patients had preoperative atelectasis on the convex side of the lower lobe and improved after the operations. All patients showed main thoracic curves and their apex was located at T7-T9. All patients had lordoscoliosis except 1, who demonstrated kyphosing scoliosis. The correction rate was 78% (62.8%-83.5%). Preoperative thoracic lordosis within the range of -5° to -47° was postoperatively corrected to a substantially normal kyphosis within the range of 9° to 24°. The average vital capacity, percent VC improved from 0.72 L (0.33-1.17 L) to 1.21 L (0.82-1.71 L) and 45.5% (37.3%- 50.8%) to 63.7% (41.0%-88.6%) relatively. Spine Penetration Index improved from 23% (18%-35%) to 16% (13%-19%). Endothoracic hump ratio improved from 1.34 (0.98-1.93) to 1.12 (0.86-1.28). Each patient with symptomatic scoliosis and thoracogenic scoliosis required relatively long periods of respiration management. Patients having lordoscoliosis with an apex located between T7 and T9 may develop airflow obstruction due to an endothoracic vertebral hump. Correction of lordoscoliosis through anterior and posterior approaches successfully improved endothoracic hump ratio and

  3. Functional Connectivity of the Amygdala in Early Childhood Onset Depression

    PubMed Central

    Luking, Katherine R.; Repovs, Grega; Belden, Andy C.; Gaffrey, Michael S.; Botteron, Kelly N.; Luby, Joan L.; Barch, Deanna M.

    2011-01-01

    Objective Adult major depressive disorder (MDD) is associated with reduced cortico-limbic functional connectivity thought to indicate decreased top-down control of emotion. However, it is unclear whether such connectivity alterations are also present in early childhood onset MDD. Method Fifty-one children ages 7–11 years, prospectively studied since preschool age, completed resting state fMRI and were assigned to four groups: 1) C-MDD (N=13) personal history of early childhood onset MDD; 2) M-MDD (N=11) a maternal history of affective disorders; 3) CM-MDD (N=13) both maternal and early childhood onset MDD or 4) CON (N=14) without either a personal or maternal history. We used seed-based resting state functional connectivity (rsfcMRI) analysis in an independent sample of adults to identify networks showing both positive (e.g., limbic regions) and negative (e.g., dorsal frontal/parietal regions) connectivity with the amygdala. These regions were then used in ROI based analyses of our child sample. Results We found a significant interaction between maternal affective disorder history and the child's MDD history for both positive and negative rsfcMRI networks. Specifically, when copared to CON, we found reduced connectivity between the amygdala and the “Negative Network” in children with C-MDD, M-MDD and CM-MDD. Children with either C-MDD or a maternal history of MDD (but not CM-MDD) displayed reduced connectivity between the amygdala and the “Positive Network”. Conclusions Our finding of an attenuated relationship between the amygdala, a region affected in MDD and involved in emotion processing, and cognitive control regions is consistent with a hypothesis of altered regulation of emotional processing in C-MDD suggesting developmental continuity of this alteration into early childhood. PMID:21961777

  4. Gait in adolescent idiopathic scoliosis: kinematics and electromyographic analysis

    PubMed Central

    Banse, X.; Mousny, M.; Detrembleur, C.

    2009-01-01

    Adolescent idiopathic scoliosis (AIS) is a progressive growth disease that affects spinal anatomy, mobility, and left-right trunk symmetry. Consequently, AIS can modify human locomotion. Very few studies have investigated a simple activity like walking in a cohort of well-defined untreated patients with scoliosis. The first goal of this study is to evaluate the effects of scoliosis and scoliosis severity on kinematic and electromyographic (EMG) gait variables compared to an able-bodied population. The second goal is to look for any asymmetry in these parameters during walking. Thirteen healthy girls and 41 females with untreated AIS, with left thoracolumbar or lumbar primary structural curves were assessed. AIS patients were divided into three clinical subgroups (group 1 < 20°, group 2 between 20 and 40°, and group 3 > 40°). Gait analysis included synchronous bilateral kinematic and EMG measurements. The subjects walked on a treadmill at 4 km/h (comfortable speed). The tridimensional (3D) shoulder, pelvis, and lower limb motions were measured using 22 reflective markers tracked by four infrared cameras. The EMG timing activity was measured using bipolar surface electrodes on quadratus lumborum, erector spinae, gluteus medius, rectus femoris, semitendinosus, tibialis anterior, and gastrocnemius muscles. Statistical comparisons (ANOVA) were performed across groups and sides for kinematic and EMG parameters. The step length was reduced in AIS compared to normal subjects (7% less). Frontal shoulder, pelvis, and hip motion and transversal hip motion were reduced in scoliosis patients (respectively, 21, 27, 28, and 22% less). The EMG recording during walking showed that the quadratus lumborum, erector spinae, gluteus medius, and semitendinosus muscles contracted during a longer part of the stride in scoliotic patients (46% of the stride) compared with normal subjects (35% of the stride). There was no significant difference between scoliosis groups 1, 2, and 3 for

  5. Gait in adolescent idiopathic scoliosis: kinematics and electromyographic analysis.

    PubMed

    Mahaudens, P; Banse, X; Mousny, M; Detrembleur, C

    2009-04-01

    Adolescent idiopathic scoliosis (AIS) is a progressive growth disease that affects spinal anatomy, mobility, and left-right trunk symmetry. Consequently, AIS can modify human locomotion. Very few studies have investigated a simple activity like walking in a cohort of well-defined untreated patients with scoliosis. The first goal of this study is to evaluate the effects of scoliosis and scoliosis severity on kinematic and electromyographic (EMG) gait variables compared to an able-bodied population. The second goal is to look for any asymmetry in these parameters during walking. Thirteen healthy girls and 41 females with untreated AIS, with left thoracolumbar or lumbar primary structural curves were assessed. AIS patients were divided into three clinical subgroups (group 1 < 20 degrees, group 2 between 20 and 40 degrees, and group 3 > 40 degrees). Gait analysis included synchronous bilateral kinematic and EMG measurements. The subjects walked on a treadmill at 4 km/h (comfortable speed). The tridimensional (3D) shoulder, pelvis, and lower limb motions were measured using 22 reflective markers tracked by four infrared cameras. The EMG timing activity was measured using bipolar surface electrodes on quadratus lumborum, erector spinae, gluteus medius, rectus femoris, semitendinosus, tibialis anterior, and gastrocnemius muscles. Statistical comparisons (ANOVA) were performed across groups and sides for kinematic and EMG parameters. The step length was reduced in AIS compared to normal subjects (7% less). Frontal shoulder, pelvis, and hip motion and transversal hip motion were reduced in scoliosis patients (respectively, 21, 27, 28, and 22% less). The EMG recording during walking showed that the quadratus lumborum, erector spinae, gluteus medius, and semitendinosus muscles contracted during a longer part of the stride in scoliotic patients (46% of the stride) compared with normal subjects (35% of the stride). There was no significant difference between scoliosis groups 1

  6. Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy

    PubMed Central

    Nair, Umesh; Malhotra, Sony; Meyer, Esther; Trump, Natalie; Gazina, Elena V.; Papandreou, Apostolos; Ngoh, Adeline; Ackermann, Sally; Ambegaonkar, Gautam; Appleton, Richard; Desurkar, Archana; Eltze, Christin; Kneen, Rachel; Kumar, Ajith V.; Lascelles, Karine; Montgomery, Tara; Ramesh, Venkateswaran; Samanta, Rajib; Scott, Richard H.; Tan, Jeen; Whitehouse, William; Poduri, Annapurna; Scheffer, Ingrid E.; Chong, W.K. “Kling”; Cross, J. Helen; Topf, Maya; Petrou, Steven

    2018-01-01

    Objective To characterize the phenotypic spectrum, molecular genetic findings, and functional consequences of pathogenic variants in early-onset KCNT1 epilepsy. Methods We identified a cohort of 31 patients with epilepsy of infancy with migrating focal seizures (EIMFS) and screened for variants in KCNT1 using direct Sanger sequencing, a multiple-gene next-generation sequencing panel, and whole-exome sequencing. Additional patients with non-EIMFS early-onset epilepsy in whom we identified KCNT1 variants on local diagnostic multiple gene panel testing were also included. When possible, we performed homology modeling to predict the putative effects of variants on protein structure and function. We undertook electrophysiologic assessment of mutant KCNT1 channels in a xenopus oocyte model system. Results We identified pathogenic variants in KCNT1 in 12 patients, 4 of which are novel. Most variants occurred de novo. Ten patients had a clinical diagnosis of EIMFS, and the other 2 presented with early-onset severe nocturnal frontal lobe seizures. Three patients had a trial of quinidine with good clinical response in 1 patient. Computational modeling analysis implicates abnormal pore function (F346L) and impaired tetramer formation (F502V) as putative disease mechanisms. All evaluated KCNT1 variants resulted in marked gain of function with significantly increased channel amplitude and variable blockade by quinidine. Conclusions Gain-of-function KCNT1 pathogenic variants cause a spectrum of severe focal epilepsies with onset in early infancy. Currently, genotype-phenotype correlations are unclear, although clinical outcome is poor for the majority of cases. Further elucidation of disease mechanisms may facilitate the development of targeted treatments, much needed for this pharmacoresistant genetic epilepsy. PMID:29196579

  7. Early Onset Substance Use in Adolescents with Depressive, Conduct, and Comorbid Symptoms

    ERIC Educational Resources Information Center

    Stone, Andrea L.; Vander Stoep, Ann; McCauley, Elizabeth

    2016-01-01

    This study investigates whether co-occurring depressive and conduct symptoms in early adolescence are associated with an elevated occurrence of early onset substance. Five hundred twenty-one sixth graders were assessed for depressive symptoms and conduct problems and underwent five substance use assessments during middle school. Logistic…

  8. Factors influencing the evaluation and management of neuromuscular scoliosis: A review of the literature.

    PubMed

    Roberts, Simon B; Tsirikos, Athanasios I

    2016-11-21

    Neuromuscular scoliosis (NMS) is the second most prevalent spinal deformity (after idiopathic scoliosis) and is usually first identified during early childhood. Cerebral palsy (CP) is the most common cause of NMS, followed by Duchenne muscular dystrophy (DMD). Progressive spinal deformity causes difficulty with daily care, walking and sitting, and can lead to back and rib pain, cardiac and pulmonary complications, altered seizure thresholds, and skin compromise. Early referral to specialist spinal services and early diagnosis of NMS is essential to ensure appropriate multidisciplinary patient management. The most important goals for patients are preservation of function, facilitation of daily care, and alleviation of pain. Non-operative management includes observation or bracing for less severe and flexible deformity in young patients as a temporising measure to provide postural support. Surgical correction and stabilisation of NMS is considered for patients with a deformity >40-50°, but may be performed for less severe deformity in patients with DMD. Post-operative intensive care, early mobilisation and nutritional supplementation aim to minimise the rate of post-surgical complications, which are relatively common in this patient group. However, surgical management of NMS is associated with good long-term outcomes and high satisfaction rates for patients, their relatives and carers.

  9. Risk factors for scoliosis in children with neuroblastoma

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Paulino, Arnold C.; Fowler, B. Zach

    2005-03-01

    Purpose: To determine the risk factors for scoliosis in children treated for neuroblastoma. Methods and materials: From 1957 to 1997, 58 children with neuroblastoma were treated at one institution and have survived a minimum of 5 years. There were 35 boys and 23 girls with a median age of 6 months (range, 2 weeks to 15 years) at initial diagnosis. Primary site was located in the adrenal gland in 25 (43.1%), abdominal/nonadrenal in 16 (27.6%), thoracic in 12 (20.7%), cervical in 3 (5.3%), and pelvic region in 2 (3.5%). The International Neuroblastoma Staging System (INSS) stage was Stage 1 inmore » 10 (17.2%), Stage 2A in 7 (12.1%), Stage 2B in 5 (8.6%), Stage 3 in 22 (37.9%), Stage 4 in 4 (6.9%), and Stage 4S in 10 (17.2%). Thirty-three (56.9%) received chemotherapy whereas 5 (8.6%) had a laminectomy as part of the surgical procedure. Twenty-seven (46.6%) received radiotherapy (RT). Beam energy was 1.25 MV in 11 (41%), 250 kV in 10 (37%), 4 MV in 4 (15%), and 6-MV photons in 1 patient. One patient received 300 cGy in 1 fraction total skin RT using 6-MeV electrons. For the remaining patients, fraction size was 100 cGy in 6 (22%), 150-180 cGy in 11 (41%), 200 cGy in 4 (15%), and 250-300 cGy in 3. Three patients had total body irradiation at 333 cGy for 3 fractions. For all children who received RT, median total dose was 2000 cGy (range, 300-3900 cGy). Patients who were treated with RT had plain films of the irradiated area every 1 to 2 years until at least the age of puberty. Median follow-up was 10 years (range, 5-46 years). Results: The overall 5-, 10-, and 15-year scoliosis-free rates were 87.6%, 79.0%, and 76.0% respectively. Twelve (21%) developed scoliosis at a median time of 51 months (range, 8-137 months). The degree of scoliosis was mild ({<=}20 deg ) in 8 (67%). Four had scoliosis ranging from 30 deg to 66 deg ; 3 of these patients required surgical intervention, whereas 1 had an underlying Duchenne muscular dystrophy which manifested itself 8 years after

  10. [The relationship between accommodative accuracy at different near-work distances and early-onset myopia].

    PubMed

    Yu, Q W; Zhang, P; Zhou, S B; Hu, Y; Ji, M X; Luo, Y C; You, H L; Yao, Z X

    2016-07-01

    To observe the accommodative accuracy of children with early-onset myopia at different near-work distances, and discuss the relationship between accommodative accuracy and early-onset myopia. This was a case-control study. Thirty-seven emmetropic children, 41 early-onset myopic children without correction, and 39 early-onset myopic children with spectacles, aged 7 to 13 years, were included. Measures of refractive errors and accommodative accuracy at four near-work distances, including 50 cm, 40 cm, 30 cm, and 20 cm, were made using the binocular fusion cross cylinder (FCC) of an automatic phoropter. Most candidates showed accommodative lags, including the children with emmetropia. The ratio of lags in all candidates at different near-work distances was 75.21% (50 cm), 87.18% (40 cm), 92.31% (30 cm), and 98.29% (20 cm), respectively. All accommodative accuracies became worse, and the accommodative lag ratio and values of FCC increased, along with the shortening of the distance. The difference in accommodative accuracy among groups was statistically significant at 30 cm (χ(2)=7.852, P= 0.020) and 20 cm (χ(2)=6.480, P=0.039). The values of FCC among groups were significantly different at 30 cm (F=3.626, P=0.030) and 20 cm (F=3.703, P=0.028), but not at 50 cm and 40 cm (P>0.05). In addition, the FCC values of 30 cm and 20 cm had a statistically significant difference between myopic children without correction [(1.25±0.44) D and (1.76±0.43) D] and emmetropic children [(0.95±0.52) D and (1.41±0.58) D] (P=0.012, 0.008). The correlation between diopters of myopia and accommodative accuracy at different nearwork distances was not statistically significant (P>0.05). However, the correlation between diopters of myopia and the accommodative lag value (FCC) at 20 cm was statistically significant (r=0.246, P=0.028). The closer the near-work distance is, the worse the accommodative accuracy is. This is more significant in early-onset myopia, especially myopia without

  11. Assessing the Clinical Role of Genetic Markers of Early-Onset Prostate Cancer Among High-Risk Men Enrolled in Prostate Cancer Early Detection

    PubMed Central

    Hughes, Lucinda; Zhu, Fang; Ross, Eric; Gross, Laura; Uzzo, Robert G.; Chen, David Y. T.; Viterbo, Rosalia; Rebbeck, Timothy R.; Giri, Veda N.

    2011-01-01

    Background Men with familial prostate cancer (PCA) and African American men are at risk for developing PCA at younger ages. Genetic markers predicting early-onset PCA may provide clinically useful information to guide screening strategies for high-risk men. We evaluated clinical information from six polymorphisms associated with early-onset PCA in a longitudinal cohort of high-risk men enrolled in PCA early detection with significant African American participation. Methods Eligibility criteria include ages 35–69 with a family history of PCA or African American race. Participants undergo screening and biopsy per study criteria. Six markers associated with early-onset PCA (rs2171492 (7q32), rs6983561 (8q24), rs10993994 (10q11), rs4430796 (17q12), rs1799950 (17q21), and rs266849 (19q13)) were genotyped. Cox models were used to evaluate time to PCA diagnosis and PSA prediction for PCA by genotype. Harrell’s concordance index was used to evaluate predictive accuracy for PCA by PSA and genetic markers. Results 460 participants with complete data and ≥1 follow-up visit were included. 56% were African American. Among African American men, rs6983561 genotype was significantly associated with earlier time to PCA diagnosis (p=0.005) and influenced prediction for PCA by the PSA (p<0.001). When combined with PSA, rs6983561 improved predictive accuracy for PCA compared to PSA alone among African American men (PSA= 0.57 vs. PSA+rs6983561=0.75, p=0.03). Conclusions Early-onset marker rs6983561 adds potentially useful clinical information for African American men undergoing PCA risk assessment. Further study is warranted to validate these findings. Impact Genetic markers of early-onset PCA have potential to refine and personalize PCA early detection for high-risk men. PMID:22144497

  12. The cortical damage, early relapses, and onset of the progressive phase in multiple sclerosis.

    PubMed

    Scalfari, Antonio; Romualdi, Chiara; Nicholas, Richard S; Mattoscio, Miriam; Magliozzi, Roberta; Morra, Aldo; Monaco, Salvatore; Muraro, Paolo A; Calabrese, Massimiliano

    2018-05-16

    To investigate the relationship among cortical radiologic changes, the number of early relapses (ERs), and the long-term course of multiple sclerosis (MS). In this cohort study, we assessed the number of cortical lesions (CLs) and white matter (WM) lesions and the cortical thickness (Cth) at clinical onset and after 7.9 mean years among 219 patients with relapsing remitting (RR) MS with 1 (Low-ER), 2 (Mid-ER), and ≥3 (High-ER) ERs during the first 2 years. Kaplan-Meier and Cox regression analyses investigated early factors influencing the risk of secondary progressive (SP) MS. Fifty-nine patients (27%) converted to SPMS in 6.1 mean years. A larger number of CLs at onset predicted a higher risk of SPMS (hazard ratio [HR] 2.16, 4.79, and 12.3 for 2, 5, and 7 CLs, respectively, p < 0.001) and shorter latency to progression. The High-ER compared to the Low-ER and Mid-ER groups had a larger volume of WM lesions and CLs at onset, accrued more CLs, experienced more severe cortical atrophy over time, and entered the SP phase more rapidly. In the multivariate model, older age at onset (HR 1.97, p < 0.001), a larger baseline CL (HR 2.21, p = 0.005) and WM lesion (HR 1.32, p = 0.03) volume, early changes of global Cth (HR 1.36, p = 0.03), and ≥3 ERs (HR 6.08, p < 0.001) independently predicted a higher probability of SP. Extensive cortical damage at onset is associated with florid inflammatory clinical activity and predisposes to a rapid occurrence of the progressive phase. Age at onset, the number of early attacks, and the extent of baseline focal cortical damage can identify groups at high risk of progression who may benefit from more active therapy. © 2018 American Academy of Neurology.

  13. Reversal of childhood idiopathic scoliosis in an adult, without surgery: a case report and literature review

    PubMed Central

    2009-01-01

    Background Some patients with mild or moderate thoracic scoliosis (Cobb angle <50-60 degrees) suffer disproportionate impairment of pulmonary function associated with deformities in the sagittal plane and reduced flexibility of the spine and chest cage. Long-term improvement in the clinical signs and symptoms of childhood onset scoliosis in an adult, without surgical intervention, has not been documented previously. Case presentation A diagnosis of thoracic scoliosis (Cobb angle 45 degrees) with pectus excavatum and thoracic hypokyphosis in a female patient (DOB 9/17/52) was made in June 1964. Immediate spinal fusion was strongly recommended, but the patient elected a daily home exercise program taught during a 6-week period of training by a physical therapist. This regime was carried out through 1992, with daily aerobic exercise added in 1974. The Cobb angle of the primary thoracic curvature remained unchanged. Ongoing clinical symptoms included dyspnea at rest and recurrent respiratory infections. A period of multimodal treatment with clinical monitoring and treatment by an osteopathic physician was initiated when the patient was 40 years old. This included deep tissue massage (1992-1996); outpatient psychological therapy (1992-1993); a daily home exercise program focused on mobilization of the chest wall (1992-2005); and manipulative medicine (1994-1995, 1999-2000). Progressive improvement in chest wall excursion, increased thoracic kyphosis, and resolution of long-standing respiratory symptoms occurred concomitant with a >10 degree decrease in Cobb angle magnitude of the primary thoracic curvature. Conclusion This report documents improved chest wall function and resolution of respiratory symptoms in response to nonsurgical approaches in an adult female, diagnosed at age eleven years with idiopathic scoliosis. PMID:20003501

  14. The Use of Cannabis as a Predictor of Early Onset of Bipolar Disorder and Suicide Attempts

    PubMed Central

    Leite, Rafaela Torres Portugal; Nogueira, Sarah de Oliveira; do Nascimento, João Paulo Rodrigues; de Lima, Laisa Soares; da Nóbrega, Taís Bastos; Virgínio, Mariana da Silva; Moreno, Lucas Monte da Costa; Sampaio, Bruno Henrique Barbosa; Souza, Fábio Gomes de Matos e

    2015-01-01

    Introduction. Bipolar disorder (BD) implies risk of suicide. The age at onset (AAO) of BD carries prognostic significance. Substance abuse may precede the onset of BD and cannabis is the most common illicit drug used. The main goal of this study is to review the association of cannabis use as a risk factor for early onset of BD and for suicide attempts. Materials and Methods. PubMed database was searched for articles using key words “bipolar disorder,” “suicide attempts,” “cannabis,” “marijuana,” “early age at onset,” and “early onset.” Results. The following percentages in bipolar patients were found: suicide attempts 3.6–42%; suicide attempts and substance use 5–60%; suicide attempts and cannabis use 15–42%. An early AAO was associated with cannabis misuse. The mean age of the first manic episode in individuals with and without BD and cannabis use disorder (CUD) was 19.5 and 25.1 years, respectively. The first depressive episode was at 18.5 and 24.4 years, respectively. Individuals misusing cannabis showed increased risk of suicide. Discussion. Cannabis use is associated with increased risk of suicide attempts and with early AAO. However, the effect of cannabis at the AAO and suicide attempts is not clear. PMID:26097750

  15. Circulatory nucleosome levels are significantly increased in early and late-onset preeclampsia.

    PubMed

    Zhong, Xiao Yan; Gebhardt, Stefan; Hillermann, Renate; Tofa, Kashefa Carelse; Holzgreve, Wolfgang; Hahn, Sinuhe

    2005-08-01

    Elevations in circulatory DNA, as measured by real-time PCR, have been observed in pregnancies with manifest preeclampsia. Recent reports have indicated that circulatory nucleosome levels are elevated in the periphery of cancer patients. We have now examined whether circulatory nucleosome levels are similarly elevated in cases with preeclampsia. Maternal plasma samples were prepared from 17 cases with early onset preeclampsia (<34 weeks gestation) with 14 matched normotensive controls, as well as 15 cases late-onset preeclampsia (>34 weeks gestation) with 10 matched normotensive controls. Levels of circulatory nucleosomes were quantified by commercial ELISA (enzyme-linked immunosorbant assay). The level of circulatory nucleosomes was significantly elevated in both study preeclampsia groups, compared to the matched normotensive control group (p = 0.000 and p = 0.001, respectively). Our data suggests that preeclampsia is associated with the elevated presence of circulatory nucleosomes, and that this phenomenon occurs in both early- and late-onset forms of the disorder. Copyright 2005 John Wiley & Sons, Ltd.

  16. Study protocol: EXERcise and cognition in sedentary adults with early-ONset dementia (EXERCISE-ON).

    PubMed

    Hooghiemstra, Astrid M; Eggermont, Laura H P; Scheltens, Philip; van der Flier, Wiesje M; Bakker, Jet; de Greef, Mathieu H G; Koppe, Peter A; Scherder, Erik J A

    2012-08-16

    Although the development of early-onset dementia is a radical and invalidating experience for both patient and family there are hardly any non-pharmacological studies that focus on this group of patients. One type of a non-pharmacological intervention that appears to have a beneficial effect on cognition in older persons without dementia and older persons at risk for dementia is exercise. In view of their younger age early-onset dementia patients may be well able to participate in an exercise program. The main aim of the EXERCISE-ON study is to assess whether exercise slows down the progressive course of the symptoms of dementia. One hundred and fifty patients with early-onset dementia are recruited. After completion of the baseline measurements, participants living within a 50 kilometre radius to one of the rehabilitation centres are randomly assigned to either an aerobic exercise program in a rehabilitation centre or a flexibility and relaxation program in a rehabilitation centre. Both programs are applied three times a week during 3 months. Participants living outside the 50 kilometre radius are included in a feasibility study where participants join in a daily physical activity program set at home making use of pedometers. Measurements take place at baseline (entry of the study), after three months (end of the exercise program) and after six months (follow-up). Primary outcomes are cognitive functioning; psychomotor speed and executive functioning; (instrumental) activities of daily living, and quality of life. Secondary outcomes include physical, neuropsychological, and rest-activity rhythm measures. The EXERCISE-ON study is the first study to offer exercise programs to patients with early-onset dementia. We expect this study to supply evidence regarding the effects of exercise on the symptoms of early-onset dementia, influencing quality of life. The present study is registered within The Netherlands National Trial Register (ref: NTR2124).

  17. Conservative management of idiopathic scoliosis--guidelines based on SOSORT 2006 Consensus.

    PubMed

    Kotwicki, Tomasz; Durmała, Jacek; Czaprowski, Dariusz; Głowacki, Maciej; Kołban, Maciej; Snela, Sławomir; Sliwiński, Zbigniew; Kowalski, Ireneusz M

    2009-01-01

    Idiopathic scoliosis, defined as a lateral curvature of the spine of above 10 degrees (Cobb angle), is seen in 2-3% of the growing age population, while curves above 20 degrees , requiring conservative treatment, are found in 0.3-0.5%. In our observation, both under-treatment of progressive curves and over-treatment of stable cases are common during conservative management of scoliosis. A model of therapeutic management is presented based on the experience of Polish clinicians specialising in the treatment of scoliosis as well as the effects of work of a panel of experts of SOSORT (Society on Scoliosis Orthopaedic and Rehabilitation Treatment). The model comprises the indications for conservative treatment according to age, curve type and size and Risser grading. The aetiology, classifications, usefulness of the Lonstein and Carlson factor of progression and other methods of determining the probability of scoliosis progression, as well as the psychological aspects of conservative management are presented. Based on the knowledge of the natural history of idiopathic scoliosis, factors of progression and on the SOSORT experts' opinion, guidelines are proposed for clinicians treating children and adolescents with idiopathic scoliosis, including the timing and course of brace treatment and the types of exercises. Uniform practical guidelines developed by experts may represent an essential step towards establishing standards of conservative scoliosis care in our country.

  18. Psychological differences between early- and late-onset psoriasis: a study of personality traits, anxiety and depression in psoriasis.

    PubMed

    Remröd, C; Sjöström, K; Svensson, A

    2013-08-01

    Onset of psoriasis may occur at any age. Early negative experiences often influence personality development, and may lead to physical disease, anxiety and depression in adulthood. Knowledge about onset of psoriasis and psychopathology is limited. To examine whether patients with early-onset psoriasis differ psychologically from patients with late-onset psoriasis, regarding personality traits, anxiety and depression. A descriptive cross-sectional study was conducted among 101 consecutively recruited outpatients with psoriasis. A psychosocial interview was performed followed by self-assessment of validated questionnaires: Swedish Universities Scales of Personality (SSP), Spielberger State-Trait Anxiety Inventory and Beck Depression Inventory. Psoriasis severity was assessed by the Psoriasis Area and Severity Index. Patients with early-onset psoriasis (age < 20 years) were significantly more anxious and depressed than patients with late-onset psoriasis. In multiple linear regression models, younger age at onset of psoriasis was a significant determinant of higher scores of four personality traits: SSP-embitterment, -trait irritability, -mistrust and -verbal trait aggression. Our results indicate that early detection of psychological vulnerability when treating children and adolescents with psoriasis seems to be of great importance. Traits of psychological vulnerability and pessimistic personality traits were found to be significantly associated with the early onset of psoriasis, but not with disease duration in this study. These traits may be seen as a consequence of psoriasis, and/or as individual traits modulating and impairing clinical course and efforts to cope with psoriasis. © 2013 The Authors BJD © 2013 British Association of Dermatologists.

  19. EARLY ONSET OF DELINQUENCY AND THE TRAJECTORY OF ALCOHOL-IMPAIRED DRIVING AMONG YOUNG MALES*

    PubMed Central

    Zhang, Lening; Wieczorek, William F.; Welte, John W.

    2011-01-01

    Building upon the literature in developmental and life-course criminology, the present study assesses the possible association of age onset of delinquency with the trajectory of alcohol-impaired driving using data collected from the three waves of the Buffalo Longitudinal Survey of Young Men (BLSYM). It is argued that as a unique form of delinquency, alcohol-impaired driving among adolescents may be better understood in a broad context of adolescent delinquency involvement. The study adopts the general approach for the analysis of early onset of delinquency and criminal careers in developmental and life-course criminology and hypothesizes that early onset of delinquency is associated with a higher growth of alcohol-impaired driving over time among adolescents when age onsets of alcohol-impaired driving, drinking, and drug use are controlled. Our analysis with the HLM growth modeling method provides support for the hypothesis. Respondents who had an early start in delinquency were likely to have a faster growth of alcohol-impaired driving over the three waves of BLSYM, which implies that these respondents were likely to have a longer path of alcohol-impaired driving in their transition to adulthood. The implication of this finding is discussed. PMID:21831528

  20. Prognosis and response to laser treatment of early-onset hypertrophic port-wine stains (PWS).

    PubMed

    Passeron, Thierry; Salhi, Aicha; Mazer, Jean-Michel; Lavogiez, Céline; Mazereeuw-Hautier, Juliette; Galliot, Chrystèle; Collet-Villette, Anne-Marie; Labreze, Christine; Boon, Laurence; Hardy, Jean-Philippe; Fayard, Virginie; Livideanu, Cristina Bulai; Toubel, Gérard; Georgescou, Gabriela; Gral, Nathalie; Maza, Aude; Lacour, Jean-Philippe

    2016-07-01

    There is limited information regarding early development of soft-tissue and/or bone hypertrophy with facial port-wine stains (PWS). We sought to characterize patients with hypertrophic PWS presenting during childhood. Patients with a facial PWS and underlying hypertrophy that developed before the age of 18 years were included in a multicenter retrospective study. Age at onset of the hypertrophy, its location, association with odontologic problems, presence of other associated complications, and response to laser treatment were recorded. A total of 98 patients were included. The mean age at onset of hypertrophy, retrieved for 77 of 98 patients, was 5.6 years. The hypertrophy was congenital in 26%. Odontologic problems were noted in 39.8% of cases. Other complications, including cataract, asymmetric development of the maxillary bone, and speech delay/disorders, were reported in 18.4%. In all, 67 patients received laser treatment. Only 3% achieved complete or nearly complete clearance of the PWS. As only cases of PWS with early-onset hypertrophy were included, we were unable to calculate the prevalence of this manifestation. PWS with early-onset hypertrophy are associated with a high rate of complications and a poor response to laser treatment. Periodic monitoring is recommended for early detection and treatment of complications. Copyright © 2016 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.

  1. Neuromuscular scoliosis complication rates from 2004 to 2015: a report from the Scoliosis Research Society Morbidity and Mortality database.

    PubMed

    Cognetti, Daniel; Keeny, Heather M; Samdani, Amer F; Pahys, Joshua M; Hanson, Darrell S; Blanke, Kathy; Hwang, Steven W

    2017-10-01

    OBJECTIVE Postoperative complications are one of the most significant concerns in surgeries of the spine, especially in higher-risk cases such as neuromuscular scoliosis. Neuromuscular scoliosis is a classification of multiple diseases affecting the neuromotor system or musculature of patients leading to severe degrees of spinal deformation, disability, and comorbidity, all likely contributing to higher rates of postoperative complications. The objective of this study was to evaluate deformity correction of patients with neuromuscular scoliosis over a 12-year period (2004-2015) by looking at changes in postsurgical complications and management. METHODS The authors queried the Scoliosis Research Society (SRS) Morbidity and Mortality (M&M) database for neuromuscular scoliosis cases from 2004 to 2015. The SRS M&M database is an international database with thousands of self-reported cases by fellowship-trained surgeons. The database has previously been validated, but reorganization in 2008 created less-robust data sets from 2008 to 2011. Consequently, the majority of analysis in this report was performed using cohorts that bookend the 12-year period (2004-2007 and 2012-2015). Of the 312 individual fields recorded per patient, demographic analysis was completed for age, sex, diagnosis, and preoperative curvature. Analysis of complications included infection, bleeding, mortality, respiratory, neurological deficit, and management practices. RESULTS From 2004 to 2015, a total of 29,019 cases of neuromuscular scoliosis were reported with 1385 complications, equating to a 6.3% complication rate when excluding the less-robust data from 2008 to 2011. This study shows a 3.5-fold decrease in overall complication rates from 2004 to 2015. A closer look at complications shows a significant decrease in wound infections (superficial and deep), respiratory complications, and implant-associated complications. The overall complication rate decreased by approximately 10% from 2004

  2. [Progression on finite element modeling method in scoliosis].

    PubMed

    Fan, Ning; Zang, Lei; Hai, Yong; Du, Peng; Yuan, Shuo

    2018-04-25

    Scoliosis is a complex spinal three-dimensional malformation with complicated pathogenesis, often associated with complications as thoracic deformity and shoulder imbalance. Because the acquisition of specimen or animal models are difficult, the biomechanical study of scoliosis is limited. In recent years, along with the development of the computer technology, software and image, the technology of establishing a finite element model of human spine is maturing and it has been providing strong support for the research of pathogenesis of scoliosis, the design and application of brace, and the selection of surgical methods. The finite element model method is gradually becoming an important tool in the biomechanical study of scoliosis. Establishing a high quality finite element model is the basis of analysis and future study. However, the finite element modeling process can be complex and modeling methods are greatly varied. Choosing the appropriate modeling method according to research objectives has become researchers' primary task. In this paper, the author reviews the national and international literature in recent years and concludes the finite element modeling methods in scoliosis, including data acquisition, establishment of the geometric model, the material properties, parameters setting, the validity of the finite element model validation and so on. Copyright© 2018 by the China Journal of Orthopaedics and Traumatology Press.

  3. Alcohol intake and early-onset basal cell carcinoma in a case-control study

    PubMed Central

    Zhang, Y; Ferrucci, L.M.; Cartmel, B.; Molinaro, A.M.; Leffell, D.J.; Bale, A.E.; Mayne, S.T.

    2014-01-01

    Background Previous epidemiologic studies of overall alcohol intake and basal cell carcinoma (BCC) are inconsistent, with some evidence for differences by type of alcoholic beverage. While alcohol may enhance the carcinogenicity of ultraviolet (UV) light, this has not been evaluated in existing epidemiologic studies. Objective To evaluate alcohol intake in relation to early-onset BCC, and explore potential interactions with UV exposure. Methods BCC cases (n=380) and controls with benign skin conditions (n=390) under age 40 were identified through Yale Dermatopathology. Participants provided information on lifetime alcohol intake, including type of beverage during an in-person interview. Self-report data on indoor tanning and outdoor sunbathing were used to categorize UV exposure. We calculated odds ratios (OR) and 95% confidence intervals (CI) using unconditional multivariate logistic regression in the full sample and in women only. Results There was no statistically significant association between lifetime alcohol intake and early-onset BCC overall (above median intake vs. no regular alcohol intake OR 1.10, 95% CI 0.69-1.73) or in women only (OR 1.21, 95% CI 0.73-2.01). Similarly, intake of red wine, white wine, beer or hard liquor and mixed drinks was not associated with early-onset BCC. In exploratory analyses, we saw limited evidence for an interaction (pinteraction=0.003), with highest risk for high alcohol and high UV exposures, especially in women, but subgroup risk estimates had wide and overlapping confidence intervals. Conclusions Overall, we did not observe any clear association between lifetime alcohol intake and early-onset BCC. PMID:25059635

  4. Do adolescents with idiopathic scoliosis have body schema disorders? A cross-sectional study.

    PubMed

    Picelli, Alessandro; Negrini, Stefano; Zenorini, Andrea; Iosa, Marco; Paolucci, Stefano; Smania, Nicola

    2016-01-01

    To date etiology of adolescent idiopathic scoliosis appears complex and still remains unclear. A distorted body schema has been proposed to be a part of a sequence of pathological events in the development of adolescent idiopathic scoliosis. To investigate the awareness of trunk misalignment in adolescents with idiopathic scoliosis. Information about 44 adolescents with idiopathic scoliosis was collected as follows: age; sex; handedness; family history of scoliosis; back pain; sport practice; shoulder and waist line symmetry; leg length; dorsal kyphosis; back hump; rehabilitation; scoliotic curve; Risser sign. We evaluated awareness of trunk misalignment with a graphic table displaying pictures of progressively increasing scoliotic curves. Patients were asked to indicate which picture corresponded to their perceived own spinal alignment. Patients with thoracolumbar scoliosis overestimated their actual thoracic spine curve. Patients with thoracic-thoracolumbar scoliosis underestimated their actual thoracolumbar spine curve and overestimated their actual lumbar spine curve. Scoliotic curve > 15°, double curve, younger age, back pain, family history of scoliosis and lower Risser score related with a misperception of trunk alignment. Our results support the hypothesis that adolescents with idiopathic scoliosis have an altered corporeal awareness of their trunk alignment.

  5. Do chronic medical conditions increase the risk of eating disorder? A cross-sectional investigation of eating pathology in adolescent females with scoliosis and diabetes.

    PubMed

    Smith, Fiona M; Latchford, Gary J; Hall, Richard M; Dickson, Robert A

    2008-01-01

    To investigate levels of eating pathology in female adolescents diagnosed with a chronic condition causing appearance change (adolescent-onset idiopathic scoliosis), a chronic condition affecting nutritional behavior (insulin-dependent diabetes mellitus), and healthy age-matched controls. Cross-sectional comparison of 192 females aged 11-19 years; 76 individuals diagnosed with scoliosis, 40 diagnosed with diabetes, and 76 control participants. Disordered eating behavior was quantified using the Eating Disorder Examination Questionnaire, and weight and body mass index (weight [kg]/height [m(2)]) measurements were taken for each participant. The scoliosis group weighed less and had lower BMI scores (p < .001) than control participants. Of the participants with scoliosis, 25% were severely underweight, but only two met the behavioral criteria for anorexia nervosa; in others no association with disordered eating behaviour was found. Eating disorders were significantly more common (p < .05) in the diabetes participants than in the control group, with 27.5% of the group classified as having bulimia or binge eating disorder. All those classified as overweight or obese in the diabetes group were classified as pathological in terms of eating behavior. The relationship between scoliosis and low body mass is a concern but is not a result of an eating disorder. Etiological mechanisms remain unclear and require further investigation. In the diabetes participants, bulimia and binge eating may prejudice effective condition management. Implications for successful adaptation, treatment intervention, and future research are discussed.

  6. Early Onset Bipolar Spectrum Disorder: Psychopharmacological, Psychological, and Educational Management

    ERIC Educational Resources Information Center

    McIntosh, David E.; Trotter, Jeffrey S.

    2006-01-01

    Although published research continues to advocate medication as the first line of treatment for early onset bipolar spectrum disorder (EOBSD; N. Lofthouse & M.A. Fristad, 2004), preliminary research demonstrating the utility of cognitive, cognitive-behavioral, and psychoeducational therapies is promising. It appears as if future treatment of EOBSD…

  7. Nonsurgical Management of Adolescent Idiopathic Scoliosis.

    PubMed

    Gomez, Jaime A; Hresko, M Timothy; Glotzbecker, Michael P

    2016-08-01

    Pediatric patient visits for spinal deformity are common. Most of these visits are for nonsurgical management of scoliosis, with approximately 600,000 visits for adolescent idiopathic scoliosis (AIS) annually. Appropriate management of scoliotic curves that do not meet surgical indication parameters is essential. Renewed enthusiasm for nonsurgical management of AIS (eg, bracing, physical therapy) exists in part because of the results of the Bracing in Adolescent Idiopathic Scoliosis Trial, which is the only randomized controlled trial available on the use of bracing for AIS. Bracing is appropriate for idiopathic curves between 20° and 40°, with successful control of these curves reported in >70% of patients. Patient adherence to the prescribed duration of wear is essential to maximize the effectiveness of the brace. The choice of brace type must be individualized according to the deformity and the patient's personality as well as the practice setting and brace availability.

  8. Early vs late age at onset frontotemporal dementia and frontotemporal lobar degeneration.

    PubMed

    Seo, Sang Won; Thibodeau, Marie-Pierre; Perry, David C; Hua, Alice; Sidhu, Manu; Sible, Isabel; Vargas, Jose Norberto S; Gaus, Stephanie E; Rabinovici, Gil D; Rankin, Katherine D; Boxer, Adam L; Kramer, Joel H; Rosen, Howard J; Gorno-Tempini, Maria Luisa; Grinberg, Lea T; Huang, Eric J; DeArmond, Stephen J; Trojanowski, John Q; Miller, Bruce L; Seeley, William W

    2018-03-20

    To examine clinicopathologic correlations in early vs late age at onset frontotemporal dementia (FTD) and frontotemporal lobar degeneration (FTLD). All patients were clinically evaluated and prospectively diagnosed at the UCSF Memory and Aging Center. Two consecutive series were included: (1) patients with a clinically diagnosed FTD syndrome who underwent autopsy (cohort 1) and (2) patients with a primary pathologic diagnosis of FTLD, regardless of the clinical syndrome (cohort 2). These series were divided by age at symptom onset (cutoff 65 years). In cohort 1, 48 (25.3%) were 65 years or older at symptom onset. Pathologic causes of behavioral variant FTD (bvFTD) were similar in the early age at onset (EO) and late age at onset (LO) bvFTD groups. In corticobasal syndrome (CBS), however, the most common pathologic substrate differed according to age at onset: progressive supranuclear palsy (42.9%) in LO-CBS and Alzheimer disease (AD; 40.7%) in EO-CBS. In cohort 2, 57 (28.4%) were classified as LO-FTLD. Regarding FTLD major molecular classes, FTLD with transactive response DNA-binding protein of 43 kDa was most common in EO-FTLD (44.4%), whereas FTLD-tau (58.3%) was most common in LO-FTLD. Antemortem diagnosis of a non-FTD syndrome, usually AD-type dementia, was more frequent in LO-FTLD than EO-FTLD (19.3% vs 7.7%, p = 0.017). LO-FTLD was also associated with more prevalent comorbid pathologic changes. Of these, moderate to severe AD neuropathologic change and argyrophilic grain disease were overrepresented among patients who received an antemortem diagnosis of AD-type dementia. Patients with FTD and FTLD often develop symptoms after age 65, and age at onset represents an important consideration when making antemortem neuropathologic predictions. © 2018 American Academy of Neurology.

  9. Early-onset restrictive eating disturbances in primary school boys and girls.

    PubMed

    Kurz, Susanne; van Dyck, Zoé; Dremmel, Daniela; Munsch, Simone; Hilbert, Anja

    2015-07-01

    This study sought to determine the distribution of early-onset restrictive eating disturbances characteristic of the new DSM-5 diagnosis, avoidant/restrictive food intake disorder (ARFID) in middle childhood, as well as to evaluate the screening instrument, Eating Disturbances in Youth-Questionnaire (EDY-Q). A total of 1,444 8- to 13-year-old children were screened in regular schools (3rd to 6th grade) in Switzerland using the self-report measure EDY-Q, consisting of 12 items based on the DSM-5 criteria for ARFID. 46 children (3.2%) reported features of ARFID in the self-rating. Group differences were found for body mass index, with underweight children reporting features of ARFID more often than normal and overweight children. The EDY-Q revealed good psychometric properties, including adequate discriminant and convergent validity. Early-onset restrictive eating disturbances are commonly reported in middle childhood. Because of possible negative short- and long-term impact, early detection is essential. Further studies with structured interviews and parent reports are needed to confirm this study's findings.

