Reduced Left Lateralization of Language in Congenitally Blind Individuals.

PubMed

Lane, Connor; Kanjlia, Shipra; Richardson, Hilary; Fulton, Anne; Omaki, Akira; Bedny, Marina

2017-01-01

Language processing depends on a left-lateralized network of frontotemporal cortical regions. This network is remarkably consistent across individuals and cultures. However, there is also evidence that developmental factors, such as delayed exposure to language, can modify this network. Recently, it has been found that, in congenitally blind individuals, the typical frontotemporal language network expands to include parts of "visual" cortices. Here, we report that blindness is also associated with reduced left lateralization in frontotemporal language areas. We analyzed fMRI data from two samples of congenitally blind adults (n = 19 and n = 13) and one sample of congenitally blind children (n = 20). Laterality indices were computed for sentence comprehension relative to three different control conditions: solving math equations (Experiment 1), a memory task with nonwords (Experiment 2), and a "does this come next?" task with music (Experiment 3). Across experiments and participant samples, the frontotemporal language network was less left-lateralized in congenitally blind than in sighted individuals. Reduction in left lateralization was not related to Braille reading ability or amount of occipital plasticity. Notably, we observed a positive correlation between the lateralization of frontotemporal cortex and that of language-responsive occipital areas in blind individuals. Blind individuals with right-lateralized language responses in frontotemporal cortices also had right-lateralized occipital responses to language. Together, these results reveal a modified neurobiology of language in blindness. Our findings suggest that, despite its usual consistency across people, the neurobiology of language can be modified by nonlinguistic experiences.

Nonvisual spatial navigation fMRI lateralizes mesial temporal lobe epilepsy in a patient with congenital blindness.

PubMed

Toller, Gianina; Adhimoolam, Babu; Grunwald, Thomas; Huppertz, Hans-Jürgen; König, Kristina; Jokeit, Hennric

2015-01-01

Nonvisual spatial navigation functional magnetic resonance imaging (fMRI) may help clinicians determine memory lateralization in blind individuals with refractory mesial temporal lobe epilepsy (MTLE). We report on an exceptional case of a congenitally blind woman with late-onset left MTLE undergoing presurgical memory fMRI. To activate mesial temporal structures despite the lack of visual memory, the patient was requested to recall familiar routes using nonvisual multisensory and verbal cues. Our findings demonstrate the diagnostic value of a nonvisual fMRI task to lateralize MTLE despite congenital blindness and may therefore contribute to the risk assessment for postsurgical amnesia in rare cases with refractory MTLE and accompanying congenital blindness.

Nasomaxillary hypoplasia with a congenitally missing tooth treated with LeFort II osteotomy, autotransplantation, and nickel-titanium alloy wire.

PubMed

Ishida, Takayoshi; Ikemoto, Shigehiro; Ono, Takashi

2015-09-01

In some skeletal Class III adult patients with nasomaxillary hypoplasia, the LeFort I osteotomy provides insufficient correction. This case report describes a 20-year-old woman with a combination of nasomaxillary hypoplasia and a protrusive mandible with a congenitally missing mandibular second premolar. We performed a LeFort II osteotomy for maxillary advancement. Autotransplantation of a tooth was also performed; the donor tooth was used to replace the missing permanent tooth. To increase the chance of success, we applied light continuous force with an improved superelastic nickel-titanium alloy wire technique before extraction and after transplantation. The patient's profile and malocclusion were corrected, and the autotransplanted tooth functioned well. The postero-occlusal relationships were improved, and ideal overbite and overjet relationships were achieved. The methods used in this case represent a remarkable treatment. Copyright © 2015 American Association of Orthodontists. Published by Elsevier Inc. All rights reserved.

A new documentation system for congenital absent digits.

PubMed

Jones, Neil F; Kaplan, Jesse

2012-12-01

Congenital absent digits continue to be described by many confusing terms and are currently classified in categories I, V, and VI of the International Federation of Societies for Surgery of the Hand classification and seven subclassification systems. Very few classification systems provide any logical basis for surgical reconstruction. The purpose of this study was to develop a simple alphanumerical documentation system to reproducibly describe the morphological or radiographic appearance of congenital absent digits and facilitate communication of these childrens' hand anomalies from one hand surgeon to another. Dorsal and palmar photographs and PA radiographs of 235 hands in 204 children born with congenital absent digits over a 15-year period were analyzed to determine which digital rays were missing and their level of absence. Each hand can be described by three letters, R (radial), C (central), and U (ulnar), as well as numbers 1-5. The first letter and number designate which rays are missing and the second and third letters and numbers designate which rays remain present. There are 15 morphological phenotypes of congenital absent digits. The three most common phenotypes are U4R1 (a thumb but absence of all four fingers), R1U4 (absent thumb), and R5 (aplastic hand). This new documentation system allows hand surgeons to describe the simple morphological or radiographic appearance of congenital absent digits; incorporates all the previous subclassification systems that have attempted to describe congenital absent digits in radial, central, and ulnar deficiencies, symbrachydactyly, and congenital constriction ring syndrome; and has subsequently allowed the development of an algorithm which predicts whether conventional or microsurgical reconstruction is indicated for each specific phenotype.

The Nature of Foot Ray Deficiency in Congenital Fibular Deficiency.

PubMed

Reyes, Bryan A; Birch, John G; Hootnick, David R; Cherkashin, Alex M; Samchukov, Mikhail L

Absent lateral osseous structures in congenital fibular deficiency, including the distal femur and fibula, have led some authors to refer to the nature of foot ray deficiency as "lateral" as well. Others have suggested that the ray deficiency is in the central portion of the midfoot and forefoot.We sought to determine whether cuboid preservation and/or cuneiform deficiency in the feet of patients with congenital fibular deficiency implied that the ray deficiency is central rather than lateral in patients with congenital fibular deficiency. We identified all patients with a clinical morphologic diagnosis of congenital fibular deficiency at our institution over a 15-year period. We reviewed the records and radiographs of patients who had radiographs of the feet to allow determination of the number of metatarsals, the presence or absence of a cuboid or calcaneocuboid fusion, the number of cuneiforms present (if possible), and any other osseous abnormalities of the foot. We excluded patients with 5-rayed feet, those who had not had radiographs of the feet, or whose radiographs were not adequate to allow accurate assessment of these radiographic features. We defined the characteristic "lateral (fifth) ray present" if there was a well-developed cuboid or calcaneocuboid coalition with which the lateral-most preserved metatarsal articulated. Twenty-six patients with 28 affected feet met radiographic criteria for inclusion in the study. All affected feet had a well-developed cuboid or calcaneocuboid coalition. The lateral-most ray of 25 patients with 26 affected feet articulated with the cuboid or calcaneocuboid coalition. One patient with bilateral fibular deficiency had bilateral partially deficient cuboids, and the lateral-most metatarsal articulated with the medial remnant of the deformed cuboids. Twenty-one of 28 feet with visible cuneiforms had 2 or 1 cuneiform. Although the embryology and pathogenesis of congenital fibular deficiency remain unknown, based on the radiographic features of the feet in this study, congenital fibular deficiency should not be viewed as a global "lateral lower-limb deficiency" nor the foot ray deficiency as "lateral." Level IV-prognostic study.

The prevalence of dental anomalies in the Western region of saudi arabia.

PubMed

Afify, Ahmed R; Zawawi, Khalid H

2012-01-01

Objective. The aim of this cross-sectional study was to investigate the prevalence of dental anomalies that could be a cause of malocclusion in the western region of Saudi Arabia. Materials and Methods. A retrospective study of 878 digital orthopantomograms (OPGs) taken of patients, age ranging between 12 and 30 years, who presented to treatment at the Faculty of Dentistry, King Abdulaziz University, Jeddah, Saudi Arabia between 2002 and 2011. The OPGs and dental records were reviewed for congenitally missing teeth, supernumerary teeth, impactions, ectopic eruption, transposition, germination, fusion, dilacerations, taurodontism, dens in dent, and any other unusual conditions that can be assessed with OPG. Results. The prevalence of patient that exhibited at least one dental anomaly was 396 (45.1%) patients. The prevalence of congenitally missing teeth was 226 (25.7%), impacted teeth 186 (21.1%), dilacerated teeth 10 (1.1%), supernumerary teeth 3 (0.3%), odontoma 1 (0.1%), and taurodontism was also 1 case (0.1%) of the total radiographs reviewed. Conclusions. Congenitally missing teeth were found to be the most prevalent anomaly (25.7%), and the second frequent anomaly was impacted teeth (21.1%), whereas root dilacerations, supernumerary teeth, and taurodontism were the least frequent anomalies (1.1%, 0.3% and 0.1%, resp.).

Sudden perinatal death due to rupture of congenital cardiac diverticulum. Pathological findings and medico-legal investigations in malpractice charge.

PubMed

Marchesi, Matteo; Boracchi, Michele; Gentile, Guendalina; Maghin, Francesca; Zoja, Riccardo

2017-09-01

Congenital diverticula of the left ventricle, very rare malformations, are determined by an abnormal embryonic development of the ventricular wall and can be isolated or associated to other cardiac anomalies. In most of the cases, these pathologies are not symptomatic and in some patients can be associated to ventricular arrhythmia, cardiac rupture with tamponade and sudden death. Authors are presenting the case of a sudden death in an 8-weeks-old newborn due to rupture of a cardiac congenital diverticulum of the left ventricle, discovered only at the moment of the autopsic examination. The parents of the victim pressed charges against the medical staff that was appointed to the cares, blaming them with malpractice. The missed diagnosis of a cardiac congenital diverticulum of the left ventricle, a rare pathology, reflects the trickiness of the medical management that can lead to medico-legal controversies and, even though such rare conditions must be always taken into consideration when investigating possible dysfunction causing the death, diagnostic difficulties, in the case in exam, justify the missed diagnosis intra-vitam of cardiac ventricular diverticulum. Copyright © 2017 Elsevier B.V. All rights reserved.

Primary prevention of neural-tube defects and some other congenital abnormalities by folic acid and multivitamins: history, missed opportunity and tasks

PubMed Central

Bártfai, Zoltán; Bánhidy, Ferenc

2011-01-01

The history of intervention trials of periconception folic acid with multivitamin and folic acid supplementation in women has shown a recent breakthrough in the primary prevention of structural birth defects, namely neural-tube defects and some other congenital abnormalities. Recently, some studies have demonstrated the efficacy of this new method in reducing congenital abnormalities with specific origin; for example, in the offspring of diabetic and epileptic mothers, and in pregnancy with high fever. The benefits and drawbacks of four possible uses of periconception folate/folic acid and multivitamin supplementation are discussed: we believe there has been a missed opportunity to implement this preventive approach in medical practice. The four methods are as follows: (i) dietary intake of folate and other vitamins, (ii) periconception folic acid/multivitamin supplementation, (iii) food fortification with folic acid, and (iv) the combination of oral contraceptives with 6S-5-methytetrahydrofolate (‘folate’). PMID:25083211

Multiple tooth anomalies in a nonsyndromic patient with class II division 2 malocclusions: A case report and a literature review.

PubMed

Isman, E; Isman, O; Aktan, A M; Ciftci, E; Topcuoglu, T

2015-01-01

Reports in the literature about the craniofacial characteristics of patients with class II division 2 malocclusions show a lot of different patterns accompanied by palatally displaced upper incisors, congenital missing teeth, polydiastema, fusion, germination, tooth impaction, peg-shaped lateral incisors, persistent teeth, hypodontia, persistent deciduous teeth, transpositions, and supernumerary teeth. The following case report focuses on the description of the clinical characteristics observed on a patient with a very unusual conjunction of dental and skeletal anomalies mentioned above, as well as a literature review on the related issues. Extra-intra-oral examinations, radiographic evaluations, orthodontic consultation, and reviewing the literature concluded that this nonsyndromic patient that refused to receive all dental treatment approaches is special with its uniqueness.

Congenital Anorectal Malformation Severity Does Not Predict Severity of Congenital Heart Defects.

PubMed

Jonker, Jara E; Liem, Eryn T; Elzenga, Nynke J; Molenbuur, Bouwe; Trzpis, Monika; Broens, Paul M A

2016-12-01

To determine the prevalence of congenital heart defects (CHDs) in patients with mild or severe congenital anorectal malformations (CARMs), and whether all patients with CARM need pediatric cardiology screening. We included 129 patients with CARM born between 2004 and 2013, and referred to University Medical Center Groningen. Recto-perineal and recto-vestibular fistulas were classified as mild CARMs, all others as severe. Significant patent foramen ovale, secundum atrial septal defect, and small ventricular septum defect were classified as minor CHDs, all others as major. Of 129 patients with CARM, 67% had mild CARM, 33% severe CARM, and 17% were additionally diagnosed with CHD. CHDs were distributed equally in patients with mild or severe CARMs. Patients with multiple congenital abnormalities were more frequently diagnosed with CHD (n = 16, 36%) than patients without multiple congenital malformations (n = 5, 9%, P = .001). Patients with CARM diagnosed with CHD using pediatric cardiac echo screening were younger than 3 months of age at diagnosis. Earlier general pediatric examinations missed 7 (50%) children with mild and 4 (50%) with severe CHDs. The severity of CARM could predict neither prevalence nor severity of CHD. More than one-half of CHDs were missed during the first physical examination. No new CHDs were found in patients older than 3 months of age at the time CARMs were diagnosed. We recommend screening all patients with CARM younger than 3 months of age for CHD at the time CARM is diagnosed. Preoperative echocardiography should be the rule in children younger than 3 months of age and with multiple congenital anomalies. Copyright © 2016 Elsevier Inc. All rights reserved.

Language acquisition after cochlear implantation of congenitally deaf children: Effect of age at implantation

NASA Astrophysics Data System (ADS)

Svirsky, Mario; Holt, Rachael

2005-04-01

Evidence shows that early implantation of congenitally deaf children is beneficial. However, infants as young as 6 months of age have started to receive cochlear implants (CIs) in the USA. Such early implantation may be associated with higher risks, including anesthetic risk as well as the increased possibility of a false positive in the diagnosis of profound deafness. On the other hand, delaying implantation may be associated with the risk of missing windows of opportunity or sensitive periods for the development of communication skills. In this study, speech perception and language skills in children who received CIs in the first, second, third, or fourth year of life were compared. Participants were tested at regular 6-month intervals after implantation. The effects of several potential confounds were considered. In general, children implanted earlier outperformed those implanted later, with one exception: infants implanted at 6-12 months showed similar outcomes to children implanted at 12-24 months, at least through 2 to 2-1/2 years of age. This preliminary result may be associated with the difficulty of choosing appropriate stimulation parameters for infants, and its potential influence on the quality of the stimulation patterns delivered by the CI.

Maternal and congenital syphilis in selected Latin America and Caribbean countries: a multi-country analysis using data from the Perinatal Information System.

PubMed

Serruya, Suzanne J; Duran, Pablo; Martinez, Gerardo; Romero, Mario; Caffe, Sonja; Alonso, Monica; Silveira, Mariangela F

2015-04-01

Background Maternal syphilis has an important impact on reproductive health. In 2010, World Health Organization (WHO)/Pan American Health Organization (PAHO) member countries approved the Strategy and Plan of Action for Elimination of Mother-to-Child Transmission of HIV and Congenital Syphilis in the Americas by 2015. This paper aims to describe epidemiological and programmatic characteristics related to maternal and congenital syphilis in selected countries of Latin America and Caribbean for the period 2010-12. The report is based on a multi-country, quantitative and qualitative analysis from data collected from several sources, representing a compilation of country reports from nine countries as part of the 2012 mid-term evaluation of the Strategy. Data was collected based on standardised procedures at country level. Results are variable among countries. All countries have a strategic national plan to eliminate congenital syphilis, with some distinct characteristics for each country. Protocols and guidelines for the management and treatment of maternal and congenital syphilis in all countries were updated between 2011 and 2013. A high rate of missing information for all countries for some indicators was noticed. The main limitation of the analyses is the huge amount of missing data. Countries must continue to be supported to build capacity for collecting high-quality data on intervention coverage and inequities, and to use it as a basis for decisions about how best to reach women and children with interventions. A high level political commitment is necessary to put into practice the Regional Initiative to Eliminate Congenital Syphilis, with the support of Health Ministries.

Application of strict criteria in adrenal venous sampling increases the proportion of missed patients with unilateral disease who benefit from surgery for primary aldosteronism.

PubMed

Kline, Gregory; Leung, Alexander; So, Benny; Chin, Alex; Harvey, Adrian; Pasieka, Janice L

2018-06-01

Adrenal vein sampling (AVS) is intended to confirm unilateral forms of primary aldosteronism, which are amenable to surgical cure. Excessively strict AVS criteria to define lateralization may result in many patients incorrectly categorized as bilateral primary aldosteronism and opportunity for surgical cure missed. Retrospective review of an AVS-primary aldosteronism database in which surgical cases are verified by standardized outcomes. Having used 'less strict' AVS criteria for lateralization, we examined the distribution of AVS lateralization indices in our confirmed unilateral primary aldosteronism cases both with and without cosyntropin stimulation. The proportion of proven unilateral cases that would have been missed with stricter AVS interpretation criteria was calculated. Particular focus was given to the proportion of missed cases according to use of international guidelines. False-positive lateralization with 'less strict' interpretation was also calculated. Of 80 surgical primary aldosteronism cases, 10-23% would have been missed with AVS lateralization indices of 3 : 1 to 5 : 1, with or without cosyntropin. If strict selectivity indices (for confirmation of catheterization) were combined with strict lateralization indices, up to 70% of unilateral primary aldosteronism cases could have been missed. Use of Endocrine Society AVS guidelines would have missed 21-43% of proven unilateral cases. 'Less strict' AVS interpretation yielded one case (1.2%) of false lateralization. Excessively strict AVS interpretation criteria will result in a high rate of missed unilateral primary aldosteronism with subsequent loss of opportunity for intervention. Use of more lenient lateralization criteria will improve the detection rate of unilateral primary aldosteronism with very low false-positive rate.

Prevalence of dental anomalies in Indian population.

PubMed

Patil, Santosh; Doni, Bharati; Kaswan, Sumita; Rahman, Farzan

2013-10-01

Developmental anomalies of the dentition are not infrequently observed by the dental practitioner. The aim of the present study was to determine the prevalence of dental anomalies in the Indian population. A retrospective study of 4133 panoramic radiographs of patients, who attended the Department of Oral Medicine and Radiology, Jodhpur Dental College General Hospital between September 2008 to December 2012 was done. The ages of the patients ranged from 13 to 38 years with a mean age of 21.8 years. The orthopantomographs (OPGs) and dental records were examined for any unusual finding such as congenitally missing teeth, impactions, ectopic eruption, supernumerary teeth, odontoma, dilacerations, taurodontism, dens in dente, germination and fusion, among others. 1519 (36.7%) patients had at least one dental anomaly. The congenitally missing teeth 673 (16.3%) had the highest prevalence, followed by impacted teeth 641 (15.5%), supernumerary teeth 51 (1.2%) and microdontia 41 (1.0%). Other anomalies were found at lower prevalence ranging from transposition 7 (0.1%) to ectopic eruption 30 (0.7%). The most prevalent anomaly in the Indian population was congenitally missing teeth (16.3%), and the second frequent anomaly was impacted teeth (15.5%), whereas, macrodontia, odontoma and transposition were the least frequent anomalies, with a prevalence of 0.2%, 0.2% and 0.1% respectively. While the overall prevalence of these anomalies may be low, the early diagnosis is imperative for the patient management and treatment planning. Key words:Dental anomaly, prevalence, panoramic radiography.

Congenitally Missing Maxillary Lateral Incisors: Update on the Functional and Esthetic Parameters of Patients Treated with Implants or Space Closure and Teeth Recontouring

PubMed Central

Pini, Núbia Inocencya Pavesi; Marchi, Luciana Manzotti De; Pascotto, Renata Corrêa

2015-01-01

Maxillary lateral incisor agenesis (MLIA) is a condition that affects both dental esthetics and function in young patients, and represents an important challenge for clinicians. Although several treatment options are available, the mesial repositioning of the canines followed by teeth recontouring into lateral incisors; or space opening/maintenance followed by implant placement have recently emerged as two important treatment approaches. In this article, the current and latest literature has been reviewed in order to summarize the functional and esthetic outcomes obtained with these two forms of treatment of MLIA patients in recent years. Indications, clinical limitations and the most important parameters to achieve the best possible results with each treatment modality are also discussed. Within the limitations of this review, it is not possible to assert at this point in time that one treatment approach is more advantageous than the other. Long-term followup studies comparing the existing treatment options are still lacking in the literature, and they are necessary to shed some light on the issue. It is possible, however, to state that adequate multidisciplinary diagnosis and planning are imperative to define the treatment option that will provide the best individual results for patients with MLIA. PMID:25646137

Maxillary hypoplasia in the cleft patient: contribution of orthodontic dental space closure to orthognathic surgery.

PubMed

Lee, Justine C; Slack, Ginger C; Walker, Ryann; Graves, Lindsay; Yen, Sandra; Woo, Jessica; Ambaram, Rishal; Martz, Martin G; Kawamoto, Henry K; Bradley, James P

2014-02-01

Cleft lip and palate surgery in the developing child is known to be associated with maxillary hypoplasia. However, the effects of nonsurgical manipulations on maxillary growth have not been well investigated. The authors present the contribution of orthodontic dental space closure with canine substitution to maxillary hypoplasia and the need for orthognathic surgery. Cleft lip/palate and cleft palate patients older than 15 years of age were reviewed for dental anomalies, orthodontic canine substitution, and Le Fort I advancement. Skeletal relationships of the maxilla to the skull base (SNA), mandible (ANB), and facial height were determined on lateral cephalograms. Logistic regression analyses were performed to estimate odds ratios. Ninety-five patients were reviewed (mean age, 18.1 years). In 65 patients with congenitally missing teeth, 55 percent with patent dental spaces required Le Fort I advancement. In contrast, 89 percent who underwent canine substitution required Le Fort I advancement (p = 0.004). Canine substitution is associated with a statistically significant increase in maxillary retrognathia when compared with dental space preservation on lateral cephalograms (mean SNA, 75.2 and 79.0, respectively; p = 0.006). Adjusting for missing dentition, logistic regression analyses demonstrated that canine substitution is an independent predictor for orthognathic surgery (OR, 6.47) and maxillary retrusion defined by SNA < 78 (OR, 8.100). The coordination of orthodontia and surgery is essential to cleft care. The authors report a strong association between orthodontic cleft closure using canine substitution with maxillary hypoplasia and subsequent Le Fort I advancement, and suggest systematic criteria for management of cleft-related dental agenesis. Therapeutic, III.

Maxillary Hypoplasia With Congenital Oligodontia Treated by Maxillary Distraction Osteogenesis.

PubMed

Mishima, Sayaka; Yamaguchi, Takako; Watanabe, Takuma; Komatani, Toru; Nakao, Kazumasa; Takahashi, Katsu; Bessho, Kazuhisa

2018-02-27

It is known that congenitally missing teeth can often cause differences in craniofacial morphology; however, there are few reported cases of orthognathic surgical treatment for these patients. Herein, the authors report a rare case of maxillary hypoplasia with congenital oligodontia treated by maxillary distraction osteogenesis with internal device. A 17-year-old male presenting with multiple tooth agenesis and maxillary recession was referred to our hospital for orthognathic surgical treatment. Preoperative simulation surgery was performed using Full-Color 3-dimensional salt model. After surgery, improvement in maxillary recession and occlusal stability was observed. This report demonstrates the advantages of the method used herein, which includes reduction in operating time with increase in the safety of the procedure.

Late diagnosis of congenital toxoplasmosis based on serological follow-up: A case report.

PubMed

Dard, Céline; Chemla, Cathy; Fricker-Hidalgo, Hélène; Brenier-Pinchart, Marie-Pierre; Baret, Marie; Mzabi, Alexandre; Villena, Isabelle; Pelloux, Hervé

2017-04-01

Toxoplasma gondii is a protozoan parasite infecting up to one third of the world's population. T. gondii infection is usually benign in immunocompetent patients but can be life-threatening when congenitally transmitted. Congenital toxoplasmosis presentation ranges from severe central nervous system and ocular features, to a well appearing newborn with onset of complications late in childhood. The diagnosis of subclinical form remains important since early treatment reduces later complications such as chorioretinitis. We report an atypical case of congenital toxoplasmosis with a delayed diagnosis, based on Toxoplasma-specific serological follow-up. The infant was born to a mother who became infected during pregnancy, thus inducing infant biological and clinical follow-up. Neither biological nor clinical arguments favored a diagnosis of congenital toxoplasmosis until ten months of life. Congenital toxoplasmosis was then suspected because of an unusual increase of specific IgG levels. Diagnosis was confirmed by detection of newly synthesized newborn Ig isotypes using complementary comparative mother-to-child immunological profile techniques and specific treatment therefore administered. This report highlights the importance to follow up newborns at risk of congenital toxoplasmosis with specific and newborn-appropriate techniques until Toxoplasma-IgG titers are completely negative. This allows not only the exclusion of congenital toxoplasmosis when serology becomes negative, but also the diagnosis and treatment of congenital toxoplasmosis when infection is detected later in development. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Long-term outcomes of a transmastoid lateral semicircular canal approach to congenital CSF otorrhea in children associated with recurrent meningitis and severe inner ear malformation.

PubMed

Wang, Jie; Li, Yongxin; Chen, Shubin; Hao, Xinping

2016-08-01

To investigate the long-term effectiveness of transmastoid lateral semicircular canal approach (TMLSCCA) to repair cerebrospinal fluid (CSF) leakage in children associated with recurrent meningitis and severe congenital inner malformation. A retrospective study was conducted in a university hospital, academic medical center. Fifteen children with recurrent meningitis, secondary to severe congenital inner ear malformation, were included in the study. All of them had CSF associated otorrhea and treated using TLSCCA to repair CSF otorrhea by packing the vestibule with muscle and fascia. Observation of the status of postoperative CSF leakage, recurrence of meningitis and complication were conducted. None of the cases had recurrent meningitis and CSF leakage after their TLSCCA procedure in the follow-up period of 1-8.5 years. One case presented with transient facial nerve paralysis and completely recovered 3 months later. TLSCCA for CSF otorrhea in children with recurrent meningitis secondary to congenital inner ear malformation is an alternative approach that offers some advantages. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Evaluating the diagnostic gap: statewide incidence of undiagnosed critical congenital heart disease before newborn screening with pulse oximetry.

PubMed

Mouledoux, Jessica H; Walsh, William F

2013-10-01

Screening for critical congenital heart disease (CCHD) using pulse oximetry has been endorsed by the American Academy of Pediatrics and the American Heart Association. We sought to determine the incidence of undetected CCHD in Tennessee and the diagnostic gap of CCHD in Middle Tennessee prior to screening implementation. The Tennessee Initiative for Perinatal Quality Care (TIPQC) Undetected CCHD Registry is a quality improvement initiative established to identify neonates discharged from the nursery with undetected CCHD. The TIPQC database was queried and a simultaneous review of all neonates with CCHD in the Middle Tennessee region was performed to define the incidence and identify the pre-screen diagnostic gap of undetected CCHD at the time of hospital discharge. In 2011, of 79,462 live births in Tennessee, 12 newborns had undiagnosed CCHD (incidence 15 per 100,000; 95 % CI 9-26 per 100,000). Nine of 12 (75 %) had coarctation of the aorta (CoA). There were no deaths due to undiagnosed CCHD. In the Middle Tennessee region, 6 of 45 neonates with CCHD were missed, for a diagnostic gap of 13 % (95 % CI 6-26 %). Prior to implementation of CCHD screening using pulse oximetry, 12 Tennessee neonates with CCHD were missed by prenatal ultrasound and newborn examination. CoA was the most common lesion missed and is also the CCHD most likely to be missed despite addition of screening using pulse oximetry. Continued evaluation of the diagnostic gap with particular attention to missed diagnoses of CoA should accompany institution of CCHD screening programs.

Congenital blindness improves semantic and episodic memory.

PubMed

Pasqualotto, Achille; Lam, Jade S Y; Proulx, Michael J

2013-05-01

Previous studies reported that congenitally blind people possess superior verb-generation skills. Here we tested the impact of blindness on capacity and the fidelity of semantic memory by using a false memory paradigm. In the Deese-Roediger-McDermott paradigm, participants study lists of words that are all semantically related to a lure that is not presented. Subsequently, participants frequently recall the missing lure. We found that congenitally blind participants have enhanced memory performance for recalling the presented words and reduced false memories for the lure. The dissociation of memory capacity and fidelity provides further evidence for enhanced verbal ability in the blind, supported by their broader structural and functional brain reorganisation. Copyright © 2013 Elsevier B.V. All rights reserved.

[Isolated left ventricular non-compaction associated with Ebstein's anomaly. Multimodality non-invasive imaging for the assessment of congenital heart disease].

PubMed

Renilla, Alfredo; Santamarta, Elena; Corros, Cecilia; Martín, María; Barreiro, Manuel; de la Hera, Jesús

2013-01-01

To establish the etiology of heart failure in patients with congenital heart disease can be challenging. Multiple concomitant anomalies that can be missed after an initial diagnosis could be seen in these patients. In patients with congenital heart disease, a more accurate evaluation of cardiac morphology and left ventricular systolic function could be evaluated by recent non-invasive cardiac imaging techniques. We present a rare case where multimodal cardiac imaging was useful to establish the final diagnosis of left ventricular non-compaction associated with Ebstein's anomaly. Copyright © 2012 Instituto Nacional de Cardiología Ignacio Chávez. Published by Masson Doyma México S.A. All rights reserved.

Challenging Cognitive Control by Mirrored Stimuli in Working Memory Matching

PubMed Central

Wirth, Maria; Gaschler, Robert

2017-01-01

Cognitive conflict has often been investigated by placing automatic processing originating from learned associations in competition with instructed task demands. Here we explore whether mirror generalization as a congenital mechanism can be employed to create cognitive conflict. Past research suggests that the visual system automatically generates an invariant representation of visual objects and their mirrored counterparts (i.e., mirror generalization), and especially so for lateral reversals (e.g., a cup seen from the left side vs. right side). Prior work suggests that mirror generalization can be reduced or even overcome by learning (i.e., for those visual objects for which it is not appropriate, such as letters d and b). We, therefore, minimized prior practice on resolving conflicts involving mirror generalization by using kanji stimuli as non-verbal and unfamiliar material. In a 1-back task, participants had to check a stream of kanji stimuli for identical repetitions and avoid miss-categorizing mirror reversed stimuli as exact repetitions. Consistent with previous work, lateral reversals led to profound slowing of reaction times and lower accuracy in Experiment 1. Yet, different from previous reports suggesting that lateral reversals lead to stronger conflict, similar slowing for vertical and horizontal mirror transformations was observed in Experiment 2. Taken together, the results suggest that transformations of visual stimuli can be employed to challenge cognitive control in the 1-back task. PMID:28503160

The characteristics and distribution of dental anomalies in patients with cleft.

PubMed

Wu, Ting-Ting; Chen, Philip K T; Lo, Lun-Jou; Cheng, Min-Chi; Ko, Ellen Wen-Ching

2011-01-01

Dental anomalies associated with different severities of cleft lip and palate have been rarely reported. This retrospective study investigates the characteristics of dental anomalies associated with different types of cleft, and compares the dental anomaly traits based on sex and severity of cleft. Cleft patients born in 1995 with qualified diagnostic records from 7 to 11 years were included for evaluation. Records were retrieved from database of Chang Gung Craniofacial Center, including panoramic radiographs and intraoral photographs. In total, 196 patients with complete records were included in the evaluation. This study compares the dental anomalies associated with each type of cleft. The frequency of dental anomalies in the maxillary incisor area in the cleft palate (CP) group (20%) was significantly lower than that in other groups. The frequency of missing maxillary lateral incisors (MLIs) increased as the cleft severity increased. Supernumerary teeth and missing lower incisors exhibited the opposite trend. No sexual dimorphism appeared in terms of the frequencies of peg laterals and missing MLIs. The distribution patterns of missing MLIs and peg laterals in males, but not in females, were consistent for the three types of unilateral clefts. Regarding the characteristics of dental anomalies among the three unilateral clefts, missing MLIs, supernumerary teeth, and missing lower incisors were found to be related to cleft severity. The maxillary lateral incisor was the most affected tooth in the cleft area. The frequency of missing MLIs and peg laterals was not sexual dimorphic, but the distribution pattern was different between the sexes.

Localization of congenital tegmen tympani defects.

PubMed

Tóth, Miklós; Helling, Kai; Baksa, Gábor; Mann, Wolf

2007-12-01

This study sets out to demonstrate the normal developmental steps of the tegmen tympani and thus explains the typical localization of congenital tegmental defects. For this study, 79 macerated and formalin-fixed human temporal bones from 14th fetal week to adults were observed and prepared. Macroscopic and microscopic examination of the prenatal and postnatal changes of the tegmen tympani during its development. Temporal bones from 14th fetal week to adults underwent descriptive anatomic studies to understand the normal development of the tegmen tympani and to find a possible cause of its congenital defects. The medial part of the tegmen tympani develops from the otic capsule during chondral ossification, thus forming the tegmental process of the petrous part. The lateral part shows membranous ossification. The tegmental process cases a temporary bony dehiscence lateral to the geniculate ganglion between the 23rd and 25th fetal week. Congenital defects develop near the geniculate ganglion and seem to be due to an incomplete development of tegmental process of otic capsule. Because of that, congenital lesion of the tegmen tympani can be defined as an inner ear defect.

Congenital central hypoventilation syndrome mimicking mitochondrial disease.

PubMed

Rojnueangnit, Kitiwan; Descartes, Maria

2018-03-01

Later-onset congenital central hypoventilation syndrome (LO-CCHS) does not present only breathing problems but can be present as episodic multiple organs involvement. Our unique case demonstrated LO-CCHS should be considered in the differential diagnosis of mitochondrial diseases and having nontypical polysomnography result.

Posterior Open Bite Due to Failure of Maxillary Molar Eruption.

PubMed

Yasumura, Toshihiko; Sueishi, Kenji

2016-01-01

Posterior open bite can cause problems with occlusion. It arises from systemic or local factors such as physical or functional interference, ankylosis, and failure of eruption. Primary failure of eruption (PFE) is a rare condition that is difficult to differentiate from ankylosis and requires complex treatment strategies. Here we report a 12-year-old girl who was referred to our hospital by her dentist for re-evaluation of eruption failure of the left maxillary secondary premolar and first and second molars with congenitally missing maxillary lateral teeth. The maxillary first molar was extracted for a therapeutic diagnosis. The left maxillary secondary premolar and second molar reacted well to subsequent orthodontic treatment. Auto-transplantation of the mandibular premolar to the maxil-lary arch was carried out to achieve optimal overjet, overbite, and occlusion. The active treatment period spanned 4 years and 1 month. Assessment of the patient's medical and dental history, prior trauma, and clinical conditions resulted in a therapeutic diagnosis of PFE. Satisfactory orthodontic treatment results were achieved.

Catastrophic Intramedullary Abscess Caused by a Missed Congenital Dermal Sinus

PubMed Central

Dho, Yun-Sik; Kim, Seung-Ki; Wang, Kyu-Chang

2015-01-01

Congenital dermal sinus (CDS) is a type of occult spinal dysraphism characterized by a midline skin dimple. A 12-month-old girl presented with fever and ascending quadriparesis. She had a midline skin dimple in the upper sacral area that had been discovered in her neonatal period. Imaging studies revealed a holocord intramedullary abscess and CDS. Overlooking CDS or misdiagnosing it as benign sacrococcygeal dimple may lead to catastrophic infection and cause serious neurological deficits. Therefore, further imaging work-up or consultation with a pediatric neurosurgeon is recommended following discovery of any atypical-looking dimples in the midline. PMID:25810867

Ulnar Rotation Osteotomy for Congenital Radial Head Dislocation.

PubMed

Liu, Ruiyu; Miao, Wusheng; Mu, Mingchao; Wu, Ge; Qu, Jining; Wu, Yongtao

2015-09-01

To evaluate an ulnar rotation osteotomy for congenital anterior dislocation of the radial head. Nine patients (5 boys and 4 girls aged 6 to 13 years) with congenital anterior dislocation of the radial head were treated with ulnar rotation osteotomy. Magnetic resonance imaging of the elbow showed the proximal radioulnar joint on the anterior-lateral side of the ulna rather than on the lateral side in patients with congenital anterior dislocation of the radial head. On the basis of this finding, we performed an osteotomy on the ulna and laterally rotated the proximal radioulnar joint achieving radial head reduction and restoring the anatomical relationship between the radial head and the capitellum. Clinical and radiographical evaluation of the elbow was performed before surgery and at postoperative follow-up. All patients were followed for 13 to 45 months after surgery. Elbow radiography showed that the radiocapitellar joint was reduced in all patients at the last follow-up visit and that the carrying angle was decreased relative to that in the preoperative condition. Elbow stability and the range of elbow flexion motion were improved at the last follow-up. We did not observe ulnar osteotomy site nonunion or elbow osteoarthritis in these patients. Furthermore, radial head dislocation did not recur. At early follow-up, ulnar rotation osteotomy was a safe and effective method for the treatment of congenital anterior dislocation of the radial head. Therapeutic IV. Copyright © 2015 American Society for Surgery of the Hand. Published by Elsevier Inc. All rights reserved.

Description and initial evaluation of an educational and psychosocial support model for adults with congenitally malformed hearts.

PubMed

Rönning, Helén; Nielsen, Niels Erik; Swahn, Eva; Strömberg, Anna

2011-05-01

Various programmes for adults with congenitally malformed hearts have been developed, but detailed descriptions of content, rationale and goals are often missing. The aim of this study was to describe and make an initial evaluation of a follow-up model for adults with congenitally malformed hearts, focusing on education and psychosocial support by a multidisciplinary team (EPS). The model is described in steps and evaluated with regards to perceptions of knowledge, anxiety and satisfaction. The EPS model included a policlinic visit to the physician/nurse (medical consultation, computer-based and individual education face-to-face as well as psychosocial support) and a 1-month telephone follow-up. Fifty-five adults (mean age 34, 29 women) with the nine most common forms of congenitally malformed hearts participated in the EPS model as well as the 3-months follow-up. Knowledge about congenital heart malformation had increased in 40% of the participants at the 3-months follow-up. This study describes and evaluates a model that combines a multidisciplinary approach and computer-based education for follow-up of adults with congenitally malformed hearts. The EPS model was found to increase self-estimated knowledge, but further evaluations need to be conducted to prove patient-centred outcomes over time. The model is now ready to be implemented in adults with congenitally malformed hearts. Copyright © 2010 Elsevier Ireland Ltd. All rights reserved.

Cardiac manifestations of congenital LMNA-related muscular dystrophy in children: three case reports and recommendations for care.

PubMed

Heller, Felice; Dabaj, Ivana; Mah, Jean K; Bergounioux, Jean; Essid, Aben; Bönnemann, Carsten G; Rutkowski, Anne; Bonne, Gisèle; Quijano-Roy, Susana; Wahbi, Karim

2017-08-01

Skeletal and cardiac muscle laminopathies, caused by mutations in the lamin A/C gene, have a clinical spectrum from congenital LMNA-related muscular dystrophy to later-onset Emery-Dreifuss muscular dystrophy, limb girdle muscular dystrophy, and dilated cardiomyopathy. Although cardiac involvement is observed at all ages, it has only been well described in adults. We present the evolution of cardiac disease in three children with congenital muscular dystrophy presentation of LMNA-related muscular dystrophy. In this series, atrial arrhythmia was the presenting cardiac finding in all three patients. Heart failure developed up to 5 years later. Symptoms of right heart failure, including diarrhoea and peripheral oedema, preceded a rapid decline in left ventricular ejection fraction. Recommendations for cardiac surveillance and management in these patients are made.

A proposed radiographic classification scheme for congenital thoracic vertebral malformations in brachycephalic "screw-tailed" dog breeds.

PubMed

Gutierrez-Quintana, Rodrigo; Guevar, Julien; Stalin, Catherine; Faller, Kiterie; Yeamans, Carmen; Penderis, Jacques

2014-01-01

Congenital vertebral malformations are common in brachycephalic "screw-tailed" dog breeds such as French bulldogs, English bulldogs, Boston terriers, and pugs. The aim of this retrospective study was to determine whether a radiographic classification scheme developed for use in humans would be feasible for use in these dog breeds. Inclusion criteria were hospital admission between September 2009 and April 2013, neurologic examination findings available, diagnostic quality lateral and ventro-dorsal digital radiographs of the thoracic vertebral column, and at least one congenital vertebral malformation. Radiographs were retrieved and interpreted by two observers who were unaware of neurologic status. Vertebral malformations were classified based on a classification scheme modified from a previous human study and a consensus of both observers. Twenty-eight dogs met inclusion criteria (12 with neurologic deficits, 16 with no neurologic deficits). Congenital vertebral malformations affected 85/362 (23.5%) of thoracic vertebrae. Vertebral body formation defects were the most common (butterfly vertebrae 6.6%, ventral wedge-shaped vertebrae 5.5%, dorsal hemivertebrae 0.8%, and dorso-lateral hemivertebrae 0.5%). No lateral hemivertebrae or lateral wedge-shaped vertebrae were identified. The T7 vertebra was the most commonly affected (11/28 dogs), followed by T8 (8/28 dogs) and T12 (8/28 dogs). The number and type of vertebral malformations differed between groups (P = 0.01). Based on MRI, dorsal, and dorso-lateral hemivertebrae were the cause of spinal cord compression in 5/12 (41.6%) of dogs with neurologic deficits. Findings indicated that a modified human radiographic classification system of vertebral malformations is feasible for use in future studies of brachycephalic "screw-tailed" dogs. © 2014 American College of Veterinary Radiology.

Health risk behaviors in adolescents and emerging adults with congenital heart disease: psychometric properties of the Health Behavior Scale-Congenital Heart Disease.

PubMed

Goossens, Eva; Luyckx, Koen; Mommen, Nele; Gewillig, Marc; Budts, Werner; Zupancic, Nele; Moons, Philip

2013-12-01

To optimize long-term outcomes, patients with congenital heart disease (CHD) should adopt health-promoting behaviors. Studies on health behavior in afflicted patients are scarce and comparability of study results is limited. To enlarge the body of evidence, we have developed the Health Behavior Scale-Congenital Heart Disease (HBS-CHD). We examined the psychometric properties of the HBS-CHD by providing evidence for (a) the content validity; (b) validity based on the relationships with other variables; (c) reliability in terms of stability; and (d) responsiveness. Ten experts rated the relevance of the HBS-CHD items. The item content validity index (I-CVI) and the averaged scale content validity index (S-CVI/Ave); the modified multi-rater Kappa and proportion of missing values for each question were calculated. Relationships with other variables were evaluated using six hypotheses that were tested in 429 adolescents with CHD. Stability of the instrument was assessed using Heise's method; and responsiveness was tested by calculating the Guyatt's Responsiveness Index (GRI). Overall, 86.3% of the items had a good to excellent content validity; the S-CVI/Ave (0.81) and multi-rater Kappa (0.78) were adequate. The average proportion of missing values was low (1.2%). Because five out of six hypotheses were confirmed, evidence for the validity of the HBS-CHD based on relationships with other variables was provided. The stability of the instrument could not be confirmed based on our data. The GRI showed good to excellent capacity of the HBS-CHD to detect clinical changes in the health behavior over time. We found that the HBS-CHD is a valid and responsive questionnaire to assess health behaviors in patients with CHD.

Lateral idiopathic subluxation of the radial head. Case report.

PubMed

Lancaster, S; Horowitz, M

1987-01-01

Idiopathic subluxation of the radial head (ISRH) is a rare entity that is separate from congenital dislocations of the radial head, both symptomatically and radiographically. ISRH causes pain and restriction of rotation. A dome-shaped radial head, a hypertrophied ulna, and a hypoplastic capitellum are not present in ISRH, as they are in a congenital dislocation of the radial head (CDRH). A true lateral ISRH is used as an example to demonstrate these differences. Remodeling of the radial head may preserve motion in the joint surface deformed by growth along abnormal planes of motion.

Simulation of automatic precision departures and missed approaches using the microwave landing system

NASA Technical Reports Server (NTRS)

Feather, J. B.

1987-01-01

Results of simulated precision departures and missed approaches using MLS guidance concepts are presented. The study was conducted under the Terminal Configured Vehicle (TCV) Program, and is an extension of previous work by DAC under the Advanced Transport Operating System (ATOPS) Technology Studies Program. The study model included simulation of an MD-80 aircraft, an autopilot, and a MLS guidance computer that provided lateral and vertical steering commands. Precision departures were evaluated using a noise abatement procedure. Several curved path departures were simulated with MLS noise and under various environmental conditions. Missed approaches were considered for the same runway, where lateral MLS guidance maintained the aircraft along the extended runway centerline. In both the departures and the missed approach cases, pitch autopilot takeoff and go-around modes of operation were used in conjunction with MLS lateral guidance.

Brain structure is changed in congenital anosmia.

PubMed

Frasnelli, Johannes; Fark, Therese; Lehmann, Jacqueline; Gerber, Johannes; Hummel, Thomas

2013-12-01

Olfactory function in healthy people correlates with structural features of both the olfactory bulb and higher order olfactory processing areas, but we do not yet know how congenital anosmia affects these latter structures. In order to examine this question closer, we acquired T1 weighted magnetic resonance images from 17 subjects with congenital anosmia and from 17 age- and sex-matched controls. We compared white and gray matter volumes as well as cortical thickness between both groups. We found subjects with congenital anosmia to exhibit larger gray matter volumes in the left entorhinal and piriform cortices. Further, they had thicker orbitofrontal cortices bilaterally. Their left piriform cortex was also thicker than that of controls. These findings are in contrast to those observed in acquired anosmia, where reduced olfactory function is associated with reduced volumes and thickness. However, they fit well with observations from other sensory systems, e.g., vision, where congenital sensory loss is associated with a thicker primary cortex. This finding has been attributed to reduced or absent synaptic pruning as a result of missing peripheral sensory input. Our findings suggest that similar mechanisms take place in the olfactory system. © 2013.

Critical Congenital Heart Disease Screening by Pulse Oximetry in a Neonatal Intensive Care Unit

PubMed Central

Manja, Veena; Mathew, Bobby; Carrion, Vivien; Lakshminrusimha, Satyan

2014-01-01

Critical congenital heart disease (CCHD) screening is effective in asymptomatic late preterm and term newborn infants with a low false positive rate (0.035%). Objective (1) To compare 2817 NICU discharges before and after implementation of CCHD screening; and (2) to evaluate CCHD screening at < 35 weeks gestation. Methods collection of results of CCHD screening including preductal and postductal SpO2 values. Results During the pre-CCHD screen period, 1247 infants were discharged from the NICU and one case of CCHD was missed. After 3/1/12, 1508 CCHD screens were performed among 1570 discharges and no CCHDs were missed. The preductal and postductal SpO2 values were 98.8±1.4% and 99±1.3% respectively in preterm and 98.9±1.3% and 98.9±1.4% in term infants. Ten infants had false positive screens (10/1508=0.66%). Conclusions Performing universal screening in the NICU is feasible but is associated with a higher false positive rate compared to asymptomatic newborn infants. PMID:25058746

Congenital leukemoid reaction followed by fatal leukemia. A case with Down's syndrome.

PubMed

Lin, H P; Menaka, H; Lim, K H; Yong, H S

1980-10-01

A serial clinical, hematologic, and cytogenetic study was done on a baby with Down's syndrome in whom a myeloid leukemoid reaction developed at birth that spontaneously regressed within a month only to relapse two years later to an acute undifferentiated stem cell leukemia. He died 1 1/2 months after onset. The unresolved controversy of the diagnosis of the congenital leukemia-like state is discussed. The importance of following up such patients with apparent remission of their congenital leukemia-like disorder is emphasized.

Oral findings and dental treatment in a patient with Dandy-Walker syndrome: a case report.

PubMed

Kusumoto, Yasuka; Shinozuka, Osamu

2014-01-01

Dandy-Walker syndrome (DWS) is congenital disease characterized by hypoplasia of the cerebellum, the formation of cysts that communicate with the fourth ventricle of the posterior cranial fossa, and hydrocephalus. In addition to various other complications, cleft lip/palate, facial retrognathia, a high-arched palate, and maldentition occur at an increased frequency in patients with DWS. However, few studies have reported the dental manifestations of DWS. Herein, we report the clinical manifestations, oral findings, and dental management of a DWS patient who was treated under general anesthesia. Poor oral hygiene, gingivitis, and several congenital dental abnormalities (e.g., generalized microdontia, conical tooth, transposition, and congenitally missing teeth) were observed. This report is the first to describe the oral findings and dental treatment of DWS. Our findings emphasize the importance of a multidisciplinary approach in the diagnosis and treatment of DWS. © 2013 Special Care Dentistry Association and Wiley Periodicals, Inc.

Common dental anomalies in cleft lip and palate patients.

PubMed

Haque, Sanjida; Alam, Mohammad Khursheed

2015-01-01

Cleft lip and palate (CLP) is the most common orofacial congenital malformation in live births. CLP can occur individually or in combination with other congenital deformities. Affected patients experience a number of dental, aesthetic, speech, hearing, and psychological complications and have a higher incidence of severe dental conditions. The purpose of this study is to characterise the different types of dental anomalies that are frequently associated with CLP patients based on a literature survey. By literature survey, this study characterises the different types of dental anomalies that are frequently associated with cleft lip and palate patients. Common dental anomalies associated with CLP are supernumerary tooth, congenitally missing tooth, delayed tooth development, morphological anomalies in both deciduous and permanent dentition, delayed eruption of permanent maxillary incisors, microdontia, and abnormal tooth number. The incidence of certain dental anomalies is strongly correlated with Cleft lip and palate, a finding that is consistent with previous studies.

Comparing the Effects of Congenital and Late Visual Impairments on Visuospatial Mental Abilities

ERIC Educational Resources Information Center

Monegato, Maura; Cattaneo, Zaira; Pece, Alfredo; Vecchi, Tomaso

2007-01-01

This study compared participants who were congenitally visually impaired and those who became visually impaired later in life in a spatial memory task. The latter showed less efficient visuospatial processes than did the former. However, these differences were of a quantitative nature only, indicating common cognitive mechanisms that can be…

The accuracy of ultrasound in the diagnosis of congenital abnormalities.

PubMed

Munim, Shama; Nadeem, Salva; Khuwaja, Nadya Ali

2006-01-01

To determine the accuracy of ultrasound in the diagnosis of congenital abnormalities at the Aga Khan University Hospital, Karachi. The data of congenital abnormalities was obtained from the obstetrical database and medical records of all cases complicated by congenital abnormalities, delivering from January 2001 to December 2003 and was reviewed. Antenatal ultrasounds had been performed by operators with different level of experience. In addition this data was retrieved from the termination and Congenital anomaly register. A structured data collection form was used to collect information of different variables of interest. Congenital abnormalities, complicated 2.8% (n=170), of all deliveries, including all cases of termination of pregnancy, stillbirth and live births. Out of the total, 11.6% occurred in women above the age of 35 years. Consanguinity was found in 18.2% cases. Prenatal diagnosis was made in just under half of the cases (48.8%). Central nervous system and renal abnormalities were commonly diagnosed. However, facial defects, heart defects or skeletal defects were more commonly missed. Antenatal ultrasound successfully diagnosed foetal abnormalities in 48.8% of cases, and more than 90% Central Nervous system defects and renal abnormalities. In contrast about a quarter of Cardiac defects and none of the facial defects were detected. Based on these findings we recommend that the Sonologist should incorporate four chamber view of the heart and also look at the face carefully.

Reorganization of the cerebro-cerebellar network of language production in patients with congenital left-hemispheric brain lesions.

PubMed

Lidzba, K; Wilke, M; Staudt, M; Krägeloh-Mann, I; Grodd, W

2008-09-01

Patients with congenital lesions of the left cerebral hemisphere may reorganize language functions into the right hemisphere. In these patients, language production is represented homotopically to the left-hemispheric language areas. We studied cerebellar activation in five patients with congenital lesions of the left cerebral hemisphere to assess if the language network is reorganized completely in these patients, i.e. including also cerebellar language functions. As compared to a group of controls matched for age, sex, and verbal IQ, the patients recruited an area not in the right but in the left cerebellar hemisphere. The extent of laterality of the cerebellar activation correlated significantly with the laterality of the frontal activation. We suggest that the developing brain reacts to early focal lesions in the left hemisphere with a mirror-image organization of the entire cerebro-cerebellar network engaged in speech production.

Diagnostic and Therapeutic Knowledge and Practices in the Management of Congenital Syphilis by Pediatricians in Public Maternity Hospitals in Brazil.

PubMed

Dos Santos, Raquel Rodrigues; Niquini, Roberta Pereira; Bastos, Francisco Inácio; Domingues, Rosa Maria Soares Madeira

2017-01-01

The study aimed to assess conformity with Brazil's standard protocol for diagnostic and therapeutic practices in the management of congenital syphilis by pediatricians in public maternity hospitals. A cross-sectional study was conducted in 2015 with 41 pediatricians working in all the public maternity hospitals in Teresina, the capital of Piauí State, Northeast Brazil, through self-completed questionnaires. The study assessed the conformity of knowledge and practices according to the Brazilian Ministry of Health protocols. The study has made evident low access to training courses (54%) and insufficient knowledge of the case definition of congenital syphilis (42%) and rapid tests for syphilis (39%). Flaws were observed in the diagnostic workup and treatment of newborns. Requesting VDRL (88%) and correct treatment of neurosyphilis (88%) were the practices that showed the highest conformity with standard protocols. Low conformity with protocols leads to missed opportunities for identifying and adequately treating congenital syphilis. Based on the barriers identified in the study, better access to diagnostic and treatment protocols, improved recording on prenatal cards and hospital patient charts, availability of tests and medicines, and educational work with pregnant women should be urgently implemented, aiming to reverse the currently inadequate management of congenital syphilis and to curb its spread.

No auditory experience, no tinnitus: Lessons from subjects with congenital- and acquired single-sided deafness.

PubMed

Lee, Sang-Yeon; Nam, Dong Woo; Koo, Ja-Won; De Ridder, Dirk; Vanneste, Sven; Song, Jae-Jin

2017-10-01

Recent studies have adopted the Bayesian brain model to explain the generation of tinnitus in subjects with auditory deafferentation. That is, as the human brain works in a Bayesian manner to reduce environmental uncertainty, missing auditory information due to hearing loss may cause auditory phantom percepts, i.e., tinnitus. This type of deafferentation-induced auditory phantom percept should be preceded by auditory experience because the fill-in phenomenon, namely tinnitus, is based upon auditory prediction and the resultant prediction error. For example, a recent animal study observed the absence of tinnitus in cats with congenital single-sided deafness (SSD; Eggermont and Kral, Hear Res 2016). However, no human studies have investigated the presence and characteristics of tinnitus in subjects with congenital SSD. Thus, the present study sought to reveal differences in the generation of tinnitus between subjects with congenital SSD and those with acquired SSD to evaluate the replicability of previous animal studies. This study enrolled 20 subjects with congenital SSD and 44 subjects with acquired SSD and examined the presence and characteristics of tinnitus in the groups. None of the 20 subjects with congenital SSD perceived tinnitus on the affected side, whereas 30 of 44 subjects with acquired SSD experienced tinnitus on the affected side. Additionally, there were significant positive correlations between tinnitus characteristics and the audiometric characteristics of the SSD. In accordance with the findings of the recent animal study, tinnitus was absent in subjects with congenital SSD, but relatively frequent in subjects with acquired SSD, which suggests that the development of tinnitus should be preceded by auditory experience. In other words, subjects with profound congenital peripheral deafferentation do not develop auditory phantom percepts because no auditory predictions are available from the Bayesian brain. Copyright © 2017 Elsevier B.V. All rights reserved.

Investigation of tooth transposition in a non-syndromic Turkish anatolian population: characteristic features and associated dental anomalies.

PubMed

Celikoglu, Mevlut; Miloglu, Ozkan; Oztek, Ozkan

2010-09-01

The aims of this study were to investigate the frequency and characteristics of dental transpositions and to evaluate associated dental anomalies in a large sample of Turkish Anatolian population. A retrospective study was performed using panoramic radiographs of 6983 patients (4092 females and 2891 males) ranging in age from 12 to 27 subjected to Faculty of Dentistry at the University of Ataturk (Erzurum, Turkey) between 2005 and 2008. For each patient with tooth transposition we recorded the demographic variables (including age, sex), history of trauma, type, classification, and location of tooth transpositions, and associated dental anomalies. The Pearson chi-squared test was used to determine potential differences in the distribution of tooth transposition when stratified by gender. Tooth transposition was detected in 19 subjects (0.27%), with a 2.2:1 female male ratio (P=0.38). The most commonly observed transposition was maxillary canine-lateral incisor (60%). The frequencies of complete and incomplete transpositions were equal (10/10) and it was more common in the left side than in the right side (11/9). Of the 19 subjects, 10.5% had a peg shaped lateral incisor, 21.1% one congenitally missing tooth excluding third molar. Supernumerary tooth, impacted teeth excluding third molars, transmigrated tooth, and dilacerations were also observed. The frequency of tooth transposition was 0.27% in a Turkish Anatolian population and maxillary canine-lateral incisor was the most frequently observed transposition. Retained primary teeth were the most frequently observed dental anomaly in all types of tooth transposition.

A Sensitive Period for Language in the Visual Cortex: Distinct Patterns of Plasticity in Congenitally versus Late Blind Adults

ERIC Educational Resources Information Center

Bedny, Marina; Pascual-Leone, Alvaro; Dravida, Swethasri; Saxe, Rebecca

2012-01-01

Recent evidence suggests that blindness enables visual circuits to contribute to language processing. We examined whether this dramatic functional plasticity has a sensitive period. BOLD fMRI signal was measured in congenitally blind, late blind (blindness onset 9-years-old or later) and sighted participants while they performed a sentence…

Percutaneous Sclerotherapy of Congenital Slow-Flow Vascular Malformations of the Orbit

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

Chiramel, George Koshy, E-mail: gkchiramel@gmail.com; Keshava, Shyamkumar Nidugala, E-mail: aparna-shyam@yahoo.com; Moses, Vinu, E-mail: vinu@cmcvellore.ac.in

PurposeThis manuscript describes the clinical features, imaging findings, treatment details, and short-term outcomes of a series of congenital slow-flow vascular malformations.MethodsThis was a prospective study of congenital slow-flow vascular malformations involving the orbital region treated at a single institution with percutaneous sclerotherapy.ResultsTen patients presented during the study period, comprising eight venous malformations, one lymphatic malformation, and one veno-lymphatic malformation. Nine patients underwent percutaneous sclerotherapy under digital subtraction angiography guidance, of which three developed marked rise in intraocular pressure requiring lateral canthotomy. The treatments were performed in the presence of an ophthalmologist who measured the intraorbital pressure during and after the procedure. Onmore » follow-up, some of the patients required repeat sessions of sclerotherapy. All patients had improvement of symptoms on follow up after the procedure.ConclusionCongenital slow-flow vascular malformations of the orbital region are rare lesions that should be treated using a multidisciplinary approach. Monitoring of the intraorbital pressure is required both during and after the procedure to decide about the need for lateral canthotomy to reduce the transiently increased intraorbital pressure.« less

The Society of Thoracic Surgeons Congenital Heart Surgery Database Mortality Risk Model: Part 1—Statistical Methodology

PubMed Central

O’Brien, Sean M.; Jacobs, Jeffrey P.; Pasquali, Sara K.; Gaynor, J. William; Karamlou, Tara; Welke, Karl F.; Filardo, Giovanni; Han, Jane M.; Kim, Sunghee; Shahian, David M.; Jacobs, Marshall L.

2016-01-01

Background This study’s objective was to develop a risk model incorporating procedure type and patient factors to be used for case-mix adjustment in the analysis of hospital-specific operative mortality rates after congenital cardiac operations. Methods Included were patients of all ages undergoing cardiac operations, with or without cardiopulmonary bypass, at centers participating in The Society of Thoracic Surgeons Congenital Heart Surgery Database during January 1, 2010, to December 31, 2013. Excluded were isolated patent ductus arteriosus closures in patients weighing less than or equal to 2.5 kg, centers with more than 10% missing data, and patients with missing data for key variables. Data from the first 3.5 years were used for model development, and data from the last 0.5 year were used for assessing model discrimination and calibration. Potential risk factors were proposed based on expert consensus and selected after empirically comparing a variety of modeling options. Results The study cohort included 52,224 patients from 86 centers with 1,931 deaths (3.7%). Covariates included in the model were primary procedure, age, weight, and 11 additional patient factors reflecting acuity status and comorbidities. The C statistic in the validation sample was 0.858. Plots of observed-vs-expected mortality rates revealed good calibration overall and within subgroups, except for a slight overestimation of risk in the highest decile of predicted risk. Removing patient preoperative factors from the model reduced the C statistic to 0.831 and affected the performance classification for 12 of 86 hospitals. Conclusions The risk model is well suited to adjust for case mix in the analysis and reporting of hospital-specific mortality for congenital heart operations. Inclusion of patient factors added useful discriminatory power and reduced bias in the calculation of hospital-specific mortality metrics. PMID:26245502

Congenital syphilis: early- and late-stage findings of rhagades and dental anomalies.

PubMed

Khetarpal, Shilpi; Kempf, Ellen; Mostow, Eliot

2011-01-01

Congenital syphilis occurs via vertical transmission when Treponema pallidum crosses the placenta after the 16th week of gestation. Manifestations of congenital syphilis vary from asymptomatic infection to stillbirth. We present a case of congenital syphilis in a Vietnamese orphan who presented with rhagades, hearing deficit, and abnormal dentition after adoption in the United States. He demonstrated both early- and late-stage findings of congenital syphilis. He is presumed to be 5 years old, and it is uncertain if he received treatment. Upon arrival to the United States, his rapid plasma reagin test was negative, but his fluorescent treponemal antibody-absorption test was positive, so no further treatment was recommended. It is possible that other late congenital syphilis stigmata may develop in his later years. The Centers for Disease Control recommends screening all pregnant women for syphilis at the beginning of prenatal care. Clinicians should be made aware of the manifestations of congenital syphilis, especially when caring for international orphans and children born to mothers who lacked prenatal care. © 2010 Wiley Periodicals, Inc.

Severe complications in wound healing and fracture treatment in two brothers with congenital insensitivity to pain with anhidrosis.

PubMed

Rapp, Marion; Spiegler, Juliane; Härtel, Christoph; Gillessen-Kaesbach, Gabrielle; Kaiser, Martin M

2013-01-01

Congenital insensitivity to pain with anhidrosis is an autosomal recessive disorder caused by mutations in the neurotrophic tyrosine receptor kinase 1 (NTRK1) gene, which encodes the receptor for nerve growth factor. We report the clinical and radiological pitfalls in the diagnosis and treatment of two brothers, aged 5 and 8 years, with congenital insensitivity to pain with anhidrosis, the older brother having a proven NTRK1 mutation. In the neonatal period, both presented with recurrent episodes of fever of unknown origin, but their clinical problems changed later. In addition to severe mental retardation and self-harming behaviour, the older brother developed recurrent nonbacterial destructive infections of both the calcaneus and later the talus. No immunodeficiency was found. The younger brother had three complex fractures with a long history of healing problems: overwhelming production of callus, osteomyelitis and movement restrictions. He has less mental retardation than his older brother and shows no self-mutilation.

A Case of Unicornuate Uterus with Atypical Located Hyperstimulated Ovary after in Vitro Fertilization Pre-Embryo Transfer (IVF-ET)

PubMed Central

Angelova, Mariya Angelova; Kovachev, Emil Georgiev; Kisyov, Stefan Vasilev; Ivanova, Vilislava Robert

2015-01-01

The authors describe a case of a congenital Mullerian anomaly, uterus unicornis with missing right fallopian tube. An in Vitro Fertilization Pre-Embryo Transfer (IVF-ET) procedure was done and presently is known that the patient has left fallopian tube and left ovary, two kidneys, and right ovary is missing. No diagnostic laparoscopy and hysteroscopy were done, only hysterosalpingography (HSG) before the IVF procedure. Several days after the follicular puncture of the left ovary the patient was urgently admitted to the hospital for specialized gynaecology in Varna. Transabdominal ultrasonography showed right ovary atypically located immediately next to the liver and with emerging theca-lutein cysts. PMID:27275261

Ten-year experience of recombinant activated factor VII use in surgical patients with congenital haemophilia with inhibitors or acquired haemophilia in Japan.

PubMed

Takedani, H; Shima, M; Horikoshi, Y; Koyama, T; Fukutake, K; Kuwahara, M; Ishiguro, N

2015-05-01

Patients with congenital haemophilia with inhibitors or acquired haemophilia are at risk of bleeding complications during surgery. In these patients, replacement therapy for the missing coagulation factor is ineffective, and a bypassing agent such as recombinant activated factor VII (rFVIIa) is required to manage bleeding. To evaluate the safety and haemostatic efficacy of rFVIIa treatment in Japanese patients with congenital haemophilia with inhibitors to FVIII/FIX or acquired haemophilia undergoing surgery. Postmarketing surveillance data from May 2000 to March 2010 were analysed to assess the haemostatic efficacy of 38 procedures in 22 patients with congenital haemophilia A, 13 procedures in seven patients with congenital haemophilia B, and five procedures in five patients with acquired haemophilia. Postoperative bleeding control was judged to be effective (bleeding was stopped completely or reduced considerably) for 34/38 procedures (89%) in patients with congenital haemophilia A, 10/13 procedures (77%) in patients with congenital haemophilia B, and 4/5 procedures (80%) in patients with acquired haemophilia. Tranexamic acid was used concomitantly for 36/56 procedures (64%). Safety was analysed for 66 procedures in 37 patients. Adverse effects potentially related to rFVIIa treatment included mild superficial thrombophlebitis, mild decrease in platelet count, and mild elevation of the serum alanine transaminase level in one patient each. All adverse effects resolved without treatment. Administration of rFVIIa provided adequate haemostasis without serious adverse effects in the majority of cases. The efficacy and safety data in Japanese patients were similar to previously published data from other countries. © 2014 The Authors. Haemophilia Published by John Wiley & Sons Ltd.

Congenital lumbar spinal stenosis: a prospective, control-matched, cohort radiographic analysis.

PubMed

Singh, Kern; Samartzis, Dino; Vaccaro, Alexander R; Nassr, Ahmad; Andersson, Gunnar B; Yoon, S Tim; Phillips, Frank M; Goldberg, Edward J; An, Howard S

2005-01-01

Degenerative lumbar spinal stenosis manifests primarily after the sixth decade of life as a result of facet hypertrophy and degenerative disc disease. Congenital stenosis, on the other hand, presents earlier in age with similar clinical findings but with multilevel involvement and fewer degenerative changes. These patients may have subtle anatomic variations of the lumbar spine that may increase the likelihood of thecal sac compression. However, to the authors' knowledge, no quantitative studies have addressed various radiographic parameters of symptomatic, congenitally stenotic individuals to normal subjects. To radiographically quantify and compare the anatomy of the lumbar spine in symptomatic, congenitally stenotic individuals to age- and sex-matched, asymptomatic, nonstenotic controlled individuals. A prospective, control-matched, cohort radiographic analysis. Axial and sagittal magnetic resonance imaging (MRI) and lateral, lumbar, plain radiographs of 20 surgically treated patients who were given a clinical diagnosis of congenital lumbar stenosis by the senior author were randomized with images of 20, asymptomatic age- and sex-matched subjects. MRIs and lateral, lumbar, plain radiographs were independently quantitatively assessed by two individuals. Measurements obtained from the axial MRIs included: midline anterior-posterior (AP) vertebral body diameter, vertebral body width, midline AP canal diameter, canal width, spinal canal cross-sectional area, pedicle length, and pedicle width. From the sagittal MRIs, the following measurements were calculated: AP vertebral body diameter, vertebral body height, and AP canal diameter at the mid-vertebral level. On the lateral, lumbar, plain radiograph (L3 level), the AP diameters of the vertebral body spinal canal were measured. The images of these 40 individuals were then randomized and distributed in a blinded fashion to five separate spine surgeons who graded the presence and severity of congenital stenosis utilizing a five-tier scale. Images consisting of 15 symptomatic individuals, graded definitely congenitally stenotic (mean age, 51.7 years; range, 43-65 years), and 15 asymptomatic individuals, graded definitely not stenotic (mean age, 50.7 years; range, 41-55 years), were age- and sex-matched and included for further review. From these 30 patients, a lateral, lumbar, plain radiograph and axial and sagittal MRIs (T1/T2 weighted) from L2-L5 were quantitatively analyzed. Rater reliability was assessed by Kappa coefficient testing. The cross-sectional area of the canal was significantly smaller in the congenitally stenotic patients at all lumbar levels measured (L2: 176 mm(2) vs. 259 mm(2), L3: 177 mm(2) vs. 275 mm(2), L4: 183 mm(2) vs. 283 mm(2), L5: 213 mm(2) vs. 323 mm(2), p<.05). Pedicle length was markedly shorter in the stenosis group at each lumbar level (L2: 5.9 mm vs. 8.9 mm, L3: 6.0 mm vs. 8.8 mm, L4: 6.5 mm vs. 9.2 mm, L5: 5.8 mm vs. 9.1 mm, p<.05). Furthermore, midline, axial AP canal diameter, vertebral body width, and sagittal AP canal diameter were all significantly smaller than the control patients (p<.05). A ratio of the AP diameter of the pedicle length to the vertebral body was also noted to be statistically significant on both the lateral plain radiographs (L3: 0.426 vs. 0.704) and sagittal MRI (L2: 0.343 vs. 0.461, L3: 0.361 vs. 0.461, L4: 0.362 vs. 0.481, L5: 0.354 vs. 0.452, p<.05). No difference was noted comparing the AP diameter of the vertebral body (axial and sagittal images), vertebral body height, canal width, and pedicle width. Kappa testing coefficient indicated a strong rater reliability (k=0.81, 95% confidence interval: 0.62-0.94). Congenital lumbar stenosis has not been clearly defined radiographically. Clinically, congenitally stenotic patients present at a younger age with fewer degenerative changes and multiple levels of involvement. Radiographically, these patients have a shorter pedicular length and as a result a smaller cross-sectional spinal canal area (mean critical values of 6.5 mm and 213 mm(2) were observed, respectively). The mean critical ratios were 0.43 (2:1 AP vertebral body: pedicle length) on the lateral lumbar radiograph and 0.36 on the sagittal MRI. The altered canal anatomy resulting from a decreased pedicle length may anatomically predispose these patients to earlier complaints of symptomatic neurogenic claudication. Identification of the presence of congenital stenosis should increase the treating surgeon's awareness of the potential need for multilevel treatment.