  10. Lower Pre-Treatment T Cell Activation in Early- and Late-Onset Tuberculosis-Associated Immune Reconstitution Inflammatory Syndrome

    PubMed Central

    Goovaerts, Odin; Jennes, Wim; Massinga-Loembé, Marguerite; Ondoa, Pascale; Ceulemans, Ann; Vereecken, Chris; Worodria, William; Mayanja-Kizza, Harriet; Colebunders, Robert; Kestens, Luc

    2015-01-01

    Background Tuberculosis-associated immune reconstitution inflammatory syndrome (TB-IRIS) is an inflammatory complication in HIV-TB co-infected patients receiving antiretroviral therapy (ART). The role of disturbed T cell reconstitution in TB-IRIS is not well understood. We investigated T cell activation and maturation profiles in patients who developed TB-IRIS at different intervals during ART. Methods Twenty-two HIV-TB patients who developed early-onset TB-IRIS and 10 who developed late-onset TB-IRIS were matched for age, sex and CD4 count to equal numbers of HIV-TB patients who did not develop TB-IRIS. Flow cytometry analysis was performed on fresh blood, drawn before and after ART initiation and during TB-IRIS events. T cell activation and maturation was measured on CD4+ and CD8+ T cells using CD45RO, CD38, HLA-DR, CCR7 and CD27 antibodies. Results CD8+ T cell activation before ART was decreased in both early-onset (77% vs. 82%, p = 0.014) and late-onset (71% vs. 83%, p = 0.012) TB-IRIS patients compared to non-IRIS controls. After ART initiation, the observed differences in T cell activation disappeared. During late-onset, but not early-onset TB-IRIS, we observed a skewing from memory to terminal effector CD4+ and CD8+ T cell populations (p≤0.028). Conclusion Our data provide evidence of reduced CD8+ T cell activation before ART as a common predisposing factor of early- and late-onset TB-IRIS. The occurrence of TB-IRIS itself was not marked by an over-activated CD8+ T cell compartment. Late- but not early-onset TB-IRIS was characterized by a more terminally differentiated T cell phenotype. PMID:26208109

  11. A computer vision system for diagnosing scoliosis using moiré images.

    PubMed

    Batouche, M; Benlamri, R; Kholladi, M K

    1996-07-01

    For young people, scoliosis deformities are an evolving process which must be detected and treated as early as possible. The moiré technique is simple, inexpensive, not aggressive and especially convenient for detecting spinal deformations. Doctors make their diagnosis by analysing the symmetry of fringes obtained by such techniques. In this paper, we present a computer vision system for help diagnosing spinal deformations using noisy moiré images of the human back. The approach adopted in this paper consists of extracting fringe contours from moiré images, then localizing some anatomical features (the spinal column, lumbar hollow and shoulder blades) which are crucial for 3D surface generation carried out using Mota's relaxation operator. Finally, rules furnished by doctors are used to derive the kind of spinal deformation and to yield the diagnosis. The proposed system has been tested on a set of noisy moiré images, and the experimental result have shown its robustness and reliability for the recognition of most scoliosis deformities.

  12. Quantification of topographic changes in the surface of back of young patients monitored for idiopathic scoliosis: correlation with radiographic variables

    NASA Astrophysics Data System (ADS)

    Pino-Almero, Laura; Mínguez-Rey, María Fe; Sentamans-Segarra, Salvador; Salvador-Palmer, María Rosario; Anda, Rosa María Cibrián-Ortiz de; La O, Javier López-de

    2016-11-01

    Idiopathic scoliosis requires a close follow-up while the patient is skeletally immature to detect early progression. Patients who are monitored by radiographs are exposed to high doses of ionizing radiation. The purpose of this study is to evaluate if an optic noninvasive method of back surface topography based on structured light would be clinically useful in the follow-up of young patients with idiopathic scoliosis. This could reduce the number of radiographs made on these children. Thirty-one patients with idiopathic scoliosis were submitted twice to radiograph and our topographic method at intervals of 6 months to 1 year. Three topographical variables were applied horizontal plane deformity index (DHOPI), posterior trunk symmetry index (POTSI), and columnar profile (PC). A statistically significant correlation was found between variations of Cobb angle with DHOPI (r=0.720, p<0.01) and POTSI (r=0.753, p<0.01) during the monitoring period. Hence, this topographic method could be useful in clinical practice as an objective adjuvant tool in routine follow-up of scoliosis.

  13. Scoliosis in Dandy-Walker syndrome: a case report and review of literature.

    PubMed

    Menon, Venugopal K; Sorur, Tamer M M; Al Ghafri, Khalifa A; Shahin, Marwan M H E

    2017-12-01

    This submission presents a case of scoliosis in a patient with established Dandy-Walker anomaly of the brain. A retrospective review of the patient's case notes was undertaken and the limited literature on this subject reviewed. The 13-year-old girl presented with a stiff right thoracic scoliosis typical of adolescent idiopathic scoliosis. The scoliotic segment also presented with significant lordosis. She had facial and truncal dysmorphism characteristic of Dandy-Walker complex and her brain images confirmed the diagnosis. She underwent scoliosis surgery by the posterior approach uneventfully. In conclusion scoliosis is hitherto unreported in the Dandy-Walker complex. The results of intervention appear satisfactory.

  14. Scoliosis in Dandy-Walker syndrome: a case report and review of literature

    PubMed Central

    Sorur, Tamer M. M.; Al Ghafri, Khalifa A.; Shahin, Marwan M. H. E.

    2017-01-01

    This submission presents a case of scoliosis in a patient with established Dandy-Walker anomaly of the brain. A retrospective review of the patient’s case notes was undertaken and the limited literature on this subject reviewed. The 13-year-old girl presented with a stiff right thoracic scoliosis typical of adolescent idiopathic scoliosis. The scoliotic segment also presented with significant lordosis. She had facial and truncal dysmorphism characteristic of Dandy-Walker complex and her brain images confirmed the diagnosis. She underwent scoliosis surgery by the posterior approach uneventfully. In conclusion scoliosis is hitherto unreported in the Dandy-Walker complex. The results of intervention appear satisfactory. PMID:29354751

  15. [Conservative treatment of idiopathic scoliosis with physical therapy and orthoses].

    PubMed

    Weiss, H-R

    2003-02-01

    Opinions differ in the international literature about the efficacy of conservative approaches to scoliosis treatment. Because this divergence of opinion corresponds to a great discrepancy in the standards applied to conservative treatment methods, it is not astonishing that the results of conservative treatment as described in the literature also differ. Scoliosis normally does not have such dramatic effects that immediate surgery would be indicated.Moreover, it is clear from the published literature that it is the functional and physiological impairments of scoliosis patients--including pain, torso deformity, psychological disturbance, and pulmonary dysfunction--which require therapeutic intervention. In Germany the triad of outpatient physiotherapy, intensive inpatient rehabilitation, and bracing has proven effective in conservative scoliosis treatment.Indication, content, and results of the individual treatment procedures are described and discussed. The positive outcomes of this practice validate a policy of offering conservative scoliosis treatment as an alternative to patients, including those for whom surgery is indicated.

  16. Preoperative urinary tract obstruction in scoliosis patients.

    PubMed

    Suzuki, Shigeru; Kotani, Toshiaki; Mori, Kazuetsu; Kawamura, Ken; Ohtake, Akira

    2017-01-01

    While the association between scoliosis and cardiac and respiratory function impairments has been well characterized in clinical practice and research, the potential effect of scoliosis on urinary tract structure and renal function has received little attention. Therefore, the purpose of this study was to evaluate the preoperative clinical characteristics of urinary tract structure and renal function in pediatric patients with idiopathic scoliosis, using a combination of blood tests, urinalysis, and imaging. Preoperative measures of urinary tract structure and renal function were obtained for 16 patients, 13-17 years old, scheduled for corrective surgery for idiopathic scoliosis. Preoperative assessment included blood test and urinalysis, combined with structural imaging on ultrasound (US), magnetic resonance imaging (MRI), magnetic resonance urography (MRU), and radioisotope tracing (RI), using technetium-99 m mercaptoacetyltriglycine ( 99m Tc-MAG3). Differences in blood and urine tests between patients with and without urinary tract obstruction (UTO) were evaluated for significance using Mann-Whitney U test. For all 16 patients, blood tests and MRU were within normal limits. Dilatation of the renal pelvis was identified on US in eight patients (50.0%). UTO was identified on RI in six patients (37.5%). UTO was associated with elevated β2-microglobulin concentration. Urinary β2-microglobulin concentration >0.7 μg/mg Cr differentiated patients with UTO from those without UTO, with a sensitivity of 100% and specificity of 70%. β2-Microglobulin concentration may be a useful marker to screen for asymptomatic UTO in patients with idiopathic scoliosis. © 2016 Japan Pediatric Society.

  17. Comparison of early versus late onset familial Mediterranean fever.

    PubMed

    Yasar Bilge, Nazife Sule; Sari, Ismail; Solmaz, Dilek; Senel, Soner; Emmungil, Hakan; Kilic, Levent; Yilmaz Oner, Sibel; Yildiz, Fatih; Yilmaz, Sedat; Ersozlu Bozkirli, Duygu; Aydin Tufan, Muge; Yilmaz, Sema; Yazisiz, Veli; Pehlivan, Yavuz; Bes, Cemal; Yildirim Cetin, Gozde; Erten, Sukran; Gonullu, Emel; Sahin, Fezan; Akar, Servet; Aksu, Kenan; Kalyoncu, Umut; Direskeneli, Haner; Erken, Eren; Sayarlioglu, Mehmet; Cınar, Muhammed; Kasifoglu, Timucin

    2018-04-01

    Familial Mediterranean fever (FMF) is the most common autoinflammatory disease. One of the common characteristics of this disease is its young age predominance. Nearly 90% of patients experience disease flares during early adult age periods. Currently there are limited data for the comparison of early versus late onset FMF and therefore the primary aim of this study was to investigate these two subsets with regard to their certain demographic, clinical and genetic differences. Early (≤ 20 years, Group 1) and late (> 20 years, Group 2) onset FMF patients were identified from the national FMF registry that involves 2246 patients from 15 adult rheumatology clinics located in different geographical areas of Turkey. Of the 2246 patients, 1633 (72.7%) were aged ≤ 20 years old (Group 1) and the remaining 613 were older than 20 years (Group 2). Delay in diagnosis was longer in Group 1 and fever, peritonitis, pleuritis, erysipelas-like erythema (ELE), arthritis, family history of FMF and amyloidosis were more common in Group 1. On the other hand, sex distribution, rates of amyloidosis, vasculitis and kidney failure were not different between the groups. Among patients with available genotypes, homozygous and heterozygous M694V mutations were significantly higher and heterozygous E148Q mutation was significantly lower in Group 1 compared to Group 2. Patients with FMF whose symptoms start before 20 years of age seem to have severe symptoms and M694V mutation may be responsible for the early expression of the disease. © 2018 Asia Pacific League of Associations for Rheumatology and John Wiley & Sons Australia, Ltd.

  18. Current insights into the aetiology of adolescent idiopathic scoliosis.

    PubMed

    Latalski, Michal; Danielewicz-Bromberek, A; Fatyga, M; Latalska, M; Kröber, M; Zwolak, P

    2017-10-01

    Scoliosis occurs in about 0.2-0.6% of the general population. In the majority of cases the cause of this entity remains mostly unidentified. The search for the causes covers almost all aspects of its possible origin. We collected and systematised the contemporary theories and concepts concerning the aetiology of adolescent idiopathic scoliosis. Genetic and hereditary factors are commonly accepted as possible causes; however, the identification of the single gene responsible for the development of this condition seems impossible, which suggests multifactorial mechanism of its formation. Dysfunctions of the nervous system are recognised risks related to the development of scoliosis, but they are classified as belonging to a separate aetiological category. Scoliosis develops at the quickest rate during the child's growth spurt, which prompted the research on the role of the growth hormone in scoliosis aetiology. Melatonin is another hormone that is studied as a possible factor involved in development of this entity. In cases of progressive scoliosis, increased activity of calmodulin-a protein that regulates the levels of calcium ions-has been observed. The scientists have characterised numerous qualitative and quantitative changes in the composition of the tissue of intervertebral discs, spinal ligaments and paraspinal muscles. Some of the theories, explaining the nature of this entity, presented in this review seem to have only a purely theoretical value; their proliferation only confirms the fact that the actual nature of this condition has not been unveiled yet, and suggests its multifactorial aetiology.

  19. Scoliosis Research Society

    MedlinePlus

    ... surgeons, innovative research and the most advanced spine technologies in an international forum. Donate Your support can change the lives of others with spinal deformities! 100 percent of all donations to the Scoliosis Research Society’s (SRS) Research, Education Outreach (REO) Fund are used ...

  20. Treatment of the idiopathic scoliosis with brace and physiotherapy.

    PubMed

    Hundozi-Hysenaj, Hajrije; Dallku, Iliriana Boshnjaku; Murtezani, Ardiana; Rrecaj, Shkurte

    2009-01-01

    Scoliosis is a three-dimensional deformation of the spine with a lateral curvature or deviation greater than 10 degrees and associated with vertebral rotation. Many conservative treatments are available for adolescents with idiopathic scoliosis, but the evidence for their effectiveness is still questioned. The objective of this study was to define the effectiveness of braces and individual physiotherapy for the comprehensive treatment of idiopathic scoliosis in adolescents. A retrospective study of 57 children with idiopathic thoracic dextroscoliosis with the magnitude of the thoracic curve between 20 degrees-35 degrees, treated in Orthopedic and Physiatrist Clinic as well as National Ortho-prosthetic Center within University Clinical Center of Kosova in Prishtina, during the period of 2003-2006. Inclusion of kinesitherapy in the comprehensive management of idiopathic scoliosis varied in the improvement of the muscle strength (satisfied and moderate) in almost 80% of the children while the correction of the curve was small in approximately 42.1% of cases. For children with idiopathic scoliosis, who require braces, an exercise program helps chest mobility, muscle strength, proper breathing flexibility in the spine, correct posture and keeps muscles in tone so that the transition period after brace removal is easier.

  1. Vasoactive agents for the prediction of early- and late-onset preeclampsia in a high-risk cohort

    PubMed Central

    2013-01-01

    Background To evaluate the soluble fms-like tyrosine kinase-1 (sFlt-1), placental growth factor (PlGF), and sFlt-1/PlGF ratio for the prediction of early- and late-onset preeclampsia in a high-risk cohort. Methods We studied serial serum samples collected prospectively at 12 + 0 - 14 + 0, 18 + 0 - 20 + 0, and 26 + 0 - 28 + 0 weeks + days of gestation in 6 women who developed early-onset preeclampsia (before 34 weeks of gestation) and in 21 women who developed late-onset preeclampsia (after 34 weeks of gestation) with automated ElecSys 2010 immunoanalyzer (Roche Diagnostics, Germany). Twenty-six high-risk women and 53 women without risk factors with normal pregnancies served as controls. Results Serum PlGF concentrations were lower at 18 + 0 to 20 + 0, and 26 + 0 to 28 + 0 weeks of gestation in women who developed early-onset preeclampsia compared to women who developed late-onset preeclampsia and to controls (p < 0.05 for all comparisons). At 18 + 0 to 20 + 0 weeks of gestation area under the receiver-operating characteristic curve (AUC) for serum PlGF was 99.8% (p = 0.0007, 95% CI 99.0-100.0). At 26 + 0 to 28 + 0 weeks of gestation serum sFlt-1/PlGF ratio explicitly detects those women who developed early-onset preeclampsia (AUC 100.0%, p = 0.0007, 95% CI 100–100). Amongst women with late-onset preeclampsia, those who developed severe form of the disease (N = 8) had significantly higher serum sFlt-1 concentrations at all three timepoints (p = 0.004, p = 0.006, and p = 0.003, respectively) compared to women with non-severe form (N = 13). Conclusions Low serum PlGF concentration predicts early-onset preeclampsia from the second trimester and elevated serum sFlt-1/PlGF ratio from 26 to 28 weeks of gestation. Elevated serum sFlt-1 concentration in the first trimester in women who later develop late-onset, severe preeclampsia may suggest different etiology compared to the late-onset

  2. Scoliosis in osteogenesis imperfecta caused by COL1A1/COL1A2 mutations - genotype-phenotype correlations and effect of bisphosphonate treatment.

    PubMed

    Sato, Atsuko; Ouellet, Jean; Muneta, Takeshi; Glorieux, Francis H; Rauch, Frank

    2016-05-01

    Bisphosphonates are widely used to treat children with osteogenesis imperfecta (OI), a bone fragility disorder that is most often caused by mutations in COL1A1 or COL1A2. However, it is unclear whether this treatment decreases the risk of developing scoliosis. We retrospectively evaluated spine radiographs and charts of 437 patients (227 female) with OI caused by mutations in COL1A1 or COL1A2 and compared the relationship between scoliosis, genotype and bisphosphonate treatment history. At the last follow-up (mean age 11.9 [SD: 5.9] years), 242 (55%) patients had scoliosis. The prevalence of scoliosis was highest in OI type III (89%), followed by OI type IV (61%) and OI type I (36%). Moderate to severe scoliosis (Cobb angle ≥25°) was rare in individuals with COL1A1 haploinsufficiency mutations but was present in about two fifth of patients with triple helical glycine substitutions or C-propeptide mutations. During the first 2 to 4years of bisphosphonate therapy, patients with OI type III had lower Cobb angle progression rates than before bisphosphonate treatment, whereas in OI types I and IV bisphosphonate treatment was not associated with a change in Cobb angle progression rates. At skeletal maturity, the prevalence of scoliosis (Cobb angle >10°) was similar in patients who had started bisphosphonate treatment early in life (before 5.0years of age) and in patients who had started therapy later (after the age of 10.0years) or had never received bisphosphonate therapy. Bisphosphonate treatment decreased progression rate of scoliosis in OI type III but there was no evidence of a positive effect on scoliosis in OI types I and IV. The prevalence of scoliosis at maturity was not influenced by the bisphosphonate treatment history in any OI type. Copyright © 2016 Elsevier Inc. All rights reserved.

  3. Alcohol intake and early-onset basal cell carcinoma in a case-control study.

    PubMed

    Zhang, Y; Ferrucci, L M; Cartmel, B; Molinaro, A M; Leffell, D J; Bale, A E; Mayne, S T

    2014-12-01

    Previous epidemiological studies of overall alcohol intake and basal cell carcinoma (BCC) are inconsistent, with some evidence for differences by type of alcoholic beverage. While alcohol may enhance the carcinogenicity of ultraviolet (UV) radiation, this has not been evaluated in existing epidemiological studies. To evaluate alcohol intake in relation to early-onset BCC, and explore potential interactions with UV exposure. Basal cell carcinoma cases (n = 380) and controls with benign skin conditions (n = 390) under 40 years of age were identified through Yale Dermatopathology. Participants provided information on lifetime alcohol intake, including type of beverage, during an in-person interview. Self-reported data on indoor tanning and outdoor sunbathing were used to categorize UV exposure. We calculated odds ratios (OR) and 95% confidence intervals (CIs) using unconditional multivariate logistic regression in the full sample and in women only. There was no statistically significant association between lifetime alcohol intake and early-onset BCC overall [above median intake vs. no regular alcohol intake (OR 1·10, 95% CI 0·69-1·73)] or in women only (OR 1·21, 95% CI 0·73-2·01). Similarly, intake of red wine, white wine, beer or spirits and mixed drinks was not associated with early-onset BCC. In exploratory analyses, we saw limited evidence for an interaction (P(interaction) = 0·003), with highest risk for high alcohol and high UV exposures, especially in women, but subgroup risk estimates had wide and overlapping CIs. Overall, we did not observe any clear association between lifetime alcohol intake and early-onset BCC. © 2014 British Association of Dermatologists.

  4. Functional Connectivity of the Amygdala in Early-Childhood-Onset Depression

    ERIC Educational Resources Information Center

    Luking, Katherine R.; Repovs, Grega; Belden, Andy C.; Gaffrey, Michael S.; Botteron, Kelly N.; Luby, Joan L.; Barch, Deanna M.

    2011-01-01

    Objective: Adult major depressive disorder (MDD) is associated with reduced cortico-limbic functional connectivity thought to indicate decreased top-down control of emotion. However, it is unclear whether such connectivity alterations are also present in early-childhood-onset MDD. Method: A total of 51 children 7 through 11 years of age who had…

  5. Two-Year Diagnostic Stability in Early-Onset First-Episode Psychosis

    ERIC Educational Resources Information Center

    Castro-Fornieles, Josefina; Baeza, Immaculada; de la Serna, Elena; Gonzalez-Pinto, Ana; Parellada, Mara; Graell, Montserrat; Moreno, Dolores; Otero, Soraya; Arango, Celso

    2011-01-01

    Background: Only one study has used a prospective method to analyze the diagnostic stability of first psychotic episodes in children and adolescents. The Child and Adolescent First-Episode Psychosis Study (CAFEPS) is a 2-year, prospective longitudinal study of early-onset first episodes of psychosis (EO-FEP). Aim: To describe diagnostic stability…

  6. A girl with early-onset epileptic encephalopathy associated with microdeletion involving CDKL5.

    PubMed

    Saitsu, Hirotomo; Osaka, Hitoshi; Nishiyama, Kiyomi; Tsurusaki, Yoshinori; Doi, Hiroshi; Miyake, Noriko; Matsumoto, Naomichi

    2012-05-01

    Recent studies have shown that aberrations of CDKL5 in female patients cause early-onset intractable seizures, severe developmental delay or regression, and Rett syndrome-like features. We report on a Japanese girl with early-onset epileptic encephalopathy, hypotonia, developmental regression, and Rett syndrome-like features. The patient showed generalized tonic seizures, and later, massive myoclonus induced by phone and light stimuli. Brain magnetic resonance imaging showed no structural brain anomalies but cerebral atrophy. Electroencephalogram showed frontal dominant diffuse poly spikes and waves. Through copy number analysis by genomic microarray, we found a microdeletion at Xp22.13. A de novo 137-kb deletion, involving exons 5-21 of CDKL5, RS1, and part of PPEF1 gene, was confirmed by quantitative PCR and breakpoint specific PCR analyses. Our report suggests that the clinical features associated with CDKL5 deletions could be implicated in Japanese patients, and that genetic testing of CDKL5, including both sequencing and deletion analyses, should be considered in girls with early-onset epileptic encephalopathy and RTT-like features. Copyright © 2011 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  7. Early onset of delinquency and the trajectory of alcohol-impaired driving among young males.

    PubMed

    Zhang, Lening; Wieczorek, William F; Welte, John W

    2011-12-01

    Building upon the literature in developmental and life-course criminology, the present study assesses the possible association of age onset of delinquency with the trajectory of alcohol-impaired driving using data collected from the three waves of the Buffalo Longitudinal Survey of Young Men (BLSYM). It is argued that as a unique form of delinquency, alcohol-impaired driving among adolescents may be better understood in a broad context of adolescent delinquency involvement. The study adopts the general approach for the analysis of early onset of delinquency and criminal careers in developmental and life-course criminology and hypothesizes that early onset of delinquency is associated with a higher growth of alcohol-impaired driving over time among adolescents when age onsets of alcohol-impaired driving, drinking, and drug use are controlled. Our analysis with the HLM growth modeling method provides support for the hypothesis. Respondents who had an early start in delinquency were likely to have a faster growth of alcohol-impaired driving over the three waves of BLSYM, which implies that these respondents were likely to have a longer path of alcohol-impaired driving in their transition to adulthood. The implication of this finding is discussed. Copyright © 2011 Elsevier Ltd. All rights reserved.

  8. [Rehabilitative treatment of idiopathic scoliosis in children and adolescents].

    PubMed

    Miriutova, N F; Kirichuk, S V; Lipina, E V

    2009-01-01

    Examination of 1326 children and adolescents revealed physiological asymmetry of neuro-orthopedic status in 57% of the subjects, functional scoliosis in 33%, and structural scoliosis in 4.5%. Only 5.5% of the examined children and adolescents did not show clinical and functional signs of spinal pathology. Treatment with mechanical vibrations (vibro-massage or "swing" therapy), pulsed extremely high frequency (EHF) waves and electrical current yielded good therapeutic effect in cases with idiopathic scoliosis. Specifically, it resulted in a diminished angle of curvature of the spine and improved muscular support of the spine.

  9. Linkage of early-onset osteoarthritis and chondrocalcinosis to human chromosome 8q

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Baldwin, C.T.; Farrer, L.A.; Adair, R.

    Calcium pyrophosphate-deposition disease (CPDD), also called {open_quotes}chondrocalcinosis{close_quotes} or {open_quotes}pseudogout{close_quotes}, is a disorder characterized by the deposition of calcium-containing crystals in joint tissue, which leads to arthritis-like symptoms. The presence of these crystals in joint tissue is a common finding in the elderly, and, in this population, there is a poor correlation with joint pain. In contrast, early-onset CPDD has been described in several large families in which the disease progresses to severe degenerative osteoarthritis (OA). In these families, an autosomal dominant mode of inheritance is observed, with an age at onset between the 2nd and 5th decades of life. Inmore » this report, we describe a large New England family with early-onset CPDD and severe degenerative OA. We found genetic linkage between the disease in this family and chromosome 8q, with a multipoint lod score of 4.06. These results suggest that a defective gene at this location causes the disease in this family. 29 refs., 2 figs., 1 tab.« less

  10. Osteoporosis in unstable adult scoliosis

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Velis, K.P.; Healey, J.H.; Schneider, R.

    1988-12-01

    New noninvasive techniques as well as conventional methods were used to evaluate skeletal mass in the following three populations of adult white women as follows: (1) 79 subjects with preexisting idiopathic scoliosis designated as unstable (US) because of the associated presence in the lumbar spine of lateral spondylolisthesis with segmental instability; (2) 67 subjects with preexisting idiopathic scoliosis without lateral spondylolisthesis designated as stable (SS); and (3) 248 age-matched nonscoliotic controls. Ages in all three groups were categorized into premenopausal (25-44 years), perimenopausal (45-54 years), and postmenopausal (55-84 years). The results showed higher scoliosis morbidity in the US compared tomore » the SS populations. The prevalence and severity of osteoporosis were markedly increased in US versus SS populations. Femoral neck density determined by dual-photon absorptiometry techniques averaged 26% to 48% lower in all age categories of US patients compared to controls. These changes were found in the youngest age groups, indicating reductions in bone mineral content earlier in the adult life of white women with a specific type of high-morbidity US characterized by the marker of lateral spondylolisthesis.« less

  11. Study protocol: EXERcise and Cognition In Sedentary adults with Early-ONset dementia (EXERCISE-ON)

    PubMed Central

    2012-01-01

    Background Although the development of early-onset dementia is a radical and invalidating experience for both patient and family there are hardly any non-pharmacological studies that focus on this group of patients. One type of a non-pharmacological intervention that appears to have a beneficial effect on cognition in older persons without dementia and older persons at risk for dementia is exercise. In view of their younger age early-onset dementia patients may be well able to participate in an exercise program. The main aim of the EXERCISE-ON study is to assess whether exercise slows down the progressive course of the symptoms of dementia. Methods/Design One hundred and fifty patients with early-onset dementia are recruited. After completion of the baseline measurements, participants living within a 50 kilometre radius to one of the rehabilitation centres are randomly assigned to either an aerobic exercise program in a rehabilitation centre or a flexibility and relaxation program in a rehabilitation centre. Both programs are applied three times a week during 3 months. Participants living outside the 50 kilometre radius are included in a feasibility study where participants join in a daily physical activity program set at home making use of pedometers. Measurements take place at baseline (entry of the study), after three months (end of the exercise program) and after six months (follow-up). Primary outcomes are cognitive functioning; psychomotor speed and executive functioning; (instrumental) activities of daily living, and quality of life. Secondary outcomes include physical, neuropsychological, and rest-activity rhythm measures. Discussion The EXERCISE-ON study is the first study to offer exercise programs to patients with early-onset dementia. We expect this study to supply evidence regarding the effects of exercise on the symptoms of early-onset dementia, influencing quality of life. Trial registration The present study is registered within The Netherlands

  12. Bilateral rib-to-pelvis Eiffel Tower VEPTR construct for children with neuromuscular scoliosis: a preliminary report.

    PubMed

    Abol Oyoun, Nariman; Stuecker, Ralf

    2014-07-01

    Neuromuscular scoliosis could develop at a young age and progress beyond skeletal maturity. An early spinal fusion arrests growth of the spine and thorax, risking the development of secondary thoracic insufficiency syndrome. Vertical expandable prosthetic titanium rib (VEPTR) is a fusionless technique aiming at correction of the deformity with preservation of growth potential. To demonstrate the preliminary results of the use of VEPTR in an Eiffel Tower construct in children with neuromuscular scoliosis in regard to coronal and sagittal profiles, space available for the lungs (SAL), and spinal growth. The report lists the complications we faced during the follow-up of 1.33 years after the index procedure. A retrospective analysis of prospectively collected data of a case series. Twenty nonambulatory children (mean 8.9 years) with neuromuscular scoliosis. Their primary diagnoses were myelomeningocele in seven, cerebral palsy in three, spinal muscular atrophy in two, myopathies in three, arthrogryposis in one, and syndromic scoliosis in four patients. All 20 patients received percutaneous rib-to-pelvis VEPTR implantation. Mean operative time was 2 hours, and mean hospital stay was 12 days. None of them needed blood transfusion. They underwent 20 primary implantations and 39 lengthenings. The patients were assessed based on physiologic measures, that is, the radiographic improvement of their scoliosis, SAL, pelvic tilt, spinal height, and sagittal and coronal decompensation. At the latest follow-up, thoracolumbar curvature improved significantly (65.7°±20.5° to 49.9°±15.7°), as did lumbar curvature (61.6°±19.5° to 35°±21.2°), thoracic (17.2±2.3 to 20±2.3 cm) and lumbar spinal height (9.9±1.7 to 11.9±1.8 cm), SAL (86.5±8.9 to 97±10), pelvic obliquity (12.5°±8° to 5.2°± 5.2°), and the iliolumbar angle (15°±8° to 10.06°±7.1°). Nine patients suffered complications in the form of proximal cradle migration (five), implant breakage (five), deep

  13. Childhood abuse and late-life depression: Mediating effects of psychosocial factors for early- and late-onset depression.

    PubMed

    Wielaard, Ilse; Hoyer, Mathijs; Rhebergen, Didi; Stek, Max L; Comijs, Hannie C

    2018-03-01

    Childhood abuse makes people vulnerable to developing depression, even in late life. Psychosocial factors that are common in late life, such as loneliness or lack of a partner, may explain this association. Our aim was to investigate whether the association between childhood abuse and depression in older adults can be explained by psychosocial factors. Cross-sectional data were derived from the Netherlands Study of Depression in Older Persons (aged 60-93), including 132 without lifetime depression, 242 persons with an early-onset depression (<60 years), and 125 with a late-onset (≥60 years) depression. Childhood abuse (yes/no) and a frequency-based childhood abuse index were included. Multinomial regression and multivariable mediation analyses were used to examine the association between childhood abuse and the onset of depression, and the influence of loneliness, social network, and partner status. Multinomial regression analyses showed a significant association between childhood abuse and the childhood abuse index with early- and late-onset depression. Multivariable mediation analyses showed that the association between childhood abuse and early-onset depression was partly mediated by social network size and loneliness. This was particularly present for emotional neglect and psychological abuse, but not for physical and sexual abuse. No psychosocial mediators were found for the association between childhood abuse and late-onset depression. A smaller social network and feelings of loneliness mediate the association between childhood abuse and early-onset depression in older adults. Our findings show the importance of detecting childhood abuse as well as the age at depression onset and mapping of relevant psychosocial factors in the treatment of late-life depression. Copyright © 2018 John Wiley & Sons, Ltd.

  14. Maturation, Peer Context, and Indigenous Girls' Early-Onset Substance Use

    ERIC Educational Resources Information Center

    Walls, Melissa L.; Whitbeck, Les B.

    2011-01-01

    This article examines a biosocial model of the impact of puberty on indigenous girls' early-onset substance use by considering the potential mediating role of peer context (i.e., mixed-sex peer groups and substance use prototypes) on the puberty and substance use relationship. Data include responses from 360 girls of a common indigenous cultural…

  15. Birdshot Retinochoroidopathy: Differences in Clinical Characteristics between Patients with Early and Late Age of Onset.

    PubMed

    Silpa-Archa, Sukhum; Cao, Jennifer H; Boonsopon, Sutasinee; Lee, Joan; Preble, Janine M; Foster, C Stephen

    2017-10-01

    To describe differences in the clinical characteristics of birdshot retinochoroidopathy (BSRC) patients diagnosed early and later in life. This is a retrospective cohort study. Age was primarily analyzed and 50 years of age at diagnosis was selected as a cut-off point. A total of 144 patients (288 eyes) were included; 68 with early-onset and 76 with late-onset BSRC. The younger group had a statistically significant higher rate of more severe iritis (p = 0.04); an average number of non-steroidal immunosuppressants and biologic agents (NSIB) (p = 0.04); and a prolonged time to initiation of NSIB (p = 0.01). There were only four patients (3%) who had >0.5+ cells in the anterior chamber. Patients with early-onset BSRC carried a higher risk for anterior segment inflammation, had a more prolonged delay to initiation of treatment with NSIB, and required a greater number of NSIBs to achieve remission.

  16. The genetic implication of scoliosis in osteogenesis imperfecta: a review

    PubMed Central

    Liu, Gang; Chen, Jia; Zhou, Yangzhong; Zuo, Yuzhi; Liu, Sen; Chen, Weisheng

    2017-01-01

    Osteogenesis imperfecta (OI) is a kind of heritable connective tissue disorder, including blue sclerae, hearing loss, skeletal dysplasia causing bone fragility and deformities. It is typically caused by collagen related gene mutations, which could lead to bone formation abnormalities. Scoliosis is one of the most common and severe spinal phenotype which has been reported in approximately 26–74.5% of all OI patients. Recent breakthroughs have suggested that OI can be divided into more than 16 types based on genetic mutations with different degrees of scoliosis. In this review, we summarize the etiology of scoliosis in OI, especially the genetic studies of different types. We aim to provide a systematic review of the genetic etiology and clinical suggestions of scoliosis in OI. PMID:29354746

  17. [Exercise therapy in the treatment of idiopathic adolescent scoliosis: Is it useful?].

    PubMed

    Porte, M; Patte, K; Dupeyron, A; Cottalorda, J

    2016-06-01

    Many practitioners, pediatricians, and general practitioners prescribe physical therapy when tracking scoliosis. However, has physical therapy alone proved its efficacy in the care of the scoliosis to slow down progression? Our purpose is to report the results of a literature review on the effectiveness of rehabilitation in idiopathic scoliosis. No current study presents sufficient scientific proof to validate the efficacy of isolated exercise therapy in scoliosis. Learned societies recognize, however, the efficacy of combining conservative therapy (brace+physiotherapy) in idiopathic scoliosis. Should we then still prescribe rehabilitation without brace treatment? Although physical therapy alone does not seem effective in treating scoliosis, it can limit potential painful phenomena and be beneficial for respiratory function. The physical therapist can also teach the teenager the classic principles of hygiene of the back. It may therefore be appropriate to prescribe physical therapy, but the principles and objectives must be explained to the patient and family in light of current evidence-based medicine. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  18. Outcome instruments to assess scoliosis surgery.

    PubMed

    Bagó, Juan; Climent, Jose Ma; Pérez-Grueso, Francisco J S; Pellisé, Ferran

    2013-03-01

    To review and summarize the current knowledge regarding the outcome measures used to evaluate scoliosis surgery. Literature review. Outcome instruments should be tested to ensure that they have adequate metric characteristics: content and construct validity, reliability, and responsiveness. In the evaluation of scoliosis, generic instruments to assess health-related quality of life (HRQL) have been used, such as the SF-36 questionnaire and the EuroQol5D instrument. Nonetheless, it is preferable to use disease-specific instruments for this purpose, such as the SRS-22 Patient Questionnaire and the quality of life profile for spinal deformities (QLPSD). More recently, these generic and disease-specific instruments have been complemented with the use of super-specific instruments; i.e., those assessing a single aspect of the condition or specific populations with the condition. The patients' perception of their trunk deformity and body image has received particular attention, and several instruments are available to evaluate these aspects, such as the Walter-Reed Visual Assessment Scale (WRVAS), the Spinal Appearance Questionnaire (SAQ), and the Trunk Appearance Perception Scale (TAPS). The impacts of brace use can also be measured with specific scales, including the Bad Sobernheim Stress Questionnaire (BSSQ) and the Brace Questionnaire (BrQ). The available instruments to evaluate the treatment for non-idiopathic scoliosis have not been sufficiently validated and analyzed. Evaluation of scoliosis treatment should include the patient's perspective, which can be obtained with the use of patient-reported outcome measures.

  19. MRI signal distribution within the intervertebral disc as a biomarker of adolescent idiopathic scoliosis and spondylolisthesis.

    PubMed

    Gervais, Julien; Périé, Delphine; Parent, Stefan; Labelle, Hubert; Aubin, Carl-Eric

    2012-12-03

    Early stages of scoliosis and spondylolisthesis entail changes in the intervertebral disc (IVD) structure and biochemistry. The current clinical use of MR T2-weighted images is limited to visual inspection. Our hypothesis is that the distribution of the MRI signal intensity within the IVD in T2-weighted images depends on the spinal pathology and on its severity. Therefore, this study aims to develop the AMRSID (analysis of MR signal intensity distribution) method to analyze the 3D distribution of the MR signal intensity within the IVD and to evaluate their sensitivity to scoliosis and spondylolisthesis and their severities. This study was realized on 79 adolescents who underwent a MRI acquisition (sagittal T2-weighted images) before their orthopedic or surgical treatment. Five groups were considered: low severity scoliosis (Cobb angle ≤50°), high severity scoliosis (Cobb angles >50°), low severity spondylolisthesis (Meyerding grades I and II), high severity spondylolisthesis (Meyerding grades III, IV and V) and control. The distribution of the MRI signal intensity within the IVD was analyzed using the descriptive statistics of histograms normalized by either cerebrospinal fluid or bone signal intensity, weighted centers and volume ratios. Differences between pathology and severity groups were assessed using one- and two-way ANOVAs. There were significant (p < 0.05) variations of indices between scoliosis, spondylolithesis and control groups and between low and high severity groups. The cerebrospinal fluid normalization was able to detect differences between healthy and pathologic IVDs whereas the bone normalization, which reflects both bone and IVD health, detected more differences between the severities of these pathologies. This study proves for the first time that changes in the intervertebral disc, non visible to the naked eye on sagittal T2-weighted MR images of the spine, can be detected from specific indices describing the distribution of the MR

  20. Early-Onset Obsessive-Compulsive Disorder: A Subgroup with a Specific Clinical and Familial Pattern?

    ERIC Educational Resources Information Center

    Chabane, Nadia; Delorme, Richard; Millet, Bruno; Mouren, Marie-Christine; Leboyer, Marion; Pauls, David

    2005-01-01

    Background: The familial nature of obsessive-compulsive disorder (OCD) has been previously demonstrated. The identification of candidate symptoms such as age at onset may help to disentangle the clinical and genetic heterogeneity of the disorder. In this study, the specificity of early-onset OCD was investigated, focusing on the effect of gender,…

  1. The characteristics of scoliosis in Prader-Willi syndrome (PWS): analysis of 58 scoliosis patients with PWS.

    PubMed

    Nakamura, Yutaka; Murakami, Nobuyuki; Iida, Takahiro; Ozeki, Satoru; Asano, Satoshi; Nohara, Yutaka; Nagai, Toshiro

    2015-01-01

    The purpose of this study was to compare the characteristics of scoliosis in Prader-Willi syndrome (PWS) patients versus idiopathic scoliosis (IS). We identified 193 PWS patients. Scoliosis was found in 58 PWS patients, 39 of whom were treated with GH. Fifty-five IS patients were consecutively selected from an outpatient clinic. We investigated 113 patients (58 PWS group, 55 IS group) followed for a minimum of 2 years. The mean age was 17.9 and 16.1 years, respectively. Deformity was measured using Lenke classification, Cobb angle, thoracic kyphosis at T2-5 and T5-12, lumbar lordosis at T12-S1, and sagittal alignment at the C7 plumb line. BMI was also recorded. According to the Lenke system, patients were classified as (PWS group/IS group): Type 1 (8/26), Type 2 (1/4), Type 3 (3/15), Type 4 (1/0), Type 5 (32/8), and Type 6 (13/2). The average Cobb angles were 32.6° in the PWS and 35.4° in the IS. No significant differences were found for the thoracic kyphosis (T2-5, T5-12), lumbar lordosis (T12-S1) or C7 plumb line between the two groups. BMI was increased in the PWS group not treated previously with GH as compared with the IS group and the PWS group with GH. Most PWS patients presented with lumbar or thoracolumbar curves (Type 5, 6), whereas IS patients typically had thoracic scoliosis (Type 1, 2, 3).

  2. Depression and Anxiety Symptoms: Onset, Developmental Course and Risk Factors during Early Childhood

    ERIC Educational Resources Information Center

    Cote, Sylvana M.; Boivin, Michel; Liu, Xuecheng; Nagin, Daniel S.; Zoccolillo, Mark; Tremblay, Richard E.

    2009-01-01

    Background: Depressive and anxiety disorders are among the top ten leading causes of disabilities. We know little, however, about the onset, developmental course and early risk factors for depressive and anxiety symptoms (DAS). Objective: Model the developmental trajectories of DAS during early childhood and to identify risk factors for atypically…

  3. Early onset of bilateral brachial plexopathy during mantle radiotherapy for Hodgkin's disease.

    PubMed

    Churn, M; Clough, V; Slater, A

    2000-01-01

    We report a case of brachial plexus neuropathy occurring in a 50-year-old man treated with standard mantle radiotherapy for early-stage Hodgkin's disease. A dose of 35 Gy in 20 fractions was given to the mantle field, following by a boost to the right side of the neck (8 Gy in four fractions). The onset of symptoms was early in the course of treatment and a gradual and almost full recovery was observed over 3 years after completion ofradiotherapy. The diagnosis was supported by electromyography. The temporal relationship of the radiotherapy and the onset of the brachial plexus neuropathy suggests a cause and effect, but this association is rarely reported after mantle radiotherapy. We review the aetiology of this condition and postulate possible mechanisms in this patient.

  4. Alertness and cognitive control: Testing the early onset hypothesis.

    PubMed

    Schneider, Darryl W

    2018-05-01

    Previous research has revealed a peculiar interaction between alertness and cognitive control in selective-attention tasks: Congruency effects are larger on alert trials (on which an alerting cue is presented briefly in advance of the imperative stimulus) than on no-alert trials, despite shorter response times (RTs) on alert trials. One explanation for this finding is the early onset hypothesis, which is based on the assumptions that increased alertness shortens stimulus-encoding time and that cognitive control involves gradually focusing attention during a trial. The author tested the hypothesis in 3 experiments by manipulating alertness and stimulus quality (which were intended to shorten and lengthen stimulus-encoding time, respectively) in an arrow-based flanker task involving congruent and incongruent stimuli. Replicating past findings, the alerting manipulation led to shorter RTs but larger congruency effects on alert trials than on no-alert trials. The stimulus-quality manipulation led to longer RTs and larger congruency effects for degraded stimuli than for intact stimuli. These results provide mixed support for the early onset hypothesis, but the author discusses how data and theory might be reconciled if stimulus quality affects stimulus-encoding time and the rate of evidence accumulation in the decision process. (PsycINFO Database Record (c) 2018 APA, all rights reserved).

  5. Fatigue-induced early onset of anticipatory postural adjustments in non-fatigued muscles: support for a centrally mediated adaptation.

    PubMed

    Strang, Adam J; Berg, William P; Hieronymus, Mathias

    2009-08-01

    Muscle fatigue has been shown to result in early onset of anticipatory postural adjustments (APAs) relative to those produced in a non-fatigued state. This adaptation is thought to reflect an attempt to preserve postural stability during a focal movement performed in a fatigued state. It remains unclear, however, whether this adaptation is of central (e.g., central nervous system motor command) or peripheral (e.g., muscle contractile properties), origin. One way to confirm that this adaptation is centrally driven is to identify fatigued-induced early APA onsets in non-fatigued muscles. In this study, APAs were obtained using a rapid bilateral reaching maneuver and recorded via surface electromyography before and after conditions of rest (n = 25) or fatigue (n = 25). Fatigue was generated using isokinetic exercise of the right leg. Results showed that fatigue-induced early APA onsets occurred in fatigued and non-fatigued muscles, confirming that fatigue-induced early APA onset is a centrally mediated adaptation.

  6. Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.

    PubMed

    Hakonen, Anna H; Isohanni, Pirjo; Paetau, Anders; Herva, Riitta; Suomalainen, Anu; Lönnqvist, Tuula

    2007-11-01

    Twinkle is a mitochondrial replicative helicase, the mutations of which have been associated with autosomal dominant progressive external ophthalmoplegia (adPEO), and recessively inherited infantile onset spinocerebellar ataxia (IOSCA). We report here a new phenotype in two siblings with compound heterozygous Twinkle mutations (A318T and Y508C), characterized by severe early onset encephalopathy and signs of liver involvement. The clinical manifestations included hypotonia, athetosis, sensory neuropathy, ataxia, hearing deficit, ophthalmoplegia, intractable epilepsy and elevation of serum transaminases. The liver showed mtDNA depletion, whereas the muscle mtDNA was only slightly affected. Alpers-Huttenlocher syndrome has previously been associated with mutations of polymerase gamma, a replicative polymerase of mtDNA. We show here that recessive mutations of the close functional partner of the polymerase, the Twinkle helicase, can also manifest as early encephalopathy with liver involvement, a phenotype reminiscent of Alpers syndrome, and are a new genetic cause underlying tissue-specific mtDNA depletion.

  7. Association of spinal deformity and pelvic tilt with gait asymmetry in adolescent idiopathic scoliosis patients: Investigation of ground reaction force.

    PubMed

    Park, Yang Sun; Lim, Young Tae; Koh, Kyung; Kim, Jong Moon; Kwon, Hyun Joon; Yang, Ji Seung; Shim, Jae Kun

    2016-07-01

    Adolescent idiopathic scoliosis is a prevalent orthopedic problem in children ages 10 to 16years. Although genetic, physiological and biomechanical factors are considered to contribute to the onset and progression of adolescent idiopathic scoliosis, the underlying mechanisms are not yet clear. The purpose of this study was to investigate the association between spinal deformity and inter-leg ground reaction force asymmetry during walking in adolescent idiopathic scoliosis patients. Fourteen patients (3 males and 11 females) participated in this study. Maximum Cobb's angle, adjusted Cobb's angle, and pelvic tilt were calculated from X-ray images. Asymmetry indices between legs were also calculated from ground reaction force magnitude and time variables from their preferred speed walking. Pearson coefficients of correlation were used to investigate associations of asymmetry indices with angle variables. Asymmetry indices of ground reaction force magnitudes positively correlated with adjusted Cobb's angle and maximum Cobb's angle mainly during the peak of braking phase, average of braking phase, while asymmetry indices of ground reaction force time variables showed no significant correlation with adjusted or maximum Cobb's angle. In contrast, asymmetry indices of ground reaction force time variables positively correlated with pelvic tilt during stance phase. We concluded that the spinal deformity of adolescent idiopathic scoliosis patients estimated using the maximum and adjusted Cobb's angles is generally associated with greater asymmetry of ground reaction force magnitudes in walking, while the pelvic tilt is associated with the greater asymmetry of ground reaction force time variables. Copyright © 2016 Elsevier Ltd. All rights reserved.

  8. Current knowledge of scoliosis in physiotherapy students trained in the United Kingdom.

    PubMed

    Black, D A Jason; Pilcher, Christine; Drake, Shawn; Maude, Erika; Glynn, David

    2017-01-01

    It has been highlighted in both Poland and the United States of America (USA) that knowledge of idiopathic scoliosis (IS) among physiotherapy students is limited with respect to the 2011 International Society on Scoliosis Orthopaedic and Rehabilitation Treatment (SOSORT) guidelines. Early detection of scoliosis and correct initial management is essential in effective care, and thus physiotherapists should be aware of the basic criteria for diagnosis and indications for treatment. The aim of this study was to evaluate the basic knowledge of IS in physiotherapy students trained in the United Kingdom (UK). A previously designed and tested 10-question survey, including knowledge of the 2011 SOSORT guidelines, was transcribed onto an online-survey platform. Questions were designed to analyse knowledge of definition, cause, development, prevalence, diagnosis, treatment and bracing of scoliosis. All UK universities offering physiotherapy degrees were invited to participate, with the programme lead of each institution asked to distribute the questionnaire to all penultimate and final year physiotherapy students (bachelor's and master's degrees). The final number of students who received the study invitation is unknown. The survey link closed after 8 weeks of data collection. Two hundred and six students, split over 12 institutions, successfully completed the questionnaire. Analysis showed that 79% of students recognised when IS is likely to develop, yet only 52% recognised that IS's aetiology is unknown. Eighty-eight percent of students incorrectly defined IS as a 2-dimensional deformity, with only 24% successfully recognising the prevalence of IS within the scoliosis population. Just 12% knew the criteria for diagnosis; however, 93% were unable to recognise the appropriate treatment approach through therapeutic exercise. Finally, 54% of students managed to identify correctly when bracing is recommended for IS. In comparison to previous studies within the USA, students in

  9. ABCC6 mutations and early onset stroke: Two cases of a typical Pseudoxanthoma Elasticum.

    PubMed

    Bertamino, Marta; Severino, Mariasavina; Grossi, Alice; Rusmini, Marta; Tortora, Domenico; Gandolfo, Carlo; Pederzoli, Silvia; Malattia, Clara; Picco, Paolo; Striano, Pasquale; Ceccherini, Isabella; Di Rocco, Maja

    2018-04-12

    Pseudoxanthoma elasticum (PXE) is a rare genetic disorder characterized by fragmented and mineralized elastic fibers in the mid-dermis of the skin, eye, digestive tract and cardiovascular system. Clinical presentation includes typical skin lesions, ocular angioid streaks, and multisystem vasculopathy. The age of onset varies considerably from infancy to old age, but the diagnosis is usually made in young adults due to frequent absence of pathognomonic skin and ocular manifestations in early childhood. We report two children with PXE presenting with isolated multisystem vasculopathy and early-onset stroke. In the first patient, diagnosis was delayed until typical dermatologic alterations appeared; in the second patient, next-generation sequencing (NGS) study led to early diagnosis and specific follow-up, underlying the crucial role in idiopathic pediatric stroke of early genetic testing using NGS-based panels. Copyright © 2018 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

  10. Progression of scoliosis in patients with spastic quadriplegia after the insertion of an intrathecal baclofen pump.

    PubMed

    Ginsburg, Glen M; Lauder, Anthony J

    2007-11-15

    association between catheter tip location or rate of Baclofen infusion on curve progression. In published data, the rate of progression of scoliosis in skeletally immature nonambulatory patients with cerebral palsy was 4.5 degrees /year. In this study, the average rate of progression of the scoliosis for the immature was 9.02 degrees /year. For the skeletally mature bed-ridden patients, the worst-case natural history progression was 4.4 degrees /year. The comparable rate of change in skeletally mature (Risser 5) nonambulatory patients (n = 6) in this study was 28.4 degrees /year. This study demonstrates a significant increase in the rate of scoliotic curve progression after ITB pump placement when compared with published natural history data. The evidence of the beneficial effects of ITB on spasticity has been confirmed, and as larger, prospective randomized studies are conducted, the authors think that support for continued use of this treatment will increase. However, early bracing and spinal fusion may be warranted to prevent significant increases in spinal deformity if scoliosis is anticipated to progress more than 10 degrees /yr for patients with spastic quadriplegia and ITB pump. The authors are now performing spinal fusions for curves that exceed 40 degrees to 50 degrees in the presence of an ITB pump as recommended by previous reviews of scoliosis and accompanying quadriplegia.

  11. TBX6 Null Variants and a Common Hypomorphic Allele in Congenital Scoliosis

    PubMed Central

    Wu, N.; Ming, X.; Xiao, J.; Wu, Z.; Chen, X.; Shinawi, M.; Shen, Y.; Yu, G.; Liu, J.; Xie, H.; Gucev, Z.S.; Liu, S.; Yang, N.; Al-Kateb, H.; Chen, J.; Zhang, Jian; Hauser, N.; Zhang, T.; Tasic, V.; Liu, P.; Su, X.; Pan, X.; Liu, C.; Wang, L.; Shen, Joseph; Shen, Jianxiong; Chen, Y.; Zhang, T.; Zhang, Jianguo; Choy, K.W.; Wang, Jun; Wang, Q.; Li, S.; Zhou, W.; Guo, J.; Wang, Y.; Zhang, C.; Zhao, H.; An, Y.; Zhao, Y.; Wang, Jiucun; Liu, Z.; Zuo, Y.; Tian, Y.; Weng, X.; Sutton, V.R.; Wang, H.; Ming, Y.; Kulkarni, S.; Zhong, T.P.; Giampietro, P.F.; Dunwoodie, S.L.; Cheung, S.W.; Zhang, X.; Jin, L.; Lupski, J.R.; Qiu, G.; Zhang, F.

    2015-01-01

    BACKGROUND Congenital scoliosis is a common type of vertebral malformation. Genetic susceptibility has been implicated in congenital scoliosis. METHODS We evaluated 161 Han Chinese persons with sporadic congenital scoliosis, 166 Han Chinese controls, and 2 pedigrees, family members of which had a 16p11.2 deletion, using comparative genomic hybridization, quantitative polymerase-chain-reaction analysis, and DNA sequencing. We carried out tests of replication using an additional series of 76 Han Chinese persons with congenital scoliosis and a multi-center series of 42 persons with 16p11.2 deletions. RESULTS We identified a total of 17 heterozygous TBX6 null mutations in the 161 persons with sporadic congenital scoliosis (11%); we did not observe any null mutations in TBX6 in 166 controls (P<3.8×10−6). These null alleles include copy-number variants (12 instances of a 16p11.2 deletion affecting TBX6) and single-nucleotide variants (1 nonsense and 4 frame-shift mutations). However, the discordant intrafamilial phenotypes of 16p11.2 deletion carriers suggest that heterozygous TBX6 null mutation is insufficient to cause congenital scoliosis. We went on to identify a common TBX6 haplotype as the second risk allele in all 17 carriers of TBX6 null mutations (P<1.1×10−6). Replication studies involving additional persons with congenital scoliosis who carried a deletion affecting TBX6 confirmed this compound inheritance model. In vitro functional assays suggested that the risk haplotype is a hypomorphic allele. Hemivertebrae are characteristic of TBX6-associated congenital scoliosis. CONCLUSIONS Compound inheritance of a rare null mutation and a hypomorphic allele of TBX6 accounted for up to 11% of congenital scoliosis cases in the series that we analyzed. PMID:25564734

  12. Congenital scoliosis - presentation of three severe cases treated conservatively.

    PubMed

    Weiss, H-R

    2008-01-01

    In view of the very limited data about conservative treatment of patients with congenital scoliosis (CS) available, early surgery is suggested already in mild cases with formation failures in the first three years of life. It is common sense that patients with failures of segmentation will not benefit from conservative treatment at all and the same applies to failures of formation with curves of >50 degrees in infancy. Two patients with rib synostosis denied surgery before entering the pubertal growth spurt. These patients have been treated conservatively with braces and Scoliosis In-Patient Rehabilitation (SIR) and now are beyond the pubertal growth spurt. One patient with a formation failure and a curve of >50 degrees lumbar has been treated with the help of braces and physiotherapy from 1.6 years on and is still under treatment now at the age of 15 years. Severe decompensation was prevented in the two patients with failure of segmentation, however a severe thoracic deformity is evident with underdeveloped lung function and severe restrictive ventilation disorder. The patient with failure of formation is well developed, now without cosmetic or physical complaints although his curve progressed at the end of the growth spurt due to final mal-compliance. Failures of segmentation should be advised to have surgery before entering the pubertal growth spurt. In case they deny, conservative treatment can at least in part be beneficial. For patients with failures of formation conservative treatment should be suggested in the first place because long-term outcomes of early surgery beyond pubertal growth spurt are not yet revealed.

  13. [Knowledge of Andalusian pediatricians and parents about early-onset tooth decay].

    PubMed

    González, E; Pérez-Hinojosa, S; Alarcón, J A; Peñalver, M A

    2015-01-01

    To determine the level of knowledge of pediatricians and parents from Andalucía (southern Spain) about early-onset tooth decay, and to assess if pediatricians provide information to parents about pediatric oral care and visits to the pediatric dentist. A random sample of 113 pediatricians and 112 parents with children under 3 years of age received an anonymous questionnaire comprising 14 items for pediatricians and 16 items for parents, grouped into five blocks: visits to the dentist, oral hygiene, caries, nutritional habits, and treatment of caries. The chi-squared test was used to assess differences between groups. Pediatricians showed deficiencies in their knowledge about visits to the dentist and treatment of caries, however their level of knowledge on oral hygiene, tooth decay and nutritional habits were adequate. Parents showed a low level of knowledge in all aspects of the study, mainly about the treatment of tooth decay. There were no significant differences between pediatricians and parents in the knowledge about visits to the dentist, however pediatricians had more knowledge than the parents about hygiene, tooth decay, nutritional habits and treatment (P<0.001). Most of the parents indicated that pediatricians did not provide them detailed information on oral care, and about the possibility of visiting a pediatric dentist. Andalusian pediatricians should improve their knowledge about early-onset tooth decay, and provide more information to parents about the oral care and the possibility of visiting a pediatric dentist. Parents have a very low level of knowledge about early-onset tooth decay, and particularly about treatment. Copyright © 2013 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.

  14. Outcomes of subsequent pregnancy after first pregnancy with early-onset preeclampsia.

    PubMed

    van Rijn, Bas B; Hoeks, Lette B; Bots, Michiel L; Franx, Arie; Bruinse, Hein W

    2006-09-01

    The aim of this study was to report outcome of subsequent pregnancy after early-onset preeclampsia in first pregnancy, and to evaluate potential risk factors for recurrence of preeclampsia and preterm delivery. Reproductive follow-up data were obtained for women with a history of early-onset preeclampsia, resulting in delivery before 34 weeks of gestation at the University Medical Center Utrecht, The Netherlands, between July 1993 and September 2002. The relative contributions of demographic data, outcome variables of first pregnancy, and common thrombophilias to the recurrence risk of preeclampsia and preterm delivery in subsequent pregnancy, were estimated by Cox proportional hazard models. Subsequent pregnancy outcome data were available for 120 women. Overall, preeclampsia reoccurred in the second pregnancy in 30 women (25%). However, 6 women delivered before 34 weeks of gestation (5%), 20 women between 34 and 37 weeks of gestation (17%), and 94 women after 37 weeks of gestation (78%). Forty-one women (34%) had an uneventful pregnancy. Recurrence rates for preeclampsia or preterm delivery were not related to severity of first pregnancy complications, including delivery before 28 weeks of gestation, occurrence of hemolysis, elevated liver enzymes, and low platelet count syndrome, small-for-gestational age infants, and to hereditary or acquired thrombophilias. Chronic hypertension was related to a higher recurrence risk of preeclampsia in the second pregnancy (hazard ratio 2.1, 95% CI 1.0-4.4), and smoking was related to a higher recurrence risk of preterm birth (hazard ratio 2.4, 95% CI 1.1-5.6). Outcomes of subsequent pregnancy after first pregnancy with early-onset preeclampsia is generally favorable.

  15. Gene expression profiling reveals different molecular patterns in G-protein coupled receptor signaling pathways between early- and late-onset preeclampsia.

    PubMed

    Liang, Mengmeng; Niu, Jianmin; Zhang, Liang; Deng, Hua; Ma, Jian; Zhou, Weiping; Duan, Dongmei; Zhou, Yuheng; Xu, Huikun; Chen, Longding

    2016-04-01

    Early-onset preeclampsia and late-onset preeclampsia have been regarded as two different phenotypes with heterogeneous manifestations; To gain insights into the pathogenesis of the two traits, we analyzed the gene expression profiles in preeclamptic placentas. A whole genome-wide microarray was used to determine the gene expression profiles in placental tissues from patients with early-onset (n = 7; <34 weeks), and late-onset (n = 8; >36 weeks) preeclampsia and their controls who delivered preterm (n = 5; <34 weeks) or at term (n = 5; >36 weeks). Genes were termed differentially expressed if they showed a fold-change ≥ 2 and q-value < 0.05. Quantitative real-time reverse transcriptase PCR was used to verify the results. Western blotting was performed to verify the expressions of secreted genes at the protein level. Six hundred twenty-seven genes were differentially expressed in early-compared with late-onset preeclampsia (177 genes were up-regulated and 450 were down-regulated). Gene ontology analysis identified significant alterations in several biological processes; the top two were immune response and cell surface receptor linked signal transduction. Among the cell surface receptor linked signal transduction-related, differentially expressed genes, those involved in the G-protein coupled receptor protein signaling pathway were significantly enriched. G-protein coupled receptor signaling pathway related genes, such as GPR124 and MRGPRF, were both found to be down-regulated in early-onset preeclampsia. The results were consistent with those of western blotting that the abundance of GPR124 was lower in early-onset compared with late-onset preeclampsia. The different gene expression profiles reflect the different levels of transcription regulation between the two conditions and supported the hypothesis that they are separate disease entities. Moreover, the G-protein coupled receptor signaling pathway related genes may contribute to the mechanism underlying early

  16. New method of scoliosis assessment: preliminary results using computerized photogrammetry.

    PubMed

    Aroeira, Rozilene Maria Cota; Leal, Jefferson Soares; de Melo Pertence, Antônio Eustáquio

    2011-09-01

    A new method for nonradiographic evaluation of scoliosis was independently compared with the Cobb radiographic method, for the quantification of scoliotic curvature. To develop a protocol for computerized photogrammetry, as a nonradiographic method, for the quantification of scoliosis, and to mathematically relate this proposed method with the Cobb radiographic method. Repeated exposure to radiation of children can be harmful to their health. Nevertheless, no nonradiographic method until now proposed has gained popularity as a routine method for evaluation, mainly due to a low correspondence to the Cobb radiographic method. Patients undergoing standing posteroanterior full-length spine radiographs, who were willing to participate in this study, were submitted to dorsal digital photography in the orthostatic position with special surface markers over the spinous process, specifically the vertebrae C7 to L5. The radiographic and photographic images were sent separately for independent analysis to two examiners, trained in quantification of scoliosis for the types of images received. The scoliosis curvature angles obtained through computerized photogrammetry (the new method) were compared to those obtained through the Cobb radiographic method. Sixteen individuals were evaluated (14 female and 2 male). All presented idiopathic scoliosis, and were between 21.4 ± 6.1 years of age; 52.9 ± 5.8 kg in weight; 1.63 ± 0.05 m in height, with a body mass index of 19.8 ± 0.2. There was no statistically significant difference between the scoliosis angle measurements obtained in the comparative analysis of both methods, and a mathematical relationship was formulated between both methods. The preliminary results presented demonstrate equivalence between the two methods. More studies are needed to firmly assess the potential of this new method as a coadjuvant tool in the routine following of scoliosis treatment.

  17. Polycystic ovary syndrome and early-onset preeclampsia: reproductive manifestations of increased cardiovascular risk.

    PubMed

    Veltman-Verhulst, Susanne M; van Rijn, Bas B; Westerveld, H Egbertine; Franx, Arie; Bruinse, Hein W; Fauser, Bart C J M; Goverde, Angelique J

    2010-01-01

    Primary prevention of cardiovascular disease (CVD) in women is a major healthcare issue. Detection of premenopausal women with increased risk of CVD could enhance prevention strategies and reduce first event-related morbidity and mortality. In this study, we argue that an unfavorable metabolic constitution in women may present itself early in life as a reproductive complication, such as polycystic ovary syndrome (PCOS) and preeclampsia. We evaluated the cardiovascular risk of women with a history of early-onset preeclampsia and women with PCOS and assessed their need for implementation of early risk factor-reduction strategies. We performed a standardized evaluation of 240 women with a history of early-onset preeclampsia and 456 women diagnosed with PCOS for established major CVD risk factors. Metabolic syndrome characteristics were analyzed per body mass index category. Mean age was 30.6 and 29.0 years for women with preeclampsia and PCOS, respectively. High percentages of metabolic syndrome were found in both groups (preeclampsia group, 14.6%; and PCOS group, 18.4%), with an incidence of greater than 50% in both groups of women if body mass index was greater than 30 kg/m. Overall, more than 90% of the women qualified for either lifestyle or medical intervention according to the American Heart Association guideline for CVD prevention in women. Women with PCOS and early-onset preeclampsia already show an unfavorable cardiovascular risk profile with high need for lifestyle or medical intervention at a young age. We therefore recommend an active role of the gynecologist in routine screening and follow-up of women with reproductive conditions linked to future cardiovascular risk.

  18. Novel CDKL5 Mutations in Czech Patients with Phenotypes of Atypical Rett Syndrome and Early-Onset Epileptic Encephalopathy.

    PubMed

    Záhoráková, D; Langová, M; Brožová, K; Laštůvková, J; Kalina, Z; Rennerová, L; Martásek, P

    2016-01-01

    The X-linked CDKL5 gene, which encodes cyclin-dependent kinase-like 5 protein, has been implicated in early-onset encephalopathy and atypical Rett syndrome with early-onset seizures. The CDKL5 protein is a kinase required for neuronal development and morphogenesis, but its precise functions are still largely unexplored. Individuals with CDKL5 mutations present with severe global developmental delay, intractable epilepsy, and Rett-like features. A clear genotype-phenotype correlation has not been established due to an insufficient number of reported cases. The aim of this study was to analyse the CDKL5 gene in Czech patients with early-onset seizures and Rett-like features. We performed mutation screening in a cohort of 83 individuals using high-resolution melting analysis, DNA sequencing and multiplex ligation- dependent probe amplification. Molecular analyses revealed heterozygous pathogenic mutations in three girls with severe intellectual disability and intractable epilepsy starting at the age of two months. All three identified mutations, c.637G>A, c.902_977+29del105, and c.1757_1758delCT, are novel, thus significantly extending the growing spectrum of known pathogenic CDKL5 sequence variants. Our results support the importance of genetic testing of the CDKL5 gene in patients with early-onset epileptic encephalopathy and Rett-like features with early-onset seizures. This is the first study referring to molecular defects of CDKL5 in Czech cases.

  19. Scoliosis may increase the risk of recurrence of lumbar disc herniation after microdiscectomy.

    PubMed

    Chang, Hsuan-Kan; Chang, Huang-Chou; Wu, Jau-Ching; Tu, Tsung-Hsi; Fay, Li-Yu; Chang, Peng-Yuan; Wu, Ching-Lan; Huang, Wen-Cheng; Cheng, Henrich

    2016-04-01

    The aim of this paper was to investigate the risk of recurrence of lumbar disc herniation (LDH) in patients with scoliosis who underwent microdiscectomy. A series of consecutive patients who underwent microdiscectomy for LDH was retrospectively reviewed. The inclusion criteria were young adults younger than 40 years who received microdiscectomy for symptomatic 1-level LDH. An exclusion criterion was any previous spinal surgery, including fusion or correction of scoliosis. The patients were divided into 2 groups: those with scoliosis and those without scoliosis. The demographic data in the 2 groups were similar. All medical records and clinical and radiological evaluations were reviewed. A total of 58 patients who underwent 1-level microdiscectomy for LDH were analyzed. During the mean follow-up of 24.6 months, 6 patients (10.3%) experienced a recurrence of LDH with variable symptoms. The recurrence rate was significantly higher among the scoliosis group than the nonscoliosis group (33.3% vs. 2.3%, p = 0.001). Furthermore, the recurrence-free interval in the scoliosis group was short. Young adults (< 40 years) with uncorrected scoliosis are at higher risk of recurrent LDH after microdiscectomy.

  20. Scoliosis related information on the internet in China: can patients benefit from this information?

    PubMed

    Bao, Hongda; Zhu, Feng; Wang, Fei; Liu, Zhen; Bao, Mike H; He, Shouyu; Zhu, Zezhang; Qiu, Yong

    2015-01-01

    There has been an increasing popularity of searching health related information online in recent years. Despite that considerable amount of scoliosis patients have shown interest in obtaining scoliosis information through Internet, previous studies have demonstrated poor quality of online information. However, this conclusion may vary depending on region and culture. Since China has a restricted Internet access outside of its borders, the aim of this study is to evaluate the quality of scoliosis information available online using recognized scoring systems and to analyze the Internet as a source of health information in China. A survey-based questionnaire was distributed to 280 respondents at outpatient clinics. Information on demographics and Internet use was collected. Binary logistic analysis was performed to identify possible predictors for the use of Internet. In addition, the top 60 scoliosis related websites assessed through 4 search engines were reviewed by a surgeon and the quality of online information was evaluated using DISCERN score and JAMA benchmark. Use of the Internet as a source for scoliosis related information was confirmed in 87.8% of the respondents. College education, Internet access at home and urban residence were identified as potential predictors for Internet use. However, the quality of online scoliosis related information was poor with an average DISCERN score of 27.9±11.7 and may be misleading for scoliosis patients. The study outlines the profile of scoliosis patients who use the Internet as a source of health information. It was shown that 87.8% of the scoliosis patients in outpatient clinics have searched for scoliosis related information on Internet. Urban patients, higher education and Internet access at home were identified as potential predictors for Internet search. However, the overall quality of online scoliosis related information was poor and confusing. Physician based websites seemed to contain more reliable information.

  1. Definition, clinical profile, microbiological spectrum, and prognostic factors of early-onset prosthetic valve endocarditis.

    PubMed

    López, Javier; Revilla, Ana; Vilacosta, Isidre; Villacorta, Eduardo; González-Juanatey, Carlos; Gómez, Itziar; Rollán, María Jesús; San Román, José Alberto

    2007-03-01

    There is no agreement in the best cutoff time to distinguish between early- and late- onset prosthetic valve endocarditis (PVE). Our objectives are to define early-onset PVE according to the microbiological spectrum and to analyse the profile and short-term prognosis of this entity. The microbiological profile of 172 non-drug users, who were patients with PVE, were compared according to the time elapsed from surgery among 640 endocarditis diagnosed between 1996 and 2004. There were no differences in the microbiological profile of patients with PVE occurred within 2 months of valve replacement and those accounting between 2 and 12 months. The proportion of coagulase-negative Staphylococci (CNS) was higher during the first year post-intervention (37 vs. 18%, P = 0.005) and Streptococci viridans were more common after 1 year (18 vs. 1%, P = 0.001). The percentage of methicilin-resistant CNS strains was higher before 1 year (77 vs. 30%, P = 0.004). Early-onset PVE represented 38% of all episodes of PVE, CNS being the most frequent isolated microorganisms (37%), most of them methicilin resistant (77%). In-hospital mortality of patients who needed urgent surgery was 46% and elective surgery 25%. Overall, in-hospital mortality was 38% and no differences were seen between surgical and medical groups (32 vs. 45%, P = 0.30). Periannular complications were associated with higher in-hospital mortality (60 vs. 27%, P = 0.007). According to the microbiological profile, the most appropriate cutoff time to distinguish between early- and late-onset PVE was 1 year. Methicilin-resistant CNS are the most frequent pathogens and periannular complications, the only risk factor for in-hospital mortality.

  2. Psychiatric comorbidities of adults with early- and late-onset attention-deficit/hyperactivity disorder.

    PubMed

    Lin, Yu-Ju; Yang, Li-Kuang; Gau, Susan Shur-Fen

    2016-06-01

    We evaluated the psychiatric comorbidities in adults who were diagnosed with Diagnostic and Statistical Manual of Mental disorders, 5th edition attention-deficit/hyperactivity disorder as a function of recalled symptom onset before and after the age of 7 years and whether the childhood attention-deficit/hyperactivity disorder symptoms were associated with psychiatric comorbidities. In all, 214 adults who were diagnosed with Diagnostic and Statistical Manual of Mental disorders, 5th edition attention-deficit/hyperactivity disorder and 174 non-attention-deficit/hyperactivity disorder controls (aged 17-40 years) received psychiatric interviews to confirm their previous and current attention-deficit/hyperactivity disorder status and other psychiatric diagnoses. Demographics and risks of lifetime psychiatric disorders were compared among three groups: (1) attention-deficit/hyperactivity disorder, onset <7 years (early-onset); (2) attention-deficit/hyperactivity disorder, onset between 7 and 12 years (late-onset) and (3) non-attention-deficit/hyperactivity disorder controls. We also tested the effects of attention-deficit/hyperactivity disorder symptoms on the risk of later psychiatric comorbidities by Cox regression analyses. Regardless of the age of onset, attention-deficit/hyperactivity disorder was significantly associated with a wide range of psychiatric comorbidities. There were similar comorbid patterns between early- and late-onset attention-deficit/hyperactivity disorder. Regardless of attention-deficit/hyperactivity disorder diagnosis, increased severity of attention-deficit/hyperactivity disorder symptoms was associated with higher risks of oppositional defiant disorder, conduct disorder, dysthymia and sleep disorder but not major depression, which was associated with the attention-deficit/hyperactivity disorder diagnosis. Our findings suggest that elevating the threshold of age of onset to 12 years in Diagnostic and Statistical Manual of Mental

  3. Early-onset Alzheimer's disease: nonamnestic subtypes and type 2 AD.

    PubMed

    Mendez, Mario F

    2012-11-01

    Patients with Alzheimer's disease (AD), the most prevalent neurodegenerative dementia, are usually elderly; however, ∼4-5% develop early-onset AD (EOAD) with onset before age 65. Most EOAD is sporadic, but about 5% of patients with EOAD have an autosomal dominant mutation such as Presenilin 1, Presenilin 2, or alterations in the Amyloid Precursor Protein gene. Although most Alzheimer's research has concentrated on older, late-onset AD (LOAD), there is much recent interest and research in EOAD. These recent studies indicate that EOAD is a heterogeneous disorder with significant differences from LOAD. From 22-64% of EOAD patients have a predominant nonamnestic syndrome presenting with deficits in language, visuospatial abilities, praxis, or other non-memory cognition. These nonamnestic patients may differ in several ways from the usual memory or amnestic patients. Patients with nonamnestic EOAD compared to typical amnestic AD have a more aggressive course, lack the apolipoprotein Eɛ4 (APOE ɛ4) susceptibility gene for AD, and have a focus and early involvement of non-hippocampal areas of brain, particularly parietal neocortex. These differences in the EOAD subtypes indicate differences in the underlying amyloid cascade, the prevailing pathophysiological theory for the development of AD. Together the results of recent studies suggest that nonamnestic subtypes of EOAD constitute a Type 2 AD distinct from the usual, typical disorder. In sum, the study of EOAD can reveal much about the clinical heterogeneity, predisposing factors, and neurobiology of this disease. Copyright © 2012 IMSS. Published by Elsevier Inc. All rights reserved.

  4. Germline Mutations of Inhibins in Early-Onset Ovarian Epithelial Tumors

    PubMed Central

    Tournier, Isabelle; Marlin, Régine; Walton, Kelly; Charbonnier, Françoise; Coutant, Sophie; Théry, Jean-Christophe; Charbonnier, Camille; Spurrell, Cailyn; Vezain, Myriam; Ippolito, Lorena; Bougeard, Gaëlle; Roman, Horace; Tinat, Julie; Sabourin, Jean-Christophe; Stoppa-Lyonnet, Dominique; Caron, Olivier; Bressac-de Paillerets, Brigitte; Vaur, Dominique; King, Mary-Claire; Harrison, Craig; Frebourg, Thierry

    2014-01-01

    To identify novel genetic bases of early-onset epithelial ovarian tumors, we used the trio exome sequencing strategy in a patient without familial history of cancer who presented metastatic serous ovarian adenocarcinomas at 21 years of age. We identified a single de novo mutation (c.1157A>G/p.Asn386Ser) within the INHBA gene encoding the βA-subunit of inhibins/activins, which play a key role in ovarian development. In vitro, this mutation alters the ratio of secreted activins and inhibins. In a second patient with early-onset serous borderline papillary cystadenoma, we identified an unreported germline mutation (c.179G>T/p.Arg60Leu) of the INHA gene encoding the α-subunit, the partner of the βA-subunit. This mutation also alters the secreted activin/inhibin ratio, by disrupting both inhibin A and inhibin B biosynthesis. In a cohort of 62 cases, we detected an additional unreported germline mutation of the INHBA gene (c.839G>A/p.Gly280Glu). Our results strongly suggest that inhibin mutations contribute to the genetic determinism of epithelial ovarian tumors. PMID:24302632

  5. Early-Onset Multiple Sclerosis in Isfahan, Iran: Report of the Demographic and Clinical Features of 221 Patients.

    PubMed

    Etemadifar, Masoud; Nourian, Sayed-Mohammadamin; Nourian, Niloofaralsadat; Abtahi, Seyed-Hossein; Sayahi, Farnaz; Saraf, Zahra; Fereidan-Esfahani, Mahboobeh

    2016-06-01

    It is estimated that early-onset multiple sclerosis multiple sclerosis (early-onset multiple sclerosis) approximately incorporates 3-5% of the multiple sclerosis population. In this report on early-onset multiple sclerosis, the authors aimed to define demographic, clinical and imaging features in a case-series of true-childhood multiple sclerosis and to compare its characteristics with juvenile multiple sclerosis. The authors inspected the records of multiple sclerosis patients who were registered by Isfahan MS Society. Clinical and demographic data of children with less than 16 years of age were reviewed retrospectively. Out of 4536 multiple sclerosis patients referred to the authors' center, 221 patients (4.8%) had multiple sclerosis starting at the age of 16 or less (11 true-childhood multiple sclerosis vs 210 juvenile-onset multiple sclerosis); the female to male ratio was 4.81:1. In the mean follow-up period of 6.2 years, 22 patients (10.5%) had positive family history of multiple sclerosis, 196 (88.6%) patients were classified as relapsing-remitting multiple sclerosis, the mean (± SD Expanded Disability Status Scale) was 1.5 ± 1.1 at the last evaluation. The most common initial presentation was optic nerve involvement (36.1%) and cerebellar sign and symptoms (14.6%). In all, 13 patients (5.8%) had experienced seizure in the course of multiple sclerosis. This study indicated that early-onset multiple sclerosis is not rare condition and overwhelmingly affects girls even at prepubertal onset. Physicians should consider multiple sclerosis in suspicious pediatric cases. © The Author(s) 2016.

  6. Profile of cognitive deficits and associations with depressive symptoms and intelligence in chronic early-onset schizophrenia patients.

    PubMed

    Jepsen, Jens Richardt Møllegaard; Fagerlund, Birgitte; Pagsberg, Anne Katrine; Christensen, Anne Marie Raaberg; Nordentoft, Merete; Mortensen, Erik Lykke

    2013-10-01

    Cognitive deficits in several domains have been demonstrated in early-onset schizophrenia patients but their profile and relation to depressive symptoms and intelligence need further characterization. The purpose was to characterize the profile of cognitive deficits in chronic, early-onset schizophrenia patients, assess the potential associations with depressive symptom severity, and examine whether cognitive deficits within several domains reflect intelligence impairments. This study compared attention, visual-construction, aspects of visual and verbal memory, and executive functions in chronic, early-onset schizophrenia patients (mean age = 20.7 years) (N = 18) and healthy controls (N = 38). Schizophrenia diagnoses were established at the time of the patients' first clinical presentation during childhood or adolescence and were confirmed five years later. In the chronic phase of early-onset schizophrenia, significant deficits were observed in all specific cognitive functions. The profile of cognitive deficits was jagged, and visual-construction, attention, and one aspect of verbal memory (verbal stories recall) were differentially impaired. Deficits of visual recall, visual recognition, and executive functions were accounted for by deficits in intelligence, while this was not the case for deficits of verbal recall of stories or attention. No significant associations were observed between the severity of cognitive deficits and that of depressive symptoms. Chronic, early-onset schizophrenia is characterized by a broad and jagged profile of cognitive deficits. Deficits of attention and verbal recall of stories appear not to be accounted for by deficits in intelligence, and the severity of cognitive deficits seems independent from that of depressive symptoms. © 2013 The Scandinavian Psychological Associations.

  7. Study on Treatment with Respect to Idiopathic Scoliosis

    NASA Astrophysics Data System (ADS)

    Takeuchi, Kenzen; Azegami, Hideyuki; Murachi, Shunji; Kitoh, Junzoh; Ishida, Yoshito; Kawakami, Noriaki; Makino, Mitsunori

    A hypothesis that the thoracic idiopathic scoliosis is buckling phenomenon of the fourth mode induced by the growth of thoracic vertebral bodies was presented in the previous work by the authors using numerical simulations with finite element model of the spine. If the hypothesis is acceptable, sensitivity function with respect to the critical growth of thoracic vertebrae on the maximization problem of buckling load with the fourth buckling mode gives us useful information to improve and develop treatments for the idiopathic scoliosis. The numerical results analyzed by the finite element method demonstrated that the sensitivity function is high at the articular capsules of the intervertebral joints, the intervertebral disks, the costotransverse joints and the constovertebral joints around the apex of the curvature in the case of the thoracic idiopathic scoliosis.

  8. The top view for analysis of scoliosis progression

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    De Smet, A.A.; Tarlton, M.A.; Cook, L.T.

    1983-05-01

    Using computerized spinal analysis, a new top view was developed that displays the spine as if the observer were above and looking down on the patient. Serial top views were obtained of 12 patients with idiopathic scoliosis. In five patients with clinically stable curves, the top views showed no change. One patient with an enlaring rib hump was seen on the top view to have progressive kyphosis but stable scoliosis. Six patients with progressive scoliosis all demonstrated collapse of the thoracic curve in the anteroposterior direction. Five of these six patients had associated lumbar curves. Three lumbar curves demonstrated collapsemore » in the anteroposterior direction similar to the collapse of the thoracic curves, and the other two curves appeared elongated in the anteroposterior direction.« less

  9. Evaluation of intrapartum antibiotic prophylaxis for the prevention of early-onset group B streptococcal infection.

    PubMed

    Sakata, Hiroshi

    2012-12-01

    We retrospectively assessed the medical records of pregnant women who delivered at Asahikawa Kosei Hospital during a period of 3 years between January 2009 and December 2011 and their neonates. Our prophylactic measures against group B Streptococcus (GBS) infection are based on the Japanese guidelines. More specifically, we performed screening by examining bacterial cultures of vaginal-perianal swabs from pregnant women between gestational weeks 33 and 37. Then, sulbactam/ampicillin (SBT/ABPC) was given at a dose of 1.5 g through a drip intravenous infusion at delivery if pregnant women were screened positive for GBS. For neonates born to GBS carrier women, bacterial cultures of pharyngeal swabs, vernix caseosa, stool, and gastric juice were performed at birth. There were 2,399 deliveries and 2,499 births at our hospital. In 169 of the deliveries (175 of the births), GBS was isolated from specimens obtained from gestational weeks 33-37. According to delivery mode, there were 42 cases of cesarean section (45 births) and 127 cases of vaginal delivery (130 births). The GBS-positive neonates accounted for 4.1 % of all deliveries in pregnant women who tested positive for GBS at gestational weeks 33-37. In neonates born by vaginal delivery, the GBS-positive rate was 5.5 %. Of the 2,499 neonates born at our hospital during a period of 3 years, early-onset GBS infection occurred in 1 neonate. The incidence of early-onset GBS infection was 0.40 per 1,000 live births. From 1997 to 2001 (routine GBS screening of mothers was not performed), there were 2,097 deliveries and 2,166 births. Early-onset GBS infection occurred in 1 neonate during this period; thus, the incidence of early-onset GBS infection was 0.46 per 1,000 live births. There were no significant differences in the two periods. The present prophylactic measures such as screening of maternal GBS carriers and intrapartum antibiotic administration are inadequate to decrease the occurrence of early-onset GBS

  10. New Predictive Model at 11+0 to 13+6 Gestational Weeks for Early-Onset Preeclampsia With Fetal Growth Restriction.

    PubMed

    Chang, Ying; Chen, Xu; Cui, Hong-Yan; Li, Xing; Xu, Ya-Ling

    2017-05-01

    The aim of the present study was to determine a predictive model for early-onset preeclampsia with fetal growth restriction (FGR) to be used at 11 +0 to 13 +6 gestational weeks, by combining the maternal serum level of pregnancy-associated plasma protein-A (PAPP-A), placental growth factor (PLGF), placental protein 13 (PP13), soluble endoglin (sEng), mean arterial pressure (MAP), and uterine artery Doppler. This was a retrospective cohort study of 4453 pregnant women. Uterine artery Doppler examination was conducted in the first trimester. Maternal serum PAPP-A, PLGF, PP13, and sEng were measured. Mean arterial pressure was obtained. Women were classified as with/without early-onset preeclampsia, and women with preeclampsia were classified as with/without FGR. Receiver operating characteristic analysis was performed to determine the value of the model. There were 30 and 32 pregnant women with early-onset preeclampsia with and without FGR. The diagnosis rate of early-onset preeclampsia with FGR was 67.4% using the predictive model when the false positive rate was set at 5% and 73.2% when the false positive rate was 10%. The predictive model (MAP, uterine artery Doppler measurements, and serum biomarkers) had some predictive value for the early diagnosis (11 +0 to 13 +6 gestational weeks) of early-onset preeclampsia with FGR.

  11. Premature adrenarche: novel lessons from early onset androgen excess.

    PubMed

    Idkowiak, Jan; Lavery, Gareth G; Dhir, Vivek; Barrett, Timothy G; Stewart, Paul M; Krone, Nils; Arlt, Wiebke

    2011-08-01

    Adrenarche reflects the maturation of the adrenal zona reticularis resulting in increased secretion of the adrenal androgen precursor DHEA and its sulphate ester DHEAS. Premature adrenarche (PA) is defined by increased levels of DHEA and DHEAS before the age of 8 years in girls and 9 years in boys and the concurrent presence of signs of androgen action including adult-type body odour, oily skin and hair and pubic hair growth. PA is distinct from precocious puberty, which manifests with the development of secondary sexual characteristics including testicular growth and breast development. Idiopathic PA (IPA) has long been considered an extreme of normal variation, but emerging evidence links IPA to an increased risk of developing the metabolic syndrome (MS) and thus ultimately cardiovascular morbidity. Areas of controversy include the question whether IPA in girls is associated with a higher rate of progression to the polycystic ovary syndrome (PCOS) and whether low birth weight increases the risk of developing IPA. The recent discoveries of two novel monogenic causes of early onset androgen excess, apparent cortisone reductase deficiency and apparent DHEA sulphotransferase deficiency, support the notion that PA may represent a forerunner condition for PCOS. Future research including carefully designed longitudinal studies is required to address the apparent link between early onset androgen excess and the development of insulin resistance and the MS.

  12. Effects of comorbidity and early age of onset in young people with Bipolar Disorder on self harming behaviour and suicide attempts.

    PubMed

    Moor, Stephanie; Crowe, Marie; Luty, Sue; Carter, Janet; Joyce, Peter R

    2012-02-01

    The age of the first episode of illness in Bipolar Disorder has been shown to be an important predictor of outcome with early onset, particularly onset before puberty, associated with greater comorbidity, a poorer quality of life and greatest impairment in functioning. Baseline data from a psychotherapy study was used to examine the prevalence of other comorbid psychiatric conditions and the impact of onset at an early age on both self harming behaviour and suicide attempts in young people with Bipolar Disorder. This study of 100 adolescents and young adults (aged 15-36 years) with Bipolar Disorder showed that comorbid conditions were very common, even at the start of their bipolar illness. Comorbidity increased as the age of onset decreased with very early onset (<13 years) patients bearing the greatest burden of disease. Greater comorbidity also significantly increased the risk of having self harmed and attempted suicide with high lethal intent. Self harming behaviour was predicted by having a lifetime diagnoses of Borderline Personality Disorder and Panic Disorder along with an early age of onset of Bipolar Disorder. In contrast, previous suicide attempts were predicted by greater comorbidity and not by very early (<13 years) age of onset. Copyright © 2011 Elsevier B.V. All rights reserved.

  13. Chromium ion release from stainless steel pediatric scoliosis instrumentation.

    PubMed

    Cundy, Thomas P; Delaney, Christopher L; Rackham, Matthew D; Antoniou, Georgia; Oakley, Andrew P; Freeman, Brian J C; Sutherland, Leanne M; Cundy, Peter J

    2010-04-20

    Case-control study. To determine whether serum metal ion levels and erythrocyte chromium levels in adolescents with stainless steel spinal instrumentation are elevated when compared with 2 control groups. Instrumented spinal arthrodesis is a common procedure to correct scoliosis. The long-term consequences of retained implants are unclear. Possible toxic effects related to raised metal ion levels have been reported in the literature. Thirty patients who underwent posterior spinal arthrodesis with stainless steel instrumentation for scoliosis (group 1) were included. Minimum postoperative duration was 3 years. Serum chromium, molybdenum, iron, and ferritin levels were measured. Participants with elevated above normal serum chromium levels (n = 11) also underwent erythrocyte chromium analysis. Comparisons were made with 2 control groups; 10 individuals with scoliosis with no spinal surgery (group 2) and 10 volunteers without scoliosis (group 3). All control group participants underwent serum and erythrocyte analysis. Elevated above normal serum chromium levels were demonstrated in 11 of 30 (37%) group 1 participants. Elevated serum chromium levels were demonstrated in 0 of 10 participants (0%) in group 2 and 1 of 10 (10%) in group 3. There was a statistically significant elevation in serum chromium levels between group 1 and group 2 participants (P = 0.001). There was no significant association between groups 1, 2, and 3 for serum molybdenum, iron, and ferritin levels. Erythrocyte chromium measurements were considered within the normal range for all participants tested (n = 31). Raised serum chromium levels were detected in 37% of patients following instrumented spinal arthrodesis for correction of scoliosis. This new finding has relatively unknown health implications but potential mutagenic, teratogenic and carcinogenic sequelae. This is especially concerning with most scoliosis patients being adolescent females with their reproductive years ahead.

  14. Association between polymorphisms in cancer-related genes and early onset of esophageal adenocarcinoma.

    PubMed

    Wu, I-Chen; Zhao, Yang; Zhai, Rihong; Liu, Geoffrey; Ter-Minassian, Monica; Asomaning, Kofi; Su, Li; Liu, Chen-Yu; Chen, Feng; Kulke, Matthew H; Heist, Rebecca S; Christiani, David C

    2011-04-01

    There is an increasing incidence of esophageal adenocarcinoma (EA) among younger people in the western populations. However, the association between genetic polymorphisms and the age of EA onset is unclear. In this study, 1330 functional/tagging single-nucleotide polymorphisms (SNPs) from 354 cancer-related genes were genotyped in 335 white EA patients. Twenty important SNPs that have the highest importance scores and lowest classification error rate were identified by the random forest algorithm to be associated with early onset of EA (age ≤ 55 years). Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2, rs17757541 of BCL2, rs11775256 of TNFRSF10A, rs1035142 of CASP8, rs2236302 of MMP14, rs4740363 of ABL1, rs696217 of GHRL, rs2445762 of CYP19A1, and rs11941492 of VEGFR2/KDR) were significantly associated with early onset of EA (≤55 vs >55 years, all P < .05 after adjusting for co-variates and false discovery rate). Among them, five SNPs in the NOS3, BCL2, TNFRSF10A, and CASP8 genes were known to be involved in apoptosis processes. In Kaplan-Meier analyses, rs2070744 of NOS3, rs720321 of BCL2, and rs1035142 of CASP8 were also significantly associated with early onset of EA. Moreover, there was a higher risk of developing EA at a younger age when one had more risk genotypes. In conclusion, polymorphisms in cancer-related genes, especially those in the apoptotic pathway, play an important role in the development of younger-aged EA in a dose-response manner.