Long-Term Visual Outcomes of Secondary Intraocular Lens Implantation in Children with Congenital Cataracts

PubMed Central

Jiang, Yongxiang; Lu, Yi

2015-01-01

Aim The aim of this study was to evaluate the long-term visual outcomes and factors affecting visual results in children undergoing secondary intraocular lens (IOL) implantation following primary congenital cataract extraction. Methods Children with congenital cataracts who underwent secondary IOL implantation for aphakia at the Eye and ENT Hospital of Fudan University between January 1, 2001, and December 31, 2007, were retrospectively reviewed. One eye was randomly selected in children with bilateral cataracts. Laterality, type of cataract (total or partial opacity), sex, age at primary and secondary surgeries, visual axis opacity (VAO), compliance with amblyopia therapy, postoperative ocular complications, refractive error, ocular alignment, and best corrected visual acuity (BCVA) at last follow-up were recorded; potential factors that might have affected the visual results were evaluated. Results Seventy-six bilateral and 34 unilateral congenital cataract cases were analyzed; the mean ages of the children were 12.70±5.06 and 12.50±2.71 years at final follow-up, the mean follow-up periods from IOL implantation were 94.93±24.22 and 109.09±18.89 months, and the mean BCVA (Log MAR) values were 0.51±0.37 and 1.05±0.46, respectively. Final BCVA after secondary IOL implantation was significantly associated with laterality, type of cataract, age at primary cataract extraction, compliance with amblyopia therapy, and refractive correction after surgery. No significant associations were found between BCVA and sex, age at secondary IOL implantation, VAO, or other ocular complications. The most common ocular complications were VAO and elevated intraocular pressure after surgery. There were no other complications, with the exception of one eye with IOL dislocation. Conclusions The results indicate that the important determinants of long-term visual outcomes in children with congenital cataracts undergoing secondary IOL implantation are laterality, cataract type, age at initial cataract extraction, compliance with amblyopia therapy, and refractive error. PMID:26230501

Radiographic Study of the Prevalence and Distribution of Hypodontia Associated with Unilateral and Bilateral Clef Lip and Palate in a Hungarian Population

PubMed Central

Berniczei-Roykó, Ádám; Tappe, Jan-Hendrik; Krinner, Axel; Gredes, Tomasz; Végh, András; Gábor, Katona; Linkowska-Świdzińska, Kamila; Botzenhart, Ute Ulrike

2016-01-01

Background Cleft defects are one of the most frequent birth-deformities of the orofacial region and they are commonly associated with anomalies of the tooth structure, size, shape, formation, eruption, and tooth number. The aim of our study was to evaluate the prevalence, distribution, and potential association of combined hypodontia in cleft-affected patients with regard to all types of teeth in both jaws in the permanent dentition. Material/Methods This retrospective radiographic analysis included patients with various types of clefts treated orthodontically in the Department of Orofacial Orthopedics and Orthodontics at Heim Pàl Children’s Hospital, Budapest. There were 150 patients (84 males, 66 females) with non-syndromic unilateral (UCLP; n=120 patients) or bilateral (BCLP; n=30 patients) cleft formation (lip, alveolus and palate) who met the inclusion criteria. Statistical analysis was performed using the chi-square test and Fisher’s exact test (significance level p<0.05). Results Hypodontia was significantly more frequent in patients with cleft-sided lateral incisor (104 patients, 69%), with a total of 235 missing teeth, followed by the second premolars of the upper and lower jaw. A significant correlation of congenital missing teeth was observed in left-sided clefts between the upper and lower second premolar in the cleft area. Conclusions Hypodontia inside and outside the cleft area was frequently observed. This should affect the therapy plans, especially if the cleft-sided premolar is also absent. Further comprehensive research including numerous random samples is necessary for better estimating other possible associations. PMID:27767023

Changing perspectives in screening for congenital hypothyroidism and congenital adrenal hyperplasia.

PubMed

Mitchell, Marvin L; Hsu, Ho-Wen; Sahai, Inderneel

2014-02-01

The purpose of this review is to summarize recent information that has had a significant impact on the laboratory diagnosis and clinical management of newborns with congenital hypothyroidism and congenital adrenal hyperplasia (CAH). An approximate doubling of the incidence rate of congenital hypothyroidism in many parts of the world has been attributed to increased detection of infants with mild disease, delayed thyroid stimulating hormone elevations and demographic changes. A substantial number of children with modest thyroid stimulating hormone elevations on screening have permanent disease. Circulating levels of thyroxine may vary among hypothyroid children who are given identical dosages of medication. Treated infants should be monitored every 1-2 months during the first year of life. Although, generic and brand name thyroxine preparations may not be bioequivalent, children can be well controlled on generic formulations.Enzyme linked immunoassay assay for 17-hydroxyprogesterone is associated with a high rate of false positive specimens. In attempts to minimize this problem, some programs have resorted to two-tier screening of the initial specimen with steroid profiling as the second tier. Several programs are routinely testing second specimens in an effort to reduce the incidence of missed CAH cases. This review explains the uptick in incidence rate of congenital hypothyroidism and underscores issues in management that can affect developmental outcome. One specimen two-tier testing for CAH resulted in an increased false negative rate without significantly reducing the false positive rate. The benefit of collecting second specimens for CAH screening is problematic. Optimal treatment of CAH continues to pose a challenge.

European Home Mechanical Ventilation Registry

ClinicalTrials.gov

2016-10-25

Pulmonary Disease, Chronic Obstructive; Amyotrophic Lateral Sclerosis; Spinal Cord Injury; Muscular Dystrophies; Obesity Hypoventilation Syndrome; Kyphoscoliosis; Congenital Central Hypoventilation Syndrome; Duchenne Muscular Dystrophy; Myopathies; Myotonic Dystrophy

MISSE-6 hardware

NASA Image and Video Library

2009-09-02

ISS020-E-037367 (1 Sept. 2009) --- A close-up view of a Materials International Space Station Experiment (MISSE-6) on the exterior of the Columbus laboratory is featured in this image photographed by a space walking astronaut during the STS-128 mission’s first session of extravehicular activity (EVA). MISSE collects information on how different materials weather in the environment of space. MISSE was later placed in Space Shuttle Discovery’s cargo bay for its return to Earth.

Severe congenital cyclic neutropenia: A case report

PubMed Central

Patil, Vidyavathi H; Hugar, Shivayogi M; Balikai, Girish; Patil, Sudha

2016-01-01

Congenital cyclic neutropenia syndrome is a constitutional genetic disorder which is characterized by very low number of neutrophils (neutropenia). Patients suffering from this disorder clinically present with neutropenia at early age, history of recurrent fever, ulcerations in the oral cavity, gingivitis, and other recurrent infections. This paper describes a case report of a child with recurrent mouth ulcers, fever, and later diagnosed with severe congenital cyclic neutropenia. This also emphasizes the importance of identification of rare causes of immunosuppressive conditions in children presenting with recurrent oral ulcers and poor dental hygiene, to prevent long-term complications of oral cavity and also morbidity and mortality secondary to neutropenic sepsis. PMID:27857902

20 CFR 61.307 - Transportation of recovered bodies of missing persons.

Code of Federal Regulations, 2010 CFR

2010-04-01

... 20 Employees' Benefits 1 2010-04-01 2010-04-01 false Transportation of recovered bodies of missing... Benefits § 61.307 Transportation of recovered bodies of missing persons. If an employee dies while in detention and the body is later recovered, the Office may provide the cost of transporting the body to the...

Total knee arthroplasty in a pseudoachondroplastic dwarfism patient with bilateral patellar dislocation.

PubMed

Oh, Kwang-Jun; Yoon, Jung-Ro; Yang, Jae-Hyuk

2013-01-01

Late presentation of congenital patellar dislocation with advanced osteoarthritis is rare. This article presents a case of a 59-year-old man with underlying pseudoachondroplastic dwarfism. Advanced osteoarthritis due to bilateral neglected congenital patellar dislocation was treated with total knee arthroplasty without patella relocation surgery. Two years later, the patient had an improvement in Knee Society scores, painless function, and stability. Copyright © 2012 Elsevier B.V. All rights reserved.

Digital evaluation of orbital development in chinese children with congenital microphthalmia.

PubMed

Yang, Guang; Wang, Jing; Chang, Qinglin; Wang, Zhenchang; Geng, Yulei; Li, Dongmei

2012-09-01

To evaluate the asymmetry of bilateral orbital development in Chinese children with congenital microphthalmia and to provide a criterion for tailoring treatment timing and therapy. Retrospective cohort study. By combining multisection helical computerized tomography imaging with a computer-aided design system, we measured 38 children between 0 and 6 years of age with congenital microphthalmia and 70 normal children of the same age group. Variables were measured, including orbital volume, depth, width, and height and eyeball volume. Displacement of the orbital rims was calculated by mirroring the unaffected orbit across the midsagittal plane of body. Significant differences were observed between the orbital volume, eyeball volume, orbital width, and orbital height of the affected and unaffected sides of children with congenital microphthalmia (P < .001). The difference between the orbital depth of the affected and unaffected sides was not significant (P = .055). Growth of the inferior and lateral rims retarded by an average of 3 mm, whereas that of the medial and superior rims retarded by less than 1 mm. The amount of decrease in orbital volume of children with congenital microphthalmia is related to the severity of the disease (decrease in size of the eye), rather than to age. Retarded orbital development is evident primarily in the inferior and lateral rims, correlating mostly with zygomatic and then maxilla and frontal bone. The growth of the affected orbit slows down or even stagnates by 3 years of age. Intervention therapy before 3 years of age was critical. Copyright © 2012 Elsevier Inc. All rights reserved.

Thromboembolism and congenital malformations: from Duane syndrome to thalidomide embryopathy.

PubMed

Parsa, Cameron F; Robert, Matthieu P

2013-04-01

To propose a pathophysiologic mechanism to unify a variety of disparate sporadic congenital malformations. Inductive and deductive analyses to correlate malformation laterality with asymmetries in thoracic anatomy, critical analysis of malformations with female predominance, and concepts of hydrodynamic pressure gradients in vascular growth were applied to the ensuing development of guiding tissue scaffolds for cellular proliferation, differentiation, and apoptosis. Duane syndrome may develop following a focal vascular insult to the sixth nerve trunk with axonal degeneration, allowing for substitutive innervation from third nerve axons to the lateral rectus muscle. Causative fibrin clots may originate from the venous system and paradoxically migrate through physiological right-to left shunts, or they may arise directly from the heart. Hence, the unilateral, left-sided, and female predominance of Duane syndrome results from the asymmetry in the thoracic anatomy and from thrombosis risk factors. Embolic occlusions may also alter local hemodynamic pressure gradients, leading to the compensatory enlargement and persistence of the fetal vasculature and may dysregulate tissue growth. Within the eye, this results in forms of Peters anomaly, unilateral congenital cataracts, and the morning glory disc anomaly, all in the vascular territory of the carotid arteries that also share a propensity for left-sided involvement in girls. Most aberrant misinnervation phenomena (eg, jaw-winking syndrome, crocodile tear syndrome, Brown syndrome, and congenital fibrosis syndrome) and, by extrapolation, the hypoplasia or dysgenesis of noncephalic anatomical structures (including limbs) may be similarly explained. Such malformations will occur more frequently under thrombogenic conditions, such as those induced by thalidomide. Fibrin emboli and focal hypoperfusion may explain the development of many sporadic congenital malformations.

Prevalence of abnormalities in dental structure, position, and eruption pattern in a population of unilateral and bilateral cleft lip and palate patients.

PubMed

Tortora, Chiara; Meazzini, Maria C; Garattini, Giovanna; Brusati, Roberto

2008-03-01

To evaluate the dental characteristics of patients subjected to a protocol that included early secondary gingivoalveoloplasty (ESGAP). Panoramic radiographs of 87 patients with unilateral cleft lip and palate (UCLP) and 29 with bilateral cleft lip and palate (BCLP) were evaluated. Missing and supernumerary teeth were also quantified on the cleft and noncleft side and in the maxilla and mandible. Crown and root malformations and tooth rotations were quantified. A subsample in permanent dentition was extrapolated to analyze canine eruption patterns. A total of 48.8% of the UCLP patients presented with missing permanent lateral incisors in the cleft area and 6.1% contralaterally. A total of 4.9% presented with missing second maxillary premolars on the cleft site and 1.2% contralaterally. A total of 7.3% presented with supernumerary lateral incisors, and 45% of the BCLP cleft sites presented with missing lateral incisors, while 25% of the cleft sites presented second maxillary premolars agenesis. Five percent of the cleft sites presented with supernumerary lateral incisors. Evaluation of the subsample in permanent dentition showed that 15.5% had a canine retention and 4.4% of the canines had to be surgically exposed. A significant association was observed between canine inclination and retention but not with absence of the lateral incisor. The frequency of dental anomalies in this sample was similar to other cleft populations. As surgical trauma has been suggested to damage forming teeth, the results of this study indicated that ESGAP has no detrimental influence on subsequent dental development.

Evaluation of the Immediate Dentofacial Changes in Late Adolescent Patients Treated with the Forsus™ FRD

PubMed Central

Gunay, Esen Ali; Arun, Tulin; Nalbantgil, Didem

2011-01-01

Objectives: The purpose of this study was to evaluate the short-term dentoalveolar and soft tissue changes in late adolescent patients treated with the Forsus™ FRD. Methods: A prospective study was carried out on 54 lateral cephalometric radiograms that were taken before placement and after removal of the appliance in the treatment group (15 subjects) and at the beginning and six months after in the control group (12 subjects). The patient selection criteria were as follows: skeletal and dental Class II malocclusion due to retrognatic mandible, normal or low-angle growth pattern, post-peak growth period, no extracted or congenitally missing permanent teeth, and minimum crowding in the lower dental arch. Results: The statistical assesment of the data suggested the following results: No sagital and vertical skeletal changes were induced. The mandibular incisors were protruded and intruded, while the maxillary incisors were retruded and extruded. The occlusal plane was rotated in clockwise direction as a result of these dentoalveolar changes. Overbite and overjet were reduced in all patients. Soft tissue profile slightly improved. Conclusions: The results revealed that, in late-adolescent patients Forsus™ FRD corrected Class II discrepancies through maxillary and mandibular dentoalveolar changes. PMID:22589581

Evaluation of the Immediate Dentofacial Changes in Late Adolescent Patients Treated with the Forsus(™) FRD.

PubMed

Gunay, Esen Ali; Arun, Tulin; Nalbantgil, Didem

2011-10-01

The purpose of this study was to evaluate the short-term dentoalveolar and soft tissue changes in late adolescent patients treated with the Forsus™ FRD. A prospective study was carried out on 54 lateral cephalometric radiograms that were taken before placement and after removal of the appliance in the treatment group (15 subjects) and at the beginning and six months after in the control group (12 subjects). The patient selection criteria were as follows: skeletal and dental Class II malocclusion due to retrognatic mandible, normal or low-angle growth pattern, post-peak growth period, no extracted or congenitally missing permanent teeth, and minimum crowding in the lower dental arch. THE STATISTICAL ASSESMENT OF THE DATA SUGGESTED THE FOLLOWING RESULTS: No sagital and vertical skeletal changes were induced. The mandibular incisors were protruded and intruded, while the maxillary incisors were retruded and extruded. The occlusal plane was rotated in clockwise direction as a result of these dentoalveolar changes. Overbite and overjet were reduced in all patients. Soft tissue profile slightly improved. The results revealed that, in late-adolescent patients Forsus™ FRD corrected Class II discrepancies through maxillary and mandibular dentoalveolar changes.

The association between prune belly syndrome and dental anomalies: a case report.

PubMed

Basso, Maria Daniela; Favretto, Carla Oliveira; Cunha, Robson Frederico

2012-12-18

Prune belly syndrome is a rare condition produced by an early mesodermal defect that causes abdominal abnormalities. However, the literature indicates that disturbances related to ectodermal development may also be present. This is the first case report in the literature to suggest that dental abnormalities are part of the broad spectrum of clinical features of prune belly syndrome. Because the syndrome causes many serious medical problems, early diagnosis of abnormalities involving the primary and permanent dentitions are encouraged. The authors report the clinical case of a 4-year-old Caucasian boy with prune belly syndrome. In addition to the triad of abdominal muscle deficiency, abnormalities of the gastrointestinal and urinary tracts, and cryptorchidism, a geminated mandibular right central incisor, agenesis of a mandibular permanent left incisor, and congenitally missing primary teeth (namely, the mandibular right and left lateral incisors) were noted. This original case report about prune belly syndrome highlights the possibility that dental abnormalities are a part of the broad spectrum of clinical features of the syndrome. Therefore, an accurate intra-oral clinical examination and radiographic evaluation are required for patients with this syndrome in order to provide an early diagnosis of abnormalities involving the primary and permanent dentitions.

The Influence of Averageness on Adults' Perceptions of Attractiveness: The Effect of Early Visual Deprivation.

PubMed

Vingilis-Jaremko, Larissa; Maurer, Daphne; Rhodes, Gillian; Jeffery, Linda

2016-08-03

Adults who missed early visual input because of congenital cataracts later have deficits in many aspects of face processing. Here we investigated whether they make normal judgments of facial attractiveness. In particular, we studied whether their perceptions are affected normally by a face's proximity to the population mean, as is true of typically developing adults, who find average faces to be more attractive than most other faces. We compared the judgments of facial attractiveness of 12 cataract-reversal patients to norms established from 36 adults with normal vision. Participants viewed pairs of adult male and adult female faces that had been transformed 50% toward and 50% away from their respective group averages, and selected which face was more attractive. Averageness influenced patients' judgments of attractiveness, but to a lesser extent than controls. The results suggest that cataract-reversal patients are able to develop a system for representing faces with a privileged position for an average face, consistent with evidence from identity aftereffects. However, early visual experience is necessary to set up the neural architecture necessary for averageness to influence perceptions of attractiveness with its normal potency. © The Author(s) 2016.

MISSE-6 hardware

NASA Image and Video Library

2009-09-02

ISS020-E-037372 (1 Sept. 2009) --- A close-up view of a Materials International Space Station Experiment (MISSE-6) on the exterior of the Columbus laboratory is featured in this image photographed by a space walking astronaut during the STS-128 mission’s first session of extravehicular activity (EVA). MISSE collects information on how different materials weather in the environment of space. MISSE was later placed in Space Shuttle Discovery’s payload bay for its return to Earth. A portion of a payload bay door is visible in the background.

MISSE-6 hardware

NASA Image and Video Library

2009-09-02

ISS020-E-037369 (1 Sept. 2009) --- A close-up view of a Materials International Space Station Experiment (MISSE-6) on the exterior of the Columbus laboratory is featured in this image photographed by a space walking astronaut during the STS-128 mission’s first session of extravehicular activity (EVA). MISSE collects information on how different materials weather in the environment of space. MISSE was later placed in Space Shuttle Discovery’s payload bay for its return to Earth. A portion of a payload bay door is visible in the background.

Early implant placement for a patient with ectodermal dysplasia: Thirteen years of clinical care.

PubMed

Knobloch, Lisa A; Larsen, Peter E; Saponaro, Paola C; L'Homme-Langlois, Emilie

2017-11-29

Patients with ectodermal dysplasia have abnormalities of 2 or more structures that originate from the ectoderm. The oral manifestations often include the congenital absence of teeth and malformed teeth. This clinical report describes the interdisciplinary care from childhood through the definitive dental rehabilitation completed at skeletal maturation to replace the missing teeth in a patient with ectodermal dysplasia. Treatment began at 9 years of age with an implant-assisted mandibular overdenture to improve function and replace the missing mandibular teeth. Orthodontic treatment for the consolidation of space, composite resin restorations, and interim removable dental prostheses were provided to improve esthetics and replace the missing maxillary teeth. Skeletal growth was monitored, and orthognathic surgery was performed at the cessation of growth. The definitive rehabilitation consisted of a mandibular fixed dental prosthesis supported by dental implants and a maxillary removable dental prosthesis to restore the patient to esthetics and function. Copyright © 2017 Editorial Council for the Journal of Prosthetic Dentistry. Published by Elsevier Inc. All rights reserved.

Selective atrophy in the lateral geniculate nucleus associated with iris coloboma in cat.

PubMed

Richards, W

1977-01-01

A kitten with a unilateral, congenital coloboma of the iris was raised in a normal environment and sacrificed at 6 monthlicted eye was seen in Nissl-stained sections taken through the lateral geniculate. The result suggests that image degradation is more important than luminance reduction in causing selective changes in the visual pathway.

Inferolateral migration of hydrogel orbital implants in microphthalmia.

PubMed

Tao, Jeremiah P; LeBoyer, Russell M; Hetzler, Kathy; Ng, John D; Nunery, William R

2010-01-01

Hydrogel spheres may be useful in treating orbital hypoplasia associated with congenital microphthalmia. The authors describe migration associated with the use of these devices. The authors retrospectively reviewed 5 cases in which a hydrogel orbital expander (Osmed) was implanted to treat orbital hypoplasia in pediatric patients with congenital microphthalmia (with or without previous surgery). In all 5 cases, a lateral orbitotomy, conjunctiva-sparing approach was used to insert the hydrogel spheres. Two cases involved previously unoperated orbits; 3 patients had prior orbit or socket surgery. Inferolateral movement outside the desired central, deep orbital position occurred in all 5 cases. Four of 5 cases required further procedures to achieve an adequate orbital implant position. Inferolateral migration may occur with hydrogel spheres implanted via a lateral orbitotomy approach in microphthalmia.

"Sky Full of Stars" Pattern: Dermoscopic Findings in a Desmoplastic Giant Congenital Melanocytic Nevus.

PubMed

Martín-Carrasco, Pablo; Bernabeu-Wittel, José; Dominguez-Cruz, Javier; Zulueta Dorado, Teresa; Conejo-Mir Sanchez, Julian

2017-05-01

Desmoplastic giant congenital melanocytic nevus (DGCN) is an uncommon variant of congenital nevus, presenting as a progressive induration and hypopigmentation of the lesion that occasionally causes hair loss and even total or partial disappearance of the nevus. A 6-month-old girl with a giant congenital melanocytic nevus that involved the entire posterior side of the right thigh was seen in our department. Nine months later, the peripheral area of the nevus presented as a marked induration with hypopigmentation. Dermoscopy demonstrated a reticular pattern exclusively located in the perifollicular areas, with a radial distribution from the follicular ostium that mimicked a "sky full of stars." We report a case of DGCN, including a dermoscopic description of the findings noted in the indurated and hypopigmented areas that appear as a "sky full of stars" image. © 2017 Wiley Periodicals, Inc.

Congenital portosystemic shunt: our experience.

PubMed

Timpanaro, Tiziana; Passanisi, Stefano; Sauna, Alessandra; Trombatore, Claudia; Pennisi, Monica; Petrillo, Giuseppe; Smilari, Pierluigi; Greco, Filippo

2015-01-01

Introduction. Congenital portosystemic venous malformations are rare abnormalities in which the portal blood drains into a systemic vein and which are characterized by extreme clinical variability. Case Presentations. The authors present two case reports of a congenital extrahepatic portosystemic shunt (Type II). In the first patient, apparently nonspecific symptoms, such as headache and fatigue, proved to be secondary to hypoglycemic episodes related to the presence of a portosystemic shunt, later confirmed on imaging. During portal vein angiography, endovascular embolization of the portocaval fistula achieved occlusion of the anomalous venous tract. In the second patient, affected by Down's syndrome, the diagnosis of a portosystemic malformation was made by routine ultrasonography, performed to rule out concurrent congenital anomalies. Because of the absence of symptoms, we chose to observe this patient. Conclusions. These two case reports demonstrate the clinical heterogeneity of this malformation and the need for a multidisciplinary approach. As part of a proper workup, clinical evaluation must always be followed by radiographic diagnosis.

Congenital tuberculosis in an extremely preterm infant conceived after in vitro fertilization: case report.

PubMed

Samedi, Veronica; Field, Stephen K; Al Awad, Essa; Ratcliffe, Gregory; Yusuf, Kamran

2017-02-20

Congenital tuberculosis is a rare manifestation of tuberculosis. The diagnosis is often delayed, especially in preterm neonates because of the non-specific clinical presentation and the lack of awareness of maternal disease prior to pregnancy. We report a case of congenital tuberculosis in an infant born at 24 weeks of gestation to a mother who presented with uncontrolled seizures during preterm labor. Maternal diagnosis was initially made by placental pathology, and later confirmed by isolation of Mycobacterium tuberculosis in urine, gastric aspirates and sputum. Full screening was performed on the newborn infant, and both mother and infant were successfully treated for tuberculosis with a four drug regimen. Pregnancy can exacerbate latent tuberculosis and women originating from endemic areas are especially susceptible. The best way to prevent congenital tuberculosis is to have a high index of suspicion and identify and treat tuberculosis in pregnant women.

[Percutaneous intervention in the correction of congenital heart deffects (DCC): experience in as UMAE].

PubMed

Campos-García, Vicente; Ordóñez-Toquero, Guillermo; Monjaraz-Rodríguez, Sarain; Gómez-Conde, Eduardo

Congenital heart defects are common in infants and adults, affecting quality of life if not corrected. Unlike open surgery, percutaneous intervention allows correction with a high success rate and speedy recovery. In Mexico, there are not enough studies to describe their efficacy and safety. A cohort study was conducted in the Hospital "Manuel Avila Camacho", in Puebla, Mexico, including 149 patients with congenital heart defects repaired by percutaneous intervention, recording data from clinical records. The following were documented: post-guided fluoroscopy, hemodynamic changes, cardiac catheterization drilling anatomical changes, and complications six months later such as infection or bleeding at the puncture site, device migration, endocarditis, or death. SPSS was used, using descriptive and inferential statistics. The patients' congenital heart defects treated were ductus arteriosus, atrial septal defect, and aortic coarctation, with ductus arteriosus being recorded as the most frequent congenital heart defect. Primary angioplasties were performed in 75% and stenting in the rest. Anatomical corrections of congenital defects were successful in 96.4% of patients (p < 0.01), with minimal adverse effects (p < 0.01). We conclude that our hospital has good efficacy and safety in percutaneous intervention, comparable to published reports.

Warnings reduce false memories for missing aspects of events.

PubMed

Gerrie, Matthew P; Garry, Maryanne

2011-01-01

When people see movies with some parts missing, they falsely recognize many of the missing parts later. In two experiments, we examined the effect of warnings on people's false memories for these parts. In Experiment 1, warning subjects about false recognition before the movie (forewarnings) reduced false recognition, but warning them after the movie (postwarnings) reduced false recognition to a lesser extent. In Experiment 2, the effect of the warnings depended on the nature of the missing parts. Forewarnings were more effective than postwarnings in reducing false recognition of missing noncrucial parts, but forewarnings and postwarnings were similarly effective in reducing false recognition of crucial missing parts. We use the source monitoring framework to explain our results.

Micro Imaging Spectrometer for Subsurface Studies of Martian Soil: Ma_Miss

NASA Astrophysics Data System (ADS)

de Sanctis, M. C.; Coradini, A.; Ammannito, E.; Boccaccini, A.; di Iorio, T.; Battistelli, E.; Capanni, A.

2012-03-01

Ma_Miss (Mars Multispectral Imager for Subsurface Studies) is a spectrometer devoted to observe the lateral wall of the borehole generated by the drill installed on the ExoMars Pasteur Rover to perform in situ investigations in the Mars subsurface.

Branchial Cleft Cyst.

PubMed

Nahata, Vaishali

2016-01-01

Branchial cleft cyst, sinuses, and fistulae are among the most commonly encountered congenital anomalies in pediatric otolaryngic practice. They can present difficulty in diagnosis and surgical management. Here, I report a case of 14-year-old boy who presented with asymptomatic, congenital swelling located just below the jawline in the lateral part of the neck. The lesion was excised surgically. Histopathology showed the cyst lined by squamous as well as columnar ciliated epithelium, which was a characteristic finding of branchial cleft cyst. The aim of presenting this case is its rarity.

Congenital malalignment of the great toenails: case report and literature review.

PubMed

Cohen, P R

1991-03-01

A 10-year-old black boy had congenital malalignment of the great toenails (CMGTN). It is important to recognize this condition since several nail disorders can occur concurrently with and/or clinically mimic it. Treatment is dependent on the severity of the condition, and includes conservative management and subsequent examination to detect CMGTN-associated complications for patients with mild lateral deviation of the nail plate, or surgical realignment for individuals with either marked nail plate deviation or condition-related disabling sequelae.

Functional study of DAND5 variant in patients with Congenital Heart Disease and laterality defects.

PubMed

Cristo, Fernando; Inácio, José M; de Almeida, Salomé; Mendes, Patrícia; Martins, Duarte Saraiva; Maio, José; Anjos, Rui; Belo, José A

2017-07-24

Perturbations on the Left-Right axis establishment lead to laterality defects, with frequently associated Congenital Heart Diseases (CHDs). Indeed, in the last decade, it has been reported that the etiology of isolated cases of CHDs or cases of laterality defects with associated CHDs is linked with variants of genes involved in the Nodal signaling pathway. With this in mind, we analyzed a cohort of 38 unrelated patients with Congenital Heart Defects that can arise from initial perturbations in the formation of the Left-Right axis and 40 unrelated ethnically matched healthy individuals as a control population. Genomic DNA was extracted from buccal epithelial cells, and variants screening was performed by PCR and direct sequencing. A Nodal-dependent luciferase assay was conducted in order to determine the functional effect of the variant found. In this work, we report two patients with a DAND5 heterozygous non-synonymous variant (c.455G > A) in the functional domain of the DAND5 protein (p.R152H), a master regulator of Nodal signaling. Patient 1 presents left isomerism, ventricular septal defect with overriding aorta and pulmonary atresia, while patient 2 presents ventricular septal defect with overriding aorta, right ventricular hypertrophy and pulmonary atresia (a case of extreme tetralogy of Fallot phenotype). The functional analysis assay showed a significant decrease in the activity of this variant protein when compared to its wild-type counterpart. Altogether, our results provide new insight into the molecular mechanism of the laterality defects and related CHDs, priming for the first time DAND5 as one of multiple candidate determinants for CHDs in humans.

Proposal for a new definition of congenital complete atrioventricular block.

PubMed

Brucato, A; Jonzon, A; Friedman, D; Allan, L D; Vignati, G; Gasparini, M; Stein, J I; Montella, S; Michaelsson, M; Buyon, J

2003-01-01

The classic old definition of congenital heart block by Yater (1929) is still generally accepted: 'Heart block established in a young patient. There must be some evidence of the existence of the slow pulse at a fairly early age and absence of a history of any infection which might cause the condition after birth: notably diphtheria, rheumatic fever, chorea and congenital syphilis'. However, other definitions are used. We systematically reviewed 1825 cases from 38 separate studies. We conclude that complete AV blocks detected in utero in the absence of structural abnormalities differ from blocks detected later in life with respect to pathogenesis (they are generally associated with maternal anti-Ro/SSA antibodies), poorer childhood prognosis, increased risk of developing late-onset dilated cardiomyopathy, different maternal clinical features and increased risk of recurrence in future pregnancies. For these reasons we propose a new modern definition of congenital complete AV block which might be acceptable to cardiologists, rheumatologists, pediatricians and obstetricians: 'an AV block is defined as congenital if it is diagnosed in utero, at birth or within the neonatal period (0-27 days after birth)'.

Strategies to finish orthodontic treatment with a Class III molar relationship: three patient reports.

PubMed

Farret, Milton M B; Farret, Marcel M; Farret, Alessandro M

2009-01-01

The purpose of this article is to review treatment concepts for patients with congenitally missing teeth in the mandible, for patients in whom teeth in only the mandibular arch were extracted, or for patients with Class III camouflage treatment. The therapy result in these situations is a Class III molar relationship. With this type of intercuspation, esthetic and functional aspects must be observed. © 2009 BY QUINTESSENCE PUBLISHING CO, INC.

Intrahemispheric white matter asymmetries: the missing link between brain structure and functional lateralization?

PubMed

Ocklenburg, Sebastian; Friedrich, Patrick; Güntürkün, Onur; Genç, Erhan

2016-07-01

Hemispheric asymmetries are a central principle of nervous system architecture and shape the functional organization of most cognitive systems. Structural gray matter asymmetries and callosal interactions have been identified as contributing neural factors but always fell short to constitute a full explanans. Meanwhile, recent advances in in vivo white matter tractography have unrevealed the asymmetrical organization of many intrahemispheric white matter pathways, which might serve as the missing link to explain the substrate of functional lateralization. By taking into account callosal interactions, gray matter asymmetries and asymmetrical interhemispheric pathways, we opt for a new triadic model that has the potential to explain many observations which cannot be elucidated within the current frameworks of lateralized cognition.

Prevalence of dental anomalies in the permanent dentition of children with Down syndrome.

PubMed

Sekerci, Ahmet Ercan; Cantekin, Kenan; Aydinbelge, Mustafa; Ucar, Faruk İzzet

2014-01-01

The purpose of this study was to evaluate the prevalence of various congenital dental anomalies in the permanent dentition of Turkish children with Down syndrome. The sample consisted of 216 diagnostic records of children diagnosed with Down syndrome. All subjects had a clinical examination as well as radiographs and photographs taken. Anomalies in the permanent dentition were documented. There was a high incidence of dental anomalies, the most frequent being taurodontism (81 percent), rotation (28 percent), hypodontia (26 percent), tooth impaction (18 percent), ectopic eruption (14 percent), microdontia (13 percent), and hyperdontia (9 percent). Differences in prevalence of congenitally missing teeth, structural anomalies, and positional anomalies reached a statistically significant level regarding gender (P<.05). Turkish children with Down syndrome presented a high incidence of anomalies affecting the permanent dentition, and, in most cases, individuals presented with more than one anomaly.

Zika Virus Testing and Outcomes during Pregnancy, Florida, USA, 2016

PubMed Central

Shiu, Colette; Starker, Rebecca; Kwal, Jaclyn; Bartlett, Michelle; Crane, Anise; Greissman, Samantha; Gunaratne, Naiomi; Lardy, Meghan; Picon, Michelle; Rodriguez, Patricia; Gonzalez, Ivan

2018-01-01

Zika virus infection during pregnancy can lead to congenital Zika syndrome. Implementation of screening programs and interpretation of test results can be particularly challenging during ongoing local mosquitoborne transmission. We conducted a retrospective chart review of 2,327 pregnant women screened for Zika virus in Miami–Dade County, Florida, USA, during 2016. Of these, 86 had laboratory evidence of Zika virus infection; we describe 2 infants with probable congenital Zika syndrome. Delays in receipt of laboratory test results (median 42 days) occurred during the first month of local transmission. Odds of screening positive for Zika virus were higher for women without health insurance or who did not speak English. Our findings indicate the increase in screening for Zika virus can overwhelm hospital and public health systems, resulting in delayed receipt of results of screening and confirmatory tests and the potential to miss cases or delay diagnoses. PMID:29260671

Familial autosomal dominant severe ankyloglossia with tooth abnormalities.

PubMed

Lenormand, Anaëlle; Khonsari, Roman; Corre, Pierre; Perrin, Jean Philippe; Boscher, Cécile; Nizon, Mathilde; Pichon, Olivier; David, Albert; Le Caignec, Cedric; Bertin, Helios; Isidor, Bertrand

2018-04-28

Ankyloglossia is a congenital oral anomaly characterized by the presence of a hypertrophic and short lingual frenulum. Mutations in the gene encoding the transcription factor TBX22 have been involved in isolated ankyloglossia and X-linked cleft palate. The knockout of Lgr5 in mice results in ankyloglossia. Here, we report a five-generation family including patients with severe ankyloglossia and missing lower central incisors. Two members of this family also exhibited congenital anorectal malformations. In this report, male-to-male transmission was in favor of an autosomal dominant inheritance, which allowed us to exclude the X-linked TBX22 gene. Linkage analysis using short tandem repeat markers located in the vicinity of LGR5 excluded this gene as a potential candidate. These results indicate genetic heterogeneity for ankyloglossia. Further investigations with additional families are required in order to identify novel candidate genes. © 2018 Wiley Periodicals, Inc.

Congenital disorder of true cyclopia with polydactylia: case report and review of the literature.

PubMed

Deftereou, T E; Tsoulopoulos, V; Alexiadis, G; Papadopoulos, E; Chouridou, E; Katotomichelakis, M; Lambropoulou, M

2013-01-01

Cyclopia is a rare type of holoprosencephaly and a congenital disorder characterized by the failure of the embryonic forebrain to properly divide the orbits of the eye into two cavities (the embryonic forebrain is normally responsible for inducing the development of the orbits). As a result a birth defect in which there is only one eye is developed. This eye is centrally placed in the area normally occupied by the root of the nose. As a rule, there is a missing nose or a non-functioning nose in the form of a proboscis (a tubular appendage) located above the central eye. In this report the macroscopic, radiographic, and immunohistochemical findings of a case of true cyclopia in a female fetus are described. Cyclopia is a lethal condition that is associated with dramatic symmetric deformities of the nose, skull, orbits, and brain.

Noonan syndrome.

PubMed

Bhambhani, Vikas; Muenke, Maximilian

2014-01-01

Noonan syndrome is a common genetic disorder that causes multiple congenital abnormalities and a large number of potential health conditions. Most affected individuals have characteristic facial features that evolve with age; a broad, webbed neck; increased bleeding tendency; and a high incidence of congenital heart disease, failure to thrive, short stature, feeding difficulties, sternal deformity, renal malformation, pubertal delay, cryptorchidism, developmental or behavioral problems, vision problems, hearing loss, and lymphedema. Familial recurrence is consistent with an autosomal dominant mode of inheritance, but most cases are due to de novo mutations. Diagnosis can be made on the basis of clinical features, but may be missed in mildly affected patients. Molecular genetic testing can confirm diagnosis in 70% of cases and has important implications for genetic counseling and management. Most patients with Noonan syndrome are intellectually normal as adults, but some may require multidisciplinary evaluation and regular follow-up care. Age-based Noonan syndrome-specific growth charts and treatment guidelines are available.

Conditional deletion of WT1 in the septum transversum mesenchyme causes congenital diaphragmatic hernia in mice

PubMed Central

Carmona, Rita; Cañete, Ana; Cano, Elena; Ariza, Laura; Rojas, Anabel; Muñoz-Chápuli, Ramon

2016-01-01

Congenital diaphragmatic hernia (CDH) is a severe birth defect. Wt1-null mouse embryos develop CDH but the mechanisms regulated by WT1 are unknown. We have generated a murine model with conditional deletion of WT1 in the lateral plate mesoderm, using the G2 enhancer of the Gata4 gene as a driver. 80% of G2-Gata4Cre;Wt1fl/fl embryos developed typical Bochdalek-type CDH. We show that the posthepatic mesenchymal plate coelomic epithelium gives rise to a mesenchyme that populates the pleuroperitoneal folds isolating the pleural cavities before the migration of the somitic myoblasts. This process fails when Wt1 is deleted from this area. Mutant embryos show Raldh2 downregulation in the lateral mesoderm, but not in the intermediate mesoderm. The mutant phenotype was partially rescued by retinoic acid treatment of the pregnant females. Replacement of intermediate by lateral mesoderm recapitulates the evolutionary origin of the diaphragm in mammals. CDH might thus be viewed as an evolutionary atavism. DOI: http://dx.doi.org/10.7554/eLife.16009.001 PMID:27642710

Early functional, esthetic, and psychological rehabilitation of preschool child with nonsyndromic oligodontia and anodontia in mixed dentition stage through conservative systematic approach: A case report with 5-year follow-up.

PubMed

Rathee, Manu; Malik, Poonam; Dua, Madhuri; Yadav, Vikas

2016-01-01

Missing teeth are a common developmental abnormality in humans. It may manifest as absence of varying numbers of primary and/or secondary teeth. Early treatment and follow-up are the key to successful rehabilitation of young patients with congenitally missing teeth. It is critical that oral rehabilitation is started early to maintain and correct the oral functions. Mucosa borne removable prostheses are the commonly selected treatment options for the young patients who present with oligodontia or anodontia. This clinical report describes esthetic, functional, and psychological rehabilitation of a young boy with severe oligodontia in maxillary arch and anodontia in mandibular arch. The individualized conservative graded approach in prosthetic rehabilitation with removable acrylic prosthesis helped to achieve esthetics, functionality, and psychological benefits.

Are the London Declaration's 2020 goals sufficient to control Chagas disease?: Modeling scenarios for the Yucatan Peninsula.

PubMed

Lee, Bruce Y; Bartsch, Sarah M; Skrip, Laura; Hertenstein, Daniel L; Avelis, Cameron M; Ndeffo-Mbah, Martial; Tilchin, Carla; Dumonteil, Eric O; Galvani, Alison

2018-03-01

The 2020 Sustainable Development goals call for 100% certified interruption or control of the three main forms of Chagas disease transmission in Latin America. However, how much will achieving these goals to varying degrees control Chagas disease; what is the potential impact of missing these goals and if they are achieved, what may be left? We developed a compartmental simulation model that represents the triatomine, human host, and non-human host populations and vector-borne, congenital, and transfusional T. cruzi transmission between them in the domestic and peridomestic settings to evaluate the impact of limiting transmission in a 2,000 person virtual village in Yucatan, Mexico. Interruption of domestic vectorial transmission had the largest impact on T. cruzi transmission and prevalence in all populations. Most of the gains were achieved within the first few years. Controlling vectorial transmission resulted in a 46.1-83.0% relative reduction in the number of new acute Chagas cases for a 50-100% interruption in domestic vector-host contact. Only controlling congenital transmission led to a 2.4-8.1% (30-100% interruption) relative reduction in the total number of new acute cases and reducing only transfusional transmission led to a 0.1-0.3% (30-100% reduction). Stopping all three forms of transmission resulted in 0.5 total transmission events over five years (compared to 5.0 with no interruption); interrupting all forms by 30% resulted in 3.4 events over five years per 2,000 persons. While reducing domestic vectorial, congenital, and transfusional transmission can successfully reduce transmission to humans (up to 82% in one year), achieving the 2020 goals would still result in 0.5 new acute cases per 2,000 over five years. Even if the goals are missed, major gains can be achieved within the first few years. Interrupting transmission should be combined with other efforts such as a vaccine or improved access to care, especially for the population of already infected individuals.

Branchial Cleft Cyst

PubMed Central

Nahata, Vaishali

2016-01-01

Branchial cleft cyst, sinuses, and fistulae are among the most commonly encountered congenital anomalies in pediatric otolaryngic practice. They can present difficulty in diagnosis and surgical management. Here, I report a case of 14-year-old boy who presented with asymptomatic, congenital swelling located just below the jawline in the lateral part of the neck. The lesion was excised surgically. Histopathology showed the cyst lined by squamous as well as columnar ciliated epithelium, which was a characteristic finding of branchial cleft cyst. The aim of presenting this case is its rarity. PMID:27904209

[Congenital neck mass. Diagnosis and treatment].

PubMed

Muñoz-Proto, F; Sarría-Echegaray, P; Epprecht-González, M P; Alba-Mesquida, J

2016-01-01

Congenital neck masses are a challenge for general practitioners and specialists. Although some of them are diagnosed in utero, most of them remain silent until complications appear in the adult age. The anatomical location, consistency and age are determinants in guiding the possible diagnosis. A midline infrahyoid mass may be a thyroglossal cyst, however a lateral neck mass is more possible to result in a brachial cyst. Complementary imaging studies are essential such as pathological tests like needle aspiration fine needle aspiration (FNA). Copyright © 2015. Publicado por Elsevier España, S.L.U.

MISSE-6 hardware

NASA Image and Video Library

2009-09-02

ISS020-E-037371 (1 Sept. 2009) --- A close-up view of a Materials International Space Station Experiment (MISSE-6) on the exterior of the Columbus laboratory is featured in this image photographed by a space walking astronaut during the STS-128 mission’s first session of extravehicular activity (EVA). MISSE collects information on how different materials weather in the environment of space. MISSE was later placed in Space Shuttle Discovery’s payload bay for its return to Earth. A portion of a payload bay door is visible in the background. The blackness of space and Earth’s horizon provide the backdrop for the scene.

Genetic epidemiology of tooth agenesis in Japan: a population- and family-based study.

PubMed

Machida, J; Nishiyama, T; Kishino, H; Yamaguchi, S; Kimura, M; Shibata, A; Tatematsu, T; Kamamoto, M; Yamamoto, K; Makino, S; Miyachi, H; Shimozato, K; Tokita, Y

2015-08-01

Tooth agenesis is one of the most common congenital anomalies in humans. However, the etiology of tooth agenesis remains largely unclear, as well as evidence base useful for genetic counseling. Therefore, we estimated the prevalence and sibling recurrence risk, and investigated agenetic patterns systematically. Tooth agenesis was classified into two subtypes: hypodontia (one to five missing teeth) and oligodontia (six or more missing teeth). The prevalence of these two subtypes were 6.8% [95% confidence interval (CI): 6.1-7.7%] and 0.1% (95% CI: 0.04-0.3%), respectively, and sibling recurrence risk of these were 24.5% (95% CI: 13.8-38.3%) and 43.8% (95% CI: 26.4-62.3%), respectively. This result suggests that the severe phenotype, oligodontia, might be mostly transmitted in a dominant fashion. Using a simple statistical modeling approach, our data were found to be consistent with a bilateral symmetry model, meaning that there was equal probability of missing teeth from the right and left sides. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Novel de novo pathogenic variant in the NR2F2 gene in a boy with congenital heart defect and dysmorphic features.

PubMed

Upadia, Jariya; Gonzales, Patrick R; Robin, Nathaniel H

2018-04-16

The NR2F2 gene plays an important role in angiogenesis and heart development. Moreover, this gene is involved in organogenesis in many other organs in mouse models. Variants in this gene have been reported in a number of patients with nonsyndromic atrioventricular septal defect, and in one patient with congenital heart defect and dysmorphic features. Here we report an 11-month-old Caucasian male with global developmental delay, dysmorphic features, coarctation of the aorta, and ventricular septal defect. He was later found to have a pathogenic mutation in the NR2F2 gene by whole exome sequencing. This is the second instance in which an NR2F2 mutation has been identified in a child with a congenital heart defect and other anomalies. This case suggests that some variants in NR2F2 may cause syndromic forms of congenital heart defect. © 2018 Wiley Periodicals, Inc.

Congenital Portosystemic Shunt: Our Experience

PubMed Central

Timpanaro, Tiziana; Passanisi, Stefano; Sauna, Alessandra; Trombatore, Claudia; Pennisi, Monica; Petrillo, Giuseppe; Smilari, Pierluigi; Greco, Filippo

2015-01-01

Introduction. Congenital portosystemic venous malformations are rare abnormalities in which the portal blood drains into a systemic vein and which are characterized by extreme clinical variability. Case Presentations. The authors present two case reports of a congenital extrahepatic portosystemic shunt (Type II). In the first patient, apparently nonspecific symptoms, such as headache and fatigue, proved to be secondary to hypoglycemic episodes related to the presence of a portosystemic shunt, later confirmed on imaging. During portal vein angiography, endovascular embolization of the portocaval fistula achieved occlusion of the anomalous venous tract. In the second patient, affected by Down's syndrome, the diagnosis of a portosystemic malformation was made by routine ultrasonography, performed to rule out concurrent congenital anomalies. Because of the absence of symptoms, we chose to observe this patient. Conclusions. These two case reports demonstrate the clinical heterogeneity of this malformation and the need for a multidisciplinary approach. As part of a proper workup, clinical evaluation must always be followed by radiographic diagnosis. PMID:25709849

A new technique for correction of simple congenital earlobe clefts: diametric hinge flaps method.

PubMed

Qing, Yong; Cen, Ying; Xu, Xuewen; Chen, Junjie

2013-06-01

The earlobe plays an important part in the aesthetic appearance of the auricle. Congenital cleft earlobe may vary considerably in severity from a simple notching to extensive tissue deficiency. Most patients with cleft earlobe require surgical correction because of abnormal appearance. In this article, a new surgical technique for correcting congenital simple cleft earlobe using diametric hinge flaps is introduced. We retrospectively reviewed 4 patients diagnosed with congenital cleft earlobe between 2008 and 2010. All of them received this new surgical method. The patients were followed up from 3 to 6 months. All patients attained relatively full bodied earlobes with smooth contours, inconspicuous scars, and found their reconstructed earlobes to be aesthetically satisfactory. One patient experienced hypoesthesia in the area operated on, but recovered 3 months later. No other complications were noted. This simple method not only makes full use of the surrounding tissues to reconstruct full bodied earlobes but also avoids small notch formation caused by the linear scar contraction sometimes seen when using more traditional methods.

A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy.

PubMed

Ortolano, Saida; Tarrío, Rosa; Blanco-Arias, Patricia; Teijeira, Susana; Rodríguez-Trelles, Francisco; García-Murias, María; Delague, Valerie; Lévy, Nicolas; Fernández, José M; Quintáns, Beatriz; Millán, Beatriz San; Carracedo, Angel; Navarro, Carmen; Sobrido, María-Jesús

2011-04-01

This study aimed to identify the genetic defect in a multigenerational family presenting an autosomal dominant myopathy with histological features of congenital fiber type disproportion. Linkage analysis and genetic sequencing identified, in all affected members of the family, the c.5807A>G heterozygous mutation in MYH7, which encodes the slow/β-cardiac myosin heavy chain. This mutation causes skeletal but not cardiac involvement. Myosin heavy chain expression pattern was also characterized by immunohistochemistry, western blot and q-PCR in muscle biopsies from two patients aged 25 and 62, respectively. While only congenital fiber type disproportion was observed in the younger patient, older patient's biopsy presented aggregates of slow myosin heavy chains, in fiber sub-sarcolemmal region. These clinico-pathologic findings suggest a novel phenotype within the emerging group of hereditary myosin myopathies, which in this family presents typical characteristics of congenital fiber type disproportion in early stages and later evolves to myosin storage myopathy. Copyright © 2011 Elsevier B.V. All rights reserved.

A case of recurrence of congenital ocular toxoplasmosis with frosted branch angiitis (ocular toxoplasmosis with frosted branch angiitis).

PubMed

Suzuki, Takahiro; Onouchi, Hiromi; Nakagawa, Yoshihiro; Oohashi, Hideki; Kaiken, Han; Kawai, Kenji

2010-12-20

To describe a case of recurrence of congenital ocular toxoplasmosis with frosted branch angiitis. A 24-year-old woman presented with hyperemia in her right eye. Medical history included epilepsy at age 14 and mild mental retardation. Iridocyclitis and vitreous opacity were observed in the right eye, and furthermore widespread retinal vessel sheathing due to frosted branch angiitis was seen. Acyclovir was initiated for acute retinal necrosis with frosted branch angiitis. One week later, serologic tests showed elevated toxoplasma antibody level and toxoplasma antibody IgG level, and a white retinal exudative lesion with unclear margins was noted. Therefore, acetylspiramycin and prednisolone were initiated for a recurrence of congenital ocular toxoplasmosis. After treatment, inflammation subsided, the exudative lesion shrank, and the frosted branch angiitis improved. We encountered a case of ocular toxoplasmosis due to recurrence of congenital toxoplasmosis with frosted branch angiitis. The clinical symptoms of ocular toxoplasmosis can be varied and the diagnosis should be kept in mind.

The maternal-age-associated risk of congenital heart disease is modifiable.

PubMed

Schulkey, Claire E; Regmi, Suk D; Magnan, Rachel A; Danzo, Megan T; Luther, Herman; Hutchinson, Alayna K; Panzer, Adam A; Grady, Mary M; Wilson, David B; Jay, Patrick Y

2015-04-09

Maternal age is a risk factor for congenital heart disease even in the absence of any chromosomal abnormality in the newborn. Whether the basis of this risk resides with the mother or oocyte is unknown. The impact of maternal age on congenital heart disease can be modelled in mouse pups that harbour a mutation of the cardiac transcription factor gene Nkx2-5 (ref. 8). Here, reciprocal ovarian transplants between young and old mothers establish a maternal basis for the age-associated risk in mice. A high-fat diet does not accelerate the effect of maternal ageing, so hyperglycaemia and obesity do not simply explain the mechanism. The age-associated risk varies with the mother's strain background, making it a quantitative genetic trait. Most remarkably, voluntary exercise, whether begun by mothers at a young age or later in life, can mitigate the risk when they are older. Thus, even when the offspring carry a causal mutation, an intervention aimed at the mother can meaningfully reduce their risk of congenital heart disease.

Surgical management of congenital saccular cysts of the larynx.

PubMed

Ward, R F; Jones, J; Arnold, J A

1995-09-01

Congenital saccular cysts of the larynx are unusual lesions that commonly present with respiratory obstruction in infants and children. The saccular cyst may result from an atresia of the laryngeal saccule orifice or may represent the retention of mucus in the collecting ducts of submucosal glands located around the ventricle. Traditionally, the treatment of the lesions has been endoscopic unroofing or marsupialization. Frequently, this modality requires multiple procedures as well as concomitant tracheotomy. There also have been reports of acquired subglottic stenosis. We have found that removal of the recurrent saccular cyst can be achieved relatively safely and effectively via a lateral cervical approach to the thyrohyoid membrane. We review our experience with four patients with congenital saccular cysts and detail the evaluation and surgical management of these lesions.

Successful Repair of Hypoplastic Left Heart Syndrome With Intact Atrial Septum, Congenital Diaphragm Hernia, and Anomalous Origin of Coronary Artery: Defying the Odds.

PubMed

Sathanandam, Shyam; Kumar, T K Susheel; Feliz, Alexander; Knott-Craig, Christopher J

2016-07-01

We report a case of an infant who was postnatally diagnosed with hypoplastic left heart syndrome and an intact atrial septum who underwent emergent atrial decompression followed by the Norwood operation. She was also found to have a congenital diaphragmatic hernia on the left side and a congenital eventration of the right diaphragm, both requiring surgical repair. She was later found to have an anomalous origin of the left circumflex coronary artery from the right pulmonary artery that was ligated at the time of the bilateral bidirectional Glenn operation. She is currently thriving at home, defying all odds. Copyright © 2016 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

Dental and craniofacial findings in eight miniature schnauzer dogs affected by myotonia congenita: preliminary results.

PubMed

Gracis, M; Keith, D; Vite, C H

2000-09-01

Myotonia is a clinical sign characterized by the delay of skeletal muscle relaxation following the cessation of a voluntary activity or the termination of an electrical or mechanical stimulus. Recently, Miniature Schnauzers with myotonia congenita associated with defective chloride ion conductance across the skeletal muscle membrane were identified. Congenital myotonia in these dogs appears to follow an autosomal recessive mode of inheritance. Craniofacial and dental findings of eight Miniature Schnauzer dogs with myotonia congenita are described in the present paper. These findings include: delayed dental eruption of both deciduous and permanent dentition: persistent deciduous dentition; unerupted or partially erupted permanent teeth: crowding and rotation of premolar and or incisor teeth: missing teeth: increased interproximal space between the maxillary fourth premolar and first molar teeth: decreased interproximal space between the maxillary canine and lateral incisor teeth: inability to fully close the mouth due to malocclusion: distoclusion: and, decreased mandibular range of motion. A long narrow skull with a flattened zygomatic arch and greater mandibular body curvature were also consistent findings in the affected dogs. The small number of dogs studied prevents conclusive statements about the origin of these abnormalities, however it is interesting that only 1 of 45 unaffected Miniature Schnauzer dogs showed similar traits.

The association between prune belly syndrome and dental anomalies: a case report

PubMed Central

2012-01-01

Background Prune belly syndrome is a rare condition produced by an early mesodermal defect that causes abdominal abnormalities. However, the literature indicates that disturbances related to ectodermal development may also be present. This is the first case report in the literature to suggest that dental abnormalities are part of the broad spectrum of clinical features of prune belly syndrome. Because the syndrome causes many serious medical problems, early diagnosis of abnormalities involving the primary and permanent dentitions are encouraged. Case presentation The authors report the clinical case of a 4-year-old Caucasian boy with prune belly syndrome. In addition to the triad of abdominal muscle deficiency, abnormalities of the gastrointestinal and urinary tracts, and cryptorchidism, a geminated mandibular right central incisor, agenesis of a mandibular permanent left incisor, and congenitally missing primary teeth (namely, the mandibular right and left lateral incisors) were noted. Conclusion This original case report about prune belly syndrome highlights the possibility that dental abnormalities are a part of the broad spectrum of clinical features of the syndrome. Therefore, an accurate intra-oral clinical examination and radiographic evaluation are required for patients with this syndrome in order to provide an early diagnosis of abnormalities involving the primary and permanent dentitions. PMID:23249412

Congenital anophthalmia: current concepts in management.

PubMed

Quaranta-Leoni, Francesco M

2011-09-01

The introduction of hydrogel socket and orbital expanders has modified the approach towards the rehabilitation of congenital anophthalmia. This study highlights the most recent advances for the treatment of congenital anophthalmia based on personal experience and the review of recent literature. Hydrogel socket expanders may be positioned as an out-patient procedure with topical anaesthesia, using cyanoacrylate glue as opposed to temporary tarsorraphy. Increased orbital volume has been confirmed by computed tomography (CT) scan or magnetic resonance imaging (MRI) following early dermis-fat graft in children with congenital anophthalmia. An orbital tissue expander made of an inflatable silicone globe sliding on a titanium T-plate and secured to the lateral orbital rim appears to be effective to stimulate orbital bone growth and development. Congenital anophthalmia has a complex cause with both genetic and environmental factors involved. The ideal treatment is simultaneous expansion of the eyelids, socket and orbital bones, and it should begin after birth as soon as possible. Socket expansion with self-inflating expanders is a useful technique, although custom-made conformers may produce similar results. Dermis-fat grafts are another reasonable option as an orbital implant, following adequate lid and socket expansion.

Congenital diaphragmatic hernia in neonate: a retrospective study about 28 observations.

PubMed

Khemakhem, Rachid; Haggui, Basma; Rahay, Houda; Nouira, Faouzi; Charieg, Awatef; Ghorbel, Sofiane; Trifa, Mahdi; Jlidi, Said; Khalifa, Sonia Ben; Chaouachi, Beji

2012-01-01

Our purpose was to review our experience with congenital diaphragmatic hernia emphasizing diagnosis, management, and outcome. We conducted a retrospective review of all cases of babies with congenital diaphragmatic hernia diagnosed and treated in our centre from 1998 to 2010. There were 28 congenital diaphragmatic hernia cases, 13 girls and 15 boys with a mean weight birth of 3 kg. Three patients (10, 6% of cases) died within a few hours after admission. In the remaining cases, surgery was performed after a stabilization period of 2 days. The diaphragmatic defect was sitting in the posterolateral left in 23 cases and right in 2 cases. Its dimensions were on average 4,5 cm, tow cases of agenesis of the cupola were seen and required the placement of gortex prosthesis. The remaining cases are treated by direct closure of defect. Postoperative course was marked by an early death in context of respiratory distress in six cases and later with sepsis in tow cases. The outcome was favourable in 17 cases (60, 7%), despite the occurrence of sepsis in four cases and evisceration in two cases. Congenital diaphragmatic hernia remains a serious disease with high mortality and morbidity despite advances in prenatal diagnosis and neonatal resuscitation.

The role of diclofenack on inducing of aplasia cutis congenita: a case report.

PubMed

Pajaziti, Laura; Rexhepi, Syzana; Shatri-Muça, Ylfete; Ferizi, Mybera

2009-10-12

Aplasia cutis congenita is a disorder where e newborn child is missing skin from certain areas. It is a rare condition with no particular race or sex more at risk. May occur by itself or be associated with other physical syndromes or disorders. A classification system exists for aplasia cutis congenital consisting of 9 groups, based on the number and location of the skin defects and the presence or absence of other malformations. Causes of aplasia congenital could be heredity, teratogenic substances, placental infarcts, intrauterine infections, ectodermal dysplasias etc. Diagnosis is made based on the clinical findings. Prognosis depends of the other organs malfunction level and lesions size. Our case was an 22 months old Albanian girl, who was recommended to dermatology for a consultation by a pediatric surgeon because of the changes she had on her parietal part of the scalp with missing hair areas. The child has stenosis congenita ani and to her was installed stoma. In order to investigate other accompanied anomalies of the disease, there are made specific consults by neurologist, orthopedist, cardiologist, nephrologists and citogenetics. It was found out a minor visual discoordination, Sy Floppy, Digiti V superductus pedis bill. Laxitas articularum generalisata. It was a great challenge for us to find out that during the first trimester of the pregnancy (unplanned pregnancy), her mother used Diclofenac. Since there is limited information regarding to teratogenic effects of diclofenac, we considered it interesting to present this case.

The role of diclofenack on inducing of aplasia cutis congenita: a case report

PubMed Central

2009-01-01

Background Aplasia cutis congenita is a disorder where e newborn child is missing skin from certain areas. It is a rare condition with no particular race or sex more at risk. May occur by itself or be associated with other physical syndromes or disorders. A classification system exists for aplasia cutis congenital consisting of 9 groups, based on the number and location of the skin defects and the presence or absence of other malformations. Causes of aplasia congenital could be heredity, teratogenic substances, placental infarcts, intrauterine infections, ectodermal dysplasias etc. Diagnosis is made based on the clinical findings. Prognosis depends of the other organs malfunction level and lesions size. Case report Our case was an 22 months old Albanian girl, who was recommended to dermatology for a consultation by a pediatric surgeon because of the changes she had on her parietal part of the scalp with missing hair areas. The child has stenosis congenita ani and to her was installed stoma. In order to investigate other accompanied anomalies of the disease, there are made specific consults by neurologist, orthopedist, cardiologist, nephrologists and citogenetics. Conclusion It was found out a minor visual discoordination, Sy Floppy, Digiti V superductus pedis bill. Laxitas articularum generalisata. It was a great challenge for us to find out that during the first trimester of the pregnancy (unplanned pregnancy), her mother used Diclofenac. Since there is limited information regarding to teratogenic effects of diclofenac, we considered it interesting to present this case. PMID:19946521

Does infantile abduction deficit indicate duane retraction syndrome until disproven?

PubMed

Kim, Jae Hyoung; Hwang, Jeong-Min

2014-11-01

Duane retraction syndrome consists of abduction deficit and palpebral fissure narrowing, upshoots, or downshoots on adduction. Infants with abduction deficit should be considered to have Duane retraction syndrome until disproven, because congenital abducens nerve palsy is extremely rare. The abducens nerve on the affected side is absent in type 1 Duane retraction syndrome and in some type 3 patients. The authors present a 7-month-old girl who showed limitation of abduction simulating Duane retraction syndrome. High-resolution magnetic resonance imaging (MRI) revealed atrophic lateral rectus and present abducens nerve. This report is important because this case showed that congenital abducens nerve palsy exists, although it is extremely rare, and high-resolution MRI could be pivotal for the differentiation of Duane retraction syndrome and congenital abducens nerve palsy in infancy. © The Author(s) 2014.

A prospective randomized controlled trial of two-window versus solo-window technique by lateral sinus floor elevation in atrophic posterior maxilla: Results from a 1-year observational phase.

PubMed

Yu, Huajie; Qiu, Lixin

2017-10-01

Implant failures are more common when multiple missing posterior teeth need lateral sinus floor elevation owing to inadequate tissue maturation after grafting. Effects of lateral window dimensions on vital bone formation have rarely been compared. To compare endo-sinus bone formation between two- and solo-window techniques to rehabilitate multiple missing posterior teeth that need substantial augmentation. Patients with severely atrophic posterior maxilla were randomized to receive lateral sinus floor elevation via solo or two bony windows. Bone core specimens harvested from lateral aspect of the augmentation sites were histomorphometrically analyzed. Proportions of mineralized bone (MB), bone substitute materials (BS), and nonmineralized tissue (NMT) were quantified. Twenty-one patients underwent 23 maxillary sinus augmentations. One patient in each group dropped out during the follow-up period. Lateral window dimensions were 81.65 ± 4.59 and 118.04 ± 19.53 mm 2 in the test and control groups, respectively. Histomorphometric analysis revealed mean MB of 42.32% ± 13.07% and 26.00% ± 15.23%, BS of 40.34% ± 9.52% and 60.03% ± 10.13%, and NMT of 18.14% ± 14.24% and 14.75% ± 10.38% in test and control groups, respectively, with significant differences. The two-window technique could facilitate faster maturation and consolidation of the grafted volume and is an effective alternative for rehabilitation of severely atrophic posterior maxilla with multiple missing posterior teeth. © 2017 Wiley Periodicals, Inc.

Metabolic pathway reconstruction of eugenol to vanillin bioconversion in Aspergillus niger

PubMed Central

Srivastava, Suchita; Luqman, Suaib; Khan, Feroz; Chanotiya, Chandan S; Darokar, Mahendra P

2010-01-01

Identification of missing genes or proteins participating in the metabolic pathways as enzymes are of great interest. One such class of pathway is involved in the eugenol to vanillin bioconversion. Our goal is to develop an integral approach for identifying the topology of a reference or known pathway in other organism. We successfully identify the missing enzymes and then reconstruct the vanillin biosynthetic pathway in Aspergillus niger. The procedure combines enzyme sequence similarity searched through BLAST homology search and orthologs detection through COG & KEGG databases. Conservation of protein domains and motifs was searched through CDD, PFAM & PROSITE databases. Predictions regarding how proteins act in pathway were validated experimentally and also compared with reported data. The bioconversion of vanillin was screened on UV-TLC plates and later confirmed through GC and GC-MS techniques. We applied a procedure for identifying missing enzymes on the basis of conserved functional motifs and later reconstruct the metabolic pathway in target organism. Using the vanillin biosynthetic pathway of Pseudomonas fluorescens as a case study, we indicate how this approach can be used to reconstruct the reference pathway in A. niger and later results were experimentally validated through chromatography and spectroscopy techniques. PMID:20978605

EDAR-induced hypohidrotic ectodermal dysplasia: a clinical study on signs and symptoms in individuals with a heterozygous c.1072C > T mutation

PubMed Central

2014-01-01

Background Mutations in the EDAR-gene cause hypohidrotic ectodermal dysplasia, however, the oral phenotype has been described in a limited number of cases. The aim of the present study was to clinically describe individuals with the c.1072C > T mutation (p. Arg358X) in the EDAR gene with respect to dental signs and saliva secretion, symptoms from other ectodermal structures and to assess orofacial function. Methods Individuals in three families living in Sweden, where some members had a known c.1072C > T mutation in the EDAR gene with an autosomal dominant inheritance (AD), were included in a clinical investigation on oral signs and symptoms and self-reported symptoms from other ectodermal structures (n = 37). Confirmation of the c.1072C > T mutation in the EDAR gene were performed by genomic sequencing. Orofacial function was evaluated with NOT-S. Results The mutation was identified in 17 of 37 family members. The mean number of missing teeth due to agenesis was 10.3 ± 4.1, (range 4–17) in the mutation group and 0.1 ± 0.3, (range 0–1) in the non-mutation group (p < 0.01). All individuals with the mutation were missing the maxillary lateral incisors and one or more of the mandibular incisors; and 81.3% were missing all four. Stimulated saliva secretion was 0.9 ± 0.5 ml/min in the mutation group vs 1.7 ± 0.6 ml/min in the non-mutation group (p < 0.01). Reduced ability to sweat was reported by 82% in the mutation group and by 20% in the non-mutation group (p < 0.01). The mean NOT-S score was 3.0 ± 1.9 (range 0–6) in the mutation group and 1.5 ± 1.1 (range 0–5) in the non-mutation group (p < 0.01). Lisping was present in 56% of individuals in the mutation group. Conclusions Individuals with a c.1072C > T mutation in the EDAR-gene displayed a typical pattern of congenitally missing teeth in the frontal area with functional consequences. They therefore have a need for special attention in dental care, both with reference to tooth agenesis and low salivary secretion with an increased risk for caries. Sweating problems were the most frequently reported symptom from other ectodermal structures. PMID:24884697

Curiosity killed the cat: no evidence of an association between cat ownership and psychotic symptoms at ages 13 and 18 years in a UK general population cohort.