  15. Scoliosis Research Society members attitudes towards physical therapy and physiotherapeutic scoliosis specific exercises for adolescent idiopathic scoliosis.

    PubMed

    Marti, Cindy L; Glassman, Steven D; Knott, Patrick T; Carreon, Leah Y; Hresko, Michael T

    2015-01-01

    Attitudes regarding non-operative treatment for adolescent idiopathic scoliosis (AIS) may be changing with the publication of BRAiST. Physiotherapeutic Scoliosis Specific Exercises (PSSE) are used to treat AIS, but high-quality evidence is limited. The purpose of this study is to assess the attitudes of members of the Scoliosis Research Society towards PSSE. A survey was sent to all SRS members with questions on use of Physical Therapy (PT) and PSSE for AIS. The majority of the 263 respondents were from North America (175, 67 %), followed by Asia (37, 14 %) and Europe (36, 14 %). The majority of respondents (166, 63 %) prescribed neither PT nor PSSE, 28 (11 %) prescribed both PT and PSSE, 39 (15 %) prescribe PT only and 30 (11 %) prescribe PSSE only. PT was prescribed by 67 respondents, as an adjunct to bracing (39) and in small curves (32); with goals to improve aesthetics (27) and post-operative outcomes (25). Of the 196 who do not prescribe PT, the main reasons were lack of evidence (149) and the perception that PT had no value (112). PSSE was prescribed by 58 respondents. The most common indication was as an adjunct to bracing (49) or small curves (41); with goals to improve aesthetics (36), prevent curve progression (35) and improve quality of life (31). Of the respondents who do not prescribe PSSE, the main reasons were lack of supporting research (149), a perception that PSSE had no value (108), and lack of access (63). Most respondents state that evidence of efficacy may increase the role of PSSE, with 85 % (223 of 263) favoring funding PSSE studies by the SRS. The results show that 22 % of the respondents use PSSE for AIS, skepticism remains regarding the benefit of PSSE for AIS. Support for SRS funded research suggests belief that there is potential benefit from PSSE and the best way to assess that potential is through evidence development.

  16. Prevalence and predictors of adolescent idiopathic scoliosis in adolescent ballet dancers.

    PubMed

    Longworth, Brooke; Fary, Robyn; Hopper, Diana

    2014-09-01

    To determine any differences between the prevalence of adolescent idiopathic scoliosis in ballet dancers who are girls compared with age-matched nondancers, and to establish if any relations exist between the presence of scoliosis and generalized joint hypermobility, age of menarche, body mass index (BMI), and the number of hours of dance training per week. Cross-sectional, matched pair study. Dance school. Dancers (n=30) between the ages of 9 and 16 years were recruited from a certified dance school in Western Australia; each dancer provided a consenting age-matched nondancer (n=30). Not applicable. Measurements were taken for angle of trunk rotation using a scoliometer (presence of scoliosis) and for height and weight to produce generalized joint hypermobility using Beighton criteria and an age-adjusted BMI, respectively. A subjective questionnaire regarding age of menarche and participation in dance and other sports was completed. Thirty percent of dancers tested positive for scoliosis compared with 3% of nondancers. Odds ratio calculations suggest that dancers were 12.4 times more likely to have scoliosis than nondancers of the same age. There was a higher rate of hypermobility in the dancer group (70%) compared with the nondancers (3%); however, there were no statistically significant relations between scoliosis and hypermobility, age of menarche, BMI, or hours of dance per week. Adolescent dancers, similar to adult dancers, are at significantly higher risk of developing scoliosis than nondancers of the same age. Vigilant screening and improved education of dance teachers and parents of dance students may be beneficial in earlier detection and, consequently, reducing the risk of requiring surgical intervention. Copyright © 2014 American Congress of Rehabilitation Medicine. Published by Elsevier Inc. All rights reserved.

  17. Lumbar scoliosis associated with spinal stenosis in idiopathic and degenerative cases.

    PubMed

    Le Huec, J C; Cogniet, A; Mazas, S; Faundez, A

    2016-10-01

    Degenerative de novo scoliosis is commonly present in older adult patients. The degenerative process including disc bulging, facet arthritis, and ligamentum flavum hypertrophy contributes to the appearance of symptoms of spinal stenosis. Idiopathic scoliosis has also degenerative changes that can lead to spinal stenosis. The aetiology, prevalence, biomechanics, classification, symptomatology, and treatment of idiopathic and degenerative lumbar scoliosis in association with spinal stenosis are reviewed. Review study is based on a review of pertinent but non-exhaustive literature of the last 20 years in PubMed in English language. Retrospective analysis of studies focused on all parameters concerning scoliosis associated with stenosis. Very few publications have focused specifically on idiopathic scoliosis and stenosis, and this was before the advent of modern segmental instrumentation. On the other hand, many papers were found for degenerative scoliosis and stenosis with treatment methods based on aetiology of spinal canal stenosis and analysis of global sagittal and frontal parameters. Satisfactory clinical results after operative treatment range from 83 to 96 % but with increased percentage of complications. Recent literature analysed the importance of stabilizing or not the spine after decompression in such situation knowing the increasing risk of instability after facet resection. No prospective randomized studies were found to support short instrumentation. Long instrumentation and fusion to prevent distabilization after decompression were always associated with higher complication rates. Imbalance patients with unsatisfactory compensation capacities were at risk of complications. Operative treatment using newly proposed classification system of lumbar scoliosis with associated canal stenosis is useful. Sagittal balance and rotatory dislocation are the main parameters to analyse to determine the length of fusion.

  18. Curve Modulation and Apex Migration Using Shilla Growth Guidance Rods for Early-onset Scoliosis at 5-Year Follow-up.

    PubMed

    Wilkinson, John T; Songy, Chad E; Bumpass, David B; McCullough, Francis L; McCarthy, Richard E

    2017-04-03

    The Shilla procedure was designed to correct and control early-onset spinal deformity while harnessing a child's remaining spinal growth. It allows for controlled axial skeletal growth within the construct, avoiding the need for frequent surgeries to lengthen implants. We hypothesized that curve characteristics evolve over time after initial apex fusion and placement of the Shilla implants. The purpose of this study was to identify trends in curve evolution after Shilla implantation and understand how these changes influence ultimate outcome. A single-center, retrospective review of all patients with Shilla implants in place for ≥5 years yielded 21 patients. Charts and radiographs were reviewed to compare coronal curve characteristics preoperatively, postoperatively, and at last follow-up to note changes in the apex of the primary curve. Also noted were the development of adjacent compensatory curves, the overall vertical spinal growth, and the need for definitive spinal fusion once skeletal maturity was reached. Of the 21 patients, the curve apex migrated caudally in 12 patients (57%) and cephalad in 1 patient (5%), with a mean migration of 2.7 vertebral levels. Two patients (10%) developed new, significant compensatory curves (1 caudal and 1 cephalad). All patients demonstrated spinal growth in T1-S1 length following index surgery (mean, 45 mm). At skeletal maturity, 10 patients underwent definitive posterior spinal fusion and instrumentation, and 3 underwent implant removal alone. This study constitutes the longest follow-up of Shilla patients evaluating curve and implant behavior. Results of this review suggest that the apex of the fused primary curve shifts in approximately 62% of patients, with nearly all of these (92%) involving a distal migration. Compensatory curves did develop after Shilla placement as well. Overall, these findings represent adding-on distal to the apex after Shilla instrumentation rather than a crankshaft phenomenon about the apex. A

  19. Converting Scoliosis Research Society-24 to Scoliosis Research Society-22r in a Surgical-Range, Medical/Interventional Adolescent Idiopathic Scoliosis Patient Cohort.

    PubMed

    Chen, Antonia F; Bi, Wenzhu; Singhabahu, Dilrukshika; Londino, Joanne; Hohl, Justin; Ward, Maeve; Ward, W Timothy

    2013-03-01

    Prospective questionnaire administration study. To assess the ability to translate total and domain scores from Scoliosis Research Society (SRS)-24 to SRS-22r in a surgical-range, medical/interventional adolescent idiopathic scoliosis (AIS) patient population. Conversion of SRS-24 to SRS-22r is demonstrated in an operative cohort of patients with AIS, but not in a medical/interventional patient population. We simultaneously administered SRS-24 and SRS-22r questionnaires to 75 surgical-range, medical/interventional AIS patients and compared them. We performed analysis by regression modeling to produce conversion equations from SRS-24 to SRS-22r. The total SRS-24 score for these medical/interventional AIS patients was 92.5 ± 9.45 (mean, 3.9 ± 0.39), and the total SRS-22r score was 93.5 ± 9.63 (mean, 4.3 ± 0.44). The correlation between these 2 groups was fair (R 2 = 0.77) and improved to good when mental health or recall questions were removed. The correlation was also fair for total pain domains (R 2 = 0.73). However, there was poor correlation for general self-image (R 2 = 0.6) and unacceptable for post-treatment self-image (R 2 = 0.01), general function (R 2 = 0.52), activity function (R 2 = 0.56), and satisfaction (R 2 = 0.53). Compared with a published population of operative AIS patients, R 2 values for total SRS-24 scores, pain, general self-image, activity function, and satisfaction were similar (p > .05). The R 2 values for general function and combined general and activity function were significantly different between the operative and medical/interventional cohorts. Scoliosis Research Society-24 can be converted to SRS-22r scores with fair accuracy in the surgical-range, medical/interventional AIS patient population for total score, and total pain domains. The SRS-24 translates unacceptably to the SRS-22r in self-image, function, and satisfaction domains. The SRS-24 to SRS-22r conversion equations are similar to operative AIS patients, except for the

  20. Predictors of Early-Onset Permanent Hearing Loss in Malnourished Infants in Sub-Saharan Africa

    ERIC Educational Resources Information Center

    Olusanya, Bolajoko O.

    2011-01-01

    The objective of this study was to determine the predictors of early-onset permanent hearing loss (EPHL) among undernourished infants in a low-income country where routine screening for developmental disabilities in early childhood is currently unattainable. All infants attending four community-based clinics for routine immunization who met the…

  1. Clinical features of early onset, familial Alzheimer`s disease linked to chromosome 14

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Mullan, M.; Bennett, C.; Figueredo, C.

    1995-02-27

    Early onset familial Alzheimer`s disease (AD) has an autosomal dominant mode of inheritance. Two genes are responsible for the majority of cases of this subtype of AD. Mutations in the {beta}-amyloid precursor protein ({beta}APP) gene on chromosome 21 have been shown to completely cosegregate with the disease. We and others have previously described the clinical features of families with {beta}APP mutations at the codon 717 locus in an attempt to define the phenotype associated with a valine to isoleucine (Val {r_arrow} Ile) or a valine to glycine (Val {r_arrow} Gly) change. More recently, a second locus for very early onsetmore » disease has been localized to chromosome 14. The results of linkage studies in some families suggesting linkage to both chromosomes have been explained by the suggestion of a second (centromeric) locus on chromosome 21. Here we report the clinical features and genetic analysis of a British pedigree (F74) with early onset AD in which neither the {beta}APP locus nor any other chromosome 21 locus segregates with the disease, but in which good evidence is seen for linkage on the long arm of chromosome 14. In particular we report marker data suggesting that the chromosome 14 disease locus is close to D14S43 and D14S77. Given the likelihood that F74 represents a chromosome 14 linked family, we describe the clinical features and make a limited clinical comparison with the {beta}APP717 Val {r_arrow} Ile and {beta}APP717 Val {r_arrow} Gly encoded families that have been previously described. We conclude that although several previously reported clinical features occur to excess in early onset familial AD, no single clinical feature demarcates either the chromosome 14 or {beta}APP codon 717 mutated families except mean age of onset. 52 refs., 2 figs., 5 tabs.« less

  2. Pulmonary Function in Middle-Aged Patients With Idiopathic Scoliosis With Onset Before the Age of 10 Years.

    PubMed

    Danielsson, Aina J; Ekerljung, Linda; Hallerman, Kerstin Lofdahl

    2015-09-01

    Consecutive patients with idiopathic scoliosis diagnosed before age 10 attended a clinical follow-up at least 10 years after treatment. To evaluate the pulmonary function in adulthood after treatment with brace or surgery before maturity. Long-term studies of these patients have not been published. One hundred twenty-four patients (69% of the original group) underwent radiography, spirometry, and answered symptom questionnaires. A total of 73 patients had spirometries before treatment enabling longitudinal evaluation. Overall, 68 braced only (BT) and 56 surgically treated (ST) were analyzed in detail. A population-based control group was used. At follow-up, the mean age was 41.5 years and the mean curve size 36 degrees (26% of the curves >45 degrees). The full patient group had a significantly reduced pulmonary function (as measured by the forced vital capacity [FVC], percentage of predicted) compared with the control group, mean 85% versus 102% (p < .0001). Both subgroups of BT and ST patients showed a significant reduction, more in the ST than the BT group (means 79% and 90%, respectively, p = .0003). The most important risk factor for a low lung function at follow-up was a low initial FVC value. Initial curve size correlated with pulmonary function both before treatment and at follow-up. Most surgically treated patients, who had larger curves before treatment, did not improve their pulmonary function after surgery. Both braced and surgically treated patients had reduced pulmonary function at the age of around 40 years. The pulmonary function did not worsen over time in most patients. There was no difference in terms of symptoms between patient groups and controls. Initial curve size was found to be of great importance for pulmonary function. Initial spirometry and follow-up in selected patients is important. III. Copyright © 2015 Scoliosis Research Society. Published by Elsevier Inc. All rights reserved.

  3. Family history of skin cancer is associated with early-onset basal cell carcinoma independent of MC1R genotype.

    PubMed

    Berlin, Nicholas L; Cartmel, Brenda; Leffell, David J; Bale, Allen E; Mayne, Susan T; Ferrucci, Leah M

    2015-12-01

    As a marker of genetic susceptibility and shared lifestyle characteristics, family history of cancer is often used to evaluate an individual's risk for developing a particular malignancy. With comprehensive data on pigment characteristics, lifestyle factors, and melanocortin 1 receptor (MC1R) gene sequence, we sought to clarify the role of family history of skin cancer in early-onset basal cell carcinoma (BCC). Early onset BCC cases (n=376) and controls with benign skin conditions (n=383) under age 40 were identified through Yale dermatopathology. Self-report data on family history of skin cancer (melanoma and non-melanoma skin cancer), including age of onset in relatives, was available from a structured interview. Participants also provided saliva samples for sequencing of MC1R. A family history of skin cancer was associated with an increased risk of early-onset BCC (OR 2.49, 95% CI 1.80-3.45). In multivariate models, family history remained a strong risk factor for early-onset BCC after adjustment for pigment characteristics, UV exposure, and MC1R genotype (OR 2.41, 95% CI 1.74-3.35). Risk for BCC varied based upon the type and age of onset of skin cancer among affected relatives; individuals with a first-degree relative diagnosed with skin cancer prior to age 50 were at highest risk for BCC (OR 4.79, 95% CI 2.90-7.90). Even after taking into account potential confounding effects of MC1R genotype and various lifestyle factors that close relatives may share, family history of skin cancer remained strongly associated with early-onset BCC. Copyright © 2015. Published by Elsevier Ltd.

  4. Neurocognitive Outcomes in the Treatment of Early-Onset Schizophrenia Spectrum Disorders Study

    ERIC Educational Resources Information Center

    Frazier, Jean A.; Giuliano, Anthony J.; Johnson, Jacqueline L.; Yakutis, Lauren; Youngstrom, Eric A.; Breiger, David; Sikich, Linmarie; Findling, Robert L.; McClellan, Jon; Hamer, Robert M.; Vitiello, Benedetto; Lieberman, Jeffrey A.; Hooper, Stephen R.

    2012-01-01

    Objective: To assess neurocognitive outcomes following antipsychotic intervention in youth enrolled in the National Institute of Mental Health (NIMH)-funded Treatment of Early-Onset Schizophrenia Spectrum Disorders (TEOSS). Method: Neurocognitive functioning of youth (ages 8 to 19 years) with schizophrenia or schizoaffective disorder was evaluated…

  5. Polygenic risk score in postmortem diagnosed sporadic early-onset Alzheimer's disease.

    PubMed

    Chaudhury, Sultan; Patel, Tulsi; Barber, Imelda S; Guetta-Baranes, Tamar; Brookes, Keeley J; Chappell, Sally; Turton, James; Guerreiro, Rita; Bras, Jose; Hernandez, Dena; Singleton, Andrew; Hardy, John; Mann, David; Morgan, Kevin

    2018-02-01

    Sporadic early-onset Alzheimer's disease (sEOAD) exhibits the symptoms of late-onset Alzheimer's disease but lacks the familial aspect of the early-onset familial form. The genetics of Alzheimer's disease (AD) identifies APOEε4 to be the greatest risk factor; however, it is a complex disease involving both environmental risk factors and multiple genetic loci. Polygenic risk scores (PRSs) accumulate the total risk of a phenotype in an individual based on variants present in their genome. We determined whether sEOAD cases had a higher PRS compared to controls. A cohort of sEOAD cases was genotyped on the NeuroX array, and PRSs were generated using PRSice. The target data set consisted of 408 sEOAD cases and 436 controls. The base data set was collated by the International Genomics of Alzheimer's Project consortium, with association data from 17,008 late-onset Alzheimer's disease cases and 37,154 controls, which can be used for identifying sEOAD cases due to having shared phenotype. PRSs were generated using all common single nucleotide polymorphisms between the base and target data set, PRS were also generated using only single nucleotide polymorphisms within a 500 kb region surrounding the APOE gene. Sex and number of APOE ε2 or ε4 alleles were used as variables for logistic regression and combined with PRS. The results show that PRS is higher on average in sEOAD cases than controls, although there is still overlap among the whole cohort. Predictive ability of identifying cases and controls using PRSice was calculated with 72.9% accuracy, greater than the APOE locus alone (65.2%). Predictive ability was further improved with logistic regression, identifying cases and controls with 75.5% accuracy. Copyright © 2017 Elsevier Inc. All rights reserved.

  6. A procedure to detect abnormal sensorimotor control in adolescents with idiopathic scoliosis.

    PubMed

    Pialasse, Jean-Philippe; Mercier, Pierre; Descarreaux, Martin; Simoneau, Martin

    2017-09-01

    This work identifies, among adolescents with idiopathic scoliosis, those demonstrating impaired sensorimotor control through a classification procedure comparing the amplitude of their vestibular-evoked postural responses. The sensorimotor control of healthy adolescents (n=17) and adolescents with idiopathic scoliosis (n=52) with either mild (Cobb angle≥15° and ≤30°) or severe (Cobb angle >30°) spine deformation was assessed through galvanic vestibular stimulation. A classification procedure sorted out adolescents with idiopathic scoliosis whether the amplitude of their vestibular-evoked postural response was dissimilar or similar to controls. Compared to controls, galvanic vestibular stimulation evoked larger postural response in adolescents with idiopathic scoliosis. Nonetheless, the classification procedure revealed that only 42.5% of all patients showed impaired sensorimotor control. Consequently, identifying patients with sensorimotor control impairment would allow to apply personalized treatments, help clinicians to establish prognosis and hopefully improve the condition of patients with adolescent idiopathic scoliosis. Copyright © 2017 Elsevier B.V. All rights reserved.

  7. Whole Exome Analysis of Early Onset Alzheimer’s Disease

    DTIC Science & Technology

    2013-04-01

    FTD), FTD with Parkinsonism , and early-onset Alzheimer Disease (EOAD)-like presentations. Using whole exome capture with subsequent sequencing, we...dementia. The MAPT R406W mutation is associated with EOAD-like symptoms and Parkinsonism without FTD, as well as distinct cognitive courses. KEY...OUTCOMES: Carney RM, Kohli MA, Kunkle BW, Naj AC, Gilbert JR, Züchner S, PERICAK-VANCE MA, Parkinsonism and distinct dementia patterns in a

  8. Early-Onset Neonatal Sepsis

    PubMed Central

    Simonsen, Kari A.; Anderson-Berry, Ann L.; Delair, Shirley F.

    2014-01-01

    SUMMARY Early-onset sepsis remains a common and serious problem for neonates, especially preterm infants. Group B streptococcus (GBS) is the most common etiologic agent, while Escherichia coli is the most common cause of mortality. Current efforts toward maternal intrapartum antimicrobial prophylaxis have significantly reduced the rates of GBS disease but have been associated with increased rates of Gram-negative infections, especially among very-low-birth-weight infants. The diagnosis of neonatal sepsis is based on a combination of clinical presentation; the use of nonspecific markers, including C-reactive protein and procalcitonin (where available); blood cultures; and the use of molecular methods, including PCR. Cytokines, including interleukin 6 (IL-6), interleukin 8 (IL-8), gamma interferon (IFN-γ), and tumor necrosis factor alpha (TNF-α), and cell surface antigens, including soluble intercellular adhesion molecule (sICAM) and CD64, are also being increasingly examined for use as nonspecific screening measures for neonatal sepsis. Viruses, in particular enteroviruses, parechoviruses, and herpes simplex virus (HSV), should be considered in the differential diagnosis. Empirical treatment should be based on local patterns of antimicrobial resistance but typically consists of the use of ampicillin and gentamicin, or ampicillin and cefotaxime if meningitis is suspected, until the etiologic agent has been identified. Current research is focused primarily on development of vaccines against GBS. PMID:24396135

  9. Reliability and concurrent validity of postural asymmetry measurement in adolescent idiopathic scoliosis

    PubMed Central

    Prowse, Ashleigh; Aslaksen, Berit; Kierkegaard, Marie; Furness, James; Gerdhem, Paul; Abbott, Allan

    2017-01-01

    AIM To investigate the reliability and concurrent validity of the Baseline® Body Level/Scoliosis meter for adolescent idiopathic scoliosis postural assessment in three anatomical planes. METHODS This is an observational reliability and concurrent validity study of adolescent referrals to the Orthopaedic department for scoliosis screening at Karolinska University Hospital, Stockholm, Sweden between March-May 2012. A total of 31 adolescents with idiopathic scoliosis (13.6 ± 0.6 years old) of mild-moderate curvatures (25° ± 12°) were consecutively recruited. Measurement of cervical, thoracic and lumbar curvatures, pelvic and shoulder tilt, and axial thoracic rotation (ATR) were performed by two trained physiotherapists in one day. The intraclass correlation coefficient (ICC) was used to determine the inter-examiner reliability (ICC2,1) and the intra-rater reliability (ICC3,3) of the Baseline® Body Level/Scoliosis meter. Spearman’s correlation analyses were used to estimate concurrent validity between the Baseline® Body Level/Scoliosis meter and Gold Standard Cobb angles from radiographs and the Orthopaedic Systems Inc. Scoliometer. RESULTS There was excellent reliability between examiners for thoracic kyphosis (ICC2,1 = 0.94), ATR (ICC2,1 = 0.92) and lumbar lordosis (ICC2,1 = 0.79). There was adequate reliability between examiners for cervical lordosis (ICC2,1 = 0.51), however poor reliability for pelvic and shoulder tilt. Both devices were reproducible in the measurement of ATR when repeated by one examiner (ICC3,3 0.98-1.00). The device had a good correlation with the Scoliometer (rho = 0.78). When compared with Cobb angle from radiographs, there was a moderate correlation for ATR (rho = 0.627). CONCLUSION The Baseline® Body Level/Scoliosis meter provides reliable transverse and sagittal cervical, thoracic and lumbar measurements and valid transverse plan measurements of mild-moderate scoliosis deformity. PMID:28144582

  10. Reliability and concurrent validity of postural asymmetry measurement in adolescent idiopathic scoliosis.

    PubMed

    Prowse, Ashleigh; Aslaksen, Berit; Kierkegaard, Marie; Furness, James; Gerdhem, Paul; Abbott, Allan

    2017-01-18

    To investigate the reliability and concurrent validity of the Baseline ® Body Level/Scoliosis meter for adolescent idiopathic scoliosis postural assessment in three anatomical planes. This is an observational reliability and concurrent validity study of adolescent referrals to the Orthopaedic department for scoliosis screening at Karolinska University Hospital, Stockholm, Sweden between March-May 2012. A total of 31 adolescents with idiopathic scoliosis (13.6 ± 0.6 years old) of mild-moderate curvatures (25° ± 12°) were consecutively recruited. Measurement of cervical, thoracic and lumbar curvatures, pelvic and shoulder tilt, and axial thoracic rotation (ATR) were performed by two trained physiotherapists in one day. The intraclass correlation coefficient (ICC) was used to determine the inter-examiner reliability (ICC2,1) and the intra-rater reliability (ICC3,3) of the Baseline ® Body Level/Scoliosis meter. Spearman's correlation analyses were used to estimate concurrent validity between the Baseline ® Body Level/Scoliosis meter and Gold Standard Cobb angles from radiographs and the Orthopaedic Systems Inc. Scoliometer. There was excellent reliability between examiners for thoracic kyphosis (ICC2,1 = 0.94), ATR (ICC2,1 = 0.92) and lumbar lordosis (ICC2,1 = 0.79). There was adequate reliability between examiners for cervical lordosis (ICC2,1 = 0.51), however poor reliability for pelvic and shoulder tilt. Both devices were reproducible in the measurement of ATR when repeated by one examiner (ICC3,3 0.98-1.00). The device had a good correlation with the Scoliometer (rho = 0.78). When compared with Cobb angle from radiographs, there was a moderate correlation for ATR (rho = 0.627). The Baseline ® Body Level/Scoliosis meter provides reliable transverse and sagittal cervical, thoracic and lumbar measurements and valid transverse plan measurements of mild-moderate scoliosis deformity.

  11. Identifying anomalously early spring onsets in the CESM large ensemble project

    NASA Astrophysics Data System (ADS)

    Labe, Zachary; Ault, Toby; Zurita-Milla, Raul

    2017-06-01

    Seasonal transitions from winter to spring impact a wide variety of ecological and physical systems. While the effects of early springs across North America are widely documented, changes in their frequency and likelihood under the combined influences of climate change and natural variability are poorly understood. Extremely early springs, such as March 2012, can lead to severe economical losses and agricultural damage when these are followed by hard freeze events. Here we use the new Community Earth System Model Large Ensemble project and Extended Spring Indices to simulate historical and future spring onsets across the United States and in the particular the Great Lakes region. We found a marked increase in the frequency of March 2012-like springs by midcentury in addition to an overall trend towards earlier spring onsets, which nearly doubles that of observational records. However, changes in the date of last freeze do not occur at the same rate, therefore, causing a potential increase in the threat of plant tissue damage. Although large-scale climate modes, such as the Pacific Decadal Oscillation, have previously dominated decadal to multidecadal spring onset trends, our results indicate a decreased role in natural climate variability and hence a greater forced response by the end of the century for modulating trends. Without a major reduction in greenhouse gas emissions, our study suggests that years like 2012 in the US could become normal by mid-century.

  12. Conservative treatment of idiopathic scoliosis according to FITS concept: presentation of the method and preliminary, short term radiological and clinical results based on SOSORT and SRS criteria

    PubMed Central

    2011-01-01

    Background Conservative scoliosis therapy according to the FITS Concept is applied as a unique treatment or in combination with corrective bracing. The aim of the study was to present author's method of diagnosis and therapy for idiopathic scoliosis FITS-Functional Individual Therapy of Scoliosis and to analyze the early results of FITS therapy in a series of consecutive patients. Methods The analysis comprised separately: (1) single structural thoracic, thoracolumbar or lumbar curves and (2) double structural scoliosis-thoracic and thoracolumbar or lumbar curves. The Cobb angle and Risser sign were analyzed at the initial stage and at the 2.8-year follow-up. The percentage of patients improved (defined as decrease of Cobb angle of more than 5 degrees), stable (+/- 5 degrees), and progressed (increase of Cobb angle of more than 5 degrees) was calculated. The clinical assessment comprised: the Angle of Trunk Rotation (ATR) initial and follow-up value, the plumb line imbalance, the scapulae level and the distance from the apical spinous process of the primary curve to the plumb line. Results In the Group A: (1) in single structural scoliosis 50,0% of patients improved, 46,2% were stable and 3,8% progressed, while (2) in double scoliosis 50,0% of patients improved, 30,8% were stable and 19,2% progressed. In the Group B: (1) in single scoliosis 20,0% of patients improved, 80,0% were stable, no patient progressed, while (2) in double scoliosis 28,1% of patients improved, 46,9% were stable and 25,0% progressed. Conclusion Best results were obtained in 10-25 degrees scoliosis which is a good indication to start therapy before more structural changes within the spine establish. PMID:22122964

  13. Early pubertal onset and its relationship with sexual risk taking, substance use and anti-social behaviour: a preliminary cross-sectional study

    PubMed Central

    2009-01-01

    Background In many countries age at pubertal onset has declined substantially. Relatively little attention has been paid to how this decline may affect adolescent behaviours such as substance use, violence and unprotected sex and consequently impact on public health. Methods In the UK, two opportunistic samples (aged 16-45 years), paper-based (n = 976) and online (n = 1117), examined factors associated with earlier pubertal onset and whether earlier age of onset predicted sexual risk-taking, substance use and anti-social behaviours during early adolescence. Results Overall, 45.6% of females reported menarche ≤ 12 years and 53.3% of males were categorised as having pubertal onset ≤ 11 years. For both sexes earlier pubertal onset was associated with poorer parental socio-economic status. Other pre-pubertal predictors of early onset were being overweight, more childhood illnesses (females) and younger age at time of survey (males). For both sexes earlier puberty predicted having drunk alcohol, been drunk, smoked and used drugs <14 years as well as having a sexual debut and unprotected sex <16 years. Males with earlier pubertal onset were more likely to report fighting and aggressive responses to emotional upset during early adolescence while females were more likely to report being bullied and having taken more time off school. Conclusion Results provide sufficient evidence for changes in age of pubertal onset to be further explored as a potential influence on trends in adolescent risk behaviours. Further insight into the relationship between early puberty and both obesity and socio-economic status may help inform early interventions to tackle the development of risk behaviours and health inequalities during early adolescence. PMID:19958543

  14. Early functional and morphological brain disturbances in late-onset intrauterine growth restriction.

    PubMed

    Starčević, Mirta; Predojević, Maja; Butorac, Dražan; Tumbri, Jasna; Konjevoda, Paško; Kadić, Aida Salihagić

    2016-02-01

    To determine whether the brain disturbances develop in late-onset intrauterine growth restriction (IUGR) before blood flow redistribution towards the fetal brain (detected by Doppler measurements in the middle cerebral artery and umbilical artery). Further, to evaluate predictive values of Doppler arterial indices and umbilical cord blood gases and pH for early functional and/or morphological brain disturbances in late-onset IUGR. This cohort study included 60 singleton term pregnancies with placental insufficiency caused late-onset IUGR (IUGR occurring after 34 gestational weeks). Umbilical artery resistance index (URI), middle cerebral artery resistance index (CRI), and cerebroumbilical (C/U) ratio (CRI/URI) were monitored once weekly. Umbilical blood cord samples (arterial and venous) were collected for the analysis of pO2, pCO2 and pH. Morphological neurological outcome was evaluated by cranial ultrasound (cUS), whereas functional neurological outcome by Amiel-Tison Neurological Assessment at Term (ATNAT). 50 fetuses had C/U ratio>1, and 10 had C/U ratio≤1; among these 10 fetuses, 9 had abnormal neonatal cUS findings and all 10 had non-optimal ATNAT. However, the total number of abnormal neurological findings was much higher. 32 neonates had abnormal cUS (53.37%), and 42 (70.00%) had non-optimal ATNAT. Furthermore, Doppler indices had higher predictive validity for early brain disturbances than umbilical cord blood gases and pH. C/U ratio had the highest predictive validity with threshold for adverse neurological outcome at value 1.13 (ROC analysis), i.e., 1.18 (party machine learning algorithm). Adverse neurological outcome at average values of C/U ratios>1 confirmed that early functional and/or structural brain disturbances in late-onset IUGR develop even before activation of fetal cardiovascular compensatory mechanisms, i.e., before Doppler signs of blood flow redistribution between the fetal brain and the placenta. Copyright © 2015 Elsevier Ireland Ltd

  15. High-Definition transcranial direct current stimulation in early onset epileptic encephalopathy: a case study.

    PubMed

    Meiron, Oded; Gale, Rena; Namestnic, Julia; Bennet-Back, Odeya; David, Jonathan; Gebodh, Nigel; Adair, Devin; Esmaeilpour, Zeinab; Bikson, Marom

    2018-01-01

    Early onset epileptic encephalopathy is characterized by high daily seizure-frequency, multifocal epileptic discharges, severe psychomotor retardation, and death at infancy. Currently, there are no effective treatments to alleviate seizure frequency and high-voltage epileptic discharges in these catastrophic epilepsy cases. The current study examined the safety and feasibility of High-Definition transcranial direct current stimulation (HD-tDCS) in reducing epileptiform activity in a 30-month-old child suffering from early onset epileptic encephalopathy. HD-tDCS was administered over 10 intervention days spanning two weeks including pre- and post-intervention video-EEG monitoring. There were no serious adverse events or side effects related to the HD-tDCS intervention. Frequency of clinical seizures was not significantly reduced. However, interictal sharp wave amplitudes were significantly lower during the post-intervention period versus baseline. Vital signs and blood biochemistry remained stable throughout the entire study. These exploratory findings support the safety and feasibility of 4 × 1 HD-tDCS in early onset epileptic encephalopathy and provide the first evidence of HD-tDCS effects on paroxysmal EEG features in electroclinical cases under the age of 36 months. Extending HD-tDCS treatment may enhance electrographic findings and clinical effects.

  16. [The effect of lateral thoracotomy on the development of scoliosis in patients with patent ductus arteriosus].

    PubMed

    Rocławski, Marek; Sabiniewicz, Robert; Potaz, Piotr; Smoczyński, Andrzej; Lorczyński, Adam; Pankowski, Rafał; Bieniecki, Michał

    2009-01-01

    Surgery, particularly thoracotomy in the thoracic area in infancy has been implicated in the development of scoliosis of thoracogenic origin. The aim of this study was to determine the influence of lateral thoracotomy on scoliosis development in subjects with patent ductus arteriosus. A group of 69 patients with patent ductus arteriosus was evaluated. 38 patients were operated using left lateral thoracotomy and 31 patients were treated non-operatively using intravascular coil implantation. A spinal examination together with the evaluation of spinal roentgenograms was conducted. There was clinical scoliosis in 55% of operated, in 16% of non-operated patients. Scoliosis ranged between 10 and 42 degrees. 76% of operated patients with scoliosis had thoracic curves and in 57% of them left sided curves were found. All curves were right sided in non-operated subjects. Scoliosis in the operated group occurred in 68% of males and in 37% of females. Prevalence of scoliosis after thoracotomy was significantly higher than in the average population and after non-surgical methods of treatment of patent ductus arteriosus. The rate of single thoracic and the rate of left thoracic curves in patients after thoracotomy is higher than the rate in non-operated patients and in idiopathic scoliosis. Female to male ratio with scoliosis and after thoracotomy is significantly lower than in idiopathic scoliosis.

  17. The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy.

    PubMed

    Fehr, Stephanie; Wilson, Meredith; Downs, Jenny; Williams, Simon; Murgia, Alessandra; Sartori, Stefano; Vecchi, Marilena; Ho, Gladys; Polli, Roberta; Psoni, Stavroula; Bao, Xinhua; de Klerk, Nick; Leonard, Helen; Christodoulou, John

    2013-03-01

    The clinical understanding of the CDKL5 disorder remains limited, with most information being derived from small patient groups seen at individual centres. This study uses a large international data collection to describe the clinical profile of the CDKL5 disorder and compare with Rett syndrome (RTT). Information on individuals with cyclin-dependent kinase-like 5 (CDKL5) mutations (n=86) and females with MECP2 mutations (n=920) was sourced from the InterRett database. Available photographs of CDKL5 patients were examined for dysmorphic features. The proportion of CDKL5 patients meeting the recent Neul criteria for atypical RTT was determined. Logistic regression and time-to-event analyses were used to compare the occurrence of Rett-like features in those with MECP2 and CDKL5 mutations. Most individuals with CDKL5 mutations had severe developmental delay from birth, seizure onset before the age of 3 months and similar non-dysmorphic features. Less than one-quarter met the criteria for early-onset seizure variant RTT. Seizures and sleep disturbances were more common than in those with MECP2 mutations whereas features of regression and spinal curvature were less common. The CDKL5 disorder presents with a distinct clinical profile and a subtle facial, limb and hand phenotype that may assist in differentiation from other early-onset encephalopathies. Although mutations in the CDKL5 gene have been described in association with the early-onset variant of RTT, in our study the majority did not meet these criteria. Therefore, the CDKL5 disorder should be considered separate to RTT, rather than another variant.

  18. Morphology and Prevalence Study of Lumbar Scoliosis in 7,075 Multiracial Asian Adults.

    PubMed

    Liu, Gabriel; Tan, Jun Hao; Ee, Gerard; Chan, Yiong Huak; Low, Siew Leng; Wong, Hee-Kit

    2016-08-03

    Lumbar scoliosis affects patients' quality of life and will increasingly burden the health-care system as the population ages, yet there have been few reports of its prevalence in Asians. The aim of this study was to identify the prevalence of scoliosis, curve characteristics, and risk factors for development of scoliosis in an Asian population. A retrospective cross-sectional study was conducted using spinal images obtained from dual x-ray absorptiometry (DXA) scans of individuals ≥40 years of age. Scoliosis was defined as a curvature of >10°. A multivariate analysis for risk factors for development of lumbar scoliosis was performed. Of 7,075 patients studied, 645 (9.1%) were identified as having scoliosis. The average age of the patients with scoliosis was 61 years (range, 40 to 98 years). The mean curve prevalence was 9.4% in women and 6.5% in men. The average Cobb angle was 16.5° (range, 10° to 66°). Multivariate analysis showed an increased risk of scoliosis in women (relative risk [RR] = 2.4, 95% CI =1.4 to 4.3), Chinese patients (RR = 2.4, 95% CI = 1.4 to 4.3), Malay patients (RR = 2.5, 95% CI = 1.3 to 4.9), and patients with spinal fracture (RR = 5.1, 95% CI = 3.0 to 8.8). The risk of scoliosis was found to increase as patients progressed through each decade of life after the age of 40 years (6th decade: RR = 1.6, 95% CI = 1.1 to 2.4, p = 0.026; 7th decade: RR = 2.7, 95% CI = 1.8 to 4.1, p < 0.001; 8th decade: RR = 5.0, 95% CI = 3.2 to 7.9, p < 0.001; and 9th decade: RR = 8.8, 95% CI = 4.3 to 17.9, p < 0.001). The prevalence of lumbar scoliosis in Asian adults was found to be 9.1%. A nearly exponential increase in scoliosis prevalence from the 5th decade of life (4%) to the ≥9th decade (25%) and a majority of left-sided scoliotic curves, measuring between 10° and 19° with an L2 apex, was found. Older age, female sex, Chinese or Malay race, and vertebral fracture increased the risk of scoliosis developing. Prognostic Level IV. See Instructions for

  19. Postural Re-Education of Scoliosis - State of the Art (Mini-review).

    PubMed

    Borysov, Maksym; Moramarco, Marc; Sy, Ng; Lee, Sang G

    2016-01-01

    A new development of correcting exercises has been derived from the original Schroth program in 2010 and the preliminary results have been published that year. Since then the program has been applied in some centers worldwide. As the original Schroth program was the only program so far to improve many signs and symptoms of scoliosis besides the angle of curvature (Cobb angle) it was interesting to look for the preliminary results of the recent development of scoliosis pattern specific corrective exercises derived from the original program, to see if similar effects can be achieved with this less complicated method. A manual search in Pubmed was conducted, using the key words, Schroth, rehabilitation, and idiopathic scoliosis. Three papers have been found describing the short-term results of this new development today called Schroth Best Practice program (SBP). The papers were reviewed and analyzed with respect to the outcome parameters used. Outcome parameters were Angle of Trunk Rotation (ATR), Vital Capacity (VC), surface topography, electromyography, stabilometry and Cobb angle before and after a course of treatment. There was a significant improvement of all parameters after the application of this new program in all the three papers in the short- to mid-term. Scoliosis corrective exercises are supported by two randomized controlled trials (RCT) and should regularly be applied in mild scoliosis at risk for progression. Unspecific exercises such as Yoga, Dobomed cannot be regarded as effective as exercises using a well defined scoliosis pattern specific corrective routine.

  20. Gait and energy consumption in adolescent idiopathic scoliosis: A literature review.

    PubMed

    Daryabor, Aliyeh; Arazpour, Mokhtar; Sharifi, Guive; Bani, Monireh Ahmadi; Aboutorabi, Atefeh; Golchin, Navid

    2017-04-01

    Adolescent idiopathic scoliosis (AIS) is a progressive growth disease that affects spinal anatomy, mobility, and left-right trunk symmetry. The disease can modify human gait. We aimed to review articles describing the measurement of gait parameters and energy consumption in AIS during walking without any intervention. Literature review. The search strategy was based on the Population Intervention Comparison Outcome method and included all relevant articles published from 1996 to 2015. Articles were searched in MEDLINE via PubMed, Science Direct, Google Scholar, and ISI Web of Knowledge databases. We selected 33 studies investigating the effect of scoliosis deformity on gait parameters and energy expenditure during walking. Most of the studies concluded no significant differences in walking speed, cadence and step width in scoliosis patients and normal participants. However, patients showed decreased hip and pelvic motion, excessive energy cost of walking, stepping pattern asymmetry and ground reaction force asymmetry. We lack consistent evidence of the effect of scoliosis on temporal spatial and kinematic parameters in AIS patients as compared with normal people. However, further research is needed to assess the effect of scoliosis on gait and energy consumption. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  1. Is early-onset microsatellite and chromosomally stable colorectal cancer a hallmark of a genetic susceptibility syndrome?

    PubMed

    Kets, C M; van Krieken, J H J M; van Erp, P E J; Feuth, T; Jacobs, Y H A; Brunner, H G; Ligtenberg, M J L; Hoogerbrugge, N

    2008-02-15

    Most colorectal cancers show either microsatellite or chromosomal instability. A subset of colorectal cancers, especially those diagnosed at young age, is known to show neither of these forms of genetic instability and thus might have a distinct pathogenesis. Colorectal cancers diagnosed at young age are suggestive for hereditary predisposition. We investigate whether such early-onset microsatellite and chromosomally stable colorectal cancers are a hallmark of a genetic susceptibility syndrome. The ploidy status of microsatellite stable (familial) colorectal cancers of patients diagnosed before age 50 (n = 127) was analyzed in relation to the histopathological characteristics and family history. As a control the ploidy status of sporadic colorectal cancer, with normal staining of mismatch repair proteins, diagnosed at the age of 69 years or above (n = 70) was determined. A diploid DNA content was used as a marker for chromosomal stability. Within the group of patients with (familial) early onset microsatellite stable colorectal cancer the chromosomally stable tumors did not differ from chromosomally unstable tumors with respect to mean age at diagnosis, fulfillment of Amsterdam criteria or pathological characteristics. Segregation analysis did not reveal any family with microsatellite and chromosomally stable colorectal cancer in 2 relatives. The prevalence of microsatellite and chromosomally stable colorectal cancer was not significantly different for the early and late onset group (28 and 21%, respectively). We find no evidence that early-onset microsatellite and chromosomally stable colorectal cancer is a hallmark of a hereditary colorectal cancer syndrome. (c) 2007 Wiley-Liss, Inc.

  2. 5-Year Reoperation Risk and Causes for Revision After Idiopathic Scoliosis Surgery.

    PubMed

    Ahmed, Syed Imraan; Bastrom, Tracey P; Yaszay, Burt; Newton, Peter O

    2017-07-01

    An actuarial "survivorship" analysis. The aim of this study was to define the incidence and cause of surgical revision 5 years after scoliosis surgery. Data on contemporary revision surgery rates after idiopathic scoliosis surgery beyond the 2 years postoperatively in the adolescent and young adult population are limited. Patients enrolled in a prospective, multicenter, idiopathic scoliosis surgical registry from 1995 to 2009 were reviewed. Any spine reoperation was defined as a "terminal event." An actuarial survivorship analysis that adjusts for patients lost to follow-up was performed to determine cumulative survival. Time intervals were defined as 0 to <3 months, 3 months to <1 year, 1 to <2 years, 2 to <5 years, and 5 to 10 years. Registry data and radiographs were reviewed and five categories for reoperation assigned: 1) implant failure and/or pseudarthrosis, 2) implant misplacement and/or prominence, 3) wound complication and/or infection, 4) residual deformity and/or progression, and 5) other. One thousand four hundred thirty-five patients from 12 sites were included. The majority were female (80%), with major thoracic curves (76% Lenke 1-4), and average age of 15 ± 2 years (10-22) at surgery. Most had posterior spinal instrumentation and fusion (81%). At this time, 75 (5.2%) patients required reoperation. Twenty-two occurred within 3 months postop, 10 more before 1 year, 12 more before 2 years, another 20 by 5 years, and 10 more after 5 years. This corresponded to an actuarial cumulative survival of 98.3% at 3 months, 97.5% at 1 year, 96.6% at 2 years, 93.9% at 5 years, and 89.8% at the final interval (5-10 yrs). Revisions for scoliosis continue to occur well after 2 years with a 5-year survivorship of 93.9%. Reasons for reoperation are not uniformly distributed over time, with implant-related issues and infection the leading cause for early revision, while late infection was the most common cause after 2 years. Long-term follow-up of these

  3. Evidence for an agitated-aggressive syndrome in early-onset psychosis correlated with antisocial personality disorder, forensic history, and substance use disorder.

    PubMed

    Huber, Christian G; Hochstrasser, Lisa; Meister, Klara; Schimmelmann, Benno G; Lambert, Martin

    2016-08-01

    Agitation, aggression, and violence are increased in psychotic disorders. Additionally, an earlier age at onset may be associated with aggressive behavior. However, the relationship of age at onset, an agitated-aggressive syndrome as measured with the Positive And Negative Syndrome Scale for Schizophrenia - Excited Component (PANSS-EC), and its potential correlates in first-episode psychosis (FEP) has not been studied. This study assessed the association between age at onset, an agitated-aggressive syndrome, and its potential correlates in a prospective sample of 52 FEP patients with early-onset and adult-onset followed up for 12months. Twenty-six patients conformed to the criteria of early-onset psychosis. Early age at onset was associated with antisocial personality disorder (p=0.004; φc=0.39), a history of legal involvement (p=0.005; φc=0.39), and higher rates of lifetime substance use disorder (SUD; p=0.002; φc=0.42). Early-onset patients had significantly higher PANSS-EC scores over the course of observation (F(1,44.4)=5.39; p=0.025; d=0.656), but no significant group differences emerged for the remaining PANSS subscores. PANSS-EC scores were correlated positively with antisocial personality disorder and forensic history at 6weeks, 3months, 6months, and 12months, and with lifetime substance use disorder at 3months and 6months. Patients with early onset psychosis may have increased levels of agitation/aggressiveness, and, more likely, antisocial personality disorder, forensic history, and lifetime substance use disorder. These variables were linked to suicidality, aggressiveness, and involuntary treatment. Copyright © 2016 Elsevier B.V. All rights reserved.

  4. Postural Rehabilitation for Adolescent Idiopathic Scoliosis during Growth

    PubMed Central

    Weiss, Hans-Rudolf; Moramarco, Marc Michael; Borysov, Maksym; Lee, Sang Gil; Nan, Xiaofeng; Moramarco, Kathryn Ann

    2016-01-01

    Long-term follow-up of untreated patients with adolescent idiopathic scoliosis (AIS) indicates that, with the exception of some extremely severe cases, AIS does not have a significant impact on quality of life and does not result in dire consequences. In view of the relatively benign nature of AIS and the long-term complications of surgery, the indications for treatment should be reviewed. Furthermore, recent studies have shown that scoliosis-specific exercises focusing on postural rehabilitation can positively influence the spinal curvatures in growing adolescents. Experiential postural re-education is a conservative, non-invasive approach, and its role in the management of AIS warrants further study. This article reviews current evidence for the inclusion of various forms of postural reeducation in the management of AIS. Recent comprehensive reviews have been researched including a manual and PubMed search for evidence regarding the effectiveness of physical/postural re-education/physiotherapy programs in growing AIS patients. This search revealed that there were few studies on the application of postural re-education in the management of AIS. These studies revealed that postural re-education in the form of exercise rehabilitation programs may have a positive influence on scoliosis; however, the various programs were difficult to compare. More research is necessary. There is at present Level 1 evidence for the effectiveness of Schroth scoliosis exercises in the management of AIS. Whether this evidence can be extrapolated to include other forms of scoliosis- pattern-specific exercises requires further investigation. Because corrective postures theoretically reduce the asymmetric loading of the spinal deformities and reverse the vicious cycle of spinal curvature progression, their integration into AIS programs may be beneficial and should be further examined. PMID:27340540

  5. Football and dementia: A qualitative investigation of a community based sports group for men with early onset dementia.

    PubMed

    Carone, Laura; Tischler, Victoria; Dening, Tom

    2016-11-01

    This study investigates the impact of a weekly group providing sport and physical activities for men with early onset dementia established by Notts County Football in the Community (NCFC). There were three aims: to investigate the effect of early onset dementia on individuals with the condition and their carers; to examine the perceptions of current levels of service provision for people with early onset dementia; and to analyse the impact of the group. Men with dementia (n = 5) attending the sessions, their carers (n = 5), NCFC coaching staff (n = 5) and people organizing/facilitating the sessions (n = 5) were interviewed. Semi-structured interviews explored the participants' experiences of dementia, their opinions on current service provisions and on the sessions. Data were analysed using thematic analysis. Four main themes were found: loss related to the condition of dementia and its impact on relationships ('Loss'); lack of age-appropriate services for people with early onset dementia ('Lack of Resources'); enjoyment and positive anticipation related to the group for all involved ('Enjoyment and Anticipation'); and 'the Notts County Effect' which attributed the success of the sessions to the strong brand of the football club, and to personalized service in a "dementia-free" environment. The NCFC sessions provided a safe low-cost intervention with positive effects upon quality of life for both people with early onset dementia, their carers and the staff involved. This suggests that the service may be valuable to a wider range of people living in different areas. © The Author(s) 2014.

  6. Early-Onset Vemurafenib-Induced DRESS Syndrome.

    PubMed

    Munch, Marion; Peuvrel, Lucie; Brocard, Anabelle; Saint Jean, Mélanie; Khammari, Amir; Dreno, Brigitte; Quereux, Gaelle

    2016-01-01

    Vemurafenib is a BRAF inhibitor indicated in metastatic or unresectable melanoma in patients with BRAF mutations. Vemurafenib is frequently toxic, but the toxicity is often not serious. The third case of vemurafenib-induced drug rash with eosinophilia and systemic symptoms (DRESS) syndrome is reported herein. The case is unusual in that the onset was early, with symptoms emerging as of day 8 of treatment. Treatment of DRESS syndrome is not currently based on precise recommendations, but systemic corticosteroid therapy is effective in serious cases. Severe toxidermias under vemurafenib are exceptional; immediate discontinuation of treatment upon diagnosis is imperative. Switching from vemurafenib to dabrafenib then seems to constitute an interesting therapeutic alternative, since its efficacy is the same but with fewer cutaneous adverse reactions. This case highlights the importance of awareness of the risk of DRESS syndrome associated with vemurafenib and monitoring for warning signs from treatment initiation. © 2015 S. Karger AG, Basel.

  7. Treatment of Early-Onset Schizophrenia Spectrum Disorders (TEOSS): Demographic and Clinical Characteristics

    ERIC Educational Resources Information Center

    Frazier, Jean A.; McClellan, Jon; Findling, Robert L.; Vitiello, Benedetto; Anderson, Robert; Zablotsky, Benjamin; Williams, Emily; McNamara, Nora K.; Jackson, Joseph A.; Ritz, Louise; Hlastala, Stefanie A.; Pierson, Leslie; Varley, Jennifer A.; Puglia, Madeline; Maloney, Ann E.; Ambler, Denisse; Hunt-Harrison, Tyehimba; Hamer, Robert M.; Noyes, Nancy; Lieberman, Jeffrey A.; Sikich, Linmarie

    2007-01-01

    Objective: We examined baseline demographic and clinical profiles of youths enrolled from 2001 to 2006 in the publicly funded multicenter, randomized controlled trial Treatment of Early-Onset Schizophrenia Spectrum Disorders. Method: Youths (8-19 years) with schizophrenia (SZ) and schizoaffective disorder were recruited at four academic sites.…

  8. Neurological soft signs in juvenile patients with Asperger syndrome, early-onset psychosis, and healthy controls.

    PubMed

    Mayoral, María; Merchán-Naranjo, Jessica; Rapado, Marta; Leiva, Marta; Moreno, Carmen; Giráldez, Marisa; Arango, Celso; Parellada, Mara

    2010-11-01

    The study of neurological soft signs (NSS) in patients with Asperger syndrome may help us to elucidate the neurological basis of this disorder and to clarify its relationship with other neurodevelopmental disorders. The goal of this study was to compare the prevalence of NSS in a sample of patients with Asperger syndrome, early-onset psychosis and healthy controls. NSS were assessed by means of the Neurological Evaluation Scale in a sample of 29 patients with Asperger syndrome (mean age = 12.86 ± 2.58 years), 30 patients with first-episode early-onset psychoses (mean age 14.17 ± 1.02 years) and 30 healthy controls (mean age 12.33 ± 2.69 years). Significant group differences were found between Asperger syndrome patients and healthy controls both in all the Neurological Evaluation Scale subscales and in the Neurological Evaluation Scale total score. There were no significant differences between both groups of patients in any of the Neurological Evaluation Scale scores. NSS are more prevalent in Asperger syndrome than in healthy controls. The NSS profile was not disorder-specific in our samples of patients with Asperger syndrome and early-onset psychoses. © 2010 Blackwell Publishing Asia Pty Ltd.

  9. Back pain and scoliosis in children: When to image, what to consider.

    PubMed

    Calloni, Sonia F; Huisman, Thierry Agm; Poretti, Andrea; Soares, Bruno P

    2017-10-01

    Back pain and scoliosis in children most commonly present as benign and self-limited entities. However, persistent back pain and/or progressive scoliosis should always be taken seriously in children. Dedicated diagnostic work-up should exclude etiologies that may result in significant morbidity. Clinical evaluation and management require a comprehensive history and physical and neurological examination. A correct imaging approach is important to define a clear diagnosis and should be reserved for children with persistent symptoms or concerning clinical and laboratory findings. This article reviews the role of different imaging techniques in the diagnostic approach to back pain and scoliosis, and offers a comprehensive review of the main imaging findings associated with common and uncommon causes of back pain and scoliosis in the pediatric population.

  10. Does Diagnostic Classification of Early-Onset Psychosis Change over Follow-Up?

    ERIC Educational Resources Information Center

    Fraguas, David; de Castro, Maria J.; Medina, Oscar; Parellada, Mara; Moreno, Dolores; Graell, Montserrat; Merchan-Naranjo, Jessica; Arango, Celso

    2008-01-01

    Objective: To examine the diagnostic stability and the functional outcome of patients with early-onset psychosis (EOP) over a 2-year follow-up period. Methods: A total of 24 patients (18 males (75%) and 6 females (25%), mean age [plus or minus] SD: 15.7 [plus or minus] 1.6 years) with a first episode of EOP formed the sample. Psychotic symptoms…

  11. Intrathecal Baclofen Therapy in a Child With Severe Scoliosis: Report of 2 Cases.

    PubMed

    Sasaki, Natsu; Ogiwara, Hideki

    2016-08-01

    Scoliosis is commonly found in children with cerebral palsy. Many patients with cerebral palsy and scoliosis undergo intrathecal baclofen (ITB) pump placement. The authors report 2 cases with cerebral palsy and severe scoliosis treated with intrathecal baclofen. The case of a 7-year-old boy with shunted hydrocephalus required surgical revision of the intrathecal catheter, while the other patient without shunt did not require revision. In the patient with shunted hydrocephalus, after the initial placement of baclofen pump and catheter at Th3 level, spasticity of lower extremities did not improve. The Indium(111) diethylenetriamine pentaacetic acid (In(111) DTPA) scintigraphy with injection of In(111) DTPA through the pump did not demonstrate distribution of the tracer to the lumbosacral area. Conversely, by direct injection of In(111) DTPA through lumbar puncture, the tracer distributed in the whole spinal canal. Replacement of the tip of the catheter caudal to the curve of the scoliosis improved the symptom. The authors suggest that, in patients with severe scoliosis and shunted hydrocephalus, it may be necessary to place the tip of the catheter caudal to the curve of the scoliosis for correction of spasticity of lower extremities. © 2016 International Neuromodulation Society.

  12. Scoliosis convexity and organ anatomy are related.

    PubMed

    Schlösser, Tom P C; Semple, Tom; Carr, Siobhán B; Padley, Simon; Loebinger, Michael R; Hogg, Claire; Castelein, René M

    2017-06-01

    Primary ciliary dyskinesia (PCD) is a respiratory syndrome in which 'random' organ orientation can occur; with approximately 46% of patients developing situs inversus totalis at organogenesis. The aim of this study was to explore the relationship between organ anatomy and curve convexity by studying the prevalence and convexity of idiopathic scoliosis in PCD patients with and without situs inversus. Chest radiographs of PCD patients were systematically screened for existence of significant lateral spinal deviation using the Cobb angle. Positive values represented right-sided convexity. Curve convexity and Cobb angles were compared between PCD patients with situs inversus and normal anatomy. A total of 198 PCD patients were screened. The prevalence of scoliosis (Cobb >10°) and significant spinal asymmetry (Cobb 5-10°) was 8 and 23%, respectively. Curve convexity and Cobb angle were significantly different within both groups between situs inversus patients and patients with normal anatomy (P ≤ 0.009). Moreover, curve convexity correlated significantly with organ orientation (P < 0.001; ϕ = 0.882): In 16 PCD patients with scoliosis (8 situs inversus and 8 normal anatomy), except for one case, matching of curve convexity and orientation of organ anatomy was observed: convexity of the curve was opposite to organ orientation. This study supports our hypothesis on the correlation between organ anatomy and curve convexity in scoliosis: the convexity of the thoracic curve is predominantly to the right in PCD patients that were 'randomized' to normal organ anatomy and to the left in patients with situs inversus totalis.

  13. Long-term neurological outcome in children with early-onset epilepsy associated with tuberous sclerosis.

    PubMed

    Cusmai, Raffaella; Moavero, Romina; Bombardieri, Roberta; Vigevano, Federico; Curatolo, Paolo

    2011-12-01

    In tuberous sclerosis complex, early seizure onset is associated with high risk of intractable epilepsy and cognitive/behavioral impairment. We retrospectively evaluated the long-term outcome of 44 infants presenting with seizures in the first 12 months who received vigabatrin, and were followed up for at least 3.5 years. At the final evaluation 55% of patients were still having seizures, 80% had intellectual disability, and 30% had autism. Sixty-five percent of children who had been treated earlier with vigabatrin after seizure onset achieved seizure freedom, compared with 24% of subjects who received vigabatrin treatment later (P<0.01). Intellectual disability was present in 61% of the children treated early (group A) and in 100% of the children treated later (group B). Nine percent of group A and 52% of group B had autism (P≈0.001). A shorter gap between seizure onset and start of treatment could reduce the risk of epileptic encephalopathy, minimizing the deleterious effect of seizures, but is not able to completely reverse the tuberous sclerosis complex-associated cognitive impairment. Copyright © 2011 Elsevier Inc. All rights reserved.

  14. Two Novel Mutations in the GDAP1 and PRX Genes in Early Onset Charcot-Marie-Tooth Syndrome

    PubMed Central

    Auer-Grumbach, M.; Fischer, C.; Papić, L.; John, E.; Plecko, B.; Bittner, R. E.; Bernert, G.; Pieber, T. R.; Miltenberger, G.; Schwarz, R.; Windpassinger, C.; Grill, F.; Timmerman, V.; Speicher, M. R.; Janecke, A. R.

    2011-01-01

    Autosomal recessive Charcot-Marie-Tooth syndrome (AR-CMT) is often characterised by an infantile disease onset and a severe phenotype. Mutations in the ganglioside-induced differentiation-associated protein 1 (GDAP1) gene are thought to be a common cause of AR-CMT. Mutations in the periaxin (PRX) gene are rare. They are associated with severe demyelination of the peripheral nerves and sometimes lead to prominent sensory disturbances. To evaluate the frequency of GDAP1 and PRX mutations in early onset CMT, we examined seven AR-CMT families and 12 sporadic CMT patients, all presenting with progressive distal muscle weakness and wasting. In one family also prominent sensory abnormalities and sensory ataxia were apparent from early childhood. In three families we detected four GDAP1 mutations (L58LfsX4, R191X, L239F and P153L), one of which is novel and is predicted to cause a loss of protein function. In one additional family with prominent sensory abnormalities a novel homozygous PRX mutation was found (A700PfsX17). No mutations were identified in 12 sporadic cases. This study suggests that mutations in the GDAP1 gene are a common cause of early-onset AR-CMT. In patients with early-onset demyelinating AR-CMT and severe sensory loss PRX is one of the genes to be tested. PMID:18504680

  15. Emerging S-shaped curves in congenital scoliosis after hemivertebra resection and short segmental fusion.

    PubMed

    Yang, Xi; Song, Yueming; Liu, Limin; Zhou, Chunguang; Zhou, Zhongjie; Wang, Lei; Wang, Liang

    2016-10-01

    Posterior hemivertebra resection with short fusion has gradually become the mainstream treatment for the congenital scoliosis due to single fully segmented hemivertebra. A kind of unexpected emerging S-shaped scoliosis was found secondary to this surgery, and that has not been reported yet. The aim of the present study was to analyze the possible pathogenesis, clinical feature, and treatment of the emerging S-shaped scoliosis after posterior hemivertebra resection and short fusion. This study is a retrospective case series. A total of 128 patients participated. Preoperative and postoperative whole spine radiographs were used to measure the Cobb angle of main curve, compensatory curve, and emerging curves. And the hemivertebra location, the fused segment, the apical and ending vertebrae of postoperative-emerging curve (and preoperative compensatory curves) were assessed. Both the demographics and radiographic data were reviewed. Postoperative-emerging scoliosis was defined as the curve with an increasing angle of 20° and an apical vertebra locating at least two levels away from fusion region. Of the 128 patients, 9 (7%) showed postoperative-emerging S-shaped scoliosis. The mean age was 11.4 years old. The mean main curve was 36.1±14.4° preoperatively and been significantly corrected to 6.9±6.1° (p<.001). No significant difference was found in the main curve, kyphosis, coronal balance, or sagittal balance during follow-up. The emerging scoliosis occurred at 3 months (in four patients) or 6 months (in five patients) after initial surgery with an average angle of 42.6±12.9° at last follow-up. All patients underwent bracing or observation when the S-shaped scoliosis was arising, and four patients underwent a revision surgery because of deformity developing. The emerging S-shaped scoliosis was an extraordinary complication that may be developing from the preoperative compensatory scoliosis and usually occurred at 3-6 months after hemivertebra resection. The

  16. Scoliosis curve type classification using kernel machine from 3D trunk image

    NASA Astrophysics Data System (ADS)

    Adankon, Mathias M.; Dansereau, Jean; Parent, Stefan; Labelle, Hubert; Cheriet, Farida

    2012-03-01

    Adolescent idiopathic scoliosis (AIS) is a deformity of the spine manifested by asymmetry and deformities of the external surface of the trunk. Classification of scoliosis deformities according to curve type is used to plan management of scoliosis patients. Currently, scoliosis curve type is determined based on X-ray exam. However, cumulative exposure to X-rays radiation significantly increases the risk for certain cancer. In this paper, we propose a robust system that can classify the scoliosis curve type from non invasive acquisition of 3D trunk surface of the patients. The 3D image of the trunk is divided into patches and local geometric descriptors characterizing the surface of the back are computed from each patch and forming the features. We perform the reduction of the dimensionality by using Principal Component Analysis and 53 components were retained. In this work a multi-class classifier is built with Least-squares support vector machine (LS-SVM) which is a kernel classifier. For this study, a new kernel was designed in order to achieve a robust classifier in comparison with polynomial and Gaussian kernel. The proposed system was validated using data of 103 patients with different scoliosis curve types diagnosed and classified by an orthopedic surgeon from the X-ray images. The average rate of successful classification was 93.3% with a better rate of prediction for the major thoracic and lumbar/thoracolumbar types.

  17. The costs and benefits of nonoperative management for adult scoliosis.

    PubMed

    Glassman, Steven D; Carreon, Leah Y; Shaffrey, Christopher I; Polly, David W; Ondra, Stephen L; Berven, Sigurd H; Bridwell, Keith H

    2010-03-01

    A prospective cohort of adult scoliosis patients treated nonoperatively had a minimum of 2-year follow-up during which time data were collected on the type and quantity of nonoperative treatment used. To quantify the use, cost, and effectiveness of nonoperative treatment for adult scoliosis. A 2007 systematic review of nonsurgical treatment in adult scoliosis revealed minimal data, and concluded that evidence for nonoperative care was lacking. Duration of use and frequency of visits were collected for 8 specific treatment methods: medication, physical therapy, exercise, injections/blocks, chiropractic care, pain management, bracing, and bed rest. Costs for each intervention were determined using the Medicare Fee schedule. Outcome measures were the SRS-22, SF-12, and ODI. Analysis was performed for the entire group, and for subsets of high (ODI, >40), mid (ODI = 21-40) and low (ODI, scoliosis patients who received no treatment, the only significant change in HRQOL measures over the 2-year period was in SRS satisfaction subscore (0.3 points, P = 0.014). Among the 68 adult scoliosis patients who used nonoperative resources, there was no significant change in any of the HRQOL outcome parameters. Mean treatment cost over the 2-year period was $10,815. Mean cost over the 2-year period averaged $9704 in the low symptom patients, $11,116 in the mid symptom, and $14,022 in the high symptom patients. This study questions the value of nonoperative treatment commonly used for adult scoliosis patients. Documented costs are substantial and no improvement in health status was observed. An important caveat is that treatment was not randomized and therefore the treatment group might have deteriorated if not for the treatment they received.

  18. Health-related quality of life and low back pain of patients surgically treated for scoliosis after 21 years or more of follow-up: comparison among nonidiopathic scoliosis, idiopathic scoliosis, and healthy subjects.

    PubMed

    Akazawa, Tsutomu; Minami, Shohei; Kotani, Toshiaki; Nemoto, Tetsuharu; Koshi, Takana; Takahashi, Kazuhisa

    2012-10-15

    A case-control study. To compare health-related quality of life and low back pain of healthy subjects with those of patients with nonidiopathic scoliosis (non-IS) and idiopathic scoliosis (IS) 21 years or more after surgery. There have been a very small number of reports on long-term results of surgery for non-IS. There have not been any reports that compare non-IS, IS, and healthy subjects. The subjects with scoliosis were 602 patients who had undergone surgery between 1968 and 1988. The Scoliosis Research Society Patient Questionnaire (SRS-22), Roland-Morris Disability Questionnaire (RDQ), and our institution's original questionnaire were used for evaluating long-term clinical outcomes. The 136 respondents consisted of 56 patients with non-IS (non-IS group) and 80 patients with IS (IS group). The control group (CTR group) consisted of 80 healthy volunteers who were age- and body mass index-matched to the scoliosis groups. In the SRS-22, the 3 groups had no significant differences in pain and mental health. For function and self-image, the non-IS group and the IS group had a significantly lower score than the CTR group. In the RDQ, the non-IS group had significantly more severe low back pain than the CTR group. There was no significant difference in low back pain between the non-IS group and IS group or between the IS group and CTR group. The non-IS group had a significantly lower marriage rate than the IS and CTR groups. The patients with non-IS and IS had similar health-related quality of life and low back pain. The patients with non-IS were found to have lower function and self-image in the SRS-22 questionnaire and more severe low back pain in the RDQ than healthy subjects. The patients with non-IS had a significantly lower marriage rate than the other 2 groups.

  19. The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy

    PubMed Central

    Fehr, Stephanie; Wilson, Meredith; Downs, Jenny; Williams, Simon; Murgia, Alessandra; Sartori, Stefano; Vecchi, Marilena; Ho, Gladys; Polli, Roberta; Psoni, Stavroula; Bao, Xinhua; de Klerk, Nick; Leonard, Helen; Christodoulou, John

    2013-01-01

    The clinical understanding of the CDKL5 disorder remains limited, with most information being derived from small patient groups seen at individual centres. This study uses a large international data collection to describe the clinical profile of the CDKL5 disorder and compare with Rett syndrome (RTT). Information on individuals with cyclin-dependent kinase-like 5 (CDKL5) mutations (n=86) and females with MECP2 mutations (n=920) was sourced from the InterRett database. Available photographs of CDKL5 patients were examined for dysmorphic features. The proportion of CDKL5 patients meeting the recent Neul criteria for atypical RTT was determined. Logistic regression and time-to-event analyses were used to compare the occurrence of Rett-like features in those with MECP2 and CDKL5 mutations. Most individuals with CDKL5 mutations had severe developmental delay from birth, seizure onset before the age of 3 months and similar non-dysmorphic features. Less than one-quarter met the criteria for early-onset seizure variant RTT. Seizures and sleep disturbances were more common than in those with MECP2 mutations whereas features of regression and spinal curvature were less common. The CDKL5 disorder presents with a distinct clinical profile and a subtle facial, limb and hand phenotype that may assist in differentiation from other early-onset encephalopathies. Although mutations in the CDKL5 gene have been described in association with the early-onset variant of RTT, in our study the majority did not meet these criteria. Therefore, the CDKL5 disorder should be considered separate to RTT, rather than another variant. PMID:22872100

  20. A Modern Historical Perspective of Schroth Scoliosis Rehabilitation and Corrective Bracing Techniques for Idiopathic Scoliosis.

    PubMed

    Moramarco, Kathryn; Borysov, Maksym

    2017-01-01

    The treatment of scoliosis has a long history dating back to Hippocrates and his luxation table. In recent history, conservative rehabilitation treatment methods have come and gone. Some have had more longevity than others and currently there are only a handful of these "schools" for rehabilitation in existence. What is important to note in this twenty-first century world is that any approach to bracing or scoliosis rehabilitation must strive for a correction effect and be as user-friendly as possible. Patients look to achieve some measure of success, whether it be halted Cobb angle, improved breathing function, decreased rotation, or postural improvement via trunk symmetry. Katharina Schroth created her method in 1921 as a result of self-analysis of her own imperfect scoliotic torso and the effect on it as she altered her breathing patterns. It was from these observations and self-experimentation that she devised her rotational angular breathing method. Subsequently, the Schroth method evolved under the leadership of her daughter, Christa Lehnert-Schroth P.T., and grandson, Dr. Hans-Rudolf Weiss. Collaboration with Dr. Jacques Chêneau led to a new Schroth method compatible scoliosis bracing approach. The most recent advancement of Chêneau bracing is the Gensingen Brace® (GBW). Gensingen braces have an asymmetric design and rely on Schroth principles of correction in a smaller, lighter, more wearer-friendly brace. Each brace is designed to be a complementary supportive orthosis. It may be used independently, or in conjunction with Schroth exercise protocols.

  1. Intraoperative visible bubbling of air may be the first sign of venous air embolism during posterior surgery for scoliosis.

    PubMed

    Wills, John; Schwend, Richard M; Paterson, Andrew; Albin, Maurice S

    2005-10-15

    Case report of two children sustaining venous air embolism (VAE) during posterior surgery for scoliosis. To report 2 cases where visible bubbling at the operative site was the first clinical indication of VAE-induced cardiovascular collapse and to raise the level of consciousness that VAE in the prone position can occur, often with serious consequences. Twenty-two cases of VAE during surgery for scoliosis in the prone position have been reported. Ten were fatal and ten were in children. Visible bubbling at the operative site was noted in two published cases. Retrospective study of 2 cases of VAE at one institution. Clinical, anesthetic, and radiographic features are presented. Details of previously published cases are reviewed and discussed. Both patients were girls with adolescent scoliosis who underwent prone positioned posterior spinal fusion with instrumentation. Visible bubbling of air at the thoracic aspect of the surgical site was noted near the completion of instrumentation and was the first indication of VAE. In both cases, this was clinically recognized and promptly treated. One patient survived normally and the other died. Visible air bubbling at the operative site may herald the onset of massive VAE during multilevel posterior spinal fusion and instrumentation. A prospective multicenter study using precordial Doppler, central venous catheter, and end-tidal CO2 is recommended to determine the true incidence of VAE in spinal deformity surgery and to evaluate monitoring and treatment methods.

  2. Low hospital referral rates of school scoliosis screening positives in an urban district of mainland China.

    PubMed

    Guo, Yawen; Jiang, Qingwu; Tanimoto, Tetsuya; Kami, Masahiro; Luo, Chunyan; Leppold, Claire; Nishimura, Koichi; He, Yongpin; Kato, Shigeaki; Ding, Xiaocang

    2017-04-01

    Significant prevalence rates of adolescent scoliosis in China were suggested in previous studies. However, school screenings for adolescent scoliosis have been suspended due to low rates of positive detection under the past screening system in China. The present study was undertaken to screen for adolescent scoliosis in middle school students under a modern assessment system in a district of Shanghai. We performed a population-based, cross-sectional study of a middle school scoliosis screening program in the Jingan district. In 2015, schoolchildren were initially screened by visual inspection of clinical signs and the forward-bending test. Suspected cases were referred for radiography in hospital for scoliosis diagnosis. A total of 5327 middle school students (grades 6-8) were screened with 520 (9.76%) positives (the positive rates of girls and boys at 15.28% and 4.59%, respectively) and no statistically significant difference among grades. Only 301 positives (57.9%) followed the referral for hospital radiography. There were 102 cases (33.9%) that were diagnosed with scoliosis by radiography criteria (Cobb angle ≥10°) including mild scoliosis (Cobb 10-25) for 94 cases and moderate scoliosis (Cobb 25-40) for 8 cases, and false-positives (Cobb 0) for 39 cases. The putative prevalence rate was estimated as 1.9% from the referred students. Under an accurate and modern assessment system, school screenings can detect scoliosis at a significant rate, but awareness of scoliosis risks is needed for residents in China to take up referrals for hospital diagnosis after school screenings.

  3. Allelic association at the D14S43 locus in early onset Alzheimer`s disease

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Brice, A.; Tardieu, S.; Campion, D.

    1995-04-24

    The D14S43 marker is closely linked to the major gene for early onset autosomal dominant Alzheimer`s disease on chromosome 14. Allelic frequencies at the D14S43 locus were compared in 113 familial and isolated cases of early onset Alzheimer`s disease (<60 years of age at onset) (EOAD) and 109 unaffected individuals of the same geographic origin. Allele 7 was significantly (P = 0.033) more frequent in type 1 EOAD patients (13.2%), defined by the presence of at least another first degree relative with EOAD, than in controls (4.1%). Since an autosomal dominant gene is probably responsible for type 1 patients, allelicmore » association may reflect linkage disequilibrium at the D14S43 locus. This would mean that some patients share a common ancestral mutation. However, since multiple tests were carried out, this result must be interpreted with caution, and needs confirmation in an independent sample. 16 refs., 2 tabs.« less

  4. Small vertebral cross-sectional area and tall intervertebral disc in adolescent idiopathic scoliosis.

    PubMed

    Ponrartana, Skorn; Fisher, Carissa L; Aggabao, Patricia C; Chavez, Thomas A; Broom, Alexander M; Wren, Tishya A L; Skaggs, David L; Gilsanz, Vicente

    2016-09-01

    When compared to boys, girls have smaller vertebral cross-sectional area, which conveys a greater spinal flexibility, and a higher prevalence of adolescent idiopathic scoliosis. To test the hypothesis that small vertebral cross-sectional area and tall intervertebral disc height are structural characteristics of patients with adolescent idiopathic scoliosis. Using multiplanar imaging techniques, measures of vertebral cross-sectional area, vertebral height and intervertebral disc height in the lumbar spine were obtained in 35 pairs of girls and 11 pairs of boys with and without adolescent idiopathic scoliosis of the thoracic spine matched for age, height and weight. Compared to adolescents without spinal deformity, girls and boys with adolescent idiopathic scoliosis had, on average, 9.8% (6.68 ± 0.81 vs. 7.40 ± 0.99 cm(2); P = 0.0007) and 13.9% (8.22 ± 0.84 vs. 9.55 ± 1.61 cm(2); P = 0.009) smaller vertebral cross-sectional dimensions, respectively. Additionally, patients with adolescent idiopathic scoliosis had significantly greater values for intervertebral disc heights (9.06 ± 0.85 vs. 7.31 ± 0.62 mm and 9.09 ± 0.87 vs. 7.61 ± 1.00 mm for girls and boys respectively; both P ≤ 0.011). Multiple regression analysis indicated that the presence of scoliosis was negatively associated with vertebral cross-sectional area and positively with intervertebral disc height, independent of sex, age and body mass index. We provide new evidence that girls and boys with adolescent idiopathic scoliosis have significantly smaller vertebral cross-sectional area and taller intervertebral disc heights - two major structural determinants that influence trunk flexibility. With appropriate validation, these findings may have implications for the identification of children at the highest risk for developing scoliosis.

  5. Problem drinking among Flemish students: beverage type, early drinking onset and negative personal & social consequences.

    PubMed

    De Bruyn, Sara; Wouters, Edwin; Ponnet, Koen; Van Damme, Joris; Maes, Lea; Van Hal, Guido

    2018-02-12

    Although alcohol is socially accepted in most Western societies, studies are clear about its associated negative consequences, especially among university and college students. Studies on the relationship between alcohol-related consequences and both beverage type and drinking onset, however, are scarce, especially in a European context. The aim of this research was, therefore, twofold: (1) What is the relationship between beverage type and the negative consequences experienced by students? and (2) Are these consequences determined by early drinking onset? We will examine these questions within the context of a wide range of alcohol-related consequences. The analyses are based on data collected by the inter-university project 'Head in the clouds?', measuring alcohol use among students in Flanders (Belgium). In total, a large dataset consisting of information from 19,253 anonymously participating students was available. Negative consequences were measured using a shortened version of the Core Alcohol and Drug Survey (CADS_D). Data were analysed using negative binomial regression. Results vary depending on the type of alcohol-related consequences: Personal negative consequences occur frequently among daily beer drinkers. However, a high rate of social negative consequences was recorded for both daily beer drinkers and daily spirits drinkers. Finally, early drinking onset was significantly associated with both personal and social negative consequences, and this association was especially strong between beer and spirits drinking onset and social negative consequences. Numerous negative consequences, both personal and social, are related to frequent beer and spirits drinking. Our findings indicate a close association between drinking beer and personal negative consequences as well as between drinking beer and/or spirits and social negative consequences. Similarly, early drinking onset has a major influence on the rates of both personal and social negative consequences

  6. Early and Real-Time Detection of Seasonal Influenza Onset

    PubMed Central

    Marques-Pita, Manuel

    2017-01-01

    Every year, influenza epidemics affect millions of people and place a strong burden on health care services. A timely knowledge of the onset of the epidemic could allow these services to prepare for the peak. We present a method that can reliably identify and signal the influenza outbreak. By combining official Influenza-Like Illness (ILI) incidence rates, searches for ILI-related terms on Google, and an on-call triage phone service, Saúde 24, we were able to identify the beginning of the flu season in 8 European countries, anticipating current official alerts by several weeks. This work shows that it is possible to detect and consistently anticipate the onset of the flu season, in real-time, regardless of the amplitude of the epidemic, with obvious advantages for health care authorities. We also show that the method is not limited to one country, specific region or language, and that it provides a simple and reliable signal that can be used in early detection of other seasonal diseases. PMID:28158192

  7. Early-onset schizophrenia: Symptoms and social class of origin.

    PubMed

    Gallagher, Bernard J; Jones, Brian J

    2017-09-01

    The genesis of schizophrenia is multifactorial, including biological and environmental risk factors. We tested for an interactive effect between early-onset schizophrenia (EOS) and social class of origins (socioeconomic status (SES)). Data were further analyzed for a possible connection to type of schizophrenic symptoms. Sampling/Methods: Data for the study are taken from the medical records of 642 patients from a large state hospital in the northeastern United States. Clinical assessments were divided into positive and negative symptomatology through application of the Scale for the Assessment of Negative Symptoms (SANS), the Scale for the Assessment of Positive Symptoms (SAPS) and the Positive and Negative Syndrome Scale (PANSS). Detailed information about age of onset and SES of origin was obtained through Social Service Assessment interviews. We uncovered a significant impact of EOS among the poor that elevates risk for negative symptomatology. Poor SES alone does not increase the likelihood of EOS, but it magnifies the deleterious effect of EOS on negative symptoms. Future research on these variables may inform the relative contribution of each.

  8. Influence of Cobb Angle and ISIS2 Surface Topography Volumetric Asymmetry on Scoliosis Research Society-22 Outcome Scores in Scoliosis.

    PubMed

    Brewer, Paul; Berryman, Fiona; Baker, De; Pynsent, Paul; Gardner, Adrian

    2013-11-01

    Retrospective sequential patient series. To establish the relationship between the magnitude of the deformity in scoliosis and patients' perception of their condition, as measured with Scoliosis Research Society-22 scores. A total of 93 untreated patients with adolescent idiopathic scoliosis were included retrospectively. The Cobb angle was measured from a plain radiograph, and volumetric asymmetry was measured by ISIS2 surface topography. The association between Scoliosis Research Society scores for function, pain, self-image, and mental health against Cobb angle and volumetric asymmetry was investigated using the Pearson correlation coefficient. Correlation of both Cobb angle and volumetric asymmetry with function and pain was weak (all < .23); these correlation values were not statistically significant. Correlation of Cobb angle and volumetric asymmetry with self-image, was higher, although still moderate (-.37 for Cobb angle and -.44 for volumetric asymmetry). Both were statistically significant (Cobb angle, p = .0002; volumetric asymmetry; p = .00001). Cobb angle contributed 13.8% to the linear relationship with self-image, whereas volumetric asymmetry contributed 19.3%. For mental health, correlation was statistically significant with Cobb angle (p = .011) and volumetric asymmetry (p = .0005), but the correlation was low to moderate (-.26 and -.35, respectively). Cobb angle contributed 6.9% to the linear relationship with mental health, whereas volumetric asymmetry contributed 12.4%. Volumetric asymmetry correlates better with both mental health and self-image compared with Cobb angle, but the correlation was only moderate. This study suggests that a patient's own perception of self-image and mental health is multifactorial and not completely explained through present objective measurements of the size of the deformity. This helps to explain the difficulties in any objective analysis of a problem with multifactorial perception issues. Further study is

  9. Idiopathic scoliosis: the tethered spine II: post-surgical pain.

    PubMed

    Whyte Ferguson, Lucy

    2014-10-01

    The treatment of severe chronic pain in young people following surgery for the correction of curvatures of idiopathic scoliosis (IS) is presented through two case histories. Effective treatment involved release of myofascial trigger points (TrPs) known to refer pain into the spine, and treatment of related fascia and joint dysfunction. The TrPs found to be contributing to spinal area pain were located in muscles at some distance from the spine rather than in the paraspinal muscles. Referred pain from these TrPs apparently accounted for pain throughout the base of the neck and thoracolumbar spine. Exploratory surgery was considered for one patient to address pain following rod placement but the second surgery became unnecessary when the pain was controlled with treatment of the myofascial pain and joint dysfunction. The other individual had both scoliosis and hyperkyphosis, had undergone primary scoliosis surgery, and subsequently underwent a second surgery to remove hardware in an attempt to address her persistent pain following the initial surgery (and because of dislodged screws). The second surgery did not, however, reduce her pain. In both cases these individuals, with severe chronic pain following scoliosis corrective surgery, experienced a marked decrease of pain after myofascial treatment. As will be discussed below, despite the fact that a significant minority of individuals who have scoliosis corrective surgery are thought to require a second surgery, and despite the fact that pain is the most common reason leading to such revision surgery, myofascial pain syndrome (MPS) had apparently not previously been considered as a possible factor in their pain. Copyright © 2014 Elsevier Ltd. All rights reserved.

  10. Facial emotion identification in early-onset and first-episode psychosis: a systematic review with meta-analysis.

    PubMed

    Barkl, Sophie J; Lah, Suncica; Harris, Anthony W F; Williams, Leanne M

    2014-10-01

    Patients with chronic schizophrenia are characterized by deficits in identifying facial expressions of emotion, and these deficits relate to impaired social and occupational function. It is not yet known if these deficits are trait-like and present at the onset of psychosis, preceding a subsequent diagnosis of schizophrenia. Our objective was to systematically review and analyze the extant literature to assess if there is a consistent profile of emotion identification problems in early-onset and first-episode psychosis. We conducted a systematic review and meta-analysis of 12 peer-reviewed studies of facial emotion identification in early-onset and first-episode psychosis, published between 1980 and March 2013. We examined the average mean difference between patients and controls on measures of facial emotion identification. Findings suggest that patients with early-onset and first-episode psychosis have impairment in identifying facial expressions of biologically salient emotion. Across the 12 studies, the onset of psychosis was distinguished by a generalized effect of significantly poorer accuracy for identifying facial expressions of emotion than healthy controls, and this difference had a substantial effect size (d=-0.88, N=378, 95% CI=-1.42 to -0.32). Within this general effect some emotions were also harder for patients to identify than others, with the magnitude of impairment found to be (i) large for disgust, fear and surprise, and (ii) medium for sadness, and happiness. No between groups mean differences were found for anger or neutral facial expressions. Deficits in facial emotion identification are evident at first onset of a psychotic episode. The findings suggest that, over and above a generalized deficit in identifying facial emotion, patients may find some emotions harder to identifying than others. This reflects findings with chronic schizophrenia populations and suggests that emotion identification impairment represents a trait susceptibility

  11. Sensorineural hearing loss--a common finding in early-onset type 2 diabetes mellitus.

    PubMed

    Lerman-Garber, Israel; Cuevas-Ramos, Daniel; Valdés, Samantha; Enríquez, Lorena; Lobato, Marlette; Osornio, Melannie; Escobedo, Ana Rosa; Pascual-Ramos, Virginia; Mehta, Roopa; Ramírez-Anguiano, Jacqueline; Gómez-Pérez, Francisco J

    2012-01-01

    To evaluate the prevalence and potential associations of hearing impairment in patients 30 to 50 years old with diabetes diagnosed before age 40 years-early-onset type 2 diabetes mellitus (T2DM). The study cohorts consisted of 46 consecutive patients with early-onset T2DM and 47 age-matched control subjects with rheumatoid arthritis. All study subjects completed clinical, serologic, and auditory assessments. The patients with T2DM had a mean age of 42 ± 6 years and a mean disease duration of 11 ± 6 years. Microalbuminuria was present in 26.1%, proliferative retinopathy in 26.1%, and symptomatic peripheral neuropathy in 23.9%. The prevalence of unilateral or bilateral hearing loss was significantly higher in the patients with T2DM than in the patients with rheumatoid arthritis (21.7% versus 6.4%, respectively; P = .01). Most cases of hearing loss were mild and involved high or acute tones. After multivariate analysis with adjustment for age, there was a significant association between hearing loss and hemoglobin A1c (odds ratio, 1.3; 95% confidence interval, 1.02 to 1.81; P = .035). In the patients with T2DM, the lengthening of the brainstem response was not significantly increased; however, the wave morphologic features were abnormal and the reproducibility was poor in both ears in 11 patients (24%). Patients with early-onset T2DM and poor glycemic control have an increased prevalence of subclinical hearing loss and impaired auditory brainstem responses. Hearing impairment may be an underrecognized complication of diabetes.

  12. Internet-Delivered, Family-Based Treatment for Early-Onset OCD: A Preliminary Case Series

    PubMed Central

    Comer, Jonathan S.; Furr, Jami M.; Cooper-Vince, Christine E.; Kerns, Caroline E.; Chan, Priscilla T.; Edson, Aubrey L.; Khanna, Muniya; Franklin, Martin E.; Garcia, Abbe M.; Freeman, Jennifer B.