PubMed

Solmi, F; Hayes, J F; Lewis, G; Kirkbride, J B

2017-07-01

Congenital or early life infection with Toxoplasma gondii has been implicated in schizophrenia aetiology. Childhood cat ownership has been hypothesized as an intermediary marker of T. gondii infection and, by proxy, as a risk factor for later psychosis. Evidence supporting this hypothesis is, however, limited. We used birth cohort data from the Avon Longitudinal Study of Parents and Children (ALSPAC) to investigate whether cat ownership in pregnancy and childhood (ages 4 and 10 years) was associated with psychotic experiences (PEs) in early (age 13, N = 6705) and late (age 18, N = 4676) adolescence, rated from semi-structured interviews. We used logistic regression to examine associations between cat ownership and PEs, adjusting for several sociodemographic and socioeconomic factors, household characteristics and dog ownership. Missing data were handled via multiple imputation. Cat ownership during pregnancy was not associated with PEs at age 13 years [adjusted odds ratio (OR) 1.15, 95% confidence interval (CI) 0.97-1.35] or 18 years (OR 1.08, 95% CI 0.86-1.35). Initial univariable evidence that cat ownership at ages 4 and 10 years was associated with PEs at age 13 years did not persist after multivariable adjustment (4 years: OR 1.18, 95% CI 0.94-1.48; 10 years: OR 1.12, 95% CI 0.92-1.36). There was no evidence that childhood cat ownership was associated with PEs at age 18 years. While pregnant women should continue to avoid handling soiled cat litter, given possible T. gondii exposure, our study strongly indicates that cat ownership in pregnancy or early childhood does not confer an increased risk of later adolescent PEs.

Curiosity killed the cat: No evidence of an association between cat ownership and psychotic symptoms at age 13 and 18 years in a UK general population cohort

PubMed Central

Solmi, F.; Hayes, J.F; Lewis, G.; Kirkbride, J.B

2018-01-01

Background Congenital or early life infection with Toxoplasma Gondii has been implicated in schizophrenia aetiology. Childhood cat ownership has been hypothesised as an intermediary marker of T. Gondii infection and, by proxy, as a risk factor for later psychosis. Evidence supporting this hypothesis is, however, limited. Method We used birth cohort data from the Avon Longitudinal Study of Parents and Children (ALSPAC) to investigate whether cat ownership in pregnancy and childhood (4, 10 years old) was associated with psychotic experiences (PEs) in early (age 13; N=6,705) and late (age 18; N=4,676) adolescence, rated from semi-structured interviews. We used logistic regression to examine associations between cat ownership and PEs, adjusting for several sociodemographic and socioeconomic factors, household characteristics and dog ownership. Missing data were handled via multiple imputation. Results Cat ownership during pregnancy was not associated with PEs at age 13 (adjusted odds ratio [OR]: 1.15, 95% confidence interval [CI]: 0.97-1.35) or 18 years (OR: 1.08, 95%CI: 0.86-1.35). Initial univariable evidence that cat ownership at 4 and 10 years was associated with PEs at age 13 years did not persist after multivariable adjustment (4 years OR: 1.18, 95%CI: 0.94-1.48; 10 years OR 1.12, 95%CI: 0.92; 1.36). There was no evidence that childhood cat ownership was associated with PEs at 18 years old. Conclusions While pregnant women should continue to avoid handling soiled cat litter, given possible T Gondii exposure, our study strongly indicates that cat ownership in pregnancy or early childhood does not confer an increased risk of later adolescent PEs. PMID:28222824

Origins of thalamic and cortical projections to the posterior auditory field in congenitally deaf cats.

PubMed

Butler, Blake E; Chabot, Nicole; Kral, Andrej; Lomber, Stephen G

2017-01-01

Crossmodal plasticity takes place following sensory loss, such that areas that normally process the missing modality are reorganized to provide compensatory function in the remaining sensory systems. For example, congenitally deaf cats outperform normal hearing animals on localization of visual stimuli presented in the periphery, and this advantage has been shown to be mediated by the posterior auditory field (PAF). In order to determine the nature of the anatomical differences that underlie this phenomenon, we injected a retrograde tracer into PAF of congenitally deaf animals and quantified the thalamic and cortical projections to this field. The pattern of projections from areas throughout the brain was determined to be qualitatively similar to that previously demonstrated in normal hearing animals, but with twice as many projections arising from non-auditory cortical areas. In addition, small ectopic projections were observed from a number of fields in visual cortex, including areas 19, 20a, 20b, and 21b, and area 7 of parietal cortex. These areas did not show projections to PAF in cats deafened ototoxically near the onset of hearing, and provide a possible mechanism for crossmodal reorganization of PAF. These, along with the possible contributions of other mechanisms, are considered. Copyright © 2016 Elsevier B.V. All rights reserved.

Demographic features of subjects with congenital glaucoma

PubMed Central

Tamçelik, Nevbahar; Atalay, Eray; Bolukbasi, Selim; Çapar, Olgu; Ozkok, Ahmet

2014-01-01

Context: Congenital glaucoma is a potentially blinding ocular disease of the childhood. Identification of the possible associated risk factors and may be helpful for prevention or early detection of this public health problem. Aims: To demonstrate the demographic features of congenital glaucoma subjects. Setting and Design: The charts of congenital glaucoma patients referred to Tamcelik Glaucoma Center were retrospectively reviewed through the dates of 2000 and 2013. Materials and Methods: Analyzed data included diagnosis, age at first presentation, symptoms at first presentation, laterality of the disease, sex, presence of consanguinity, family history of congenital glaucoma, maturity of the fetus at delivery, and maternal age at conception. Statistical Analysis Used: Statistical Package for Social Sciences (SPSS) version 19.0 by IBM (SPSS Inc, Chicago, Illinois, USA) was used to compare the mean of continuous variables with Student's t-test and analysis of variance (ANOVA) and χ2 test was used to test differences in proportions of categorical variables. Results: The data of 600 eyes of 311 patients were analyzed. The distribution of primary and secondary congenital glaucoma among the patients were 63.3% (n = 197) and 36.7% (n = 114), respectively. Of the 311 patients, 57.2% (n = 178) were male and 42.8% (n = 133) were female. The overall frequency of bilateral disease was 92.3% (n = 287). Overall rate of consanguinity and positive family history was 45.3% (n = 141) and 21.2% (n = 66), respectively. Conclusions: Bilateral disease in this study was more common than previously reported studies. Positive family history was more frequent in primary congenital glaucoma although not statistically significant. PMID:24881602

Investigation of Metronidazole Use during Pregnancy and Adverse Birth Outcomes

PubMed Central

Koss, Catherine A.; Baras, Dana C.; Lane, Sandra D.; Aubry, Richard; Marcus, Michele; Markowitz, Lauri E.

2012-01-01

To assess whether treatment with metronidazole during pregnancy is associated with preterm birth, low birth weight, or major congenital anomalies, we conducted chart reviews and an analysis of electronic data from a cohort of women delivering at an urban New York State hospital. Of 2,829 singleton/mother pairs, 922 (32.6%) mothers were treated with metronidazole for clinical indications, 348 (12.3%) during the first trimester of pregnancy and 553 (19.5%) in the second or third trimester. There were 333 (11.8%) preterm births, 262 (9.3%) infants of low birth weight, and 52 infants (1.8%) with congenital anomalies. In multivariable analysis, no association was found between metronidazole treatment and preterm birth (odds ratio [OR], 1.02 [95% confidence interval [CI], 0.80 to 1.32]), low birth weight (OR, 1.05 [95% CI, 0.77 to 1.43]), or treatment in the first trimester and congenital anomalies (OR, 0.86 [0.30 to 2.45]). We found no association between metronidazole treatment during the first or later trimesters of pregnancy and preterm birth, low birth weight, or congenital anomalies. PMID:22751543

Maxillary growth in a congenital cleft palate canine model for surgical research.

PubMed

Paradas-Lara, Irene; Casado-Gómez, Inmaculada; Martín, Conchita; Martínez-Sanz, Elena; López-Gordillo, Yamila; González, Pablo; Rodríguez-Bobada, Cruz; Chamorro, Manuel; Arias, Pablo; Maldonado, Estela; Ortega, Ricardo; Berenguer, Beatriz; Martínez-Álvarez, Concepción

2014-01-01

We have recently presented the Old Spanish Pointer dog, with a 15-20% spontaneous congenital cleft palate rate, as a unique experimental model of this disease. This study aimed to describe the cleft palate of these dogs for surgical research purposes and to determine whether congenital cleft palate influences maxillofacial growth. Seven newborn Old Spanish Pointer dogs of both sexes, comprising a cleft palate group (n = 4) and a normal palate group (n = 3), were fed using the same technique. Macroscopic photographs and plaster casts from the palate, lateral radiographs and computer tomograms of the skull were taken sequentially over 41 weeks, starting at week 5. The cleft morphology, the size and the tissue characteristics in these dogs resembled the human cleft better than current available animal models. During growth, the cleft width varies. Most of the transverse and longitudinal measures of the palate were statistically lower in the cleft palate group. The cleft palate group showed hypoplasia of the naso-maxillary complex. This model of congenital cleft palate seems suitable for surgical research purposes. A reduced maxillofacial pre- and post-natal development is associated to the congenital cleft palate in the Old Spanish Pointer dog. Copyright © 2013 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

Congenital Splenic Cyst Treated with Percutaneous Sclerosis Using Alcohol

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

Anon, Ramon; Guijarro, Jorge; Amoros, Cirilo

We report a case of successful percutaneous treatment of a congenital splenic cyst using alcohol as the sclerosing agent. A 14-year-old female adolescent presented with a nonsymptomatic cystic mass located in the spleen that was believed to be congenital. After ultrasonography, a drainage catheter was placed in the cavity. About 250 ml of serous liquid was extracted and sent for microbiologic and pathologic studies to rule out an infectious or malignant origin. Immediately afterwards, complete drainage and local sclerotherapy with alcohol was performed. This therapy was repeated 8 days later, after having observed 60 ml of fluid in the drainagemore » bag. One year after treatment the cyst has practically disappeared. We believe that treatment of splenic cyst with percutaneous puncture, ethanolization, and drainage is a valid option and it does not rule out surgery if the conservative treatment fails.« less

Lumbosacral Transitional Vertebrae and Its Prevalence in the Australian Population

PubMed Central

French, Heath D.; Somasundaram, Arjuna J.; Schaefer, Nathan R.; Laherty, Richard W.

2014-01-01

Study Design Retrospective cohort study. Objective Lumbosacral transitional vertebrae (LSTV) are a common congenital anomaly, and they can be accurately identified on anteroposterior (AP) radiographs of the lumbosacral spine. This study attempts to determine the prevalence of this congenital anomaly and to increase awareness among all clinicians to reduce the risk of surgical and procedural errors in patients with LSTV. Methods A retrospective review of 5,941 AP and lateral lumbar radiographs was performed. Transitional vertebrae were identified and categorized under the Castellvi classification. Results The prevalence of LSTV in the study population was 9.9%. Lumbarized S1 and sacralized L5 were seen in 5.8 and 4.1% of patients, respectively. Conclusion LSTV are a common normal variant and can be a factor in spinal surgery at incorrect levels. It is essential that all clinicians are aware of this common congenital anomaly. PMID:25396103

[Pulse oximetry screening of critical congenital heart defects in the neonatal period. The Spanish National Neonatal Society recommendation].

PubMed

Sánchez Luna, Manuel; Pérez Muñuzuri, Alejandro; Sanz López, Ester; Leante Castellanos, José Luis; Benavente Fernández, Isabel; Ruiz Campillo, César W; Sánchez Redondo, M Dolores; Vento Torres, Máximo; Rite Gracia, Segundo

2018-02-01

Due to its severity, as well as the consequences of a late diagnosis, critical congenital heart defects (CCHD) represent a challenging situation, making an early diagnosis necessary and ideally before symptoms appear when circulatory collapse or death of the newborn can occur. Due to this, a prenatal and very early postnatal diagnosis is very important. Prenatal ultrasound screening and physical examination of the newborn can miss a considerable number of CCHD cases. Pulse oximetry screening has been demonstrated to be an effective, non-invasive, inexpensive, and well accepted tool in the early diagnosis of CCHD. The Spanish National Society of Neonatology, through its Standards Committee, and based on the current evidence, recommend the implementation of pulse oximetry screening of CCHD in Spain, and then to offer the best therapy possible to these newborn infants. Copyright © 2017 Asociación Española de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

Congenital myopathy associated with the triadin knockout syndrome

PubMed Central

Redhage, Keeley R.; Tester, David J.; Ackerman, Michael J.; Selcen, Duygu

2017-01-01

Objective: Triadin is a component of the calcium release complex of cardiac and skeletal muscle. Our objective was to analyze the skeletal muscle phenotype of the triadin knockout syndrome. Methods: We performed clinical evaluation, analyzed morphologic features by light and electron microscopy, and immunolocalized triadin in skeletal muscle. Results: A 6-year-old boy with lifelong muscle weakness had a triadin knockout syndrome caused by compound heterozygous null mutations in triadin. Light microscopy of a deltoid muscle specimen shows multiple small abnormal spaces in all muscle fibers. Triadin immunoreactivity is absent from type 1 fibers and barely detectable in type 2 fibers. Electron microscopy reveals focally distributed dilation and degeneration of the lateral cisterns of the sarcoplasmic reticulum and loss of the triadin anchors from the preserved lateral cisterns. Conclusions: Absence of triadin in humans can result in a congenital myopathy associated with profound pathologic alterations in components of the sarcoplasmic reticulum. Why only some triadin-deficient patients develop a skeletal muscle phenotype remains an unsolved question. PMID:28202702

The Impact of Early Life Stress on Growth and Cardiovascular Risk: A Possible Example for Autonomic Imprinting?

PubMed

Buchhorn, Reiner; Meint, Sebastian; Willaschek, Christian

2016-01-01

Early life stress is imprinting regulatory properties with life-long consequences. We investigated heart rate variability in a group of small children with height below the third percentile, who experienced an episode of early life stress due to heart failure or intra uterine growth retardation. These children appear to develop autonomic dysfunction in later life. Compared to the healthy control group heart rate variability (HRV) is reduced on average in a group of 101 children with short stature. Low HRV correlates to groups of children born small for gestational age (SGA), children with cardiac growth failure and children with congenital syndromes, but not to those with constitutional growth delay (CGD), who had normal HRV. Reduced HRV indicated by lower RMSSD and High Frequency (HF)-Power is indicating reduced vagal activity as a sign of autonomic imbalance. It is not short stature itself, but rather the underlying diseases that are the cause for reduced HRV in children with height below the third percentile. These high risk children-allocated in the groups with an adverse autonomic imprinting in utero or infancy (SGA, congenital heart disease and congenital syndromes)-have the highest risk for 'stress diseases' such as cardiovascular disease in later life. The incidence of attention deficit disorder is remarkably high in our group of short children.

The Impact of Early Life Stress on Growth and Cardiovascular Risk: A Possible Example for Autonomic Imprinting?

PubMed Central

Buchhorn, Reiner; Meint, Sebastian

2016-01-01

Introduction Early life stress is imprinting regulatory properties with life-long consequences. We investigated heart rate variability in a group of small children with height below the third percentile, who experienced an episode of early life stress due to heart failure or intra uterine growth retardation. These children appear to develop autonomic dysfunction in later life. Results Compared to the healthy control group heart rate variability (HRV) is reduced on average in a group of 101 children with short stature. Low HRV correlates to groups of children born small for gestational age (SGA), children with cardiac growth failure and children with congenital syndromes, but not to those with constitutional growth delay (CGD), who had normal HRV. Reduced HRV indicated by lower RMSSD and High Frequency (HF)-Power is indicating reduced vagal activity as a sign of autonomic imbalance. Conclusion It is not short stature itself, but rather the underlying diseases that are the cause for reduced HRV in children with height below the third percentile. These high risk children—allocated in the groups with an adverse autonomic imprinting in utero or infancy (SGA, congenital heart disease and congenital syndromes)—have the highest risk for ‘stress diseases’ such as cardiovascular disease in later life. The incidence of attention deficit disorder is remarkably high in our group of short children. PMID:27861527

Compensatory Growth of Congenital Solitary Kidneys in Pigs Reflects Increased Nephron Numbers Rather Than Hypertrophy

PubMed Central

van Vuuren, Stefan H.; Sol, Chalana M.; Broekhuizen, Roel; Lilien, Marc R.; Oosterveld, Michiel J. S.; Nguyen, Tri Q.

2012-01-01

Background Patients with unilateral MultiCystic Kidney Dysplasia (MCKD) or unilateral renal agenesis (URA) have a congenital solitary functioning kidney (CSFK) that is compensatory enlarged. The question whether this enlargement is due to increased nephron numbers and/or to nephron hypertrophy is unresolved. This question is of utmost clinical importance, since hypertrophy is associated with a risk of developing hypertension and proteinuria later in life with consequent development of CKD and cardiovascular disease. Methodology/Principal Findings In a cohort of 32,000 slaughter pigs, 7 congenital solitary functioning kidneys and 7 control kidneys were identified and harvested. Cortex volume was measured and with a 3-dimensional stereologic technique the number and volume of glomeruli was determined and compared. The mean total cortex volume was increased by more than 80% and the mean number of glomeruli per kidney was 50% higher in CSFKs than in a single control kidney, equaling 75% of the total nephron number in both kidneys of control subjects. The mean total glomerular volume in the CSFKs was not increased relative to the controls. Conclusions/Significance Thus, in pigs, compensatory enlargement of a CSFK is based on increased nephron numbers. Extrapolation of these findings to the human situation suggests that patients with a CSFK might not be at increased risk for developing hyperfiltration-associated renal and cardiovascular disease in later life due to a lower nephron number. PMID:23185419

Simulator Evaluation of Airborne Information for Lateral Spacing (AILS) Concept

NASA Technical Reports Server (NTRS)

Abbott, Terence S.; Elliott, Dawn M.

2001-01-01

The Airborne Information for Lateral Spacing (AILS) concept is designed to support independent parallel approach operations to runways spaced as close as 2500 ft. This report describes the AILS operational concept and the results of a ground-based flight simulation experiment of one implementation of this concept. The focus of this simulation experiment was to evaluate pilot performance, pilot acceptability, and minimum miss-distances for the rare situation in which all aircraft oil one approach intrudes into the path of an aircraft oil the other approach. Results from this study showed that the design-goal mean miss-distance of 1200 ft to potential collision situations was surpassed with an actual mean miss-distance of 2236 ft. Pilot reaction times to the alerting system, which was an operational concern, averaged 1.11 sec, well below the design-goal reaction time 2.0 sec.These quantitative results and pilot subjective data showed that the AILS concept is reasonable from an operational standpoint.

Pragmatic criteria of the definition of neonatal near miss: a comparative study.

PubMed

Kale, Pauline Lorena; Jorge, Maria Helena Prado de Mello; Laurenti, Ruy; Fonseca, Sandra Costa; Silva, Kátia Silveira da

2017-12-04

The objective of this study was to test the validity of the pragmatic criteria of the definitions of neonatal near miss, extending them throughout the infant period, and to estimate the indicators of perinatal care in public maternity hospitals. A cohort of live births from six maternity hospitals in the municipalities of São Paulo, Niterói, and Rio de Janeiro, Brazil, was carried out in 2011. We carried out interviews and checked prenatal cards and medical records. We compared the pragmatic criteria (birth weight, gestational age, and 5' Apgar score) of the definitions of near miss of Pileggi et al., Pileggi-Castro et al., Souza et al., and Silva et al. We calculated sensitivity, specificity (gold standard: infant mortality), percentage of deaths among newborns with life-threatening conditions, and rates of near miss, mortality, and severe outcomes per 1,000 live births. A total 7,315 newborns were analyzed (completeness of information > 99%). The sensitivity of the definition of Pileggi-Castro et al. was higher, resulting in a higher number of cases of near miss, Souza et al. presented lower value, and Pileggi et al. and de Silva et al. presented intermediate values. There is an increase in sensitivity when the period goes from 0-6 to 0-27 days, and there is a decrease when it goes to 0-364 days. Specificities were high (≥ 97%) and above sensitivities (54% to 77%). One maternity hospital in São Paulo and one in Niterói presented, respectively, the lowest and highest rates of infant mortality, near miss, and frequency of births with life-threatening conditions, regardless of the definition. The definitions of near miss based exclusively on pragmatic criteria are valid and can be used for monitoring purposes. Based on the perinatal literature, the cutoff points adopted by Silva et al. were more appropriate. Periodic studies could apply a more complete definition, incorporating clinical, laboratory, and management criteria, including congenital anomalies predictive of infant mortality.

Vesicular glutamate transporters in the lateral geniculate nucleus: expression of VGLUT2 by retinal terminals.

PubMed

Land, Peter W; Kyonka, E; Shamalla-Hannah, L

2004-01-23

We used immunohistochemistry to localize vesicular glutamate transporters VGLUT1 and VGLUT2 in the rat lateral geniculate nucleus. The lateral geniculate nucleus is intensely immunoreactive for both transporters. Monocular eye removal abolished staining for VGLUT2 in a pattern corresponding to the distribution of terminals from the missing eye, without affecting distribution of VGLUT1 immunoreactivity. These data indicate retinal ganglion cells are the source of VGLUT2-containing synapses in the lateral geniculate nucleus.

Dental and maxillofacial characteristics of six Japanese individuals with ectrodactyly-ectodermal dysplasia-clefting syndrome.

PubMed

Okamura, Erika; Suda, Naoto; Baba, Yoshiyuki; Fukuoka, Hiroki; Ogawa, Takuya; Ohkuma, Mizue; Ahiko, Nozomi; Yasue, Akihiro; Tengan, Toshimoto; Shiga, Momotoshi; Tsuji, Michiko; Moriyama, Keiji

2013-03-01

Objective : Ectrodactyly-ectodermal dysplasia-clefting syndrome is a congenital anomaly characterized by ectodermal dysplasia, ectrodactyly, cleft lip and palate, and lacrimal duct anomalies. Because this syndrome is frequently accompanied by a congenital lack of teeth, narrow palate, and malocclusion, comprehensive orthodontic intervention is required. Design : To highlight the specific dental and maxillofacial characteristics of ectrodactyly-ectodermal dysplasia-clefting syndrome, six Japanese individuals diagnosed with the syndrome are described here. Patients : The subjects consisted of two boys and four girls (age range, 6.0 to 13.9 years) diagnosed with ectrodactyly-ectodermal dysplasia-clefting syndrome by medical and dental specialists. Their conditions included ectodermal dysplasia (hypodontia, microdontia, enamel hypoplasia, and abnormalities in hair and nails), cleft lip and/or palate, and ectrodactyly. Cephalograms, panoramic x-rays, and dental casts were taken; systemic complications were recorded at the first visit to our dental hospital. Results : All individuals had severe oligodontia with 9 to 18 missing teeth. The missing teeth were mainly maxillary and mandibular incisors and second bicuspids, arranged in a symmetrical manner. Cephalometric analysis showed retruded and short maxilla due to cleft lip and/or palate. It is interesting that all individuals showed a characteristically shaped mandibular symphysis with a retruded point B. It is likely that this unusual symphyseal morphology is due to the lack of mandibular incisors. Conclusions : This study demonstrates the presence of severe oligodontia in the incisal and premolar regions and describes a characteristic maxillary and mandibular structure in Japanese individuals with ectrodactyly-ectodermal dysplasia-clefting syndrome.

Estimated number of infants detected and missed by critical congenital heart defect screening.

PubMed

Ailes, Elizabeth C; Gilboa, Suzanne M; Honein, Margaret A; Oster, Matthew E

2015-06-01

In 2011, the US Secretary of Health and Human Services recommended universal screening of newborns for critical congenital heart defects (CCHDs), yet few estimates of the number of infants with CCHDs likely to be detected through universal screening exist. Our objective was to estimate the number of infants with nonsyndromic CCHDs in the United States likely to be detected (true positives) and missed (false negatives) through universal newborn CCHD screening. We developed a simulation model based on estimates of birth prevalence, prenatal diagnosis, late detection, and sensitivity of newborn CCHD screening through pulse oximetry to estimate the number of true-positive and false-negative nonsyndromic cases of the 7 primary and 5 secondary CCHD screening targets identified through screening. We estimated that 875 (95% uncertainty interval [UI]: 705-1060) US infants with nonsyndromic CCHDs, including 470 (95% UI: 360-585) infants with primary CCHD screening targets, will be detected annually through newborn CCHD screening. An additional 880 (UI: 700-1080) false-negative screenings, including 280 (95% UI: 195-385) among primary screening targets, are expected. We estimated that similar numbers of CCHDs would be detected under scenarios comparing "lower" (∼19%) and "higher" (∼41%) than current prenatal detection prevalences. A substantial number of nonsyndromic CCHD cases are likely to be detected through universal CCHD screening; however, an equal number of false-negative screenings, primarily among secondary targets of screening, are likely to occur. Future efforts should document the true impact of CCHD screening in practice. Copyright © 2015 by the American Academy of Pediatrics.

Hyperthyroidism hidden by congenital central hypoventilation syndrome.

PubMed

Fox, Danya A; Weese-Mayer, Debra E; Wensley, David F; Stewart, Laura L

2015-05-01

Congenital central hypoventilation syndrome (CCHS) is a rare neurocristopathy with severe central hypoventilation. CCHS results from a mutation in the paired-like homeobox 2B gene (PHOX2B). In addition to hypoventilation, patients with CCHS display a wide array of autonomic nervous system abnormalities, including decreased heart rate variability and abrupt sinus pauses, esophageal dysmotility, abnormal pupillary light response, and temperature dysregulation, to name a few. To date, there has been no documentation of a child with both CCHS and hyperthyroidism. We report the case of a young child with CCHS who presented with tachycardia, which was later found to be due to Grave's disease, after many months of investigation.

Unclassified congenital deformities of the external ear.

PubMed

Vathulya, Madhubari

2018-01-01

Congenital ear deformities are a common entity. They are found in isolation or as a part of syndrome in patients. They may involve the external, middle or inner ear or in any of these combinations. Three patients of different ages presented with deformities including mirror image duplication of the superior auricle, unclassified deformities of ear lobule (wavy lobule) and deformity of superior auricle with unclassified variety of lateral ear pit. This article highlights that there are further cases of ear deformities that are noticed in the general population who come for cosmetic correction, and hence, there is a need for further modifying the classification of ear deformities.

RNAV STAR Procedural Adherence

NASA Technical Reports Server (NTRS)

Stewart, Michael J.; Matthews, Bryan L.

2017-01-01

In this exploratory archival study we mined the performance of 24 major US airports area navigation standard terminal arrival routes (RNAV STARs) over the preceding three years. Overlaying radar track data on top of RNAV STAR routes provided a comparison between aircraft flight paths and the waypoint positions and altitude restrictions. NASA Ames Supercomputing resources were utilized to perform the data mining and processing. We investigated STARs by lateral transition path (full-lateral), vertical restrictions (full-lateral/full-vertical), and skipped waypoints (skips). In addition, we graphed altitudes and their frequencies of occurrence for altitude restrictions. Full-lateral compliance was generally greater than Full-lateral/full-vertical, but the delta between the rates was not always consistent. Full-lateral/full-vertical usage medians of the 2016 procedures ranged from 0 in KDEN (Denver) to 21 in KMEM (Memphis). Waypoint skips ranged from 0 to nearly 100 for specific waypoints. Altitudes restrictions were sometimes missed by systemic amounts in 1000 ft. increments from the restriction, creating multi-modal distributions. Other times, altitude misses looked to be more normally distributed around the restriction. This work is a preliminary investigation into the objective performance of instrument procedures and provides a framework to track how procedural concepts and design intervention function. In addition, this tool may aid in providing acceptability metrics as well as risk assessment information.

Pediatric radiology malpractice claims - characteristics and comparison to adult radiology claims.

PubMed

Breen, Micheál A; Dwyer, Kathy; Yu-Moe, Winnie; Taylor, George A

2017-06-01

Medical malpractice is the primary method by which people who believe they have suffered an injury in the course of medical care seek compensation in the United States and Canada. An increasing body of research demonstrates that failure to correctly diagnose is the most common allegation made in malpractice claims against radiologists. Since the 1994 survey by the Society of Chairmen of Radiology in Children's Hospitals (SCORCH), no other published studies have specifically examined the frequency or clinical context of malpractice claims against pediatric radiologists or arising from pediatric imaging interpretation. We hypothesize that the frequency, character and outcome of malpractice claims made against pediatric radiologists differ from those seen in general radiology practice. We searched the Controlled Risk Insurance Co. (CRICO) Strategies' Comparative Benchmarking System (CBS), a private repository of approximately 350,000 open and closed medical malpractice claims in the United States, for claims related to pediatric radiology. We further queried these cases for the major allegation, the clinical environment in which the claim arose, the clinical severity of the alleged injury, indemnity paid (if payment was made), primary imaging modality involved (if applicable) and primary International Classification of Diseases, 9th revision (ICD-9) diagnosis underlying the claim. There were a total of 27,056 fully coded claims of medical malpractice in the CBS database in the 5-year period between Jan. 1, 2010, and Dec. 31, 2014. Of these, 1,472 cases (5.4%) involved patients younger than 18 years. Radiology was the primary service responsible for 71/1,472 (4.8%) pediatric cases. There were statistically significant differences in average payout for pediatric radiology claims ($314,671) compared to adult radiology claims ($174,033). The allegations were primarily diagnosis-related in 70% of pediatric radiology claims. The most common imaging modality implicated in pediatric radiology claims was radiography. The highest payouts in pediatric radiology pertained to missed congenital and developmental anomalies (average $1,222,932) such as developmental dysplasia of the hip and congenital central nervous system anomalies. More than half of pediatric radiology claims arose in the ambulatory setting. Pediatric radiology is not immune from claims of medical malpractice and these claims result in high monetary payouts, particularly for missed diagnoses of congenital and developmental anomalies. Our data suggest that efforts to reduce diagnostic error in the outpatient radiology setting, in the interpretation of radiographs, and in the improved diagnosis of fractures and congenital and developmental anomalies would be of particular benefit to the pediatric radiology community.

Epidemiology of congenital heart disease in Brazil

PubMed Central

Pinto Júnior, Valdester Cavalcante; Branco, Klébia Magalhães P. Castello; Cavalcante, Rodrigo Cardoso; Carvalho Junior, Waldemiro; Lima, José Rubens Costa; de Freitas, Sílvia Maria; Fraga, Maria Nazaré de Oliveira; de Souza, Nayana Maria Gomes

2015-01-01

Introduction Congenital heart disease is an abnormality in the structure or cardiocirculatory function, occurring from birth, even if diagnosed later. It can result in intrauterine death in childhood or in adulthood. Accounted for 6% of infant deaths in Brazil in 2007. Objective To estimate underreporting in the prevalence of congenital heart disease in Brazil and its subtypes. Methods The calculations of prevalence were performed by applying coefficients, giving them function rates for calculations of health problems. The study makes an approach between the literature and the governmental registries. It was adopted an estimate of 9: 1000 births and prevalence rates for subtypes applied to births of 2010. Estimates of births with congenital heart disease were compared with the reports to the Ministry of Health and were studied by descriptive methods with the use of rates and coefficients represented in tables. Results The incidence in Brazil is 25,757 new cases/year, distributed in: North 2,758; Northeast 7,570; Southeast 10,112; South 3,329; and Midwest 1,987. In 2010, were reported to System of Live Birth Information of Ministry of Health 1,377 cases of babies with congenital heart disease, representing 5.3% of the estimated for Brazil. In the same period, the most common subtypes were: ventricular septal defect (7,498); atrial septal defect (4,693); persistent ductus arteriosus (2,490); pulmonary stenosis (1,431); tetralogy of Fallot (973); coarctation of the aorta (973); transposition of the great arteries (887); and aortic stenosis 630. The prevalence of congenital heart disease, for the year of 2009, was 675,495 children and adolescents and 552,092 adults. Conclusion In Brazil, there is underreporting in the prevalence of congenital heart disease, signaling the need for adjustments in the methodology of registration. PMID:26107454

Noninvasive Screening for Pulmonary Hypertension by Exercise Testing in Congenital Heart Disease.

PubMed

Müller, Jan; Heck, Pinar Bambul; Ewert, Peter; Hager, Alfred

2017-05-01

Patients with congenital heart disease and native or palliated conditions are at risk to develop pulmonary hypertension (PH) in later life. Screening for PH is currently performed by regular echocardiographic follow-up, which appears to be difficult in several congenital conditions. This study evaluated the screening for PH in congenital heart disease by cardiopulmonary exercise testing (CPET). We analyzed our database including all patients with congenital heart disease referred for CPET in our institution from June 2001 to September 2013 and identified 683 patients who had an accompanied heart catheterization less than 6 month after CPET. Those 130 patients with proven PH were compared with the other 563 patients with congenital heart disease but without PH. Peak oxygen uptake was the most discriminative variable, showing two thresholds at 16.3 mL/min per kg and 25.2 mL/min per kg. The highest specificity of 95% for PH was found in patients with a peak oxygen uptake of 16.3 mL/min per kg or less and a breathing reserve of 37.4% or less. In patients with a peak oxygen uptake exceeding 16.3 mL/min per kg, there was a high specificity of 86.3% but a low sensitivity of 53.1%. With 25.2 mL/min per kg as the threshold, the sensitivity for PH was only 10.0%. Detection of PH in patients with congenital heart disease by CPET is difficult because of many falsely positive tests. However, a peak oxygen uptake higher than 25.2 mL/min per kg makes the diagnosis of PH unlikely. Copyright © 2017 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

Are the London Declaration’s 2020 goals sufficient to control Chagas disease?: Modeling scenarios for the Yucatan Peninsula

PubMed Central

Bartsch, Sarah M.; Skrip, Laura; Hertenstein, Daniel L.; Ndeffo-Mbah, Martial; Dumonteil, Eric O.; Galvani, Alison

2018-01-01

Background The 2020 Sustainable Development goals call for 100% certified interruption or control of the three main forms of Chagas disease transmission in Latin America. However, how much will achieving these goals to varying degrees control Chagas disease; what is the potential impact of missing these goals and if they are achieved, what may be left? Methods We developed a compartmental simulation model that represents the triatomine, human host, and non-human host populations and vector-borne, congenital, and transfusional T. cruzi transmission between them in the domestic and peridomestic settings to evaluate the impact of limiting transmission in a 2,000 person virtual village in Yucatan, Mexico. Results Interruption of domestic vectorial transmission had the largest impact on T. cruzi transmission and prevalence in all populations. Most of the gains were achieved within the first few years. Controlling vectorial transmission resulted in a 46.1–83.0% relative reduction in the number of new acute Chagas cases for a 50–100% interruption in domestic vector-host contact. Only controlling congenital transmission led to a 2.4–8.1% (30–100% interruption) relative reduction in the total number of new acute cases and reducing only transfusional transmission led to a 0.1–0.3% (30–100% reduction). Stopping all three forms of transmission resulted in 0.5 total transmission events over five years (compared to 5.0 with no interruption); interrupting all forms by 30% resulted in 3.4 events over five years per 2,000 persons. Conclusions While reducing domestic vectorial, congenital, and transfusional transmission can successfully reduce transmission to humans (up to 82% in one year), achieving the 2020 goals would still result in 0.5 new acute cases per 2,000 over five years. Even if the goals are missed, major gains can be achieved within the first few years. Interrupting transmission should be combined with other efforts such as a vaccine or improved access to care, especially for the population of already infected individuals. PMID:29554086

Diabetes insipidus in a patient with diabetes mellitus.

PubMed

Paulose, K P; Padmakumar, N

2002-09-01

The association of Diabetes Mellitus (DM) and Diabetes Insipidus (DI) without any congenital defects is very rare and we report here a case of type 2 diabetes mellitus (NIDDM) whose blood sugar was controlled by insulin, developing central diabetes insipidus 2 years later, which could be successively controlled by synthetic vasopressin.

Considerations in the Treatment of the Adult Blind Patient.

ERIC Educational Resources Information Center

Shulman, Dennis G.

1986-01-01

Contends that blindness is not a single clinical determinant, but, rather, that two groups of blind people exist. For those congenitally blind, lack of vision can cause developmental difficulties. For those who later acquire blindness, the premorbid psychodynamics and object relationships are most important in understanding the persons' reactions…

Performance Testing of Lidar Components Subjected to Space Exposure in Space via MISSE 7 Mission

NASA Technical Reports Server (NTRS)

Prasad, Narasimha S.

2012-01-01

.The objective of the Materials International Space Station Experiment (MISSE) is to study the performance of novel materials when subjected to the synergistic effects of the harsh space environment for several months. MISSE missions provide an opportunity for developing space qualifiable materials. Several laser and lidar components were sent by NASA Langley Research Center (LaRC) as a part of the MISSE 7 mission. The MISSE 7 module was transported to the international space station (ISS) via STS 129 mission that was launched on Nov 16, 2009. Later, the MISSE 7 module was brought back to the earth via the STS 134 that landed on June 1, 2011. The MISSE 7 module that was subjected to exposure in space environment for more than one and a half year included fiber laser, solid-state laser gain materials, detectors, and semiconductor laser diode. Performance testing of these components is now progressing. In this paper, the current progress on post-flight performance testing of a high-speed photodetector and a balanced receiver is discussed. Preliminary findings show that detector characteristics did not undergo any significant degradation.

Prevalence of hypodontia in a sample of Sudanese orthodontic patients

PubMed Central

Hassan, Duaa Abdulrahman; Abuaffan, Amal H; Hashim, Hayder A

2014-01-01

Objective: The aims of this study were to determine the prevalence of hypodontia in the permanent dentition in a sample of Sudanese patients who sought orthodontic treatment and to compare the results with the reported findings of other populations. Materials and Methods: Orthodontic files including orthopantomographs of 1069 patients (760 females and 309 males - more than 8 years old) were examined and inspected for evidence of hypodontia. Results: The prevalence of hypodontia of the present sample was 5.1%. Hypodontia was found considerably more frequently in the mandible than in the maxilla. The distribution of missing teeth was noticed in the left side more than in the right side. The most frequently missing teeth were the maxillary lateral incisors, followed by the mandibular second premolars, maxillary second premolars and mandibular left lateral incisor. The majority of patients had two or three teeth missing, but rarely more than 5 teeth missing. Conclusions: The prevalence of hypodontia of this study was within the range of that reported in the literature. The incidence of hypodontia in the anterior segment requires great need for orthodontic and prosthodontic treatment. With early detection of hypodontia, alternative treatment modalities can be planned and performed with a multidisciplinary team approach restoring the esthetic and function. PMID:25143929

Congenital Urinary Tract Obstruction: The Long View

PubMed Central

Chevalier, Robert L.

2015-01-01

Maldevelopment of the collecting system resulting in urinary tract obstruction (UTO) is the leading identifiable cause of CKD in children. Specific etiologies are unknown; most cases are suspected by discovering hydronephrosis on prenatal ultrasonography. Congenital UTO can reduce nephron number and cause bladder dysfunction, which contribute to ongoing injury. Severe UTO can impair kidney growth in utero, and animal models of unilateral ureteral obstruction show that ischemia and oxidative stress cause proximal tubular cell death, with later development of interstitial fibrosis. Congenital obstructive nephropathy therefore results from combined developmental and obstructive renal injury. Due to inadequacy of available biomarkers, criteria for surgical correction of upper tract obstruction are poorly established. Lower tract obstruction requires fetal or immediate postnatal intervention, and the rate of progression of CKD is highly variable. New biomarkers based on proteomics and determination of glomerular number by MRI should improve future care. Angiotensin inhibitors have not been effective in slowing progression, although avoidance of nephrotoxins and timely treatment of hypertension are important. Because congenital UTO begins in fetal life, smooth transfer of care from perinatologist to pediatric and adult urology and nephrology teams should optimize quality of life and ultimate outcomes for these patients. PMID:26088076

Congenital aural atresia and stenosis: surgery strategies and long-term results.

PubMed

Li, Chenlong; Zhang, Tianyu; Fu, Yaoyao; Qing, Fenghua; Chi, Fanglu

2014-07-01

To compare the patients who underwent surgery for congenital aural atresia (CAA) with congenital aural stenosis (CAS) for the stability of hearing results and complications during long-term follow-up. Retrospective review. Seventy-five CAA patients and fifty CAS patients who underwent congenital meatoplasty with canalplasty and tympanoplasty between 2007 and 2012. Paired comparison analyses detected no significant difference in preoperative ABG but significant changes in postoperative ABG, ΔABG, the number of ABG < 30 dB and ABG < 10 dB between CAA and CAS. Complications such as postoperative stenosis, bony regrowth, external aural canal (EAC) infection, EAC eczema, total deaf, and lateralization of the tympanic membrane (TM) were observed in 61.3% of patients with CAA and 20% of patients with CAS. Chi square test detected significant differences in complications between patients with CAA and CAS (χ(2) = 20.73, p < 0.01). Meatoplasty with canalplasty and tympanoplasty in individuals with CAS can yield reliable and lasting positive hearing results with a low incidence of severe complications. The existence and preoperative condition of patients' TM and EAC skin helped improve hearing results and decrease the incidence of complications. However, the final hearing results and complications required stricter indications for CAA patients.

The case for early use of rapid whole genome sequencing in management of critically ill infants: Late diagnosis of Coffin-Siris syndrome in an infant with left congenital diaphragmatic hernia, congenital heart disease and recurrent infections.

PubMed

Sweeney, Nathaly M; Nahas, Shareef A; Chowdhury, Shimul; Del Campo, Miguel; Jones, Marilyn C; Dimmock, David P; Kingsmore, Stephen F; Investigators, Rcigm

2018-03-16

Congenital diaphragmatic hernia (CDH) results from incomplete formation of the diaphragm leading to herniation of abdominal organs into the thoracic cavity. CDH is associated with pulmonary hypoplasia, congenital heart disease and pulmonary hypertension. Genetically, it is associated with aneuploidies, chromosomal copy number variants, and single gene mutations. CDH is the most expensive non-cardiac congenital defect: Management frequently requires implementation of Extracorporeal Membrane Oxygenation (ECMO), which increases management expenditures 2.4 - 3.5-fold. The cost of management of CDH has been estimated to exceed $250 million per year. Despite in hospital survival of 80-90%, current management is imperfect, as a great proportion of surviving children have long-term functional deficits. We report the case of a premature infant prenatally diagnosed with CDH and congenital heart disease, who had a protracted and complicated course in the intensive care unit with multiple surgical interventions, including post-cardiac surgery ECMO, gastrostomy tube placement with Nissen fundoplication, tracheostomy for respiratory failure, recurrent infections and developmental delay. Rapid whole genome sequencing (rWGS) identified a de novo, likely pathogenic, c.3096_3100delCAAAG (p.Lys1033Argfs*32) variant in ARID1B, providing a diagnosis of Coffin-Siris syndrome. Her parents elected palliative care and she died later that day. Had rWGS been performed as a neonate, eight months of suffering and futile healthcare utilization may have been avoided. Cold Spring Harbor Laboratory Press.

The superiority in voice processing of the blind arises from neural plasticity at sensory processing stages.

PubMed

Föcker, Julia; Best, Anna; Hölig, Cordula; Röder, Brigitte

2012-07-01

Blind people rely much more on voices compared to sighted individuals when identifying other people. Previous research has suggested a faster processing of auditory input in blind individuals than sighted controls and an enhanced activation of temporal cortical regions during voice processing. The present study used event-related potentials (ERPs) to single out the sub-processes of auditory person identification that change and allow for superior voice processing after congenital blindness. A priming paradigm was employed in which two successive voices (S1 and S2) of either the same (50% of the trials) or different actors were presented. Congenitally blind and matched sighted participants made an old-young decision on the S2. During the pre-experimental familiarization with the stimuli, congenitally blind individuals showed faster learning rates than sighted controls. Reaction times were shorter in person-congruent trials than in person-incongruent trials in both groups. ERPs to S2 stimuli in person-incongruent as compared to person-congruent trials were significantly enhanced at early processing stages (100-160 ms) in congenitally blind participants only. A later negative ERP effect (>200 ms) was found in both groups. The scalp topographies of the experimental effects were characterized by a central and parietal distribution in the sighted but a more posterior distribution in the congenitally blind. These results provide evidence for an improvement of early voice processing stages and a reorganization of the person identification system as a neural correlate of compensatory behavioral improvements following congenital blindness. Copyright © 2012 Elsevier Ltd. All rights reserved.

Normal ranges for fetal electrocardiogram values for the healthy fetus of 18-24 weeks of gestation: a prospective cohort study.

PubMed

Verdurmen, Kim M J; Lempersz, Carlijn; Vullings, Rik; Schroer, Christian; Delhaas, Tammo; van Laar, Judith O E H; Oei, S Guid

2016-08-17

The fetal anomaly ultrasound only detects 65 to 81 % of the patients with congenital heart disease, making it the most common structural fetal anomaly of which a significant part is missed during prenatal life. Therefore, we need a reliable non-invasive diagnostic method which improves the predictive value for congenital heart diseases early in pregnancy. Fetal electrocardiography could be this desired diagnostic method. There are multiple technical challenges to overcome in the conduction of the fetal electrocardiogram. In addition, interpretation is difficult due to the organisation of the fetal circulation in utero. We want to establish the normal ranges and values of the fetal electrocardiogram parameters in healthy fetuses of 18 to 24 weeks of gestation. Women with an uneventful singleton pregnancy between 18 and 24 weeks of gestation are asked to participate in this prospective cohort study. A certified and experienced sonographist performs the fetal anomaly scan. Subsequently, a fetal electrocardiogram recording is performed using dedicated signal processing methods. Measurements are performed at two institutes. We will include 300 participants to determine the normal values and 95 % confidence intervals of the fetal electrocardiogram parameters in a healthy fetus. We will evaluate the fetal heart rate, segment intervals, normalised amplitude and the fetal heart axis. Three months postpartum, we will evaluate if a newborn is healthy through a questionnaire. Fetal electrocardiography could be a promising tool in the screening program for congenital heart diseases. The electrocardiogram is a depiction of the intimate relationship between the cardiac nerve conduction pathways and the structural morphology of the fetal heart, and therefore particularly suitable for the detection of secondary effects due to a congenital heart disease (hypotrophy, hypertrophy and conduction interruption).

Immediate provisional restoration of a single-tooth implant in the esthetic zone: a case report.

PubMed

Fu, Po-Sung; Wu, Yi-Min; Tsai, Ching-Fang; Huang, Ta-Ko; Chen, Wen-Cheng; Hung, Chun-Cheng

2011-02-01

Immediate implant restoration of single implants may demonstrate a positive effect on peri-implant soft tissue. Placement of a provisional restoration following implant surgery can create soft tissue contours that resemble normal gingival topography before placement of the definitive prosthesis. This article describes a staged approach of the mandibular permanent right central incisor, which was congenital missing. The proper space for restoration of the missing incisor was created through orthodontic treatment. The scheduled implant site was reconstructed using autogenous bone harvested from the chin region. After a healing period of four months, an implant was installed with the connection of a fixed provisional crown to a prefabricated temporary abutment. The soft tissue around the implant healed according to the contours of the provisional restoration and the emergence profile was used to duplicate the definitive restoration. Peri-implant esthetics was achieved through the staged approach and immediate restoration of the implant. Copyright © 2011. Published by Elsevier B.V.

[Surgery of grown up congenital heart disease. About 540 cases].

PubMed

Haddad, A; Bourezak, R; Aouiche, M; Ait Mohand, R; Hamzaoui, A; Bourezak, S E

2015-09-01

With advances in recent decades in the field of congenital heart disease both for imaging in medical therapy, a large number of heart disease is diagnosed before birth. Many of them benefit from surgery and reach adulthood, they do not require further action. Some of them develop later in their lives other problems requiring reoperation in adulthood. This sparked the birth of a subspecialty within the department of congenital heart disease: GUCH Unit "grown up congenital heart disease". In developing countries, little heart are detected in childhood, a minority of them are operated and very few reach adulthood or with minor heart disease or become advanced enough then inoperable. Only part may still take advantage of surgery at this age. The aim of our study is to describe the spectrum and characteristics of congenital heart disease in adulthood in Algiers a center of cardiovascular surgery. A retrospective descriptive study of patients aged 15 and above operated for congenital heart defects between 1995 and 2011. Five hundred and forty patients aged 15 to 76years (29±10 years), including 314 women and 226 men are operated congenital heart defects between 1995 and 2011. The left-right shunts represent two thirds of heart disease, represented mainly (50%) by the atrial septal defect. Barriers to the ejection of the left heart represent one forth of cases with a predominance of subvalvular aortic stenosis. We find the native heart whose survival is considered exceptional in adulthood in the absence of surgery, such as tetralogy of Fallot, aortopulmonary windows wide, double outlet right ventricle and atrioventricular canal that take advantage of always surgery. The results are encouraging with low perioperative mortality (2%). The approach of congenital heart disease in developing countries is different from that of developed countries. Efforts need to be made in early detection and monitoring of congenital heart disease and improve access to surgery centers in close collaboration with pediatricians, cardiologists and obstetricians. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

Congenital intrahepatic portosystemic venous shunt presenting with paraparesis as the initial symptom.

PubMed

Torigoe, Masataka; Maeshima, Keisuke; Takeshita, Yasushi

2013-01-01

An 85-year-old woman was hospitalized with rapidly progressive paraparesis without altered consciousness, although she was not definitively diagnosed. She developed acute drowsiness and disorientation several days later. An intrahepatic portosystemic venous shunt (IPSVS) was observed on enhanced computed tomography, and hyperammonemia suggested leakage of neurotoxins from the shunt as the etiology of the patient's symptoms. Her neurological symptoms and hyperammonemia improved following transcatheter shunt embolization. We diagnosed her with hepatic myelopathy, which is a rare complication of liver cirrhosis and portosystemic venous shunts. Hepatic myelopathy resulting from a congenital IPSVS has not been previously reported. A diagnosis of hepatic myelopathy should be ruled out in diagnostically difficult cases of paraparesis.

Sit-to-stand ground reaction force characteristics in blind and sighted female children.

PubMed

Faraji Aylar, Mozhgan; Jafarnezhadgero, Amir Ali; Salari Esker, Fatemeh

2018-03-05

The association between visual sensory and sit-to-stand ground reaction force characteristics is not clear. Impulse is the amount of force applied over a period of time. Also, free moment represents the vertical moment applied in the center of pressure (COP). How the ground reaction force components, vertical loading rate, impulses and free moment respond to long and short term restricted visual information? Fifteen female children with congenital blindness and 45 healthy girls with no visual impairments participated in this study. The girls with congenital blindness were placed in one group and the 45 girls with no visual impairments were randomly divided into three groups of 15; eyes open, permanently eyes closed, and temporary eyes closed. The participants in the permanently eyes closed group closed their eyes for 20 min before the test, whereas temporary eyes closed group did tests with their eyes closed throughout, and those in the eyes open group kept their eyes open. Congenital blindness was associated with increased vertical loading rate, range of motion of knee and hip in the medio-lateral plane. Also, medio-lateral and vertical ground reaction force impulses. Similar peak negative and positive free moments were observed in three groups. In conclusion, the results reveal that sit-to-stand ground reaction force components in blind children may have clinical importance for improvement of balance control of these individuals. Copyright © 2018 Elsevier B.V. All rights reserved.

Delayed presentation of congenital diaphragmatic hernia manifesting as combined-type acute gastric volvulus: a case report and review of the literature.

PubMed

Anaya-Ayala, Javier E; Naik-Mathuria, Bindi; Olutoye, Oluyinka O

2008-03-01

Acute gastric volvulus associated with congenital diaphragmatic hernia is an unusual surgical emergency. We describe a case of an 11-year-old girl who presented with a 4-day history of abdominal pain, nonproductive retching, cough, and shortness of breath. A chest radiograph revealed a large air-fluid level in left hemithorax and the presence of intestinal loops with marked mediastinal deviation. Nasogastric decompression was unsuccessful. Via a thoracoscopic approach, the large fluid-filled stomach was percutaneously decompressed but could not be reduced. Through a left subcostal incision, a left-sided diaphragmatic defect about 4 x 5 cm was encountered. A large portion of small intestines, ascending and transverse colon, strangulated but viable stomach, and a large spleen herniated through the defect. The contents were reduced, revealing a combined gastric volvulus. Once the diaphragmatic defect was repaired primarily, there was insufficient space in the abdominal cavity to contain all the viscera reduced form the chest. Therefore, we placed an AlloDerm patch on the fascia and closed with a wound V.A.C (Kinetic Concepts Inc, San Antonio, TX). Two weeks later, the wound was definitively closed; she recovered uneventfully and was discharged home 3 days later. To our knowledge, only 26 previous cases of acute gastric volvulus complicating a congenital diaphragmatic hernia in children have been reported in the literature. Our patient represents the 27th case and the first combined type acute gastric volvulus case.

Congenital Diaphragmatic Hernia: The Side of Diaphragmatic Defect and Associated Nondiaphragmatic Malformations.

PubMed

Grizelj, Ruža; Bojanić, Katarina; Vuković, Jurica; Weingarten, Toby N; Schroeder, Darrell R; Sprung, Juraj

2017-07-01

Background  Congenital diaphragmatic hernia (CDH) has different clinical presentations depending on whether it is right sided (R-CDH) or left sided (L-CDH). Some have suggested that L-CDH and R-CDH may represent different syndromic phenotypes. This theory would be indirectly supported if different nondiaphragmatic anomalies were associated with laterality. We assessed whether CDH laterality is associated with specific types of nondiaphragmatic anomalies. Methods  Cases of CDH were retrospectively identified from five centers, and associated congenital anomalies, prenatal diagnosis, demographics, birth characteristics, and side of the CDH were analyzed. CDH characteristics were summarized according to the absence (isolated) or presence (complex) of nondiaphragmatic malformations. Results  Among 228 neonates with CDH, 140 (61%) had isolated CDH and 88 (39%) had complex CDH. Complex CDH was significantly associated with being small for gestational age (odds ratio [95% confidence interval, CI]: 8.3 [1.9-35.7]; p  = 0.005) and having L-CDH (odds ratio [95% CI]: 3.6 [1.5-8.9]; p  = 0.005). The overall proportion with anomalies differed by side (42% for L-CDH, 23% for R-CDH; p  = 0.02), but the rates of anomalies in specific organ systems did not differ. Conclusion  The rate of associated nondiaphragmatic anomalies by specific organ system did not differ between L-CDH and R-CDH, which suggests that they represent the same phenotypic entity. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

[Conseqquences of dorso-ventral and anterior-posterior reversion of early neurula lateral mesoblast on development of urogenital system in common toad, Bufo bufo. (Amphibia anura)].

PubMed

Hakim, J; Gipouloux, J D

1975-10-27

At early neurula stage of the toad, cranio-caudal and dorso-ventral reversal of lateral mesoblast is performed. The genito-urinary system is therefore missing after this intervention. The three following factors of the formation of this system anlage are anlyzed: lateral mesoderm competence, stimulative activites of dorso-caudal endoblast on the one hand, of chordo-mesoderm on the other hand.

Recurrent Fever, Anemia, Arthralgia, and Genu Varum as Late Manifestations of Congenital Syphilis.

PubMed

Quaresma, Liliana; Gonçalves, Juan; Estanqueiro, Paula; Salgado, Manuel

2015-12-01

We report an unusual case of recurrent fever, inflammatory knee pain, genu varum, persistent anemia, and high erythrocyte sedimentation rate in a 28-month-old boy as late manifestations of congenital syphilis (CS). Despite standard penicillin treatment at the end of the first month of life, it recurred later in life, more than once. In the first relapse, manifested by a likely gumma lesion, the prior penicillin treatment plus a negative venereal disease research laboratory result unduly led to exclusion of CS. A second treatment with penicillin led to complete clinical resolution. Although rare, bow legs, recurrent fever, anemia, and inflammatory arthralgias may be manifestations of late CS. Congenital syphilis should be considered throughout early childhood, especially if history of syphilis infection is present. A negative venereal disease research laboratory result does not exclude late syphilis, present in nearly 30% of these patients. The possibility of atypical symptoms of this "great masquerader" should always be borne in mind.

Microsurgical transfer of the second toe for congenital deficiency of the thumb.

PubMed

Lister, G

1988-10-01

Twelve second-toe transfers have been performed to substitute for thumbs congenitally deficient through constriction ring syndrome, symbrachydactyly, and true transverse arrest. The children were on average 3 years of age, and the youngest was undertaken at 10 months. Anatomic variations were the rule in the six cases of transverse absence and the three cases of symbrachydactyly, requiring nerves, tendons, and vessels in the toe be connected to whatever appropriate structure could be located. All transfers survived, and only one required exploration. Sensation appeared good in the 11 seen in later review, but interphalangeal motion was achieved in only 3. However, good use was made of the digit by all except one patient, an early patient in whom there was not an adequate skeleton on which to base the transfer. This small series suggests that in appropriate cases toe transfer can be undertaken early for congenital deficiency with little fear of encountering microsurgical problems unique to the infant.

Lesion characteristics driving right-hemispheric language reorganization in congenital left-hemispheric brain damage.

PubMed

Lidzba, Karen; de Haan, Bianca; Wilke, Marko; Krägeloh-Mann, Ingeborg; Staudt, Martin

2017-10-01

Pre- or perinatally acquired ("congenital") left-hemispheric brain lesions can be compensated for by reorganizing language into homotopic brain regions in the right hemisphere. Language comprehension may be hemispherically dissociated from language production. We investigated the lesion characteristics driving inter-hemispheric reorganization of language comprehension and language production in 19 patients (7-32years; eight females) with congenital left-hemispheric brain lesions (periventricular lesions [n=11] and middle cerebral artery infarctions [n=8]) by fMRI. 16/17 patients demonstrated reorganized language production, while 7/19 patients had reorganized language comprehension. Lesions to the insular cortex and the temporo-parietal junction (predominantly supramarginal gyrus) were significantly more common in patients in whom both, language production and comprehension were reorganized. These areas belong to the dorsal stream of the language network, participating in the auditory-motor integration of language. Our data suggest that the integrity of this stream might be crucial for a normal left-lateralized language development. Copyright © 2017. Published by Elsevier Inc.

Concomitant intra-articular glenohumeral injuries in displaced fractures of the lateral clavicle.

PubMed

Beirer, Marc; Zyskowski, Michael; Crönlein, Moritz; Pförringer, Dominik; Schmitt-Sody, Marcus; Sandmann, Gunther; Huber-Wagner, Stefan; Biberthaler, Peter; Kirchhoff, Chlodwig

2017-10-01

To detect concomitant intra-articular glenohumeral injuries, in acute displaced fractures of the lateral clavicle, initially missed due to unfeasible clinical evaluation of the acutely injured shoulder. All patients suffering from an acute displaced lateral clavicle fracture with indication to surgical treatment underwent diagnostic shoulder arthroscopy prior to open reduction and internal fixation. In case of therapy-relevant intra-articular glenohumeral injuries, subsequent surgical treatment was performed. Intra-articular injuries were found in 13 of 28 patients (46.4 %) with initially suspected isolated lateral clavicle fracture. Additional surgical treatment was performed in 8 of 28 cases (28.6 %). Superior labral anterior-posterior (SLAP) lesions were observed in 4 of 28 patients (14.3 %; SLAP II a: 1; II b: 1; III: 1; and IV: 1). Lesions of the pulley system were found in 3 of 28 patients (10.7 %; Habermeyer III°). One partial articular supraspinatus tendon avulsion lesion (3.6 %) and one lesion of the subscapularis tendon (3.6 %; Fox and Romeo II°) were observed. Traumatic concomitant glenohumeral injuries in lateral clavicle fractures seem to be more frequent than expected in general. Subsequent surgical treatment of these formerly missed but therapy-relevant injuries may increase functional outcome and reduce complication rate. IV.

[Congenital skull base defect causing recurrent bacterial meningitis].

PubMed

Berliner, Elihay; Bar Meir, Maskit; Megged, Orli

2012-08-01

Bacterial meningitis is a life threatening disease. Most patients will experience only one episode throughout life. Children who experience bacterial meningitis more than once, require further immunologic or anatomic evaluation. We report a 9 year old child with five episodes of bacterial meningitis due to a congenital defect of the skull base. A two and a half year old boy first presented to our medical center with pneumococcal meningitis. He was treated with antibiotics and fully recovered. Two months later he presented again with a similar clinical picture. Streptococcus pneumoniae grew in cerebrospinal fluid (CSF) culture. CT scan and later MRI of the brain revealed a defect in the anterior middle fossa floor, with protrusion of brain tissue into the sphenoidal sinus. Corrective surgery was recommended but the parents refused. Three months later, a third episode of pneumococcal meningitis occurred. The child again recovered with antibiotics and this time corrective surgery was performed. Five years later, the boy presented once again with clinical signs and symptoms consistent with bacterial meningitis. CSF culture was positive, but the final identification of the bacteria was conducted by broad spectrum 16S ribosomal RNA PCR (16S rRNA PCR) which revealed a sequence of Neisseria lactamica. CT and MRI showed recurrence of the skull base defect with encephalocele in the sphenoid sinus. The parents again refused neurosurgical intervention. A year later the patient presented with bacterial meningitis. CSF culture obtained after initiation of antibiotics was negative, but actinobacillus was identified in the CSF by 16S rRNA PCR. The patient is scheduled for neurosurgical intervention. In patients with recurrent bacterial meningitis caused by organisms colonizing the oropharynx or nasopharynx, an anatomical defect should be carefully sought and surgically repaired.

Infant Face Preferences after Binocular Visual Deprivation

ERIC Educational Resources Information Center

Mondloch, Catherine J.; Lewis, Terri L.; Levin, Alex V.; Maurer, Daphne

2013-01-01

Early visual deprivation impairs some, but not all, aspects of face perception. We investigated the possible developmental roots of later abnormalities by using a face detection task to test infants treated for bilateral congenital cataract within 1 hour of their first focused visual input. The seven patients were between 5 and 12 weeks old…

Pyloric duplications: review and case study.

PubMed

Cooper, S; Abrams, R S; Carbaugh, R A

1995-12-01

Gastric duplications are unusual congenital anomalies that often require surgical treatment. Pyloric duplications are particularly rare; few are reported in the English literature. This article reviews the literature on pyloric duplications and describes a pyloric duplication associated with hypertrophic pyloric stenosis in a 5-week-old child and a duplication that recurred 7 years later.

Impact of resin bonded bridgework on quality of life of patients with hypodontia.

PubMed

Anweigi, Lamyia; Finbarr Allen, P; Ziada, Hassan

2013-08-01

To determine the impact of hypodontia on the quality of life of adolescent and young adult patients, and, to assess the impact of restoring tooth spaces with resin bonded bridgework on quality of life of patients with hypodontia. In a prospective study, 82 patients with a confirmed diagnosis of hypodontia participated. The primary outcome was oral health related quality of life (OHRQoL) and this was measured using the OHIP-49 prior to treatment. The pre-treatment sample was then divided into two groups: the test group (n=40 patients) who had completed orthodontic treatment and had tooth spaces restored with resin bonded bridgework, and, a control group (n=42 patients) who were still in the process of orthodontic treatment. All patients completed a follow-up OHIP-49, and between and within group comparisons made. The pre-treatment sample included 43 females and 39 males, age ranged from 16 to 34 years (median age 19). Forty-three patients had more than 4 congenitally missing teeth and thirty-nine had ≤ 4 congenitally missing teeth. There were no differences between the groups prior to treatment. For the test group, there was a significant improvement in median OHIP summary scores (p<0.001) after treatment. OHIP scores deteriorated to a significant degree for control subjects (p=0.002). The effect sizes for the pre-post treatment change in both groups were moderate to large. Hypodontia has a significant impact on oral health related quality of life. Provision of resin bonded bridges has a positive impact on oral health related quality of life of patients with hypodontia. Copyright © 2013 Elsevier Ltd. All rights reserved.

Meta-analysis of congenitally missing teeth in the permanent dentition: Prevalence, variations across ethnicities, regions and time.

PubMed

Rakhshan, Vahid; Rakhshan, Hamid

2015-09-01

Congenitally missing teeth (CMT) are of concern to many fields of dentistry. Only a few reviews have been published in this regard. The aim was to analyze the literature on CMT in the permanent dentition, excluding the third molars, and to identify potential links with ethnicity, geographical regions, and time. A total of 118 reports on CMT were collected by two authors by interrogating databases. Sample homogeneity, publication bias, publication year (in Caucasian and Mongoloid samples, and in general), ethnicities, and geography of CMT prevalence were statistically analyzed using a Q-test, Egger regression, linear regression, a Spearman coefficient, Kruskal-Wallis, a Dunn post-hoc (α = 0.05), and a Mann-Whitney U test (α = 0.0125, α = 0.0071). The mean CMT prevalence was 6.53% ± 3.33%. There were significant geographic differences in CMT rates (P = 0.0001, Kruskal-Wallis) and between ethnicities (P = 0.0002, Kruskal-Wallis). According to the Mann-Whitney U test (α = 0.0071), eastern Asians (P = 0.0008) and Europeans (marginally significant, P = 0.0128) showed an elevated prevalence, while Western Asians (P = 0.0001) and Americans (marginally significant, P = 0.0292) had lower prevalence rates. Compared with other ethnicities, Mongoloids showed higher prevalence (P = 0.0009) while Asian Caucasians showed lower rates (P = 0.0005, Mann-Whitney U, α = 0.0125). The year of publication was not significantly correlated with any of the subsamples studied (P > 0.3, linear regression). Clinicians should be vigilant in the assessment of CMT in Mongoloids. No increase of this condition was detected during the last century. Copyright © 2015 CEO. Published by Elsevier Masson SAS. All rights reserved.

Rifapentine

MedlinePlus

... risk of getting an infection later that resists antibiotic treatment. ... the medication in a small amount of semisolid food such as pudding or applesauce. ... resistant to antibiotics. If you miss doses of rifapentine, you may ...

OC19 - Measuring feasibility, reliability and validity of the Greek version of PedsQL cardiac module.

PubMed

Drakouli, Maria; Petsios, Konstantinos; Matziou, Vasiliki

2016-05-09

Theme: Cardiology Introduction: Measuring quality of life (QoL) in children and adolescents with congenital heart disease (CHD) is of great clinical importance. The aim of the study was: (a) to adapt the PedsQL Cardiac Module for children aged two to 18 years with CHD in a sample of the Greek population; (b) to determine its reliability and validity. Forward and backward translation methodology was used. Parents and children completed the instrument during: (a) hospitalization and (b) visits in the paediatric cardiology outpatient department. Cross-informant variance between children and parents was thoroughly assessed. Missing item responses did not exceed 5%. All internal consistency reliability coefficients for the inventory exceeded the minimum standards for group comparisons, over 0.75. Hypothesized correlations between cardiac module and core scales were statistically significant, (p<0.05). Agreement between children and parents was relatively high. Pilot study results will be additionally presented. The findings support the feasibility, reliability and validity of the Greek translation of the PedsQL Cardiac Module in children with congenital heart defect (CHD).

Australian lungfish (Neoceratodus forsteri): a missing link in the evolution of complementary side biases for predator avoidance and prey capture.