    2014-01-01

    Given the burdens of early-onset obsessive-compulsive disorder (OCD), limitations in the broad availability and accessibility of evidence-based care for affected youth present serious public health concerns. The growing potential for technological innovations to transform care for the most traditionally remote and underserved families holds enormous promise. This article presents the rationale, key considerations, and a preliminary case series for a promising behavioral telehealth innovation in the evidence-based treatment of early-onset OCD. We developed an Internet-based format for the delivery of family-based treatment for early-onset OCD directly to families in their homes, regardless of their geographic proximity to a mental health facility. Videoteleconferencing (VTC) methods were used to deliver real-time cognitive-behavioral therapy centering on exposure and response prevention to affected families. Participants in the preliminary case series included 5 children between the ages of 4 and 8 (MAge = 6.5) who received the Internet-delivered treatment format. All youth completed a full treatment course, all showed OCD symptom improvements and global severity improvements from pre- to posttreatment, all showed at least partial diagnostic response, and 60% no longer met diagnostic criteria for OCD at posttreatment. No participants got worse, and all mothers characterized the quality of services received as “excellent.” The present work adds to a growing literature supporting the potential of VTC and related computer technology for meaningfully expanding the reach of supported treatments for OCD and lays the foundation for subsequent controlled evaluations to evaluate matters of efficacy and engagement relative to standard in-office evidence-based care. PMID:24295036

  13. Exercises for adolescent idiopathic scoliosis.

    PubMed

    Romano, Michele; Minozzi, Silvia; Bettany-Saltikov, Josette; Zaina, Fabio; Chockalingam, Nachiappan; Kotwicki, Tomasz; Maier-Hennes, Axel; Negrini, Stefano

    2012-08-15

    Adolescent idiopathic scoliosis (AIS) is a three-dimensional deformity of the spine . While AIS can progress during growth and cause a surface deformity, it is usually not symptomatic. However, in adulthood, if the final spinal curvature surpasses a certain critical threshold, the risk of health problems and curve progression is increased. The use of scoliosis-specific exercises (SSE) to reduce progression of AIS and postpone or avoid other more invasive treatments is controversial. To evaluate the efficacy of SSE in adolescent patients with AIS. The following databases (up to 30 March 2011) were searched with no language limitations: CENTRAL (The Cochrane Library 2011, issue 2), MEDLINE (from January 1966), EMBASE (from January 1980), CINHAL (from January 1982), SportDiscus (from January 1975), PsycInfo (from January 1887), PEDro (from January 1929). We screened reference lists of articles and also conducted an extensive handsearch of grey literature. Randomised controlled trials and prospective cohort studies with a control group comparing exercises with no treatment, other treatment, surgery, and different types of exercises. Two review authors independently selected studies, assessed risk of bias and extracted data. Two studies (154 participants) were included. There is low quality evidence from one randomised controlled study that exercises as an adjunctive to other conservative treatments increase the efficacy of these treatments (thoracic curve reduced: mean difference (MD) 9.00, (95% confidence interval (CI) 5.47 to 12.53); lumbar curve reduced:MD 8.00, (95% CI 5.08 to 10.92)). There is very low quality evidence from a prospective controlled cohort study that scoliosis-specific exercises structured within an exercise programme can reduce brace prescription (risk ratio (RR) 0.24, (95% CI 0.06 to1.04) as compared to usual physiotherapy (many different kinds of general exercises according to the preferences of the single therapists within different facilities

  14. Neurocognitive outcomes in the Treatment of Early-Onset Schizophrenia Spectrum Disorders study.

    PubMed

    Frazier, Jean A; Giuliano, Anthony J; Johnson, Jacqueline L; Yakutis, Lauren; Youngstrom, Eric A; Breiger, David; Sikich, Linmarie; Findling, Robert L; McClellan, Jon; Hamer, Robert M; Vitiello, Benedetto; Lieberman, Jeffrey A; Hooper, Stephen R

    2012-05-01

    To assess neurocognitive outcomes following antipsychotic intervention in youth enrolled in the National Institute of Mental Health (NIMH)-funded Treatment of Early-Onset Schizophrenia Spectrum Disorders (TEOSS). Neurocognitive functioning of youth (ages 8 to 19 years) with schizophrenia or schizoaffective disorder was evaluated in a four-site, randomized, double-blind clinical trial comparing molindone, olanzapine, and risperidone. The primary outcomes were overall group change from baseline in neurocognitive composite and six domain scores after 8 weeks and continued treatment up to 52 weeks. Age and sex were included as covariates in all analyses. Of 116 TEOSS participants, 77 (66%) had post-baseline neurocognitive data. No significant differences emerged in the neurocognitive outcomes of the three medication groups. Therefore, the three treatment groups were combined into one group to assess overall neurocognitive outcomes. Significant modest improvements were observed in the composite score and in three of six domain scores in the acute phase, and in four of six domain scores in the combined acute and maintenance phases. Partial correlation analyses revealed very few relationships among Positive and Negative Syndrome Scale (PANSS) baseline or change scores and neurocognition change scores. Antipsychotic intervention in youth with early-onset schizophrenia spectrum disorders (EOSS) led to modest improvement in measures of neurocognitive function. The changes in cognition were largely unrelated to baseline symptoms or symptom change. Small treatment effect sizes, easily accounted for by practice effects, highlight the critical need for the development of more efficacious interventions for the enduring neurocognitive deficits seen in EOSS. Clinical trial registry information-Treatment of Early-Onset Schizophrenia Spectrum Disorders (TEOSS); http://www.clinicaltrials.gov; NCT00053703. Copyright © 2012 American Academy of Child and Adolescent Psychiatry. Published

  15. Premorbid Risk Factors for Major Depressive Disorder: Are They Associated With Early Onset and Recurrent Course?

    PubMed Central

    Wilson, Sylia; Vaidyanathan, Uma; Miller, Michael B.; McGue, Matt; Iacono, William G.

    2014-01-01

    Premorbid risk for major depressive disorder (MDD) and predictors of an earlier onset and recurrent course were examined in two studies in a large, community-based sample of parents and offspring, prospectively assessed from late childhood into adulthood. In Study 1 (N = 2,764 offspring and their parents), parental psychiatric status, offspring personality at age 11, and age-11 offspring internalizing and externalizing symptoms predicted the subsequent development of MDD, as did poor quality parent-child relationships, poor academic functioning, early pubertal development, and childhood maltreatment by age 11. Parental MDD and adult antisocial behavior, offspring negative emotionality and disconstraint, externalizing symptoms, and childhood maltreatment predicted an earlier onset of MDD, after accounting for course; lower positive emotionality, trait anxiety, and childhood maltreatment predicted recurrent MDD, after accounting for age of onset. In Study 2 (N = 7,146), we examined molecular genetic risk for MDD by extending recent reports of associations with glutamatergic system genes. We failed to confirm associations with MDD using either individual SNP-based tests or gene-based analyses. Overall, results speak to the pervasiveness of risk for MDD, as well as specific risk for early-onset MDD; risk for recurrent MDD appears to be largely a function of its often earlier onset. PMID:25422974

  16. Outcomes and complications of S2 alar iliac fixation technique in patients with neuromuscular scoliosis: experience in a third level pediatric hospital.

    PubMed

    Montero, Carlos Segundo; Meneses, David Alberto; Alvarado, Fernando; Godoy, Wilmer; Rosero, Diana Isabel; Ruiz, Jose Manuel

    2017-12-01

    Multiple techniques are utilized for distal fixation in patients with neuromuscular scoliosis. Although there is evidence of benefit with S2 alar iliac (S2AI) fixation, this remains controversial. The objective of this study is to evaluate the radiological outcomes and complications associated with this surgical technique in a pediatric population. An observational retrospective case series study was performed. All pediatric patients between January 2011 and February 2014 diagnosed with neuromuscular scoliosis associated with pelvic obliquity, which required surgery with fixation unto S2AI, were included. Clinical, radiological findings, and adverse events were presented with measures of central tendency. Comparison of deformity correction was carried out using a non-parametric analysis for related samples (Wilcoxon signed-rank test). Significance was set at P<0.05. A total of 31 patients diagnosed with neuromuscular scoliosis that met inclusion criteria were analyzed. The leading cause of neuromuscular scoliosis in 23 (74.2%) patients was spastic cerebral palsy (CP). The correction of pelvic obliquity in the immediate postoperative period was of 76%, which is statistically significant. The extent of correction that patients maintained at the end of the follow-up was analyzed, and it was found that there were no significant differences in this magnitude, compared with the immediate postoperative pelvic obliquity. The mean follow-up time was 9±7 months. Regarding postoperative adverse events, occurred in 64.5% of patients, the most common outcome was pneumonia (14.8%). The overall rate of complications related to instrumentation was low (1.9%), which corresponds to one patient with an intra-articular screw in the left hip that required repositioning. S2AI fixation for the treatment of neuromuscular scoliosis is a safe alternative, in which the onset of adverse events is related to the comorbidities of patients instead of the surgical procedure itself. An

  17. Outcomes and complications of S2 alar iliac fixation technique in patients with neuromuscular scoliosis: experience in a third level pediatric hospital

    PubMed Central

    Montero, Carlos Segundo; Meneses, David Alberto; Alvarado, Fernando; Godoy, Wilmer; Ruiz, Jose Manuel

    2017-01-01

    Background Multiple techniques are utilized for distal fixation in patients with neuromuscular scoliosis. Although there is evidence of benefit with S2 alar iliac (S2AI) fixation, this remains controversial. The objective of this study is to evaluate the radiological outcomes and complications associated with this surgical technique in a pediatric population. Methods An observational retrospective case series study was performed. All pediatric patients between January 2011 and February 2014 diagnosed with neuromuscular scoliosis associated with pelvic obliquity, which required surgery with fixation unto S2AI, were included. Clinical, radiological findings, and adverse events were presented with measures of central tendency. Comparison of deformity correction was carried out using a non-parametric analysis for related samples (Wilcoxon signed-rank test). Significance was set at P<0.05. Results A total of 31 patients diagnosed with neuromuscular scoliosis that met inclusion criteria were analyzed. The leading cause of neuromuscular scoliosis in 23 (74.2%) patients was spastic cerebral palsy (CP). The correction of pelvic obliquity in the immediate postoperative period was of 76%, which is statistically significant. The extent of correction that patients maintained at the end of the follow-up was analyzed, and it was found that there were no significant differences in this magnitude, compared with the immediate postoperative pelvic obliquity. The mean follow-up time was 9±7 months. Regarding postoperative adverse events, occurred in 64.5% of patients, the most common outcome was pneumonia (14.8%). The overall rate of complications related to instrumentation was low (1.9%), which corresponds to one patient with an intra-articular screw in the left hip that required repositioning. Conclusions S2AI fixation for the treatment of neuromuscular scoliosis is a safe alternative, in which the onset of adverse events is related to the comorbidities of patients instead of the

  18. Prediction of thoracic dimensions and spine length on the basis of individual pelvic dimensions: validation of the use of pelvic inlet width obtained by radiographs compared with computed tomography.

    PubMed

    Gold, Meryl; Dombek, Michael; Miller, Patricia E; Emans, John B; Glotzbecker, Michael P

    2014-01-01

    Retrospective review. To validate the pelvic inlet width (PIW) measurement obtained on radiograph as an independent standard used to correlate with thoracic dimensions (TDs) in treated and untreated patients with early-onset scoliosis. In children with early-onset scoliosis, the change in TD and spine length is a key treatment goal. Quantifying this change is confounded by varied growth rates and differing diagnoses. PIW measured on computed tomographic (CT) scan in patients without scoliosis has been shown to correlate with TD in an age-independent manner. The first arm included 49 patients with scoliosis who had both a CT scan and pelvic radiograph. Agreement between PIW measurements on CT scan and radiograph was analyzed. The second arm consisted of 163 patients (age, 0.2-18.7 yr), with minimal spinal deformity (mean Cobb, 9.0°) and radiographs in which PIW was measurable. PIW was compared with previously published CT-based TD measurements; maximal chest width, T1-T12 height, and T1-S1 height. Linear regression analysis was used to develop and validate sex-specific predictive equations for each TD measurement on the basis of PIW. Interobserver reliability was evaluated for all measurements. Bland-Altman analysis indicated agreement with no dependence on observed value, but a consistent 8.5 mm (95% CI: 7.2-9.9 mm) difference in CT scan measurement compared with radiographical PIW measurement. Sex and PIW were significantly correlated to each TD measurement (P < 0.01). Predictive models were validated and may be used to estimate TD measurements on the basis of sex and radiographical PIW. Intraclass correlation coefficients for all measurements were between 0.978 and 0.997. PIW on radiographs and CT scan correlate in patients with deformity and with spine and TD in patients with minimal deformity. It is a fast, reliable method of assessing growth while lowering patient's radiation exposure. It can be reliably used to assess patients with early-onset scoliosis and

  19. [Optimization of radiological scoliosis assessment].

    PubMed

    Enríquez, Goya; Piqueras, Joaquim; Catalá, Ana; Oliva, Glòria; Ruiz, Agustí; Ribas, Montserrat; Duran, Carmina; Rodrigo, Carlos; Rodríguez, Eugenia; Garriga, Victoria; Maristany, Teresa; García-Fontecha, César; Baños, Joan; Muchart, Jordi; Alava, Fernando

    2014-07-01

    Most scoliosis are idiopathic (80%) and occur more frequently in adolescent girls. Plain radiography is the imaging method of choice, both for the initial study and follow-up studies but has the disadvantage of using ionizing radiation. The breasts are exposed to x-ray along these repeated examinations. The authors present a range of recommendations in order to optimize radiographic exam technique for both conventional and digital x-ray settings to prevent unnecessary patients' radiation exposure and to reduce the risk of breast cancer in patients with scoliosis. With analogue systems, leaded breast protectors should always be used, and with any radiographic equipment, analog or digital radiography, the examination should be performed in postero-anterior projection and optimized low-dose techniques. The ALARA (as low as reasonable achievable) rule should always be followed to achieve diagnostic quality images with the lowest feasible dose. Copyright © 2014. Published by Elsevier Espana.

  20. Electronic protocol of respiratory physical therapy in patients with idiopathic adolescent scoliosis.

    PubMed

    Cano, Danila Vieira Baldini; Malafaia, Osvaldo; Alves, Vera Lúcia dos Santos; Avanzi, Osmar; Pinto, José Simão de Paula

    2011-01-01

    To create a clinical database of respiratory function in patients with adolescent idiopathic scoliosis; computerize and store this clinical data through the use of a software; incorporate this electronic protocol to the SINPE© (Integrated Electronic Protocols System) and analyze a pilot project with interpretation of results. From the literature review a computerized data bank of clinical data of postural deviations was set up (master protocol). Upon completion of the master protocol a specific protocol of respiratory function in patients with adolescent idiopathic scoliosis was designed and a pilot project was conducted to collect and analyze data from ten patients. It was possible to create the master protocol of postural deviations and the specific protocol of respiratory function in patients with adolescent idiopathic scoliosis. The data collected in the pilot project was processed by the SINPE ANALYZER©, generating charts and statistics. The establishment of the clinical database of adolescent idiopathic scoliosis was possible. Computerization and storage of clinical data using the software were viable. The electronic protocol of adolescent idiopathic scoliosis could be incorporated into the SINPE© and its use in the pilot project was successful.

  1. [Therapeutic algorithm of idiopathic scoliosis in children].

    PubMed

    Ciortan, Ionica; Goţia, D G

    2008-01-01

    Acquired deformations of spinal cord (scoliosis, kyphosis, lordosis) represent a frequent pathology in child; their treatment is complex, with variable results which depend on various parameters. Mild scoliosis, with an angle less than 30 degrees, is treated with physiotherapy and regular follow-up. If the angle is higher than 30 degrees, the orthopedic corset is required; the angle over 45 degrees impose surgically correction. The indications of every therapeutic method depend on many factors, the main target of the treatment is to prevent the aggravation of the curvature; concerning the surgery, the goal is to obtain a correction as normal as possible of the spinal axis.

  2. Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy.

    PubMed

    Mei, Davide; Marini, Carla; Novara, Francesca; Bernardina, Bernardo D; Granata, Tiziana; Fontana, Elena; Parrini, Elena; Ferrari, Anna R; Murgia, Alessandra; Zuffardi, Orsetta; Guerrini, Renzo

    2010-04-01

    Mutations of the X-linked gene cyclin-dependent kinase-like 5 (CDKL5) cause an X-linked encephalopathy with early onset intractable epilepsy, including infantile spasms and other seizure types, and a Rett syndrome (RTT)-like phenotype. Very limited information is available on the frequency and phenotypic spectrum associated with CDKL5 deletions/duplications. We investigated the role of CDKL5 deletions/duplications in causing early onset intractable epilepsy of unknown etiology in girls. We studied 49 girls with early onset intractable epilepsy, with or without infantile spasms, and developmental impairment, for whom no etiologic factors were obvious after clinical examination, brain magnetic resonance imaging (MRI) and expanded screening for inborn errors of metabolism. We performed CDKL5 gene mutation analysis in all and multiplex ligation dependent probe amplification assay (MLPA) in those who were mutation negative. Custom Array-comparative genomic hybridization (CGH), breakpoint polymerase chain reaction (PCR) analysis, and X-inactivation studies were performed in patients in whom MLPA uncovered a genomic alteration. We found CDKL5 mutations in 8.2% (4 of 49) of patients and genomic deletions in 8.2% (4 of 49). Overall, abnormalities of the CDKL5 gene accounted for 16.3% (8 of 49) of patients. CDKL5 gene deletions are an under-ascertained cause of early onset intractable epilepsy in girls. Genetic testing of CDKL5, including both mutation and deletion/duplication analysis, should be considered in this clinical subgroup.

  3. Male-female differences in Scoliosis Research Society-30 scores in adolescent idiopathic scoliosis.

    PubMed

    Roberts, David W; Savage, Jason W; Schwartz, Daniel G; Carreon, Leah Y; Sucato, Daniel J; Sanders, James O; Richards, Benjamin Stephens; Lenke, Lawrence G; Emans, John B; Parent, Stefan; Sarwark, John F

    2011-01-01

    Longitudinal cohort study. To compare functional outcomes between male and female patients before and after surgery for adolescent idiopathic scoliosis (AIS). There is no clear consensus in the existing literature with respect to sex differences in functional outcomes in the surgical treatment of AIS. A prospective, consecutive, multicenter database of patients who underwent surgical correction for adolescent idiopathic scoliosis was analyzed retrospectively. All patients completed Scoliosis Research Society-30 (SRS-30) questionnaires before and 2 years after surgery. Patients with previous spine surgery were excluded. Data were collected for sex, age, Risser grade, previous bracing history, maximum preoperative Cobb angle, curve correction at 2 years, and SRS-30 domain scores. Paired sample t tests were used to compare preoperative and postoperative scores within each sex. Independent sample t tests were used to compare scores between sexes. A P value of <0.05 was considered statistically significant. Seven hundred forty-four patients (621 females and 123 males) were included. On average, males were 1 year older than females. There were no differences between sexes in Risser grade, bracing history, maximum curve magnitude, or correction after surgery. Both males and females had similar improvement in all SRS-30 domains after surgery. Self-image/appearance had the greatest relative improvement. Males had better self-image/appearance scores preoperatively, better pain scores at 2 years, and better mental health and total scores both preoperatively and at 2 years. Both males and females were similarly satisfied with surgery. Males treated with surgery for AIS report better preoperative self-image, less postoperative pain, and better mental health than females. These differences may be clinically significant. For both males and females, the most beneficial effect of surgery is improved self-image/appearance. Overall, the benefits of surgery for AIS are similar for

  4. Laparoscopic nephrectomy in a patient with severe scoliosis: A case report.

    PubMed

    Tamura, Daichi; Ito, Ayato; Kikuchi, Daichi; Tsuyukubo, Takashi; Kato, Renpei; Kato, Yoichiro; Konari, Susumu; Omori, So; Obara, Wataru

    2018-05-10

    Although the role of laparoscopic nephrectomy (LN) has been established, few studies have reported cases of LN in individuals with scoliosis. Here we report a case of right LN in a patient with severe right convex scoliosis. A 26-year-old man presented with a fever. His medical history comprised severe right convex lumbar scoliosis. CT revealed right hydronephrosis and right kidney stones. Pyelonephritis requiring nephrectomy was diagnosed. Right LN was feasible with elaborate perioperative care. The postoperative course was uneventful with no relapse of urinary tract infection. © 2018 Japan Society for Endoscopic Surgery, Asia Endosurgery Task Force and John Wiley & Sons Australia, Ltd.

  5. Usefulness of Chest Radiographs for Scoliosis Screening: A Comparison with Thoraco-Lumbar Standing Radiographs

    PubMed Central

    Oh, Chang Hyun; Kim, Chan Gyu; Lee, Myoung Seok; Park, Hyeong-Chun; Park, Chong Oon

    2012-01-01

    Purpose The purposes of this study were to evaluate the usefulness and limitations of chest radiographs in scoliosis screening and to compare these results with those of thoraco-lumbar standing radiographs (TLSR). Materials and Methods During Korean conscription, 419 males were retrospectively examined using both chest radiographs and TLSR to confirm the scoliosis and Cobb angle at the Regional Military Manpower. We compared the types of spinal curves and Cobb angles as measured from different radiographs. Results In the pattern of spinal curves, the overall matching rate of chest radiographs using TLSR was about 58.2% (244 of 419 cases). Cobb angle differences between chest radiographs and TLSR with meaningful difference was observed in 156 cases (37.2%); a relatively high proportion (9.5%) of Cobb angle differences more than 10 degrees was also observed. The matching rate of both spinal curve types and Cobb angle accuracy between chest radiographs and TLSR was 27.9% (117 among 419 cases). Chest radiographs for scoliosis screening were observed with 93.94% of sensitivity and 61.67% of specificity in thoracic curves; however, less than 40% of sensitivity (38.27%, 20.00%, and 25.80%) and more than 95% of specificity (97.34%, 99.69%, and 98.45%) were observed in thoraco-lumbar, lumbar, and double major curves, respectively. Conclusion The accuracy of chest radiographs for scoliosis screening was low. The incidence of thoracic curve scoliosis was overestimated and lumbar curve scoliosis was easily missed by chest radiography. Scoliosis screening using chest radiography has limited values, nevertheless, it is useful method for detecting thoracic curve scoliosis. PMID:23074120

  6. Thyroid peroxidase antibodies during early gestation and the subsequent risk of first-onset postpartum depression: A prospective cohort study.

    PubMed

    Wesseloo, Richard; Kamperman, Astrid M; Bergink, Veerle; Pop, Victor J M

    2018-01-01

    During the postpartum period, women are at risk for the new onset of both auto-immune thyroid disorders and depression. The presence of thyroid peroxidase antibodies (TPO-ab) during early gestation is predictive for postpartum auto-immune thyroid dysfunction. The aim of this study was to investigate the association between TPO-ab status during early gestation and first-onset postpartum depression. Prospective cohort study (n = 1075) with follow-up during pregnancy up to one year postpartum. Thyroid function and TPO-ab status were measured during early gestation. Depressive symptomatology was assessed during each trimester and at four time points postpartum with the Edinburgh Depression Scale (EDS). Women with antenatal depression were not eligible for inclusion. Self-reported postpartum depression was defined with an EDS cut-off of ≥ 13. The cumulative incidence of self-reported first-onset depression in the first postpartum year was 6.3%. A positive TPO-ab status was associated with an increased risk for self-reported first-onset depression at four months postpartum (adjusted OR 3.8; 95% CI 1.3-11.6), but not at other postpartum time points. Prevalence rates of self-reported postpartum depression declined after four months postpartum in the TPO-ab positive group, but remained constant in the TPO-ab negative group. Depression was defined with a self-rating questionnaire (EDS). Women with an increased TPO-ab titer during early gestation are at increased risk for self-reported first-onset depression. The longitudinal pattern of self-reported postpartum depression in the TPO-ab positive group was similar to the typical course of postpartum TPO-ab titers changes. This suggests overlap in the etiology of first-onset postpartum depression and auto-immune thyroid dysfunction. Thyroid function should be evaluated in women with first-onset postpartum depression. Copyright © 2017 Elsevier B.V. All rights reserved.

  7. Is Privacy Important in Scoliosis Screening?

    ERIC Educational Resources Information Center

    Quick, Miriam M.; Highriter, Marion E.

    1981-01-01

    In a study done to determine the importance of privacy during scoliosis screening, individual privacy was provided for some children. Results indicated a definite lessening of anxiety for those students screened privately. (JN)

  8. The influence of thermoplastic thoraco lumbo sacral orthoses on standing balance in subjects with idiopathic scoliosis.

    PubMed

    Khanal, Minoo; Arazpour, Mokhtar; Bahramizadeh, Mahmood; Samadian, Mohammad; Hutchins, Stephen W; Kashani, Reza Vahab; Mardani, Mohammad A; Tari, Hossein Vahid; Aboutorabi, Atefeh; Curran, Sarah; Sadeghi, Heidar

    2016-08-01

    Idiopathic scoliosis patients have postural equilibrium problems. The objective of this study was to assess postural control in subjects with idiopathic scoliosis following a 4-month intervention in an unbraced position. Quasi-experimental. Eight healthy girls and eight girls with idiopathic scoliosis took part. A Kistler force platform was used with a frequency of 100 Hz for recording data. The center of pressure was recorded in different positions out of brace for scoliosis and healthy subjects. Test conditions were single limb and double limb stance, with eyes open and closed, and foam and rigid surfaces. The data reflected a weak balance of idiopathic scoliosis subjects compared to healthy subjects. After 1 and 4 months of wearing the brace, center of pressure and center of gravity sway increased in the majority of the tests, although there were no significant differences in any of the test conditions (p > 0.05). While the center of pressure sway in medio-lateral direction decreased after 4 months of wearing a brace, in other variables center of pressure and center of gravity sway increased. Idiopathic scoliosis patients have weak balance in comparison to healthy subjects. In addition, following a period of 4 months of wearing a brace, balance parameters in the scoliosis subjects did not improve. The results show that we need more follow-up of orthoses wearing in idiopathic scoliosis subjects and suggest more studies at least 1-year follow-up to identify the efficiency of brace wear on balance. Scoliosis can alter postural stability and balance performance during quiet standing. Spinal deformity can alter a subject's ability to compensate for postural changes and cause gait deviations. This study investigated balance differences between the healthy and idiopathic scoliosis patients and the results of thoraco lumbo sacral orthosis brace wear. It might provide some new insight into the conservative treatment of idiopathic scoliosis patients for

  9. Joint hypermobility in children with idiopathic scoliosis: SOSORT award 2011 winner

    PubMed Central

    2011-01-01

    Background Generalized joint hypermobility (JHM) refers to increased joint mobility with simultaneous absence of any other systemic disease. JHM involves proprioception impairment, increased frequency of pain within joints and tendency to injure soft tissues while performing physical activities. Children with idiopathic scoliosis (IS) often undergo intensive physiotherapy requiring good physical capacities. Further, some physiotherapy methods apply techniques that increase joint mobility and thus may be contraindicated. The aim of this paper was to assess JHM prevalence in children with idiopathic scoliosis and to analyze the relationship between JHM prevalence and the clinical and radiological parameters of scoliosis. The methods of assessment of generalized joint hypermobility were also described. Materials and methods This case-control study included 70 subjects with IS, aged 9-18 years (mean 13.2 ± 2.2), Cobb angle range 10°-53° (mean 24.3 ± 11.7), 34 presenting single curve thoracic scoliosis and 36 double curve thoracic and lumbar scoliosis. The control group included 58 children and adolescents aged 9-18 years (mean 12.6 ± 2.1) selected at random. The presence of JHM was determined using Beighton scale complemented with the questionnaire by Hakim and Grahame. The relationship between JHM and the following variables was evaluated: curve severity, axial rotation of the apical vertebra, number of curvatures (single versus double), number of vertebrae within the curvature (long versus short curves), treatment type (physiotherapy versus bracing) and age. Statistical analysis was performed with Statistica 8.1 (StatSoft, USA). The Kolmogorov-Smirnov test, U Mann-Whitney test, Chi2 test, Pearson and Spermann correlation rank were conducted. The value p = 0.05 was adopted as the level of significance. Results JHM was diagnosed in more than half of the subjects with idiopathic scoliosis (51.4%), whilst in the control group it was diagnosed in only 19% of cases (p

  10. Locomotor skills and balance strategies in adolescents idiopathic scoliosis.

    PubMed

    Mallau, Sophie; Bollini, Gérard; Jouve, Jean-Luc; Assaiante, Christine

    2007-01-01

    Locomotor balance control assessment was performed to study the effect of idiopathic scoliosis on head-trunk coordination in 17 patients with adolescent idiopathic scoliosis (AIS) and 16 control subjects. The aim of this study was to explore the functional effects of structural spinal deformations like idiopathic scoliosis on the balance strategies used during locomotion. Up to now, the repercussion of the idiopathic scoliosis on head-trunk coordination and balance strategies during locomotion is relatively unknown. Seventeen patients with AIS (mean age 14 years 3 months, 10 degrees < Cobb angle > 30 degrees) and 16 control subjects (mean age 14 years 1 month) were tested during various locomotor tasks: walking on the ground, walking on a line, and walking on a beam. Balance control was examined in terms of rotation about the vertical axis (yaw) and on a frontal plane (roll). Kinematics of foot, pelvis, trunk, shoulder, and head rotations were measured with an automatic optical TV image processor in order to calculate angular dispersions and segmental stabilizations. Decreasing the walking speed is the main adaptive strategy used in response to balance problems in control subjects as well as patients with AIS. However, patients with AIS performed walking tasks more slowly than normal subjects (around 15%). Moreover, the pelvic stabilization is preserved, despite the structural changes affecting the spine. Lastly, the biomechanical defect resulting from idiopathic scoliosis mainly affects the yaw head stabilization during locomotion. Patients with AIS show substantial similarities with control subjects in adaptive strategies relative to locomotor velocity as well as balance control based on segmental stabilization. In contrast, the loss of the yaw head stabilization strategies, mainly based on the use of vestibular information, probably reflects the presence of vestibular deficits in the patients with AIS.

  11. Discrepancy between self-awareness and actual diagnosis and treatment of the conditions among adolescent with scoliosis in middle-school age.

    PubMed

    Lee, Wan-Hee; Kang, Hyojeong; Kim, Seong Yeol

    2017-04-01

    [Purpose] The purpose of this research was to determine the awareness of the actual conditions of the diagnosis and treatment of scoliosis by focusing on middle-school students in order to provide a basis for active education and treatment of scoliosis. [Subjects and Methods] The survey was conducted among 4,782 students. The students performed Adam's forward bend test, and some of the students who showed predictive features of scoliosis were further examined for the spine structure with rasterstereography. [Results] The proportion of students with awareness about scoliosis appeared to be 71.47%. Among the students, 50.84% knew the definition of scoliosis and 4.37% were diagnosed as having scoliosis, of whom 46.37% underwent treatment. It was a significant difference between to get a diagnosis and the predictive scoliosis or the scoliosis. [Conclusion] The results showed that the students in the second grade of middle school had high awareness levels, but about 50% of them did not know the definition of scoliosis. More than 50% of them did not receive treatment after diagnosed as having scoliosis. Therefore, active education and school screening for scoliosis should be provided to adolescent students.

  12. Discrepancy between self-awareness and actual diagnosis and treatment of the conditions among adolescent with scoliosis in middle-school age

    PubMed Central

    Lee, Wan-hee; Kang, Hyojeong; Kim, Seong Yeol

    2017-01-01

    [Purpose] The purpose of this research was to determine the awareness of the actual conditions of the diagnosis and treatment of scoliosis by focusing on middle-school students in order to provide a basis for active education and treatment of scoliosis. [Subjects and Methods] The survey was conducted among 4,782 students. The students performed Adam’s forward bend test, and some of the students who showed predictive features of scoliosis were further examined for the spine structure with rasterstereography. [Results] The proportion of students with awareness about scoliosis appeared to be 71.47%. Among the students, 50.84% knew the definition of scoliosis and 4.37% were diagnosed as having scoliosis, of whom 46.37% underwent treatment. It was a significant difference between to get a diagnosis and the predictive scoliosis or the scoliosis. [Conclusion] The results showed that the students in the second grade of middle school had high awareness levels, but about 50% of them did not know the definition of scoliosis. More than 50% of them did not receive treatment after diagnosed as having scoliosis. Therefore, active education and school screening for scoliosis should be provided to adolescent students. PMID:28533586

  13. [Anti-NMDA-receptor encephalitis: a new axis-III disorder in the differential diagnosis of childhood disintegrative disorder, early onset schizophrenia and late onset autism].

    PubMed

    Creten, C; van der Zwaan, S; Blankespoor, R J; Maatkamp, A; Klinkenberg, S; van Kranen-Mastenbroek, V H J M; Nicolai, J; Dhossche, D M; van Os, J; Schieveld, J N M

    2012-01-01

    Childhood disintegrative disorder (CDD), early onset schizophrenia (EOS), and late onset autism (LOA) often follow a similar course: initially, development is normal, then there is a sudden neuropsychiatric deterioration of social interaction and communication skills, which is combined with a decline in intelligence and reduction in daily activities. A 9-year-old boy was admitted to the paediatric ward with acute onset of secondary epileptic seizures. It was not long until the boy's symptoms resembled that of patients with cdd, eos and loa. Intensive tests led to the diagnosis of anti-NMDA-receptor encephalitis. Anti-NMDA-receptor encephalitis should be regarded as a possible organic cause underlying the syndromal presentation of CDD, EOS and LOA.

  14. Characteristics of familial aggregation in early-onset Alzheimer`s disease: Evidence of subgroups

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Campion, D.; Martinez, M.; Babron, M.C.

    1995-06-19

    Characteristics of familial aggregation of Alzheimer`s Disease were studied in 92 families ascertained through a clinically diagnosed proband with an onset below age 60 years. In each family data were systematically collected on the sibships of the proband, of his father, and of his mother. A total of 926 relatives were included and 81% of the living relatives (i.e., 251 individuals) were directly examined. The estimated cumulative risk among first degree relatives was equal to 35% by age 89 years (95% confidence interval 22 to 47%). This result does not support the hypothesis that an autosomal dominant gene, fully penetrantmore » by age 90 years, is segregating within all these pedigrees. Despite the fact that all probands were selected for an onset before age 60 years it was shown that two types of families could be delineated with respect to age at onset among affected relatives: all secondary cases with an onset below age 60 years were contributed by a particular group of families (type 1 families), whereas all secondary cases with an onset after age 60 years were contributed by another group of families (type 2 families). Although genetic interpretation of these findings is not straightforward, they support the hypothesis of etiologic heterogeneity in the determinism of early-onset Alzheimer`s disease. 58 refs., 5 figs., 2 tabs.« less

  15. X-Ray Exam: Scoliosis (For Parents)

    MedlinePlus

    ... abnormality is suspected, the doctor may order a magnetic resonance imaging (MRI) study to look at the ... organs will also be protected with a lead shield. A scoliosis X-ray is usually performed in ...

  16. Current concepts and controversies on adolescent idiopathic scoliosis: Part I.

    PubMed

    Sud, Alok; Tsirikos, Athanasios I

    2013-03-01

    Adolescent idiopathic scoliosis is the most common spinal deformity encountered by General Orthopaedic Surgeons. Etiology remains unclear and current research focuses on genetic factors that may influence scoliosis development and risk of progression. Delayed diagnosis can result in severe deformities which affect the coronal and sagittal planes, as well as the rib cage, waistline symmetry, and shoulder balance. Patient's dissatisfaction in terms of physical appearance and mechanical back pain, as well as the risk for curve deterioration are usually the reasons for treatment. Conservative management involves mainly bracing with the aim to stop or slow down scoliosis progression during growth and if possible prevent the need for surgical treatment. This is mainly indicated in young compliant patients with a large amount of remaining growth and progressive curvatures. Scoliosis correction is indicated for severe or progressive curves which produce significant cosmetic deformity, muscular pain, and patient discontent. Posterior spinal arthrodesis with Harrington instrumentation and bone grafting was the first attempt to correct the coronal deformity and replace in situ fusion. This was associated with high pseudarthrosis rates, need for postoperative immobilization, and flattening of sagittal spinal contour. Segmental correction techniques were introduced along with the Luque rods, Harri-Luque, and Wisconsin systems. Correction in both coronal and sagittal planes was not satisfactory and high rates of nonunion persisted until Cotrel and Dubousset introduced the concept of global spinal derotation. Development of pedicle screws provided a powerful tool to correct three-dimensional vertebral deformity and opened a new era in the treatment of scoliosis.

  17. Validity and reliability of an adapted Thai version of Scoliosis Research Society-22 questionnaire for adolescent idiopathic scoliosis.

    PubMed

    Sathira-Angkura, Vera; Pithankuakul, Kongkit; Sakulpipatana, Susana; Piyaskulkaew, Chaiwat; Kunakornsawat, Sombat

    2012-04-20

    Cross-sectional observational study to investigate psychometric properties of an adapted Thai version of the refined Scoliosis Research Society-22 (SRS-22) questionnaire. To evaluate the reliability and validity of the adapted Thai version of the refined SRS-22 questionnaire. The SRS-22 questionnaire is a valid instrument for assessing the health-related quality of life for patients with adolescent idiopathic scoliosis. Recently, the questionnaire has been translated and validated in many languages for non-English-speaking countries. Translation/retranslation of the English version of the SRS-22 was conducted, and the cross-cultural adaptation process was performed. The Thai version SRS-22 and previously validated Thai version Short-Form survey version 2.0 (SF-36V2) questionnaires were administered to 77 patients with adolescent idiopathic scoliosis who had surgical treatment. Fifty-eight patients (52 adolescent girls) had filled out the first set of questionnaires. Thirty patients of the first-time responders completed the second set of questionnaires. The mean age at the time of operation was 14.6 years and the mean age at the time of the final follow-up was 18.7 years. The mean preoperative scoliosis curve magnitude was 55.4° (range, 30°-95°) and postoperative curve magnitude was 20.1° (range, 0°-60°). Internal consistency was determined with Cronbach α coefficient. Intraclass correlation coefficient was used for test-retest reliability. Concurrent validity was evaluated by comparing SRS-22 domains with relevant domains in the SF-36V2 questionnaire, using the Pearson correlation coefficient. The mean overall Cronbach α coefficient of the adapted Thai version SRS-22 was 0.76. The 2 of corresponding domains (mental health = 0.80 and self-image = 0.83) had satisfactory internal consistency and the remaining domains (pain = 0.78; function/activity = 0.74; and satisfaction = 0.76) were good. The intraclass correlation coefficient for 5 domains was ranged from

  18. The effect of intrapartum antibiotics on early-onset neonatal sepsis in Dhaka, Bangladesh: a propensity score matched analysis

    PubMed Central

    2014-01-01

    Background We estimate the effect of antibiotics given in the intrapartum period on early-onset neonatal sepsis in Dhaka, Bangladesh using propensity score techniques. Methods We followed 600 mother-newborn pairs as part of a cohort study at a maternity center in Dhaka. Some pregnant women received one dose of intravenous antibiotics during labor based on clinician discretion. Newborns were followed over the first seven days of life for early-onset neonatal sepsis defined by a modified version of the World Health Organization Young Infants Integrated Management of Childhood Illnesses criteria. Using propensity scores we matched women who received antibiotics with similar women who did not. A final logistic regression model predicting sepsis was run in the matched sample controlling for additional potential confounders. Results Of the 600 mother-newborn pairs, 48 mothers (8.0%) received antibiotics during the intrapartum period. Seventy-seven newborns (12.8%) were classified with early-onset neonatal sepsis. Antibiotics appeared to be protective (odds ratio 0.381, 95% confidence interval 0.115–1.258), however this was not statistically significant. The results were similar after adjusting for prematurity, wealth status, and maternal colonization status (odds ratio 0.361, 95% confidence interval 0.106–1.225). Conclusions Antibiotics administered during the intrapartum period may reduce the risk of early-onset neonatal sepsis in high neonatal mortality settings like Dhaka. PMID:24742087

  19. Score distribution of the scoliosis research society health-related quality of life in different subgroups of adolescent subjects unaffected by scoliosis in China.

    PubMed

    Wu, Weifei; Du, Yuanli; Liang, Jie; Chen, Ying; Tan, Xiaoyi; Xiang, Xuanping; Wang, Wanhong; Ru, Neng

    2014-02-01

    A comparative study. The aims of this study were to: (1) evaluate Scoliosis Research Society (SRS)-22 questionnaire performance in normal adolescents without scoliosis to establish a normative baseline useful for evaluating the discriminate validity of the SRS-22 in primary adolescent scoliosis; and (2) investigate impact of age and sex on SRS-22 in an adolescent population unaffected by scoliosis. The SRS-22 questionnaire is widely used to measure health-related quality of life of patients with spinal disease including scoliosis and lumbar spondylolisthesis. However, normal data, which are very important, when comparing patients and nonpatients, are few, little, and there are few studies about factors that may affect SRS questionnaire performance. The adolescent population was from 14 schools located in 7 provinces. A total of 2008 adolescents (961 females, 1026 males, 21 unknown; mean age, 14.3 yr; range, 11-20) completed the simplified Chinese version of SRS-22 questionnaire and demographic questions. Surveys were stratified into 8 age-sex groups for analysis: male/female; 12 to 13.4, 13.5 to 14.9, 15 to 15.9, and more than 16 years of age. Post hoc testing and the Tukey least significant difference were used to compare differences between any 2 of the 4 age groups. Self-image scores in males were higher than those in females (P < 0.01). Pain domain scores were significantly higher in males than those in females in the 13.5- to 14.9-year-old subgroup, whereas other subgroups showed no obvious differences. The function domain scores in males who were aged 15 to 15.9 years and those older than 16 years were significantly higher than those in females (P < 0.001). There were no statistically significant differences in mental health domain scores among age-sex subgroups, with the exception of the 13.5- to 14.9-year-old group. This is the first study to characterize the sex and age influence on the SRS-22 scores in normal population. Age and sex have an important

  20. A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families.

    PubMed

    Athan, E S; Williamson, J; Ciappa, A; Santana, V; Romas, S N; Lee, J H; Rondon, H; Lantigua, R A; Medrano, M; Torres, M; Arawaka, S; Rogaeva, E; Song, Y Q; Sato, C; Kawarai, T; Fafel, K C; Boss, M A; Seltzer, W K; Stern, Y; St George-Hyslop, P; Tycko, B; Mayeux, R

    2001-11-14

    Genetic determinants of Alzheimer disease (AD) have not been comprehensively examined in Caribbean Hispanics, a population in the United States in whom the frequency of AD is higher compared with non-Hispanic whites. To identify variant alleles in genes related to familial early-onset AD among Caribbean Hispanics. Family-based case series conducted in 1998-2001 at an AD research center in New York, NY, and clinics in the Dominican Republic. Among 206 Caribbean Hispanic families with 2 or more living members with AD who were identified, 19 (9.2%) had at least 1 individual with onset of AD before the age of 55 years. The entire coding region of the presenilin 1 gene and exons 16 and 17 of the amyloid precursor protein gene were sequenced in probands from the 19 families and their living relatives. A G-to-C nucleotide change resulting in a glycine-alanine amino acid substitution at codon 206 (Gly206Ala) in exon 7 of presenilin 1 was observed in 23 individuals from 8 (42%) of the 19 families. A Caribbean Hispanic individual with the Gly206Ala mutation and early-onset familial disease was also found by sequencing the corresponding genes of 319 unrelated individuals in New York City. The Gly206Ala mutation was not found in public genetic databases but was reported in 5 individuals from 4 Hispanic families with AD referred for genetic testing. None of the members of these families were related to one another, yet all carriers of the Gly206Ala mutation tested shared a variant allele at 2 nearby microsatellite polymorphisms, indicating a common ancestor. No mutations were found in the amyloid precursor protein gene. The Gly206Ala mutation was found in 8 of 19 unrelated Caribbean Hispanic families with early-onset familial AD. This genetic change may be a prevalent cause of early-onset familial AD in the Caribbean Hispanic population.

  1. Neurocognitive findings in Prader-Willi syndrome and early-onset morbid obesity.

    PubMed

    Miller, Jennifer; Kranzler, John; Liu, Yijun; Schmalfuss, Ilona; Theriaque, Douglas W; Shuster, Jonathan J; Hatfield, Ann; Mueller, O Thomas; Goldstone, Anthony P; Sahoo, Trilochan; Beaudet, Arthur L; Driscoll, Daniel J

    2006-08-01

    To examine whether early-onset morbid obesity is associated with cognitive impairment, neuropathologic changes, and behavioral problems. This case-control study compared head MRI scans and cognitive, achievement, and behavioral evaluations of subjects with Prader-Willi syndrome (PWS), early-onset morbid obesity (EMO), and normal-weight sibling control subjects from both groups. Head MRI was done on 17 PWS, 18 EMO, and 21 siblings, and cognitive, achievement, and behavioral evaluations were done on 19 PWS, 17 EMO, and 24 siblings. The mean General Intellectual Ability score of the EMO group was 77.4 +/- 17.8; PWS, 63.3 +/- 14.2; and control subjects, 106.4 +/- 13.0. Achievement scores for the three groups were EMO, 78.7 +/- 18.8; PWS, 71.2 +/- 17.0; and control subjects, 104.8 +/- 17.0. Significant negative behaviors and poor adaptive skills were found in the EMO group. White matter lesions were noted on brain MRI in 6 subjects with PWS and 5 with EMO. None of the normal-weight control subjects had these findings. Individuals with EMO have significantly lower cognitive function and more behavioral problems than control subjects with no history of childhood obesity. Both EMO and PWS subjects have white matter lesions on brain MRI that have not previously been described.

  2. Idiopathic Scoliosis from Psychopathological and Mind-Body Medicine Perspectives.

    PubMed

    Talić, Goran; Ostojić, Ljerka; Bursać, Snježana Novaković; Nožica-Radulović, Tatjana; Stevanović-Papić, Đurđica

    2016-12-01

    Idiopathic scoliosis, defined as a three-dimensional spine and trunk deformity, which appears in otherwise healthy subjects, exhibits complex relations with various forms of personal well-being and psychopathology. Most research studies have documented a higher proportion of psychological disturbances (e.g., self-criticism, negative body image, low self-esteem) and mental disorders (e.g., anxiety and depressive disorders, personality disorders) among idiopathc scoliosis patients compared to healthy controls. In addition, there are some reports, although more systematic research is warranted, on the role of mental health and personality traits in relation to the adherence to conservative treatment. Given the increasing role of surgical treatment in the management of scoliosis, as well as several reports on negative psychological outcomes of such interventions, there is a growing need for ongoing screening and mental health care in this population. It seems this also holds true for non-operative treatments, particularly bracing therapy. One should keep in mind that these scoliosis-psychopathology relations are deduced from a limited number of empirical studies, usually conducted on small sample sizes, suggesting the need for further large-scale investigations, preferrably those with longitudinal research designs. Understanding the complex interplay between personality/psychopathology and spinal deformities within the framework of personalized mind-body medicine, should help clinicians tailor more individualized and specific treatments and predict therapeutic outcomes in this clinical population.

  3. BRCA1 and BRCA2 mutation analysis of early-onset and familial breast cancer cases in Mexico.

    PubMed

    Ruiz-Flores, Pablo; Sinilnikova, Olga M; Badzioch, Michael; Calderon-Garcidueñas, A L; Chopin, Sandrine; Fabrice, Odefrey; González-Guerrero, J F; Szabo, Csilla; Lenoir, Gilbert; Goldgar, David E; Barrera-Saldaña, Hugo A

    2002-12-01

    The entire coding regions of BRCA1 and BRCA2 were screened for mutations by heteroduplex analysis in 51 Mexican breast cancer patients. One BRCA1 and one BRCA2 truncating mutation each was identified in the group of 32 (6%) early-onset breast cancer patients (< or =35 years). Besides these two likely deleterious mutations, eight rare variants of unknown significance, mostly in the BRCA2 gene, were detected in six of 32 (19%) early-onset breast cancer cases and in three of 17 (18%) site-specific breast cancer families, one containing a male breast cancer case. No mutations or rare sequence variants have been identified in two additional families including each an early-onset breast cancer case and an ovarian cancer patient. The two truncating mutations (BRCA1 3857delT; BRCA2 2663-2664insA) and six of the rare variants have never been reported before and may be of country-specific origin. The majority of the alterations appeared to be distinct, with only one of them being observed in more than one family. Copyright 2002 Wiley-Liss, Inc.

  4. Prevalence of scoliosis among primary and middle school students in Mainland China: a systematic review and meta-analysis.

    PubMed

    Zhang, Hongqi; Guo, Chaofeng; Tang, Mingxing; Liu, Shaohua; Li, Jinsong; Guo, Qiang; Chen, Lizhang; Zhu, Yong; Zhao, Shushan

    2015-01-01

    Systematic review and meta-analysis of published prevalence of scoliosis among primary and middle school students in Mainland China. To evaluate the prevalence of scoliosis among primary and middle school students in Mainland China. There is substantial uncertainty regarding the prevalence of scoliosis in Mainland China among the primary and middle school students. We conducted a systematic review aiming to describe the prevalence of scoliosis in Mainland China. We systematically reviewed the published epidemiological studies or reports on the prevalence of scoliosis in Chinese cities. Scopus, PubMed, WanFang Database, CNKI, China National Science and Technology Digital Library, and WeiPu Database were searched for studies reporting a prevalence estimate for scoliosis in primary and middle school students. Meta-analyses were performed to estimate the pooled prevalence of scoliosis by STATA 12.0. Subgroup analyses were conducted according to the sex, age, and geographical area. A total of 38 articles, including 697,043 patients, were eligible for inclusion in this review. Meta-analyses revealed the prevalence of scoliosis to be 1.02% (95% [confidence interval] CI, 0.85-1.18) among the primary and middle school students in Mainland China. The female to male ratio was 1.54 (95% CI, 1.35-1.74; P < 0.001). According to the subgroup analysis by different ages, the prevalence of scoliosis increased from 0.73% (95% CI, 0.55-0.90) to 1.14% (95% CI, 0.86-1.42). Meta-analyses showed that the prevalence of scoliosis in Mainland China was 1.02% among the primary and middle school students. The prevalence of scoliosis in females was higher than in males and the ratio was 1.54. As they grew older, the prevalence of scoliosis increased in the students.

  5. 100 Most Influential Publications in Scoliosis Surgery.

    PubMed

    Zhou, James Jun; Koltz, Michael T; Agarwal, Nitin; Tempel, Zachary J; Kanter, Adam S; Okonkwo, David O; Hamilton, D Kojo

    2017-03-01

    Bibliometric analysis. To apply the established technique of citation analysis to identify the 100 most influential articles in scoliosis surgery research published between 1900 and 2015. Previous studies have applied the technique of citation analysis to other areas of study. This is the first article to apply this technique to the field of scoliosis surgery. A two-step search of the Thomson Reuters Web of Science was conducted to identify all articles relevant to the field of scoliosis surgery. The top 100 articles with the most citations were identified based on analysis of titles and abstracts. Further statistical analysis was conducted to determine whether measures of author reputation and overall publication influence affected the rate at which publications were recognized and incorporated by other researchers in the field. Total citations for the final 100 publications included in the list ranged from 82 to 509. The period for publication ranged from 1954 to 2010. Most studies were published in the journal Spine (n = 63). The most frequently published topics of study were surgical techniques (n = 35) and outcomes (n = 35). Measures of author reputation (number of total studies in the top 100, number of first-author studies in the top 100) were found to have no effect on the rate at which studies were adopted by other researchers (number of years until first citation, and number of years until maximum citations). The number of citations/year a publication received was found to be negatively correlated with the rate at which it was adopted by other researchers, indicating that more influential manuscripts attained more rapid recognition by the scientific community at large. In assembling this publication, we have strived to identify and recognize the 100 most influential articles in scoliosis surgery research from 1900 to 2015. N/A.

  6. Early- and late-onset Alzheimer disease: Are they the same entity?

    PubMed

    Tellechea, P; Pujol, N; Esteve-Belloch, P; Echeveste, B; García-Eulate, M R; Arbizu, J; Riverol, M

    2018-05-01

    Early-onset Alzheimer disease (EOAD), which presents in patients younger than 65 years, has frequently been described as having different features from those of late-onset Alzheimer disease (LOAD). This review analyses the most recent studies comparing the clinical presentation and neuropsychological, neuropathological, genetic, and neuroimaging findings of both types in order to determine whether EOAD and LOAD are different entities or distinct forms of the same entity. We observed consistent differences between clinical findings in EOAD and in LOAD. Fundamentally, the onset of EOAD is more likely to be marked by atypical symptoms, and cognitive assessments point to poorer executive and visuospatial functioning and praxis with less marked memory impairment. Alzheimer-type features will be more dense and widespread in neuropathology studies, with structural and functional neuroimaging showing greater and more diffuse atrophy extending to neocortical areas (especially the precuneus). In conclusion, available evidence suggests that EOAD and LOAD are 2 different forms of a single entity. LOAD is likely to be influenced by ageing-related processes. Copyright © 2015 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.

  7. Dopamine receptor gene d4 polymorphisms and early sexual onset: gender and environmental moderation in a sample of african-american youth.

    PubMed

    Kogan, Steven M; Lei, Man-Kit; Beach, Steven R H; Brody, Gene H; Windle, Michael; Lee, Sunbok; MacKillop, James; Chen, Yi-Fu

    2014-08-01

    Early sexual onset and its consequences disproportionately affect African-American youth, particularly male youth. The dopamine receptor D4 gene (DRD4) has been linked to sexual activity and other forms of appetitive behavior, particularly for male youth and in combination with environmental factors (gene × environment [G × E] effects). The differential susceptibility perspective suggests that DRD4 may exert this effect by amplifying the effects of both positive and negative environments. We hypothesized that DRD4 status would amplify the influence of both positive and negative neighborhood environments on early sexual onset among male, but not female, African-Americans. Hypotheses were tested with self-report, biospecimen, and census data from five prospective studies of male and female African-American youth in rural Georgia communities, N = 1,677. Early sexual onset was defined as intercourse before age 14. No significant G × E findings emerged for female youth. Male youth with a DRD4 long allele were more likely than those with two DRD4 short alleles to report early sexual onset in negative community environments and not to report early onset in positive community environments. Dopaminergic regulation of adolescent sexual behaviors may operate differently by gender. DRD4 operated as an environmental amplification rather than a vulnerability factor. Copyright © 2014 Society for Adolescent Health and Medicine. Published by Elsevier Inc. All rights reserved.

  8. Early-Onset Severe Encephalopathy with Epilepsy: The BRAT1 Gene Should Be Added to the List of Causes.

    PubMed

    van de Pol, Laura A; Wolf, Nicole I; van Weissenbruch, Mirjam M; Stam, Cornelie J; Weiss, Janneke M; Waisfisz, Quinten; Kevelam, Sietske H; Bugiani, Mariana; van de Kamp, Jiddeke M; van der Knaap, Marjo S

    2015-12-01

    A variety of pathologies can underlie early-onset severe encephalopathy with epilepsy. To aid the diagnostic process in such patients we present an overview of causes, including the rapidly expanding list of genes involved. When no explanation is found, whole-exome sequencing (WES) can be used in an attempt to identify gene defects in patients suspected to suffer from a genetic form. We describe three siblings, born to consanguineous parents, with a lethal severe epileptic encephalopathy with early-infantile onset, including their magnetic resonance imaging, electroencephalography and, in one case, neuropathological findings. Using WES a homozygous frameshift mutation in the BRAT1 gene, c.638dup p.(Val214Glyfs*189), was identified. We present our cases in the context of all published cases with mutations in the BRAT1 gene and conclude that BRAT1 should be added to the growing list of genes related to early-onset severe encephalopathy with epilepsy. Georg Thieme Verlag KG Stuttgart · New York.

  9. Assessment of sensorimotor control in adults with surgical correction for idiopathic scoliosis.

    PubMed

    Pialasse, Jean-Philippe; Mercier, Pierre; Descarreaux, Martin; Simoneau, Martin

    2016-10-01

    This study aims at verifying if impaired sensorimotor control observed in adolescents and young adults with scoliosis is also present in adult patients who underwent surgery to reduce their spine deformation. The study included ten healthy adults and ten adults with idiopathic scoliosis who underwent surgery to reduce their spine deformation. Galvanic vestibular stimulation was delivered to assess sensorimotor control. Vertical forces under each foot and horizontal displacement of the upper body were measured before, during and after stimulation. Balance control was assessed by calculating the root mean square values of kinematic and kinetic variables. The amplitude of the vestibular-evoked postural response was 3.4 % (0.8-6.0 %) and 4.5 % (-0.4 to 9.5 %) of the maximal range of motion. Therefore, spine surgery did not limit the postural response. Patients with idiopathic scoliosis exhibited larger body sway than the healthy controls during and immediately after vestibular stimulation. The maximal normalized lateral displacement of the body was 0.85 and 0.40 cm/m and maximal normalized vertical force was 0.78 vs. 0.39 N/kg, for idiopathic scoliosis and healthy groups, respectively. This result suggests that dysfunctional sensorimotor integration is still present even in adult idiopathic scoliosis that underwent spine deformation correction.

  10. Scoliosis in Patients with Severe Cerebral Palsy: Three Different Courses in Adolescents.

    PubMed

    Oda, Yoshiaki; Takigawa, Tomoyuki; Sugimoto, Yoshihisa; Tanaka, Masato; Akazawa, Hirofumi; Ozaki, Toshifumi

    2017-04-01

    Patients with cerebral palsy (CP) frequently present with scoliosis; however, the pattern of curve progression is difficult to predict. We aimed to clarify the natural course of the progression of scoliosis and to identify scoliosis predictors. This was a retrospective, single-center, observational study. Total of 92 CP patients from Asahikawasou Ryouiku Iryou Center in Okayama, Japan were retrospectively analyzed. Cobb angle, presence of hip dislocation and pelvic obliquity, and Gross Motor Function Classification System (GMFCS) were investigated. Severe CP was defined as GMFCS level IV or V. The mean observation period was 10.7 years. Thirtyfour severe CP patients presented with scoliosis and were divided into 3 groups based on their clinical courses: severe, moderate and mild. The mean Cobb angles at the final follow-up were 129°, 53°, and 13° in the severe, moderate, and mild groups, respectively. The average progressions from 18 to 25 years were 2.7°/year, 0.7°/year, and 0.1°/year in the severe, moderate, and mild curve groups, respectively. We observed the natural course of scoliosis and identified 3 courses based on the Cobb angle at 15 and 18 years of age. This method of classification may help clinicians predict the patients' disease progression.

  11. Global development and adaptive behaviour in children with early-onset epilepsy: a population-based case-control study.

    PubMed

    Reilly, Colin; Atkinson, Patricia; Memon, Ayesha; Jones, Chloe; Dabydeen, Lyvia; Das, Krishna B; Gillberg, Christopher; Neville, Brian G R; Mahoney, J Matthew; Scott, Rod C

    2018-06-03

    There are limited population-based data on global development and adaptive behaviour in children with early-onset epilepsy. The aims of this study were: (1) to identify the prevalence of deficits in global development and adaptive behaviour experienced by children with early-onset epilepsy; (2) to identify factors associated with such deficits; and (3) to compare the relationship between measures of neurodevelopment in the group with epilepsy to a group without epilepsy who had other neurological or neurodevelopmental difficulties. The Sussex Early Epilepsy and Neurobehaviour study is a prospective, community-based study involving children (1-7y) with epilepsy. We undertook comprehensive psychological assessment with participants, including measures of global development and adaptive behaviour. We compared the children with epilepsy with a sex, age, and developmentally-matched group of children without epilepsy who had neurodevelopmental or neurological difficulties using correlation matrices. Forty-eight children (91% of the eligible population) with epilepsy underwent assessment. Seventy-one per cent of children displayed delayed global development (<2SD) and 56% showed significant deficits (<2SD) in adaptive behaviour. Our analysis revealed that non-white ethnicity and use of polytherapy were independently associated with decreased scores on measures of global development and adaptive behaviour. The correlations between measures of developmental functioning were higher in children with epilepsy than in those without. Children with early-onset epilepsy frequently have difficulties with global development and adaptive behaviour. The higher correlations between neurodevelopmental measures in children with epilepsy suggest that the profile in children with epilepsy is different. This may have significant implications for both neuropathology and interventions. Children with early-onset epilepsy are at significant risk of intellectual disability. Developmental

  12. Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families.

    PubMed

    Dominguez-Valentin, Mev; Nakken, Sigve; Tubeuf, Hélène; Vodak, Daniel; Ekstrøm, Per Olaf; Nissen, Anke M; Morak, Monika; Holinski-Feder, Elke; Martins, Alexandra; Møller, Pål; Hovig, Eivind

    2018-01-01

    To study the potential contribution of genes other than BRCA1/2, PTEN, and TP53 to the biological and clinical characteristics of multiple early-onset cancers in Norwegian families, including early-onset breast cancer, Cowden-like and Li-Fraumeni-like syndromes (BC, CSL and LFL, respectively). The Hereditary Cancer Biobank from the Norwegian Radium Hospital was used to identify early-onset BC, CSL or LFL for whom no pathogenic variants in BRCA1/2, PTEN, or TP53 had been found in routine diagnostic DNA sequencing. Forty-four cancer susceptibility genes were selected and analyzed by our in-house designed TruSeq amplicon-based assay for targeted sequencing. Protein- and RNA splicing-dedicated in silico analyses were performed for all variants of unknown significance (VUS). Variants predicted as the more likely to affect splicing were experimentally analyzed by minigene assay. We identified a CSL individual carrying a variant in CHEK2 (c.319+2T>A, IVS2), here considered as likely pathogenic. Out of the five VUS (BRCA2, CDH1, CHEK2, MAP3K1, NOTCH3) tested in the minigene splicing assay, only NOTCH3 c.14090C>T (p.Ser497Leu) showed a significant effect on RNA splicing, notably by inducing partial skipping of exon 9. Among 13 early-onset BC, CSL and LFL patients, gene panel sequencing identified a potentially pathogenic variant in CHEK2 that affects a canonical RNA splicing signal. Our study provides new information on genetic loci that may affect the risk of developing cancer in these patients and their families, demonstrating that genes presently not routinely tested in molecular diagnostic settings may be important for capturing cancer predisposition in these families.

  13. Influence of pelvic asymmetry and idiopathic scoliosis in adolescents on postural balance during sitting.

    PubMed

    Jung, Ji-Yong; Cha, Eun-Jong; Kim, Kyung-Ah; Won, Yonggwan; Bok, Soo-Kyung; Kim, Bong-Ok; Kim, Jung-Ja

    2015-01-01

    The effects of pelvic asymmetry and idiopathic scoliosis on postural balance during sitting were studied by measuring inclination angles, pressure distribution, and electromyography. Participants were classified into a control group, pelvic asymmetry group, scoliosis group, and scoliosis with pelvic asymmetry and then performed anterior, posterior, left, and right pelvic tilting while sitting on the unstable board for 5 seconds to assess their postural balance. Inclination and obliquity angles between the groups were measured by an accelerometer located on the unstable board. Pressure distribution (maximum force and peak pressure) was analyzed using a capacitive seat sensor. In addition, surface electrodes were attached to the abdominal and erector spinae muscles of each participant. Inclination and obliquity angles increased more asymmetrically in participants with both pelvic asymmetry and scoliosis than with pelvic asymmetry or scoliosis alone. Maximum forces and peak pressures of each group showed an asymmetrical pressure distribution caused by the difference in height between the left and right pelvis and curve type of the patients' spines when performing anterior, posterior, left, and right pelvic tilting while sitting. Muscle contraction patterns of external oblique, thoracic erector spinae, lumbar erector spinae, and lumbar multifidus muscles may be influenced by spine curve type and region of idiopathic scoliosis. Asymmetrical muscle activities were observed on the convex side of scoliotic patients and these muscle activity patterns were changed by the pelvic asymmetry. From these results, it was confirmed that pelvic asymmetry and idiopathic scoliosis cause postural asymmetry, unequal weight distribution, and muscular imbalance during sitting.

  14. The effectiveness of core stabilization exercise in adolescent idiopathic scoliosis: A randomized controlled trial.

    PubMed

    Gür, Gözde; Ayhan, Cigdem; Yakut, Yavuz

    2017-06-01

    Core stabilization training is used to improve postural balance in musculoskeletal problems. The purpose of this study was to investigate the effectiveness of stabilization training in adolescent idiopathic scoliosis. A randomized controlled trial, pretest-posttest design. In total, 25 subjects with adolescent idiopathic scoliosis were randomly divided into two groups: stabilization group ( n = 12) and control group ( n = 13). The stabilization group received core stabilization in addition to traditional rehabilitation, and the control group received traditional rehabilitation for 10 weeks. Assessment included Cobb's angle on radiograph, apical vertebral rotation in Adam's test, trunk asymmetry (Posterior Trunk Symmetry Index), cosmetic trunk deformity (Trunk Appearance Perception Scale), and quality of life (Scoliosis Research Society-22 questionnaire). Inter-group comparisons showed significantly greater improvements in the mean change in lumbar apical vertebral rotation degree and the pain domain of Scoliosis Research Society-22 in the stabilization group than those in the control group ( p < 0.05). No significant differences were observed for other measurements between the groups; however, trends toward greater improvement were observed in the stabilization group. Core stabilization training in addition to traditional exercises was more effective than traditional exercises alone in the correction of vertebral rotation and reduction of pain in adolescent idiopathic scoliosis. Clinical relevance Stabilization exercises are more effective in reducing rotation deformity and pain than traditional exercises in the conservative rehabilitation of adolescent idiopathic scoliosis. These improvements suggest that stabilization training should be added to rehabilitation programs in adolescent idiopathic scoliosis.

  15. 2014 CODEPEH recommendations: Early detection of late onset deafness, audiological diagnosis, hearing aid fitting and early intervention.

    PubMed

    Núñez-Batalla, Faustino; Jáudenes-Casaubón, Carmen; Sequí-Canet, Jose Miguel; Vivanco-Allende, Ana; Zubicaray-Ugarteche, Jose

    2016-01-01

    The latest scientific literature considers early diagnosis of deafness as the key element to define the educational and inclusive prognosis of the deaf child, because it allows taking advantage of the critical period of development (0-4 years). Highly significant differences exist between deaf people who have been stimulated early and those who have received late or improper intervention. Early identification of late-onset disorders requires special attention and knowledge on the part of every childcare professional. Programs and additional actions beyond neonatal screening should be designed and planed to ensure that every child with a significant hearing loss is detected early. For this purpose, the CODEPEH would like to highlight the need for continuous monitoring of children's auditory health. Consequently, CODEPEH has drafted the recommendations included in the present document. Copyright © 2015 Elsevier España, S.L.U. and Sociedad Española de Otorrinolaringología y Patología Cérvico-Facial. All rights reserved.

  16. Impact of substance use on the onset and course of early psychosis.

    PubMed

    Verdoux, Hélène; Tournier, Marie; Cougnard, Audrey

    2005-11-01

    The strong comorbidity between psychosis and substance use is already identifiable in early psychosis, raising the question of the direction of the association between substance use and psychosis onset. It has long been considered that this association was explained by the self-medication hypothesis. This hypothesis has been recently challenged by several prospective studies carried out in population-based samples, showing a dose-response relationship between cannabis exposure and risk of psychosis. This association was independent from potential confounding factors such as exposure to other drugs and pre-existence of psychotic symptoms. As a large percentage of subjects from the general population is now exposed to this drug, even a small increase in the risk of adverse effects may have significant deleterious consequences for the health of the population. Hence, reducing exposure to cannabis may contribute to prevention of some incident cases of psychosis. Regarding prognosis, persistent substance misuse after the onset of psychosis has a deleterious impact on clinical outcome. Therapeutic programs for subjects with dual diagnosis should be implemented early in the course of psychosis to maximise their impact on the course of illness.

  17. Psychologic management of brace therapy for patients with idiopathic scoliosis.

    PubMed

    Matsunaga, Shunji; Hayashi, Kyoji; Naruo, Tetsuro; Nozoe, Shin-ichi; Komiya, Setsuro

    2005-03-01

    A trial of brace therapy modified by a measured personality pattern of patients with idiopathic scoliosis was performed. To evaluate the effectiveness of performing personality tests for patients with idiopathic scoliosis who undergo brace therapy. Brace therapy has often been used for the treatment of scoliosis. However, emotional distress can result from this therapy. Few attempts have been made to reduce such stress. A test using the Maudsley Personality Inventory was performed on 145 adolescent females with idiopathic scoliosis, treated with brace therapy alone, before the start of brace therapy and 1 month after the start of brace therapy. On the basis of test results, the patients were rated as normal type and four abnormal types. Brace therapy was continued considering the personality pattern of patients. For all patients, changes in psychologic test results, compliance with braces wearing instructions, and correction of scoliosis were analyzed. Of the 134 patients rated as normal before the start of therapy, 108 patients were rated as abnormal pattern when tested 1 month after the start of therapy. After performing autogenic training for patients with E-N+ and E-N- personalities, and giving advice to school teachers to decrease the emotional stress for patients with E+N+ personality, 47 patients were finally rated as abnormal pattern. In total, 12 (8%) of the 145 patients dropped out. In dropouts, the average pretreatment deformity of 29 degrees (range: 21 degrees -37 degrees ) had increased to an average of 37 degrees (range, 31 degrees -48 degrees ). Psychologic tests may be useful and provide a means of modifying brace therapy tailored to the psychologic conditions of individual patients.

  18. Intra-operative measurement of applied forces during anterior scoliosis correction.

    PubMed

    Fairhurst, H; Little, J P; Adam, C J

    2016-12-01

    Spinal instrumentation and fusion for the treatment of scoliosis is primarily a mechanical intervention to correct the deformity and halt further progression. While implant-related complications remain a concern, little is known about the magnitudes of the forces applied to the spine during surgery, which may affect post-surgical outcomes. In this study, the compressive forces applied to each spinal segment during anterior instrumentation were measured in a series of patients with Adolescent Idiopathic Scoliosis. A force transducer was designed and retrofit to a routinely used surgical tool, and compressive forces applied to each segment during surgery were measured for 15 scoliosis patients. Cobb angle correction achieved by each force was measured on intra-operative fluoroscope images. Relative changes in orientation of the screw within the vertebra were also measured to detect intra-operative screw plough. Intra-operative forces were measured for a total of 95 spinal segments. The mean applied compressive force was 540N (SD 230N, range 88N-1019N). There was a clear trend for higher forces to be applied at segments toward the apex of the scoliosis. Fluoroscopic evidence of screw plough was detected at 10 segments (10.5%). The magnitude of forces applied during anterior scoliosis correction vary over a broad range. These forces do reach magnitudes capable of causing intra-operative vertebral body screw plough. Surgeons should be aware there is a risk for tissue overload during correction, however the clinical implications of intra-operative screw plough remain unclear. The dataset presented here is valuable for providing realistic input parameters for in silico surgical simulations. Copyright © 2016 Elsevier Ltd. All rights reserved.

  19. Spinal Manipulative Therapy for Adolescent Idiopathic Scoliosis: A Systematic Review.

    PubMed

    Théroux, Jean; Stomski, Norman; Losco, Christine Dominique; Khadra, Christelle; Labelle, Hubert; Le May, Sylvie

    The purpose of this study was to perform a systematic review of clinical trials of spinal manipulative therapy for adolescent idiopathic scoliosis. Search strategies were developed for PubMed, CINHAL, and CENTRAL databases. Studies were included through June 2016 if they were prospective trials that evaluated spinal manipulative therapy (eg, chiropractic, osteopathic, physical therapy) for adolescent idiopathic scoliosis. Data were extracted and assessed by 2 independent reviewers. Cochrane risk of bias tools were used to assess the quality of the included studies. Data were reported qualitatively because heterogeneity prevented statistical pooling. Four studies satisfied the inclusion criteria and were critically appraised. The findings of the included studies indicated that spinal manipulative therapy might be effective for preventing curve progression or reducing Cobb angle. However, the lack of controls and small sample sizes precluded robust estimation of the interventions' effect sizes. There is currently insufficient evidence to establish whether spinal manipulative therapy may be beneficial for adolescent idiopathic scoliosis. The results of the included studies suggest that spinal manipulative therapy may be a promising treatment, but these studies were all at substantial risk of bias. Further high-quality studies are warranted to conclusively determine if spinal manipulative therapy may be effective in the management of adolescent idiopathic scoliosis. Copyright © 2017. Published by Elsevier Inc.

  20. Reconceptualizing Early and Late Onset: A Life Course Analysis of Older Heroin Users

    ERIC Educational Resources Information Center

    Boeri, Miriam Williams; Sterk, Claire E.; Elifson, Kirk W.

    2008-01-01

    Purpose: Researchers' knowledge regarding older users of illicit drugs is limited despite the increasing numbers of users. In this article, we apply a life course perspective to gain a further understanding of older adult drug use, specifically contrasting early- and late-onset heroin users. Design and Methods: We collected qualitative data from…

  1. Evaluation of postoperative residual spinal deformity and patient outcome in idiopathic scoliosis patients in Japan using the scoliosis research society outcomes instrument.

    PubMed

    Watanabe, Kei; Hasegawa, Kazuhiro; Hirano, Toru; Uchiyama, Seiji; Endo, Naoto

    2007-03-01

    This study clarifies the correlation between the components of the Scoliosis Research Society Outcomes Instrument (SRS-24) and the radiographic parameters after surgery in Japanese idiopathic scoliosis patients. To investigate the correlation between the magnitude of back deformity after scoliosis surgery and the components of the SRS-24. Patient outcomes for Japanese scoliosis patients using the SRS-24 have not been fully investigated. Idiopathic scoliosis patients (n = 81) who were treated with surgery and followed up for more than 2 years were evaluated. Radiographic examination included Cobb angle, rotation angle of apical vertebrae, and translation of the C7 vertebra from the center sacral line on the coronal plane. In addition, the score of one new question regarding postoperative scar was investigated and compared with that of the individual SRS-24 domains. A comparison of the SRS-24 and radiographic results revealed a significant inverse correlation between total pain and the postoperative correction of the rotation angle in the thoracic curve (rs = 0.27; P < 0.05). General self-image was inversely correlated with the Cobb angle (rs = -0.23; P < 0.05) and the rotation angle (rs = -0.30; P < 0.01) in the thoracic curve. Self-image after surgery was positively correlated with the correction degree of the thoracic Cobb angle (rs = 0.27; P < 0.05); 60% of patients had some concerns regarding postoperative scar, and the concerned patients demonstrated significantly lower scores in the pain and general self-image domains (P < 0.05) than the unconcerned patients did. Patients with a greater Cobb angle or rotation angle in the thoracic curve had a negative self-image. Self-image improved after surgery by greater correction of the thoracic Cobb angle. Thoracic scoliotic deformity with prominence should be substantially reduced by the surgical treatment to improve satisfaction rates and self-image regarding back appearance. Additionally, physicians should pay more

  2. Radiation exposure during scoliosis screening radiography

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Nottage, W.M.; Waugh, T.R.; McMaster, W.C.

    Screening programs to detect scoliosis in the adolescent population are active in most communities. Two percent of children screened will be referred for treatment or observation. Increasing concern has been voiced regarding the amount of the potential effects of the radiation administered in such screening programs. Radiation dosage was directly measured on 19 children participating in an established school scoliosis screening program, using lithium fluoride thermoluminescence dosimeters. The mean gonadal doses are measured to be 19 mrem in males and estimated at a maximum 95 mrem in females. The mean entrance skin dose was 174 mrem. A lack of uniformitymore » in the radiographic techniques employed by individual technician was identified. The measured doses were within established acceptable limits and are comparable or below the average dose of 100 mrem received annually by the general public from the environment.« less

  3. Severe progressive scoliosis due to huge subcutaneous cavernous hemangioma: A case report

    PubMed Central

    2011-01-01

    Cavernous hemangioma consists mainly of congenital vascular malformations present before birth and gradually increasing in size with skeletal growth. A small number of patients with cavernous hemangioma develop scoliosis, and surgical treatment for the scoliosis in such cases has not been reported to date. Here we report a 12-year-old male patient with severe progressive scoliosis due to a huge subcutaneous cavernous hemangioma, who underwent posterior correction and fusion surgery. Upon referral to our department, radiographs revealed a scoliosis of 85° at T6-L1 and a kyphosis of 58° at T4-T10. CT and MR images revealed a huge hemangioma extending from the subcutaneous region to the paraspinal muscles and the retroperitoneal space and invading the spinal canal. Posterior correction and fusion surgery using pedicle screws between T2 and L3 were performed. Massive hemorrhage from the hemangioma occurred during the surgery, with intraoperative blood loss reaching 2800 ml. The scoliosis was corrected to 59°, and the kyphosis to 45° after surgery. Seven hours after surgery, the patient suffered from hypovolemic shock and disseminated intravascular coagulation due to postoperative hemorrhage from the hemangioma. The patient developed sensory and conduction aphasia caused by cerebral hypoxia during the shock on the day of the surgery. At present, two years after the surgery, although the patient has completely recovered from the aphasia. This case illustrates that, in correction surgery for scoliosis due to huge subcutaneous cavernous hemangioma, intraoperative and postoperative intensive care for hemodynamics should be performed, since massive hemorrhage can occur during the postoperative period as well as the intraoperative period. PMID:21414205

  4. In utero arsenic exposure induces early onset of atherosclerosis in ApoE−/− mice

    PubMed Central

    Srivastava, Sanjay; D’Souza, Stanley E.; Sen, Utpal; States, J. Christopher

    2007-01-01

    Consumption of arsenic contaminated drinking water has been linked to higher rates of coronary disease, stroke, and peripheral arterial disease. Recent evidence suggests that early life exposures may play a significant role in the onset of chronic adult diseases. To investigate the potential for in utero exposure to accelerate the onset of cardiovascular disease we exposed pregnant ApoE-knockout (ApoE−/−) mice to arsenic in their drinking water and examined the aortic trees of their male offspring for evidence of early disease 10 and 16 weeks after birth. Mice were maintained on normal chow after weaning. ApoE−/− mice are a commonly used model for atherogenesis and spontaneously develop atherosclerotic disease. Mice exposed to arsenic in utero showed a >2-fold increase in lesion formation in the aortic roots as well as the aortic arch compared to control mice at both 10 and 16 weeks of age. The mice exposed to arsenic also had a 20 – 40% decrease in total triglycerides, but no change in total cholesterol, phospholipids and total abundance of VLDL or HDL particles. Subfractionation of VLDL particles showed a decrease in large VLDL particles. In addition, the arsenic exposed mice showed a vasorelaxation defect in response to acetylcholine suggesting disturbance of endothelial cell signalling. These results indicate that in utero arsenic exposure induces an early onset of atherosclerosis in ApoE−/− mice without a hyperlipidemic diet and support the hypothesis that in utero arsenic exposure may be atherogenic in humans. PMID:17317095

  5. Radiation exposure to patients receiving routine scoliosis radiography measured at depth in an anthropomorphic phantom

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Dutkowsky, J.P.; Shearer, D.; Schepps, B.

    1990-07-01

    Concern about the amount of radiation received during scoliosis evaluation and treatment led us to measure radiation exposure in an anthropomorphic phantom to determine the increased risk of breast cancer in young women with scoliosis. Assuming that 22 radiographic examinations were performed over the course of scoliosis treatment, the increased relative risk of breast cancer was determined to be 0.22% in these patients.

  6. Short communication: Associations between blood glucose concentration, onset of hyperketonemia, and milk production in early lactation dairy cows.

    PubMed

    Ruoff, J; Borchardt, S; Heuwieser, W

    2017-07-01

    The objectives of this study were to describe the associations between hypoglycemia and the onset of hyperketonemia (HYK) within the first 6 wk of lactation, to evaluate the effects of body condition score at calving on glucose concentration, and to study the effects of hypoglycemia on milk production. A total of 621 dairy cows from 6 commercial dairy farms in Germany were enrolled between 1 and 4 d in milk (DIM). Cows were tested twice weekly using an electronic handheld meter for glucose and β-hydroxybutyrate (BHB), respectively, for a period of 42 d. Hypoglycemia was defined as glucose concentration ≤2.2 mmol/L. Hyperketonemia was defined as a BHB concentration ≥1.2 mmol/L. The onset of HYK was described as early onset (first HYK event within the first 2 wk postpartum) and late onset (first HYK event in wk 3 to 6 postpartum). The effect of ketosis status on blood glucose within 42 DIM was evaluated using a generalized linear mixed model. No effect was observed of HYK on glucose concentration in primiparous cows. Multiparous cows with early-onset HYK had a lower glucose concentration (-0.21 mmol/L) compared with nonketotic cows. Overall, primiparous cows had a lower prevalence and incidence of hypoglycemia than multiparous cows. Hypoglycemia in multiparous cows was associated with higher first test-day milk production and 100 DIM milk production. In conclusion, hypoglycemia mainly occurred in multiparous cows with early-onset HYK, whereas primiparous cows were at a lower risk for hypoglycemia. Copyright © 2017 American Dairy Science Association. Published by Elsevier Inc. All rights reserved.

  7. Use of the scoliosis research society outcomes instrument to evaluate patient outcome in untreated idiopathic scoliosis patients in Japan: part I: comparison with nonscoliosis group: preliminary/limited review in a Japanese population.

    PubMed

    Watanabe, Kei; Hasegawa, Kazuhiro; Hirano, Toru; Uchiyama, Seiji; Endo, Naoto

    2005-05-15

    This preliminary study evaluates untreated Japanese patients with idiopathic scoliosis using the Scoliosis Research Society Outcomes Instrument (SRS-24). To determine the baseline patient outcome score using the SRS-24 for untreated Japanese scoliosis patients compared with a nonscoliosis group. The SRS instrument with 24 questions was developed to help evaluate patient-perceived outcomes of idiopathic scoliosis treatment. Evaluation of untreated Japanese idiopathic scoliosis patients using the SRS instrument has not been reported. Japanese idiopathic scoliosis patients (n = 141) (mean age, 13.6 years; range, 10-17 years) with a Cobb angle of more than 20 degrees who were not treated with a brace or surgery, were evaluated in comparison with a nonscoliosis group (healthy junior high school students; n = 72) using the SRS-24. The scoliosis group was categorized as mild deformity group with a major curve Cobb angle of less than 30 degrees, moderate deformity group with 30 degrees to 49 degrees, and severe deformity group with more than 50 degrees. The patients were evaluated using section 1 (15 questions) of the SRS-24, which was divided into four domains: total pain, general self-image, general function, and activity. Reliability, as determined by internal consistency, was validated using Cronbach's alpha for these domain scales. The severe deformity group had the lowest scores compared with the other deformity groups and the nonscoliosis group in pain (P < 0.0001) and self-image (P < 0.05) domains. The scores for questions 3 (P < 0.0001) and 5 (P < 0.0001), evaluation of self-image of back appearance, were significantly lower in the scoliosis group than those in the nonscoliosis group. This tendency was more significant in the patients with greater curve magnitude. Scores for questions 14 and 15, evaluation of general self-image, in the scoliosis group were, however, higher than those in the nonscoliosis group. Internal consistency using Cronbach's alpha was 0

  8. Predicting onset of cannabis use in early adolescence: the interrelation between high-intensity pleasure and disruptive behavior. The TRAILS Study.

    PubMed

    Creemers, Hanneke E; van Lier, Pol A C; Vollebergh, Wilma A M; Ormel, Johan; Verhulst, Frank C; Huizink, Anja C

    2009-11-01

    Increased knowledge about the mechanisms by which some individuals are at risk for early onset of cannabis use might contribute to the improvement of prevention efforts. We focus on the roles of early-adolescent high-intensity pleasure, disruptive behavior, and their interplay in the prediction of onset of cannabis use 2 years later. Data from 81% (n = 1,804) of the participants (51.9% girls) of the Tracking Adolescents' Individual Lives Survey (TRAILS), a prospective general population study in the north of The Netherlands, were analyzed. Measures included parent-reported high-intensity pleasure, and parent- and self-reported general disruptive behavior, attention-deficit hyperactivity, oppositional problems, and conduct problems (Child Behavior Checklist/6-18 and Youth Self-Report) at ages 10-12. Onset of cannabis use was assessed at age 12-14 by means of self-reports. Analyses were carried out in Mplus. Early adolescent high-intensity pleasure and disruptive behavior, mainly conduct problems and to some extent attention-deficit hyperactivity, predicted the onset of cannabis use in adolescence. Although we found some mediation by general disruptive behavior, conduct problems, and attention-deficit hyperactivity, the contribution of high-intensity pleasure in predicting the onset of cannabis use was found to be mainly independent from disruptive behavior. The unique contribution of both high-intensity pleasure and disruptive behavior points in the direction of different pathways toward onset of cannabis use.

  9. Early-Onset Acute Recurrent and Chronic Pancreatitis Is Associated with PRSS1 or CTRC Gene Mutations.

    PubMed

    Giefer, Matthew J; Lowe, Mark E; Werlin, Steven L; Zimmerman, Bridget; Wilschanski, Michael; Troendle, David; Schwarzenberg, Sarah Jane; Pohl, John F; Palermo, Joseph; Ooi, Chee Y; Morinville, Veronique D; Lin, Tom K; Husain, Sohail Z; Himes, Ryan; Heyman, Melvin B; Gonska, Tanja; Gariepy, Cheryl E; Freedman, Steven D; Fishman, Douglas S; Bellin, Melena D; Barth, Bradley; Abu-El-Haija, Maisam; Uc, Aliye

    2017-07-01

    To assess whether the age of onset was associated with unique features or disease course in pediatric acute recurrent pancreatitis (ARP) or chronic pancreatitis (CP). Demographic and clinical information on children with ARP or CP was collected at INSPPIRE (INternational Study Group of Pediatric Pancreatitis: In Search for a CuRE) centers. The Cochran-Armitage trend test and Jonckheere-Terpstra test were used to examine for differences between pediatric age groups (<6, 6-11, and ≥12 years). Between September 2012 and March 2016, 342 children with ARP or CP were enrolled; 129 (38%) were <6 years of age at the time of first diagnosis of acute pancreatitis, 111 (32%) were 6-11 years of age, and 102 (30%) were ≥12 years of age. Early-onset disease was associated with mutations in cationic trypsinogen (PRSS1) (P < .01), chymotrypsin C (CTRC) (P = .01), family history of acute pancreatitis (P = .02), family history of CP (P < .01), biliary cysts (P = .04), or chronic renal failure (P = .02). Later-onset disease was more commonly present with hypertriglyceridemia (P = .04), ulcerative colitis (P = .02), autoimmune diseases (P < .0001), or medication use (P < .01). Children with later-onset disease also were more likely to visit the emergency department (P < .05) or have diabetes (P < .01). Early-onset pancreatitis is associated strongly with PRSS1 or CTRC mutations and family history of pancreatitis. Children with later-onset disease are more likely to have nongenetic risk factors. Future studies are needed to investigate whether the disease course, response to therapy, or clinical outcomes differ relative to the timing of disease onset. Copyright © 2017 Elsevier Inc. All rights reserved.

  10. PREVALENCE OF SCOLIOSIS IN PUBLIC ELEMENTARY SCHOOL STUDENTS

    PubMed Central

    Ciaccia, Maria Célia Cunha; de Castro, Julia Silvestre; Rahal, Mariana Abduch; Penatti, Barbarah Silveira; Selegatto, Iara Borin; Giampietro, João Lucas Morette; Rullo, Vera Esteves Vagnozzi

    2017-01-01

    ABSTRACT Objective: To evaluate the prevalence of scoliosis and the risk factors in elementary school students. Methods: A cross-sectional study was carried out in 954 students in 2015. The instrument involved was a questionnaire on postural habits, socioeconomic conditions, and demographic factors. The anthropometric measurements, including height and weight, a visual inspection of the deformity of the vertebral column, the leveling of shoulders, and the Adam’s test were obtained. The sample was calculated in the expected frequency of 12.3%, acceptable error rate of 2.0% and confidence level of 95.0%. To compare the proportions, the chi-square test or Fisher’s exact test was applied. The association between scoliosis and risk factors was evaluated by logistic regression, being significant p <0.05. Results: The prevalence of scoliosis was 24.3%, higher in obese patients and students who adopted a sitting position for a long period of time. Obese students showed a 1.8 times higher chance of testing positive Adam’s Forward Bend Test when compared to normal-weight/lean and 2.1 times higher chance compared to overweight students. The sitting position for watching television increases the chance of testing positive Adam’s test in 38.0%, when compared to the lying position. Obesity increases the risk of testing positive Adam’s test in 74.0 and 98.0%, when compared, respectively, to the underweight/normal weight and overweight. Conclusions: There was a high prevalence of scoliosis in students from public elementary schools in Santos. The most influential factors for this deviation of the spine were obesity and the position adopted by students to watch television. PMID:28977336

  11. Case report of an atypical early onset X-linked retinoschisis in monozygotic twins.

    PubMed

    Murro, Vittoria; Caputo, Roberto; Bacci, Giacomo Maria; Sodi, Andrea; Mucciolo, Dario Pasquale; Bargiacchi, Sara; Giglio, Sabrina Rita; Virgili, Gianni; Rizzo, Stanislao

    2017-02-24

    X-linked Retinoschisis (XLRS) is one of the most common macular degenerations in young males, with a worldwide prevalence ranging from 1:5000 to 1:20000. Clinical diagnosis of XLRS can be challenging due to the highly variable phenotypic presentation and limited correlation has been identified between mutation type and disease severity or progression. We report the atypical early onset of XLRS in 3-month-old monozygotic twins. Fundus examination was characterized by severe bullous retinal schisis with pre-retinal and intraretinal haemorrhages. Molecular genetic analysis of the RS1 was performed and the c.288G > A (p. Trp96Ter) mutation was detected in both patients. Early onset XLRS is associated with a more progressive form of the disease, characterized by large bullous peripheral schisis involving the posterior pole, vascular abnormalities and haemorrhages. The availability of specific technology permitted detailed imaging of the clinical picture of unusual cases of XLRS. The possible relevance of modifying genes should be taken into consideration for the future development of XLRS gene therapy.

  12. Rehabilitation of scoliosis patients with pain after surgery.

    PubMed

    Weiss, Hans-Rudolf

    2002-01-01

    In our centre, the postoperative scoliosis rehabilitation consists in stabilizing postural and respiratory exercises lasting several hours a day (5 1/2 to 7 hours). Additionally to pain treatment, we apply pain physiotherapy, physical therapy, acupuncture and besides manual medicine, also a psychological intervention and pain treatment by medication. 46 patients suffered from heavier pain 10 or more years after scoliosis surgery. The patients reported their pain at the beginning and at the end of 3-6 week in-patient rehabilitation programme. We applied a visual analogous scale (VAS), a numerical scale (NS), a standardized adjective scale (VRS), and a pain frequency scale. All the patients with an average age of 36 years old (SD=16) and an average curve angle of 35 degrees thoracic (SD=36) and 26 degrees lumbar (SD=22) showed a decrease of the values on the pain intensity scale. Pain reduction was highly significant, as well as pain frequency. Chronic pain as a late result following scoliosis surgery can be reduced by an intensive in-patient rehabilitation, at least in the short term. There are further necessary studies in order to follow-up the long-term effect of postoperative rehabilitation.