PubMed

Lippolis, G; Joss, J M P; Rogers, Lesley J

2009-01-01

Side biases in behavior, reflecting lateral specializations of the brain, are widespread amongst vertebrates. We studied laterality in the Australian lungfish (Neoceratodus forsteri) to gain insight into the evolution of the complementary specializations of predator avoidance (right hemisphere) and foraging behavior (left hemisphere). Because N. forsteri is the closest extant ancestor of the first land-dwelling vertebrates, knowledge of laterality in this species should provide a missing link in the transition from fish to tetrapods. Predator escape responses were elicited by generating pressure waves and a significant bias for C-start responses to the left side was found. This bias was unaffected by activity levels that change according to a diurnal cycle: activity is higher in the dark phase than the light phase. A complementary bias to turn to the right side was found during feeding behavior. This pattern of opposite-side specializations matches that known for fish, anurans, reptiles, birds and, as some evidence indicates, also mammals. Hence, we conclude that it is a homologous pattern of lateralization that evolved in early aquatic vertebrates and was retained as they made the transition to land-dwelling tetrapods. Copyright 2009 S. Karger AG, Basel.

Association between congenital toxoplasmosis and parent-reported developmental outcomes, concerns, and impairments, in 3 year old children

PubMed Central

Freeman, Katherine; Salt, Alison; Prusa, Andrea; Malm, Gunilla; Ferret, Nicole; Buffolano, Wilma; Schmidt, Dorthe; Tan, Hooi Kuan; Gilbert, Ruth E

2005-01-01

Background Information is lacking on the effects of congenital toxoplasmosis on development, behavior, and impairment in later childhood, as well as on parental concerns and anxiety. This information is important for counselling parents about the prognosis for an infected child and for policy decisions on screening. Methods We prospectively studied a cohort of children identified by screening for toxoplasmosis in pregnant women or neonates between 1996 and 2000 in ten European centers. At 3 years of age, parents of children with and without congenital toxoplasmosis were surveyed about their child's development, behavior, and impairment, and about parental concerns and anxiety, using a postal questionnaire. Results Parents of 178/223 (80%) infected, and 527/821 (64%) uninfected children responded. We found no evidence that impaired development or behavior were more common in infected children, or that any potential effect of congenital toxoplasmosis was masked by prenatal treatment. Parents of infected children were significantly more anxious and reported more visual problems in their children. Conclusion On average, children aged three to four years with congenital toxoplasmosis identified by screening and treated during infancy in this European setting had risks of abnormal development and behavior similar to uninfected children. Parental anxiety about infected children needs to be addressed by clinicians. Future studies with longer follow up and clinician-administered assessments may be better able to detect any subtle differences in child outcomes. PMID:16014166

Cervical spinal stenosis and sports-related cervical cord neurapraxia in children.

PubMed

Boockvar, J A; Durham, S R; Sun, P P

2001-12-15

Congenital spinal stenosis has been demonstrated to contribute to cervical cord neurapraxia after cervical spinal cord injury in adult athletes. A sagittal canal diameter <14 mm and/or a Torg ratio (sagittal diameter of the spinal canal: midcervical sagittal vertebral body diameter) of <0.8 are indicative of significant cervical spinal stenosis. Although sports-related cervical spine injuries are common in children, the role of congenital cervical stenosis in the etiology of these injuries remains unclear. The authors measured the sagittal canal diameter and the Torg ratio in children presenting with cervical cord neurapraxia resulting from sports-related cervical spinal cord injuries to determine the presence of congenital spinal stenosis. A total of 13 children (9 male, 4 female) presented with cervical cord neurapraxia after a sports-related cervical spinal cord injury. Age ranged from 7 to 15 years (mean +/- SD, 11.5 +/- 2.7 years). The sports involved were football (n = 4), wrestling (n = 2), hockey (n = 2), and soccer, gymnastics, baseball, kickball, and pogosticking (n = 1 each). Lateral cervical spine radiographs were used to determine the sagittal canal diameter and the Torg ratio at C4. The sagittal canal diameter (mean +/- SD, 17.58 +/- 1.63 mm) and the Torg ratio (mean +/- SD, 1.20 +/- 0.24) were normal in all of these children. Using the sagittal canal diameter and the Torg ratio as a measurement of congenital spinal stenosis, the authors did not find evidence of congenital cervical spinal stenosis in a group of children with sports-related cervical spinal cord neurapraxia. The occurrence of cervical cord neurapraxia in pediatric patients can be attributed to the mobility of the pediatric spine rather than to congenital cervical spinal stenosis.

Healthcare Disparities in Outcomes of a Metropolitan Congenital Heart Surgery Center: The Effect of Clinical and Socioeconomic Factors.

PubMed

Peterson, Jennifer K; Catton, Kirsti G; Setty, Shaun P

2018-04-01

The purpose of this study is to identify the impact of demographic, socioeconomic, and clinical factors on congenital heart surgery outcomes. This retrospective cohort study included 234 congenital heart surgery patients from 2011 through 2015, in a racially/ethnically diverse metropolitan children's hospital. Outcomes included length of stay (LOS), age at first echocardiogram, length of mechanical ventilation, and incidence of complications. Compared to others, black children underwent their first echocardiogram at a later age (median 23 versus 2 days, p = 0.014) and were more likely to be diagnosed with congenital heart disease in the emergency room (p = 0.026). Hispanic children were more likely to have major non-cardiac congenital anomalies (p = 0.045). Increased LOS during elective admissions was associated with higher surgical complexity (STAT category 4 and 5 Estimate 3.905 days, p = 0.001), compared to STAT category 1, and number of complications (Estimate = 2.306 days per complication, p < 0.001). Increased LOS in non-elective admissions was associated with the number of complex chronic conditions (Estimate = 15.446 days, p = 0.045) and the number of complications (Estimate = 11.591 days per complication, p < 0.001). However, in multivariate analysis, race and ethnicity was not associated with increased LOS or age at first echocardiogram. In this diverse setting, race/ethnicity was not associated with increased LOS, age at first echocardiogram, length of ventilation, or complications. Surgical complexity, chronic conditions, and complications were associated with increased LOS. We discuss some interventions to reduce disparities in congenital heart surgery outcomes.

Cache Coherence Protocols for Large-Scale Multiprocessors

DTIC Science & Technology

1990-09-01

and is compared with the other protocols for large-scale machines. In later analysis, this coherence method is designated by the acronym OCPD , which...private read misses 2 6 6 ( OCPD ) private write misses 2 6 6 Table 4.2: Transaction Types and Costs. the performance of the memory system. These...methodologies. Figure 4-2 shows the processor utiliza- tions of the Weather program, with special code in the dyn-nic post-mortem sched- 94 OCPD DlrINB

Developing Standard Exercises and Statistics to Measure the Impact of Cyber Defenses

DTIC Science & Technology

2014-06-01

partial fulfillment of the requirements for the degree of MASTER OF SCIENCE IN CYBER SYSTEMS AND OPERATIONS from the NAVAL POSTGRADUATE...attributed to insurers’ lack of experience with a new kind of risk, combined with insufficient actuarial data hindering competitive pricing.” Thus, it is...event. This “lack of actuarial data,” as will be seen later, is not just missing in insurance models—it is indeed the missing piece in the cost

Pragmatic criteria of the definition of neonatal near miss: a comparative study

PubMed Central

Kale, Pauline Lorena; Jorge, Maria Helena Prado de Mello; Laurenti, Ruy; Fonseca, Sandra Costa; da Silva, Kátia Silveira

2017-01-01

ABSTRACT OBJECTIVE The objective of this study was to test the validity of the pragmatic criteria of the definitions of neonatal near miss, extending them throughout the infant period, and to estimate the indicators of perinatal care in public maternity hospitals. METHODS A cohort of live births from six maternity hospitals in the municipalities of São Paulo, Niterói, and Rio de Janeiro, Brazil, was carried out in 2011. We carried out interviews and checked prenatal cards and medical records. We compared the pragmatic criteria (birth weight, gestational age, and 5’ Apgar score) of the definitions of near miss of Pileggi et al., Pileggi-Castro et al., Souza et al., and Silva et al. We calculated sensitivity, specificity (gold standard: infant mortality), percentage of deaths among newborns with life-threatening conditions, and rates of near miss, mortality, and severe outcomes per 1,000 live births. RESULTS A total 7,315 newborns were analyzed (completeness of information > 99%). The sensitivity of the definition of Pileggi-Castro et al. was higher, resulting in a higher number of cases of near miss, Souza et al. presented lower value, and Pileggi et al. and de Silva et al. presented intermediate values. There is an increase in sensitivity when the period goes from 0–6 to 0–27 days, and there is a decrease when it goes to 0–364 days. Specificities were high (≥ 97%) and above sensitivities (54% to 77%). One maternity hospital in São Paulo and one in Niterói presented, respectively, the lowest and highest rates of infant mortality, near miss, and frequency of births with life-threatening conditions, regardless of the definition. CONCLUSIONS The definitions of near miss based exclusively on pragmatic criteria are valid and can be used for monitoring purposes. Based on the perinatal literature, the cutoff points adopted by Silva et al. were more appropriate. Periodic studies could apply a more complete definition, incorporating clinical, laboratory, and management criteria, including congenital anomalies predictive of infant mortality. PMID:29211204

Replacing a Missing Tooth

MedlinePlus

... usually shifted, so this must be corrected. A space is often opened up and maintained for later ... with an artificial tooth serves to maintain the space and improve speech and appearance until a definitive ...

Dropped head congenital muscular dystrophy caused by de novo mutations in LMNA.

PubMed

Karaoglu, Pakize; Quizon, Nicolas; Pergande, Matthias; Wang, Haicui; Polat, Ayşe Ipek; Ersen, Ayca; Özer, Erdener; Willkomm, Lena; Hiz Kurul, Semra; Heredia, Raúl; Yis, Uluç; Selcen, Duygu; Çirak, Sebahattin

2017-04-01

Dropped head syndrome is an easily recognizable clinical presentation of Lamin A/C-related congenital muscular dystrophy. Patients usually present in the first year of life with profound neck muscle weakness, dropped head, and elevated serum creatine kinase. Two patients exhibited head drop during infancy although they were able to sit independently. Later they developed progressive axial and limb-girdle weakness. Creatine kinase levels were elevated and muscle biopsies of both patients showed severe dystrophic changes. The distinctive clinical hallmark of the dropped head led us to the diagnosis of Lamin A/C-related congenital muscular dystrophy, with a pathogenic de novo mutation p.Glu31del in the head domain of the Lamin A/C gene in both patients. Remarkably, one patient also had a central involvement with white matter changes on brain magnetic resonance imaging. Lamin A/C-related dropped-head syndrome is a rapidly progressive congenital muscular dystrophy and may lead to loss of ambulation, respiratory insufficiency, and cardiac complications. Thus, the genetic diagnosis of dropped-head syndrome as L-CMD and the implicated clinical care protocols are of vital importance for these patients. This disease may be underdiagnosed, as only a few genetically confirmed cases have been reported. Copyright © 2016 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

Adrenal venous sampling in primary aldosteronism: multinomial regression modeling to detect aldosterone secretion lateralization when right adrenal sampling is missing.

PubMed

Durivage, Camille; Blanchette, Rémi; Soulez, Gilles; Chagnon, Miguel; Gilbert, Patrick; Giroux, Marie-France; Bourdeau, Isabelle; Oliva, Vincent L; Lacroix, André; Therasse, Eric

2017-02-01

Difficulty to recognize or canulate the right adrenal vein is the most frequent cause of adrenal venous sampling (AVS) failure. We aimed to assess multinomial regression modeling (MRM) of peripheral and left adrenal vein samplings to detect lateralization of aldosterone secretion when the right AVS is missing. Simultaneous bilateral AVS samplings were performed before (basal) and after intravenous cosyntropin injection in 188 consecutive patients between December 1989 and September 2015. Different reference standards for lateralization of aldosterone secretion were defined for basal and for postcosyntropin AVS and according to lateralization index cutoffs at least 2 and at least 4. MRMs were built to detect lateralization of aldosterone secretion according to these reference standards using only peripheral and left adrenal veins samplings (without the right AVS). Detection accuracy was assessed by the area under the receiver operating characteristic (AUROC) curves and detection sensitivities were reported for specificity at least 95%. For basal AVS with lateralization index at least 2, AUROC were respectively 0.931 [95% confidence interval (CI) 0.894-0.968] and 0.922 (95% CI 0.882-0.962) for right and left lateralization of aldosterone secretion detection and MRM could detect respectively 65.5 and 62.7% of the right and left lateralization of aldosterone secretion. For AVS after cosyntropin with lateralization index at least 4, AUROC were respectively 0.964 (95% CI: 0.940-0.987) and 0.955 (95% CI: 0.927-0.983) for right and left lateralization of aldosterone secretion, and MRM could detect respectively 77.2 and 72.9% of the right and left lateralization of aldosterone secretion. MRM can detect lateralization of aldosterone secretion without the right AVS in most patients and could eliminate the need for repeat AVS when right adrenal vein canulation is nonselective or impossible.

[A case of strangulated congenital diaphragmatic hernia with necrosis and rupture of the colon and herniation into a left hemithorax in an adult (author's transl)].

PubMed

Sarris, M; Georgoulis, J; Gatos, M; Dariotis, A

This is a case report of a successful repair of congenital diaphragmatic hernia in a 48 years old male that contained the transverse colon which was strangulated and ruptured in the left thoracic cavity. It was approached in two stages. First through a laparotomy the proximal part of the transverse colon was divided. The side going to the hernial sac was sutured and the proximal stump was anastomosed to the descending colon. In a second stage, two days later, through a felt thoracotomy the strangulated and ruptured colon was resected and the distal stump of the transverse colon was sutured and the hernia repaired.

[Give attention to standardized management of orbital development in Chinese with microphthalmos or anophthalmos].

PubMed

Li, Dong-mei

2013-08-01

Congenital and acquired microphthalmos or anophthalmos are common ocular disorders that cause facial disfigurement in children. It is important to have timely and reasonable treatment to promote orbital growth. At present status, many patients miss the optimum opportunity for orbital reconstruction because of non-standardized management in China. The correct management for promoting orbital growth in microphthalmos or anophthalmos is thus elaborated. Conformers with progressively increasing size can be used in children at 1-3 years of age; while orbital implants could be used after 3-5 years of age. Rational and regular evaluation of the efficacy is critical for guiding the treatment process.

Three-unit bridge construction in anterior single-pontic areas using a metal-free restorative.

PubMed

Narcisi, E M

1999-02-01

A new glass-ceramic material, IPS Empress 2, is revolutionizing esthetic restorative dentistry by allowing metal-free, three-unit bridge construction in anterior and premolar single-pontic areas. The case discussed in this article illustrates the material's application in the dual-arch restoration of a young woman with congenitally missing teeth. The material was used as an alternative to single-tooth implant restorations to place two maxillary three-unit bridges, one mandibular three-unit bridge, and two mandibular porcelain veneers. IPS Empress 2 provides an esthetic alternative to porcelain-fused-to-metal restorations by facilitating attractive, functional tooth restoration.

Nasal Glial Heterotopia with Cleft Palate.

PubMed

Chandna, Sudhir; Mehta, Milind A; Kulkarni, Abhishek Kishore

2018-01-01

Congenital midline nasal masses are rare anomalies of which nasal glial heterotopia represents an even rarer subset. We report a case of a 25-day-old male child with nasal glial heterotopia along with cleft palate suggesting embryonic fusion anomaly which was treated with excision and primary closure for nasal mass followed by palatal repair at later date.

Sparing of Sensitivity to Biological Motion but Not of Global Motion after Early Visual Deprivation

ERIC Educational Resources Information Center

Hadad, Bat-Sheva; Maurer, Daphne; Lewis, Terri L.

2012-01-01

Patients deprived of visual experience during infancy by dense bilateral congenital cataracts later show marked deficits in the perception of global motion (dorsal visual stream) and global form (ventral visual stream). We expected that they would also show marked deficits in sensitivity to biological motion, which is normally processed in the…

Fourth Branchial Anomaly Presenting with a Lateral Neck Mass in a Neonate

PubMed Central

Yoo, Tae-Kyung; Kim, Soo-Hong; Kim, Ha-Shin; Park, Kwi-Won

2014-01-01

Branchial cleft anomalies are an important differential diagnosis in congenital neck masses in infants. The third and fourth branchial anomalies are rare branchial cleft anomalies, which are hard to differentiate. We report here an uncommon case of the fourth branchial anomaly that was presented as an asymptomatic neck mass in a neonate. PMID:26023505

Fourth branchial anomaly presenting with a lateral neck mass in a neonate.

PubMed

Yoo, Tae-Kyung; Kim, Soo-Hong; Kim, Ha-Shin; Kim, Hyun-Young; Park, Kwi-Won

2014-01-01

Branchial cleft anomalies are an important differential diagnosis in congenital neck masses in infants. The third and fourth branchial anomalies are rare branchial cleft anomalies, which are hard to differentiate. We report here an uncommon case of the fourth branchial anomaly that was presented as an asymptomatic neck mass in a neonate.

Baseline Characteristics and Gender Differences in Prepubertal Children Treated with Growth Hormone in Europe, USA, and Japan: 25 Years' KIGS® Experience (1987-2012) and Review.

PubMed

Ranke, Michael B; Lindberg, Anders; Tanaka, Toshiaki; Camacho-Hübner, Cecilia; Dunger, David B; Geffner, Mitchell E

2017-01-01

Information about disease-specific and gender-associated differences over longer time of short children treated with recombinant human growth hormone is missing. We analyzed data at growth hormone (GH) start in prepubertal children diagnosed with idiopathic GH deficiency (IGHD), congenital GHD, acquired GHD, idiopathic short stature (ISS), and born small for gestational age (SGA) enrolled (1987-2012) in the Pfizer International Growth Study (KIGS®) from Europe, USA, and Japan. The demographic characteristics of patients in the three regions were similar. There was a diagnosis-specific pattern for age and height, and a universal pattern showing that girls were younger and smaller at GH start. There was a predominance of males with IGHD (n = 25,703; 70.1%), congenital GHD (n = 2,860; 63.9%), acquired GHD (n = 3,280; 63.9%), ISS (n = 4,327; 71.4%), and SGA (n = 5,848; 58.0%). Male prevalence in the USA population was more pronounced in IGHD, ISS, and SGA, but less so in congenital and acquired GHD. In IGHD (Europe and Japan) and ISS (Europe), there was a trend toward decreasing male prevalence. The male prevalence in prepubertal children treated with GH varies according to geographical region and is not explained by the underlying diagnoses. A global appreciation of gender biases is required for the proper care of short girls. © 2016 S. Karger AG, Basel.

[Distal femoral osteotomy using a lateral opening wedge technique].

PubMed

Feucht, M J; Mehl, J; Forkel, P; Imhoff, A B; Hinterwimmer, S

2017-08-01

To shift the weight-bearing axis of the lower limb medially by opening a lateral-based metaphyseal osteotomy at the distal femur. Femoral-based valgus malalignment and symptomatic lateral unicompartimental osteoarthritis, lateral hyperpression syndrome, cartilage therapy of the lateral compartment, lateral meniscal replacement/transplantation, medial instability with valgus thrust, reconstruction of the medial collateral ligament, patellar instability and/or maltracking. Advanced cartilage damage (>grade 2) or subtotal meniscal loss of the medial compartment, age >65 years (relative), nicotine abuse, body mass index >30, flexion contracture >25°, corrections with a wedge base >10 mm in case of congenital deformities, inflammatory or septic arthritis, severe osteoporosis. Lateral approach to the distal femur; biplanar osteotomy (frontal + axial osteotomy), gradual opening of the osteotomy, osteotomy fixation with a locking plate. Free range of motion. Partial weight bearing with 20 kg for 2 weeks, followed by progressive weight bearing thereafter. Mean improvement of knee scores from 20-30 points and mean 10-year survival rate of 80% in patients with lateral unicompartimental osteoarthritis. Mean complication rate of 9%.

A Big Five Personality Typology in Adolescents with Congenital Heart Disease: Prospective Associations with Psychosocial Functioning and Perceived Health.

PubMed

Rassart, Jessica; Luyckx, Koen; Goossens, Eva; Oris, Leen; Apers, Silke; Moons, Philip

2016-06-01

This study aimed (1) to identify different personality types in adolescents with congenital heart disease (CHD), and (2) to relate these personality types to psychosocial functioning and several domains of perceived health, both concurrently and prospectively. Hence, this study aimed to expand previous research by adopting a person-centered approach to personality through focusing on personality types rather than singular traits. Adolescents with CHD were selected from the database of pediatric and congenital cardiology of the University Hospitals Leuven. A total of 366 adolescents (15-20 years old) with CHD participated at time 1. These adolescents completed questionnaires on the Big Five personality traits, depressive symptoms, loneliness, and generic and disease-specific domains of health. Nine months later, 313 patients again completed questionnaires. Cluster analysis at time 1 revealed three personality types: resilients (37 %), undercontrollers (34 %), and overcontrollers (29 %), closely resembling typologies obtained in previous community samples. Resilients, under-, and overcontrollers did not differ in terms of disease complexity, but differed on depressive symptoms, loneliness, and generic and disease-specific domains of perceived health at both time-points. Overall, resilients showed the most favorable outcomes and overcontrollers the poorest, with undercontrollers scoring in-between. Personality assessment can help clinicians in identifying adolescents at risk for physical and psychosocial difficulties later in time. In this study, both over- and undercontrollers were identified as high-risk groups. Our findings show that both personality traits and types should be taken into account to obtain a detailed view on the associations between personality and health.

Rapid iconic erasure without masking.

PubMed

Tijus, Charles Albert; Reeves, Adam

2004-01-01

We report on the erasure of the iconic memory of an array of 12 black letters flashed on a continuously- present white field. Erasure is accomplished by replacing the 16 ms letter array (frame 1) with a blank white frame for 16 ms (frame 2). The letter array returns in frame 3, with from one to six letters missing. Report of the missing letters is accurate without the blank white frame but is impoverished with it, as if interposing the blank erases the icon. Erasure occurs without any obvious luminance masking, 'mud splashes', pattern masking (backward, forward, or metacontrast), lateral masking, or masking by object substitution. Erasure is greatly decreased if the blank is presented one frame earlier or later. We speculate that erasure is due to a rapid reset of the icon produced by an informational mis-match.

En-masse protraction of mandibular posterior teeth into missing mandibular lateral incisor spaces using a fixed functional appliance.

PubMed

Chhibber, Aditya; Upadhyay, Madhur

2016-11-01

Protraction of mandibular posterior teeth requiring absolute anchorage has always been a challenge, especially when the space is located in the anterior region, since more teeth must be protracted. Traditionally, skeletal anchorage devices have been used for anchorage reinforcement during protraction. However, drawbacks such as requirement of a surgical step, inability to tolerate heavy forces, and patient willingness to undergo such surgical procedures can be limiting factors. Additionally, the mechanics involved can sometimes create undesirable side effects, thereby limiting their application in such situations. This report describes the use of a fixed functional appliance as an anchorage-reinforcement device for en-masse protraction of mandibular posterior teeth into a missing lateral incisor space. Copyright © 2016 American Association of Orthodontists. Published by Elsevier Inc. All rights reserved.

Adolescent socioeconomic status and depressive symptoms in later life: Evidence from structural equation models.

PubMed

Pino, Elizabeth C; Damus, Karla; Jack, Brian; Henderson, David; Milanovic, Snezana; Kalesan, Bindu

2018-01-01

The complex association between socioeconomic status (SES) and depressive symptoms is not entirely understood and the existing literature does not address the relationship between early-life SES and later-life depression from a life-course perspective, incorporating mediating events. Using data from the Wisconsin Longitudinal Study, we employed structural equation modeling to examine how SES measured at age 18 affects depressive symptoms at age 54 directly and through mediating variables college graduation, marriage, and household income level at age 36. The total effect of adolescent SES on later-life depressive symptoms is largely mediated through college graduation. Our final model was driven by the effects of women. The variables contributing most to depressive symptoms in women were the direct effect of being raised in a home with a low SES and the indirect effect of low adolescent SES mediated through non-completion of college. Cohort was exclusively comprised of white, high school graduates born in 1939 (± 2 years). In our analysis we assume that missing values are missing at random (MAR); however, attrition both from death (excluded from our population) and from non-response could be associated with depression, i.e. missing not at random (MNAR). This study demonstrates the impact of completion of college, particularly among women, and supports the social mobility hypothesis to explain the relationship between adolescent socioeconomic circumstances and late-life health. Copyright © 2017 Elsevier B.V. All rights reserved.

TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization.

PubMed

Wallmeier, Julia; Shiratori, Hidetaka; Dougherty, Gerard W; Edelbusch, Christine; Hjeij, Rim; Loges, Niki T; Menchen, Tabea; Olbrich, Heike; Pennekamp, Petra; Raidt, Johanna; Werner, Claudius; Minegishi, Katsura; Shinohara, Kyosuke; Asai, Yasuko; Takaoka, Katsuyoshi; Lee, Chanjae; Griese, Matthias; Memari, Yasin; Durbin, Richard; Kolb-Kokocinski, Anja; Sauer, Sascha; Wallingford, John B; Hamada, Hiroshi; Omran, Heymut

2016-08-04

Multiprotein complexes referred to as outer dynein arms (ODAs) develop the main mechanical force to generate the ciliary and flagellar beat. ODA defects are the most common cause of primary ciliary dyskinesia (PCD), a congenital disorder of ciliary beating, characterized by recurrent infections of the upper and lower airways, as well as by progressive lung failure and randomization of left-right body asymmetry. Using a whole-exome sequencing approach, we identified recessive loss-of-function mutations within TTC25 in three individuals from two unrelated families affected by PCD. Mice generated by CRISPR/Cas9 technology and carrying a deletion of exons 2 and 3 in Ttc25 presented with laterality defects. Consistently, we observed immotile nodal cilia and missing leftward flow via particle image velocimetry. Furthermore, transmission electron microscopy (TEM) analysis in TTC25-deficient mice revealed an absence of ODAs. Consistent with our findings in mice, we were able to show loss of the ciliary ODAs in humans via TEM and immunofluorescence (IF) analyses. Additionally, IF analyses revealed an absence of the ODA docking complex (ODA-DC), along with its known components CCDC114, CCDC151, and ARMC4. Co-immunoprecipitation revealed interaction between the ODA-DC component CCDC114 and TTC25. Thus, here we report TTC25 as a new member of the ODA-DC machinery in humans and mice. Copyright © 2016 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

Low birth weight among term newborns in Wolaita Sodo town, South Ethiopia: a facility based cross-sectional study.

PubMed

Kastro, Samson; Demissie, Tsegaye; Yohannes, Bereket

2018-05-11

In low income countries, many low birth weight newborns often miss the chance for survival sooner or later. Others who survive would also face increased risks in later life. Though not adequately documented in Ethiopia, maternal factors pose the main risk. This study was aimed to estimate the proportion of low birth weight among term singletons without congenital malformations and factors associated with it in Wolaita Sodo town in South Ethiopia. We did a facility based survey involving 432 postpartum women with their term newborns. Data was collected through face to face interview from March to April in 2016. The outcome measure was newborn birth weight. Bivariate logistic regression was applied to look for crude associations. Multivariate logistic regression analysis was done to adjust for potential confounders to identify independent predictors. Adjusted Odds Ratio (AOR) and 95% confidence intervals (CI), and statistical significance at P < 0.05 were reported. The proportion of term low birth weight was 8.1% in the study area. Women who had less education (AOR = 6.23; 95% CI = 1.68, 23.1), house wives (AOR = 5.85; 95% CI = 1.40, 24.3) and not frequently consuming fruits during pregnancy (AOR 11.3; 95% CI = 1.98, 64.9) had a higher risk of having term low birth weight newborns. We documented a lesser odds of those from rural settings to have low birth weight newborns as compared to their counter urban equivalents (AOR = 0.06; 95% CI = 0.006, 0.6). Dietary counselling to pregnant mothers specific diet and nutrition including fruit diets in particular might contribute to reduce the risk of term low birth weight. Better education might have enabled women to prefer diets and their job engagements might also have capacitated them to decide on dietary preferences.

Investigating the variability of memory distortion for an analogue trauma.

PubMed

Strange, Deryn; Takarangi, Melanie K T

2015-01-01

In this paper, we examine whether source monitoring (SM) errors might be one mechanism that accounts for traumatic memory distortion. Participants watched a traumatic film with some critical (crux) and non-critical (non-crux) scenes removed. Twenty-four hours later, they completed a memory test. To increase the likelihood participants would notice the film's gaps, we inserted visual static for the length of each missing scene. We then added manipulations designed to affect people's SM behaviour. To encourage systematic SM, before watching the film, we warned half the participants that we had removed some scenes. To encourage heuristic SM some participants also saw labels describing the missing scenes. Adding static highlighting, the missing scenes did not affect false recognition of those missing scenes. However, a warning decreased, while labels increased, participants' false recognition rates. We conclude that manipulations designed to affect SM behaviour also affect the degree of memory distortion in our paradigm.

Post-Flight Test Results of Acousto-Optic Modulator Devices Subjected to Space Exposure

NASA Technical Reports Server (NTRS)

Prasad, Narasimha S.; Trivedi, Sudhir; Rosemeier, Jolanta; Diestler, Mark

2014-01-01

The objective of the Materials International Space Station Experiment (MISSE) is to study the performance of novel materials when subjected to the synergistic effects of the harsh space environment for several months. MISSE missions provide an opportunity for developing space qualifiable materials. Several laser and lidar components were sent by NASA Langley Research Center (LaRC) as a part of the MISSE 7 mission. The MISSE 7 module was transported to the international space station (ISS) via STS 129 mission that was launched on Nov 16, 2009. Later, the MISSE 7 module was brought back to the earth via the STS 134 that landed on June 1, 2011. The MISSE 7 module that was subjected to exposure in a space environment for more than one and a half years included fiber laser, solid-state laser gain materials, detectors, and semiconductor laser diode. Performance testing of these components is now progressing. In this paper, the results of performance testing of a laser diode module sent by NASA Langley Research Center on MISSE 7 mission will be discussed. This paper will present the comparison of pre-flight and post-flight performance of two different COTS acousto-optic modulator (AOM) devices. Post-flight measurements indicate that these two devices did not undergo any significant performance degradation.

Post-flight test results of acousto-optic modulator devices subjected to space exposure

NASA Astrophysics Data System (ADS)

Prasad, Narasimha S.; Trivedi, Sudhir; Rosemeier, Jolanta; Diestler, Mark

2014-09-01

The objective of the Materials International Space Station Experiment (MISSE) is to study the performance of novel materials when subjected to the synergistic effects of the harsh space environment for several months. MISSE missions provide an opportunity for developing space qualifiable materials. Several laser and lidar components were sent by NASA Langley Research Center (LaRC) as a part of the MISSE 7 mission. The MISSE 7 module was transported to the international space station (ISS) via STS 129 mission that was launched on Nov 16, 2009. Later, the MISSE 7 modulewas brought back to the earth via the STS 134 that landed on June 1, 2011. The MISSE 7 module that was subjected to exposure in space environment for more than one and a half year included fiber laser, solid-state laser gain materials, detectors, and semiconductor laser diode. Performance testing of these components is now progressing. In this paper, the results of performance testing of a laser diode module sent by NASA Langley Research Center on MISSE 7 mission will be discussed. This paper will present the comparison of pre-flight and post-flight performance of two different COTS acousto-optic modulator devices. Post-flight measurements indicate that these two devices did not undergo any significant performance degradation.

Nasal glial heterotopia or congenital hemangioma? A case report.

PubMed

Lartizien, R; Durand, C; Blaise, S; Morand, B

2017-10-01

Nasal glial heterotopia (NGH) is a rare benign tumor of the median line. We describe the case of a child presenting a lateral nasal mass. The characteristics of the prenatal ultrasound and the postnatal clinical examination argued in favor of a congenital hemangioma (CH). The MRI performed at 6 weeks of life suggested glial heterotopia. This diagnosis was confirmed by the pathological analysis. Congenital hemangiomas and nasal glial heterotopies have similar clinical presentations. Prenatal ultrasound diagnosis between NGH and CH is difficult. Fetal MRI is not yet highly specific for these two lesions, but it can eliminate an intracerebral connection in cases of NGH. Postnatal exams are more specific. Flow on the Doppler exam is rapid for CH and slow for NGH. On MRI, these two lesions appear as a hypersignal on T2-weighted sequences, but less intense for NGH than for CH. Distinguishing between NGH and CH can be difficult. This does not have a direct incidence on treatment because it is surgical in both cases. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

Rare case of massive congenital bilateral chylothorax in a hydropic fetus with true mosaicism 47,XXX/46,XX.

PubMed

Cremonini, Giorgio; Poggi, Alice; Capucci, Roberta; Vesce, Fortunato; Patella, Alfredo; Marci, Roberto

2014-01-01

Fetal congenital chylothorax is a rare condition that occurs sporadically or can be associated with abnormal karyotype or structural chromosomal anomalies. We report a unique case of fetal congenital bilateral chylothorax associated with mosaicism 47,XXX/46,XX. A female fetus affected by massive bilateral hydrothorax and ascites was diagnosed at 34(+1) weeks of gestation. Previous ultrasonographic exams were completely normal. Immune causes of hydrops were excluded. Elective cesarean section was performed soon after bilateral thoracocentesis. The analysis of drained pleural fluid revealed its lymphatic nature. The fetal karyotyping, performed on chorionic villi at the 11th week, had shown mosaicism 47,XXX/46,XX, later confirmed in the newborn's blood. We hypothesized that chylothorax may be part of the phenotypic spectrum of 47 XXX karyotype and we suggest an ultrasound follow-up of the fetus at closer intervals than the routine timing for this condition, even if it is not usually characterized by severe phenotypic features. © 2013 The Authors. Journal of Obstetrics and Gynaecology Research © 2013 Japan Society of Obstetrics and Gynecology.

Hirschsprung disease and hepatoblastoma: case report of a rare association.

PubMed

Pinto, Raquel Borges; Ramos, Ana Regina Lima; Backes, Ariane Nadia; Santos, Beatriz John Dos; Provenzi, Valentina Oliveira; Carbonera, Mário Rafael; Roenick, Maria Lúcia; Santos, Pedro Paulo Albino Dos; Falhauber, Fabrizia; Souza, Meriene Viquetti de; Bassols, João Vicente; Artigalás, Osvaldo

2016-04-01

Hirschsprung disease is a developmental disorder of the enteric nervous system that is characterized by absence of ganglion cells in the distal intestine, and it occurs in approximately 1 in every 500,000 live births. Hepatoblastoma is a malignant liver neoplasm that usually occurs in children aged 6 months to 3 years, with a prevalence of 0.54 cases per 100,000. A boy diagnosed with intestinal atresia in the first week of life progressed to a diagnosis of comorbid Hirschsprung disease. Congenital cataracts and sensorineural deafness were diagnosed. A liver mass developed and was subsequently confirmed to be a hepatoblastoma, which was treated by means of surgical resection of 70% of the liver volume and neoadjuvant chemotherapy (ifosfamide, cisplatin and doxorubicin). It is known that Hirschsprung disease may be associated with syndromes predisposing towards cancer, and that hepatoblastoma may also be associated with certain congenital syndromes. However, co-occurrence of hepatoblastoma and Hirschsprung disease has not been previously described. We have reported a case of a male patient born with ileal atresia, Hirschsprung disease and bilateral congenital cataract who was later diagnosed with hepatoblastoma.

Congenital asymptomatic diaphragmatic hernias in adults: a case series.

PubMed

Bianchi, Enrica; Mancini, Paola; De Vito, Stefania; Pompili, Elena; Taurone, Samanta; Guerrisi, Isabella; Guerrisi, Antonino; D'Andrea, Vito; Cantisani, Vito; Artico, Marco

2013-05-13

Congenital diaphragmatic hernia is a major malformation occasionally found in newborns and babies. Congenital diaphragmatic hernia is defined by the presence of an orifice in the diaphragm, more often to the left and posterolateral, that permits the herniation of abdominal contents into the thorax. The aim of this case series is to provide information on the presentation, diagnosis and outcome of three patients with late-presenting congenital diaphragmatic hernias. The diagnosis of congenital diaphragmatic hernia is based on clinical investigation and is confirmed by plain X-ray films and computed tomography scans. In the present report three cases of asymptomatic abdominal viscera herniation within the thorax are described. The first case concerns herniation of some loops of the large intestine into the left hemi-thorax in a 75-year-old Caucasian Italian woman. The second case concerns a rare type of herniation in the right side of the thorax of the right kidney with a part of the liver parenchyma in a 57-year-old Caucasian Italian woman. The third case concerns herniation of the stomach and bowel into the left side of the chest with compression of the left lung in a 32-year-old Caucasian Italian man. This type of hernia may appear later in life, because of concomitant respiratory or gastrointestinal disease, or it may be an incidental finding in asymptomatic adults, such as in the three cases featured here. Patients who present with late diaphragmatic hernias complain of a wide variety of symptoms, and diagnosis may be difficult. Additional investigation and research appear necessary to better explain the development and progression of this type of disease.

Accuracy of the All Patient Refined Diagnosis Related Groups Classification System in Congenital Heart Surgery

PubMed Central

Parnell, Aimee S.; Shults, Justine; Gaynor, J. William; Leonard, Mary B.; Dai, Dingwei; Feudtner, Chris

2015-01-01

Background Administrative data is increasingly used to evaluate clinical outcomes and quality of care in pediatric congenital heart surgery (CHS) programs. Several published analyses of large pediatric administrative datasets have relied on the All Patient Refined Diagnosis Related Groups (APR-DRG, version 24) diagnostic classification system. The accuracy of this classification system for patients undergoing CHS is unclear. Methods We performed a retrospective cohort study of all 14,098 patients 0-5 years of age undergoing any of six selected congenital heart operations, ranging in complexity from isolated closure of a ventricular septal defect to single ventricle palliation, at 40 tertiary care pediatric centers in the Pediatric Health Information Systems database between 2007 and 2010. Assigned APR-DRGs (cardiac versus non-cardiac) were compared using chi-squared or Fisher's exact tests between those patients admitted during the first day of life versus later and between those receiving extracorporeal membrane oxygenation support versus not. Recursive partitioning was used to assess the greatest determinants of APR-DRG type in the model. Results Every patient admitted on day of life 1 was assigned to a non-cardiac APR-DRG (p < 0.001 for each procedure). Similarly, use of extracorporeal membrane oxygenation was highly associated with misclassification of congenital heart surgery patients into a non-cardiac APR-DRG (p < 0.001 for each procedure). Cases misclassified into a non-cardiac APR-DRG experienced a significantly increased mortality (p < 0.001). Conclusions In classifying patients undergoing congenital heart surgery, APR-DRG coding has systematic misclassifications, which may result in inaccurate reporting of CHS case volumes and mortality. PMID:24200398

Torsional ARC Effectively Expands the Visual Field in Hemianopia

PubMed Central

Satgunam, PremNandhini; Peli, Eli

2012-01-01

Purpose Exotropia in congenital homonymous hemianopia has been reported to provide field expansion that is more useful when accompanied with harmonios anomalous retinal correspondence (HARC). Torsional strabismus with HARC provides a similar functional advantage. In a subject with hemianopia demonstrating a field expansion consistent with torsion we documented torsional strabismus and torsional HARC. Methods Monocular visual fields under binocular fixation conditions were plotted using a custom dichoptic visual field perimeter (DVF). The DVF was also modified to measure perceived visual directions under dissociated and associated conditions across the central 50° diameter field. The field expansion and retinal correspondence of a subject with torsional strabismus (along with exotropia and right hypertropia) with congenital homonymous hemianopia was compared to that of another exotropic subject with acquired homonymous hemianopia without torsion and to a control subject with minimal phoria. Torsional rotations of the eyes were calculated from fundus photographs and perimetry. Results Torsional ARC documented in the subject with congenital homonymous hemianopia provided a functional binocular field expansion up to 18°. Normal retinal correspondence was mapped for the full 50° visual field in the control subject and for the seeing field of the acquired homonymous hemianopia subject, limiting the functional field expansion benefit. Conclusions Torsional strabismus with ARC, when occurring with homonymous hemianopia provides useful field expansion in the lower and upper fields. Dichoptic perimetry permits documentation of ocular alignment (lateral, vertical and torsional) and perceived visual direction under binocular and monocular viewing conditions. Evaluating patients with congenital or early strabismus for HARC is useful when considering surgical correction, particularly in the presence of congenital homonymous hemianopia. PMID:22885782

Adverse outcome of using tilmicosin in a lamb with multiple ventricular septal defects.

PubMed

Christodoulopoulos, Georgios

2009-01-01

A 15-day-old, 6.08 kg, lamb was injected subcutaneously with tilmicosin 15 mg/kg body weight. Approximately 15 min later, the lamb died. During necropsy, the heart was found to have multiple ventricular septal defects. Death was attributed to sudden heart failure due to the cardiac effects of tilmicosin in a heart having congenital defects.

Moebius syndrome with Dandy-Walker variant and agenesis of corpus callosum.

PubMed

John, Jomol Sara; Vanitha, R

2013-09-01

Moebius syndrome is a rare congenital neurological disorder. The most frequent mode of presentation is facial diplegia with bilateral lateral rectus palsy, but there are variations. Here, we report a rare case of Moebius syndrome in a 15-month-old child with unilateral facial palsy, bilateral abducens nerve palsy with Dandy Walker variant, and complete agenesis of corpus callosum.

Diffusion tensor imaging demonstrates brainstem and cerebellar abnormalities in congenital central hypoventilation syndrome.

PubMed

Kumar, Rajesh; Macey, Paul M; Woo, Mary A; Alger, Jeffry R; Harper, Ronald M

2008-09-01

Congenital central hypoventilation syndrome (CCHS) patients show reduced breathing drive during sleep, decreased hypoxic and hypercapnic ventilatory responses, and autonomic and affective deficits, suggesting both brainstem and forebrain injuries. Forebrain damage was previously described in CCHS, but methodological limitations precluded detection of brainstem injury, a concern because genetic mutations in CCHS target brainstem autonomic nuclei. To assess brainstem and cerebellar areas, we used diffusion tensor imaging-based measures, namely axial diffusivity, reflecting water diffusion parallel to fibers, and sensitive to axonal injury, and radial diffusivity, measuring diffusion perpendicular to fibers, and indicative of myelin injury. Diffusion tensor imaging was performed in 12 CCHS and 26 controls, and axial and radial diffusivity maps were compared between groups using analysis of covariance (covariates; age and gender). Increased axial diffusivity in CCHS appeared within the lateral medulla and clusters with injury extended from the dorsal midbrain through the periaqueductal gray, raphé, and superior cerebellar decussation, ventrally to the basal-pons. Cerebellar cortex and deep nuclei, and the superior and inferior cerebellar peduncles showed increased radial diffusivity. Midbrain, pontine, and lateral medullary structures, and the cerebellum and its fiber systems are injured in CCHS, likely contributing to the characteristics found in the syndrome.

Care of the infant of the diabetic mother.

PubMed

Hay, William W

2012-02-01

Gestational diabetes mellitus (GDM) from all causes of diabetes is the most common medical complication of pregnancy and is increasing in incidence, particularly as type 2 diabetes continues to increase worldwide. Despite advances in perinatal care, infants of diabetic mothers (IDMs) remain at risk for a multitude of physiologic, metabolic, and congenital complications such as preterm birth, macrosomia, asphyxia, respiratory distress, hypoglycemia, hypocalcemia, hyperbilirubinemia, polycythemia and hyperviscosity, hypertrophic cardiomyopathy, and congenital anomalies, particularly of the central nervous system. Overt type 1 diabetes around conception produces marked risk of embryopathy (neural tube defects, cardiac defects, caudal regression syndrome), whereas later in gestation, severe and unstable type 1 maternal diabetes carries a higher risk of intrauterine growth restriction, asphyxia, and fetal death. IDMs born to mothers with type 2 diabetes are more commonly obese (macrosomic) with milder conditions of the common problems found in IDMs. IDMs from all causes of GDM also are predisposed to later-life risk of obesity, diabetes, and cardiovascular disease. Care of the IDM neonate needs to focus on ensuring adequate cardiorespiratory adaptation at birth, possible birth injuries, maintenance of normal glucose metabolism, and close observation for polycythemia, hyperbilirubinemia, and feeding intolerance.

Cleft palate caused by congenital teratoma.

PubMed

Veyssière, Alexis; Streit, Libor; Traoré, Hamady; Bénateau, Hervé

2017-02-01

A cleft palate results from incomplete fusion of the lateral palatine processes, the median nasal septum and the median palatine process. This case report describes a rare case of congenital teratoma originating from the nasal septum that may have interfered with the fusion of the palatal shelves during embryonic development, resulting in a cleft palate. An infant girl was born at 40 weeks of gestation weighing 3020 g with a complete cleft palate associated with a large central nasopharyngeal tumour. Computed tomography (CT) of the head showed a well defined mass of mixed density. The tumour was attached to the nasal septum in direct contact with the cleft palate. A biopsy confirmed the teratoma. Tumour resection was performed at 5 months, soft palate reconstruction at 7 months and hard palate closure at 14 months. There was no sign of local recurrence 1 year later. Most teratomas are benign and the prognosis is usually good. However, recurrence is not rare if germ cell carcinomatous foci are present within the teratoma. For these reasons, we advocate the use of a two-stage procedure in which closure of the cleft palate is postponed until histological examination confirms complete excision of the teratoma.

Entrance radiation doses during paediatric cardiac catheterisations performed for diagnosis or the treatment of congenital heart disease.

PubMed

Papadopoulou, D; Yakoumakis, Em; Sandilos, P; Thanopoulos, V; Makri, Tr; Gialousis, G; Houndas, D; Yakoumakis, N; Georgiou, Ev

2005-01-01

The purpose of this study was to estimate the radiation exposure of children, during cardiac catheterisations for the diagnosis or treatment of congenital heart disease. Radiation doses were estimated for 45 children aged from 1 d to 13 y old. Thermoluminescent dosemeters (TLDs) were used to estimate the posterior entrance dose (DP), the lateral entrance dose (DLAT), the thyroid dose and the gonads dose. A dose-area product (DAP) meter was also attached externally to the tube of the angiographic system and gave a direct value in mGy cm2 for each procedure. Posterior and lateral entrance dose values during cardiac catheterisations ranged from 1 to 197 mGy and from 1.1 to 250.3 mGy, respectively. Radiation exposure to the thyroid and the gonads ranged from 0.3 to 8.4 mGy to 0.1 and 0.7 mGy, respectively. Finally, the DAP meter values ranged between 360 and 33,200 mGy cm2. Radiation doses measured in this study are comparable with those reported to previous studies. Moreover, strong correlation was found between the DAP values and the entrance radiation dose measured with TLDs.

The incidence and treatment of rocker bottom deformity as a complication of the conservative treatment of idiopathic congenital clubfoot.

PubMed

Koureas, G; Rampal, V; Mascard, E; Seringe, R; Wicart, P

2008-01-01

Rocker bottom deformity may occur during the conservative treatment of idiopathic congenital clubfoot. Between 1975 and 1996, we treated 715 patients (1120 clubfeet) conservatively. A total of 23 patients (36 feet; 3.2%) developed a rocker bottom deformity. It is these patients that we have studied. The pathoanatomy of the rocker bottom deformity is characterised by a plantar convexity appearing between three and six months of age with the hindfoot equinus position remaining constant. The convexity initially involves the medial column, radiologically identified by the talo-first metatarsal angle and secondly by the lateral column, revealed radiologically as the calcaneo-fifth metatarsal angle. The apex of the deformity is usually at the midtrasal with a dorsal calcaneocuboid subluxation. Ideal management of clubfoot deformity should avoid this complication, with adequate manipulation and splinting and early Achilles' percutaneous tenotomy if plantar convexity occurs. Adequate soft-tissue release provides satisfactory correction for rocker bottom deformity. However, this deformity requires more extensive and complex procedures than the standard surgical treatment of clubfoot. The need for lateral radiographs to ensure that the rocker bottom deformity is recognised early, is demonstrated.

Characterizing cardiac dysfunction in fetuses with left congenital diaphragmatic hernia.

PubMed

Cruz-Lemini, Mónica; Valenzuela-Alcaraz, Brenda; Granados-Montiel, Julio; Martínez, Josep M; Crispi, Fátima; Gratacós, Eduard; Cruz-Martínez, Rogelio

2018-03-23

To evaluate cardiac function by conventional echocardiography and tissue Doppler imaging in fetuses with left congenital diaphragmatic hernia (CDH). Conventional echocardiography (myocardial performance index, ventricular filling velocities, and E/A ratios) and tissue Doppler imaging (annular myocardial peak velocities, E/E' and E'/A' ratios) in mitral, septal, and tricuspid annulus were evaluated in a cohort of 31 left-sided CDH fetuses and compared with 75 controls matched for gestational age 2:1. In comparison to controls, CDH fetuses had prolonged isovolumetric time periods (isovolumetric contraction time 35 ms vs 28 ms, P < .001), with higher myocardial performance index (0.49 vs 0.42, P < .001) and tricuspid E/A ratios (0.77 vs 0.72, P = .033). Longitudinal function assessed by tissue Doppler showed signs of impaired relaxation (mitral lateral A' 8.0 vs 10.1 cm/s, P < .001 and an increased mitral lateral E'/A' ratio 0.93 vs 0.78, P < .001) in the CDH fetuses as compared with controls, with preserved systolic function. Left CDH fetuses show echocardiographic signs of diastolic dysfunction, probably secondary to fetal heart compression, maintaining a preserved systolic function. © 2018 John Wiley & Sons, Ltd.

Missed Opportunities for Hepatitis A Vaccination, National Immunization Survey-Child, 2013.

PubMed

Casillas, Shannon M; Bednarczyk, Robert A

2017-08-01

To quantify the number of missed opportunities for vaccination with hepatitis A vaccine in children and assess the association of missed opportunities for hepatitis A vaccination with covariates of interest. Weighted data from the 2013 National Immunization Survey of US children aged 19-35 months were used. Analysis was restricted to children with provider-verified vaccination history (n = 13 460). Missed opportunities for vaccination were quantified by determining the number of medical visits a child made when another vaccine was administered during eligibility for hepatitis A vaccine, but hepatitis A vaccine was not administered. Cross-sectional bivariate and multivariate polytomous logistic regression were used to assess the association of missed opportunities for vaccination with child and maternal demographic, socioeconomic, and geographic covariates. In 2013, 85% of children in our study population had initiated the hepatitis A vaccine series, and 60% received 2 or more doses. Children who received zero doses of hepatitis A vaccine had an average of 1.77 missed opportunities for vaccination compared with 0.43 missed opportunities for vaccination in those receiving 2 doses. Children with 2 or more missed opportunities for vaccination initiated the vaccine series 6 months later than children without missed opportunities. In the fully adjusted multivariate model, children who were younger, had ever received WIC benefits, or lived in a state with childcare entry mandates were at a reduced odds for 2 or more missed opportunities for vaccination; children living in the Northeast census region were at an increased odds. Missed opportunities for vaccination likely contribute to the poor coverage for hepatitis A vaccination in children; it is important to understand why children are not receiving the vaccine when eligible. Copyright © 2017 Elsevier Inc. All rights reserved.

Second branchial cleft anomaly with an ectopic tooth: a case report.

PubMed

Alyono, Jennifer C; Hong, Paul; Page, Nathan C; Malicki, Denise; Bothwell, Marcella R

2014-09-01

Branchial cleft cysts, sinuses, and fistulas are the most common congenital lateral neck lesions in children. They arise as a result of an abnormal development of the branchial arches and their corresponding ectoderm-lined branchial clefts. Of these diverse anomalies, second branchial cleft lesions are the most common, accounting for approximately 95% of all branchial arch pathologies. We describe what is to the best of our knowledge the first reported case of an ectopic tooth in a branchial cleft anomaly. The patient was a young girl who had other congenital abnormalities and syndromic features and who was eventually diagnosed with Townes-Brocks syndrome. We describe the clinical presentation, management, pathologic analysis, and postoperative outcomes of this case, and we present a brief review of Townes-Brocks syndrome.

Rational treatment for multiple digit congenital absence: case report of nonvascularized toe phalangeal transfers and distraction lengthening for symbrachydactyly.

PubMed

Netscher, David T; Richards, Winston T

2006-02-01

A case is discussed in which a young male was born with symbrachydactyly of multiple digits in whom nonvascularized proximal toe phalanges were transferred to the aphalangic digits when he was an infant. This initial surgical procedure was later followed by webspace deepening and ultimately by distraction lengthening of the digits. At 8 years of age, he has a very functional hand with mobile metacarpophalangeal joints in all reconstructed fingers. In fact, he uses this reconstructed right hand as his dominant extremity. The case is discussed in context of phalangeal growth potential, specific indications for this type of reconstruction, and final long-term outcome. This case also helps to recommend rational treatment protocols for similar congenital hand anomalies.

Comparison of 2 Dosages of Stretching Treatment in Infants with Congenital Muscular Torticollis: A Randomized Trial.

PubMed

He, Lu; Yan, Xiaohua; Li, Jinling; Guan, Buyun; Ma, Liying; Chen, Ying; Mai, Jianning; Xu, Kaishou

2017-05-01

To compare the short-term efficacy of 2 dosages of stretching treatment on the clinical outcomes in infants with congenital muscular torticollis. This was a prospective randomized controlled study. Fifty infants with congenital muscular torticollis who were randomly assigned to 100-times stretching group and 50-times stretching group received stretching treatment for the affected sternocleidomastoid muscle. The outcomes including the head tilt, the cervical passive range of motion, and the muscle function of cervical lateral flexors determined by the muscle function scale were assessed at baseline and at 4 and 8 weeks after treatment. The sternocleidomastoid muscle growth analyzed by the thickness ratio of sternocleidomastoid muscles was measured using ultrasonography at baseline and 8 weeks after treatment. Except the ratio of muscle function scale scores, the postintervention outcomes were all significantly improved in both groups compared with baseline (P < 0.05). The 100-times stretching group showed greater improvement compared with 50-times stretching group in head tilt and cervical passive range of motion at 4 and 8 weeks after treatment (P < 0.05). Stretching treatment of 2 dosages may effectively improve head tilt, cervical passive range of motion, and sternocleidomastoid muscle growth in infants with congenital muscular torticollis. The stretching treatment of 100 times per day is likely to associate with greater improvement in head tilt and cervical passive range of motion.

Application of Multiple Imputation for Missing Values in Three-Way Three-Mode Multi-Environment Trial Data

PubMed Central

Tian, Ting; McLachlan, Geoffrey J.; Dieters, Mark J.; Basford, Kaye E.

2015-01-01

It is a common occurrence in plant breeding programs to observe missing values in three-way three-mode multi-environment trial (MET) data. We proposed modifications of models for estimating missing observations for these data arrays, and developed a novel approach in terms of hierarchical clustering. Multiple imputation (MI) was used in four ways, multiple agglomerative hierarchical clustering, normal distribution model, normal regression model, and predictive mean match. The later three models used both Bayesian analysis and non-Bayesian analysis, while the first approach used a clustering procedure with randomly selected attributes and assigned real values from the nearest neighbour to the one with missing observations. Different proportions of data entries in six complete datasets were randomly selected to be missing and the MI methods were compared based on the efficiency and accuracy of estimating those values. The results indicated that the models using Bayesian analysis had slightly higher accuracy of estimation performance than those using non-Bayesian analysis but they were more time-consuming. However, the novel approach of multiple agglomerative hierarchical clustering demonstrated the overall best performances. PMID:26689369

Application of Multiple Imputation for Missing Values in Three-Way Three-Mode Multi-Environment Trial Data.

PubMed

Tian, Ting; McLachlan, Geoffrey J; Dieters, Mark J; Basford, Kaye E

2015-01-01

It is a common occurrence in plant breeding programs to observe missing values in three-way three-mode multi-environment trial (MET) data. We proposed modifications of models for estimating missing observations for these data arrays, and developed a novel approach in terms of hierarchical clustering. Multiple imputation (MI) was used in four ways, multiple agglomerative hierarchical clustering, normal distribution model, normal regression model, and predictive mean match. The later three models used both Bayesian analysis and non-Bayesian analysis, while the first approach used a clustering procedure with randomly selected attributes and assigned real values from the nearest neighbour to the one with missing observations. Different proportions of data entries in six complete datasets were randomly selected to be missing and the MI methods were compared based on the efficiency and accuracy of estimating those values. The results indicated that the models using Bayesian analysis had slightly higher accuracy of estimation performance than those using non-Bayesian analysis but they were more time-consuming. However, the novel approach of multiple agglomerative hierarchical clustering demonstrated the overall best performances.

Prenatal diagnosis of a de novo 9p terminal chromosomal deletion in a fetus with major congenital anomalies.

PubMed

Hou, Wen-Chien; Chen, Chih-Ping; Hwang, Kwei-Shuai; Chen, Ying-Chieh; Lai, Yu-Ju; Tien, Chau-Yang; Su, Her-Young

2014-12-01

We describe a prenatal ultrasonography diagnosis of omphalocele and symbrachydactyly in a fetus and review the literature on prenatal diagnosis of 9p terminal chromosomal deletions. A 31-year-old woman (gravida 3, para 1) was referred for genetic counseling because a fetal omphalocele had been detected. Prenatal ultrasonography at 17+ weeks of gestational age revealed a singleton female fetus with biometry equivalent to 18 weeks with an omphalocele. In addition, symbrachydactyly was also noted in the right arm; the wrist bones as well as the metacarpals were missing. A chromosomal study was arranged for a congenital anomaly involving omphalocele. We obtained Giemsa-banded chromosomes from fetal tissue cells, and an abnormal male karyotype with a terminal deletion of the short arm of chromosome 9 at band 9p13 was noted. After delivery, the fetus showed omphalocele, symbrachydactyly, trigonocephaly, sex reversal, a long philtrum, low-set ears, telecanthus, and a frontal prominence. Prenatal diagnosis of abnormal ultrasound findings with omphalocele and symbrachydactyly should include the differential diagnosis of a chromosome 9p deletion. Copyright © 2014. Published by Elsevier B.V.

Diprosopus: Systematic review and report of two cases.

PubMed

Bidondo, María Paz; Groisman, Boris; Tardivo, Agostina; Tomasoni, Fabián; Tejeiro, Verónica; Camacho, Inés; Vilas, Mariana; Liascovich, Rosa; Barbero, Pablo

2016-12-01

Diprosopus is a subtype of symmetric conjoined twins with one head, facial duplication and a single trunk. Diprosopus is a very rare congenital anomaly. This is a systematic review of published cases and the presentation of two new cases born in Argentina. We estimated the prevalence of conjoined twins and diprosopus using data from the National Network of Congenital Anomalies of Argentina (RENAC). The prevalence of conjoined twins in RENAC was 19 per 1,000,000 births (95% confidence interval, 12-29). Diprosopus prevalence was 2 per 1,000,000 births (95% confidence interval, 0.2-6.8). In the systematic review, we identified 31 diprosopus cases. The facial structures more frequently duplicated were nose and eyes. Most frequent associated anomalies were: anencephaly, duplication of cerebral hemispheres, craniorachischisis, oral clefts, spinal abnormalities, congenital heart defects, diaphragmatic hernia, thoracic and/or abdominal visceral laterality anomalies. One of the RENAC cases and three cases from the literature had another discordant nonmalformed twin. The conjoined twins prevalence was similar to other studies. The prevalence of diprosopus was higher. The etiology is still unknown. The presence of visceral laterality anomalies may indicate the link between diprosopus and the alteration or duplication of the primitive node in the perigastrulation period (12-15 days postfertilization). Pregnancies of more than two embryos may be a risk factor for diprosopus. Given the low prevalence of this defect, it would be useful to perform studies involving several surveillance systems and international consortiums. Birth Defects Research (Part A), 2016. © 2016 Wiley Periodicals, Inc. Birth Defects Research (Part A) 106:993-1007, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Quality of compounded hydrocortisone capsules used in the treatment of children.

PubMed

Neumann, Uta; Burau, Daniela; Spielmann, Sarah; Whitaker, Martin J; Ross, Richard J; Kloft, Charlotte; Blankenstein, Oliver

2017-08-01

Due to the lack of paediatric-licensed formulations, children are often treated with individualized pharmacy-compounded adult medication. An international web-based survey about the types of medication in children with adrenal insufficiency (AI) revealed that the majority of paediatric physicians are using pharmacy-compounded medication to treat children with AI. Observations of loss of therapy control in children with congenital adrenal hyperplasia with compounded hydrocortisone capsules and regained control after prescribing a new hydrocortisone batch led to this 'real world' evaluation of pharmacy-compounded paediatric hydrocortisone capsules. Capsule samples were collected randomly from volunteering parents of treated children suffering from congenital adrenal hyperplasia from all over Germany. Analysis of net mass and hydrocortisone content by high-performance liquid chromatography with ultraviolet (HPLC-UV) detection method was performed based on the European Pharmacopeia. In a total of 61 batches that were sent, 5 batches could not be analysed because of missing dose information, insufficient number of capsules or were not possible to be evaluated. Fifty-six batches containing 1125 capsules were evaluated. 21.4% of the batches revealed insufficiency in uniformity of net mass or drug content and additional 3.6% failed because they did not contain the labelled drug. Compounded medication is a possible cause of variation of steroid doses in children with adrenal insufficiency or congenital adrenal hyperplasia, putting these vulnerable patients at risk of poor disease control and adrenal crisis. These data may apply to other individualized compounded oral medication as well, emphasizing the need for development of licensed paediatric formulations approved by regulatory authorities. © 2017 European Society of Endocrinology.

Congenital Trypanosoma cruzi Transmission in Santa Cruz, Bolivia

PubMed Central

Bern, Caryn; Verastegui, Manuela; Gilman, Robert H.; LaFuente, Carlos; Galdos-Cardenas, Gerson; Calderon, Maritza; Pacori, Juan; Abastoflor, Maria del Carmen; Aparicio, Hugo; Brady, Mark F.; Ferrufino, Lisbeth; Angulo, Noelia; Marcus, Sarah; Sterling, Charles; Maguire, James H.

2017-01-01

Background We conducted a study of congenital Trypanosoma cruzi infection in Santa Cruz, Bolivia. Our objective was to apply new tools to identify weak points in current screening algorithms, and find ways to improve them. Methods Women presenting for delivery were screened by rapid and conventional serological tests. For infants of infected mothers, blood specimens obtained on days 0, 7, 21, 30, 90, 180, and 270 were concentrated and examined microscopically; serological tests were performed for the day 90, 180, and 270 specimens. Maternal and infant specimens, including umbilical tissue, were tested by polymerase chain reaction (PCR) targeting the kinetoplast minicircle and by quantitative PCR. Results Of 530 women, 154 (29%) were seropositive. Ten infants had congenital T. cruzi infection. Only 4 infants had positive results of microscopy evaluation in the first month, and none had positive cord blood microscopy results. PCR results were positive for 6 (67%) of 9 cord blood and 7 (87.5%) of 8 umbilical tissue specimens. PCR-positive women were more likely to transmit T. cruzi than were seropositive women with negative PCR results (P < .05). Parasite loads determined by quantitative PCR were higher for mothers of infected infants than for seropositive mothers of uninfected infants (P < .01). Despite intensive efforts, only 58% of at-risk infants had a month 9 specimen collected. Conclusions On the basis of the low sensitivity of microscopy in cord blood and high rate of loss to follow-up, we estimate that current screening programs miss one-half of all infected infants. Molecular techniques may improve early detection. PMID:19877966

Evaluation and Management of the Child with Hypothyroidism.

PubMed

Leung, Alexander K C; Leung, Alexander A C

2018-05-08

Thyroid hormones are critical for early neurocognitive development as well as growth and development throughout childhood. Prompt recognition and treatment of hypothyroidism is therefore of utmost importance to optimize physical and neurodevelopmental outcomes. To review in depth the evaluation, diagnosis, and treatment of hypothyroidism in children. A PubMed search was completed in Clinical Queries using the key term "hypothyroidism". Patents were searched using the key term "hypothyroidism" from www.freepatentsonline.com. Hypothyroidism may be present at birth (congenital hypothyroidism) or develop later in life (acquired hypothyroidism). Thyroid dysgenesis and dyshormonogenesis account for approximately 85% and 15% of permanent cases of congenital primary hypothyroidism, respectively. More than 95% of infants with congenital hypothyroidism have few, if any, clinical manifestations of hypothyroidism. Newborn screening programs allow early detection of congenital hypothyroidism. In developed countries, Hashimoto thyroiditis is the most common cause of goiter and acquired hypothyroidism in children and adolescents. Globally, iodine deficiency associated with goiter is the most common cause of hypothyroidism. Central hypothyroidism is uncommon and may be associated with other congenital syndromes and deficiencies of other pituitary hormones. Familiarity of the clinical features would allow prompt diagnosis and institution of treatment. Recent patents related to the management of childhood hypothyroidism are discussed. To optimize neurocognitive outcome in infants with congenital hypothyroidism, treatment with levothyroxine should be started as soon as possible, preferably within the first two weeks of life. Children with acquired hypothyroidism should also be treated early to ensure normal growth and development as well as cognitive outcome. The target is to keep serum TSH <5 mIU/L and to maintain serum free T4 or total T4 within the upper half of the age-specific reference range, with elimination of all symptoms and signs of hypothyroidism. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

A case of schizencephaly has a normal surface EEG but abnormal intracranial EEG: epilepsia partialis continua or dystonia?

PubMed

Lv, Yudan; Ma, Dihui; Meng, Hongmei; Zan, Wang; Li, Cui

2013-10-01

Schizencephaly is a congenital malformation of the cerebral hemispheres, with communication between the lateral ventricle and the subarachnoid space. Marinelli reported that schizencephaly may be associated with continuous involuntary hand movements, such as dystonia or epilepsia partialis continua (EPC). We describe a young Chinese patient with continuous involuntary movements of the contralateral hand affected by schizencephaly. He has a normal scalp electroencephalogram (EEG) but abnormal intracranial EEG, with synchronized periodic lateralized epileptiform discharges. The results obtained from these EEG investigations and the clinical features of the involuntary movements are in favor of a diagnosis of secondary EPC.

Adverse outcome of using tilmicosin in a lamb with multiple ventricular septal defects

PubMed Central

Christodoulopoulos, Georgios

2009-01-01

A 15-day-old, 6.08 kg, lamb was injected subcutaneously with tilmicosin 15 mg/kg body weight. Approximately 15 min later, the lamb died. During necropsy, the heart was found to have multiple ventricular septal defects. Death was attributed to sudden heart failure due to the cardiac effects of tilmicosin in a heart having congenital defects. PMID:19337615

Moebius syndrome with Dandy-Walker variant and agenesis of corpus callosum

PubMed Central

John, Jomol Sara; Vanitha, R.

2013-01-01

Moebius syndrome is a rare congenital neurological disorder. The most frequent mode of presentation is facial diplegia with bilateral lateral rectus palsy, but there are variations. Here, we report a rare case of Moebius syndrome in a 15-month-old child with unilateral facial palsy, bilateral abducens nerve palsy with Dandy Walker variant, and complete agenesis of corpus callosum. PMID:24470815

The motor repertoire in 3- to 5-month old infants with Down syndrome.

PubMed

Herrero, Dafne; Einspieler, Christa; Panvequio Aizawa, Carolina Y; Mutlu, Akmer; Yang, Hong; Nogolová, Alice; Pansy, Jasmin; Nielsen-Saines, Karin; Marschik, Peter B

2017-08-01

Even though Down syndrome is the most common chromosomal cause of intellectual disability, studies on early development are scarce. To describe movements and postures in 3- to 5-month-old infants with Down syndrome and assess the relation between pre- and perinatal risk factors and the eventual motor performance. Exploratory study; 47 infants with Down syndrome (26 males, 27 infants born preterm, 22 infants with congenital heart disease) were videoed at 10-19 weeks post-term (median=14 weeks). We assessed their Motor Optimality Score (MOS) based on postures and movements (including fidgety movements) and compared it to that of 47 infants later diagnosed with cerebral palsy and 47 infants with a normal neurological outcome, matched for gestational and recording ages. The MOS (median=13, range 10-28) was significantly lower than in infants with a normal neurological outcome (median=26), but higher than in infants later diagnosed with cerebral palsy (median=6). Fourteen infants with Down syndrome showed normal fidgety movements, 13 no fidgety movements, and 20 exaggerated, too fast or too slow fidgety movements. A lack of movements to the midline and several atypical postures were observed. Neither preterm birth nor congenital heart disease was related to aberrant fidgety movements or reduced MOS. The heterogeneity in fidgety movements and MOS add to an understanding of the large variability of the early phenotype of Down syndrome. Studies on the predictive values of the early spontaneous motor repertoire, especially for the cognitive outcome, are warranted. The significance of this exploratory study lies in its minute description of the motor repertoire of infants with Down syndrome aged 3-5 months. Thirty percent of infants with Down syndrome showed age-specific normal fidgety movements. The rate of abnormal fidgety movements (large amplitude, high/slow speed) or a lack of fidgety movements was exceedingly high. The motor optimality score of infants with Down syndrome was lower than in infants with normal neurological outcome but higher than in infants who were later diagnosed with cerebral palsy. Neither preterm birth nor congenital heart disease were related to the motor performance at 3-5 months. Copyright © 2017 The Authors. Published by Elsevier Ltd.. All rights reserved.

How Visual Is the Visual Cortex? Comparing Connectional and Functional Fingerprints between Congenitally Blind and Sighted Individuals.

PubMed

Wang, Xiaoying; Peelen, Marius V; Han, Zaizhu; He, Chenxi; Caramazza, Alfonso; Bi, Yanchao

2015-09-09

Classical animal visual deprivation studies and human neuroimaging studies have shown that visual experience plays a critical role in shaping the functionality and connectivity of the visual cortex. Interestingly, recent studies have additionally reported circumscribed regions in the visual cortex in which functional selectivity was remarkably similar in individuals with and without visual experience. Here, by directly comparing resting-state and task-based fMRI data in congenitally blind and sighted human subjects, we obtained large-scale continuous maps of the degree to which connectional and functional "fingerprints" of ventral visual cortex depend on visual experience. We found a close agreement between connectional and functional maps, pointing to a strong interdependence of connectivity and function. Visual experience (or the absence thereof) had a pronounced effect on the resting-state connectivity and functional response profile of occipital cortex and the posterior lateral fusiform gyrus. By contrast, connectional and functional fingerprints in the anterior medial and posterior lateral parts of the ventral visual cortex were statistically indistinguishable between blind and sighted individuals. These results provide a large-scale mapping of the influence of visual experience on the development of both functional and connectivity properties of visual cortex, which serves as a basis for the formulation of new hypotheses regarding the functionality and plasticity of specific subregions. Significance statement: How is the functionality and connectivity of the visual cortex shaped by visual experience? By directly comparing resting-state and task-based fMRI data in congenitally blind and sighted subjects, we obtained large-scale continuous maps of the degree to which connectional and functional "fingerprints" of ventral visual cortex depend on visual experience. In addition to revealing regions that are strongly dependent on visual experience (early visual cortex and posterior fusiform gyrus), our results showed regions in which connectional and functional patterns are highly similar in blind and sighted individuals (anterior medial and posterior lateral ventral occipital temporal cortex). These results serve as a basis for the formulation of new hypotheses regarding the functionality and plasticity of specific subregions of the visual cortex. Copyright © 2015 the authors 0270-6474/15/3512545-15$15.00/0.

Post-Flight Test Results of Seed Laser Module Subjected to Space Exposure. Paper No. 8876-9

NASA Technical Reports Server (NTRS)

Prasad, Narasimha S.

2013-01-01

The objective of the Materials International Space Station Experiment (MISSE) is to study the performance of novel materials when subjected to the synergistic effects of the harsh space environment for several months. MISSE missions provide an opportunity for developing space qualifiable materials. Several laser and lidar components were sent by NASA Langley Research Center (LaRC) as a part of the MISSE 7 mission. The MISSE 7 module was transported to the international space station (ISS) via STS 129 mission that was launched on Nov 16, 2009. Later, the MISSE 7 module was brought back to the earth via the STS 134 that landed on June 1, 2011. The MISSE 7 module that was subjected to exposure in space environment for more than one and a half year included fiber laser, solid-state laser gain materials, detectors, and semiconductor laser diode. Performance testing of these components is now progressing. In this paper, the results of performance testing of a laser diode module sent by NASA Langley Research Center on MISSE 7 mission will be discussed. This paper will present the comparison of pre-flight and post-flight performance curves and discuss the effect of space exposure on the laser diode module. Preliminary findings on output power measurements show that the COTS laser diode characteristics did not undergo any significant performance degradation.

Laterality and unilateral deafness: Patients with congenital right ear deafness do not develop atypical language dominance.

PubMed

Van der Haegen, Lise; Acke, Frederic; Vingerhoets, Guy; Dhooge, Ingeborg; De Leenheer, Els; Cai, Qing; Brysbaert, Marc

2016-12-01

Auditory speech perception, speech production and reading lateralize to the left hemisphere in the majority of healthy right-handers. In this study, we investigated to what extent sensory input underlies the side of language dominance. We measured the lateralization of the three core subprocesses of language in patients who had profound hearing loss in the right ear from birth and in matched control subjects. They took part in a semantic decision listening task involving speech and sound stimuli (auditory perception), a word generation task (speech production) and a passive reading task (reading). The results show that a lack of sensory auditory input on the right side, which is strongly connected to the contralateral left hemisphere, does not lead to atypical lateralization of speech perception. Speech production and reading were also typically left lateralized in all but one patient, contradicting previous small scale studies. Other factors such as genetic constraints presumably overrule the role of sensory input in the development of (a)typical language lateralization. Copyright © 2015 Elsevier Ltd. All rights reserved.

Sleeping beauties in psychology: comparisons of "hits" and "missed signals" in psychological journals.

PubMed

Lange, Lydia L

2005-05-01

Scientific publications tend to be forgotten quickly. A few works, however, are still cited 100 years and more after their publication. The author used bibliometric methods to compare "hits" (works noticed by the scientific community soon after their publication) with "missed signals" (works that went unnoticed until much later) by investigating 2 psychological journals founded in the 1890s: Zeitschrift für Psychologie and Psychological Review. All articles that were published in either of these journals up to 1920 and cited more than 25 times in the Web of Science up to the year 2000 were considered for inclusion in the analysis. It emerged that hits corresponded more closely to the focus of scientific attention at the time of the publications than missed signals.

Split thickness skin graft for cervicovaginal reconstruction in congenital atresia of cervix.

PubMed

Zhang, Xuyin; Han, Tiantian; Ding, Jingxin; Hua, Keqin

2015-10-01

To introduce a new technique that combines laparoscopic and vaginal cervicovaginal reconstruction using split thickness skin graft in patients with congenital atresia of the cervix. Video article introducing a new surgical technique. University hospital. A 16-year-old patient with congenital cervical atresia, vaginal dysgenesis, and ovarian endometrial cyst. An original technique of combined laparoscopic and vaginal cervicovaginal reconstruction using split thickness skin graft for cervicovaginal reconstruction. A midline incision at the vaginal introitus was made, and a 9-cm canal was made between the bladder and the rectum using sharp and blunt dissection along the anatomic vaginal route, with the aid of laparoscopy to ensure correct orientation. A 14 × 12 cm split thickness skin graft was harvested from the right lateral thigh. By laparoscopy, the level of the lowest pole of the uterine cavity was exposed and the cervix was incised by shape dissection. The proximal segment of the harvested skin to the lower uterine segment was secured, and the distal segment was sutured with the upper margin of vulva vaginally. Surgical technique reports in anonymous patients are exempted from ethical approval by the Institutional Review Board. The patient gave consent to use the video in the article. The procedure was successfully completed. Since February 2013, our experiences of combined laparoscopic and vaginal cervicovaginal reconstruction using split thickness skin graft in 10 patients with congenital atresia of cervix were positive, with successful results and without complications or cervical, or vaginal stenosis. Our technique is feasible and safe for congenital atresia of cervix, with successful results and without complications or cervical or vaginal stenosis. Copyright © 2015 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

Congenital asymptomatic diaphragmatic hernias in adults: a case series

PubMed Central

2013-01-01

Introduction Congenital diaphragmatic hernia is a major malformation occasionally found in newborns and babies. Congenital diaphragmatic hernia is defined by the presence of an orifice in the diaphragm, more often to the left and posterolateral, that permits the herniation of abdominal contents into the thorax. The aim of this case series is to provide information on the presentation, diagnosis and outcome of three patients with late-presenting congenital diaphragmatic hernias. The diagnosis of congenital diaphragmatic hernia is based on clinical investigation and is confirmed by plain X-ray films and computed tomography scans. Case presentations In the present report three cases of asymptomatic abdominal viscera herniation within the thorax are described. The first case concerns herniation of some loops of the large intestine into the left hemi-thorax in a 75-year-old Caucasian Italian woman. The second case concerns a rare type of herniation in the right side of the thorax of the right kidney with a part of the liver parenchyma in a 57-year-old Caucasian Italian woman. The third case concerns herniation of the stomach and bowel into the left side of the chest with compression of the left lung in a 32-year-old Caucasian Italian man. This type of hernia may appear later in life, because of concomitant respiratory or gastrointestinal disease, or it may be an incidental finding in asymptomatic adults, such as in the three cases featured here. Conclusions Patients who present with late diaphragmatic hernias complain of a wide variety of symptoms, and diagnosis may be difficult. Additional investigation and research appear necessary to better explain the development and progression of this type of disease. PMID:23668793

Toe transfer in congenital hand malformations.

PubMed

Foucher, G; Medina, J; Navarro, R; Nagel, D

2001-01-01

Fifty-eight patients with congenital hand abnormalities underwent 65 toe-to-hand transfers. Symbrachydactyly (51 cases) was the most frequent indication. Forty-seven second toe-to-hand transfers were performed in 44 patients. The mean follow-up time was 5.2 years. Two failures occurred in cases in which only one artery was anastomosed; no failures were noted when more than one artery fed the transfer. Two patients with a single second-toe transfer presented with lateral instability of the transferred metatarsophalangeal joint. The mean active range of motion was 38 degrees, with a mean extension lag of 25 degrees. The mean two-point discrimination was 5 mm. Forty-one patients used the transferred toe well, when performing activities of daily living and playing games. Toe-to-hand transfer, prior to the establishment of the grip pattern, facilitates integration of the transfer.

Impact of acute bleeding on daily activities of patients with congenital hemophilia with inhibitors and their caregivers and families: observations from the Dosing Observational Study in Hemophilia (DOSE).

PubMed

Recht, Michael; Neufeld, Ellis J; Sharma, Vivek R; Solem, Caitlyn T; Pickard, A Simon; Gut, Robert Z; Cooper, David L

2014-09-01

There is limited understanding of the effects of bleeding episodes on the daily lives of patients with congenital hemophilia with inhibitors and their caregivers. This analysis of the Dosing Observational Study in Hemophilia examined the impact of acute bleeding episodes on work, school, and family activities. Patients and caregivers participated in a diary study for 90 or more days or until patients experienced four bleeding episodes. All bleed treatments, interference with daily activities, and quality-of-life assessments were captured in daily records. Patients and caregivers reported planned workdays or school days eligible to be "lost" so as to differentiate from days lost because of disability or nonworking status, weekends, and vacations. Diaries were completed for 39 patients (18 adults and 21 children). Bleeding episodes that continued for 3 or more days (16.4%) accounted for most of the major changes to family plans. For the 38 patients with bleeding episodes, 47% of 491 bleed days fell on planned workdays or school days; the remainder fell on weekends, holidays, or nonworkdays or non-school days and therefore did not count as "lost days." Patients reported a loss of productivity on a greater percentage of eligible bleed days than did caregivers (3.9% vs. 0.8%, respectively). Patients and caregivers reported 13.5%/9.3% fully missed and 3.5%/7.6% partially missed days. This study demonstrated that in hemophilia with inhibitors, bleeding episodes interfere with the daily activities of patients and their caregivers. Furthermore, documenting only lost days underestimated the impact of bleeding episodes because of the high percentage of days without planned work or school. Copyright © 2014 International Society for Pharmacoeconomics and Outcomes Research (ISPOR). Published by Elsevier Inc. All rights reserved.

Epidemiology of syphilis among Hispanic women and associations with congenital syphilis, Maricopa county, Arizona.

PubMed

Kirkcaldy, Robert D; Su, John R; Taylor, Melanie M; Koumans, Emilia; Mickey, Tom; Winscott, Michelle; Kenney, Kerry; Weinstock, Hillard S

2011-07-01

We investigated factors associated with high rates of congenital syphilis among Hispanic infants in Maricopa County, AZ. Using 2004-2008 syphilis case report data from the state and county health departments, we examined characteristics of pregnant and nonpregnant women with syphilis and their male partners. During 2004-2008, 970 women were reported to have syphilis: 49% were Hispanic (of whom 49% were non-US citizens), 27% were white, 13% were black, and 8% were American Indian/Alaskan Native. Although 16% of Hispanic noncitizens reported drug use or high-risk sexual behaviors, 64% of these women had a male sex partner who reported drug use or anonymous sex. Hispanic women with syphilis were more likely to be pregnant (37%) than white (15%) or black women (13%) (P < 0.05), and were overrepresented among pregnant women with syphilis. Pregnant Hispanic noncitizens were treated later than pregnant Hispanic citizens (median 28 weeks gestation vs. 21 weeks, P = 0.01). Innovative congenital syphilis prevention strategies that are relevant to Hispanic women are warranted. Strategies should address the reproductive health and prenatal care needs of Hispanic women, and may include interventions for their male partners.

A tetrad of bicuspid aortic valve association: A single-stage repair

PubMed Central

Barik, Ramachandra; Patnaik, A. N.; Mishra, Ramesh C.; Kumari, N. Rama; Gulati, A. S.

2012-01-01

We report a 27 years old male who presented with a combination of both congenital and acquired cardiac defects. This syndrome complex includes congenital bicuspid aortic valve, Seller's grade II aortic regurgitation, juxta- subclavian coarctation, stenosis of ostium of left subclavian artery and ruptured sinus of Valsalva aneurysm without any evidence of infective endocarditis. This type of constellation is extremely rare. Neither coarctation of aorta with left subclavian artery stenosis nor the rupture of sinus Valsalva had a favorable pathology for percutaneus intervention. Taking account into morbidity associated with repeated surgery and anesthesia patient underwent a single stage surgical repair of both the defects by two surgical incisions. The approaches include median sternotomy for rupture of sinus of Valsalva and lateral thoracotomy for coarctation with left subclavian artery stenosis. The surgery was uneventful. After three months follow up echocardiography showed mild residual gradient across the repaired coarctation segment, mild aortic regurgitation and no residual left to right shunt. This patient is under follow up. This is an extremely rare case of single stage successful repair of coarctation and rupture of sinus of Valsalva associated with congenital bicuspid aortic valve. PMID:22629035

A tetrad of bicuspid aortic valve association: A single-stage repair.

PubMed

Barik, Ramachandra; Patnaik, A N; Mishra, Ramesh C; Kumari, N Rama; Gulati, A S

2012-04-01

We report a 27 years old male who presented with a combination of both congenital and acquired cardiac defects. This syndrome complex includes congenital bicuspid aortic valve, Seller's grade II aortic regurgitation, juxta- subclavian coarctation, stenosis of ostium of left subclavian artery and ruptured sinus of Valsalva aneurysm without any evidence of infective endocarditis. This type of constellation is extremely rare. Neither coarctation of aorta with left subclavian artery stenosis nor the rupture of sinus Valsalva had a favorable pathology for percutaneus intervention. Taking account into morbidity associated with repeated surgery and anesthesia patient underwent a single stage surgical repair of both the defects by two surgical incisions. The approaches include median sternotomy for rupture of sinus of Valsalva and lateral thoracotomy for coarctation with left subclavian artery stenosis. The surgery was uneventful. After three months follow up echocardiography showed mild residual gradient across the repaired coarctation segment, mild aortic regurgitation and no residual left to right shunt. This patient is under follow up. This is an extremely rare case of single stage successful repair of coarctation and rupture of sinus of Valsalva associated with congenital bicuspid aortic valve.

Toxoplasmosis in the fetus and newborn: an update on prevalence, diagnosis and treatment.

PubMed

Moncada, Pablo A; Montoya, Jose G

2012-07-01

Toxoplasma gondii is an unicellular coccidian parasite with worldwide distribution. It is estimated that more than a third of the world's population has been infected with the parasite, but seroprevalence is unevenly distributed across countries and different socioeconomic strata. The majority of newborns with congenital toxoplasmosis do not have any clinical signs of the disease at birth; however, 30-70% of those with clinical abnormalities were not detected initially, and are found to have new retinal lesions consistent with toxoplasmicchorioretinitis later in life. Congenital toxoplasmosis can also cause fetal death, stillbirths or long-term disabling sequelae, particularly among untreated infants. The disease appears to be more frequent and severe at certain latitudes. Congenital toxoplasmosis can be prevented and treated during gestation. Less severe disease is commonly reported in countries where prenatal screening and treatment have been systematically implemented. By contrast, severe disease appears to be observed primarily in infants born to untreated mothers. For definition purposes, it is best to use the term toxoplasma or Toxoplasma gondii infection when referring to asymptomatic patients with primary or chronic infection, and toxoplasmosis when referring to patients with symptoms or signs.

Objective Assessment Method for RNAV STAR Adherence

NASA Technical Reports Server (NTRS)

Stewart, Michael; Matthews, Bryan

2017-01-01

Flight crews and air traffic controllers have reported many safety concerns regarding area navigation standard terminal arrival routes (RNAV STARs). Specifically, optimized profile descents (OPDs). However, our information sources to quantify these issues are limited to subjective reporting and time consuming case-by-case investigations. This work is a preliminary study into the objective performance of instrument procedures and provides a framework to track procedural concepts and assess design specifications. We created a tool and analysis methods for gauging aircraft adherence as it relates to RNAV STARs. This information is vital for comprehensive understanding of how our air traffic behaves. In this study, we mined the performance of 24 major US airports over the preceding three years. Overlaying 4D radar track data onto RNAV STAR routes provided a comparison between aircraft flight paths and the waypoint positions and altitude restrictions. NASA Ames Supercomputing resources were utilized to perform the data mining and processing. We assessed STARs by lateral transition path (full-lateral), vertical restrictions (full-lateral/full-vertical), and skipped waypoints (skips). In addition, we graphed frequencies of aircraft altitudes relative to the altitude restrictions. Full-lateral adherence was always greater than Full-lateral/ full- vertical, as it is a subset, but the difference between the rates was not consistent. Full-lateral/full-vertical adherence medians of the 2016 procedures ranged from 0% in KDEN (Denver) to 21% in KMEM (Memphis). Waypoint skips ranged from 0% to nearly 100% for specific waypoints. Altitudes restrictions were sometimes missed by systematic amounts in 1,000 ft. increments from the restriction, creating multi-modal distributions. Other times, altitude misses looked to be more normally distributed around the restriction. This tool may aid in providing acceptability metrics as well as risk assessment information.

Fibrin Formation, Structure and Properties

PubMed Central

Weisel, John W.; Litvinov, Rustem I.

2017-01-01

Fibrinogen and fibrin are essential for hemostasis and are major factors in thrombosis, wound healing, and several other biological functions and pathological conditions. The X-ray crystallographic structure of major parts of fibrin(ogen), together with computational reconstructions of missing portions and numerous biochemical and biophysical studies, have provided a wealth of data to interpret molecular mechanisms of fibrin formation, its organization, and properties. On cleavage of fibrinopeptides by thrombin, fibrinogen is converted to fibrin monomers, which interact via knobs exposed by fibrinopeptide removal in the central region, with holes always exposed at the ends of the molecules. The resulting half-staggered, double-stranded oligomers lengthen into protofibrils, which aggregate laterally to make fibers, which then branch to yield a three-dimensional network. Much is now known about the structural origins of clot mechanical properties, including changes in fiber orientation, stretching and buckling, and forced unfolding of molecular domains. Studies of congenital fibrinogen variants and post-translational modifications have increased our understanding of the structure and functions of fibrin(ogen). The fibrinolytic system, with the zymogen plasminogen binding to fibrin together with tissue-type plasminogen activator to promote activation to the active proteolytic enzyme, plasmin, results in digestion of fibrin at specific lysine residues. In spite of a great increase in our knowledge of all these interconnected processes, much about the molecular mechanisms of the biological functions of fibrin(ogen) remains unknown, including some basic aspects of clotting, fibrinolysis, and molecular origins of fibrin mechanical properties. Even less is known concerning more complex (patho)physiological implications of fibrinogen and fibrin. PMID:28101869

Embolization of Collateral Vessels Using Mechanically Detachable Coils in Young Children with Congenital Heart Disease

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

Sato, Y.; Ogino, H.; Hara, M.

2003-11-15

Our objective was to evaluate the usefulness of embolizing collateral vessels using mechanically detachable coils (MDCs) in children aged 3 years or younger with congenital heart disease. The subjects were 8 children with congenital heart disease featuring collateral vessels (age 18 days-3 years): 3 with a single ventricle, 2 with the tetralogy of Fallot, 2 with pulmonary atresia, and 1 with a ventricular septal defect. The embolized vessels were the major aortopulmonary collateral artery (MAPCA) in 5 patients, the persistent left superior vena cava in 2, and the coronary arteriovenous fistula in 1. A 4 or a 5 F cathetermore » was used as the guiding device, and embolization was performed using MDCs and other conventional coils introduced through the microcatheter. One patient had growth of new MAPCAs after embolization, and these MAPCAs were also embolized with MDCs. Thus, a total of 9 embolization procedures were performed in 8 patients. Complete occlusion of the collateral vessels was achieved in 8 of 9 procedures (89%). Seven of 8 patients (88%) had uneventful courses after embolization, and MDC procedures appeared to play important roles in avoiding coil migration and achievement of safe coil embolization. One patient who underwent MAPCA embolization showed no improvement in heart function and died 2 months and 19 days later. Embolization of collateral vessels using MDCs in young children with congenital heart disease can be an effective procedure and a valuable adjunct to surgical management.« less

Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech gypsy children – frequent and underestimated cause of disability among Czech gypsies

PubMed Central

2014-01-01

Background Congenital Cataract Facial Dysmorphism and demyelinating Neuropathy (CCFDN, OMIM 604468) is an autosomal recessive multi-system disorder which was first described in Bulgarian Gypsies in 1999. It is caused by the homozygous founder mutation c.863 + 389C > T in the CTDP1 gene. The syndrome has been described exclusively in patients of Gypsy ancestry. The prevalence of this disorder in the Gypsy population in the Czech Republic and Central Europe is not known and is probably underestimated and under-diagnosed. Methods We clinically diagnosed and assessed 10 CCFDN children living in the Czech Republic. All patients are children of different ages, all of Gypsy origin born in the Czech Republic. Molecular genetic testing for the founder CTDP1 gene mutation was performed. Results All patients are homozygous for the c.863 + 389C > T mutation in the CTDP1 gene. All patients presented a bilateral congenital cataract and microphthalmos and had early cataract surgery. Correct diagnosis was not made until the age of two. All patients had variably delayed motor milestones. Gait is characteristically paleocerebellar in all the patients. Mental retardation was variable and usually mild. Conclusions Clinical diagnosis of CCFDN should be easy for an informed pediatrician or neurologist by the obligate signalling trias of congenital bilateral cataract, developmental delay and later demyelinating neuropathy. Our data indicate a probably high prevalence of CCFDN in the Czech Gypsy ethnic subpopulation. PMID:24690360

Ocular abnormalities in congenital Zika syndrome: a case report, and review of the literature.

PubMed

Guevara, Jade Gieseke; Agarwal-Sinha, Swati

2018-06-09

As the number of children with Zika virus-related complications grows, the long-term developmental trajectory and its effects on families are unknown. We present the first known case of congenital Zika syndrome seen at our institution with significant fundus findings. A 3-day-old Hispanic baby girl presented with severe microcephaly of 24 cm and temperature instability at birth. Her mother had traveled to Honduras early in pregnancy and testing of amniotic fluid was positive for Zika virus via polymerase chain reaction. A dilated fundus examination was significant for bilateral severe colobomatous chorioretinal atrophy of the macula and pigmentary changes. Neonatal magnetic resonance imaging revealed diffuse lissencephaly with decreased brain volume, atrophic corpus callosum and brainstem, periventricular calcifications, and ventriculomegaly of the lateral ventricles. Our patient, who presented with the first known case of congenital Zika syndrome in Northern Florida, demonstrated profound bilateral colobomatous chorioretinal atrophy of the macula. The ophthalmologic findings along with severe microcephaly emphasize the neurotropism of the Zika virus, and ultimately are indicative of poor developmental and visual prognosis for affected infants. With the increased prevalence of Zika virus, ophthalmologists should be aware of the associated findings and the importance of an eye-screening examination with a dilated fundus examination within 1 month of life of infants in which congenital Zika syndrome is suspected. A multidisciplinary care approach is essential for the care of affected infants and their families.

Accessory mammary tissue associated with congenital and hereditary nephrourinary malformations.

PubMed

Urbani, C E; Betti, R

1996-05-01

The association between polythelia (supernumerary nipple) and kidney and urinary tract malformations (KUTM) is controversial. Some authors reported this association in newborns and infants. Case-control studies dealing with adult subjects are not found in the literature. The purpose of this study is to determine the frequency of the association between accessory mammary tissue (AMT) and congenital and hereditary nephrourinary defects in an adult population compared to a control group. The study was performed in 146 white patients (123 men, 23 women) with AMT out of 2645 subjects consecutively referred to us for physical examination. The following investigations were undertaken: ultrasonographic examination of the abdomen and the kidneys, ECG, echocardiogram, roentgenogram of the vertebral column, urinalysis, and other laboratory tests. A sex- and age-matched control group without any evidence of AMT or lateral displacement of the nipples underwent the same examinations. Kidney and urinary tract malformations were detected in 11 patients with AMT (nine men, two women) and in one control. These data indicate a significantly higher frequency of KUTM in the AMT-affected patients compared to controls (7.53% vs. 0.68%, P < 0.001). A broad spectrum of KUTM was discovered in association with AMT: adult dominant polycystic kidney disease, unilateral renal agenesis, cystic renal dysplasia, familial renal cysts, and congenital stenosis of the pyeloureteral joint. Accessory mammary tissue offers an important clue for congenital and hereditary anomalies of the kidneys and urinary collecting systems. Patients with AMT should, therefore, be extensively examined for the presence of occult nephrouropathies.

Dermoid Cysts of the Floor of the Mouth: Two Case Reports

PubMed Central

Makos, Christos; Noussios, George; Peios, Marinos; Gougousis, Spyridon; Chouridis, Pantelis

2011-01-01

Dermoid cysts in the floor of the mouth may be congenital or acquired. The congenital form, according to the main theory, originates from embryonic cells of the 1st and 2nd branchial arch. The acquired form may be due to traumatic or iatrogenic causes and as a result of the occlusion of a sebaceous gland duct. Its occurrence is less and is estimated to be from 1.6 to 6.4% of the dermoid cysts of the body in adults and 0.29% of the head and neck tumors occurring in children. They may also be classified as anatomical and histological. Anatomically, they are divided into median genioglossal, median geniohyoid, and lateral cysts, while histologically they are divided into epidermoid, dermoid cysts and teratomas. Clinically, a distinction between supra and inferior type as well as between central and lateral type is proposed in relation to themylohyoidmuscle and themidline, respectively. Histologically, an estimation of dermoid, epidermoid, and teratoid cysts is reported. Enucleation via intraoral and/or extraoral approach is the method of treatment. Two case reports of dermoid cysts in the floor of the mouth are presented in this paper, and an evaluation with regard to pathology, clinical findings, differential diagnosis, and treatment is discussed. PMID:21922020

The long term economic impact of severe obstetric complications for women and their children in Burkina Faso.

PubMed

Ilboudo, Patrick G C; Russell, Steve; D'Exelle, Ben

2013-01-01

This study investigates the long term economic impact of severe obstetric complications for women and their children in Burkina Faso, focusing on measures of food security, expenditures and related quality of life measures. It uses a hospital based cohort, first visited in 2004/2005 and followed up four years later. This cohort of 1014 women consisted of two main groups of comparison: 677 women who had an uncomplicated delivery and 337 women who experienced a severe obstetric complication which would have almost certainly caused death had they not received hospital care (labelled a "near miss" event). To analyze the impact of such near miss events as well as the possible interaction with the pregnancy outcome, we compared household and individual level indicators between women without a near miss event and women with a near miss event who either had a live birth, a perinatal death or an early pregnancy loss. We used propensity score matching to remove initial selection bias. Although we found limited effects for the whole group of near miss women, the results indicated negative impacts: a) for near miss women with a live birth, on child development and education, on relatively expensive food consumption and on women's quality of life; b) for near miss women with perinatal death, on relatively expensive foods consumption and children's education and c) for near miss women who had an early pregnancy loss, on overall food security. Our results showed that severe obstetric complications have long lasting consequences for different groups of women and their children and highlighted the need for carefully targeted interventions.

Neglected locked vertical patellar dislocation

PubMed Central

Gupta, Rakesh Kumar; Gupta, Vinay; Sangwan, Sukhbir Singh; Kamboj, Pradeep

2012-01-01

Patellar dislocations occurring about the vertical and horizontal axis are rare and irreducible. The neglected patellar dislocation is still rarer. We describe the clinical presentation and management of a case of neglected vertical patellar dislocation in a 6 year-old boy who sustained an external rotational strain with a laterally directed force to his knee. Initially the diagnosis was missed and 2 months later open reduction was done. The increased tension generated by the rotation of the lateral extensor retinaculum kept the patella locked in the lateral gutter even with the knee in full extension. Traumatic patellar dislocation with rotation around a vertical axis has been described earlier, but no such neglected case has been reported to the best of our knowledge. PMID:23162154

Retention strategies and factors associated with missed visits among low income women at increased risk of HIV acquisition in the US (HPTN 064).

PubMed

Haley, Danielle F; Lucas, Jonathan; Golin, Carol E; Wang, Jing; Hughes, James P; Emel, Lynda; El-Sadr, Wafaa; Frew, Paula M; Justman, Jessica; Adimora, Adaora A; Watson, Christopher Chauncey; Mannheimer, Sharon; Rompalo, Anne; Soto-Torres, Lydia; Tims-Cook, Zandraetta; Carter, Yvonne; Hodder, Sally L

2014-04-01

Women at high-risk for HIV acquisition often face challenges that hinder their retention in HIV prevention trials. These same challenges may contribute to missed clinical care visits among HIV-infected women. This article, informed by the Gelberg-Andersen Behavioral Model for Vulnerable Populations, identifies factors associated with missed study visits and describes the multifaceted retention strategies used by study sites. HPTN 064 was a multisite, longitudinal HIV seroincidence study in 10 US communities. Eligible women were aged 18-44 years, resided in a census tract/zipcode with high poverty and HIV prevalence, and self-reported ≥1 personal or sex partner behavior related to HIV acquisition. Multivariate analyses of predisposing (e.g., substance use) and enabling (e.g., unmet health care needs) characteristics, and study attributes (i.e., recruitment venue, time of enrollment) identified factors associated with missed study visits. Retention strategies included: community engagement; interpersonal relationship building; reduction of external barriers; staff capacity building; and external tracing. Visit completion was 93% and 94% at 6 and 12 months. Unstable housing and later date of enrollment were associated with increased likelihood of missed study visits. Black race, recruitment from an outdoor venue, and financial responsibility for children were associated with greater likelihood of attendance. Multifaceted retention strategies may reduce missed study visits. Knowledge of factors associated with missed visits may help to focus efforts.

Retention Strategies and Factors Associated with Missed Visits Among Low Income Women at Increased Risk of HIV Acquisition in the US (HPTN 064)

PubMed Central

Lucas, Jonathan; Golin, Carol E.; Wang, Jing; Hughes, James P.; Emel, Lynda; El-Sadr, Wafaa; Frew, Paula M.; Justman, Jessica; Adimora, Adaora A.; Watson, Christopher Chauncey; Mannheimer, Sharon; Rompalo, Anne; Soto-Torres, Lydia; Tims-Cook, Zandraetta; Carter, Yvonne; Hodder, Sally L.

2014-01-01

Abstract Women at high-risk for HIV acquisition often face challenges that hinder their retention in HIV prevention trials. These same challenges may contribute to missed clinical care visits among HIV-infected women. This article, informed by the Gelberg-Andersen Behavioral Model for Vulnerable Populations, identifies factors associated with missed study visits and describes the multifaceted retention strategies used by study sites. HPTN 064 was a multisite, longitudinal HIV seroincidence study in 10 US communities. Eligible women were aged 18–44 years, resided in a census tract/zipcode with high poverty and HIV prevalence, and self-reported ≥1 personal or sex partner behavior related to HIV acquisition. Multivariate analyses of predisposing (e.g., substance use) and enabling (e.g., unmet health care needs) characteristics, and study attributes (i.e., recruitment venue, time of enrollment) identified factors associated with missed study visits. Retention strategies included: community engagement; interpersonal relationship building; reduction of external barriers; staff capacity building; and external tracing. Visit completion was 93% and 94% at 6 and 12 months. Unstable housing and later date of enrollment were associated with increased likelihood of missed study visits. Black race, recruitment from an outdoor venue, and financial responsibility for children were associated with greater likelihood of attendance. Multifaceted retention strategies may reduce missed study visits. Knowledge of factors associated with missed visits may help to focus efforts. PMID:24697160

Spine deformities in rare congenital syndromes: clinical issues.

PubMed

Campbell, Robert M

2009-08-01

A focused review of the literature with regard to the important system abnormalities of patients with spinal deformities associated with exotic congenital syndromes with additional data from the author's own experience in assessment of patients with rare syndromes treated for thoracic insufficiency syndrome. The objectives of this study are to emphasize important medical considerations that influence the choice of surgical treatment of spinal deformity in patients with exotic congenital syndromes and point out preoperative strategies that reduce treatment morbidity and mortality of these patients. Individual experience is limited in the treatment of spine abnormality in rare exotic syndromes and the medical aspects of these syndromes that may impact spinal treatment are seldom discussed in detail in the orthopedic literature. For a successful outcome in the treatment of spinal deformity in these unique patients, a working knowledge of the unique pitfalls in their medical care is necessary in order to avoid morbidity and mortality during their treatment. The literature was reviewed for 6 exotic congenital syndromes with known or unreported spinal abnormalities and the author's personal 22-years experience of the treatment of thoracic insufficiency syndrome in the relevant congenital syndromes was summarized. Children with Marfan syndrome and spinal deformity may have serious cardiac abnormalities. Spontaneous dissection of the aortic root is a clear danger and patients should be monitored by serial echocardiograms. Prophylactic cardiac surgery may be necessary before spinal surgery is to be performed. Patients with Jeune syndrome have a high rate of proximal cervical stenosis and should undergo screening with cervical spine films at birth. Significant stenosis or instability may require decompression and cervical-occipital fusion. Arthrogryposis may be associated with a severe scoliosis and jaw contracture may make intubation difficult. Larsen syndrome may have early onset scoliosis that is very rigid and requires early intervention. Cervical kyphosis and subluxation may be lethal in these patients and screening radiographs are important. Upper airway abnormalities are an anesthesia concern. Jarcho-Levin syndrome is a thoracic volume depletion deformity due to shortness of the thorax, either a spondylocostal dysostosis variant or spondylothoracic dysplasia. The former has a chaotic congenital scoliosis with varied combination of missing and fused ribs. Although spondylocostal dysostosis has a benign reputation in the literature for respiratory complications, respiratory insufficiency is nevertheless common and 1 death is known from respiratory failure. Spondylothoracic dysplasia seldom has significant scoliosis, but has a mortality rate approaching 50% from respiratory complications due to thoracic insufficiency syndrome. In spite of severe restrictive respiratory disease, adult survivors of spondylothoracic dysplasia appear to do well clinically for unknown reasons. Cerebrocostomandibular syndrome has scoliosis, micrognathia, and thoracic insufficiency syndrome, due to an "implosion" deformity of the thorax from congenital pseudarthrosis of the posterior ribs. For optimal patient care, it is necessary to have a clear understanding of exotic congenital syndromes and how they may impact on both the presentation of spinal deformity and the response to treatment, as well as how they may introduce additional morbidity into standard treatment plans. It is clear that with this understanding that preoperative strategies can be employed to enhance the safety of spinal treatment for these unique children.

High Rate of Missed Lateral Meniscus Posterior Root Tears on Preoperative Magnetic Resonance Imaging

PubMed Central

Krych, Aaron J.; Wu, Isabella T.; Desai, Vishal S.; Murthy, Naveen S.; Collins, Mark S.; Saris, Daniel B.F.; Levy, Bruce A.; Stuart, Michael J.

2018-01-01

Background: Lateral meniscus posterior root tears (LMPRTs), if left untreated, can cause devastating effects to the knee, with rapid articular cartilage degeneration and loss of the meniscus as a secondary stabilizer. Detection and surgical repair of these defects have been linked to favorable outcomes, but preoperative identification of LMPRTs continues to be challenging. Purpose: To determine the rate of LMPRTs diagnosed preoperatively on magnetic resonance imaging (MRI) in a consecutive series of arthroscopically confirmed LMPRTs. Study Design: Case series; Level of evidence, 4. Methods: A retrospective cohort of 45 consecutive patients with arthroscopically confirmed LMPRTs between 2010 and 2017 were included in this study. The preoperative MRI report for each patient was evaluated and compared with intraoperative findings. Each preoperative MRI study was then reviewed by 2 fellowship-trained musculoskeletal radiologists who worked in consensus. Results: A total of 45 patients (32 males, 13 females) with arthroscopically confirmed LMPRTs and a mean age of 27 years (range, 14-54 years) were included in the study. Only 15 of 45 LMPRTs (33%) were initially diagnosed on preoperative MRI. Past or concurrent anterior cruciate ligament (ACL) reconstruction was present in 37 of 45 cases (82%). Upon retrospective review, 15 of the 30 missed LMPRTs were “clearly evident,” 12 “subtly evident,” and 3 “occult” (unavoidably missed). There were no significant differences in the rate of LMPRT diagnosis based on history of prior knee surgery, meniscus extrusion, or tearing of the meniscofemoral ligament. Conclusion: Despite improved identification of other meniscus tear patterns on MRI, a high percentage of LMPRTs were still missed. In the setting of previous ACL reconstruction, if the root cannot be confidently identified, the MRI interpretation should indicate that “the root is poorly visualized” to alert the surgeon to thoroughly evaluate this structure. The surgeon should maintain a high index of suspicion and carefully probe the posterior root of the lateral meniscus at the time of arthroscopy, especially in cases of ACL injury. PMID:29662913

Posterior polar cataract: A review

PubMed Central

Kalantan, Hatem

2011-01-01

Posterior polar cataract is a rare form of congenital cataract. It is usually inherited as an autosomal dominant disease, yet it can be sporadic. Five genes have been attributed to the formation of this disease. It is highly associated with complications during surgery, such as posterior capsule rupture and nucleus drop. The reason for this high complication rate is the strong adherence of the opacity to the weak posterior capsule. Different surgical strategies were described for the handling of this challenging entity, most of which emphasized the need for gentle maneuvering in dealing with these cases. It has a unique clinical appearance that should not be missed in order to anticipate, avoid, and minimize the impact of the complications associated with it. PMID:23960967

[Mesenteric venous trombosis and pregnancy--a case report and a short review of the problem].

PubMed

Terzhumanov, R; Uchikova, E; Paskaleva, V; Milchev, N; Uchikov, A

2005-01-01

Mesenteric venous thrombosis is extremely rare surgical pathology during pregnancy and frequently is associated with hemoglobinopathies beta-thalassemia, congenital defects of the coagulation and antiphospholipide syndrome. It has nontypical clinical appearance, which hardens the timely diagnosis and the adequate surgical treatment. We present a case of a 22 year-old girl with hemozygote form of beta thalassemia, pregnant in ml II, with mesenteric venose thrombosis. The diagnosis was made on the 24th hour from the beginning of the disease. The patient was operated successfully by a resection of the necrotic changed part of the intestine. She noticed vaginal bleeding due to a missed abortion on the 22nd day after the operation.

[Robot-assisted and computer-based neurorehabilitation for children: the story behind].

PubMed

Meyer-Heim, Andreas; van Hedel, Hub J A

2014-07-23

Impairments of the central motor system can either be congenital (e. g. cerebral palsy) or acquired (e. g. traumatic brain injury, stroke). These lesions are the most frequent morbidities necessitating neuro-rehabilitative measures in childhood. Robot-assisted rehabilitation in combination with virtual reality can complement conventional therapies and provide a task-specific training, with a high number of repetitions over a prolonged time period. The advantage of virtual reality is that it can provide a real time feedback about the patient's performance. Furthermore, challenging virtual scenarios especially motivate young patients to continue with otherwise monotonous exercises. Preliminary findings indicate that robot-assisted training in children with central motor impairment could be beneficial, but conclusive evidence about its efficacy is still missing.

A Zebrafish Loss-of-Function Model for Human CFAP53 Mutations Reveals Its Specific Role in Laterality Organ Function.

PubMed

Noël, Emily S; Momenah, Tarek S; Al-Dagriri, Khalid; Al-Suwaid, Abdulrahman; Al-Shahrani, Safar; Jiang, Hui; Willekers, Sven; Oostveen, Yara Y; Chocron, Sonja; Postma, Alex V; Bhuiyan, Zahurul A; Bakkers, Jeroen

2016-02-01

Establishing correct left-right asymmetry during embryonic development is crucial for proper asymmetric positioning of the organs. Congenital heart defects, such as dextrocardia, transposition of the arteries, and inflow or outflow tract malformations, comprise some of the most common birth defects and may be attributed to incorrect establishment of body laterality. Here, we identify new patients with dextrocardia who have mutations in CFAP53, a coiled-coil domain containing protein. To elucidate the mechanism by which CFAP53 regulates embryonic asymmetry, we used genome editing to generate cfap53 zebrafish mutants. Zebrafish cfap53 mutants have specific defects in organ laterality and randomization of asymmetric gene expression. We show that cfap53 is required for cilia rotation specifically in Kupffer's vesicle, the zebrafish laterality organ, providing a mechanism by which patients with CFAP53 mutations develop dextrocardia and heterotaxy, and confirming previous evidence that left-right asymmetry in humans is regulated through cilia-driven fluid flow in a laterality organ. © 2015 WILEY PERIODICALS, INC.

Risk factor profile and pregnancy outcome in women with type 1 and type 2 diabetes mellitus.

PubMed

Handisurya, Ammon; Bancher-Todesca, Dagmar; Schober, Edith; Klein, Katharina; Tobler, Karin; Schneider, Barbara; Pollak, Arnold; Husslein, Peter; Luger, Anton; Kautzky-Willer, Alexandra

2011-02-01

To assess differences in congenital anomalies, infant mortality, and obstetrical complications as well as risk factors associated with an adverse pregnancy outcome in women with type 1 (T1DM) and type 2 diabetes mellitus (T2DM). This observational study was performed at a university clinic and included a total of 200 singleton pregnancies between January 1995 and December 2006. Outcome measures comprise the prevalence of major congenital malformations, fetal losses, stillbirths, and neonatal deaths as well as the combined end point, adverse pregnancy outcome, and obstetrical complications. Despite changes in prevailing risk factors, the rate of congenital anomalies and embryonic as well as perinatal death was comparable in type 1 diabetic women over time as well as between women with T1DM and T2DM. Outcome measures and risk factor profile were similar in women with preconception and newly diagnosed T2DM. Glycemic control and increased body mass index (BMI) during the first trimester were the strongest predictors of an adverse pregnancy outcome. Hemoglobin A1c (HbA1c) was higher in T1DM than in T2DM but similar in women with T1DM over time. BMI was highest in women with T2DM, followed by T1DM women of the most recent time period. In addition to HbA1c, other risk factors, especially high BMI, strongly influence pregnancy outcome. The higher prevalence of these risk factors in T2DM might compensate for the better glycemic control, resulting in a pregnancy outcome comparable to that of T1DM. Pregnancy outcome in T1DM remained unchanged over time, possibly because of the missing amelioration of HbA1c levels and the increasing BMI.

Dental health and oral health-related quality of life in children with congenital bleeding disorders.

PubMed

Salem, K; Eshghi, P

2013-01-01

The purpose of this study was to investigate the dental and some other aspects of oral health status of young patients with congenital bleeding disorders (CBD) and the impact of these on their quality of life (OHR-QoL) compared with controls. DMFS-dmfs (Decayed, Missed, Filled Tooth surfaces in permanent and primary teeth) scores, Simplified oral hygiene index, occurance of hypoplasia of first permanent molars, Temporomandibular joint dysfunction and occlusion of 46 CBD patients at the age range of 2-15 years and 46 of other children as control were compared, and the impact of their oral health situation on quality of life was also investigated. Data were analysed by chi-square, t-test and Pearson correlation. Patients were significantly more caries-free with less decayed teeth in primary-permanent dentition (P = 0.03, t = -2.17).The mean scores of OHR-QoL of CBD patients and controls were not significantly different. Oral Bleeding was the significant variable in relation to 'oral health-related quality of life' in CBD groups (Pearson correlation, r = -0.56, P = 0.000). OHR-QoL in the control group was related to dmfs score (r = -0.392, P = 0.011) and male gender (r = -0.329, P = 0.026). Congenital bleeding disorder CBD patients were found to have a better dental health situation in primary dentition compared with controls; however, their 'oral health-related quality of life' was similar. Oral bleeding was the only significant factor related to OHR-QoL in CBD. It shows an overall importance of development of comprehensive care centres for CBD as the main cause of this achievement. © 2012 Blackwell Publishing Ltd.

Exposure of Polymer Film Thermal Control Materials on the Materials International Space Station Experiment (MISSE)

NASA Technical Reports Server (NTRS)

Dever, Joyce; Miller, Sharon; Messer, Russell; Sechkar, Edward; Tollis, Greg

2002-01-01

Seventy-nine samples of polymer film thermal control (PFTC) materials have been provided by the National Aeronautics and Space Administration (NASA) Glenn Research Center (GRC) for exposure to the low Earth orbit environment on the exterior of the International Space Station (ISS) as part of the Materials International Space Station Experiment (MISSE). MISSE is a materials flight experiment sponsored by the Air Force Research Lab/Materials Lab and NASA. This paper will describe background, objectives, and configurations for the GRC PFTC samples for MISSE. These samples include polyimides, fluorinated polyimides, and Teflon fluorinated ethylene propylene (FEP) with and without second-surface metallizing layers and/or surface coatings. Also included are polyphenylene benzobisoxazole (PBO) and a polyarylene ether benzimidazole (TOR-LM). On August 16, 2001, astronauts installed passive experiment carriers (PECs) on the exterior of the ISS in which were located twenty-eight of the GRC PFTC samples for 1-year space exposure. MISSE PECs for 3-year exposure, which will contain fifty-one GRC PFTC samples, will be installed on the ISS at a later date. Once returned from the ISS, MISSE GRC PFTC samples will be examined for changes in optical and mechanical properties and atomic oxygen (AO) erosion. Additional sapphire witness samples located on the AO exposed trays will be examined for deposition of contaminants.

CONGENITAL NUTRITIONAL MYODEGENERATION (WHITE MUSCLE DISEASE) IN A GIRAFFE ( GIRAFFA CAMELOPARDALIS) CALF.

PubMed

Bos, Jan H; Klip, Fokko C; Kik, Marja J L

2017-12-01

It is well known that vitamin E and selenium deficiencies in domestic ruminants can lead to white muscle disease. After a clinically normal gestation period at Ouwehand Zoo in the Netherlands, a newborn giraffe ( Giraffa camelopardalis) calf showed clinical signs of white muscle disease almost immediately after birth. The calf was rejected by the mother and was euthanized 3 days later because of deterioration of clinical signs. At necropsy, pulmonary edema and pallor of skeletal and heart muscles was noted. Histologically, there was hyaline degeneration of skeletal muscle myocytes and pulmonary edema. Blood concentrations of vitamin E were ≤ 0.7 mg/L. Based on clinical, biochemical, and gross and microscopic pathological findings, congenital nutritional myodegeneration was diagnosed. This case of neonatal white muscle disease is particularly remarkable given that the diet of the dam contained more than the recommended amount of vitamin E.

Craniofacial and dental manifestations of triple X syndrome associated with congenital hypothyroidism: a case report.

PubMed

Ferrazzo, Kívia Linhares; Payeras, Marcia Rodrigues; Ferrazzo, Vilmar Antonio; Mezomo, Maurício Barbieri

2014-01-01

Triple X syndrome (47,XXX) is a numerical chromosomal alteration that affects 1/1,000 women, in which the woman is born with an extra X chromosome. Some oral changes have been reported in the literature, as hypodontia, influence on deposition of crown enamel and discrepancies in cephalometric measurements. Other systemic complications may lead to oral abnormalities similar to those seen in triple X patients, such as congenital hypothyroidism (CH). This paper reports a triple X syndrome case associated with CH later treated. Besides delay in cognitive and intellectual development, the patient had changes in teeth development and in cephalometric measurements with deficiencies in the maxilla and mandible. This is the first report of a triple X syndrome associated with CH. Both conditions may result in changes in dentofacial development. © 2013 Special Care Dentistry Association and Wiley Periodicals, Inc.

Altered topology of neural circuits in congenital prosopagnosia.

PubMed

Rosenthal, Gideon; Tanzer, Michal; Simony, Erez; Hasson, Uri; Behrmann, Marlene; Avidan, Galia

2017-08-21

Using a novel, fMRI-based inter-subject functional correlation (ISFC) approach, which isolates stimulus-locked inter-regional correlation patterns, we compared the cortical topology of the neural circuit for face processing in participants with an impairment in face recognition, congenital prosopagnosia (CP), and matched controls. Whereas the anterior temporal lobe served as the major network hub for face processing in controls, this was not the case for the CPs. Instead, this group evinced hyper-connectivity in posterior regions of the visual cortex, mostly associated with the lateral occipital and the inferior temporal cortices. Moreover, the extent of this hyper-connectivity was correlated with the face recognition deficit. These results offer new insights into the perturbed cortical topology in CP, which may serve as the underlying neural basis of the behavioral deficits typical of this disorder. The approach adopted here has the potential to uncover altered topologies in other neurodevelopmental disorders, as well.

Epidemiology of and Diagnostic Strategies for Toxoplasmosis

PubMed Central

Dardé, Marie-Laure

2012-01-01

Summary: The apicomplexan parasite Toxoplasma gondii was discovered a little over 100 years ago, but knowledge of its biological life cycle and its medical importance has grown in the last 40 years. This obligate intracellular parasite was identified early as a pathogen responsible for congenital infection, but its clinical expression and the importance of reactivations of infections in immunocompromised patients were recognized later, in the era of organ transplantation and HIV infection. Recent knowledge of host cell-parasite interactions and of parasite virulence has brought new insights into the comprehension of the pathophysiology of infection. In this review, we focus on epidemiological and diagnostic aspects, putting them in perspective with current knowledge of parasite genotypes. In particular, we provide critical information on diagnostic methods according to the patient's background and discuss the implementation of screening tools for congenital toxoplasmosis according to health policies. PMID:22491772

Genetic heterogeneity in Usher syndrome.

PubMed

Keats, Bronya J B; Savas, Sevtap

2004-09-15

Mutations in seven different genes have been associated with Usher syndrome, and an additional four loci have been mapped. The identified genes encode myosin VIIa, harmonin (a PDZ-domain protein), cadherin 23, protocadherin 15, sans (a scaffold-like protein), usherin and clarin. Three clinical types of Usher syndrome have been described: USH1 patients have severe to profound congenital hearing loss, vestibular dysfunction, and retinal degeneration beginning in childhood, those with USH2 have moderate to severe congenital hearing loss, normal vestibular function, and later onset of retinitis pigmentosa, and USH3 patients have progressive hearing loss, which distinguishes them from the other two types. The shaker-1, waltzer, Ames waltzer, and Jackson shaker mice provide murine models for four of the genetic forms of Usher syndrome. Ongoing studies are enabling early diagnosis of Usher syndrome in children who present with hearing loss, thus providing time to prepare for the onset of visual loss. Copyright 2004 Wiley-Liss, Inc.

Can Fan-Beam Interactive Computed Tomography Accurately Predict Indirect Decompression in Minimally Invasive Spine Surgery Fusion Procedures?

PubMed

Janssen, Insa; Lang, Gernot; Navarro-Ramirez, Rodrigo; Jada, Ajit; Berlin, Connor; Hilis, Aaron; Zubkov, Micaella; Gandevia, Lena; Härtl, Roger

2017-11-01

Recently, novel mobile intraoperative fan-beam computed tomography (CT) was introduced, allowing for real-time navigation and immediate intraoperative evaluation of neural decompression in spine surgery. This study sought to investigate whether intraoperatively assessed neural decompression during minimally invasive spine surgery (MISS) has a predictive value for clinical and radiographic outcome. A retrospective study of patients undergoing intraoperative CT (iCT)-guided extreme lateral interbody fusion or transforaminal lumbar interbody fusion was conducted. 1) Preoperative, 2) intraoperative (after cage implantation, 3) postoperative, and 4) follow-up radiographic and clinical parameters obtained from radiography or CT were quantified. Thirty-four patients (41 spinal segments) were analyzed. iCT-based navigation was successfully accomplished in all patients. Radiographic parameters showed significant improvement from preoperatively to intraoperatively after cage implantation in both MISS procedures (extreme lateral interbody fusion/transforaminal lumbar interbody fusion) (P ≤ 0.05). Radiologic parameters for both MISS fusion procedures did not show significant differences to the assessed radiographic measures at follow-up (P > 0.05). Radiologic outcome values did not decrease when compared intraoperatively (after cage implantation) to latest follow-up. Intraoperative fan-beam CT is capable of assessing neural decompression intraoperatively with high accuracy, allowing for precise prediction of radiologic outcome and earliest possible feedback during MISS fusion procedures. These findings are highly valuable for routine practice and future investigations toward finding a threshold for neural decompression that translates into clinical improvement. If sufficient neural decompression has been confirmed with iCT imaging studies, additional postoperative and/or follow-up imaging studies might no longer be required if patients remain asymptomatic. Copyright © 2017 Elsevier Inc. All rights reserved.

Young children with severe congenital malformations (VACTERL) expressed mixed feelings about their condition and worries about needles and anaesthesia.

PubMed

Kassa, A-M; Engvall, G; Engstrand Lilja, H

2017-10-01

Our knowledge of the perceptions that children with severe congenital malformations have of their health, treatment and how to improve hospital care is limited. This study focused on patients with vertebral defects, anal atresia, cardiac defects, tracheo-oesophageal fistula, renal anomalies and limb abnormalities (VACTERL). We interviewed 10 children aged five to eight years with VACTERL association who were treated in a Swedish tertiary paediatric surgical centre, using a computer-assisted technique called In My Shoes. The interviews were analysed by qualitative content analysis. The children described their awareness of their health history and said they felt proud but different due to their physical dysfunction. They were happy to visit the hospital to meet familiar staff, but expressed negative feelings about missing normal life. They were afraid of needle-related procedures and not wakening up after anaesthesia. Various ways of coping with difficult situations were expressed, and suggestions to improve hospital care were voiced. Careful follow-up of these children by multidisciplinary teams is crucial to optimise their health and functional status. Fear of medical procedures may be reduced by carefully delivered information, listening to the children, providing continuity of care and creating individual care strategies. ©2017 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.

Lung volumes, ventricular function and pulmonary arterial flow in children operated on for left-sided congenital diaphragmatic hernia: long-term results.

PubMed

Abolmaali, Nasreddin; Koch, Arne; Götzelt, Knut; Hahn, Gabriele; Fitze, Guido; Vogelberg, Christian

2010-07-01

To compare MRI-based functional pulmonary and cardiac measurements in the long-term follow-up of children operated on for left-sided congenital diaphragmatic hernia (CDH) with age- and body size-matched healthy controls. Twelve children who received immediate postnatal surgery for closure of isolated left-sided CDH were included and received basic medical examinations, pulmonary function testing and echocardiography. MRI included measurement of lung volume, ventricular function assessment and velocity-encoded imaging of the pulmonary arteries and was compared with the data for 12 healthy children matched for age and body size. While patients' clinical test results were not suspicious, comparison between the MRI data for patients and those for healthy controls revealed significant differences. In patients, the volumes of the left lungs were increased and the tidal volume was larger on the right side. While the stroke volumes of both ventricles were reduced, heart rate and ejection fraction were increased. Flow, acceleration time and cross-sectional area of the left pulmonary artery were reduced. Functional MRI detected pulmonary and cardiac findings in the late follow-up of CDH children which may be missed by standard clinical methods and might be relevant for decisions regarding late outcome and treatment.

Using optical coherence tomography to rapidly phenotype and quantify congenital heart defects associated with prenatal alcohol exposure

PubMed Central

Karunamuni, Ganga; Gu, Shi; Doughman, Yong Qiu; Noonan, Amanda I.; Rollins, Andrew M.; Jenkins, Michael W.; Watanabe, Michiko

2014-01-01

Background The most commonly used method to analyze congenital heart defects involves serial sectioning and histology. However, this is often a time-consuming process where the quantification of cardiac defects can be difficult due to problems with accurate section registration. Here we demonstrate the advantages of using optical coherence tomography, a comparatively new and rising technology, to phenotype avian embryo hearts in a model of Fetal Alcohol Syndrome where a binge-like quantity of alcohol/ethanol was introduced at gastrulation. Results The rapid, consistent imaging protocols allowed for the immediate identification of cardiac anomalies, including ventricular septal defects and misaligned/missing vessels. Interventricular septum thicknesses and vessel diameters for three of the five outflow arteries were also significantly reduced. Outflow and atrio-ventricular valves were segmented using image processing software and had significantly reduced volumes compared to controls. This is the first study to our knowledge that has 3-D reconstructed the late-stage cardiac valves in precise detail in order to examine their morphology and dimensions. Conclusion We believe therefore that OCT, with its ability to rapidly image and quantify tiny embryonic structures in high resolution, will serve as an excellent and cost-effective preliminary screening tool for developmental biologists working with a variety of experimental/disease models. PMID:25546089

Flight Test Evaluation of the Airborne Information for Lateral Spacing (AILS) Concept

NASA Technical Reports Server (NTRS)

Abbott, Terence S.

2002-01-01

The Airborne Information for Lateral Spacing (AILS) concept is designed to support independent parallel approach operations to runways spaced as close as 2,500 feet. This report briefly describes the AILS operational concept and the results of a flight test of one implementation of this concept. The focus of this flight test experiment was to validate a prior simulator study, evaluating pilot performance, pilot acceptability, and minimum miss-distances for the rare situation in which an aircraft on one approach intrudes into the path of an aircraft on the other approach. Although the flight data set was not meant to be a statistically valid sample, the trends acquired in flight followed those of the simulator and therefore met the intent of validating the findings from the simulator. Results from this study showed that the design-goal mean miss-distance of 1,200 feet to potential collision situations was surpassed with an actual mean miss-distance of 1,859 feet. Pilot reaction times to the alerting system, which was an operational concern, averaged 0.65 seconds, were well below the design goal reaction time of 2.0 seconds. From the results of both of these tests, it can be concluded that this operational concept, with supporting technology and procedures, may provide an operationally viable means for conducting simultaneous, independent instrument approaches to runways spaced as close as 2500 ft.

Patent ductus arteriosus in an adult amur leopard (Panthera pardus orientalis).

PubMed

Douay, Guillaume; Drut, Amandine; Ribas, Thibault; Gomis, David; Graille, Mélanie; Lemberger, Karin; Bublot, Isabelle

2013-03-01

A clinically healthy 16-yr-old female leopard (Panthera pardus orientalis) was diagnosed with a patent ductus arteriosus on echocardiography and later confirmed on necropsy A murmur was heard on auscultation during a routine examination, and the congenital defect was an incidental finding. The animal had been asymptomatic its entire life. This deformity is rarely observed in nondomestic felids and may be asymptomatic, as has been described in domestic cats.

Congenital Panfollicular Nevus in a 6-Month-Old Girl.

PubMed

Duan, Linna; Antaya, Richard J; Ko, Christine J; Narayan, Deepak

2016-01-01

A 6-month-old girl presented with an irregular nodule on the right lateral neck. The lesion, which superficially resembled a lymphangioma or mastocytoma, had been present since birth but had recently been growing. The patient was referred for surgical resection. Microscopic findings were compatible with a recently described rare hamartoma termed "panfollicular nevus," which is a well-circumscribed lesion containing aberrantly differentiated, clustered hair follicles in high density. © 2016 Wiley Periodicals, Inc.

Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.

PubMed

Vetrini, Francesco; D'Alessandro, Lisa C A; Akdemir, Zeynep C; Braxton, Alicia; Azamian, Mahshid S; Eldomery, Mohammad K; Miller, Kathryn; Kois, Chelsea; Sack, Virginia; Shur, Natasha; Rijhsinghani, Asha; Chandarana, Jignesh; Ding, Yan; Holtzman, Judy; Jhangiani, Shalini N; Muzny, Donna M; Gibbs, Richard A; Eng, Christine M; Hanchard, Neil A; Harel, Tamar; Rosenfeld, Jill A; Belmont, John W; Lupski, James R; Yang, Yaping

2016-10-06

Disruption of the establishment of left-right (L-R) asymmetry leads to situs anomalies ranging from situs inversus totalis (SIT) to situs ambiguus (heterotaxy). The genetic causes of laterality defects in humans are highly heterogeneous. Via whole-exome sequencing (WES), we identified homozygous mutations in PKD1L1 from three affected individuals in two unrelated families. PKD1L1 encodes a polycystin-1-like protein and its loss of function is known to cause laterality defects in mouse and medaka fish models. Family 1 had one fetus and one deceased child with heterotaxy and complex congenital heart malformations. WES identified a homozygous splicing mutation, c.6473+2_6473+3delTG, which disrupts the invariant splice donor site in intron 42, in both affected individuals. In the second family, a homozygous c.5072G>C (p.Cys1691Ser) missense mutation was detected in an individual with SIT and congenital heart disease. The p.Cys1691Ser substitution affects a highly conserved cysteine residue and is predicted by molecular modeling to disrupt a disulfide bridge essential for the proper folding of the G protein-coupled receptor proteolytic site (GPS) motif. Damaging effects associated with substitutions of this conserved cysteine residue in the GPS motif have also been reported in other genes, namely GPR56, BAI3, and PKD1 in human and lat-1 in C. elegans, further supporting the likely pathogenicity of p.Cys1691Ser in PKD1L1. The identification of bi-allelic PKD1L1 mutations recapitulates previous findings regarding phenotypic consequences of loss of function of the orthologous genes in mice and medaka fish and further expands our understanding of genetic contributions to laterality defects in humans. Copyright © 2016 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

Mortality and missed opportunities along the pathway of care for ST-elevation myocardial infarction: a national cohort study.

PubMed

Simms, A D; Weston, C F; West, R M; Hall, A S; Batin, P D; Timmis, A; Hemingway, H; Fox, Kaa; Gale, C P

2015-06-01

To examine the association between cumulative missed opportunities for care (CMOC) and mortality in patients with ST-elevation myocardial infarction (STEMI). A cohort study of 112,286 STEMI patients discharged from hospital alive between January 2007 and December 2010, using data from the Myocardial Ischaemia National Audit Project (MINAP). A CMOC score was calculated for each patient and included: pre-hospital ECG, acute use of aspirin, timely reperfusion, prescription at hospital discharge of aspirin, thienopyridine inhibitor, ACE-inhibitor (or equivalent), HMG-CoA reductase inhibitor and β-blocker, and referral for cardiac rehabilitation. Mixed-effects logistic regression models evaluated the effect of CMOC on risk-adjusted 30-day and 1-year mortality (RAMR). 44.5% of patients were ineligible for ≥1 care component. Of patients eligible for all nine components, 50.6% missed ≥1 opportunity. Pre-hospital ECG and timely reperfusion were most frequently missed, predicting further missed care at discharge (pre-hospital ECG incident rate ratio [95% CI]: 1.64 [1.58-1.70]; timely reperfusion 9.94 [9.51-10.40]). Patients ineligible for care had higher RAMR than those eligible for care (30-days: 1.7% vs. 1.1%; 1-year: 8.6% vs. 5.2%), whilst those with no missed care had lower mortality than patients with ≥4 CMOC (30-days: 0.5% vs. 5.4%, adjusted OR (aOR) per CMOC group 1.22, 95% CI: 1.05-1.42; 1-year: 3.2% vs. 22.8%, aOR 1.23, 1.13-1.34). Opportunities for care in STEMI are commonly missed and significantly associated with early and later mortality. Thus, outcomes after STEMI may be improved by greater attention to missed opportunities to eligible care. © The European Society of Cardiology 2014.

The case of the missing third.

PubMed

Robertson, Robin

2005-01-01

How is it that form arises out of chaos? In attempting to deal with this primary question, time and again a "Missing Third" is posited that lies between extremes. The problem of the "Missing Third" can be traced through nearly the entire history of thought. The form it takes, the problems that arise from it, the solutions suggested for resolving it, are each representative of an age. This paper traces the issue from Plato and Parmenides in the 4th--5th centuries, B.C.; to Neoplatonism in the 3rd--5th centuries; to Locke and Descartes in the 17th century; on to Berkeley and Kant in the 18th century; Fechner and Wundt in the 19th century; to behaviorism and Gestalt psychology, Jung, early in the 20th century, ethology and cybernetics later in the 20th century, then culminates late in the 20th century, with chaos theory.

Congenital and genetic cerebrovascular anomalies as risk factors for stroke in Saudi children.

PubMed

Salih, Mustafa A; Murshid, Waleed R; Zahraa, Jihad N; Abdel-Gader, Abdel-Galil M; Al-Jarallah, Ahmed A; Kentab, Amal Y; Alorainy, Ibrahim A; Hassan, Hamdy H; Tjan, Giap T

2006-03-01

To explore the role of and report on congenital and genetic cerebrovascular anomalies as risk factors for stroke in a prospective and retrospective cohort of Saudi children. Children with stroke were evaluated at the Division of Pediatric Neurology (DPN), or were seen as inpatients in the Pediatric Wards at King Khalid University Hospital (KKUH), Riyadh, Kingdom of Saudi Arabia during the periods July 1992 to February 2001 (retrospective study) and February 2001 to March 2003 (prospective study). Stroke work-up for each suspected case included hemostatic assays, serological, biochemical and neurophysiological tests. Neuroimaging modalities included routine skull x-rays, CT, MRI, magnetic resonance angiography (MRA) and conventional cerebral angiography. Of 104 children with stroke, congenital and genetic cerebrovascular anomalies were the underlying risk factor in 7 (6.7%). The patients were evaluated at the DPN at a mean age of 66 months (range = 8 months to 11 years, median = 6 years); and they had stroke at a mean age of 48 months (range = 2 months to 10 years, median = 8 months). Four patients had stroke in association with neurocutaneous syndromes. Two had Sturge-Weber syndrome (SWS), one had Klippel-Trenaunay syndrome associated with SWS, and the fourth had neurofibromatosis type 1. Two patients had intracranial hemorrhage secondary to ruptured aneurysm. A girl (aged 9 years and 4 months) had left posterior cerebral artery aneurysm. She was diagnosed to have autosomal dominant polycystic kidney disease following renal ultrasonography. She died 5 months later despite surgical intervention (clipping of aneurysm). The second child was an 8-month-old boy who presented with subarachnoid and intraventricular hemorrhage (IVH) following ruptured anterior communicating artery aneurysm. He recovered with no residual symptoms following successful clipping of the aneurysm. Arteriovenous malformation (AVM) caused IVH in a 7-year-old boy who reported to hospital 5 hours after onset of headache, vomiting, drowsiness, and dizziness. Following drainage of the IVH and stabilization of the patient, the AVM was successfully embolized 6 weeks later. As a group, congenital and genetic cerebrovascular anomalies constitute a significant risk factor for stroke in Saudi children. Recognition of these diseases is important since some are treatable and because other family members may be at risk.

Ma_Miss Experiment: miniaturized imaging spectrometer for subsurface studies

NASA Astrophysics Data System (ADS)

Coradini, A.; Ammannito, E.; Boccaccini, A.; de Sanctis, M. C.; di Iorio, T.; Battistelli, E.; Capanni, A.

2011-10-01

The study of the Martian subsurface will provide important constraints on the nature, timing and duration of alteration and sedimentation processes on Mars, as well as on the complex interactions between the surface and the atmosphere. A Drilling system, coupled with an in situ analysis package, is installed on the Exomars-Pasteur Rover to perform in situ investigations up to 2m in the Mars soil. Ma_Miss (Mars Multispectral Imager for Subsurface Studies) is a spectrometer devoted to observe the lateral wall of the borehole generated by the Drilling system. The instrument is fully integrated with the Drill and shares its structure and electronics.

Congenital Syphilis of Bone: A Potential Mimicker of Childhood Histiocytoses.