  13. Escherichia coli early-onset sepsis: trends over two decades.

    PubMed

    Mendoza-Palomar, Natalia; Balasch-Carulla, Milena; González-Di Lauro, Sabina; Céspedes, Maria Concepció; Andreu, Antònia; Frick, Marie Antoinette; Linde, Maria Ángeles; Soler-Palacin, Pere

    2017-09-01

    Escherichia coli early-onset sepsis (EOS) is an important cause of mortality and morbidity in neonates, especially in preterm and very low birth weight (VLBW) newborns. The aim of our study was to evaluate potential changes in the clinical and microbiological characteristics of E. coli EOS in our setting. Epidemiological, clinical, and microbiological data from all neonates with proven E. coli EOS from January 1994 to December 2014 were retrospectively collected in a single tertiary care hospital in Barcelona (Spain). Seventy-eight E. coli EOS cases were analyzed. A slight increase in the incidence of E. coli EOS was observed during the study period. VLBW newborns remained the group with higher incidence (10.4 cases per 1000 live births) and mortality (35.3%). Systematic use of PCR increased E. coli EOS diagnosis, mainly in the term newborn group. There was an increase in resistant E. coli strains causing EOS, with especially high resistance to ampicillin and gentamicin (92.8 and 28.6%, respectively). Nonetheless, resistant strains were not associated with poorer clinical outcomes. There is an urgent need to reconsider the empirical therapy used in neonatal EOS, particularly in VLBW newborns. What is Known: • E. coli early-onset sepsis (EOS) and E. coli resistant strains have been described as overall stable but increasing in VLBW neonates (< 1.500 g) in previous studies. What is New: • Our study shows an increasing incidence of E. coli EOS in all age groups, overruling group B Streptoccocus for the last 10 years. E. coli resistant strains also increased equally in all age groups, with high resistance rates to our first line antibiotics (ampicillin and gentamicin). • Empiric antibiotic therapy of EOS, mainly in VLBW newborns, should be adapted to this new scenario.

  14. Conservative management of neuromuscular scoliosis: personal experience and review of literature.

    PubMed

    Kotwicki, Tomasz; Jozwiak, Marek

    2008-01-01

    The principles of conservative management of neuromuscular scoliosis in childhood and adolescence are presented. Analysis of personal experience and literature review. The topic is discussed separately for patients with flaccid or spastic paresis. These demonstrate that conservative management might be proposed for patients with neuromuscular scoliosis in many clinical situations. In spastic disorders, it maintains the symmetry around the hip joints. Bracing is technically difficult and often is not tolerated well by cerebral palsy children. In patients with flaccid paresis, the fitting and the use of brace is easier than in spastic patients. The flexibility of the spinal curvature is more important. Functional benefits of conservative management of neuromuscular scoliosis comprise stable sitting, easier use of upper limbs, discharge of the abdomen from the collapsing trunk, increased diaphragm excursion, and, not always, prevention of curve progression. Specific natural history and multiple medical problems associated with the disease make the treatment of children with neuromuscular scoliosis an extremely complex issue, best addressed when a team approach is applied. Continuously improving techniques of conservative management, comprising bracing and physiotherapy, together with correctly timed surgery incorporated in the process of rehabilitation, provide the optimal care for patients.

  15. Attention-deficit/hyperactivity disorder in adolescence predicts onset of major depressive disorder through early adulthood.

    PubMed

    Meinzer, Michael C; Lewinsohn, Peter M; Pettit, Jeremy W; Seeley, John R; Gau, Jeff M; Chronis-Tuscano, Andrea; Waxmonsky, James G

    2013-06-01

    The aim of this study was to examine the prospective relationship between a history of attention-deficit/hyperactivity disorder (ADHD) assessed in mid-adolescence and the onset of major depressive disorder (MDD) through early adulthood in a large school-based sample. A secondary aim was to examine whether this relationship was robust after accounting for comorbid psychopathology and psychosocial impairment. One thousand five hundred seven participants from the Oregon Adolescent Depression Project completed rating scales in adolescence and structured diagnostic interviews up to four times from adolescence to age 30. Adolescents with a lifetime history of ADHD were at significantly higher risk of MDD through early adulthood relative to those with no history of ADHD. ADHD remained a significant predictor of MDD after controlling for gender, lifetime history of other psychiatric disorders in adolescence, social and academic impairment in adolescence, stress and coping in adolescence, and new onset of other psychiatric disorders through early adulthood (hazard ratio, 1.81; 95% confidence interval, 1.04, 3.06). Additional significant, robust predictors of MDD included female gender, a lifetime history of an anxiety disorder, and poor coping skills in mid-adolescence, as well as the onset of anxiety, oppositional defiant disorder, and substance-use disorder after mid-adolescence. A history of ADHD in adolescence was associated with elevated risk of MDD through early adulthood and this relationship remained significant after controlling for psychosocial impairment in adolescence and co-occurring psychiatric disorders. Additional work is needed to identify the mechanisms of risk and to inform depression prevention programs for adolescents with ADHD. © 2013 Wiley Periodicals, Inc.

  16. Comparison of microbial pattern in early and late onset neonatal sepsis in referral center Haji Adam Malik hospital Medan Indonesia

    NASA Astrophysics Data System (ADS)

    Hasibuan, B. S.

    2018-03-01

    Neonatal sepsis contributes a significant rate of infants mortality and morbidity. The pathogens are diverse from region to another and change time to time even in the same place. To analyze the microbial pattern in early and late onset neonatal sepsis andthe pattern of antibiotic resistance of the causative microbes at one of referral center hospital in Indonesia, Haji Adam Malik Hospital, a cross-sectional descriptive study was conducted on neonates with sepsis diagnosis proven with positive blood culture within one year period (2015-2016). Among 626 neonates admitted to perinatology unit, the total of 154 neonates was proven to have neonatal sepsis with positive blood culture with the incidence rate 24.6%. Seventy-nine (51.3%) neonates were diagnosed with early onset sepsis while 75 (48,7%) neonates had late-onset sepsis. Klebsiella pneumonia was the most commonly isolated organism in both early and late onset sepsis, encompassing 19.5% of cases. Periodic surveillance of the causative agents of neonatal sepsis is needed to implement the rational, empirical choice of antibiotic prescription while waiting for blood culture result to come out.

  17. Epidemiology of early-onset dementia: a review of the literature

    PubMed Central

    Vieira, Renata Teles; Caixeta, Leonardo; Machado, Sergio; Silva, Adriana Cardoso; Nardi, Antonio Egidio; Arias-Carrión, Oscar; Carta, Mauro Giovanni

    2013-01-01

    Presenile Dementia or Early Onset Dementia (EOD) is a public health problem, it differs from Senile Dementia, and encloses a significant number of cases; nevertheless, it is still poorly understood and underdiagnosed. This study aims to review the prevalence and etiology of EOD, comparing EOD with Senile Dementia, as well as to show the main causes of EOD and their prevalence in population and non-population based studies. The computer-supported search used the following databases: Pubmed/Medline, ISI Web of Knowledge and Scielo. The search terms were alcohol-associated dementia, Alzheimer’s disease, dementia, Creutzfeldt-jakob disease, dementia with lewy bodies, early onset dementia, frontotemporal lobar degeneration, Huntington’s disease, mixed dementia, neurodegenerative disorders, Parkinson’s disease dementia, presenile dementia, traumatic brain injury, vascular dementia. Only papers published in English and conducted from 1985 up to 2012 were preferentially reviewed. Neurodegenerative diseases are the most common etiologies seen in EOD. Among the general population, the prevalence of EOD was found to range between 0 to 700 per 100.000 habitants in groups of 25-64 years old, with an increasing incidence with age. The progression of EOD was found to range between 8.3 to 22.8 new cases per 100.000 in those aged under 65 years. Alzheimer's disease (AD) is the major etiology, followed by Vascular Dementia (VaD) and Frontotemporal Lobar Degeneration (FTLD). A larger number of epidemiological studies to elucidate how environmental issues contribute to EOD are necessary, thus, we can collaborate in the planning and prevention of services toward dementia patients. PMID:23878613

  18. Quantitative analysis of a spinal surgeon's learning curve for scoliosis surgery.

    PubMed

    Ryu, K J; Suh, S W; Kim, H W; Lee, D H; Yoon, Y; Hwang, J H

    2016-05-01

    The aim of this study was a quantitative analysis of a surgeon's learning curve for scoliosis surgery and the relationship between the surgeon's experience and post-operative outcomes, which has not been previously well described. We have investigated the operating time as a function of the number of patients to determine a specific pattern; we analysed factors affecting the operating time and compared intra- and post-operative outcomes. We analysed 47 consecutive patients undergoing scoliosis surgery performed by a single, non-trained scoliosis surgeon. Operating time was recorded for each of the four parts of the procedures: dissection, placement of pedicle screws, reduction of the deformity and wound closure. The median operating time was 310 minutes (interquartile range 277.5 to 432.5). The pattern showed a continuous decreasing trend in operating time until the patient number reached 23 to 25, after which it stabilised with fewer patient-dependent changes. The operating time was more affected by the patient number (r =- 0.75) than the number of levels fused (r = 0.59). Blood loss (p = 0.016) and length of stay in hospital (p = 0.012) were significantly less after the operating time stabilised. Post-operative functional outcome scores and the rate of complications showed no significant differences. We describe a detailed learning curve for scoliosis surgery based on a single surgeon's practise, providing useful information for novice scoliosis surgeons and for those responsible for training in spinal surgery. Cite this article: Bone Joint J 2016;98-B:679-85. ©2016 The British Editorial Society of Bone & Joint Surgery.

  19. Effects of Bracing in Adult With Scoliosis: A Retrospective Study.

    PubMed

    Palazzo, Clémence; Montigny, Jean-Paul; Barbot, Frédéric; Bussel, Bernard; Vaugier, Isabelle; Fort, Didier; Courtois, Isabelle; Marty-Poumarat, Catherine

    2017-01-01

    To assess the effectiveness of bracing in adult with scoliosis. Retrospective cohort study. Outpatients followed in 2 tertiary care hospitals. Adults (N=38) with nonoperated progressive idiopathic or degenerative scoliosis treated by custom-molded lumbar-sacral orthoses, with a minimum follow-up time of 10 years before bracing and 5 years after bracing. Progression was defined as a variation in Cobb angle ≥10° between the first and the last radiograph before bracing. The brace was prescribed to be worn for a minimum of 6h/d. Not applicable. Rate of progression of the Cobb angle before and after bracing measured on upright 3-ft full-spine radiographs. At the moment of bracing, the mean age was 61.3±8.2 years, and the mean Cobb angle was 49.6°±17.7°. The mean follow-up time was 22.0±11.1 years before bracing and 8.7±3.3 years after bracing. For both types of scoliosis, the rate of progression decreased from 1.28°±.79°/y before to .21°±.43°/y after bracing (P<.0001). For degenerative and idiopathic scoliosis, it dropped from 1.47°±.83°/y before to .24°±.43°/y after bracing (P<.0001) and .70°±.06°/y before to .24°±.43°/y after bracing (P=.03), respectively. For the first time, to our knowledge, this study suggests that underarm bracing may be effective in slowing down the rate of progression in adult scoliosis. Further prospective studies are needed to confirm these results. Copyright © 2016 American Congress of Rehabilitation Medicine. Published by Elsevier Inc. All rights reserved.

  20. The Etiology and Clinical Course of Chronic Pancreatitis in Children With Early Onset of the Disease.

    PubMed

    Wejnarska, Karolina; Kolodziejczyk, Elwira; Wertheim-Tysarowska, Katarzyna; Dadalski, Maciej; Sobczynska-Tomaszewska, Agnieszka; Kierkus, Jarosław; Bal, Jerzy; Rygiel, Agnieszka Magdalena; Oracz, Grzegorz

    2016-12-01

    The etiological factors of chronic pancreatitis (CP) in children differ from those in adults. To date, no study has assessed the clinical course of CP in young children. The aim of our study was to evaluate the etiology and the clinical presentation of the disease in children with disease onset before 5 years of age in comparison to later-onset of CP. A total of 276 children with CP, hospitalized from 1988 to 2015, were enrolled in the study. Data on presentation, diagnostic findings, and treatment were reviewed. Two hundred sixty patients were screened for the most frequent mutations in major pancreatitis-associated genes, such as cationic trypsinogen/serine protease gene (PRSS1), serine protease inhibitor, Kazal type 1 gene (SPINK1), and cystic fibrosis transmembrane conductance regulator gene (CFTR). The disease onset before the age of 5 years occurred in 51 patients (group 1), the later onset in 225 patients (group 2). We found no significant discrepancies in distribution of the etiological factors between groups. The youngest patients (group 1) had more pancreatitis episodes (median 5.0 vs 3.00; P < 0.05) and underwent surgeries more frequently (25.5% vs 8.9%; P < 0.05). It could be associated with significantly longer follow-up in early onset group (median 6 vs 4 years; P < 0.05). There were no differences in nutritional status or exocrine and endocrine pancreatic function. Early- and later-onset pancreatitis have similar etiological factors with predominance of gene mutations. The most frequent mutation found was p.Asn34Ser (N34S) in SPINK1 gene. The clinical presentation differed in number of pancreatitis episodes and frequency of surgeries.

  1. Conventional metrizamide myelography (MM) and computed tomographic metrizamide myelography (CTMM) in scoliosis: a comparative study

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Pettersson, H.; Harwood-Nash, D.C.; Fitz, C.R.

    1982-01-01

    A retrospective examination was performed to assess the accuracy of metrizamide myelography (MM) and computed tomographic metrizamide myelography (CTMM) in scoliosis. Of 81 consecutive scoliotic children studied by myelography, 30 had only MM while the remaining 51 had CTMM immediately afterward. CTMM added esential diagnostic information in 13 cases of dysraphism and 4 cases, both methods gave the same imformation. The outhors conclude that in patients with severe scoliosis, dysraphism, and scoliosis with localized neurological disturbances, CTMM should always be added to MM or be the only examination; while in idiopathic scoliosis with vague neurological disturbances a survey of themore » entire spine is essential, preferably with MM.« less

  2. Three-Dimensional Vertebral Wedging in Mild and Moderate Adolescent Idiopathic Scoliosis

    PubMed Central

    Scherrer, Sophie-Anne; Begon, Mickaël; Leardini, Alberto; Coillard, Christine; Rivard, Charles-Hilaire; Allard, Paul

    2013-01-01

    Background Vertebral wedging is associated with spinal deformity progression in adolescent idiopathic scoliosis. Reporting frontal and sagittal wedging separately could be misleading since these are projected values of a single three-dimensional deformation of the vertebral body. The objectives of this study were to determine if three-dimensional vertebral body wedging is present in mild scoliosis and if there are a preferential vertebral level, position and plane of deformation with increasing scoliotic severity. Methodology Twenty-seven adolescent idiopathic scoliotic girls with mild to moderate Cobb angles (10° to 50°) participated in this study. All subjects had at least one set of bi-planar radiographs taken with the EOS® X-ray imaging system prior to any treatment. Subjects were divided into two groups, separating the mild (under 20°) from the moderate (20° and over) spinal scoliotic deformities. Wedging was calculated in three different geometric planes with respect to the smallest edge of the vertebral body. Results Factorial analyses of variance revealed a main effect for the scoliosis severity but no main effect of vertebral Levels (apex and each of the three vertebrae above and below it) (F = 1.78, p = 0.101). Main effects of vertebral Positions (apex and above or below it) (F = 4.20, p = 0.015) and wedging Planes (F = 34.36, p<0.001) were also noted. Post-hoc analysis demonstrated a greater wedging in the inferior group of vertebrae (3.6°) than the superior group (2.9°, p = 0.019) and a significantly greater wedging (p≤0.03) along the sagittal plane (4.3°). Conclusions Vertebral wedging was present in mild scoliosis and increased as the scoliosis progressed. The greater wedging of the inferior group of vertebrae could be important in estimating the most distal vertebral segment to be restrained by bracing or to be fused in surgery. Largest vertebral body wedging values obtained in the sagittal plane support the claim

  3. Understanding Tobacco Use Onset Among African Americans

    PubMed Central

    Colby, Suzanne M.; Lu, Bo; Ferketich, Amy K.

    2016-01-01

    Introduction: Compared to the majority of non-Hispanic white (“white”) cigarette smokers, many African American smokers demonstrate a later age of initiation. The goal of the present study was to examine African American late-onset smoking (ie, regular smoking beginning at age 18 or later) and determine whether late-onset (vs. early-onset) smoking is protective in terms of quit rates and health outcomes. Methods: We used data from the National Survey of Midlife Development in the United States (MIDUS) because the wide age range of participants (20–75 at baseline) allowed the examination of smoking cessation and mortality incidence across the lifespan. Results: Consistent with previous research, results indicated a later average age of smoking onset among African Americans, compared to whites. Disentangling effects of race from age-of-onset, we found that the cessation rate among late-onset African American smokers was 33%, whereas rates for early-onset African American smokers and early- and late-onset white smokers ranged from 52% to 57%. Finally, results showed that among white, low-socioeconomic status (SES) smokers, the hazard rate for mortality was greater among early- versus late-onset smokers; in contrast, among African American smokers (both low- and high-SES) hazard rates for mortality did not significantly differ among early- versus late-onset smokers. Conclusions: Although late (vs. early) smoking onset may be protective for whites, the present results suggest that late-onset may not be similarly protective for African Americans. Tobacco programs and regulatory policies focused on prevention should expand their perspective to include later ages of initiation, in order to avoid widening tobacco-related health disparities. Implications: This study indicates that late-onset smoking is not only the norm among African American adult smokers, but that late- versus early-onset smoking (ie, delaying onset) does not appear to afford any benefits for African

  4. A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome.

    PubMed

    Sartori, Stefano; Di Rosa, Gabriella; Polli, Roberta; Bettella, Elisa; Tricomi, Giovanni; Tortorella, Gaetano; Murgia, Alessandra

    2009-02-01

    Mutations of the cyclin-dependent kinase-like 5 gene (CDKL5), reported almost exclusively in female subjects, have been recently found to be the cause of a phenotype overlapping Rett syndrome with early-onset epileptic encephalopathy. We describe the first CDKL5 mutation detected in a male individual with 47,XXY karyotype. This previously unreported, de novo, mutation truncates the large CDKL5 COOH-terminal region, thought to be crucial for the proper sub-cellular localization of the CDKL5 protein. The resulting phenotype is characterized by a severe early-onset epileptic encephalopathy, global developmental delay, and profound intellectual and motor impairment with features reminiscent of Rett syndrome. In light of the data presented we discuss the possible phenotypic modulatory effects of the supernumerary wild type X allele and pattern of X chromosome inactivation and stress the importance of considering the causal involvement of CDKL5 in developmentally delayed males with early-onset seizures. (c) 2009 Wiley-Liss, Inc.

  5. IRAK-M Is Involved in the Pathogenesis of Early-Onset Persistent Asthma

    PubMed Central

    Balaci, Lenuta ; Spada, Maria Cristina ; Olla, Nazario ; Sole, Gabriella ; Loddo, Laura ; Anedda, Francesca ; Naitza, Silvia ; Zuncheddu, Maria Antonietta ; Maschio, Andrea ; Altea, Daniele ; Uda, Manuela ; Pilia, Sabrina ; Sanna, Serena ; Masala, Marco ; Crisponi, Laura ; Fattori, Matilde ; Devoto, Marcella ; Doratiotto, Silvia ; Rassu, Stefania ; Mereu, Simonetta ; Giua, Enrico ; Cadeddu, Natalina Graziella ; Atzeni, Roberto ; Pelosi, Umberto ; Corrias, Adriano ; Perra, Roberto ; Torrazza, Pier Luigi ; Pirina, Pietro ; Ginesu, Francesco ; Marcias, Silvano ; Schintu, Maria Grazia ; Giacco, Gennaro Sergio Del ; Manconi, Paolo Emilio ; Malerba, Giovanni ; Bisognin, Andrea ; Trabetti, Elisabetta ; Boner, Attilio ; Pescollderungg, Lydia ; Pignatti, Pier Franco ; Schlessinger, David ; Cao, Antonio ; Pilia, Giuseppe 

    2007-01-01

    Asthma is a multifactorial disease influenced by genetic and environmental factors. In the past decade, several loci and >100 genes have been found to be associated with the disease in at least one population. Among these loci, region 12q13-24 has been implicated in asthma etiology in multiple populations, suggesting that it harbors one or more asthma susceptibility genes. We performed linkage and association analyses by transmission/disequilibrium test and case-control analysis in the candidate region 12q13-24, using the Sardinian founder population, in which limited heterogeneity of pathogenetic alleles for monogenic and complex disorders as well as of environmental conditions should facilitate the study of multifactorial traits. We analyzed our cohort, using a cutoff age of 13 years at asthma onset, and detected significant linkage to a portion of 12q13-24. We identified IRAK-M as the gene contributing to the linkage and showed that it is associated with early-onset persistent asthma. We defined protective and predisposing SNP haplotypes and replicated associations in an outbred Italian population. Sequence analysis in patients found mutations, including inactivating lesions, in the IRAK-M coding region. Immunohistochemistry of lung biopsies showed that IRAK-M is highly expressed in epithelial cells. We report that IRAK-M is involved in the pathogenesis of early-onset persistent asthma. IRAK-M, a negative regulator of the Toll-like receptor/IL-1R pathways, is a master regulator of NF-κB and inflammation. Our data suggest a mechanistic link between hyperactivation of the innate immune system and chronic airway inflammation and indicate IRAK-M as a potential target for therapeutic intervention against asthma. PMID:17503328

  6. Scoliosis epidemiology is not similar all over the world: a study from a scoliosis school screening on Chongming Island (China).

    PubMed

    Du, Qing; Zhou, Xuan; Negrini, Stefano; Chen, Nan; Yang, Xiaoyan; Liang, Juping; Sun, Kun

    2016-07-22

    School scoliosis screening has been carried out around the world. The screen program has never been performed on Chongming Island, the third largest island in China and characterized less population exchange with the rest of China. This study was designed to examine scoliotic parameters in children from Chongming Island and determine whether the parameters differed from those of the published data. A total of 6824 children (3477 boys and 3347 girls) aged from 6 to 17 were recruited. The screen included Adam's test and scoliometer measurements. Posteroanterior radiographic evaluation was performed if trunk rotation was 5° or more. One hundred seventy two were confirmed with Cobb angle of 10° or more; the prevalence was 2.52 %, higher in girls (3.11 %) than in boys (1.96 %) (p < 0.05). There was a weak positive correlation between prevalence and age. Majority curves were minor (from 10 to 19°). The most common thoracic curve was right curve (60.3 % of all thoracic curves), while the most common thoracolumbar (75.5 %) and lumbar curves (64.7 %) were left curves. The prevalence of scoliosis on Chongming Island was 2.52 %. This study indicates that epidemiology of scoliosis has regional variation, and genetic differences may contribute such difference.

  7. Co-occurring problems of early onset persistent, childhood limited, and adolescent onset conduct problem youth.

    PubMed

    Barker, Edward D; Oliver, Bonamy R; Maughan, Barbara

    2010-11-01

    It is increasingly recognized that youth who follow early onset persistent (EOP), childhood limited (CL) and adolescent onset (AO) trajectories of conduct problems show somewhat varying patterns of risk (in childhood) and adjustment problems (in adolescence and adulthood). Little, however, is known about how other adjustment problems differentially co-develop with the EOP, CL and AO trajectories across the childhood and adolescent years. Using data from the Avon Longitudinal Study of Parents and Children, an epidemiological, longitudinal cohort of boys and girls, we estimated growth curves for parent-reported hyperactivity, emotional difficulties, peer relational problems, and prosocial behaviors conditional on trajectories of conduct problems (i.e., EOP, CL and AO) from ages 4 to 13 years. At ages 7-8 years, DSM-IV-based diagnoses of conduct disorder, oppositional-defiant disorder, attention deficit/hyperactivity disorder (ADHD), anxiety, depression were examined by conduct problems trajectory. Overall, the development of hyperactivity, emotional difficulties, peer relational problems, and prosocial behaviors mirrored the development of conduct problems, showing similar trajectories. Results indicated that the problems of EOP youth were persistent across domains, CL youth showed decreased behavior problems while increasing in prosocial behaviors, and AO youth increased in adjustment problems after 10 years of age. © 2010 The Authors. Journal of Child Psychology and Psychiatry © 2010 Association for Child and Adolescent Mental Health.

  8. Association Between Early-Onset Parkinson Disease and 22q11.2 Deletion Syndrome

    PubMed Central

    Butcher, Nancy J.; Kiehl, Tim-Rasmus; Hazrati, Lili-Naz; Chow, Eva W. C.; Rogaeva, Ekaterina; Lang, Anthony E.; Bassett, Anne S.

    2015-01-01

    IMPORTANCE Clinical case reports of parkinsonism co-occurring with hemizygous 22q11.2 deletions and the associated multisystem syndrome, 22q11.2 deletion syndrome (22q11.2DS), suggest that 22q11.2 deletions may lead to increased risk of early-onset Parkinson disease (PD). The frequency of PD and its neuropathological presentation remain unknown in this common genetic condition. OBJECTIVE To evaluate a possible association between 22q11.2 deletions and PD. DESIGN, SETTING, AND PARTICIPANTS An observational study of the occurrence of PD in the world’s largest cohort of well-characterized adults with a molecularly confirmed diagnosis of 22q11.2DS (n = 159 [6 with postmortem tissue]; age range, 18.1–68.6 years) was conducted in Toronto, Ontario, Canada. Rare postmortem brain tissue from individuals with 22q11.2DS and a clinical history of PD was investigated for neurodegenerative changes and compared with that from individuals with no history of a movement disorder. MAIN OUTCOMES AND MEASURES A clinical diagnosis of PD made by a neurologist and neuropathological features of PD. RESULTS Adults with 22q11.2DS had a significantly elevated occurrence of PD compared with standard population estimates (standardized morbidity ratio = 69.7; 95% CI, 19.0–178.5). All cases showed early onset and typical PD symptom pattern, treatment response, and course. All were negative for family history of PD and known pathogenic PD-related mutations. The common use of antipsychotics in patients with 22q11.2DS to manage associated psychiatric symptoms delayed diagnosis of PD by up to 10 years. Postmortem brain tissue revealed classic loss of midbrain dopaminergic neurons in all 3 postmortem 22q11.2DS-PD cases. Typical α-synuclein–positive Lewy bodies were present in the expected distribution in 2 cases but absent in another. CONCLUSIONS AND RELEVANCE These findings suggest that 22q11.2 deletions represent a novel genetic risk factor for early-onset PD with variable neuropathological

  9. Early severe scoliosis in a patient with atypical progressive pseudorheumatoid dysplasia (PPD): Identification of two WISP3 mutations, one previously unreported.

    PubMed

    Montané, Lucia Sentchordi; Marín, Oliver R; Rivera-Pedroza, Carlos I; Vallespín, Elena; Del Pozo, Ángela; Heath, Karen E

    2016-06-01

    Progressive pseudorheumatoid dysplasia (PPD) is a rare autosomal recessive disorder characterized by spondyloepiphyseal dysplasia associated with pain and stiffness of multiple joints, enlargement of the interphalangeal joints, normal inflammatory parameters, and absence of extra-skeletal manifestations. Homozygous or compound heterozygous WISP3 mutations cause PPD. We report two siblings from a non-consanguineous Ecuadorian family with a late-onset spondyloepiphyseal dysplasia. Mutation screening was undertaken in the two affected siblings using a customized skeletal dysplasia next generation sequencing (NGS) panel and confirmed by Sanger sequencing. Two compound heterozygous mutations were identified in WISP3 exon 2, c.[190G>A];[197G>A] (p.[(Gly64Arg)];[(Ser66Asn)]) in the two siblings, both of which had been inherited. The p. (Gly64Arg) mutation has not been previously described whilst the p. (Ser66Asn) mutation has been reported in two PPD families. The two siblings presented with atypical PPD, as they presented during late childhood, yet the severity was different between them. The progression was particularly aggressive in the male sibling who suffered severe scoliosis by the age of 13 years. This case reaffirms the clinical heterogeneity of this disorder and the clinical utility of NGS to genetically diagnose skeletal dysplasias, enabling adequate management, monitorization, and genetic counseling. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  10. Torsional deformity of apical vertebra in adolescent idiopathic scoliosis.

    PubMed

    Kotwicki, Tomasz; Napiontek, Marek

    2002-01-01

    CT scans of structural thoracic idiopathic scoliosis were reviewed in nine patients admitted to our department for scoliosis surgery. The apical vertebra scans were chosen and the following parameters were evaluated: 1) alpha angle formed by the axis of vertebra and the axis of spinous process 2) beta concave and beta convex angle between the spinous process and the left and right transverse process, respectively, 3) gamma concave and gamma convex angle between the axis of vertebra and the left and right transverse process, respectively, 4) the rotation angle to the sagittal plane. The constant deviation of the spinous process towards the convex side of the curve was observed. The vertebral body itself was distorted towards the concavity of the curve. The angle between the spinous process and the transverse process was smaller on the convex side of the curve. The torsional, intravertebral deformity of the apical vertebra was a factor acting in the direction opposite to the rotation, in the sense to reduce the deformity of the spine in idiopathic scoliosis.

  11. Early Onset Ageing and Service Preparation in People with Intellectual Disabilities: Institutional Managers' Perspective

    ERIC Educational Resources Information Center

    Lin, Jin-Ding; Wu, Chia-Ling; Lin, Pei-Ying; Lin, Lan-Ping; Chu, Cordia M.

    2011-01-01

    Although longevity among older adults with intellectual disabilities is increasing, there is limited information on their premature aging related health characteristics and how it may change with increasing age. The present paper provides information of the institutional manager's perception on early onset aging and service preparation for this…

  12. Early-Onset Chronic Obstructive Pulmonary Disease Is Associated with Female Sex, Maternal Factors, and African American Race in the COPDGene Study

    PubMed Central

    Foreman, Marilyn G.; Zhang, Lening; Murphy, James; Hansel, Nadia N.; Make, Barry; Hokanson, John E.; Washko, George; Regan, Elizabeth A.; Crapo, James D.; Silverman, Edwin K.

    2011-01-01

    Rationale: The characterization of young adults who develop late-onset diseases may augment the detection of novel genes and promote new pathogenic insights. Methods: We analyzed data from 2,500 individuals of African and European ancestry in the COPDGene Study. Subjects with severe, early-onset chronic obstructive pulmonary disease (COPD) (n = 70, age < 55 yr, FEV1 < 50% predicted) were compared with older subjects with COPD (n = 306, age > 64 yr, FEV1 < 50% predicted). Measurements and Main Results: Subjects with severe, early-onset COPD were predominantly females (66%), P = 0.0004. Proportionally, early-onset COPD was seen in 42% (25 of 59) of African Americans versus 14% (45 of 317) of non-Hispanic whites, P < 0.0001. Other risk factors included current smoking (56 vs. 17%, P < 0.0001) and self-report of asthma (39 vs. 25%, P = 0.008). Maternal smoking (70 vs. 44%, P = 0.0001) and maternal COPD (23 vs. 12%, P = 0.03) were reported more commonly in subjects with early-onset COPD. Multivariable regression analysis found association with African American race, odds ratio (OR), 7.5 (95% confidence interval [CI], 2.3–24; P = 0.0007); maternal COPD, OR, 4.7 (95% CI, 1.3–17; P = 0.02); female sex, OR, 3.1 (95% CI, 1.1–8.7; P = 0.03); and each pack-year of smoking, OR, 0.98 (95% CI, 0.96–1.0; P = 0.03). Conclusions: These observations support the hypothesis that severe, early-onset COPD is prevalent in females and is influenced by maternal factors. Future genetic studies should evaluate (1) gene-by-sex interactions to address sex-specific genetic contributions and (2) gene-by-race interactions. PMID:21562134

  13. Cross-cultural comparison of the Scoliosis Research Society Outcomes Instrument between American and Japanese idiopathic scoliosis patients: are there differences?

    PubMed

    Watanabe, Kei; Lenke, Lawrence G; Bridwell, Keith H; Hasegawa, Kazuhiro; Hirano, Toru; Endo, Naoto; Cheh, Gene; Kim, Yongjung J; Hensley, Marsha; Stobbs, Georgia; Koester, Linda

    2007-11-15

    A comparative study. To report a preliminary evaluation of the Scoliosis Research Society Outcomes Instrument (SRS-24) and determine whether differences in baseline scores exist between American and Japanese patients with idiopathic scoliosis. Because the SRS outcomes instrument was primarily introduced for the American population, baseline scores in the Japanese population might differ from the American population. A comparative study using the SRS instrument between American and Japanese patients with idiopathic scoliosis has not been reported. Two comparable groups of 100 idiopathic scoliosis patients before spinal fusion were separated into American (A) and Japanese (J). There were no statistically significant differences between the groups for gender (A: 9 men/91 women vs. J: 13 men/87 women), age (A: 15.0 +/- 2.4 vs. J: 14.9 +/- 3.8), main curve location (A: 77 thoracic/23 lumbar, J: 76 thoracic/24 lumbar), main curve Cobb angle (A: 50.5 +/- 5.2 vs. J: 51.1 +/- 8.7), and thoracic kyphosis (A: 20.9 +/- 14.3 vs. J: 19.9 +/- 12.1) (P > 0.05, for all comparisons). Patients were evaluated using the first section of the SRS-24 which was divided into 4 domains: total pain, general self-image, general function, and activity. SRS-24 scores were statistical compared in individual domains and questions using the Mann-Whitney U test. American patients had significantly lower scores in pain (P < 0.0001, A: 3.7 +/- 0.8 vs. J: 4.3 +/- 0.4), function (P < 0.01, A: 3.9 +/- 0.6 vs. J: 4.2 +/- 0.5), and activity (P < 0.0001, A: 4.5 +/- 0.8 vs. J: 4.9 +/- 0.3) domains compared with Japanese patients. Japanese patients had significantly lower scores in the self-image (P < 0.0001, A: 4.0 +/- 0.7 vs. J: 3.5 +/- 0.5) domain. With regard to individual questions, there were significant differences in the scores between the 2 groups for all questions except 5 and 13 (P < 0.05, for all comparisons). SRS-24 scores in the Japanese idiopathic scoliosis population differed from that of the

  14. Gene expression profiling at birth characterizing the preterm infant with early onset infection.

    PubMed

    Hilgendorff, Anne; Windhorst, Anita; Klein, Manuel; Tchatalbachev, Svetlin; Windemuth-Kieselbach, Christine; Kreuder, Joachim; Heckmann, Matthias; Gkatzoflia, Anna; Ehrhardt, Harald; Mysliwietz, Josef; Maier, Michael; Izar, Benjamin; Billion, Andre; Gortner, Ludwig; Chakraborty, Trinad; Hossain, Hamid

    2017-02-01

    Early onset infection (EOI) in preterm infants <32 weeks gestational age (GA) is associated with a high mortality rate and the development of severe acute and long-term complications. The pathophysiology of EOI is not fully understood and clinical and laboratory signs of early onset infections in this patient cohort are often not conclusive. Thus, the aim of this study was to identify signatures characterizing preterm infants with EOI by using genome-wide gene expression (GWGE) analyses from umbilical arterial blood of preterm infants. This prospective cohort study was conducted in preterm infants <32 weeks GA. GWGE analyses using CodeLink human microarrays were performed from umbilical arterial blood of preterm infants with and without EOI. GWGE analyses revealed differential expression of 292 genes in preterm infants with EOI as compared to infants without EOI. Infants with EOI could be further differentiated into two subclasses and were distinguished by the magnitude of the expression of genes involved in both neutrophil and T cell activation. A hallmark activity for both subclasses of EOI was a common suppression of genes involved in natural killer (NK) cell function, which was independent from NK cell numbers. Significant results were recapitulated in an independent validation cohort. Gene expression profiling may enable early and more precise diagnosis of EOI in preterm infants. Gene expression (GE) profiling at birth characterizes preterm infants with EOI. GE analysis indicates dysregulation of NK cell activity. NK cell activity at birth may be a useful marker to improve early diagnosis of EOI.

  15. Impact of DNA testing for early-onset familial Alzheimer disease and frontotemporal dementia.

    PubMed

    Steinbart, E J; Smith, C O; Poorkaj, P; Bird, T D

    2001-11-01

    DNA testing of persons at risk for hereditary, degenerative neurologic diseases is relatively new. Only anecdotal reports of such testing in familial Alzheimer disease (FAD) exist, and little is know about the personal and social impact of such testing. In a descriptive, observational study, individuals at 50% risk for autosomal dominant, early-onset FAD or frontotemporal dementia with parkinsonism linked to chromosome 17 underwent DNA testing for the genetic mutations previously identified in affected family members. Individuals were followed up for (1/2) to 3 years and were interviewed regarding attitudes toward the testing process and the impact of the results. Twenty-one (8.4%) of 251 persons at risk for FAD or frontotemporal dementia requested genetic testing. The most common reasons for requesting testing were concern about early symptoms of dementia, financial or family planning, and relief from anxiety. Twelve individuals had positive DNA test results, and 6 of these had early symptoms of dementia; 8 had negative results; and 1 has not yet received results. Of 14 asymptomatic individuals completing testing, 13 believed the testing was beneficial. Two persons reported moderate anxiety and 1 reported moderate depression. As expected, persons with negative test results had happier experiences overall, but even they had to deal with ongoing anxiety and depression. Thus far, there have been no psychiatric hospitalizations, suicide attempts, or denials of insurance. Genetic testing in early-onset FAD and frontotemporal dementia can be completed successfully. Most individuals demonstrate effective coping skills and find the testing to be beneficial, but long-term effects remain unknown.

  16. Validation of a Japanese version of the Scoliosis Research Society-22 Patient Questionnaire among idiopathic scoliosis patients in Japan.

    PubMed

    Hashimoto, Hideki; Sase, Takeshi; Arai, Yasuhisa; Maruyama, Toru; Isobe, Keijirou; Shouno, Yasuhiro

    2007-02-15

    A cross-sectional observational study to determine the response distribution, internal consistency, and construct, concurrent, and discriminative validities of The Scoliosis Research Society-22 (SRS-22) Patient Questionnaire translated into Japanese as compared with the other language versions. To validate the Japanese version of SRS22. The SRS-22 was translated into several languages but yet not into Japanese. The Japanese SRS-22 and Medical Outcomes Study Short Form 36 were simultaneously administered to 114 adolescent idiopathic scoliosis patients. Exploratory factor analysis revealed a 4-factor structure, though several items were not loaded as theoretically expected. The originally constructed Japanese SRS-22 subscales and the English version showed similar response distribution. Internal consistency was fair but lower than that of the English version. The concurrent validity of the translated version, except for the self-image subscale, was supported using Medical Outcomes Study Short Form 36 subscales as a reference. The function scale differed significantly by curve angle magnitude and treatment status. The self-image score was the highest in patients under observation when curve angle was < 40 degrees, while postsurgical patients marked the highest scores when the angle > or = 40 degrees, respectively. The Japanese SRS-22 is valid and may be useful for clinical evaluation of Japanese scoliosis patients, though the self-image subscale may need further assessment.

  17. Pre- and postoperative photographs and surgical outcomes in patients with Lenke type 1 adolescent idiopathic scoliosis.

    PubMed

    Albayrak, Akif; Buyuk, Abdul Fettah; Ucpunar, Hanifi; Balioglu, Mehmet Bulent; Kargin, Deniz; Kaygusuz, Mehmet Akif

    2015-04-01

    Clinical study with pre- and postoperative back photographs and postoperative Scoliosis Research Society-22 survey in patients who had undergone surgery for idiopathic scoliosis. To determine the effect of showing patients their photographs before and after surgery for idiopathic scoliosis on postoperative patient satisfaction. After scoliosis surgery, patient satisfaction may be limited because the patients cannot directly see their back and may forget the preoperative appearance. In 60 patients who had undergone surgery for correction of idiopathic scoliosis (Lenke type 1), pre- and postoperative photographs were taken from the anterior, posterior, and right and left lateral views. After surgery, patients in group 1 (30 patients) were shown the preoperative and most recent follow-up photographs, and patients in group 2 (30 patients) had routine evaluation but were not shown their photographs. All patients completed the Scoliosis Research Society-22 survey. Patients in both groups had similar age, sex, distribution of Lenke type and Risser sign, follow-up, and pre- and postoperative Cobb angles and balance (coronal and sagittal). A significant difference was observed between the groups for survey question 10 (which was about self-image), question 18 (which was about function and activity), and question 21 (which was about satisfaction) (P ≤ 0.05). There were no differences between patients in groups 1 and 2 in Scoliosis Research Society-22 domain or total scores. By showing patients the pre- and postoperative clinical photographs, patient satisfaction may be greater, as measured with some SRS-22 scores. This method may enable clinicians to positively change the patients' self-image perception after surgery for correction of scoliosis. 4.

  18. Effects of living environment on the postoperative Scoliosis Research Society-24 results in females with adolescent idiopathic scoliosis.

    PubMed

    Misterska, Ewa; Głowacki, Maciej; Panek, Sławomir; Ignyś-O'Byrne, Anna; Głowacki, Jakub; Ignyś, Iwona; Krauss, Hanna; Piątek, Jacek

    2012-08-01

    There are many factors influencing postoperative health-related quality of life of adolescent idiopathic scoliosis patients, including the degree of the deformity, culture, differences in geography, rural versus urban living environments, and social factors. The objective of this study was to analyze the significance of geographic factors and their differences influencing the postoperative quality of life in females with adolescent idiopathic scoliosis residing in urban and rural environments, by use of the Polish version of the SRS-24 questionnaire. Forty urban and 20 rural postoperative patients with adolescent scoliosis with a minimum 2-year follow-up period after surgery were included in the study. The process of cross-cultural adaptation was performed according to the IQOLA Project. General results of the Polish SRS-24 equalled 4.1 (SD 0.5) and 4.0 (SD.0.5) in the rural and urban groups of patients, respectively. The 2 groups do not differ in incidence of floor and ceiling effects. The Cronbach's alpha values are excellent for the general result of SRS-24 in urban and rural groups (0.85 and 0.85, respectively). The sub-groups differed significantly in the self-image after surgery domain (p=0.048). Patients from the rural group scored higher in the self-image after surgery domain but reported higher pain levels when compared to urban patients. The associations between SRS-24 results and radiographic parameters in the rural group of patients were strong, compared with moderate relations reported in the urban group.

  19. Early-Onset Central Diabetes Insipidus due to Compound Heterozygosity for AVP Mutations.

    PubMed

    Bourdet, Karine; Vallette, Sophie; Deladoëy, Johnny; Van Vliet, Guy

    2016-01-01

    Genetic cases of isolated central diabetes insipidus are rare, are mostly due to dominant AVP mutations and have a delayed onset of symptoms. Only 3 consanguineous pedigrees with a recessive form have been published. A boy with a negative family history presented polyuria and failure to thrive in the first months of life and was diagnosed with central diabetes insipidus. Magnetic resonance imaging showed a normal posterior pituitary signal. A molecular genetic analysis of the AVP gene showed that he had inherited a previously reported mutation from his Lebanese father and a novel A>G transition in the splice acceptor site of intron 1 (IVS1-2A>G) from his French-Canadian mother. Replacement therapy resulted in the immediate disappearance of symptoms and in weight gain. The early polyuria in recessive central diabetes insipidus contrasts with the delayed presentation in patients with monoallelic AVP mutations. This diagnosis needs to be considered in infants with very early onset of polyuria-polydipsia and no brain malformation, even if there is no consanguinity and regardless of whether the posterior pituitary is visible or not on imaging. In addition to informing family counseling, making a molecular diagnosis eliminates the need for repeated imaging studies. © 2015 S. Karger AG, Basel.

  20. Abnormalities associated with congenital scoliosis: a retrospective study of 226 Chinese surgical cases.

    PubMed

    Shen, Jianxiong; Wang, Zijia; Liu, Jiaming; Xue, Xuhong; Qiu, Guixing

    2013-05-01

    Retrospective study of a series of 226 consecutive Chinese patients with congenital scoliosis. To identify the incidence of intraspinal abnormalities and other organ defects in surgical patients with congenital scoliosis in Chinese population. Previous studies have revealed high rates of intraspinal anomalies and other organ defects in patients with congenital scoliosis. The incidence of abnormalities in patients with congenital scoliosis in Chinese population has not been reported. A total of 226 patients with congenital scoliosis underwent surgical treatment in Peking Union Medical College Hospital between January 2005 and March 2011 were identified. A definitive diagnosis of congenital scoliosis for all patients was made. Complete data were reviewed, including medical records, plain radiograph, magnetic resonance (MR) image of the whole spine, echocardiography, and renal ultrasound. The incidence of intraspinal abnormalities and other organ defects were analyzed. Intraspinal abnormalities were found in 99 (43%) patients. Diastematomyelia was identified to be the most common intraspinal pathological anomaly, which was different from the previous reports. The incidence of intraspinal anomaly in patients with failures of segmentation and mixed defects were significantly higher than those with failures of formation. Patients with thoracic hemivertebrae were found to have a higher incidence of intraspinal abnormalities than patients with lumbar hemivertebrae. Patients with intraspinal abnormality had a higher incidence of positive clinical findings than those with normal magnetic resonance imaging. However, the difference between the 2 groups was not statistically significant. Other organic defects were found in 91(40%) patients. Cardiac defects were detected in 18%, urogenital anomalies in 12%, and gastrointestinal anomalies in 5% of the patients in this study. Diastematomyelia was found to be the most common intraspinal pathological anomaly and cardiac defects were