PubMed

Zou, Youran; Marcus, Matthew A; Castles, C Guy; Kilpatrick, Scott E

2017-09-01

Involvement of the skeletal system by congenital syphilis is well documented in the literature, chiefly in the form of radiologic studies, including periostitis, osteitis, and osteochondritis. Because congenital syphilis is generally recognized clinically, tissue biopsy is virtually never performed. Therefore, the histopathologic findings are less well documented and mostly exist in the older literature. We report herein the clinicoradiologic and pathologic features of a 2-month-old infant who initially presented with absence of left arm movement. Radiographs of the left humerus revealed a mid diaphyseal cortical irregularity/lytic lesion and periosteal reaction. Follow-up skeletal survey showed similar findings in other extremity long bones. A bone biopsy of the humeral lesion revealed a destructive fibrohistiocytic process composed of a sheet-like proliferation of epithelioid to spindled histiocytes, without obvious granulomas, accompanied by occasional lymphocytes and neutrophils with rare plasma cells. Immunohistochemical stains showed diffuse positivity for CD31, CD68, and S-100, but CD1a was negative. Initially, the case was interpreted as "atypical fibrohistiocytic proliferation," favoring Langerhans cell histiocytosis. A few days later the results of serologic testing revealed a rapid plasma reagin of 1:256. Immunostaining for Treponema pallidum on the initial biopsy confirmed the presence of innumerable spirochetes, with a predilection for blood vessels. The patient was treated with a 10-day course of intravenous penicillin with complete resolution of the bone lesions and resulting symptomatology. To our knowledge, the above pathologic features of congenital syphilis of bone, especially in regards to its mimicry of childhood histiocytoses, have not been previously reported.

Graduate Student Teacher Training: Still Relevant (And Missing?) 20 Years Later

ERIC Educational Resources Information Center

Blouin, David D.; Moss, Alison R.

2015-01-01

Twenty years ago, Pescosolido and Milkie (1995) reported that 50 percent of U.S. and Canadian sociology graduate programs offered formal teacher training. Despite pronouncements that offerings have increased substantially, no similarly thorough and direct investigation has been published since. In this time of dramatic change and increasing…

Supporting Children's Oral Language Development in the Preschool Classroom

ERIC Educational Resources Information Center

Whorrall, Jennifer; Cabell, Sonia Q.

2016-01-01

Supporting children's oral language development during the preschool years is critical for later reading success. Research shows that preschool teachers may be missing opportunities to engage children in the kinds of conversations that foster the development of rich oral language skills. Teachers hoping to support these skills can provide children…

Economic evaluation of laboratory testing strategies for hospital-associated Clostridium difficile infection.

PubMed

Schroeder, Lee F; Robilotti, Elizabeth; Peterson, Lance R; Banaei, Niaz; Dowdy, David W

2014-02-01

Clostridium difficile infection (CDI) is the most common cause of infectious diarrhea in health care settings, and for patients presumed to have CDI, their isolation while awaiting laboratory results is costly. Newer rapid tests for CDI may reduce this burden, but the economic consequences of different testing algorithms remain unexplored. We used decision analysis from the hospital perspective to compare multiple CDI testing algorithms for adult inpatients with suspected CDI, assuming patient management according to laboratory results. CDI testing strategies included combinations of on-demand PCR (odPCR), batch PCR, lateral-flow diagnostics, plate-reader enzyme immunoassay, and direct tissue culture cytotoxicity. In the reference scenario, algorithms incorporating rapid testing were cost-effective relative to nonrapid algorithms. For every 10,000 symptomatic adults, relative to a strategy of treating nobody, lateral-flow glutamate dehydrogenase (GDH)/odPCR generated 831 true-positive results and cost $1,600 per additional true-positive case treated. Stand-alone odPCR was more effective and more expensive, identifying 174 additional true-positive cases at $6,900 per additional case treated. All other testing strategies were dominated by (i.e., more costly and less effective than) stand-alone odPCR or odPCR preceded by lateral-flow screening. A cost-benefit analysis (including estimated costs of missed cases) favored stand-alone odPCR in most settings but favored odPCR preceded by lateral-flow testing if a missed CDI case resulted in less than $5,000 of extended hospital stay costs and <2 transmissions, if lateral-flow GDH diagnostic sensitivity was >93%, or if the symptomatic carrier proportion among the toxigenic culture-positive cases was >80%. These results can aid guideline developers and laboratory directors who are considering rapid testing algorithms for diagnosing CDI.

Economic Evaluation of Laboratory Testing Strategies for Hospital-Associated Clostridium difficile Infection

PubMed Central

Robilotti, Elizabeth; Peterson, Lance R.; Banaei, Niaz; Dowdy, David W.

2014-01-01

Clostridium difficile infection (CDI) is the most common cause of infectious diarrhea in health care settings, and for patients presumed to have CDI, their isolation while awaiting laboratory results is costly. Newer rapid tests for CDI may reduce this burden, but the economic consequences of different testing algorithms remain unexplored. We used decision analysis from the hospital perspective to compare multiple CDI testing algorithms for adult inpatients with suspected CDI, assuming patient management according to laboratory results. CDI testing strategies included combinations of on-demand PCR (odPCR), batch PCR, lateral-flow diagnostics, plate-reader enzyme immunoassay, and direct tissue culture cytotoxicity. In the reference scenario, algorithms incorporating rapid testing were cost-effective relative to nonrapid algorithms. For every 10,000 symptomatic adults, relative to a strategy of treating nobody, lateral-flow glutamate dehydrogenase (GDH)/odPCR generated 831 true-positive results and cost $1,600 per additional true-positive case treated. Stand-alone odPCR was more effective and more expensive, identifying 174 additional true-positive cases at $6,900 per additional case treated. All other testing strategies were dominated by (i.e., more costly and less effective than) stand-alone odPCR or odPCR preceded by lateral-flow screening. A cost-benefit analysis (including estimated costs of missed cases) favored stand-alone odPCR in most settings but favored odPCR preceded by lateral-flow testing if a missed CDI case resulted in less than $5,000 of extended hospital stay costs and <2 transmissions, if lateral-flow GDH diagnostic sensitivity was >93%, or if the symptomatic carrier proportion among the toxigenic culture-positive cases was >80%. These results can aid guideline developers and laboratory directors who are considering rapid testing algorithms for diagnosing CDI. PMID:24478478

Neurocutaneous melanosis and the Dandy-Walker complex: an uncommon but not so insignificant association.

PubMed

Marnet, Dominique; Vinchon, Matthieu; Mostofi, Keyvan; Catteau, Benoit; Kerdraon, Olivier; Dhellemmes, Patrick

2009-12-01

Neurocutaneous melanosis represents a rare congenital but nonheritable phakomatosis defined as the association of giant or multiple congenital nonmalignant melanocytic nevi with leptomeningeal melanosis or melanoma of the central nervous system. We describe the case of an adolescent with a giant congenital bathing trunk melanocytic nevus who developed progressive intracranial hypertension due to leptomeningeal melanosis confirmed by surgical biopsy. Brain and spine magnetic resonance images showed posterior fossa malformation compatible with the Dandy-Walker complex, hydrocephalus, and extensive enhancement of posterior fossa then spine. Shunt placement, corticotherapy, and chemotherapy were attempted leading to transient relief but the boy died 12 months after the onset of primary neurological symptoms. We discuss diagnosis, pathogenesis, management, and prognosis in the light of data from the recent literature. Neurocutaneous melanosis is considered to follow from neurulation disorders which could account for associated developmental malformations as the so-called Dandy-Walker complex. Cutaneous lesions are usually recognized at birth whereas neurological manifestations develop later. Numerous neurological symptoms have been reported according to extent of leptomeningeal and parenchymal infiltration. Whether magnetic resonance imaging of the neuroaxis represents the choice radiological exam, definite diagnosis relies upon the histological data obtained by mean of biopsy. Once symptomatic, surgical and medical measures remain palliative since death occurs within 3 years.

Trauma due to Self-aggression in Patient with Waardenburg Syndrome associated with Congenital Anomalies.

PubMed

Marta, Sara Nader; Kawakami, Roberto Yoshio; Sgavioli, Claudia Almeida Prado Piccino; Correa, Ana Eliza; D'Árk de Oliveira El Kadre, Guaniara; Carvalho, Ricardo Sandri

2016-08-01

Waardenburg syndrome (WS) is an inherited autosomal dominant genetic disorder presenting variable penetrance and expressivity, with an estimated prevalence of 1:42,000. Clinical characteristics of WS include lateral displacement of the internal eye canthus, hyperplasia of the medial portion of the eyebrows, prominent and broad nasal base, congenital deafness, pigmentation of the iris and skin, and white forelock. A 24-year-old male patient, previously diagnosed with WS, was referred to the Special Needs Dental Clinic of Sacred Heart University, Bauru, Brazil. Parents reported that the patient was experiencing self-mutilation, particularly in the oral region. He presented multiple congenital anomalies, including anophthalmia, mental retardation, low-set ears, and leg deformities. Clinical oral examination revealed hypodontia, abnormalities in dental morphology, extensive dental caries, periodontal disease, and fistulae. Extensive scars on the tongue, lips, and hands caused by self-mutilation were also observed. In accordance with his family and neurologist, full-mouth extraction under general anesthesia was performed, especially considering his severe self-aggressive behavior and the necessity to be fed with soft-food diet due to his inability to chew. After the surgical procedure, a significant reduction in the patient's irritability and gain of weight were reported in the follow-ups of 30, 60, and 180 days.

[Lateral chest X-rays. Radiographic anatomy].

PubMed

García Villafañe, C; Pedrosa, C S

2014-01-01

Lateral chest views constitute an essential part of chest X-ray examinations, so it is fundamental to know the anatomy on these images and to be able to detect the variations manifested on these images in different diseases. The aim of this article is to review the normal anatomy and main normal variants seen on lateral chest views. For teaching purposes, we divide the thorax into different spaces and analyze each in an orderly way, especially emphasizing the anatomic details that are most helpful for locating lesions that have already been detected in the posteroanterior view or for detecting lesions that can be missed in the posteroanterior view. Copyright © 2013 SERAM. Published by Elsevier Espana. All rights reserved.

The value of digital tomosynthesis of the chest as a problem-solving tool for suspected pulmonary nodules and hilar lesions detected on chest radiography.

PubMed

Galea, Angela; Dubbins, Paul; Riordan, Richard; Adlan, Tarig; Roobottom, Carl; Gay, David

2015-05-01

To assess the capability of digital tomosynthesis (DTS) of the chest compared to a postero-anterior (PA) and lateral chest radiograph (CXR) in the diagnosis of suspected but unconfirmed pulmonary nodules and hilar lesions detected on a CXR. Computed tomography (CT) was used as the reference standard. 78 patients with suspected non-calcified pulmonary nodules or hilar lesions on their CXR were included in the study. Two radiologists, blinded to the history and CT, prospectively analysed the CXR (PA and lateral) and the DTS images using a picture archiving and communication workstation and were asked to designate one of two outcomes: true intrapulmonary lesion or false intrapulmonary lesion. A CT of the chest performed within 4 weeks of the CXR was used as the reference standard. Inter-observer agreement and time to report the modalities were calculated for CXR and DTS. There were 34 true lesions confirmed on CT, 12 were hilar lesions and 22 were peripheral nodules. Of the 44 false lesions, 37 lesions were artefactual or due to composite shadow and 7 lesions were real but extrapulmonary simulating non-calcified intrapulmonary lesions. The PA and lateral CXR correctly classified 39/78 (50%) of the lesions, this improved to 75/78 (96%) with DTS. The sensitivity and specificity was 0.65 and 0.39 for CXR and 0.91 and 1 for DTS. Based on the DTS images, readers correctly classified all the false lesions but missed 3/34 true lesions. Two of the missed lesions were hilar in location and one was a peripheral nodule. All three missed lesions were incorrectly classified on DTS as composite shadow. DTS improves diagnostic confidence when compared to a repeat PA and lateral CXR in the diagnosis of both suspected hilar lesions and pulmonary nodules detected on CXR. DTS is able to exclude most peripheral pulmonary nodules but caution and further studies are needed to assess its ability to exclude hilar lesions. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

Oscillatory activity reflects differential use of spatial reference frames by sighted and blind individuals in tactile attention.

PubMed

Schubert, Jonathan T W; Buchholz, Verena N; Föcker, Julia; Engel, Andreas K; Röder, Brigitte; Heed, Tobias

2015-08-15

Touch can be localized either on the skin in anatomical coordinates, or, after integration with posture, in external space. Sighted individuals are thought to encode touch in both coordinate systems concurrently, whereas congenitally blind individuals exhibit a strong bias for using anatomical coordinates. We investigated the neural correlates of this differential dominance in the use of anatomical and external reference frames by assessing oscillatory brain activity during a tactile spatial attention task. The EEG was recorded while sighted and congenitally blind adults received tactile stimulation to uncrossed and crossed hands while detecting rare tactile targets at one cued hand only. In the sighted group, oscillatory alpha-band activity (8-12Hz) in the cue-target interval was reduced contralaterally and enhanced ipsilaterally with uncrossed hands. Hand crossing attenuated the degree of posterior parietal alpha-band lateralization, indicating that attention deployment was affected by external spatial coordinates. Beamforming suggested that this posture effect originated in the posterior parietal cortex. In contrast, cue-related lateralization of central alpha-band as well as of beta-band activity (16-24Hz) were unaffected by hand crossing, suggesting that these oscillations exclusively encode anatomical coordinates. In the blind group, central alpha-band activity was lateralized, but did not change across postures. The pattern of beta-band activity was indistinguishable between groups. Because the neural mechanisms for posterior alpha-band generation seem to be linked to developmental vision, we speculate that the lack of this neural mechanism in blind individuals is related to their preferred use of anatomical over external spatial codes in sensory processing. Copyright © 2015 Elsevier Inc. All rights reserved.

Impaired pitch perception and memory in congenital amusia: the deficit starts in the auditory cortex.

PubMed

Albouy, Philippe; Mattout, Jérémie; Bouet, Romain; Maby, Emmanuel; Sanchez, Gaëtan; Aguera, Pierre-Emmanuel; Daligault, Sébastien; Delpuech, Claude; Bertrand, Olivier; Caclin, Anne; Tillmann, Barbara

2013-05-01

Congenital amusia is a lifelong disorder of music perception and production. The present study investigated the cerebral bases of impaired pitch perception and memory in congenital amusia using behavioural measures, magnetoencephalography and voxel-based morphometry. Congenital amusics and matched control subjects performed two melodic tasks (a melodic contour task and an easier transposition task); they had to indicate whether sequences of six tones (presented in pairs) were the same or different. Behavioural data indicated that in comparison with control participants, amusics' short-term memory was impaired for the melodic contour task, but not for the transposition task. The major finding was that pitch processing and short-term memory deficits can be traced down to amusics' early brain responses during encoding of the melodic information. Temporal and frontal generators of the N100m evoked by each note of the melody were abnormally recruited in the amusic brain. Dynamic causal modelling of the N100m further revealed decreased intrinsic connectivity in both auditory cortices, increased lateral connectivity between auditory cortices as well as a decreased right fronto-temporal backward connectivity in amusics relative to control subjects. Abnormal functioning of this fronto-temporal network was also shown during the retention interval and the retrieval of melodic information. In particular, induced gamma oscillations in right frontal areas were decreased in amusics during the retention interval. Using voxel-based morphometry, we confirmed morphological brain anomalies in terms of white and grey matter concentration in the right inferior frontal gyrus and the right superior temporal gyrus in the amusic brain. The convergence between functional and structural brain differences strengthens the hypothesis of abnormalities in the fronto-temporal pathway of the amusic brain. Our data provide first evidence of altered functioning of the auditory cortices during pitch perception and memory in congenital amusia. They further support the hypothesis that in neurodevelopmental disorders impacting high-level functions (here musical abilities), abnormalities in cerebral processing can be observed in early brain responses.

[Hermaphroditos in Greek mythology--DSD in moderne medicine].

PubMed

Oestmann, A; Mullis, P E; Stanga, Z

2009-01-07

We report a case of 34 year old woman how has been hospitalized at the age of 6 month with persistent vomitus. The vomitus was found to be caused by adrenal insufficiency with lack of all hormones of steroidobiosynthesis. The phenotypical femal child was diagnosed to have congenital lipoid adrenal hyperplasia with 46,XY DSD. 24 years later a homozygote mutation in the StAR-gene (L260P), which was first described in Switzerland, has been identified.

Transition from paediatric to adult care of adolescent patients with congenital heart disease: a pathway to optimal care.

PubMed

Strijbosch, A M M; Zwart, R; Blom, N A; Bouma, B J; Groenink, M; Boekholdt, S M; de Winter, R; Mulder, B J M; Backx, A P

2016-11-01

Adolescents with congenital heart disease transition from a paediatric to an adult setting. This is associated with loss-to-follow-up and suboptimal care. Increasing numbers of patients justify a special program. In this study we evaluated the cooperative program between paediatric and adult cardiology departments in a tertiary referral centre. In this retrospective study, patients with congenital heart disease with at least one appointment scheduled at the transition program between January 2010 and January 2015 were included. They were seen by a paediatric cardiologist at the age of 15 years in the paediatric department and from age 18 to 25 in the adult department. Demographic and medical data were collected from the electronic patient files. A total of 193 patients (105 males, 88 females) were identified. Sex distribution was almost equal. Most patients were 18-21 years of age. The largest group, 128 patients (67 %), lived within 50 kilometres of our hospital. Paediatric cardiologists referred 157 (81 %) of patients. General practitioners and cardiologists from outside our centre were important referrers for patients lost to follow-up, together accounting for 9 %. A total of 34 (18 %) patients missed an appointment without notification. Repeat offenders, 16 of 34 patients, formed a significant minority within this group. A total of 114 (59 %) patients were attending school, 46 (24 %) were employed, and 33 (17 %) patients were inactive. Activities are in line with capabilities. A nurse practitioner was involved with the 7 % with complex and psychosocial problems. Moderately severe congenital heart defects formed the largest patient category of 102 (53 %) patients. In 3 % of patients the diagnosis had to be revised or was significantly incomplete. In 30 (16 %) patients, cardiac diagnosis was part of a syndrome. Of the 193 patients, 117 (92 %) were in NYHA class I, with 12 (6 %) and 4 (2 %) patients falling into classes II and III, respectively. A viable transition program can be built by collaboration between paediatric and adult cardiology departments with the same treating physician taking care of patients between 15 and 25 years of age. General practitioners are important in returning lost-to-follow-up patients to specialised care. Nurse practitioners are essential in the care for patients with complex congenital heart disease.

“Targeted” Screening for Cytomegalovirus (CMV)-Related Hearing Loss: It’s Time for Universal CMV Screening in the NICU!

PubMed Central

Medoro, Alexandra; Malhotra, Prashant; Shimamura, Masako; Hounam, Gina; Findlen, Ursula; Wozniak, Phillip; Foor, Nicholas; Adunka, Oliver; Sanchez, Pablo J

2017-01-01

Abstract Background Congenital CMV infection is the leading cause of non-genetic sensorineural hearing loss in infancy. Antiviral therapy has been shown to improve hearing outcomes, and thus “targeted” CMV screening for newborns who do not pass the hearing screen has been recommended. Diagnosis of congenital CMV infection requires that the infant be tested for CMV in the first 3 weeks of age. Our objective was to determine when infants in the neonatal intensive care unit (NICU) have their first hearing screen performed and thus inform the practice of targeted screening for determination of CMV-related hearing loss. Methods Retrospective review of the electronic health records of all infants admitted to the Level 4 outborn NICU at Nationwide Children’s Hospital, Columbus, OH from August 2016 to May 2017. Demographic and clinical data were obtained, and the age that the first hearing screen was performed was assessed. Results During the 10 month study period, 362 infants were admitted to the NICU and had a first hearing screen performed. The majority of neonates (204, 56%) had a first hearing screen performed in the first 3 weeks of age. However, 158 (44%; median birth weight [IQR], 1072 g [747–1766]; median gestational age [IQR], 28 weeks [25–32]) infants received the first hearing screen at >3 weeks of age when a positive CMV PCR or culture cannot distinguish congenital infection from intrapartum/postnatal acquisition of CMV. Of the 158 infants, 20 (13%) did not pass the first hearing screen (13, unilateral; 7, bilateral), and subsequently, 9 of them did pass a second hearing screen. However, 11 of the 20 infants did not pass a second hearing screen and had urine CMV PCR testing, and 1 (9%) was positive. This latter infant’s newborn dried blood spot CMV DNA PCR was negative so a diagnosis of congenital CMV infection was not possible. Conclusion Targeted screening in the NICU for CMV-related hearing loss is problematic as a substantial number of infants do not have a hearing screen performed until after 21 days of age, thus representing a missed opportunity for diagnosis of congenital CMV infection and institution of antiviral therapy if indicated. Our findings support universal CMV screening of neonates on admission to the NICU. Disclosures O. Adunka, MED-EL Corporation: Consultant, Consulting fee, Educational grant and Research support; Advanced Bionics: Consultant, Consulting fee and Licensing agreement or royalty; Advanced Cochlear Diagnostics: President, Ownership interest; AGTC Corporation: Consultant, Consulting fee

Congenital methemoglobinemia misdiagnosed as polycythemia vera: Case report and review of literature.

PubMed

Soliman, Dina Sameh; Yassin, Mohamed

2018-03-02

Methemoglobinemia is a rare overlooked differential diagnosis in patients presented with cyanosis and dyspnea unrelated to cardiopulmonary causes. Our patient is 29 year old Indian non-smoker male, his story started 6 months prior to presentation to our center when he had generalized fatigue and discoloration of hands. He presented with persistent polycythemia with elevated hemoglobin level. The patient was misdiagnosed in another center as polycythemia and treated with Imatinib. The diagnosis of PV was revisited and ruled out in view of negative JAK2, normal erythropoietin level and absence of features of panmyelosis. Clinical cyanosis and lowoxygen saturation in the presence of normal arterial oxygen tension was highly suggestive of methemoglobinemia. Arterial blood gas revealed a methemoglobin level of 38% (normal: 0-1.5%). Cytochrome B5 reductase (Methemoglobin reductase B) was deficient at level of <2.6 U/g Hb) (normal: 6.6-13.3), consistent with methemoglobin reductase (cytochrome b5) deficiency and hence the diagnosis of congenital methemoglobinemia was established. The role of Imatinib in provoking methemoglobinemia is questionable and association between Imatinib and methemoglobinemia never described before. In our case, there were no other offending drugs in aggravating the patients' symptoms and cyanosis. The patient started on Vitamin C 500 mg once daily for which he responded well with less cyanosis and significant reduction of methemoglobin level. Congenital methemoglobinemia is a rare underreported hemoglobin disease and often clinically missed. Upon extensive review of English literature for cases of congenital methemoglobinemia due to deficiency of cytochrome b5 reductase, we found 23 cases diagnosed as type I (including the case reported here). 17 cases (~74%) of type I and 6 cases (27%) of type II. There is male predominance 73% versus 26% in females. Almost half of reported cases 12 cases (52%) are Indian, 2 Japanese, 3 English, 2 Arabic, one case Spanish and one case Italian. For type I, the median calculated age is 31 years with cyanosis and shortness of breath being the most common sign and symptoms. For type II: Six cases were reported in English literature, all in pediatric age group with median calculated age at presentation is 6 years with neurologic manifestations and mental retardation are the most common type II associated symptoms. Due to lack of systematic epidemiological studies, congenital methemoglobinemia is under diagnosed as it is under investigated and usually overlooked especially when presenting in adulthood and in absence of obvious acquired agents.

Elementary School Reorganization: Looking Back One Year Later.

ERIC Educational Resources Information Center

Vann, Allan S.

1993-01-01

Evaluates a small New York school district's efforts to reorganize its two K-5 elementary schools into one K-2 primary grade school and one 3-5 intermediate school, focusing on student, staff, and parent reactions. Although the new arrangement created more focused schools, the intermediate principal misses the energy deriving from the Kindergarten…

Sexual dimorphism of sulcal length asymmetry in the cerebrum of adult cynomolgus monkeys (Macaca fascicularis).

PubMed

Imai, Noritaka; Sawada, Kazuhiko; Fukunishi, Katsuhiro; Sakata-Haga, Hiromi; Fukui, Yoshihiro

2011-12-01

The present study aimed to quantitatively clarify the gross anatomical asymmetry and sexual dimorphism of the cerebral hemispheres of cynomolgus monkeys. While the fronto-occipital length of the right and left cerebral hemispheres was not different between sexes, a statistically significant rightward asymmetry was detected in the cerebral width at the perisylvian region in females, but not in males (narrower width of the left side in the females). An asymmetry quotient of the sulcal lengths revealed a rightward asymmetry in the inferior occipital sulcus and a leftward asymmetry in the central and intraparietal sulci in both sexes. However, the laterality of the lengths of other sulci was different for males and females. The arcuate sulcus was directed rightward in males but there was no rightward bias in females. Interestingly, the principle sulcus and lateral fissure were left-lateralized in the males, but right-lateralized in the females. The results suggest that lateralization patterns are regionally and sexually different in the cerebrum of cynomolgus monkeys. The present results provide a reference for quantitatively evaluating the normality of the cerebral cortical morphology in cynomolgus monkeys. © 2011 The Authors. Congenital Anomalies © 2011 Japanese Teratology Society.

Effects of fried potato chip supplementation on mouse pregnancy and fetal development.

PubMed

El-Sayyad, Hassan I; Abou-Egla, Mohamed H; El-Sayyad, Fawkia I; El-Ghawet, Heba A; Gaur, Rajiv L; Fernando, Augusta; Raj, Madhwa H G; Ouhtit, Allal

2011-03-01

Acrylamide (ACR), a proven rodent carcinogen, is present at significantly high quantities in commonly consumed foods such as potato chips, raising a health concern worldwide. The effects of ACR and fried potato chips (FPC) on pregnant mice and their offspring before and after birth were investigated and compared. In the pregnant mice, similar histologic abnormalities were found in various tissues for ACR intoxication and FPC supplementation. Drastic alterations were mainly seen in the liver, kidney, heart muscle, and epiphyseal cartilage of experimental dams. ACR and FPC increased the rate of abortion and neonatal mortality and decreased the total number, body weight, size, and crown-rump length of the offspring before and after birth. Interestingly, however, higher rates of congenital malformations were observed in the FPC-treated group. Although ossification of axial and appendicular bones was markedly retarded during fetal development, some ossified bones were missing in newly born offspring of treated groups. Furthermore, the incidence of missing ossification centers was higher in the FPC-treated than in the ACR-treated neonates. These results suggest that FPC can cause hazardous health effects and warrant a systematic study on the health effects of consumption of FPC and French fries in the general population. Copyright © 2011 Elsevier Inc. All rights reserved.

[Ejaculation inadequacy in sexual disorders].

PubMed

Schröder, K H; Krause, W

1982-01-01

Sixteen men with missing ejaculation were observed as outpatients in our department within the past years. Among these, four patients with retrograde ejaculation are included. Possible reasons for the missing ejaculation are operations in the genital region or the pelvis, and spinal cord injuries. Endocrine disorders, diabetes mellitus, drug dependence, and psychogenic alterations have to be discussed as etiologic factors. Secondary lack of ejaculation, which is acquired in later years of life, seems to have a poorer prognosis than the primary disease, which begins with puberty. This group of patients is well responsive to psychotherapy. Other therapeutic approaches are hormonal substitution, care of drug dependence, and treatment with sympathicomimetica in some cases of retrograde ejaculation.

Detection of 1p36 deletion by clinical exome-first diagnostic approach.

PubMed

Watanabe, Miki; Hayabuchi, Yasunobu; Ono, Akemi; Naruto, Takuya; Horikawa, Hideaki; Kohmoto, Tomohiro; Masuda, Kiyoshi; Nakagawa, Ryuji; Ito, Hiromichi; Kagami, Shoji; Imoto, Issei

2016-01-01

Although chromosome 1p36 deletion syndrome is considered clinically recognizable based on characteristic features, the clinical manifestations of patients during infancy are often not consistent with those observed later in life. We report a 4-month-old girl who showed multiple congenital anomalies and developmental delay, but no clinical signs of syndromic disease caused by a terminal deletion in 1p36.32-p36.33 that was first identified by targeted-exome sequencing for molecular diagnosis.

Detection of 1p36 deletion by clinical exome-first diagnostic approach

PubMed Central

Watanabe, Miki; Hayabuchi, Yasunobu; Ono, Akemi; Naruto, Takuya; Horikawa, Hideaki; Kohmoto, Tomohiro; Masuda, Kiyoshi; Nakagawa, Ryuji; Ito, Hiromichi; Kagami, Shoji; Imoto, Issei

2016-01-01

Although chromosome 1p36 deletion syndrome is considered clinically recognizable based on characteristic features, the clinical manifestations of patients during infancy are often not consistent with those observed later in life. We report a 4-month-old girl who showed multiple congenital anomalies and developmental delay, but no clinical signs of syndromic disease caused by a terminal deletion in 1p36.32-p36.33 that was first identified by targeted-exome sequencing for molecular diagnosis. PMID:28428889

Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype.

PubMed

Fernandez, Bridget A; Green, Jane S; Bursey, Ford; Barrett, Brendan; MacMillan, Andrée; McColl, Sarah; Fernandez, Sara; Rahman, Proton; Mahoney, Krista; Pereira, Sergio L; Scherer, Stephen W; Boycott, Kym M; Woods, Michael O

2012-11-21

Severe congenital neutropenia type 4 (SCN4) is an autosomal recessive disorder caused by mutations in the third subunit of the enzyme glucose-6-phosphatase (G6PC3). Its core features are congenital neutropenia and a prominent venous skin pattern, and affected individuals have variable birth defects. Oculocutaneous albinism type 4 (OCA4) is caused by autosomal recessive mutations in SLC45A2. We report a sister and brother from Newfoundland, Canada with complex phenotypes. The sister was previously reported by Cullinane et al., 2011. We performed homozygosity mapping, next generation sequencing and conventional Sanger sequencing to identify mutations that cause the phenotype in this family. We have also summarized clinical data from 49 previously reported SCN4 cases with overlapping phenotypes and interpret the medical histories of these siblings in the context of the literature. The siblings' phenotype is due in part to a homozygous mutation in G6PC3, [c.829C > T, p.Gln277X]. Their ages are 38 and 37 years respectively and they are the oldest SCN4 patients published to date. Both presented with congenital neutropenia and later developed Crohn disease. We suggest that the latter is a previously unrecognized SCN4 manifestation and that not all affected individuals have an intellectual disability. The sister also has a homozygous mutation in SLC45A2, which explains her severe oculocutaneous hypopigmentation. Her brother carried one SLC45A2 mutation and was diagnosed with "partial OCA" in childhood. This family highlights that apparently novel syndromes can in fact be caused by two known autosomal recessive disorders.

Establishing of National Birth Defects Registry in Thailand.

PubMed

Pangkanon, Suthipong; Sawasdivorn, Siraporn; Kuptanon, Chulaluck; Chotigeat, Uraiwan; Vandepitte, Warunee

2014-06-01

Deaths attributed to birth defects are a major cause of infant and under-five mortality as well as lifetime disabilities among those who survive. In Thailand, birth defects contribute to 21% of neonatal deaths. There is currently no systematic registry for congenital anomalies in Thailand. Queen Sirikit National Institute of Child Health has initiated a Thailand Birth Defects Registry to capture birth defects among newborn infants. To establish the national birth defects registry in order to determine the burden of birth defects in Thailand. The birth defects data come from four main sources: National Birth Registry Database; National Health Security Office's reimbursement database; Online Birth Defect Registry Database designed to capture new cases that were detected later; and birth defects data from 20 participated hospitals. All data are linked by unique 13-digit national identification number and International Classification of Diseases (ICD)-10 codes. This registry includes 19 common structural birth defects conditions and pilots in 20 hospitals. The registry is hospital-based, hybrid reporting system, including only live births whose information was collected up to 1 year of age. 3,696 infants out of 67,813 live births (8.28% of total live births in Thailand) were diagnosed with congenital anomalies. The prevalence rate of major anomalies was 26.12 per 1,000 live births. The five most common birth defects were congenital heart defects, limb anomalies, cleft lip/cleft palate, Down syndrome, and congenital hydrocephalus respectively. The present study established the Birth Defects Registry by collecting data from four databases in Thailand. Information obtained from this registry and surveillance is essential in the planning for effective intervention programs for birth defects. The authors suggest that this program should be integrated in the existing public health system to ensure sustainability.

The effects of iron treatment on viscosity in children with cyanotic congenital heart disease.

PubMed

Terlemez, Semiha; Tunaoğlu, Fatma Sedef; Göktaş, Tayfun; Çelik, Bülent; Erbaş, Deniz; Koçak, Ülker; Kula, Serdar; Oğuz, Ayşe Deniz

2017-01-01

This study was planned to determine the effects of iron treatment in children with cyanotic congenital heart disease. A total of 39 patients with cyanotic congenital heart disease including 20 (51%) females, 19 (49%) males and whose mean age was 9.9 ± 6.2 years, average weight was 33 ± 18.4 kg were evaluated. Patients were categorized into two groups as having iron deficiency and no iron deficiency with respect to their ferritin levels. 4 mg/kg/day iron treatment with two valences was applied to the groups with iron deficiency for 3 months. Clinical and laboratory findings of both groups were assessed at the outset and 3 months later and viscosity measurements were carried out. Iron deficiency was identified in 21 (53.8%) out of 39 patients. Average Hb and Hct values following 3-month iron treatment increased from 14.8 ± 2.4 g/dl to 16.0 ± 2.0 (P = 0.003) and from %45.8 ± 7.5 to %47.6 ± 7.2 (P = 0.052), respectively. Average viscosity value, however, was 5.6 ± 1.0 cP, it reduced to 5.5 ± 1.0 cP value by demonstrating very little reduction (P = 0.741). Nevertheless, O 2 sat value increased from 71.7 to 75% and complaints such as headache, visual blurriness, having frequent sinusitis decreased. It was observed that iron treatment increased Hb and Hct levels in patients with cyanotic congenital heart disease without raising viscosity and it ensured improvement in clinical symptoms.

Quality of life in congenital, untreated, lifetime isolated growth hormone deficiency.

PubMed

Barbosa, Jorge A R; Salvatori, Roberto; Oliveira, Carla R P; Pereira, Rossana M C; Farias, Catarine T; Britto, Allan V de O; Farias, Natália T; Blackford, Amanda; Aguiar-Oliveira, Manuel H

2009-07-01

Impaired quality of life (QoL) is commonly described as being associated with growth hormone (GH) deficiency (GHD), and beneficial effects of GH replacement therapy on QoL have been reported. However, most studies examined heterogeneous cohorts of patients GHD of varying etiologies, severities and age of onset. Most of these patients miss other pituitary hormones, whose replacement can also influence QoL. We studied the QoL of a homogeneous cohort of 20 adults with isolated GH deficiency (IGHD) due to the same mutation in the GH-releasing hormone receptor gene (IGHD, 10 men) using the Life Satisfaction Hypopituitarism Module (QLS-H), and compared them with 20 matched controls residing in the same community (CO, 10 men). Additionally, the IGHD group was evaluated after 6 months of treatment with bi-monthly depot GH, and after 12 months from its interruption. There was no difference in the total score of QoL (TSQoL) or in any of the nine categories that composes the questionnaire between IGHD and CO. Similar results were obtained when data were analyzed by sex. GH treatment only increased satisfaction with physical endurance, but did not cause an increase in the TSQoL. We conclude that in this unique population congenital, untreated, lifetime IGHD does not reduce QoL, and treatment with GH for 6 months only causes improvement in satisfaction with physical resistance.

Incarceration of Meckel's diverticulum in a left paraduodenal Treitz' hernia.

PubMed

Gerdes, Christoph; Akkermann, Oke; Krüger, Volker; Gerdes, Anna; Gerdes, Berthold

2015-08-16

Meckel's diverticula incarcerated in a hernia were first described anecdotally by Littré, a French surgeon, in 1700. Meckel, a German anatomist and surgeon, explained the pathophysiology of this disease 100 years later. In addition, a congenital paraduodenal mesocolic hernia, known as a Treitz hernia, is a rare cause of small bowel obstruction. These hernias are caused by an abnormal rotation of the primitive midgut, resulting in a right or left paraduodenal hernia. We treated a patient presenting with pain and diagnosed extraluminal air in the abdomen after a computed tomography examination. We performed a laparotomy and found a combination of these two seldomly occurring congenital diseases, incarceration and perforation of Meckel's diverticulum in a left paraduodenal hernia. We performed a thorough review of the literature, and this report is the first to describe a patient with a combination of these two rare conditions. We considered the case regarding the variety of terminology as well as the treatment options of these conditions.

Neurocutaneous melanosis in association with the Dandy-Walker complex, complicated by melanoma: report of a case and literature review.

PubMed

Mena-Cedillos, Carlos Alfredo; Valencia-Herrera, Adriana M; Arroyo-Pineda, Alma Iris; Salgado-Jiménez, M Angeles; Espinoza-Montero, Rubén; Martínez-Avalos, Armando Bernardo; Perales-Arroyo, Antonio

2002-01-01

Neurocutaneous melanosis is a rare congenital neurocutaneous syndrome in which benign and malignant melanocytic tumors of the leptomeninges with large or numerous congenital melanocytic nevi develop. The Dandy-Walker malformation occurs as a broad posterior fossa with high insertion of the tentorium, hypoplasia or aplasia of the cerebellar vermis, and cystic dilation of the fourth ventricle communicating with the posterior fossa. Association of these entities is very unusual and only 10 previous reports were found in the literature. Our patient had multiple, medium-size to small melanocytic nevi present since birth. At 5 years of age the patient has intracranial pressure secondary to hydrocephalus. A diagnosis of Dandy-Walker malformation and suspected neurocutaneous melanosis was established after a skull computed tomography (CT) scan. Three months later the patient developed a right frontal tumor shown on the CT scan. The histologic finding was nevomelanocytic infiltration with strong pleomorphism. The tumor grew rapidly, producing neurogenic shock and death. The postmortem report indicated malignant melanoma.

Nontraumatic Exertional Rhabdomyolysis Leading to Acute Kidney Injury in a Sickle Trait Positive Individual on Renal Biopsy.

PubMed

Janga, Kalyana C; Greenberg, Sheldon; Oo, Phone; Sharma, Kavita; Ahmed, Umair

2018-01-01

A 26-year-old African American male with a history of congenital cerebral palsy, sickle cell trait, and intellectual disability presented with abdominal pain that started four hours prior to the hospital visit. The patient denied fever, chills, diarrhea, or any localized trauma. The patient was at a party at his community center last evening and danced for 2 hours, physically exerting himself more than usual. Labs revealed blood urea nitrogen (BUN) level of 41 mg/dL and creatinine (Cr) of 2.8 mg/dL which later increased to 4.2 mg/dL while still in the emergency room. Urinalysis revealed hematuria with RBC > 50 on high power field. Imaging of the abdomen revealed no acute findings for abdominal pain. With fractional excretion of sodium (FeNa) > 3%, findings suggested nonoliguric acute tubular necrosis. Over the next couple of days, symptoms of dyspepsia resolved; however, BUN/Cr continued to rise to a maximum of 122/14 mg/dL. With these findings, along with stable electrolytes, urine output matching the intake, and prior use of proton pump inhibitors, medical decision was altered for the possibility of acute interstitial nephritis. Steroids were subsequently started and biopsy was taken. Biopsy revealed heavy deposits of myoglobin. Creatinine phosphokinase (CPK) levels drawn ten days later after the admission were found to be elevated at 334 U/dl, presuming the levels would have been much higher during admission. This favored a diagnosis of acute kidney injury (AKI) secondary to exertional rhabdomyolysis. We here describe a case of nontraumatic exertional rhabdomyolysis in a sickle cell trait (SCT) individual that was missed due to findings of microscopic hematuria masking underlying myoglobinuria and fractional excretion of sodium > 3%. As opposed to other causes of ATN, rhabdomyolysis often causes FeNa < 1%. The elevated fractional excretion of sodium in this patient was possibly due to the underlying inability of SCT positive individuals to reabsorb sodium/water and concentrate their urine. Additionally, because of their inability to concentrate urine, SCT positive individuals are prone to intravascular depletion leading to renal failure as seen in this patient. Disease was managed with continuing hydration and tapering steroids. Kidney function improved and the patient was discharged with a creatinine of 3 mg/dL. A month later, renal indices were completely normal with persistence of microscopic hematuria from SCT.

Hirschsprung's disease management: from multi staged operation to single staged transanal pull-through.

PubMed

Wang, J X; Dahal, G R

2009-06-01

Hirschsprung's disease (HD) is a common congenital disease of colorectum. Although it was described more than one century ago, the effective treatment was established only half a century later. The initially treatment consisted of preoperative diverting colostomy, followed by definite pull-through and closure of colostomy on later date. A variety of procedures like Swenson, Duhamel, Rehbein and Soave were evolved with time. With the better understanding of pathogenesis and improvement on surgical technique, now the operation has become less extensive. In recent days, the classical 3 staged procedure is replaced by single staged procedure. All the procedure can be completed transanally. Since De la Torre in 1998, first reported total transanal endorectal pull-through, it became the most popular technique for the treatment of HD.

Recurrent branchial sinus tract with aberrant extension.

PubMed

Barret, J P

2004-01-01

Second branchial cysts are the commonest lesions among congenital lateral neck anomalies. Good knowledge of anatomy and embryology are necessary for proper treatment. Surgical treatment involves resection of all branchial remnants, which extend laterally in the neck, medial to the sternocleidomastoid muscle with cranial extension to the pharynx and ipsilateral tonsillar fosa. However, infections and previous surgery can distort anatomy, making the approach to branchial anomalies more difficult. We present a case of a 17-year-old patient who presented with a second branchial tract anomaly with an aberrant extension to the midline and part of the contralateral neck. Previous surgical interventions and chronic infections may have been the primary cause for this aberrant tract. All head and neck surgeons should bear in mind that aberrant presentations may exist when reoperating on chronic branchial cysts fistulas.

Spin Stabilized Impulsively Controlled Missile (SSICM)

NASA Astrophysics Data System (ADS)

Crawford, J. I.; Howell, W. M.

1985-12-01

This patent is for the Spin Stabilized Impulsively Controlled Missile (SSICM). SSICM is a missile configuration which employs spin stabilization, nutational motion, and impulsive thrusting, and a body mounted passive or semiactive sensor to achieve very small miss distances against a high speed moving target. SSICM does not contain an autopilot, control surfaces, a control actuation system, nor sensor stabilization gimbals. SSICM spins at a rate sufficient to provide frequency separation between body motions and inertial target motion. Its impulsive thrusters provide near instantaneous changes in lateral velocity, whereas conventional missiles require a significant time delay to achieve lateral acceleration.

The ocular manifestations of congenital infection: a study of the early effect and long-term outcome of maternally transmitted rubella and toxoplasmosis.

PubMed Central

O'Neill, J F

1998-01-01

PURPOSE: To study the spectrum of adverse ocular effects which result from maternally transmitted rubella and toxoplasma infection; further, to record the long-term visual and neurodevelopmental outcomes of these 2 major causes of fetal infection. STUDY DESIGN AND PATIENTS: A series of 55 patients with congenital infection have been studied prospectively on a long-term basis. The study group included a cohort of 34 cases with congenital rubella syndrome demonstrated by virus isolation, and 21 cases with a clinical diagnosis of congenital toxoplasmosis and serologic confirmation. All patients had specific disease-related ocular defects. Rubella patients were first identified during or following the last major rubella epidemic in 1963-1964, and some have been followed serially since that time. A separate study group of representative toxoplasmosis patients presented for examination and diagnosis at varying time periods between 1967 and 1991. OBSERVATIONS AND RESULTS: This study confirms that a broad spectrum of fetal injury may result from intrauterine infection and that both persistent and delayed-onset effects may continue or occur as late as 30 years after original infection. Many factors contribute to the varied outcome of prenatal infection, the 2 most important being the presence of maternal immunity during early gestation and the stage of gestation during which fetal exposure occurs in a nonimmune mother. RUBELLA: As a criteria of inclusion, all 34 rubella patients in this study exhibited one or more ocular defects at the time of birth or in the immediate neonatal period. Cataracts were present in 29 (85%) of the 34, of which 21 (63%) were bilateral. Microphthalmia, the next most frequent defect, was present in 28 (82%) of the 34 infants and was bilateral in 22 (65%). Glaucoma was recorded in 11 cases (29%) and presented either as a transient occurrence with early cloudy cornea in microphthalmic eyes (4 patients), as the infantile type with progressive buphthalmos (1 patient), or as a later-onset, aphakic glaucoma many months or years following cataract aspiration in 11 eyes of 6 patients. Rubella retinopathy was present in the majority of patients, although an accurate estimate of its incidence or laterality was not possible because of the frequency of cataracts and nystagmus and the difficulty in obtaining adequate fundus examination. TOXOPLASMOSIS: Twenty-one patients with congenital toxoplasmosis have been examined and followed for varying time periods, 7 for 20 years or more. The major reason for initial examination was parental awareness of an ocular deviation. Twelve children (57%) presented between the ages of 3 months and 4 years with an initial diagnosis of strabismus, 9 of whom had minor complaints or were diagnosed as part of routine examinations. All cases in this study have had evidence of retinochoroiditis, the primary ocular pathology of congenital toxoplasmosis. Two patients had chronic and recurrent inflammation with progressive vitreal traction bands, retinal detachments, and bilateral blindness. Macular lesions were always associated with central vision loss; however, over a period of years visual acuity gradually improved in several patients. Individuals with more severe ocular involvement were also afflicted with the most extensive central nervous system deficits, which occurred following exposure during the earliest weeks of gestation. CONCLUSIONS: Although congenital infection due to rubella virus has been almost completely eradicated in the United States, the long-term survivors from the prevaccination period continue to experience major complications from their early ocular and cerebral defects. They may be afflicted by the persistence of virus in their affected organs and the development of late manifestations of their congenital infection. Congenital toxoplasmosis continues to be the source of major defects for 3,000 to 4,100 infants in the United States each year; the spectrum of defects is wide and may vary from blindness and severe mental retardation to minor retinochoroidal lesions of little consequence. Effective solutions for either the prevention or treatment of congenital toxoplasmosis have not been developed in this country but are under intensive and continuing investigation. Images FIGURE 4 FIGURE 5A FIGURE 5B FIGURE 5C FIGURE 6 FIGURE 7 FIGURE 8 FIGURE 9 FIGURE 10 FIGURE 11 FIGURE 12 FIGURE 13 FIGURE 14 FIGURE 15A FIGURE 15B FIGURE 16 FIGURE 17 FIGURE 18 FIGURE 19 FIGURE 20A FIGURE 20B FIGURE 20C FIGURE 20D FIGURE 20E FIGURE 20F FIGURE 20G FIGURE 20H FIGURE 20J FIGURE 20K FIGURE 21 FIGURE 22 FIGURE 23 FIGURE 24 A FIGURE 24B FIGURE 25 FIGURE 26 FIGURE 27 FIGURE 28 FIGURE 29 FIGURE 30 FIGURE 31 FIGURE 32 PMID:10360309

Identifying congenital hearing impairment. Personal experience based on selective hearing screening.

PubMed

Molini, E; Ricci, G; Baroni, S; Ciorba, A; Bellocci, A; Simoncelli, C

2004-06-01

If all degrees of permanent uni- or bilateral hypoacusis are taken into consideration, hearing impairment is the most common congenital disease. Early detection of permanent infantile hearing impairment has become extremely important in preventive medicine, since steps can be taken with hearing aids and rehabilitation to ensure better development of language and higher cognitive functions. Aim of this study is to provide a critical review of the time of diagnosis of hypoacusis at our audiology laboratory, where two methods were used to screen hearing of children with/without risk indicators. Results of approximately 10 years' work were re-examined during which time outpatient screening was conducted on children referred by colleagues in neonatology and paediatrics. All were carriers of congenital risk indicators associated with sensorineural and/or conductive hearing loss, based on the Joint Committee on Infant Hearing findings, or were suspected of being hypoacusic even if they had no known congenital risk factors. Hearing screening was conducted in hospital on newborns with no risk factors, within the first few days of birth. Results of the present study showed that when selective hearing screening was performed, the mean age of high-risk patients diagnosed with hypoacusis was slightly higher than that in international guidelines. Moreover, these patients represent approximately half the hypoacusic population identified in the study period. The other half of congenital hypoacusic subjects identified had no risk indicators and there was a significant delay in diagnosis due to later manifestation of symptoms indicating hypoacusis, and thus, in turn, delayed referral for hearing tests. In contrast, subjects without risk indicators who underwent in-hospital hearing screening and proved to be hypoacusic, were diagnosed early. In our experience, however, universal screening has considerable disadvantages, such as difficulty in covering the entire population, difficulty in follow-up after discharge from hospital, and last, but by no means least, significant organisational and professional commitments, making it impossible to perform in all hospitals. In order to ensure effective hearing screening for congenital hearing loss and, thus permit prompt identification of hypoacusic children, use of hearing aids and rehabilitation screening should incorporate two aspects. First, selection should be compulsory, thereby reducing waiting time between collecting case histories and performing outpatient tests; second, hospital screening of children without risk factors should be performed whenever possible. Integrating these two aspects would make it possible to approach the "utopia" of universal hearing screening.

The amusic brain: in tune, out of key, and unaware.

PubMed

Peretz, Isabelle; Brattico, Elvira; Järvenpää, Miika; Tervaniemi, Mari

2009-05-01

Like language, music engagement is universal, complex and present early in life. However, approximately 4% of the general population experiences a lifelong deficit in music perception that cannot be explained by hearing loss, brain damage, intellectual deficiencies or lack of exposure. This musical disorder, commonly known as tone-deafness and now termed congenital amusia, affects mostly the melodic pitch dimension. Congenital amusia is hereditary and is associated with abnormal grey and white matter in the auditory cortex and the inferior frontal cortex. In order to relate these anatomical anomalies to the behavioural expression of the disorder, we measured the electrical brain activity of amusic subjects and matched controls while they monitored melodies for the presence of pitch anomalies. Contrary to current reports, we show that the amusic brain can track quarter-tone pitch differences, exhibiting an early right-lateralized negative brain response. This suggests near-normal neural processing of musical pitch incongruities in congenital amusia. It is important because it reveals that the amusic brain is equipped with the essential neural circuitry to perceive fine-grained pitch differences. What distinguishes the amusic from the normal brain is the limited awareness of this ability and the lack of responsiveness to the semitone changes that violate musical keys. These findings suggest that, in the amusic brain, the neural pitch representation cannot make contact with musical pitch knowledge along the auditory-frontal neural pathway.

Clinical and radiologic manifestations of congenital extrahepatic portosystemic shunts: a comprehensive review.

PubMed

Alonso-Gamarra, Eduardo; Parrón, Manuel; Pérez, Ana; Prieto, Consuelo; Hierro, Loreto; López-Santamaría, Manuel

2011-01-01

Congenital extrahepatic portosystemic shunt (CEPS) is a rare condition in which the portomesenteric blood drains into a systemic vein, bypassing the liver through a complete or partial shunt. Most often, the diagnosis is made primarily with Doppler ultrasonography. Computed tomographic angiography and magnetic resonance angiography are used for further classification of the shunt and assessment of accompanying anomalies. Conventional angiography is necessary when results of the other tests disagree or are inconclusive. CEPS is classified into two types according to the pattern of anastomoses between the portal vein and systemic vein. In type 1, intrahepatic portal venous supply is absent; in type 2, intrahepatic portal venous supply is preserved. Type 1 usually occurs in girls with associated malformations, such as situs ambiguous with polysplenia and congenital heart defects. Associated anomalies are less frequent in type 2, and symptoms usually develop later without a gender preference. Hepatic encephalopathy and liver dysfunction are possible complications of both types and usually develop during adulthood. Both types are also associated with regenerative hepatic nodules. The clinical setting and imaging appearance of these nodules can help one avoid misdiagnosis. Definitive treatment of CEPS is determined by the type of shunt. Liver transplantation is the only effective treatment for symptomatic type 1 CEPS; surgical closure or embolization of the shunt is the therapeutic approach for type 2. Copyright © RSNA, 2011.

[Missed diagnosis of hiding posterior marginal fracture of ankle with pronation-external rotation type and its treatment].

PubMed

Wang, Jia; Zhang, Yun-Tong; Zhang, Chun-Cai; Tang, Yang

2014-01-01

To analyze causes of missed diagnosis of hiding post-malleolar fractures in treating ankle joint fractures of pronation-external rotation type according to Lauge-Hansen classification and assess its medium-term outcomes. Among 103 patients with ankle joint fracture of pronation-external rotation type treated from March 2002 to June 2010,9 patients were missed diagnosis,including 6 males and 3 females,with a mean age of 35.2 years old (ranged, 18 to 55 years old) . Four patients were diagnosed during operation, 2 patients were diagnosed 2 or 3 days after first surgery and 3 patients came from other hospital. All the patients were treated remedially with lag screws and lock plates internal fixation. After operation,ankle joint function was evaluated according to American Orthopaedic Foot and Ankle Society (AOFAS). All the 9 patients were followed up, and the duration ranged from 14 to 30 months (averaged, 17 months). No incision infection was found, and all incision healed at the first stage. At the latest follow-up, AOFAS was 83.0 +/- 4.4, the score of 4 patients diagnosed during operation was 85.0 +/- 2.9, and the score of 5 patients treated by secondary operation was 81.0 +/- 5.3. All the patients got fracture union observed by X-ray at a mean time of 2.2 months after operation. There were no complications such as internal fixation loosing, broken and vascular or nerve injuries. Ankle joint fracture of pronation-external rotation type may be combined with hiding post-malleolar fractures. So to patients with ankle joint fracture of pronation-external rotation type, lateral X-ray should be read carefully, and if necessary, CT or MRI examination should be performed. If adding lateral X-ray examination after reduction of exterior and interior ankle joint fixation, the missed diagnosis may be avoided.

The Use of Lecture Capture and Student Performance in Physiology

ERIC Educational Resources Information Center

Hadgu, Rim Mekonnen; Huynh, Sophia; Gopalan, Chaya

2016-01-01

Lecture capture technology is fairly new and has gained interest among higher institutions, faculty and students alike. Live-lecture (LL) is captured in real-time and this recording, LC, is made available for students to access for later use, whether it be for review purpose or to replace a missed class. Student performance was compared between…

Hip arthroscopy using the lateral approach.

PubMed

Glick, J M

1988-01-01

The benefits of hip arthroscopy are apparent. It produces little postoperative morbidity and can be performed on an outpatient basis. The prompt recovery from the operation is also beneficial, particularly for elderly patients. Distraction of the hip by traction on a fracture table is necessary. Suggested indications for this procedure include synovectomy and synovial biopsy; removal of loose bodies; removal of debris after a closed reduction of a fracture-dislocation; evaluation and treatment of osteochondritis dissecans; evaluation for arthroplasty; and unresolved hip pain. Whether the lateral approach is useful in the following situations is yet to be explored: (1) Evaluation of pediatric conditions such as Legg-Perthes disease and congenital dislocated hip; (2) treatment of localized infection; (3) removal of entrapped methylmethacrylate in total hip replacement; and (4) reducing and fixating an acetabular fracture (M. Brennan, oral communication, April 6, 1987). Arthroscopy of the hip joint by the lateral approach is a valuable addition to the evaluation and treatment of hip disorders.

Rare and Common Variants Conferring Risk of Tooth Agenesis.

PubMed

Jonsson, L; Magnusson, T E; Thordarson, A; Jonsson, T; Geller, F; Feenstra, B; Melbye, M; Nohr, E A; Vucic, S; Dhamo, B; Rivadeneira, F; Ongkosuwito, E M; Wolvius, E B; Leslie, E J; Marazita, M L; Howe, B J; Moreno Uribe, L M; Alonso, I; Santos, M; Pinho, T; Jonsson, R; Audolfsson, G; Gudmundsson, L; Nawaz, M S; Olafsson, S; Gustafsson, O; Ingason, A; Unnsteinsdottir, U; Bjornsdottir, G; Walters, G B; Zervas, M; Oddsson, A; Gudbjartsson, D F; Steinberg, S; Stefansson, H; Stefansson, K

2018-05-01

We present association results from a large genome-wide association study of tooth agenesis (TA) as well as selective TA, including 1,944 subjects with congenitally missing teeth, excluding third molars, and 338,554 controls, all of European ancestry. We also tested the association of previously identified risk variants, for timing of tooth eruption and orofacial clefts, with TA. We report associations between TA and 9 novel risk variants. Five of these variants associate with selective TA, including a variant conferring risk of orofacial clefts. These results contribute to a deeper understanding of the genetic architecture of tooth development and disease. The few variants previously associated with TA were uncovered through candidate gene studies guided by mouse knockouts. Knowing the etiology and clinical features of TA is important for planning oral rehabilitation that often involves an interdisciplinary approach.

[Neonatal hyperthyroidism: a case report and literature review].

PubMed

Li, Ning; Li, Xiao-Hua; Yao, Ying-Min

2013-10-01

We report a case of neonatal thyrotoxicosis with concurrent respiratory failure in an infant born to a mother with Graves' disease and review the published literature describing neonatal hyperthyroidism. The male infant who was born by spontaneous delivery at 35 weeks of gestational age presented with fever, tachycardia and tachypnea at rest on day 11 after birth, and developed severe apnea on day 14. Thyroid function studies revealed hyperthyroidism in the infant, and his mother was confirmed to have Grave's disease during pregnancy. Literature review showed that among the 33 infants with similar conditions, tachycardia, tachypnea and poor weight gain were the most distinct clinical features of congenital hyperthyroidism. Accurate diagnosis of Graves' disease in the mother during pregnancy and awareness of the clinical presentations of neonatal hyperthyroidism are key to reducing missed diagnosis or misdiagnosis of neonatal hyperthyroidism.

An unanswered question in pediatric urology: the post pubertal persistence of prepubertal congenital penile curvature correction by tunical plication

PubMed Central

Ozkuvanci, Ünsal; Ziylan, Orhan; Dönmez, M. Irfan; Yucel, Omer Baris; Oktar, Tayfun; Ander, Haluk; Nane, Ismet

2017-01-01

ABSTRACT Objective: The aim of this study is to analyze post pubertal results of pre pubertal tunica albuginea plication with non-absorbable sutures in the correction of CPC. Materials and Methods: The files of patients who underwent tunica albuginea plication without incision (dorsal/lateral) were retrospectively reviewed. Patients younger than 13 years of age at the time of operation and older than 14 years of age in November 2015 were included. Patients with a penile curvature of less than 30 degrees & more than 45 degrees and penile/urethral anomalies were excluded. All of the patients underwent surgery followed by circumcision. Results: The mean age of patients at the time of the operation was 9.7 years (range, 6-13 years). The mean degree of ventral penile curvature measured during the operation was 39 degrees while it was 41 degrees in the lateral curvatures. All of the patients were curvature-free at the end of the operation. At the time of the follow-up examination, the mean age was 16.7 years (range, 14-25 years). Six patients had a straight (0-10 degrees) penis during erection and seven patients had recurrent penile curvatures ranging from 30 to 50 degrees. Conclusion: Pre pubertal tunica albuginea plication of congenital penile curvature (30-45 degrees) with non-absorbable sutures performed without incision is a minimal invasive method especially when performed during circumcision. However, recurrence might be observed in half of the patients after puberty. PMID:28727375

An unanswered question in pediatric urology: the post pubertal persistence of prepubertal congenital penile curvature correction by tunical plication.

PubMed

Ozkuvanci, Ünsal; Ziylan, Orhan; Dönmez, M Irfan; Yucel, Omer Baris; Oktar, Tayfun; Ander, Haluk; Nane, Ismet

2017-01-01

The aim of this study is to analyze post pubertal results of pre pubertal tunica albuginea plication with non-absorbable sutures in the correction of CPC. The files of patients who underwent tunica albuginea plication without incision (dorsal/lateral) were retrospectively reviewed. Patients younger than 13 years of age at the time of operation and older than 14 years of age in November 2015 were included. Patients with a penile curvature of less than 30 degrees & more than 45 degrees and penile/urethral anomalies were excluded. All of the patients underwent surgery followed by circumcision. The mean age of patients at the time of the operation was 9.7 years (range, 6-13 years). The mean degree of ventral penile curvature measured during the operation was 39 degrees while it was 41 degrees in the lateral curvatures. All of the patients were curvature-free at the end of the operation. At the time of the follow-up examination, the mean age was 16.7 years (range, 14-25 years). Six patients had a straight (0-10 degrees) penis during erection and seven patients had recurrent penile curvatures ranging from 30 to 50 degrees. Pre pubertal tunica albuginea plication of congenital penile curvature (30-45 degrees) with non-absorbable sutures performed without incision is a minimal invasive method especially when performed during circumcision. However, recurrence might be observed in half of the patients after puberty. Copyright® by the International Brazilian Journal of Urology.

Surgical technique of double switch procedure: Senning with arterial switch operation for congenitally corrected transposition of the great arteries with ventricular septal defect.

PubMed

Ilin, Alexey S; Teplov, Pavel V; Sakovich, Valeriy A; Ohye, Richard G

2016-01-01

We present a case of 12-month-old boy with congenitally corrected transposition of great arteries with L-looped ventricles and L-transposition of great arteries and ventricular septal defect. When admitted to the hospital, the patient had the appearance of congestive heart failure due to moderate to severe tricuspid valve regurgitation and right ventricle dysfunction. The pulmonary artery (PA) banding was required first because of low systolic pressure in the morphological left ventricle less than 70% confirmed by catheterization. Three months later, the patient appeared to be a good candidate for anatomical repair and a double switch procedure-Senning with arterial switch-was performed. The early postoperative period was relatively smooth and uneventful. Tricuspid valve insufficiency was resolved immediately after surgery. Mild systolic dysfunction of the left ventricle with mild mitral insufficiency was confirmed by the 2D strain method of echocardiography on the second day of the postoperative period and it improved over the next 21 days. Thirty days later after the procedure, the patient underwent catheterization of his superior vena cava tunnel because of the slightly increased blood flow velocity diagnosed by echocardiography. In 3 months after the surgery, the boy was asymptomatic and was doing well. The patient's functional status was I according to the NYHA classification. © The Author 2016. Published by Oxford University Press on behalf of the European Association for Cardio-Thoracic Surgery. All rights reserved.

Language networks in anophthalmia: maintained hierarchy of processing in 'visual' cortex.

PubMed

Watkins, Kate E; Cowey, Alan; Alexander, Iona; Filippini, Nicola; Kennedy, James M; Smith, Stephen M; Ragge, Nicola; Bridge, Holly

2012-05-01

Imaging studies in blind subjects have consistently shown that sensory and cognitive tasks evoke activity in the occipital cortex, which is normally visual. The precise areas involved and degree of activation are dependent upon the cause and age of onset of blindness. Here, we investigated the cortical language network at rest and during an auditory covert naming task in five bilaterally anophthalmic subjects, who have never received visual input. When listening to auditory definitions and covertly retrieving words, these subjects activated lateral occipital cortex bilaterally in addition to the language areas activated in sighted controls. This activity was significantly greater than that present in a control condition of listening to reversed speech. The lateral occipital cortex was also recruited into a left-lateralized resting-state network that usually comprises anterior and posterior language areas. Levels of activation to the auditory naming and reversed speech conditions did not differ in the calcarine (striate) cortex. This primary 'visual' cortex was not recruited to the left-lateralized resting-state network and showed high interhemispheric correlation of activity at rest, as is typically seen in unimodal cortical areas. In contrast, the interhemispheric correlation of resting activity in extrastriate areas was reduced in anophthalmia to the level of cortical areas that are heteromodal, such as the inferior frontal gyrus. Previous imaging studies in the congenitally blind show that primary visual cortex is activated in higher-order tasks, such as language and memory to a greater extent than during more basic sensory processing, resulting in a reversal of the normal hierarchy of functional organization across 'visual' areas. Our data do not support such a pattern of organization in anophthalmia. Instead, the patterns of activity during task and the functional connectivity at rest are consistent with the known hierarchy of processing in these areas normally seen for vision. The differences in cortical organization between bilateral anophthalmia and other forms of congenital blindness are considered to be due to the total absence of stimulation in 'visual' cortex by light or retinal activity in the former condition, and suggests development of subcortical auditory input to the geniculo-striate pathway.

Variation in Outcomes for Risk-Stratified Pediatric Cardiac Surgical Operations: An Analysis of the STS Congenital Heart Surgery Database

PubMed Central

Jacobs, Jeffrey Phillip; O'Brien, Sean M.; Pasquali, Sara K.; Jacobs, Marshall Lewis; Lacour-Gayet, François G.; Tchervenkov, Christo I.; Austin III, Erle H.; Pizarro, Christian; Pourmoghadam, Kamal K.; Scholl, Frank G.; Welke, Karl F.; Gaynor, J. William; Clarke, David R.; Mayer, John E.; Mavroudis, Constantine

2013-01-01

Background. We evaluated outcomes for groups of risk-stratified operations in The Society of Thoracic Surgeons Congenital Heart Surgery Database to provide contemporary benchmarks and examine variation between centers. Methods. Patients undergoing surgery from 2005 to 2009 were included. Centers with more than 10% missing data were excluded. Discharge mortality and postoperative length of stay (PLOS) among patients discharged alive were calculated for groups of risk-stratified operations using the five Society of Thoracic Surgeons-European Association for Cardio-Thoracic Surgery Congenital Heart Surgery mortality categories (STAT Mortality Categories). Power for analyzing between-center differences in outcome was determined for each STAT Mortality Category. Variation was evaluated using funnel plots and Bayesian hierarchical modeling. Results. In this analysis of risk-stratified operations, 58,506 index operations at 73 centers were included. Overall discharge mortality (interquartile range among programs with more than 10 cases) was as follows: STAT Category 1 = 0.55% (0% to 1.0%), STAT Category 2 = 1.7% (1.0% to 2.2%), STAT Category 3 = 2.6% (1.1% to 4.4%), STAT Category 4 = 8.0% (6.3% to 11.1%), and STAT Category 5 = 18.4% (13.9% to 27.9%). Funnel plots with 95% prediction limits revealed the number of centers characterized as outliers by STAT Mortality Categories was as follows: Category 1 = 3 (4.1%), Category 2 = 1 (1.4%), Category 3 = 7 (9.7%), Category 4 = 13 (17.8%), and Category 5 = 13 (18.6%). Between-center variation in PLOS was analyzed for all STAT Categories and was greatest for STAT Category 5 operations. Conclusions. This analysis documents contemporary benchmarks for risk-stratified pediatric cardiac surgical operations grouped by STAT Mortality Categories and the range of outcomes among centers. Variation was greatest for the more complex operations. These data may aid in the design and planning of quality assessment and quality improvement initiatives. PMID:22704799

Variation in outcomes for risk-stratified pediatric cardiac surgical operations: an analysis of the STS Congenital Heart Surgery Database.

PubMed

Jacobs, Jeffrey Phillip; O'Brien, Sean M; Pasquali, Sara K; Jacobs, Marshall Lewis; Lacour-Gayet, François G; Tchervenkov, Christo I; Austin, Erle H; Pizarro, Christian; Pourmoghadam, Kamal K; Scholl, Frank G; Welke, Karl F; Gaynor, J William; Clarke, David R; Mayer, John E; Mavroudis, Constantine

2012-08-01

We evaluated outcomes for groups of risk-stratified operations in The Society of Thoracic Surgeons Congenital Heart Surgery Database to provide contemporary benchmarks and examine variation between centers. Patients undergoing surgery from 2005 to 2009 were included. Centers with more than 10% missing data were excluded. Discharge mortality and postoperative length of stay (PLOS) among patients discharged alive were calculated for groups of risk-stratified operations using the five Society of Thoracic Surgeons-European Association for Cardio-Thoracic Surgery Congenital Heart Surgery mortality categories (STAT Mortality Categories). Power for analyzing between-center differences in outcome was determined for each STAT Mortality Category. Variation was evaluated using funnel plots and Bayesian hierarchical modeling. In this analysis of risk-stratified operations, 58,506 index operations at 73 centers were included. Overall discharge mortality (interquartile range among programs with more than 10 cases) was as follows: STAT Category 1=0.55% (0% to 1.0%), STAT Category 2=1.7% (1.0% to 2.2%), STAT Category 3=2.6% (1.1% to 4.4%), STAT Category 4=8.0% (6.3% to 11.1%), and STAT Category 5=18.4% (13.9% to 27.9%). Funnel plots with 95% prediction limits revealed the number of centers characterized as outliers by STAT Mortality Categories was as follows: Category 1=3 (4.1%), Category 2=1 (1.4%), Category 3=7 (9.7%), Category 4=13 (17.8%), and Category 5=13 (18.6%). Between-center variation in PLOS was analyzed for all STAT Categories and was greatest for STAT Category 5 operations. This analysis documents contemporary benchmarks for risk-stratified pediatric cardiac surgical operations grouped by STAT Mortality Categories and the range of outcomes among centers. Variation was greatest for the more complex operations. These data may aid in the design and planning of quality assessment and quality improvement initiatives. Copyright © 2012 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

Brain Morphometry on Congenital Hand Deformities based on Teichmüller Space Theory.

PubMed

Peng, Hao; Wang, Xu; Duan, Ye; Frey, Scott H; Gu, Xianfeng

2015-01-01

Congenital Hand Deformities (CHD) are usually occurred between fourth and eighth week after the embryo is formed. Failure of the transformation from arm bud cells to upper limb can lead to an abnormal appearing/functioning upper extremity which is presented at birth. Some causes are linked to genetics while others are affected by the environment, and the rest have remained unknown. CHD patients develop prehension through the use of their hands, which affect the brain as time passes. In recent years, CHD have gain increasing attention and researches have been conducted on CHD, both surgically and psychologically. However, the impacts of CHD on brain structure are not well-understood so far. Here, we propose a novel approach to apply Teichmüller space theory and conformal welding method to study brain morphometry in CHD patients. Conformal welding signature reflects the geometric relations among different functional areas on the cortex surface, which is intrinsic to the Riemannian metric, invariant under conformal deformation, and encodes complete information of the functional area boundaries. The computational algorithm is based on discrete surface Ricci flow, which has theoretic guarantees for the existence and uniqueness of the solutions. In practice, discrete Ricci flow is equivalent to a convex optimization problem, therefore has high numerically stability. In this paper, we compute the signatures of contours on general 3D surfaces with surface Ricci flow method, which encodes both global and local surface contour information. Then we evaluated the signatures of pre-central and post-central gyrus on healthy control and CHD subjects for analyzing brain cortical morphometry. Preliminary experimental results from 3D MRI data of CHD/control data demonstrate the effectiveness of our method. The statistical comparison between left and right brain gives us a better understanding on brain morphometry of subjects with Congenital Hand Deformities, in particular, missing the distal part of the upper limb.

Space closing versus space opening for bilateral missing upper laterals - aesthetic judgments of laypeople: a web-based survey.

PubMed

Qadri, Salim; Parkin, Nicola A; Benson, Philip E

2016-06-01

To investigate the opinions of laypeople regarding the aesthetic outcome of treating patients with developmental absence of both maxillary lateral incisors using either orthodontic space closure (OSC) or space opening and prosthetic replacement (PR). Cross sectional, web-based survey. A panel of five orthodontists and five restorative dentists examined post-treatment intra-oral images of 21 patients with developmental absence of both upper lateral incisors. A consensus view was obtained about the 10 most attractive images (5 OSC; 5 PR). The 10 selected images were used in a web-based survey involving staff and students at the University of Sheffield. In the first section, the participants were asked to evaluate the attractiveness of the 10 randomly arranged single images using a 5-point Likert scale. In the second section, an image of OSC was paired with an image of PR according to their attractiveness ranking by the clinician panel, and the participants were asked to indicate which of the two images they preferred. The survey received 959 completed responses with 9590 judgements. The images of OSC were perceived to be more attractive (mean rating 3·34 out of 5; SD 0·56) compared with the images of PR (mean rating 3·14 out of 5; SD 0·58) (mean diff 0·21; P < 0·001). Female and staff judges tended to give higher attractiveness ratings. Both females and males preferred the OSC images closing in 3 out of 4 paired images. Space closing was perceived to be more attractive than space opening by lay people. The findings have implications for advising patients about the best aesthetic outcome when both maxillary lateral incisors are missing.

Everything You Always Wanted to Know about Judgment, but Were Afraid to Ask!

ERIC Educational Resources Information Center

Priest, Simon

1990-01-01

Outdoor leaders with sound judgment can gather many specific experiences, induce them into a collection of general concepts, store these as memory maps in the mind, later recall the general concepts as needed, and deduce a specific prediction from them. Proposes that evaluative reflection after a judgment is made is the component missing from most…

49 CFR 213.110 - Gage restraint measurement systems.

Code of Federal Regulations, 2014 CFR

2014-10-01

... applied force from 0 to 4,000 pounds; and (ii) The gage of the track under 4,000 pounds of applied force... requirements specified in §§ 213.109 and 213.127. (5) If the PTLF becomes non-functional or is missing, the... vertical loading of the track is necessary for contact with the lateral rail restraint components, a PTLF...

49 CFR 213.110 - Gage restraint measurement systems.

Code of Federal Regulations, 2012 CFR

2012-10-01

... applied force from 0 to 4,000 pounds; and (ii) The gage of the track under 4,000 pounds of applied force... requirements specified in §§ 213.109 and 213.127. (5) If the PTLF becomes non-functional or is missing, the... vertical loading of the track is necessary for contact with the lateral rail restraint components, a PTLF...

49 CFR 213.110 - Gage restraint measurement systems.

Code of Federal Regulations, 2013 CFR

2013-10-01

... applied force from 0 to 4,000 pounds; and (ii) The gage of the track under 4,000 pounds of applied force... requirements specified in §§ 213.109 and 213.127. (5) If the PTLF becomes non-functional or is missing, the... vertical loading of the track is necessary for contact with the lateral rail restraint components, a PTLF...

A prospective randomized controlled trial of the two-window technique without membrane versus the solo-window technique with membrane over the osteotomy window for maxillary sinus augmentation.

PubMed

Yu, Huajie; He, Danqing; Qiu, Lixin

2017-12-01

Maturation of the grafted volume after lateral sinus elevation is crucial for the long-term survival of dental implants. To compare endo-sinus histomorphometric bone formation between the solo- and two-window maxillary sinus augmentation techniques with or without membrane coverage for the rehabilitation of multiple missing posterior teeth. Patients with severely atrophic posterior maxillae were randomized to receive lateral sinus floor elevation via the solo-window technique with membrane coverage (Control Group) or the two-window technique without coverage (Test Group). Six months after surgery, bone core specimens harvested from the lateral aspect were histomorphometrically analyzed. Ten patients in each group underwent 21 maxillary sinus augmentations. Histomorphometric analysis revealed mean newly formed bone values of 26.08 ± 16.23% and 27.14 ± 18.11%, mean connective tissue values of 59.34 ± 12.42% and 50.03 ± 17.13%, and mean residual graft material values of 14.6 ± 14.56% and 22.78 ± 10.83% in the Test and Control Groups, respectively, with no significant differences. The two-window technique obtained comparative maturation of the grafted volume even without membrane coverage, and is a viable alternative for the rehabilitation of severely atrophic posterior maxillae with multiple missing posterior teeth. © 2017 Wiley Periodicals, Inc.

Implementation of Incident Learning in the Safety and Quality Management of Radiotherapy: The Primary Experience in a New Established Program with Advanced Technology

PubMed Central

Yang, Ruijie; Wang, Junjie; Zhang, Xile; Sun, Haitao; Gao, Yang; Liu, Lu; Lin, Lei

2014-01-01

Objective. To explore the implementation of incident learning for quality management of radiotherapy in a new established radiotherapy program. Materials and Methods. With reference to the consensus recommendations by American Association of Physicist in Medicine, an incident learning system was specifically established for reporting, investigating, and learning of individual incidents. The incidents that occurred in external beam radiotherapy from February, 2012, to February, 2014, were reported. Results. A total of 28 near misses and 5 incidents were reported. Among them, 5 originated in imaging for planning, 25 in planning, and 1 in plan transfer, commissioning, and delivery, respectively. One near miss/incident was classified as wrong patient, 7 wrong sites, 6 wrong laterality, and 5 wrong dose. Five reported incidents were all classified as grade 1/2 of dosimetric severity, 1 as grade 0, and the other 4 as grade 1 of medical severity. For the causes/contributory factors, negligence, policy not followed, and inadequate training contributed to 19, 15, and 12 near misses/incidents, respectively. The average incident rate per 100 patients treated was 0.4. Conclusion. Effective implementation of incident learning can reduce the occurrence of near misses/incidents and enhance the culture of safety. PMID:25140309

[Use of copper oxide wire particles (Copinox) for the prevention of congenital copper deficiency in a herd of German Improved Fawn breed of goat].

PubMed

Winter, P; Hochsteiner, W; Chizzola, R

2004-10-01

In a herd of German Improved Fawn breed of goat in the year 2000 neonatal kid losses due to congenital copper deficiencies were observed. To clarify the problems and to prevent losses in the next breeding season serum copper levels of 10 dams and four control Boer goats were investigated at four time points during one year. Additionally ten kids of the following year were sampled and the serum copper levels were studied. Immediatly after parturition and 8 weeks later the dams showed low serum copper levels (10.4 +/- 11.1 micromol/l, 5.7 +/- 2.9 micromol/l resp.). At the end of the pasture season an increase of serum copper could be measured (19.3 +/- 16.0 micromol/l). To prevent enzootic ataxia due to congenital copper deficiency, the dams were treated with copper oxide wire particles in the next late gestation. At this time point serum copper concentrations started to decrease (18.5 +/- 8.4 micromol/l). The re-examination 3 month later demonstrated an increase of the serum mean copper concentrations up to 23.4 micromol/l in the dams and to 16.2 micromol/l in the kids. The serum copper levels were significantly higher compared to the levels the year before. Big variation of the serum copper levels in the control Boer goats occurred during the year, but no clinical symptoms of copper deficiency could be observed. The copper levels in the grass and soil samples were 6.8 mg/kg and 0.2 mg/kg dry substance, respectively. A secondary copper deficiency based on cadmium could be excluded through the low levels of soil samples. The contents of sulphur and molybdenum were not determined. The results indicate that the German Improved Fawn breed of goats suffered from a primary copper deficiency due to the inefficient mineral supplementation. The administration of Copinox in the last third of the gestation leads to a continious raising of the copper concentrations in the serum and is suited to prevent ataxia due to congential copper deficiency in neonatal kids.

Unusual Association Between Spontaneous Lateral Sphenoid Encephalocele and Chiari Malformation Type I: Endoscopic Repair Through a Transpterygoid Approach.

PubMed

Starnoni, Daniele; Daniel, Roy Thomas; George, Mercy; Messerer, Mahmoud

2017-01-01

Spontaneous meningoencephaloceles of the lateral sphenoid sinus are rare entities, and their peculiar location represents a surgical challenge due to the importance of a wide exposure and skull base reconstruction. They are thought to arise from the congenital base defect of the lateral sphenoid or in some cases have been postulated to represent a rare manifestation of altered cerebrospinal fluid (CSF) dynamics. We report the first case in the literature of a Chiari malformation type I (CMI) and a lateral sphenoid encephalocele, revising the theoretic etiology and surgical technique of endoscopic repair. A 50-year-old woman with a surgical history of symptomatic CMI presented with episodes of spontaneous CSF rhinorrhea. Radiologic investigations revealed a left mesial temporal encephalocele herniating into the lateral recess of the sphenoid sinus and radiologic features of altered CSF dynamics, which may have played an etiologic role. An endoscopic transpterygoid excision of the encephalocele and multilayer skull base repair were performed. The association of spontaneous lateral sphenoid encephaloceles with CMI is distinctly unusual. Predisposing factors and disruption of CSF dynamics may play a major role in the development of these rare complications in patients with CMI. Because of their distinct location, transethmoid or transpterygoid endoscopic approaches represent an excellent surgical technique to treat these lesions thanks to their wide and direct visualization of the entire skull base defect following the encephalocele excision, allowing an adequate multilayer repair and lateral sphenoid recess occlusion. Copyright © 2016 Elsevier Inc. All rights reserved.

Congenital pseudarthrosis of the clavicle causing thoracic outlet syndrome

PubMed Central

Watson, Hannah Isabella; Hopper, Graeme Philip; Kovacs, Peter

2013-01-01

A 7-year-old girl presented with an asymptomatic right supraclavicular swelling. Radiographs were interpreted as showing a non-union of her clavicle. No treatment was given at this time. However, she represented 12 years later with right upper limb pain and altered sensation. Examination revealed a positive Allen's test on the right. Repeat radiographs demonstrated a pseudarthrosis of the clavicle, associated with a secondary complication of thoracic outlet syndrome with vascular and neurological complications present. Non-operative management failed to relieve her symptoms. Operative intervention successfully treated her symptoms. PMID:23975919

Obeservations on association between third molar agenesis and craniofacial morphology.

PubMed

Huang, Yi; Yan, Yinqiu; Cao, Jing; Xie, Bingjie; Xiao, Xueling; Luo, Mengqi; Bai, Ding; Han, Xianglong

2017-11-01

This study was designed to examine the relationship between third molar agenesis and skeletal morphology in the Chinese population. A total of 1043 patients' records were analyzed with panoramic radiographs and cephalograms. Congenitally missing third molars were assessed with respect to gender, jaw, and side, and assessed in various types of facial morphology. Linear, angular, and proportional cephalometric measurements were analyzed and compared among the samples. For the evaluation of results, the following statistics were used: the Pearson χ 2 test, one-way ANOVA, and the Student-Newman-Keuls method. The overall prevalence of third molar agenesis was 28.7%. Missing third molars were more common in the maxilla and on the right side, while the difference was not statistically significant (P > 0.05) between genders. Every hypodontia group had a smaller SN-GoGn angle, Y-axis-FH angle, and a larger S-Go/N-Me ratio. The group with third molar agenesis in both jaws had smaller SNA and Wits values. The frequency of third molar agenesis in subjects with a Class II malocclusion was significantly lower than in other types of malocclusion (P < 0.05), and the incidence of third molar agenesis in hypodivergent growth pattern was higher than in other patterns (P < 0.05). The results demonstrate a possible association between third molar agenesis and both sagittal and vertical craniofacial morphology.

Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes.

PubMed

Malmgren, B; Andersson, K; Lindahl, K; Kindmark, A; Grigelioniene, G; Zachariadis, V; Dahllöf, G; Åström, E

2017-01-01

Osteogenesis imperfecta (OI) is a heterogeneous group of disorders of connective tissue, mainly caused by mutations in the collagen type I genes (COL1A1 and COL1A2). Tooth agenesis is a common feature of OI. We investigated the association between tooth agenesis and collagen type I mutations in individuals with OI. In this cohort study, 128 unrelated individuals with OI were included. Panoramic radiographs were analyzed regarding dentinogenesis imperfecta (DGI) and congenitally missing teeth. The collagen I genes were sequenced in all individuals, and in 25, multiplex ligation-dependent probe amplification was performed. Mutations in the COL1A1 and COL1A2 genes were found in 104 of 128 individuals. Tooth agenesis was diagnosed in 17% (hypodontia 11%, oligodontia 6%) and was more frequent in those with DGI (P = 0.016), and in those with OI type III, 47%, compared to those with OI types I, 12% (P = 0.003), and IV, 13% (P = 0.017). Seventy-five percent of the individuals with oligodontia (≥6 missing teeth) had qualitative mutations, but there was no association with OI type, gender, or presence of DGI. The prevalence of tooth agenesis is high (17%) in individuals with OI, and OI caused by a qualitative collagen I mutation is associated with oligodontia. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

The influence of varying maxillary lateral incisor dimensions on perceived smile aesthetics.

PubMed

Bukhary, S M N; Gill, D S; Tredwin, C J; Moles, D R

2007-12-22

The aim of this study was to determine the influence of varying the dimensions of the maxillary lateral incisors on perceived smile aesthetics. Clinical study. Postgraduate dental teaching hospital. A photograph of a female smile displaying only the lips and teeth was digitally altered. First, the width of the maxillary lateral incisors, in proportion to the central incisor, was altered at 5% intervals to produce six images (52%, 57%, 62% [the 'golden proportion'], 67%, 72% and 77%). In a second group, the length of the lateral incisor was altered at 0.5 mm increments to produce five images with the lateral incisor 0.5 mm, 1 mm, 1.5 mm, 2 mm and 2.5 mm shorter than the adjacent central incisor. The photos were ranked from 'most attractive' to 'least attractive' by 41 hypodontia patients, 46 non-hypodontia 'control' patients and 30 dentists. The 67% followed by the 72% lateral-to-central width proportions were the 'most preferred' by all groups. A maxillary lateral incisor that is 1-1.5 mm shorter than the central incisor was the 'most popular' maxillary lateral incisor length. The very short and very long maxillary lateral incisor was consistently perceived as 'least attractive'. There is no evidence to suggest that the golden proportion should be considered the ideal aesthetic standard when creating space for the replacement of missing lateral incisors.

The Congenital Heart Disease Genetic Network Study: rationale, design, and early results.

PubMed

Gelb, Bruce; Brueckner, Martina; Chung, Wendy; Goldmuntz, Elizabeth; Kaltman, Jonathan; Kaski, Juan Pablo; Kim, Richard; Kline, Jennie; Mercer-Rosa, Laura; Porter, George; Roberts, Amy; Rosenberg, Ellen; Seiden, Howard; Seidman, Christine; Sleeper, Lynn; Tennstedt, Sharon; Kaltman, Jonathan; Schramm, Charlene; Burns, Kristin; Pearson, Gail; Rosenberg, Ellen

2013-02-15

Congenital heart defects (CHD) are the leading cause of infant mortality among birth defects, and later morbidities and premature mortality remain problematic. Although genetic factors contribute significantly to cause CHD, specific genetic lesions are unknown for most patients. The National Heart, Lung, and Blood Institute-funded Pediatric Cardiac Genomics Consortium established the Congenital Heart Disease Genetic Network Study to investigate relationships between genetic factors, clinical features, and outcomes in CHD. The Pediatric Cardiac Genomics Consortium comprises 6 main and 4 satellite sites at which subjects are recruited, and medical data and biospecimens (blood, saliva, cardiovascular tissue) are collected. Core infrastructure includes an administrative/data-coordinating center, biorepository, data hub, and core laboratories (genotyping, whole-exome sequencing, candidate gene evaluation, and variant confirmation). Eligibility includes all forms of CHD. Annual follow-up is obtained for probands <1-year-old. Parents are enrolled whenever available. Enrollment from December 2010 to June 2012 comprised 3772 probands. One or both parents were enrolled for 72% of probands. Proband median age is 5.5 years. The one third enrolled at age <1 year are contacted annually for follow-up information. The distribution of CHD favors more complex lesions. Approximately, 11% of probands have a genetic diagnosis. Adequate DNA is available from 97% and 91% of blood and saliva samples, respectively. Genomic analyses of probands with heterotaxy, atrial septal defects, conotruncal, and left ventricular outflow tract obstructive lesions are underway. The scientific community's use of Pediatric Cardiac Genomics Consortium resources is welcome.

Specific Biomarkers Associated With Neurological Complications and Congenital Central Nervous System Abnormalities From Zika Virus-Infected Patients in Brazil.

PubMed

Kam, Yiu-Wing; Leite, Juliana Almeida; Lum, Fok-Moon; Tan, Jeslin J L; Lee, Bernett; Judice, Carla C; Teixeira, Daniel Augusto de Toledo; Andreata-Santos, Robert; Vinolo, Marco A; Angerami, Rodrigo; Resende, Mariangela Ribeiro; Freitas, Andre Ricardo Ribas; Amaral, Eliana; Junior, Renato Passini; Costa, Maria Laura; Guida, José Paulo; Arns, Clarice Weis; Ferreira, Luis Carlos S; Rénia, Laurent; Proença-Modena, Jose Luiz; Ng, Lisa F P; Costa, Fabio T M

2017-07-15

Zika virus (ZIKV) infections have been linked to different levels of clinical outcomes, ranging from mild rash and fever to severe neurological complications and congenital malformations. We investigated the clinical and immunological response, focusing on the immune mediators profile in 95 acute ZIKV-infected adult patients from Campinas, Brazil. These patients included 6 pregnant women who later delivered during the course of this study. Clinical observations were recorded during hospitalization. Levels of 45 immune mediators were quantified using multiplex microbead-based immunoassays. Whereas 11.6% of patients had neurological complications, 88.4% displayed mild disease of rash and fever. Several immune mediators were specifically higher in ZIKV-infected patients, and levels of interleukin 10, interferon gamma-induced protein 10 (IP-10), and hepatocyte growth factor differentiated between patients with or without neurological complications. Interestingly, higher levels of interleukin 22, monocyte chemoattractant protein 1, TNF-α, and IP-10 were observed in ZIKV-infected pregnant women carrying fetuses with fetal growth-associated malformations. Notably, infants with congenital central nervous system deformities had significantly higher levels of interleukin 18 and IP-10 but lower levels of hepatocyte growth factor than those without such abnormalities born to ZIKV-infected mothers. This study identified several key markers for the control of ZIKV pathogenesis. This will allow a better understanding of the molecular mechanisms of ZIKV infection in patients. © The Author 2017. Published by Oxford University Press for the Infectious Diseases Society of America.

Specific Biomarkers Associated With Neurological Complications and Congenital Central Nervous System Abnormalities From Zika Virus–Infected Patients in Brazil

PubMed Central

Kam, Yiu-Wing; Leite, Juliana Almeida; Lum, Fok-Moon; Tan, Jeslin J L; Lee, Bernett; Judice, Carla C; Teixeira, Daniel Augusto de Toledo; Andreata-Santos, Robert; Vinolo, Marco A; Angerami, Rodrigo; Resende, Mariangela Ribeiro; Freitas, Andre Ricardo Ribas; Amaral, Eliana; Junior, Renato Passini; Costa, Maria Laura; Guida, José Paulo; Arns, Clarice Weis; Ferreira, Luis Carlos S; Rénia, Laurent; Proença-Modena, Jose Luiz; Costa, Fabio T M

2017-01-01

Abstract Background Zika virus (ZIKV) infections have been linked to different levels of clinical outcomes, ranging from mild rash and fever to severe neurological complications and congenital malformations. Methods We investigated the clinical and immunological response, focusing on the immune mediators profile in 95 acute ZIKV-infected adult patients from Campinas, Brazil. These patients included 6 pregnant women who later delivered during the course of this study. Clinical observations were recorded during hospitalization. Levels of 45 immune mediators were quantified using multiplex microbead-based immunoassays. Results Whereas 11.6% of patients had neurological complications, 88.4% displayed mild disease of rash and fever. Several immune mediators were specifically higher in ZIKV-infected patients, and levels of interleukin 10, interferon gamma-induced protein 10 (IP-10), and hepatocyte growth factor differentiated between patients with or without neurological complications. Interestingly, higher levels of interleukin 22, monocyte chemoattractant protein 1, TNF-α, and IP-10 were observed in ZIKV-infected pregnant women carrying fetuses with fetal growth–associated malformations. Notably, infants with congenital central nervous system deformities had significantly higher levels of interleukin 18 and IP-10 but lower levels of hepatocyte growth factor than those without such abnormalities born to ZIKV-infected mothers. Conclusions This study identified several key markers for the control of ZIKV pathogenesis. This will allow a better understanding of the molecular mechanisms of ZIKV infection in patients. PMID:28838147

The Congenital Heart Disease Genetic Network Study

PubMed Central

2013-01-01

Congenital heart defects (CHD) are the leading cause of infant mortality among birth defects, and later morbidities and premature mortality remain problematic. Although genetic factors contribute significantly to cause CHD, specific genetic lesions are unknown for most patients. The National Heart, Lung, and Blood Institute-funded Pediatric Cardiac Genomics Consortium established the Congenital Heart Disease Genetic Network Study to investigate relationships between genetic factors, clinical features, and outcomes in CHD. The Pediatric Cardiac Genomics Consortium comprises 6 main and 4 satellite sites at which subjects are recruited, and medical data and biospecimens (blood, saliva, cardiovascular tissue) are collected. Core infrastructure includes an administrative/data-coordinating center, biorepository, data hub, and core laboratories (genotyping, whole-exome sequencing, candidate gene evaluation, and variant confirmation). Eligibility includes all forms of CHD. Annual follow-up is obtained for probands <1-year-old. Parents are enrolled whenever available. Enrollment from December 2010 to June 2012 comprised 3772 probands. One or both parents were enrolled for 72% of probands. Proband median age is 5.5 years. The one third enrolled at age <1 year are contacted annually for follow-up information. The distribution of CHD favors more complex lesions. Approximately, 11% of probands have a genetic diagnosis. Adequate DNA is available from 97% and 91% of blood and saliva samples, respectively. Genomic analyses of probands with heterotaxy, atrial septal defects, conotruncal, and left ventricular outflow tract obstructive lesions are underway. The scientific community’s use of Pediatric Cardiac Genomics Consortium resources is welcome. PMID:23410879

[The Spanish Society of Pediatric Infectious Diseases Guidelines for the diagnosis and treatment of congenital toxoplasmosis].

PubMed

Baquero-Artigao, F; del Castillo Martín, F; Fuentes Corripio, I; Goncé Mellgren, A; Fortuny Guasch, C; de la Calle Fernández-Miranda, M; González-Tomé, M I; Couceiro Gianzo, J A; Neth, O; Ramos Amador, J T

2013-08-01

Congenital toxoplasmosis is the result of transplacental fetal infection by Toxoplasma gondii after the primary maternal infection. The severity of the disease depends on the gestational age at transmission. First trimester infections are more severe, but less frequent, than third trimester infections. Acute maternal infection is diagnosed by seroconversion or by the detection of IgM antibodies and a low IgG avidity test. In these cases, spiramycin should be initiated to prevent transmission to the fetus. For identification of fetal infection, polymerase chain reaction (PCR) testing of amniotic fluid after 18 weeks gestation should be performed. If fetal infection is confirmed, the mothers should be treated with pyrimethamine, sulfadiazine and folinic acid. Most infants infected in utero are born with no obvious signs of toxoplasmosis, but up to 80% developed learning and visual disabilities later in life. Neonatal diagnosis with IgM/IgA antibodies or blood/cerebrospinal fluid PCR may be difficult because false-negative results frequently occur. In these cases diagnosis is possible by demonstrating a rise in IgG titers during follow-up or by the detection of antibodies beyond one year of age. Early treatment with pyrimethamine and sulfadiazine may improve the ophthalmologic and neurological outcome. Congenital toxoplasmosis is a preventable disease. Pre-pregnancy screening and appropriate counseling regarding prevention measures in seronegative women may prevent fetal infection. Copyright © 2012 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.

The Basis for Language Acquisition: Congenitally Deaf Infants Discriminate Vowel Length in the First Months after Cochlear Implantation.

PubMed

Vavatzanidis, Niki Katerina; Mürbe, Dirk; Friederici, Angela; Hahne, Anja

2015-12-01

One main incentive for supplying hearing impaired children with a cochlear implant is the prospect of oral language acquisition. Only scarce knowledge exists, however, of what congenitally deaf children actually perceive when receiving their first auditory input, and specifically what speech-relevant features they are able to extract from the new modality. We therefore presented congenitally deaf infants and young children implanted before the age of 4 years with an oddball paradigm of long and short vowel variants of the syllable /ba/. We measured the EEG in regular intervals to study their discriminative ability starting with the first activation of the implant up to 8 months later. We were thus able to time-track the emerging ability to differentiate one of the most basic linguistic features that bears semantic differentiation and helps in word segmentation, namely, vowel length. Results show that already 2 months after the first auditory input, but not directly after implant activation, these early implanted children differentiate between long and short syllables. Surprisingly, after only 4 months of hearing experience, the ERPs have reached the same properties as those of the normal hearing control group, demonstrating the plasticity of the brain with respect to the new modality. We thus show that a simple but linguistically highly relevant feature such as vowel length reaches age-appropriate electrophysiological levels as fast as 4 months after the first acoustic stimulation, providing an important basis for further language acquisition.

Five-Year Follow-Up and Outcomes of Noninvasive Ventilation in Subjects With Neuromuscular Diseases.

PubMed

Suh, Mi Ri; Choi, Won Ah; Kim, Dong Hyun; Lee, Jang Woo; Kim, Eun Young; Kang, Seong-Woong

2018-03-01

The purpose of this study was to investigate the 5-year outcomes of noninvasive ventilation (NIV) application in different neuromuscular disease (NMD) groups. We categorized 180 subjects who had initiated NIV between March 2001 and August 2009 into 4 groups and followed them for > 5 y. The NIV maintenance rate and average duration, applying time, and forced vital capacity (FVC) were investigated at the time NIV was initiated and 5 y after NIV initiation in each group. In subjects with amyotrophic lateral sclerosis (ALS), Duchenne muscular dystrophy (DMD), and spinal muscular atrophy (SMA)-congenital myopathy, the 5-year subjects who continued to use NIV over time were 22.5%, 89.4%, and 91.3%, respectively, and the average NIV maintenance durations were 21.53 ± 19.26 months, 55.22 ± 11.47 months, and 57.48 ± 8.34 months, respectively ( P < .001). Median daily applying time changed from 8.0 h to 24.0 h ( P < .001), from 8.0 h to 12.0 h ( P < .001), and from 8.0 h to 9.0 h ( P = .11) in subjects with ALS, DMD, and SMA-congenital myopathy, respectively. FVC decreased significantly after 5 y except in the group with combined SMA-congenital myopathy. NIV was tolerated long-term without significant increases in daily application time for most subjects with NMD. However, in individuals with ALS, development of severe bulbar symptoms can risk maintaining NIV. Copyright © 2018 by Daedalus Enterprises.

Craniofacial and dental malformations in Costello syndrome: A detailed evaluation using multi-detector row computed tomography.

PubMed

Takahashi, Masashi; Ohashi, Hirofumi

2013-06-01

Costello syndrome is a rare multiple congenital anomaly syndrome caused by heterozygous germline HRAS mutations, which is characterized by intellectual disability, growth retardation, distinctive facies, loose skin, cardiomyopathy and a preposition to malignancies. Although teeth abnormalities have been encountered in nearly two-thirds of the patients in literature, the evaluation tended to be limited to the extent which can be obtained from physical examination. We investigated detailed craniofacial, oral and dental findings in four patients with Costello syndrome. In this study, images reconstructed by multi-detector row computed tomography (MDCT) were used as substitutes for dental cast study and panoramic and lateral cephalometric radiograph studies to evaluate dental arches, tooth size, relationships between craniofacial and dental structures, and hypodontia. All four patients showed true/relative macrocephaly with facial bone hypoplasia and gingival hypertrophy. Occlusal attrition, malocclusion, small dental arches, microdontia, and convex face were noted in three patients. In addition, one patient showed dental caries, conic tooth and gingivitis, and another patient showed hypodontia. Our study suggests that craniofacial and dental abnormalities are common in Costello syndrome patients and comprehensive dental care should be provided from early infancy. To our knowledge, this is the first study of thorough craniofacial and dental evaluation by using MDCT in Costello syndrome. MDCT is a useful tool for precise evaluation of craniofacial and oral manifestations in patients with congenital anomaly/intellectual disability syndromes. © 2012 The Authors. Congenital Anomalies © 2012 Japanese Teratology Society.

Identity dynamics and peer relationship quality in adolescents with a chronic disease: the sample case of congenital heart disease.

PubMed

Rassart, Jessica; Luyckx, Koen; Apers, Silke; Goossens, Eva; Moons, Philip

2012-10-01

Identity formation has been found to relate to psychosocial and disease-specific functioning in chronically ill adolescents. Therefore, examining antecedent factors of identity formation in this population is needed. The main goal of the present longitudinal study was to examine how peer relationship quality influenced identity formation in adolescents with congenital heart disease (CHD). Adolescents with CHD were selected from the database of pediatric and congenital cardiology of the University Hospitals Leuven. A total of 429 adolescents (14-18 years) with CHD participated at time 1; 401 were matched on gender and age with community controls recruited at secondary schools. Adolescents completed questionnaires on identity and peer relationship quality. Nine months later, at time 2, 382 patients again completed these questionnaires. Adolescents with CHD were generally found to be as competent as controls in addressing the task of identity formation. Moreover, the importance of peer relationships for identity formation was demonstrated. Supportive peer relationships positively influenced the process of identifying with the identity commitments made. Furthermore, such relationships protected adolescents from getting stuck in the exploration process. Finally, reciprocal pathways were uncovered; a maladaptive exploration process was also found to negatively affect peer relationships. The present study found peer relationship quality to be an important antecedent factor of identity formation in adolescents with CHD. Future research should investigate how changes in peer relationships and identity relate to well-being in these patients.

Congenital syphilis investigation processes and timing in Louisiana.

PubMed

Bradley, Heather; Gruber, DeAnn; Introcaso, Camille E; Foxhood, Joseph; Wendell, Debbie; Rahman, Mohammad; Ewell, Joy; Kirkcaldy, Robert D; Weinstock, Hillard S

2014-09-01

Congenital syphilis (CS) is a potentially life-threatening yet preventable infection. State and local public health jurisdictions conduct investigations of possible CS cases to determine case status and to inform public health prevention efforts. These investigations occur when jurisdictions receive positive syphilis test results from pregnant women or from infants. We extracted data from Louisiana's electronic case management system for 328 infants investigated as possible CS cases in 2010 to 2011. Using date stamps from the case management system, we described CS investigations in terms of processes and timing. Eighty-seven investigations were prompted by positive test results from women who were known to be pregnant by the health jurisdiction, and 241 investigations were prompted by positive syphilis test results from infants. Overall, investigations required a median of 101 days to complete, although 25% were complete within 36 days. Investigations prompted by positive test results from infants required a median of 135 days to complete, and those prompted by positive test results from pregnant women required a median of 41 days. Three times as many CS investigations began with reported positive syphilis test results from infants as from pregnant women, and these investigations required more time to complete. When CS investigations begin after an infant's birth, the opportunity to ensure that women are treated during pregnancy is missed, and surveillance data cannot inform prevention efforts on a timely basis. Consistently ascertaining pregnancy status among women whose positive syphilis test results are reported to public health jurisdictions could help to assure timely CS prevention efforts.

Mutations in STT3A and STT3B cause two congenital disorders of glycosylation

PubMed Central

Shrimal, Shiteshu; Ng, Bobby G.; Losfeld, Marie-Estelle; Gilmore, Reid; Freeze, Hudson H.

2013-01-01

We describe two unreported types of congenital disorders of glycosylation (CDG) which are caused by mutations in different isoforms of the catalytic subunit of the oligosaccharyltransferase (OST). Each isoform is encoded by a different gene (STT3A or STT3B), resides in a different OST complex and has distinct donor and acceptor substrate specificities with partially overlapping functions in N-glycosylation. The two cases from unrelated consanguineous families both show neurologic abnormalities, hypotonia, intellectual disability, failure to thrive and feeding problems. A homozygous mutation (c.1877T > C) in STT3A causes a p.Val626Ala change and a homozygous intronic mutation (c.1539 + 20G > T) in STT3B causes the other disorder. Both mutations impair glycosylation of a GFP biomarker and are rescued with the corresponding cDNA. Glycosylation of STT3A- and STT3B-specific acceptors is decreased in fibroblasts carrying the corresponding mutated gene and expression of the STT3A (p.Val626Ala) allele in STT3A-deficient HeLa cells does not rescue glycosylation. No additional cases were found in our collection or in reviewing various databases. The STT3A mutation significantly impairs glycosylation of the biomarker transferrin, but the STT3B mutation only slightly affects its glycosylation. Additional cases of STT3B-CDG may be missed by transferrin analysis and will require exome or genome sequencing. PMID:23842455

Ambras Syndrome: First Reported Case in Bangladesh and its Oral Rehabilitation.

PubMed

Khan, M H; Ashrafuzzaman, S M; Taib, A N; Alam, M T; Khan, S H; Goldstein, S K; Rahman, R

2015-10-01

People with rare hypertrichosis syndromes became crowd-drawing money-making phenomena in many 19th century sideshow acts. These individuals have been referred to as dog-men, hair-men, and werewolves. In 1993, Baumister et al. described congenital hypertrichosis lanuginose or Ambras syndrome: a distinct form of congenital hypertrichosis characterized by excessive hair growth over the body and face associated with facial and occasional dental anomalies. Much is not known about this syndrome since fewer than 50 cases have been documented worldwide. In this case report, a nine year old girl presented with excessive hair growth throughout her body that was denser along her midline. Furthermore, her face displayed the typical dysmorphic features characteristic of Ambras syndrome: a round tip nose, thickened nasal cartilage, antiverted nares, prominent philtrum with deep groove, and a trapezoid mouth. Oral examination revealed normal oral mucosa with completely missing and unerupted decidious and permanent teeth. Panoramic radiographs confirmed unerupted deciduous teeth. Previous case reports have mentioned the presence of occasional dental anomalies such as retarded first and second dentition and absence of some teeth. However, this is the first reported case of Ambras syndrome presenting with complete anodontia. Prior cytogenetic studies performed on persons with Ambras syndrome have implicated a balanced pericentric inversion of chromosome 8. However, it is likely that dental anomalies are likely a result of a different genetic rearrangement. Further studies are needed to explore the cause of this rare phenotype of Ambras syndrome with complete unerupted dentition.

Disorders of Platelet Function

PubMed Central

Huebsch, Lothar B.; Harker, Laurence A.

1981-01-01

Platelets play an important role in hemostasis, and alterations in platelet function may be the cause of abnormal bleeding in a wide variety of congenital and acquired clinical disorders. Platelet dysfunction may be classified as disorders of (1) substrate connective tissue, (2) adhesion, (3) aggregation and (4) platelet-release reaction. The congenital defects of platelet function, although uncommon, have provided important insights into platelet physiology and pathophysiology and, as a group, are less common, better characterized and more readily classified than the acquired defects. The severity of bleeding resulting from platelet dysfunction varies greatly and is substantially increased when another defect of hemostasis coexists. A disorder of platelet function is suspected on the basis of the history and physical examination and is confirmed by the finding of a prolonged bleeding time in the presence of an adequate number of platelets. A specific diagnosis often requires measurements of the factor VIII and von Willebrand factor complex and other tests of platelet function. Some of these tests may be available only in specialized laboratories. Therapy for bleeding episodes resulting from platelet dysfunction is directed at (1) removing or treating the underlying cause of the platelet disorder; (2) replacing the missing plasma cofactors needed to support normal platelet function (such as by the transfusion of cryoprecipitate in patients with von Willebrand disease, and (3) transfusing functional platelets in the form of platelet concentrates in patients with disorders of intrinsic platelet dysfunction. ImagesFigure 1.Figure 2.Figure 3. PMID:7013276

Dental treatment considerations for a pediatric patient with incontinentia pigmenti (Bloch-Sulzberger syndrome)

PubMed Central

Chen, Amy Yi-Ling; Chen, Kevin

2017-01-01

Incontinentia pigmenti (IP) is a uncommon gene disorder, heritage with X-linked dominant mode. IP patients have a characteristic dentition varying from marked hypodontia to delayed eruption and conical crowns on both dentitions. A 5½-year-old girl, whose mother and younger sister were also diagnosed with IP, has the whirling-like pigmented skin lesion over her trunk and four extremities. Four primary teeth and multiple permanent tooth germs were found to be congenital missing. Dental considerations of further treatment were discussed with her parents including the preservation of primary molars, possible interim prosthesis in mixed or permanent dentition, full mouth rehabilitation with orthodontic and prosthodontic combined treatment, and implant therapy in adulthood. Early and longitudinal involvement of pediatric dentist to deal with the dental complications of IP can not only solve the esthetic problem and oral function but also maintain the oral health of children with IP to adulthood. PMID:28729805

Fused primary first mandibular macromolar with a unique relation to its permanent successors: A rare tooth anomaly.

PubMed

Dhindsa, Abhishek; Garg, Shalini; Damle, S G; Opal, Shireen; Singh, Tavleen

2013-04-01

Dental anomalies of number and forms may occur in the primary and permanent dentition. Various terms have been used to describe dental twinning anomalies: Germination, fusion, concrescence, double teeth, conjoined teeth, twinned teeth, geminifusion, and vicinifusion. Fused tooth is a developmental anomaly that is seen more frequently in the primary than the permanent dentition. Double tooth involving deciduous anterior teeth is found mostly in the mandible. Very few cases of nonsyndromic double primary molar have been reported in the literature. The succeeding permanent tooth is often found missing congenitally in the same region. This article reports a very rare unilateral occurrence of an anomalous, primary mandibular first macromolar formed by fusion with a dysmorphic premolar like supernumerary tooth in deciduous dentition period. Instead of agenesis of succedaneous tooth, the double tooth has been succeeded by normally developing mandibular first premolar in the same region.

Formation of 2D-PhCs with missing holes based on Si-layers by EBL

NASA Astrophysics Data System (ADS)

Utkin, D. E.; Shklyev, A. A.; Tsarev, A. V.; Latyshev, A. V.

2017-11-01

The fabrication of the periodic structures, that is two-dimensional photonic crystals (2D PhCs) based on Si-materials by electron beam lithography (EBL) technique has been studied. We have investigated basic lithography processes such as designing, exposition, development, etching and others. The developed top-down approach allows close-packed arrays of elements and holes to be formed in nanometre range. This can be used to produce 2D PhCs with emitting micro-cavities (missing holes) with lateral size parameters with an accuracy of about 2% in the Si (100) substrate and in silicon-on-insulator structures. Such accuracy is expected to be sufficient for obtaining the cavities-coupling radiation interference from large areas of 2D PhCs.

Increased Prevalence of Renal and Urinary Tract Anomalies in Children with Congenital Hypothyroidism

PubMed Central

Kumar, Juhi; Gordillo, Roberto; Kaskel, Frederick J.; Druschel, Charlotte M.; Woroniecki, Robert P.

2013-01-01

Objective We investigated the prevalence of congenital renal and urologic anomalies in children with congenital hypothyroidism to determine whether further renal and urologic investigations would be of benefit. Study design Prevalence of congenital hypothyroidism was obtained from the New York State Congenital Malformation Registry. The occurrence of urinary tract anomalies were calculated for children with congenital hypothyroidism and compared to children without congenital hypothyroidism. In addition we obtained congenital hypothyroidism data from New York State newborn screening, and the cases were matched to Congenital Malformation Registry. Results Analysis of Congenital Malformation Registry data showed 980 children with congenital hypothyroidism and 3 661 585 children without congenital hypothyroidism born in New York State (1992-2005). Children with congenital hypothyroidism have a significantly increased risk of congenital renal and urological anomalies with the odds ratio (OR) of 13.2 (10.6-16.5). The other significantly increased defects in congenital hypothyroidism were cardiac, gastrointestinal, and skeletal. Analysis of matched data confirmed an increase of congenital renal and urologic anomalies with OR of 4.8 (3.7-6.3). Conclusions Children with congenital hypothyroidism have an increased prevalence of congenital renal and urologic anomalies. We suggest that these children should be evaluated for the presence of congenital renal and urologic anomalies with renal ultrasonography, and that further studies of common genes involved in thyroid and kidney development are warranted. PMID:18823909

Missing Talent. Research Brief. Edition 5

ERIC Educational Resources Information Center

Allen, Rebecca

2015-01-01

Every year there are high achievers at primary school, pupils scoring in the top 10% nationally in their Key Stage 2 (KS2) tests, yet who five years later receive a set of GCSE results that place them outside the top 25% of pupils. There are about 7,000 such pupils each year, 15% of all those we term as highly able. We call these pupils our…

Measuring Missed School: The Historical Precedents for the Measurement and Use of Attendance Records to Evaluate Schools

ERIC Educational Resources Information Center

Hutt, Ethan L.

2018-01-01

In this article, the author highlights a recurrent issue related to the historical measurement and use of attendance data: The challenge of producing uniform and reliable records on school attendance. Comparing this issue in the late 1800s to nearly two centuries later, he observes that while the capacity for record keeping and analysis has…

The effect of missing KIR ligands, activating KIR genotype and haplotype on the outcome of T-cell-replete hematopoietic stem cell transplantation from HLA-identical siblings in Thai patients.

PubMed

Khanuntong, S; Kuptawintu, P; Upaisilpsathaporn, K; Poolchareon, A; Bunworasate, U; Hirankarn, N

2016-06-01

This study was a retrospective analysis of Thai patients undergoing T-replete hematopoietic stem cell transplant from human leukocyte antigen (HLA)-identical sibling donors. We investigated 66 patients, including 40 patients with acute myeloid leukemia (AML), 12 patients with acute lymphoblastic leukemia and 14 patients with chronic myeloid leukemia. Killer cell immunoglobulin-like receptor (KIR) genes and HLA ligands were typed by polymerase chain reaction-sequence specific oligonucleotide probes. We analyzed the effect of the number of missing KIR ligands (Bw4, C1 and C2) on clinical outcomes. A beneficial effect of missing KIR ligand was not observed in both univariate and multivariate analysis. When we analyzed the effect of specific missing KIR ligand on clinical outcomes, there was a trend that patients with missing A11 ligand had lower relapse rate (P = 0.076). Therefore, we also conducted the analysis by including the group with missing KIR ligands of Bw4, C1, C2 and A11. Patients with two or more than two missing KIR ligands had a trend for better clinical outcome including reduced relapse (P = 055) and statistically significant in terms of reduced acute graft-vs-host disease (aGVHD) rate (P = 0.013). In multivariate analysis, patients with two or more than two missing KIR ligands had a statistically significant better clinical outcome in terms of reduced aGVHD rate (HR = 0.155, 95%CI = 0.040-0.605, P = 0.007). The association between clinical outcome with KIR haplotypes, centromeric B haplotype and activating KIR was not observed here. Although the sample size in this study is rather limited, these data can later be subjected to meta-analysis to help reach the conclusion of the usefulness of this additional promising KIR genotyping in various hematopoietic stem cell transplantation types. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Left Right Patterning, Evolution and Cardiac Development

PubMed Central

Dykes, Iain M.

2018-01-01

Many aspects of heart development are determined by the left right axis and as a result several congenital diseases have their origins in aberrant left-right patterning. Establishment of this axis occurs early in embryogenesis before formation of the linear heart tube yet impacts upon much later morphogenetic events. In this review I discuss the differing mechanisms by which left-right polarity is achieved in the mouse and chick embryos and comment on the evolution of this system. I then discus three major classes of cardiovascular defect associated with aberrant left-right patterning seen in mouse mutants and human disease. I describe phenotypes associated with the determination of atrial identity and venous connections, looping morphogenesis of the heart tube and finally the asymmetric remodelling of the embryonic branchial arch arterial system to form the leftward looped arch of aorta and associated great arteries. Where appropriate, I consider left right patterning defects from an evolutionary perspective, demonstrating how developmental processes have been modified in species over time and illustrating how comparative embryology can aide in our understanding of congenital heart disease. PMID:29755990

Embolization of the Systemic Arterial Supply via a Detachable Silicon Balloon in a Child with Scimitar Syndrome

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

Sahin, Sinan; Celebi, Ahmet; Yalcin, Yalim

2005-04-15

Scimitar syndrome is a rare congenital disorder. It is characterized by partial or total abnormal venous drainage of the right lung into the inferior vena cava, which is often associated with anomalous systemic arterial supply to the right lung, congenital cardiac anomalies, hypoplasia of the right lung and bronchial anomalies. Symptoms depend on the degree of the shunt and severity of the associated anomalies, which determine the treatment. We present a 6-year-old boy who was diagnosed as having the adult form of scimitar syndrome during evaluation for recurrent pulmonary infections, and underwent embolization with a detachable silicon balloon of themore » anomalous systemic arterial supply from the abdominal aorta to the right lower lung lobe. Successful elective surgery was performed 6 months later, in which right pulmonary veins were directed to the left atrium using a Gore-Tex patch by creating an intra-atrial tunnel. The patient has been symptom-free period during 6 months of follow-up, which supports the idea that recurrent pulmonary infections can be eliminated by embolization of the anomalous arterial supply.« less

Quantification of functional near infrared spectroscopy to assess cortical reorganization in children with cerebral palsy

PubMed Central

Tian, Fenghua; Delgado, Mauricio R.; Dhamne, Sameer C.; Khan, Bilal; Alexandrakis, George; Romero, Mario I.; Smith, Linsley; Reid, Dahlia; Clegg, Nancy J.; Liu, Hanli

2013-01-01

Cerebral palsy (CP) is the most common motor disorder in children. Currently available neuroimaging techniques require complete body confinement and steadiness and thus are extremely difficult for pediatric patients. Here, we report the use and quantification of functional near infrared spectroscopy (fNIRS) to investigate the functional reorganization of the sensorimotor cortex in children with hemiparetic CP. Ten of sixteen children with congenital hemiparesis were measured during finger tapping tasks and compared with eight of sixteen age-matched healthy children, with an overall measurement success rate of 60%. Spatiotemporal analysis was introduced to quantify the motor activation and brain laterality. Such a quantitative approach reveals a consistent, contralateral motor activation in healthy children at 7 years of age or older. In sharp contrast, children with congenital hemiparesis exhibit all three of contralateral, bilateral and ipsilateral motor activations, depending on specific ages of the pediatric subjects. This study clearly demonstrates the feasibility of fNIRS to be utilized for investigating cortical reorganization in children with CP or other cortical disorders. PMID:21164944

Congenital gonadotropin deficiency in boys: management during childhood.

PubMed

Adan, L; Couto-Silva, A C; Trivin, C; Metz, C; Brauner, R

2004-02-01

To analyze the features of boys with congenital gonadotropin deficiency (CGD), and to determine the value of plasma inhibin B and anti-Müllerian hormone (AMH) for predicting testicular function and the effect of testosterone treatment. We followed 19 boys for CGD, including five with Kallmann syndrome. The boys were seen before 14 years of age for micropenis (9 boys) or later for delayed puberty (10 boys). No testis was palpable in the scrotum in 13 patients, bilaterally in seven of them. Luteinizing hormone (LH) peak after a gonadotropin releasing hormone (GnRH) test was between 0.5 and 5.6 U/l. Plasma inhibin B was low in the four patients evaluated at less than 1 year old. AMH was low in one of them and normal in four others. Of the older patients, three lad low plasma inhibin B and four had normal concentrations; plasma AMH was low in three of them and increased in four. Testosterone treatment restored penis length to normal in all patients. Low plasma inhibin B and AMH concentrations may indicate testicular damage in boys with CGD.

Agrin-LRP4-MuSK signaling as a therapeutic target for myasthenia gravis and other neuromuscular disorders.

PubMed

Ohno, Kinji; Ohkawara, Bisei; Ito, Mikako

2017-10-01

Signal transduction at the neuromuscular junction (NMJ) is compromised in a diverse array of diseases including myasthenia gravis, Lambert-Eaton myasthenic syndrome, Isaacs' syndrome, congenital myasthenic syndromes, Fukuyama-type congenital muscular dystrophy, amyotrophic lateral sclerosis, and sarcopenia. Except for sarcopenia, all are orphan diseases. In addition, the NMJ signal transduction is impaired by tetanus, botulinum, curare, α-bungarotoxin, conotoxins, organophosphate, sarin, VX, and soman to name a few. Areas covered: This review covers the agrin-LRP4-MuSK signaling pathway, which drives clustering of acetylcholine receptors (AChRs) and ensures efficient signal transduction at the NMJ. We also address diseases caused by autoantibodies against the NMJ molecules and by germline mutations in genes encoding the NMJ molecules. Expert opinion: Representative small compounds to treat the defective NMJ signal transduction are cholinesterase inhibitors, which exert their effects by increasing the amount of acetylcholine at the synaptic space. Another possible therapeutic strategy to enhance the NMJ signal transduction is to increase the number of AChRs, but no currently available drug has this functionality.

Tinnitus pitch and minimum masking levels in different etiologies.

PubMed

Zagólski, Olaf; Stręk, Paweł

2014-07-01

We sought to determine whether the results of audiological tests and tinnitus characteristics, particularly tinnitus pitch and minimum masking level (MML), depend on tinnitus etiology, and what other etiology-specific tinnitus characteristics there are. The patients answered questions concerning tinnitus laterality, duration, character, aggravation, alleviation, previous treatment, and circumstances of onset. The results of tympanometry, pure-tone audiometry, distortion-product otoacoustic emissions, tinnitus likeness spectrum, MML, and uncomfortable loudness level were evaluated. Patients with several tinnitus etiological factors were excluded. The remaining participants were divided into groups according to medical history: acute acoustic trauma: 67 ears; chronic acoustic trauma: 82; prolonged use of oral estrogen and progesterone contraceptives: 46; Ménière's disease: 25; congenital hearing loss: 19; sensorineural sudden deafness: 40; dull head trauma: 19; viral labyrinthitis: 53; stroke: 6; presbycusis: 152. Data of 509 ears were analysed. Tinnitus pitch was highest in patients with acute acoustic trauma and lowest in patients receiving estrogen and progesterone. MML was lowest after acute acoustic trauma and in congenital hearing loss, and highest after a stroke and in the case of presbytinnitus. Tinnitus pitch and MML are etiology dependent.

Standardized Postnatal Management of Infants with Congenital Diaphragmatic Hernia in Europe: The CDH EURO Consortium Consensus - 2015 Update.

PubMed

Snoek, Kitty G; Reiss, Irwin K M; Greenough, Anne; Capolupo, Irma; Urlesberger, Berndt; Wessel, Lucas; Storme, Laurent; Deprest, Jan; Schaible, Thomas; van Heijst, Arno; Tibboel, Dick

2016-01-01

In 2010, the congenital diaphragmatic hernia (CDH) EURO Consortium published a standardized neonatal treatment protocol. Five years later, the number of participating centers has been raised from 13 to 22. In this article the relevant literature is updated, and consensus has been reached between the members of the CDH EURO Consortium. Key updated recommendations are: (1) planned delivery after a gestational age of 39 weeks in a high-volume tertiary center; (2) neuromuscular blocking agents to be avoided during initial treatment in the delivery room; (3) adapt treatment to reach a preductal saturation of between 80 and 95% and postductal saturation >70%; (4) target PaCO2 to be between 50 and 70 mm Hg; (5) conventional mechanical ventilation to be the optimal initial ventilation strategy, and (6) intravenous sildenafil to be considered in CDH patients with severe pulmonary hypertension. This article represents the current opinion of all consortium members in Europe for the optimal neonatal treatment of CDH. © 2016 The Author(s) Published by S. Karger AG, Basel.

Patent ductus arteriosus in mice with smooth muscle-specific Jag1 deletion

PubMed Central

Feng, Xuesong; Krebs, Luke T.; Gridley, Thomas

2010-01-01

The ductus arteriosus is an arterial vessel that shunts blood flow away from the lungs during fetal life, but normally occludes after birth to establish the adult circulation pattern. Failure of the ductus arteriosus to close after birth is termed patent ductus arteriosus and is one of the most common congenital heart defects. Mice with smooth muscle cell-specific deletion of Jag1, which encodes a Notch ligand, die postnatally from patent ductus arteriosus. These mice exhibit defects in contractile smooth muscle cell differentiation in the vascular wall of the ductus arteriosus and adjacent descending aorta. These defects arise through an inability to propagate the JAG1-Notch signal via lateral induction throughout the width of the vascular wall. Both heterotypic endothelial smooth muscle cell interactions and homotypic vascular smooth muscle cell interactions are required for normal patterning and differentiation of the ductus arteriosus and adjacent descending aorta. This new model for a common congenital heart defect provides novel insights into the genetic programs that underlie ductus arteriosus development and closure. PMID:21068062

Pneumovesicoscopic treatment of congenital bladder diverticula in children: our experience.

PubMed

Marte, Antonio; Sabatino, Maria D; Borrelli, Micaela; Del Balzo, Biago; Nino, Fabiano; Prezioso, Maurizio; Parmeggiani, Pio

2010-02-01

In this article, we report our experience with diverticulectomies of symptomatic congenital bladder diverticula in children, which was performed by utilizing pneumovesicoscopy. Six boys, 4-8 years of age (mean, 5.6) underwent pneumovesicoscopic diverticulectomy at our institution from June 2007 to June 2008. There were 4 right-single diverticula and 2 double-left diverticula. Under cystoscopic control, after the cystopexy to the abdominal wall, a midline 5-mm trocar for a 0-degree telescope and two lateral 3-mm reusable trocars through the anterolateral wall of the bladder in the midclavicular line were introduced, insufflating the bladder with carbondioxide to 10-12 mm Hg pressure. The diverticulum/a were inverted into the bladder and the mucosa around the neck was circumcized by using scissors and a monopolar hook. The defect was sutured with interrupted sutures and the bladder was drained with a Foley catheter, which was introduced at the site of the 5-mm port, and a urethral catheter. Mean operative time was 110 minutes. No major peri- or postoperative complications were recorded, except that the displacement of one of the lateral trocars that resulted in gas leakage in 1 case. The trocar was replaced and the procedure was completed. An ultrasound and a voiding cystourethrogram, performed from 3 to 6 months after the operation, showed the disappearance of the diverticulum/a. In our experience, pneumovesicoscopic diverticulectomy is an easy, safe procedure and can be considered a valid alternative to the open or laparoscopic procedures. It also provides no postoperative discomfort and a good cosmetic result.

Inaccuracy of Wolff-Parkinson-white accessory pathway localization algorithms in children and patients with congenital heart defects.

PubMed

Bar-Cohen, Yaniv; Khairy, Paul; Morwood, James; Alexander, Mark E; Cecchin, Frank; Berul, Charles I

2006-07-01

ECG algorithms used to localize accessory pathways (AP) in patients with Wolff-Parkinson-White (WPW) syndrome have been validated in adults, but less is known of their use in children, especially in patients with congenital heart disease (CHD). We hypothesize that these algorithms have low diagnostic accuracy in children and even lower in those with CHD. Pre-excited ECGs in 43 patients with WPW and CHD (median age 5.4 years [0.9-32 years]) were evaluated and compared to 43 consecutive WPW control patients without CHD (median age 14.5 years [1.8-18 years]). Two blinded observers predicted AP location using 2 adult and 1 pediatric WPW algorithms, and a third blinded observer served as a tiebreaker. Predicted locations were compared with ablation-verified AP location to identify (a) exact match for AP location and (b) match for laterality (left-sided vs right-sided AP). In control children, adult algorithms were accurate in only 56% and 60%, while the pediatric algorithm was correct in 77%. In 19 patients with Ebstein's anomaly, diagnostic accuracy was similar to controls with at times an even better ability to predict laterality. In non-Ebstein's CHD, however, the algorithms were markedly worse (29% for the adult algorithms and 42% for the pediatric algorithms). A relatively large degree of interobserver variability was seen (kappa values from 0.30 to 0.58). Adult localization algorithms have poor diagnostic accuracy in young patients with and without CHD. Both adult and pediatric algorithms are particularly misleading in non-Ebstein's CHD patients and should be interpreted with caution.

A new corporoplasty based on stratified structure of tunica albuginea for the treatment of congenital penile curvature - long-term results.

PubMed

Perdzyński, Wojciech; Adamek, Marek

2015-01-01

The aim of the study was to report long-term results of treatment of patients with congenital penile curvature (CPC) with a new corporoplasty based on stratified structure of tunica albuginea, in which corporal bodies are not opened. From October 2006 to September 2013, the authors operated on 111 adult men with CPC. Ventral curvature was detected in 65 patients, lateral in 34, and dorsal in 12. Skin was incised longitudinally on convex surface of curvature. In ventral curvature, dorsal neuro-vascular bundles (NVBs) were separated from tunica albuginea and elliptical fragments of external (longitudinal) layer of tunica were excised. The tunica was sutured with absorbable sutures, which invaginated the internal (transversal) layer of tunica. In dorsal curvature, excisions were performed on both sides of the urethra, in lateral curvature - on the convex penile surface. Follow-up period was from 12 to 84 months. The penis was completely straight in 109 out of 111 patients. In 2 patients (1.8%) recurrent curvature of up to 20 degrees was detected. Redo surgery was done in one individual (0.9%) at patient's request. Glandular sensation loss or erectile dysfunction was not detected in any patient during the period of observation. A new operation for correction of CPC, which consists of excision of an elliptical fragment of the external layer of the tunica albuginea and plication of the internal layer gives good short and long-term results. Surgery done without penetrating the corpora cavernosa is minimally invasive, which diminishes the potential risk of complications, especially intra- and postoperative bleeding.

Class start times, sleep, and academic performance in college: a path analysis.

PubMed

Onyper, Serge V; Thacher, Pamela V; Gilbert, Jack W; Gradess, Samuel G

2012-04-01

Path analysis was used to examine the relationship between class start times, sleep, circadian preference, and academic performance in college-aged adults. Consistent with observations in middle and high school students, college students with later class start times slept longer, experienced less daytime sleepiness, and were less likely to miss class. Chronotype was an important moderator of sleep schedules and daytime functioning; those with morning preference went to bed and woke up earlier and functioned better throughout the day. The benefits of taking later classes did not extend to academic performance, however; grades were somewhat lower in students with predominantly late class schedules. Furthermore, students taking later classes were at greater risk for increased alcohol consumption, and among all the factors affecting academic performance, alcohol misuse exerted the strongest effect. Thus, these results indicate that later class start times in college, while allowing for more sleep, also increase the likelihood of alcohol misuse, ultimately impeding academic success.

Congenital Complete Absence of Pericardium Masquerading as Pulmonary Embolism

PubMed Central

Tariq, Saad; Mahmood, Sultan; Madeira, Samuel; Tarasov, Ethan

2013-01-01

Congenital absence of the pericardium is a rare cardiac condition, which can be either isolated or associated with other cardiac and extracardiac anomalies. There are six different types, depending on the severity of the involvement. Most of the patients with this defect are asymptomatic, especially the ones with complete absence of the pericardium. However, some patients are symptomatic, reporting symptoms that include chest pain, palpitations, dyspnea, and syncope. Diagnosis is established by the characteristic features on chest X-ray, echocardiogram, chest computed tomography (CT), and/or cardiac magnetic resonance imging (MRI). We present here a case of a 23 year-old-male, who presented to our hospital with complaints of pleuritic chest pain and exertional dyspnea, of a two-week duration. He was physically active and his past history was otherwise insignificant. His chest CT with contrast was interpreted as showing evidence of multiple emboli, predominantly in the left lung, and he was started on a heparin and warfarin therapy. A repeat chest CT with contrast three weeks later showed no significant change from the previous CT scan. Both scans showed that the heart was abnormally rotated to the left side of the chest. An echocardiogram raised the suspicion of congenital absence of the pericardium, with a posteriorly displaced heart. In retrospect, motion artifact on the left lung, attributed to cardiac pulsations and the lack of pericardium, resulted in a CT chest appearance, mimicking findings of pulmonary embolism. The misdiagnosis of pulmonary embolism was attributed to the artifact caused by excessive cardiac motion artifact on the chest CT scan. In non-gated CT angiograms, excessive motion causes an artifact that blurs the pulmonary vessels, reminiscent of a ′seagull′ or a ′boomerang′. Physicians need to be aware of this phenomenon, as well as the characteristic radiological features of this congenital anomaly, to enable them to make a correct diagnosis. PMID:23580923

Congenital malformations of the inner ear and the vestibulocochlear nerve in children with sensorineural hearing loss: evaluation with CT and MRI.

PubMed

Westerhof, J P; Rademaker, J; Weber, B P; Becker, H

2001-01-01

The purpose of this work was to study the diagnostic value of CT and MRI in children with sensorineural hearing loss and to analyze anatomic abnormalities of the inner ear and the vestibulocochlear nerve in this patient group. We evaluated 42 inner ears in 21 children with congenital deafness who had congenital inner ear malformations and who were candidates for cochlear implants. All patients were studied with high resolution MR and helical CT examinations. The MR study included a T2-weighted 3D fast SE sequence. We describe and tabulate the anatomic abnormalities. Special attention was given to abnormalities of the vestibulocochlear nerve. The field of view in the plane according to the length axis of the internal auditory canal (IAC) was 4 cm. Additional continuous parasagittal reformations perpendicular to the length axis of the IAC were studied with a field of view of 3 cm. CT and MRI allowed accurate identification of malformations of the inner ear in children with congenital deafness. We identified 99 malformations, with a majority of patients demonstrating multiple abnormalities. Common imaging findings were Mondini abnormality and Mondini variants (12/42) and fusion of the lateral or superior semicircular canal with the vestibule (12/42). MRI demonstrated in 9 of 21 patients a rudimentary or absent vestibulocochlear nerve in the auditory canal. CT and MRI are important modalities to analyze the inner ear in children who are candidates for cochlear implants. MRI with an extremely small field of view should be used to study possible abnormalities of the vestibulocochlear nerves. This may alter clinical care and allow cochlear implant placement in patients whose electrodiagnostic studies suggest that the implant should not be performed. The detailed analysis of abnormalities of the inner ear might establish prognostic factors.

Achievements and Challenges upon the Implementation of a Program for National Control of Congenital Chagas in Bolivia: Results 2004–2009

PubMed Central

Alonso-Vega, Cristina; Billot, Claire; Torrico, Faustino

2013-01-01

Bolivia is one of the most endemic countries for Chagas disease. Data of 2005 shows that incidence is around 1.09‰ inhabitants and seroprevalence in children under 15 ranged from 10% in urban areas to 40% in rural areas. In this article, we report results obtained during the implementation of the congenital Chagas program, one of the biggest casuistry in congenital Chagas disease, led by National Program of Chagas and Belgian cooperation from 2004 to 2009. The program strategy was based on serological results during pregnancy and on the follow up of children born from positive mothers until one year old; if positive, treatment was done with Benznidazole, 10 mg/Kg/day/30 days with one post treatment control 6 months later. Throughout the length of the program, a total of 318,479 pregnant women were screened and 23.31% were detected positive. 42,538 children born from positive mothers were analyzed at birth by micromethod, of which 1.43% read positive. 10,120 children returned for their second micromethod control of which 2.29% read positive, 7,650 children returned for the serological control, of which 3.32% turned out positive. From the 1,093 positive children, 70% completed the 30 day-treatment and 122 returned for post treatment control with 96% showing a negative result. It has been seen that maternal-fetal transmission rates vary between 2% and 4%, with an average of 2.6% (about half of previously reported studies that reached 5%). In this work, we show that it is possible to implement, with limited resources, a National Congenital Chagas Program and to integrate it into the Bolivian health system. Keys of success are population awareness, health personnel motivation, and political commitment at all levels. PMID:23875039

Aortic valve prosthesis-patient mismatch and exercise capacity in adult patients with congenital heart disease.

PubMed

van Slooten, Ymkje J; van Melle, Joost P; Freling, Hendrik G; Bouma, Berto J; van Dijk, Arie Pj; Jongbloed, Monique Rm; Post, Martijn C; Sieswerda, Gertjan T; Huis In 't Veld, Anna; Ebels, Tjark; Voors, Adriaan A; Pieper, Petronella G

2016-01-01

To report the prevalence of aortic valve prosthesis-patient mismatch (PPM) in an adult population with congenital heart disease (CHD) and its impact on exercise capacity. Adults with congenital heart disease (ACHD) with a history of aortic valve replacement may outgrow their prosthesis later in life. However, the prevalence and clinical consequences of aortic PPM in ACHD are presently unknown. From the national Dutch Congenital Corvitia (CONCOR) registry, we identified 207 ACHD with an aortic valve prosthesis for this cross-sectional cohort study. Severe PPM was defined as an indexed effective orifice area ≤0.65 cm2/m2 and moderate PPM as an indexed orifice area ≤0.85 cm2/m2 measured using echocardiography. Exercise capacity was reported as percentage of predicted exercise capacity (PPEC). Of the 207 patients, 68% was male, 71% had a mechanical prosthesis and mean age at inclusion was 43.9 years ±11.4. The prevalence of PPM was 42%, comprising 23% severe PPM and 19% moderate PPM. Prevalence of PPM was higher in patients with mechanical prostheses (p<0.001). PPM was associated with poorer exercise capacity (mean PPEC 84% vs. 92%; p=0.048, mean difference =-8.3%, p=0.047). Mean follow-up was 2.6±1.1 years during which New York Heart Association (NYHA) class remained stable in most patients. PPM showed no significant effect on death or hospitalisation during follow-up (p=0.218). In this study we report a high prevalence (42%) of PPM in ACHD with an aortic valve prosthesis and an independent association of PPM with diminished exercise capacity. 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/

Thyroid-related neurological disorders and complications in children.

PubMed

Nandi-Munshi, Debika; Taplin, Craig E

2015-04-01

Thyroid hormones exert critical roles throughout the body and play an important and permissive role in neuroendocrine, neurological, and neuromuscular function. We performed a PubMed search through June 2014 with search terms including "hypothyroidism," "hyperthyroidism," "neurological complications," "neuropathy," "myopathy," "congenital hypothyroidism," and "encephalopathy." Relevant publications reviewed included case series, individual case reports, systematic reviews, retrospective analyses, and randomized controlled trials. The neurological outcomes of congenital hypothyroidism were reviewed, along with the clinical features of associated neuromuscular syndromes of both hypothyroidism and hyperthyroidism, including other autoimmune conditions. Evidence for, and pathophysiological controversies surrounding, Hashimoto encephalopathy was also reviewed. The establishment of widespread newborn screening programs has been highly successful in attenuating or preventing early and irreversible neurological harm resulting from congenital thyroid hormone deficiency, but some children continue to display neuromuscular, sensory, and cognitive defects in later life. Acquired disorders of thyroid function such as Hashimoto thyroiditis and Graves' disease are associated with a spectrum of central nervous system and/or neuromuscular dysfunction. However, considerable variation in clinical phenotype is described, and much of our knowledge of the role of thyroid disease in childhood neurological disorders is derived from adult case series. Early and aggressive normalization of thyroxine levels in newborn infants with congenital hypothyroidism is important in minimizing neurological sequelae, but maternal thyroid hormone sources are also critically important to the early developing brain. A spectrum of neurological disorders has been reported in older children with acquired thyroid disease, but the frequency with which these occur remains poorly defined in the literature, and much must be extrapolated from adult data. A high index of suspicion for acquired thyroid disease is paramount in the investigation of many neurological disorders of youth, as many reported sequelae of hypothyroidism and hyperthyroidism are reversible with appropriate endocrine management. Copyright © 2015 Elsevier Inc. All rights reserved.

Comparison of Newborn Hearing Screening in Well-Baby Nursery and NICU: A Study Applied to Reduce Referral Rate in NICU

PubMed Central

Li, Pei-Chun; Chen, Wei-I; Huang, Chih-Ming; Liu, Ching-Ju; Chang, Hsiu-wen; Lin, Hung-Ching

2016-01-01

Objectives To determine whether newborn hearing screening in a well-baby nursery (WBN) and neonatal intensive care unit (NICU) nursery: 1) meet three targeted, screening, referral, and diagnostic follow-up rates; 2) compare the average age of diagnosis for infants admitted to the WIN and NICU; and 3) determine prevalence of hearing loss in neonatal population; and 4) try to find a practical newborn hearing screening time algorithm to reduce refer rate in NICU Materials and Methods It examined 15,624 newborns in the WBN (13,676) and NICU (1948) screened for congenital HL using AABR. The variables analyzed in it were the screening rate, referral rate, follow-up rate, diagnostic rate and diagnostic age, prevalence rate, degrees of congenital bilateral HL. The study was approved by the hospital’s institutional review board (13MMHISO23). Results The screening rates were 99.8% and 99.6% in the WBN and NICU groups, respectively, without significant difference. The referral rates were 0.7% and 2.8% in the WBN and NICU groups, with significant difference. Furthermore, the diagnostic follow-up rates were 76.7% and 89.1% in the WBN and NICU groups, without significant difference. The average initial diagnostic ages were 1.9 months and 3.8 months in the WBN and NICU groups, with significant difference. The prevalence of congenital bilateral hearing loss were 0.27% and 1.6% in the WBN and NICU groups, with significant difference. Conclusion The screening, referral and follow-up rate in the WBN and NICU groups were equivalent to the quality indicators. For NICU group, screening and diagnostic follow up were performed later than those in WBN group; however the lower referral rate in our NICU group was successfully achieved in this study and can be applied clinically. The prevalence of congenital bilateral hearing loss was higher in the NICU group than in the WBN group. PMID:27023324

Comparison of Newborn Hearing Screening in Well-Baby Nursery and NICU: A Study Applied to Reduce Referral Rate in NICU.

PubMed

Li, Pei-Chun; Chen, Wei-I; Huang, Chih-Ming; Liu, Ching-Ju; Chang, Hsiu-wen; Lin, Hung-Ching

2016-01-01

To determine whether newborn hearing screening in a well-baby nursery (WBN) and neonatal intensive care unit (NICU) nursery: 1) meet three targeted, screening, referral, and diagnostic follow-up rates; 2) compare the average age of diagnosis for infants admitted to the WIN and NICU; and 3) determine prevalence of hearing loss in neonatal population; and 4) try to find a practical newborn hearing screening time algorithm to reduce refer rate in NICU. It examined 15,624 newborns in the WBN (13,676) and NICU (1948) screened for congenital HL using AABR. The variables analyzed in it were the screening rate, referral rate, follow-up rate, diagnostic rate and diagnostic age, prevalence rate, degrees of congenital bilateral HL. The study was approved by the hospital's institutional review board (13MMHISO23). The screening rates were 99.8% and 99.6% in the WBN and NICU groups, respectively, without significant difference. The referral rates were 0.7% and 2.8% in the WBN and NICU groups, with significant difference. Furthermore, the diagnostic follow-up rates were 76.7% and 89.1% in the WBN and NICU groups, without significant difference. The average initial diagnostic ages were 1.9 months and 3.8 months in the WBN and NICU groups, with significant difference. The prevalence of congenital bilateral hearing loss were 0.27% and 1.6% in the WBN and NICU groups, with significant difference. The screening, referral and follow-up rate in the WBN and NICU groups were equivalent to the quality indicators. For NICU group, screening and diagnostic follow up were performed later than those in WBN group; however the lower referral rate in our NICU group was successfully achieved in this study and can be applied clinically. The prevalence of congenital bilateral hearing loss was higher in the NICU group than in the WBN group.

Bridging Knowledge Gaps to Understand How Zika Virus Exposure and Infection Affect Child Development.

PubMed

Kapogiannis, Bill G; Chakhtoura, Nahida; Hazra, Rohan; Spong, Catherine Y

2017-05-01

The Zika virus (ZIKV) epidemic has profoundly affected the lives of children and families across the Americas. As the number of children born with ZIKV-related complications continues to grow, the long-term developmental trajectory for these children and the effect on their families remains largely unknown. In September 2016, the Eunice Kennedy Shriver National Institute of Child Health and Human Development and partner National Institutes of Health institutes convened a workshop to develop a research agenda to improve the evaluation, monitoring, and management of neonates, infants, or children affected by ZIKV and its complications. The agenda also aims to optimally address the prospective effect of ZIKV exposure on the developing child. The full clinical spectrum of congenital ZIKV syndrome has yet to be elucidated. In addition to the well-described anatomic and neurologic manifestations, clinicians are now describing infants with exaggerated primitive reflexes, epilepsy, acquired hydrocephalus and microcephaly, neurodevelopmental delay, gastrointestinal motility problems, and respiratory complications, such as pneumonia. While we are still learning more about the myriad clinical presentations in these severely affected children, it is also paramount to address the larger proportion of ZIKV-exposed infants who are asymptomatic at birth but, we assume, may develop problems later in life. The available evidence for neurologic, neurodevelopmental, neurobehavioral, auditory, and vision assessments and management for infants with congenital ZIKV syndrome was critically evaluated. Lessons from other congenital infections provide valuable clues about the complexities of management and the optimal approaches for evaluating, treating, and caring for the children, which include engaging and involving parents and caregivers in their treatment. Rigorous research is key to improving the identification of ZIKV-infected mothers and babies. Research also is critical to increasing basic understanding of the neuropathogenesis of congenital ZIKV disease and of the spectrum of clinical presentations of ZIKV infection so that agents to prevent and treat this devastating disease can be rapidly developed and studied.

Prenatal Treatment for Serious Neurological Sequelae of Congenital Toxoplasmosis: An Observational Prospective Cohort Study

PubMed Central

Cortina-Borja, Mario; Tan, Hooi Kuan; Wallon, Martine; Paul, Malgorzata; Prusa, Andrea; Buffolano, Wilma; Malm, Gunilla; Salt, Alison; Freeman, Katherine; Petersen, Eskild; Gilbert, Ruth E.

2010-01-01

Background The effectiveness of prenatal treatment to prevent serious neurological sequelae (SNSD) of congenital toxoplasmosis is not known. Methods and Findings Congenital toxoplasmosis was prospectively identified by universal prenatal or neonatal screening in 14 European centres and children were followed for a median of 4 years. We evaluated determinants of postnatal death or SNSD defined by one or more of functional neurological abnormalities, severe bilateral visual impairment, or pregnancy termination for confirmed congenital toxoplasmosis. Two-thirds of the cohort received prenatal treatment (189/293; 65%). 23/293 (8%) fetuses developed SNSD of which nine were pregnancy terminations. Prenatal treatment reduced the risk of SNSD. The odds ratio for prenatal treatment, adjusted for gestational age at maternal seroconversion, was 0.24 (95% Bayesian credible intervals 0.07–0.71). This effect was robust to most sensitivity analyses. The number of infected fetuses needed to be treated to prevent one case of SNSD was three (95% Bayesian credible intervals 2–15) after maternal seroconversion at 10 weeks, and 18 (9–75) at 30 weeks of gestation. Pyrimethamine-sulphonamide treatment did not reduce SNSD compared with spiramycin alone (adjusted odds ratio 0.78, 0.21–2.95). The proportion of live-born infants with intracranial lesions detected postnatally who developed SNSD was 31.0% (17.0%–38.1%). Conclusion The finding that prenatal treatment reduced the risk of SNSD in infected fetuses should be interpreted with caution because of the low number of SNSD cases and uncertainty about the timing of maternal seroconversion. As these are observational data, policy decisions about screening require further evidence from a randomized trial of prenatal screening and from cost-effectiveness analyses that take into account the incidence and prevalence of maternal infection. Please see later in the article for the Editors' Summary PMID:20967235

Missed hepatitis b/c or syphilis diagnosis among Kurdish, Russian, and Somali origin migrants in Finland: linking a population-based survey to the national infectious disease register.

PubMed

Tiittala, Paula; Ristola, Matti; Liitsola, Kirsi; Ollgren, Jukka; Koponen, Päivikki; Surcel, Heljä-Marja; Hiltunen-Back, Eija; Davidkin, Irja; Kivelä, Pia

2018-03-20

Migrants are considered a key population at risk for sexually transmitted and blood-borne diseases in Europe. Prevalence data to support the design of infectious diseases screening protocols are scarce. We aimed to estimate the prevalence of hepatitis B and C, human immunodefiency virus (HIV) infection and syphilis in specific migrant groups in Finland and to assess risk factors for missed diagnosis. A random sample of 3000 Kurdish, Russian, or Somali origin migrants in Finland was invited to a migrant population-based health interview and examination survey during 2010-2012. Participants in the health examination were offered screening for hepatitis B and C, HIV and syphilis. Notification prevalence in the National Infectious Diseases Register (NIDR) was compared between participants and non-participants to assess non-participation. Missed diagnosis was defined as test-positive case in the survey without previous notification in NIDR. Inverse probability weighting was used to correct for non-participation. Altogether 1000 migrants were screened for infectious diseases. No difference in the notification prevalence among participants and non-participants was observed. Seroprevalence of hepatitis B surface antigen (HBsAg) was 2.3%, hepatitis C antibodies 1.7%, and Treponema pallidum antibodies 1.3%. No cases of HIV were identified. Of all test-positive cases, 61% (34/56) had no previous notification in NIDR. 48% of HBsAg, 62.5% of anti-HCV and 84.6% of anti-Trpa positive cases had been missed. Among the Somali population (n = 261), prevalence of missed hepatitis B diagnosis was 3.0%. Of the 324 Russian migrants, 3.0% had not been previously diagnosed with hepatitis C and 2.4% had a missed syphilis diagnosis. In multivariable regression model missed diagnosis was associated with migrant origin, living alone, poor self-perceived health, daily smoking, and previous diagnosis of another blood-borne infection. More than half of chronic hepatitis and syphilis diagnoses had been missed among migrants in Finland. Undiagnosed hepatitis B among Somali migrants implies post-migration transmission that could be prevented by enhanced screening and vaccinations. Rate of missed diagnoses among Russian migrants supports implementation of targeted hepatitis and syphilis screening upon arrival and also in later health care contacts. Coverage and up-take of current screening among migrants should be evaluated.

Nonextraction Treatment of Severe Crowding with the Aid of Corticotomy-Assisted Orthodontics

PubMed Central

Aljhani, Ali S.; Zawawi, Khalid H.

2012-01-01

This paper illustrates the combined nonextraction orthodontic treatment with the corticotomy technique in an adult patient (age: 25 years and 3 months) with severely crowded arches to accelerate tooth movement and shorten the treatment time. Both her upper lateral incisors were congenitally absent and both upper central incisors' roots were short. Initial fixed orthodontic appliances (bidimensional) were bonded and one week later buccal and lingual corticotomy with alveolar augmentation procedure in the maxilla and mandible was performed. Orthodontic activation to level and align and unravel the crowding was performed every two weeks. The total treatment time was 8 months with no adverse effects observed at the end of active treatment. The addition of the decortication procedure to the conventional orthodontic therapy decreased the duration of treatment significantly. Successful alignment of both arches with ideal overbite and overjet as well as adequate occlusion was achieved. PMID:22848854

Osteogenesis Imperfecta Diagnosed from Mandibular and Lower Limb Fractures: A Case Report.

PubMed

Kobayashi, Yoshikazu; Satoh, Koji; Mizutani, Hideki

2016-06-01

Osteogenesis imperfecta (OI) is a congenital disease characterized by bone fragility and low bone mass. Despite the variety of its manifestation and severity, facial fractures occur very infrequently. Here, we report a case of an infant diagnosed with OI after mandibular and lower limb fractures. A boy aged 1 year and 3 months was brought to his neighboring hospital with a complaint of facial injury. He was transferred to our hospital to undergo operation 3 days later. Computed tomography images revealed multiple mandibular fractures including complete fracture in the symphysis and dislocated condylar fracture on the right side. Open reduction and internal fixation with absorbable implants was performed 7 days after injury. He fractured his right lower limb 2 months later. He was diagnosed with OI type IA by an orthopedist. He will be administered bone-modifying agents if he suffers from frequent fractures.

Meta-analysis and systematic review of factors biasing the observed prevalence of congenitally missing teeth in permanent dentition excluding third molars.

PubMed

Rakhshan, Vahid

2013-10-01

No meta-analyses or systematic reviews have been conducted to evaluate numerous potential biasing factors contributing to the controversial results on congenitally missing teeth (CMT). We aimed to perform a rather comprehensive meta-analysis and systematic review on this subject. A thorough search was performed during September 2012 until April 2013 to find the available literature regarding CMT prevalence. Besides qualitatively discussing the literature, the meta-sample homogeneity, publication bias, and the effects of sample type, sample size, minimum and maximum ages of included subjects, gender imbalances, and scientific credit of the publishing journals on the reported CMT prevalence were statistically analyzed using Q-test, Egger regression, Spearman coefficient, Kruskal-Wallis, Welch t test (α=0.05), and Mann-Whitney U test (α=0.016, α=0.007). A total of 111 reports were collected. Metadata were heterogeneous (P=0.000). There was not a significant publication bias (Egger Regression P=0.073). Prevalence rates differed in different types of populations (Kruskal-Wallis P=0.001). Studies on orthodontic patients might report slightly (about 1%) higher prevalence (P=0.009, corrected α=0.016). Non-orthodontic dental patients showed a significant 2% decline [P=0.007 (Mann-Whitney U)]. Enrolling more males in researches might significantly reduce the observed prevalence (Spearman ρ=-0.407, P=0.001). Studies with higher minimums of subjects' age showed always slightly less CMT prevalence. This reached about -1.6% around the ages 10 to 13 and was significant for ages 10 to 12 (Welch t test P<0.05). There seems to be no limit over the maximum age (Welch t test P>0.2). Studies' sample sizes were correlated negatively with CMT prevalence (ρ=-0.250, P=0.009). It was not verified whether higher CMT rates have better chances of being published (ρ=0.132, P=0.177). CMT definition should be unified. Samples should be sex-balanced. Enrolling both orthodontic and dental patients in similar proportions might be preferable over sampling from each of those groups. Sampling from children over 12 years seems advantageous. Two or more observers should examine larger samples to reduce the false negative error tied with such samples.

Multiple compound odontomas in mandible: A rarity

PubMed Central

Vaid, Sanjeev; Ram, Rangeela; Bhardwaj, Vinay Kumar; Chandel, Mohinder; Jhingta, Pravesh; Negi, Nishant; Sharma, Deepak

2012-01-01

Odontomas are benign odontogenic tumors composed of enamel, dentine, and cementum and pulp tissue. They are usually clinically asymptomatic, but often associated with tooth eruption disturbances. The present study reports an unusual case of eleven odontomas in the left lateral incisor-canine region of lower jaw. A 26 years old female presented to the department of orthodontics and dentofacial orthopedics in H.P. Govt. Dental College and Hospital Shimla for the treatment of misaligned teeth. Clinical examination revealed that the lower left lateral incisor was missing. Patient was advised for radiographs, which revealed a mixed radiopaque lesion associated to impacted lower left canine. The histological report in this case indicated a compound odontoma. PMID:23293496

Early Rockets

NASA Image and Video Library

1958-05-28

On May 28, 1958, Jupiter Intermediate Range Ballistic Missile provided by U.S. Army team in Huntsville, Alabama, launched a nose cone carrying Baker, a South American squirrel monkey and Able, an American-born rhesus monkey. Baker, pictured here and commonly known as "Miss Baker", was later given a home at the U.S. Space and Rocket Center until her death on November 29, 1984. Able died in 1958. (Photo - Courtesy of Huntsville/Madison County Public Library)

Montana School Nutrition Programs Free and Reduced Price Participation Data, 2003-04 School Year

ERIC Educational Resources Information Center

McCulloch, Linda

2004-01-01

This report provides a count of all students in Montana public and nonpublic schools who are eligible to receive free and reduced price benefits for meals and milk. Because the data presented in this report are frozen on December 31, there may be missing values as well as late corrections for a given year because data came in later than that date.

Daddy's Girl: Kurt Kondrich Gave Up His Career as a Police Officer to Fight for Children with Disabilities

ERIC Educational Resources Information Center

Henderson, Nancy

2010-01-01

A take-charge "people person," Kurt Kondrich began his career in law enforcement in 1985, when he graduated with a criminology degree and landed a job with the Atlanta Police Department. Six years later, he became deputy sheriff in Fort Meyers, Florida, but missed his family in Pittsburgh. So in 1993, when he heard that his hometown police…

Phonation takes precedence over articulation in development as well as evolution of language.

PubMed

Oller, D Kimbrough

2014-12-01

Early human vocal development is characterized first by emerging control of phonation and later by prosodic and supraglottal articulation. The target article has missed the opportunity to use these facts in the characterization of evolution in language-specific brain mechanisms. Phonation appears to be the initial human-specific brain change for language, and it was presumably a key target of selection in early hominin evolution.

Adult onset of the Dandy-Walker syndrome.

PubMed

Lipton, H L; Preziosi, T J; Moses, H

1978-10-01

Two patients with the Dandy-Walker malformation first developed neurologic symptoms in adult life. In both patients there was normal motor and intellectual development during childhood, but as adults they had gradual evolution of brain stem and cerebellar signs and obstructive hydrocephalus. Following resection of the fourth ventricular cyst, both patients recovered. A review of the literature disclosed seven additional patients in whom the Dandy-Walker syndrome was first diagnosed in adult life. These cases illustrate that this congenital brain malformation may not only first become symptomatic later in life, but that it is possible for patients to remain asymptomatic.

Recurrent Hyperammonemia After Abernethy Malformation Type 2 Closure: a Case Report.

PubMed

Li, Hui; Ma, Zhi; Xie, Ying; Tian, Feng

The Abernethy malformation is a rare congenital malformation defined by the presence of an extrahepatic portosystemic shunt. Although most patients are asymptomatic, clinical encephalopathy is present in 15% of cases. We present a patient with type 2 Abernethy malformation, hyperammonemia, and encephalopathy. Shunt closure was performed successfully using interventional angiography; however, hyperammonemia recurred 3 months later. The diagnosis of Abernethy malformation can be made easily, but the ideal patient management strategy has not yet been established. This is the first reported patient with recurrence of hyperammonemia after interventional treatment; we discuss the therapeutic options for Abernethy malformation.

Prenatal diagnosis of left isomerism with normal heart: a case report

PubMed Central

De Paola, Nico; Ermito, Santina; Nahom, Antonella; Dinatale, Angela; Pappalardo, Elisa Maria; Carrara, Sabina; Cavaliere, Alessandro; Brizzi, Cristiana

2009-01-01

Objective: Left isomerism, also called polysplenia, is a laterality disturbance associated with with paired leftsidedness viscera and multiple small spleens. Left isomerism, heart congenital abnormalities and gastrointestinal malformation are strongly associated. Methods: We present a case of prenatal diagnosis of left isomerism in a fetus with a structurally normal heart. Conclusion: Left isomerism syndrone may coesist with a structurally normal heart. If prenatal left isomerism is suspected, even in presence of a normal heart, is mandatory to esclude sign of gastrointestinal abnormalities, as late poly hy dramnios, and cardiac rhytm disturbance during the pregnancy and neonatal age. PMID:22439041

A Smart Unconscious? Procedural Origins of Automatic Partner Attitudes in Marriage

PubMed Central

Murray, Sandra L.; Holmes, John G.; Pinkus, Rebecca T.

2010-01-01

The paper examines potential origins of automatic (i.e., unconscious) attitudes toward one’s marital partner. It tests the hypothesis that early experiences in conflict-of-interest situations predict one’s later automatic inclination to approach (or avoid) the partner. A longitudinal study linked daily experiences in conflict-of-interest situations in the initial months of new marriages to automatic evaluations of the partner assessed four years later using the Implicit Associations Test. The results revealed that partners who were initially (1) treated less responsively and (2) evidenced more self-protective and less connectedness-promoting “if-then” contingencies in their thoughts and behavior later evidenced less positive automatic partner attitudes. However, these factors did not predict changes in love, satisfaction, or explicit beliefs about the partner. The findings hint at the existence of a “smart” relationship unconscious that captures behavioral realities conscious reflection can miss. PMID:20526450

Foot fractures frequently misdiagnosed as ankle sprains.

PubMed

Judd, Daniel B; Kim, David H

2002-09-01

Most ankle injuries are straightforward ligamentous injuries. However, the clinical presentation of subtle fractures can be similar to that of ankle sprains, and these fractures are frequently missed on initial examination. Fractures of the talar dome may be medial or lateral, and they are usually the result of inversion injuries, although medial injuries may be atraumatic. Lateral talar process fractures are characterized by point tenderness over the lateral process. Posterior talar process fractures are often associated with tenderness to deep palpation anterior to the Achilles tendon over the posterolateral talus, and plantar flexion may exacerbate the pain. These fractures can often be managed nonsurgically with nonweight-bearing status and a short leg cast worn for approximately four weeks. Delays in treatment can result in long-term disability and surgery. Computed tomographic scans or magnetic resonance imaging may be required because these fractures are difficult to detect on plain films.

Endoscopic transpterygoid approach and skull base repair after sphenoid meningoencephalocele resection. Our experience.

PubMed

Martínez Arias, Àngels; Bernal-Sprekelsen, Manuel; Rioja, Elena; Enseñat, Joaquim; Prats-Galino, Alberto; Alobid, Isam

2015-01-01

Cerebrospinal fluid leaks associated to meningoencephaloceles of the sphenoid lateral recess are rare entities. A congenital bony defect at this level results in the persistence of Sternberg's canal, or a lateral craniopharyngeal canal, which is supposed to be the origin of these lesions. Our objective was to show that the endoscopic transpterygoid approach is an effective technique for their treatment. We present a series of 5 cases of meningoencephaloceles of the sphenoid lateral recess treated with endoscopic sinus surgery (4 women and one man; mean age=59, range 37-72 years). Cerebrospinal fluid rhinorrhoea was present in all of them and they all underwent a transpterygoid approach with reconstruction of the skull base. We describe the surgical technique and review the literature. No complications were observed during surgery or the postoperative period. After a mean follow-up of 81 months, only one recurrence was seen. The transpterygoid approach has proven to be effective for the treatment of meningoencephaloceles of the sphenoid lateral recess. Providing wide access to identify the defect, followed by meningoencephalocele ablation, is the key for successful surgery. Copyright © 2014 Elsevier España, S.L.U. y Sociedad Española de Otorrinolaringología y Patología Cérvico-Facial. All rights reserved.

Reliability of magnetic resonance imaging in evaluating meniscal and cartilage injuries in anterior cruciate ligament-deficient knees.

PubMed

Wong, Kenneth Pak Leung; Han, Audrey XinYun; Wong, Jeannie Leh Ying; Lee, Dave Yee Han

2017-02-01

The accuracy of magnetic resonance (MR) imaging in assessing meniscal and cartilage injuries in anterior cruciate ligament (ACL)-deficient knees as compared to arthroscopy was evaluated in the present study. The results of all preoperative MR imaging performed within 3 months prior to the ACL reconstruction were compared against intraoperative arthroscopic findings. A total of 206 patients were identified. The location and type of meniscal injuries as well as the location and grade of the cartilage injuries were studied. The negative predictive value, positive predictive value, sensitivity, specificity and accuracy of MR imaging for these 206 cases were calculated and analysed. In patients with an ACL injury, the highest incidence of concomitant injury was that of medial meniscus tears, 124 (60.2 %), followed by lateral meniscus tears, 105 (51.0 %), and cartilage injuries, 66 (32.0 %). Twenty-three (11.2 %) patients sustained injuries to all of the previously named structures. MR imaging was most accurate in detecting medial meniscus tears (85.9 %). MR imaging for medial meniscus tears also had the highest sensitivity (88.0 %) and positive predictive value (88.7 %), while MR imaging for cartilage injuries had the largest specificity (84.1 %) and negative predictive value (87.1 %). It was least accurate in evaluating lateral meniscus tears (74.3 %). The diagnostic accuracy of medial meniscus imaging is significantly influenced by age and the presence of lateral meniscus tears, while the duration between MR imaging and surgery has greater impact on the likelihood of lateral meniscus and cartilage injuries actually being present during surgery. The majority of meniscus tears missed by MR imaging affected the posterior horn and were complex in nature. Cartilage injuries affecting the medial femoral condyle or medial patella facet were also often missed by MR imaging. MR imaging remains a reliable tool for assessing meniscus tears and cartilage defects preoperatively. It is most accurate when evaluating medial meniscus tears. However, MR imaging should be used with discretion especially if there is a high index of suspicion of lateral meniscus tears. IV.

Canine substitution for missing maxillary lateral incisors: the influence of canine morphology, size, and shade on perceptions of smile attractiveness.

PubMed

Brough, Elaine; Donaldson, Ana Nora; Naini, Farhad B

2010-12-01

This study was conducted to determine whether variations in the morphology, size, or shade of maxillary canines would influence perceptions of smile attractiveness in patients with canines substituted for missing maxillary lateral incisors. A smiling photograph of a hypodontia patient who had had orthodontic space closure with maxillary canines replacing the lateral incisors was digitally modified to create a bilaterally symmetrical image. Four groups of images were created, digitally altering canine gingival height, crown tip height, canine width, and canine shade. Three groups of judges (40 orthodontists, 40 dentists, and 40 laypeople) ranked the images for smile attractiveness, also scoring the most and the least attractive of each of the 4 groups, and the most and least attractive of all images. Canine gingival height was the most attractive 0.5 mm below the gingival margin of the maxillary central incisor and progressively less attractive with increasing gingival height. Increasing canine width, increased canine tip height, and pointed canines were perceived to be unattractive. Brighter than normal shades of canines were preferred to darker shades. Narrow canine crowns were most frequently ranked as the most attractive overall, 1.5 mm narrower was preferred by the orthodontists and dentists, and 3.0 mm narrower was preferred by the laypeople. All 3 groups ranked the darkest image, 20 times darker than the original, most frequently as the least attractive image overall. There was good general agreement between orthodontists, dentists, and laypeople for all 4 parameters of smile attractiveness, although laypeople demonstrated greater intragroup variations. The morphology, size, and shade of the maxillary canine in patients having orthodontic space closure and lateral incisor substitution can have a marked effect on perceived smile attractiveness. Copyright © 2010 American Association of Orthodontists. Published by Mosby, Inc. All rights reserved.

A review of Savant Syndrome and its possible relationship to epilepsy.

PubMed

Hughes, John R

2010-02-01

The goal of this article is to review Savant Syndrome, characterized by outstanding islands of mental ability in otherwise handicapped individuals. Two forms exist: the congenital form and the acquired form. Among the many examples of the congenital form are the calendar calculators, who can quickly provide the day of the week for any date in the past; the musical savants, who have perfect pitch; and the hyperlexics, who (in one case) can read a page in 8s and recall the text later at a 99% level. Other types of talents and artistic skills involving three-dimensional drawing, map memory, poetry, painting, and sculpturing are also observed. One savant could recite without error the value of Pi to 22,514 places. Persons with the acquired form develop outstanding skills after brain injury or disease, usually involving the left frontotemporal area. This type of injury seems to inhibit the "tyranny of the left hemisphere," allowing the right hemisphere to develop the savant skills. Another way to inhibit the left frontotemporal area is to use transcranial magnetic stimulation in normal subjects; nearly one-half of these subjects can then perform new skills during the stimulation that they could not perform before. This type of finding indicates the potential in all of us for the development of savant skills in special circumstances. Explanations of congenital Savant Syndrome include enhanced local connectivity as a compensation for underconnectivity of long-range fibers, but also weak central coherence, replaced by great attention to detail, enhanced perceptual functioning, and obsessive preoccupation with specific interests. (c) 2009 Elsevier Inc. All rights reserved.

Syringomyelia following surgery for a spontaneous spinal subdural hematoma in a 13-year-old girl with congenital von Willebrand disease: case report and literature review.

PubMed

Ben Nsir, A; Boubaker, A; Jemel, H

2016-04-01

Spontaneous spinal subdural hematomas are rare. Their occurrence in a child with congenital von Willebrand disease and the complication of their surgery by a large secondary syringomyelia have never been previously reported. A 13-year-old girl with congenital von Willebrand disease presented to our emergency department in January 2011 for sudden onset of severe back pain centered in her thoracic spine rapidly aggravated by signs of acute myelopathy without any precipitating factor. MRI scan revealed a thoracic subdural collection anterior to the spinal cord at the T7-T9 level, hyperintense on T1- and T2-weighted sequences consistent with an acute spinal subdural hemorrhage. Evacuation of the subdural hematoma was realized immediately after hemostasis parameter correction, and post-operative course was uneventful with full functional recovery. One year later, the patient presented once again but with progressive and more severe myelopathy caused by a large syringomyelia extending from the T5 level to the conus medullaris. A syringopleural shunting was performed and the patient was unrolled under an intensive care and rehabilitation program. Her condition remarkably improved and she became able to walk independently within 2 weeks post-operatively. von Willebrand disease should be included as a possible factor of spontaneous spinal subdural hemorrhage. Surgery is advised in emergency and can be associated with remarkable recovery especially in children. Delayed syringomyelia can complicate the post-operative course and can be successfully addressed by syringopleural shunting. Long-term clinical and radiological follow-up is advocated.

22q11.2 deletion syndrome

PubMed Central

McDonald-McGinn, Donna M.; Sullivan, Kathleen E.; Marino, Bruno; Philip, Nicole; Swillen, Ann; Vorstman, Jacob A. S.; Zackai, Elaine H.; Emanuel, Beverly S.; Vermeesch, Joris R.; Morrow, Bernice E.; Scambler, Peter J.; Bassett, Anne S.

2016-01-01

22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder, estimated to result mainly from de novo non-homologous meiotic recombination events occurring in approximately 1 in every 1,000 fetuses. The first description in the English language of the constellation of findings now known to be due to this chromosomal difference was made in the 1960s in children with DiGeorge syndrome, who presented with the clinical triad of immunodeficiency, hypoparathyroidism and congenital heart disease. The syndrome is now known to have a heterogeneous presentation that includes multiple additional congenital anomalies and later-onset conditions, such as palatal, gastrointestinal and renal abnormalities, autoimmune disease, variable cognitive delays, behavioural phenotypes and psychiatric illness — all far extending the original description of DiGeorge syndrome. Management requires a multidisciplinary approach involving paediatrics, general medicine, surgery, psychiatry, psychology, interventional therapies (physical, occupational, speech, language and behavioural) and genetic counselling. Although common, lack of recognition of the condition and/or lack of familiarity with genetic testing methods, together with the wide variability of clinical presentation, delays diagnosis. Early diagnosis, preferably prenatally or neonatally, could improve outcomes, thus stressing the importance of universal screening. Equally important, 22q11.2DS has become a model for understanding rare and frequent congenital anomalies, medical conditions, psychiatric and developmental disorders, and may provide a platform to better understand these disorders while affording opportunities for translational strategies across the lifespan for both patients with 22q11.2DS and those with these associated features in the general population. PMID:27189754

Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects.

PubMed

Cowan, Jason R; Tariq, Muhammad; Shaw, Chad; Rao, Mitchell; Belmont, John W; Lalani, Seema R; Smolarek, Teresa A; Ware, Stephanie M

2016-12-19

Genomic disorders and rare copy number abnormalities are identified in 15-25% of patients with syndromic conditions, but their prevalence in individuals with isolated birth defects is less clear. A spectrum of congenital heart defects (CHDs) is seen in heterotaxy, a highly heritable and genetically heterogeneous multiple congenital anomaly syndrome resulting from failure to properly establish left-right (L-R) organ asymmetry during early embryonic development. To identify novel genetic causes of heterotaxy, we analysed copy number variants (CNVs) in 225 patients with heterotaxy and heterotaxy-spectrum CHDs using array-based genotyping methods. Clinically relevant CNVs were identified in approximately 20% of patients and encompassed both known and putative heterotaxy genes. Patients were carefully phenotyped, revealing a significant association of abdominal situs inversus with pathogenic or likely pathogenic CNVs, while d-transposition of the great arteries was more frequently associated with common CNVs. Identified cytogenetic abnormalities ranged from large unbalanced translocations to smaller, kilobase-scale CNVs, including a rare, single exon deletion in ZIC3, a gene known to cause X-linked heterotaxy. Morpholino loss-of-function experiments in Xenopus support a role for one of these novel candidates, the platelet isoform of phosphofructokinase-1 (PFKP) in heterotaxy. Collectively, our results confirm a high CNV yield for array-based testing in patients with heterotaxy, and support use of CNV analysis for identification of novel biological processes relevant to human laterality.This article is part of the themed issue 'Provocative questions in left-right asymmetry'. © 2016 The Author(s).

Blood flow patterns underlie developmental heart defects

PubMed Central

Midgett, Madeline; Thornburg, Kent

2017-01-01

Although cardiac malformations at birth are typically associated with genetic anomalies, blood flow dynamics also play a crucial role in heart formation. However, the relationship between blood flow patterns in the early embryo and later cardiovascular malformation has not been determined. We used the chicken embryo model to quantify the extent to which anomalous blood flow patterns predict cardiac defects that resemble those in humans and found that restricting either the inflow to the heart or the outflow led to reproducible abnormalities with a dose-response type relationship between blood flow stimuli and the expression of cardiac phenotypes. Constricting the outflow tract by 10–35% led predominantly to ventricular septal defects, whereas constricting by 35–60% most often led to double outlet right ventricle. Ligation of the vitelline vein caused mostly pharyngeal arch artery malformations. We show that both cardiac inflow reduction and graded outflow constriction strongly influence the development of specific and persistent abnormal cardiac structure and function. Moreover, the hemodynamic-associated cardiac defects recapitulate those caused by genetic disorders. Thus our data demonstrate the importance of investigating embryonic blood flow conditions to understand the root causes of congenital heart disease as a prerequisite to future prevention and treatment. NEW & NOTEWORTHY Congenital heart defects result from genetic anomalies, teratogen exposure, and altered blood flow during embryonic development. We show here a novel “dose-response” type relationship between the level of blood flow alteration and manifestation of specific cardiac phenotypes. We speculate that abnormal blood flow may frequently underlie congenital heart defects. PMID:28062416

Meta-analysis and systematic review of the number of non-syndromic congenitally missing permanent teeth per affected individual and its influencing factors

PubMed Central

Rakhshan, Hamid

2016-01-01

Summary Background and purpose: Dental aplasia (or hypodontia) is a frequent and challenging anomaly and thus of interest to many dental fields. Although the number of missing teeth (NMT) in each person is a major clinical determinant of treatment need, there is no meta-analysis on this subject. Therefore, we aimed to investigate the relevant literature, including epidemiological studies and research on dental/orthodontic patients. Methods: Among 50 reports, the effects of ethnicities, regions, sample sizes/types, subjects’ minimum ages, journals’ scientific credit, publication year, and gender composition of samples on the number of missing permanent teeth (except the third molars) per person were statistically analysed (α = 0.05, 0.025, 0.01). Limitations: The inclusion of small studies and second-hand information might reduce the reliability. Nevertheless, these strategies increased the meta-sample size and favoured the generalisability. Moreover, data weighting was carried out to account for the effect of study sizes/precisions. Results: The NMT per affected person was 1.675 [95% confidence interval (CI) = 1.621–1.728], 1.987 (95% CI = 1.949–2.024), and 1.893 (95% CI = 1.864–1.923), in randomly selected subjects, dental/orthodontic patients, and both groups combined, respectively. The effects of ethnicities (P > 0.9), continents (P > 0.3), and time (adjusting for the population type, P = 0.7) were not significant. Dental/orthodontic patients exhibited a significantly greater NMT compared to randomly selected subjects (P < 0.012). Larger samples (P = 0.000) and enrolling younger individuals (P = 0.000) might inflate the observed NMT per person. Conclusions: Time, ethnic backgrounds, and continents seem unlikely influencing factors. Subjects younger than 13 years should be excluded. Larger samples should be investigated by more observers. PMID:25840586

A prospective study of basal insulin concentrations in dogs with congenital portosystemic shunts.

PubMed

Collings, A J; Gow, A G; Marques, A; Yool, D; Furneaux, R; Mellanby, R; Watson, P J

2012-04-01

Hypoglycaemia is a common cause of morbidity in dogs with congenital portosystemic shunts but the aetiology is unknown. The hypothesis of this study was that dogs with congenital portosystemic shunts would have significantly higher insulin concentrations than dogs without congenital portosystemic shunts. The main objective of the study was to compare peripheral glucose and insulin concentrations between dogs with congenital portosystemic shunts and dogs without congenital portosystemic shunts. Peripheral serum insulin and plasma glucose concentrations were measured in dogs with congenital portosystemic shunts and without congenital portosystemic shunts and compared both between groups as well as to reference intervals derived from healthy dogs. Congenital portosystemic shunts were diagnosed in 41 dogs. Forty-eight dogs hospitalised with other conditions acted as controls. Serum insulin concentrations were mildly elevated (Ä40 μU/mL) in seven dogs and were markedly elevated in two dogs with congenital portosystemic shunts, yet mild hypoglycaemia (3·3 mmol/L) was detected in only one of these dogs. Four dogs with congenital portosystemic shunts showed fasting hypoglycaemia, yet insulin concentrations were within or below the reference interval in three. There was no difference between the median insulin concentration of dogs with congenital portosystemic shunts and without congenital portosystemic shunts. Hyperinsulinaemia is infrequently observed in dogs with congenital portosystemic shunts. The aetiology of hypoglycaemia in dogs with congenital portosystemic shunts merits further investigation. © 2012 British Small Animal Veterinary Association.

Hypomelanosis of Ito presenting with pediatric orthopedic issues: a case report.

PubMed

Trägårdh, Malene; Thomsen, Christine Rohr; Thorninger, Rikke; Møller-Madsen, Bjarne

2014-05-19

Hypomelanosis of Ito was originally described as a purely cutaneous disease. Extracutaneous manifestations were described later, forming a neurocutaneous syndrome including skeletal, muscular, ocular and central nervous system symptoms.Hypomelanosis of Ito is characterized by a depigmentation along the lines of Blaschko on the trunk and extremities in certain patterns.The aim of this article was to report another case and give an overview of the related orthopedic symptoms that have been previously described. It was also our wish to contribute with recommendations for consideration with regard to bandages on eczematous rashes, especially on clubfeet. A one-and-a-half-month-old boy of Caucasian background born with talipes equinovarus, or clubfoot, on his right foot presented with an eczematous rash after surgical correction and plaster bandaging. It is the appearance of hypopigmentation, either alone or in combination with a congenital malformation, particularly central nervous system or musculoskeletal anomalies, which should form the basis of a presumptive diagnosis. This should then lead to further investigations and should always include skin biopsies and a test for chromosomal mosaicism.We report the case of a boy with a clinical picture consisting of a depigmented skin pattern, mental retardation, pes cavus, talipes equinovarus, clinodactyly, eczema, inverted cilia of the eye, strabismus, reduced hearing, ventral hernia, glomerulonephritis, missing testicles, leg length discrepancy with scoliosis, back pain and a syrinx.It is perhaps impossible to make any conclusions about extracutaneous symptoms. However, some symptoms such as retardation, cramps and seizures, delayed development and hypotonia cannot be ignored.Because of the possibility of creating an undesirable and long postoperative period with complications, it is very important to have this diagnosis in mind when deciding to do surgery or not if there are signs of dermatological problems before surgery. In this case, it could also be good clinical practice to test the patient's reaction to plaster or other bandages.

Initial Field Test of a Cloud-Based Cardiac Auscultation System to Determine Murmur Etiology in Rural China.

PubMed

Pyles, Lee; Hemmati, Pouya; Pan, J; Yu, Xiaoju; Liu, Ke; Wang, Jing; Tsakistos, Andreas; Zheleva, Bistra; Shao, Weiguang; Ni, Quan

2017-04-01

A system for collection, distribution, and long distant, asynchronous interpretation of cardiac auscultation has been developed and field-tested in rural China. We initiated a proof-of-concept test as a critical component of design of a system to allow rural physicians with little experience in evaluation of congenital heart disease (CHD) to obtain assistance in diagnosis and management of children with significant heart disease. The project tested the hypothesis that acceptable screening of heart murmurs could be accomplished using a digital stethoscope and internet cloud transmittal to deliver phonocardiograms to an experienced observer. Of the 7993 children who underwent school-based screening in the Menghai District of Yunnan Province, Peoples Republic of China, 149 had a murmur noted by a screener. They had digital heart sounds and phonocardiograms collected with the HeartLink tele auscultation system, and underwent echocardiography by a cardiology resident from the First Affiliated Hospital of Kunming Medical University. The digital phonocardiograms, stored on a cloud server, were later remotely reviewed by a board-certified American pediatric cardiologist. Fourteen of these subjects were found to have CHD confirmed by echocardiogram. Using the HeartLink system, the pediatric cardiologist identified 11 of the 14 subjects with pathological murmurs, and missed three subjects with atrial septal defects, which were incorrectly identified as venous hum or Still's murmur. In addition, ten subjects were recorded as having pathological murmurs, when no CHD was confirmed by echocardiography during the field study. The overall test accuracy was 91% with 78.5% sensitivity and 92.6% specificity. This proof-of-concept study demonstrated the feasibility of differentiating pathologic murmurs due to CHD from normal functional heart murmurs with the HeartLink system. This field study is an initial step to develop a cost-effective CHD screening strategy in low-resource settings with a shortage of trained medical professionals and pediatric heart programs.

SU-C-BRD-05: Implementation of Incident Learning in the Safety and Quality Management of Radiotherapy: The Primary Experience in a New Established Program with Advanced Techniques

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

Yang, R; Wang, J

2014-06-15

Purpose: To explore the implementation and effectiveness of incident learning for the safety and quality of radiotherapy in a new established radiotherapy program with advanced technology. Methods: Reference to the consensus recommendations by American Association of Physicist in Medicine, an incident learning system was specifically designed for reporting, investigating, and learning of individual radiotherapy incidents in a new established radiotherapy program, with 4D CBCT, Ultrasound guided radiotherapy, VMAT, gated treatment delivered on two new installed linacs. The incidents occurring in external beam radiotherapy from February, 2012 to January, 2014 were reported. Results: A total of 33 reports were analyzed, includingmore » 28 near misses and 5 incidents. Among them, 5 originated in imaging for planning, 25 in planning, 1 in plan transfer, 1 in commissioning and 1 in treatment delivery. Among them, three near misses originated in the safety barrier of the radiotherapy process. In terms of error type, 1 incident was classified as wrong patient, 7 near misses/incidents as wrong site, 6 as wrong laterality, 5 as wrong dose, 7 as wrong prescription, and 7 as suboptimal plan quality. 5 incidents were all classified as grade 1/2 of dosimetric severity, 1 as grade 0, and the other 4 as grade 1 of medical severity. For the causes/contributory factors, negligence, policy not followed, inadequate training, failure to develop an effective plan, and communication contributed to 19, 15, 12, 5 and 3 near misses/incidents, respectively. The average incident rate per 100 patients treated was 0.4; this rate fell to 0.28% in the second year from 0.56% in the first year. The rate of near miss fell to 1.24% from 2.22%. Conclusion: Effective incident learning can reduce the occurrence of near miss/incidents, enhance the culture of safety. Incident learning is an effective proactive method for improving the quality and safety of radiotherapy.« less

Ancient sedimentary structures in the <3.7 Ga Gillespie Lake Member, Mars, that resemble macroscopic morphology, spatial associations, and temporal succession in terrestrial microbialites.

PubMed

Noffke, Nora

2015-02-01

Sandstone beds of the <3.7 Ga Gillespie Lake Member on Mars have been interpreted as evidence of an ancient playa lake environment. On Earth, such environments have been sites of colonization by microbial mats from the early Archean to the present time. Terrestrial microbial mats in playa lake environments form microbialites known as microbially induced sedimentary structures (MISS). On Mars, three lithofacies of the Gillespie Lake Member sandstone display centimeter- to meter-scale structures similar in macroscopic morphology to terrestrial MISS that include "erosional remnants and pockets," "mat chips," "roll-ups," "desiccation cracks," and "gas domes." The microbially induced sedimentary-like structures identified in Curiosity rover mission images do not have a random distribution. Rather, they were found to be arranged in spatial associations and temporal successions that indicate they changed over time. On Earth, if such MISS occurred with this type of spatial association and temporal succession, they would be interpreted as having recorded the growth of a microbially dominated ecosystem that thrived in pools that later dried completely: erosional pockets, mat chips, and roll-ups resulted from water eroding an ancient microbial mat-covered sedimentary surface; during the course of subsequent water recess, channels would have cut deep into the microbial mats, leaving erosional remnants behind; desiccation cracks and gas domes would have occurred during a final period of subaerial exposure of the microbial mats. In this paper, the similarities of the macroscopic morphologies, spatial associations, and temporal succession of sedimentary structures on Mars to MISS preserved on Earth has led to the following hypothesis: The sedimentary structures in the <3.7 Ga Gillespie Lake Member on Mars are ancient MISS produced by interactions between microbial mats and their environment. Proposed here is a strategy for detecting, identifying, confirming, and differentiating possible MISS during current and future Mars missions.

Hair band retained prosthetic reconstruction of bilaterally missing ears: a case of congenital atresia of external auditory canals and pinna.

PubMed

Minati, C; Shanmuganathan, N; Jain, Bhakti S; Padmanabhan, T V

2014-01-01

Auricular defects present reconstructive challenges, especially if they are bilateral. Surgical reconstruction provides effective results for defects; however for some patients surgical intervention is contraindicated. This case report describes an easy clinical technique to rehabilitate a patient with auricular defects. The prime purpose of this treatment rendered was to restore the lost auricular structure to the patient's satisfaction in an elegant, comfortable and cost effective manner. A thirteen year old female patient, who had bilaterally missing ears, was referred with a chief complaint of discomfort caused due to her existing hair band prosthesis and unsatisfactory esthetics. There was constant formation of ulcers at the site where the prosthesis came in contact with the skin. Considering the patient's age, ease of use and economic status, hair band retained ear prosthesis was selected. Silicone ear prostheses were fabricated on acrylic substructure to ensure fit, esthetics. Beneath the acrylic plates, a thin layer of soft silicone material was attached. The ear prostheses of both sides were connected with a metal hair band to retain. The newly fabricated prosthesis overcame the limitations of the existing one. The patient and her parents were satisfied with the results. The hair band retained silicone ear prosthesis is esthetic, economical and easy to use as a facial prosthesis. The addition of soft liner provided a cushion-like effect, thus reducing the formation of any ulcers due to pressure. Copyright © 2013 Japan Prosthodontic Society. Published by Elsevier Ltd. All rights reserved.

EEG and Eye Tracking Signatures of Target Encoding during Structured Visual Search

PubMed Central

Brouwer, Anne-Marie; Hogervorst, Maarten A.; Oudejans, Bob; Ries, Anthony J.; Touryan, Jonathan

2017-01-01

EEG and eye tracking variables are potential sources of information about the underlying processes of target detection and storage during visual search. Fixation duration, pupil size and event related potentials (ERPs) locked to the onset of fixation or saccade (saccade-related potentials, SRPs) have been reported to differ dependent on whether a target or a non-target is currently fixated. Here we focus on the question of whether these variables also differ between targets that are subsequently reported (hits) and targets that are not (misses). Observers were asked to scan 15 locations that were consecutively highlighted for 1 s in pseudo-random order. Highlighted locations displayed either a target or a non-target stimulus with two, three or four targets per trial. After scanning, participants indicated which locations had displayed a target. To induce memory encoding failures, participants concurrently performed an aurally presented math task (high load condition). In a low load condition, participants ignored the math task. As expected, more targets were missed in the high compared with the low load condition. For both conditions, eye tracking features distinguished better between hits and misses than between targets and non-targets (with larger pupil size and shorter fixations for missed compared with correctly encoded targets). In contrast, SRP features distinguished better between targets and non-targets than between hits and misses (with average SRPs showing larger P300 waveforms for targets than for non-targets). Single trial classification results were consistent with these averages. This work suggests complementary contributions of eye and EEG measures in potential applications to support search and detect tasks. SRPs may be useful to monitor what objects are relevant to an observer, and eye variables may indicate whether the observer should be reminded of them later. PMID:28559807

Clinical Tumor Dimensions May Be Useful to Prevent Geographic Miss in Conventional Radiotherapy of Uterine Cervix Cancer-A Magnetic Resonance Imaging-Based Study

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

Justino, Pitagoras Baskara; Baroni, Ronaldo; Blasbalg, Roberto

2009-06-01

Purpose: To evaluate the risk of geographic miss associated with the classic four-field 'box' irradiation technique and to define the variables that predict this risk. Materials and Methods: The study population consisted of 80 patients with uterine cervix cancer seen between 2001 and 2006. Median age was 55 years (23-82 years), and 72 (90%) presented with squamous cell carcinoma. Most patients (68.7%) presented with locally advanced disease (IIb or more). Magnetic resonance imaging findings from before treatment were compared with findings from simulation of the conventional four-field 'box' technique done with rectal contrast. Study variables included tumor volume; involvement ofmore » vagina, parametrium, bladder, or rectum; posterior displacement of the anterior rectal wall; and tumor anteroposterior diameter (APD). Margins were considered adequate when the target volume (primary tumor extension, whole uterine body, and parametrium) was included within the field limits and were at least 1 cm in width. Results: Field limits were inadequate in 45 (56%) patients: 29 (36%) patients at the anterior and 28 (35%) at the posterior border of the lateral fields. Of these, 12 patients had both anterior and posterior miss, and this risk was observed in all stages of the disease (p = 0.076). Posterior displacement of the anterior rectal wall beyond S2-S3 was significantly correlated with the risk of geographic miss (p = 0.043). Larger tumors (APD 6 cm or above and volume above 50 cm{sup 3}) were also significantly correlated with this risk (p = 0.004 and p = 0.046, respectively). Conclusions: Posterior displacement of the anterior rectal wall, tumor APD, and volume can be used as guidance in evaluating the risk of geographic miss.« less

Reuse of imputed data in microarray analysis increases imputation efficiency

PubMed Central

Kim, Ki-Yeol; Kim, Byoung-Jin; Yi, Gwan-Su

2004-01-01

Background The imputation of missing values is necessary for the efficient use of DNA microarray data, because many clustering algorithms and some statistical analysis require a complete data set. A few imputation methods for DNA microarray data have been introduced, but the efficiency of the methods was low and the validity of imputed values in these methods had not been fully checked. Results We developed a new cluster-based imputation method called sequential K-nearest neighbor (SKNN) method. This imputes the missing values sequentially from the gene having least missing values, and uses the imputed values for the later imputation. Although it uses the imputed values, the efficiency of this new method is greatly improved in its accuracy and computational complexity over the conventional KNN-based method and other methods based on maximum likelihood estimation. The performance of SKNN was in particular higher than other imputation methods for the data with high missing rates and large number of experiments. Application of Expectation Maximization (EM) to the SKNN method improved the accuracy, but increased computational time proportional to the number of iterations. The Multiple Imputation (MI) method, which is well known but not applied previously to microarray data, showed a similarly high accuracy as the SKNN method, with slightly higher dependency on the types of data sets. Conclusions Sequential reuse of imputed data in KNN-based imputation greatly increases the efficiency of imputation. The SKNN method should be practically useful to save the data of some microarray experiments which have high amounts of missing entries. The SKNN method generates reliable imputed values which can be used for further cluster-based analysis of microarray data. PMID:15504240

Tactile Toe Agnosia and Percept of a "Missing Toe" in Healthy Humans.

PubMed

Cicmil, Nela; Meyer, Achim P; Stein, John F

2016-03-01

A disturbance of body representation is central to many neurological and psychiatric conditions, but the mechanisms by which body representations are constructed by the brain are not fully understood. We demonstrate a directional disturbance in tactile identification of the toes in healthy humans. Nineteen young adult participants underwent tactile stimulation of the digits with the eyes closed and verbally reported the identity of the stimulated digit. In the majority of individuals, responses to the second and third toes were significantly biased toward the laterally neighboring digit. The directional bias was greater for the nondominant foot and was affected by the identity of the immediately preceding stimulated toe. Unexpectedly, 9/19 participants reported the subjective experience of a "missing toe" or "missing space" during the protocol. These findings challenge current models of somatosensory localization, as they cannot be explained simply by a lack of distinct representations for toes compared with fingers, or by overt toe-finger correspondences. We present a novel theory of equal spatial representations of digit width combined with a "preceding neighbor" effect to explain the observed phenomena. The diagnostic implications for neurological disorders that involve "digit agnosia" are discussed. © The Author(s) 2015.

Whole-exome sequencing for mutation detection in pediatric disorders of insulin secretion: Maturity onset diabetes of the young and congenital hyperinsulinism.

PubMed

Johnson, S R; Leo, P J; McInerney-Leo, A M; Anderson, L K; Marshall, M; McGown, I; Newell, F; Brown, M A; Conwell, L S; Harris, M; Duncan, E L

2018-06-01

To assess the utility of whole-exome sequencing (WES) for mutation detection in maturity-onset diabetes of the young (MODY) and congenital hyperinsulinism (CHI). MODY and CHI are the two commonest monogenic disorders of glucose-regulated insulin secretion in childhood, with 13 causative genes known for MODY and 10 causative genes identified for CHI. The large number of potential genes makes comprehensive screening using traditional methods expensive and time-consuming. Ten subjects with MODY and five with CHI with known mutations underwent WES using two different exome capture kits (Nimblegen SeqCap EZ Human v3.0 Exome Enrichment Kit, Nextera Rapid Capture Exome Kit). Analysis was blinded to previously identified mutations, and included assessment for large deletions. The target capture of five exome capture technologies was also analyzed using sequencing data from >2800 unrelated samples. Four of five MODY mutations were identified using Nimblegen (including a large deletion in HNF1B). Although targeted, one mutation (in INS) had insufficient coverage for detection. Eleven of eleven mutations (six MODY, five CHI) were identified using Nextera Rapid (including the previously missed mutation). On reconciliation, all mutations concorded with previous data and no additional variants in MODY genes were detected. There were marked differences in the performance of the capture technologies. WES can be useful for screening for MODY/CHI mutations, detecting both point mutations and large deletions. However, capture technologies require careful selection. © 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Missing Cells: Pathophysiology, Diagnosis, and Management of (Pan)Cytopenia in Childhood

PubMed Central

Erlacher, Miriam; Strahm, Brigitte

2015-01-01

Peripheral blood cytopenia in children can be due to a variety of acquired or inherited diseases. Genetic disorders affecting a single hematopoietic lineage are frequently characterized by typical bone marrow findings, such as lack of progenitors or maturation arrest in congenital neutropenia or a lack of megakaryocytes in congenital amegakaryocytic thrombocytopenia, whereas antibody-mediated diseases such as autoimmune neutropenia are associated with a rather unremarkable bone marrow morphology. By contrast, pancytopenia is frequently associated with a hypocellular bone marrow, and the differential diagnosis includes acquired aplastic anemia, myelodysplastic syndrome, inherited bone marrow failure syndromes such as Fanconi anemia and dyskeratosis congenita, and a variety of immunological disorders including hemophagocytic lymphohistiocytosis. Thorough bone marrow analysis is of special importance for the diagnostic work-up of most patients. Cellularity, cellular composition, and dysplastic signs are the cornerstones of the differential diagnosis. Pancytopenia in the presence of a normo- or hypercellular marrow with dysplastic changes may indicate myelodysplastic syndrome. More challenging for the hematologist is the evaluation of the hypocellular bone marrow. Although aplastic anemia and hypocellular refractory cytopenia of childhood (RCC) can reliably be differentiated on a morphological level, the overlapping pathophysiology remains a significant challenge for the choice of the therapeutic strategy. Furthermore, inherited bone marrow failure syndromes are usually associated with the morphological picture of RCC, and the recognition of these entities is essential as they often present a multisystem disease requiring different diagnostic and therapeutic approaches. This paper gives an overview over the different disease entities presenting with (pan)cytopenia, their pathophysiology, characteristic bone marrow findings, and therapeutic approaches. PMID:26217651

[Ankle arthrodesis for congenital absence of the fibula].

PubMed

Exner, G Ulrich

2005-10-01

Bilateral congenital absence of the fibula in a 10-year-old boy. A marked valgus malalignment at the left ankle and a foot with three rays caused pain during standing and walking. Ortheses did not help. Therefore, various treatment options were considered such as amputation of the foot, a supramalleolar correction osteotomy, and a tibiotalar arthrodesis. Correction of malalignment and ankle arthrodesis stabilized with an external mini-fixator while sparing the distal tibial physis. Two skin incisions: one on the medial side visualizing the flexor tendons and the neurovascular bundle while sparing the sural nerve and the small saphenous vein. Exposure of the medial malleolus after division of its ligamentous and capsular attachments. Localization of the ankle joint. The second incision on the lateral side. Z-lengthening of the sole peroneal tendon. Opening of the ankle joint at the lateral and anterior aspect. Resection of the articular surfaces of tibia and talus based on a preoperatively made drawing that showed an alignment of the hindfoot with the longitudinal axis of the tibia and the foot in 90 degrees in relation to the leg. Temporary insertion of a Kirschner wire from the sole of the foot into the tibia to maintain the obtained correction. Placement of a mini-fixator: one threaded Kirschner wire crosses the talocalcaneal synostosis, the second the distal tibial epiphysis, and the third one the proximal third of the tibia. Once the frame is mounted, compression of the resection surfaces and slight distraction between the proximal and middle Kirschner wires. At the age of 16 years the boy is able to use a regular shoe with an orthotic insert; he is pain-free and can participate in all daily activities. The growth of the tibia has not been affected.

Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement.

PubMed

Cideciyan, Artur V; Jacobson, Samuel G; Beltran, William A; Sumaroka, Alexander; Swider, Malgorzata; Iwabe, Simone; Roman, Alejandro J; Olivares, Melani B; Schwartz, Sharon B; Komáromy, András M; Hauswirth, William W; Aguirre, Gustavo D

2013-02-05

Leber congenital amaurosis (LCA) associated with retinal pigment epithelium-specific protein 65 kDa (RPE65) mutations is a severe hereditary blindness resulting from both dysfunction and degeneration of photoreceptors. Clinical trials with gene augmentation therapy have shown partial reversal of the dysfunction, but the effects on the degeneration are not known. We evaluated the consequences of gene therapy on retinal degeneration in patients with RPE65-LCA and its canine model. In untreated RPE65-LCA patients, there was dysfunction and degeneration of photoreceptors, even at the earliest ages. Examined serially over years, the outer photoreceptor nuclear layer showed progressive thinning. Treated RPE65-LCA showed substantial visual improvement in the short term and no detectable decline from this new level over the long term. However, retinal degeneration continued to progress unabated. In RPE65-mutant dogs, the first one-quarter of their lifespan showed only dysfunction, and there was normal outer photoreceptor nuclear layer thickness retina-wide. Dogs treated during the earlier dysfunction-only stage showed improved visual function and dramatic protection of treated photoreceptors from degeneration when measured 5-11 y later. Dogs treated later during the combined dysfunction and degeneration stage also showed visual function improvement, but photoreceptor loss continued unabated, the same as in human RPE65-LCA. The results suggest that, in RPE65 disease treatment, protection from visual function deterioration cannot be assumed to imply protection from degeneration. The effects of gene augmentation therapy are complex and suggest a need for a combinatorial strategy in RPE65-LCA to not only improve function in the short term but also slow retinal degeneration in the long term.

The Economics of the Drug War: Effective Federal Policy of Missed Opportunity?

DTIC Science & Technology

2002-06-01

have had the sole practical result of protecting the peddler’s market, artificially inflating his prices, and keeping his profits fantastically high...later in life. To this end, the Strategy seeks to involve parents, coaches, mentors, teachers, clergy, and other role models in a broad prevention...GDP in the mid-1990s. These expenditures include the costs of incarcerating drug offenders, the healthcare costs of treating drug users, the law

Investigators’ Guide to Sources of Information.

DTIC Science & Technology

1997-04-01

identification purposes. As part of the 1995 Crime Bill, Congress mandated the Secret Service to provide forensic /technical assistance-to federal, state, and...missing and sexually exploited children. Much of the forensic assistance is used in the United States by the Secret Service’s Forensic Services Division...The forensic technology allows the document examiner to scan and digitize text and writings, and later search that material against Page 27 GAO/OSI-97

Ten Years Later: A Study of the Experiences of Non-Traditional Women Students Who Succeeded in A Community College Setting with the Help of A Mentor Program

ERIC Educational Resources Information Center

Bradford, Gyndolyn

2017-01-01

The idea of mentoring in higher education is considered a good thing for students and faculty. What is missing in the research is how does mentoring influence and shape the student experience, does mentoring help retention, and how does it contribute to student development? (Crisp, Baker, Griffin, Lunsford, Pifer, 2017). The mentoring relationship…

Etiology and Treatment of Congenital Festoons.

PubMed

Asaadi, Mokhtar

2018-04-18

Festoons and malar bags present a particular challenge to the plastic surgeon and commonly persist after the traditional lower blepharoplasty. They are more common than we think and a trained eye will be able to recognize them. Lower blepharoplasty in these patients requires addressing the lid-cheek junction and midcheek using additional techniques such as orbicularis retaining ligament (ORL) and zygomaticocutaneous ligament (ZCL) release, midface lift, microsuction, or even direct excision (Kpodzo e al. in Aesthet Surg J 34(2):235-248, 2014; Goldberg et al. in Plast Reconstr Surg 115(5):1395-1402, 2005; Mendelson et al. in Plast Reconstr Surg 110(3):885-896, 2002). The goal in these patients is to restore a smooth contour from the lower eyelid to the cheek. The review of literature shows the need for more than one surgery for treatment of the festoons (Furnas in Plast Reconstr Surg 61(4):540-546, 1978). One of the reasons WHY these cases are so challenging is that the festoons tend to persist even after surgical treatment. As Furnas said, "Malar mounds have acquired some notoriety for their persistence in the face of surgical efforts to remove them" (Furnas in Clin Plast Surg 20(2):367-385, 1993). This could be due to different etiology between acquired and congenital festoons. There are currently no cases of congenital festoons described in the literature. In the last 10 years, we have treated a total of 59 patients with festoons or malar mounds. We used the terminology of festoon for acquired cases and malar mound for congenital ones (Kpodzo et al. 2014). We were successful with treating 56 patients who developed acquired festoons later on in life; however, three cases required an additional treatment to improve residual puffiness that they had after the first operation. From the above findings, we hypothesized that there should be something common in patients with congenital festoons or malar mounds which are different from acquired festoons. All of these three patients had one thing in common, and that was a history of puffiness of the prezygomatic space since childhood. Each of these patients expressed that these conditions have been present since a young age but became worse with aging over time. To date, there are no descriptions of the cause or treatment for congenital festoons. Here, we present the first case series of three patients with congenital festoons. We discuss the possible etiology of congenital festoons, the physical exam, and the surgical approaches. We performed a retrospective review of 59 patients who had surgical correction of festoons in the past 10 years, three of which were presented since childhood. In this paper, we will discuss the pathophysiology and the surgical treatments for congenital festoons. Only patients with festoons present since birth were included. The first two cases were treated with a subciliary blepharoplasty with release of the orbicularis retaining and zygomaticocutaneous ligaments and midface lift with canthopexy and orbicularis muscle suspension. The third case had a subciliary lower blepharoplasty approach, skin, and muscle flap and direct excision of the fat through the orbicularis from the subcutaneous space. In addition, each patient required further treatments to address supra-orbicularis fat by various methods. All patients with acquired festoons had successful results with one operation by subciliary skin muscle flap, release of the ORL and ZCL, midface lift, and muscle suspension. All three patients with congenital festoons had residual puffiness that required surgical and non-surgical treatments. There were no complications. Our first case required three surgical treatments for complete correction. The second and third cases required Kybella injections after their initial surgical treatments. The specimen of the first patient, Fig. 10, who had direct excision, showed localized fat collection immediately under the skin and above the orbicularis oculi muscle. Correction of congenital festoons or malar mounds requires a combination of subciliary lower blepharoplasty with skin muscle flap, midface lift, and orbicularis muscle suspension, as well as addressing the supra-orbicularis fat via direct excision, off-label Kybella injection or liposuction. This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

[Rudolph, crown-prince: the myth of a lost illusion].

PubMed

Salvendy, János

2009-01-01

The personality of Rudolf, the crown prince of Austria-Hungary evokes considerable interest even generations later. He had a charismatic and contradictory character that raised many hopes which he was not able to fulfill. His traumatic upbringing, the unhappy union of his parents and his mother's life-long depression all had a severe and damaging impact on him. Furthermore, his father's missing acknowledgement, Rudolf's own troubled marriage, his social isolation, alcoholism and morphine addiction along with his own depression and multiple physical illnesses have all contributed to the vulnerability of his personality. The author analyzes the developments that led to Rudolf s suicide in Mayerling and the impact of his life and death on the later myths about him.

RNAV STAR Procedural Adherence

NASA Technical Reports Server (NTRS)

Matthews, Bryan L.; Stewart, Michael J.

2017-01-01

Flight crews and air traffic controllers have reported many safety concerns regarding area navigation standard terminal arrival routes (RNAV STARs). However, our information sources to quantify these issues are limited to subjective reporting and time consuming case-by-case investigations. This work is a preliminary study into the objective performance of instrument procedures and provides a framework to track procedural concepts and assess design functionality. We created a tool and analysis methods for gauging aircraft adherence as it relates to RNAV STARs. This information is vital for comprehensive understanding of how our air traffic behaves. In this exploratory archival study, we mined the performance of 24 major US airports over the preceding three years. Overlaying radar track data on top of RNAV STAR routes provided a comparison between aircraft flight paths and the waypoint positions and altitude restrictions. NASA Ames Supercomputing resources were utilized to perform the data mining and processing. We assessed STARs by lateral transition path (full-lateral), vertical restrictions (full-lateralfull-vertical), and skipped waypoints (skips). In addition, we graphed aircraft altitudes relative to the altitude restrictions and their occurrence rates. Full-lateral adherence was generally greater than Full-lateralfull-vertical, but the difference between the rates was not always consistent. Full-lateralfull-vertical adherence medians of the 2016 procedures ranged from 0 in KDEN (Denver) to 21 in KMEM (Memphis). Waypoint skips ranged from 0 to nearly 100 for specific waypoints. Altitudes restrictions were sometimes missed by systematic amounts in 1000 ft. increments from the restriction, creating multi-modal distributions. Other times, altitude misses looked to be more normally distributed around the restriction. This tool may aid in providing acceptability metrics as well as risk assessment information.

Prevalence of dental anomalies in patients with cleft lip and palate.

PubMed

Eslami, Neda; Majidi, Mohammad Reza; Aliakbarian, Majid; Hasanzadeh, Nadia

2013-09-01

The aim of the present study was to investigate the prevalence of dental anomalies in a group of patients with cleft lip and palate (CL/P) in the northeast of Iran. Ninety-one patients referring to the Cleft Lip and Palate Clinic of Mashhad Dental School were enrolled and classified into right CL/P, left CL/P, and bilateral CL/P groups. Photographs, dental casts, and panoramic and periapical radiographs were retrieved, and dental anomalies were recorded. χ test was used to analyze the frequency of dental anomalies according to type of cleft and sex. Missing maxillary lateral incisors was the most frequent dental anomaly, which was slightly higher in the bilateral group (61.1%). There were significantly more cases of missing lateral incisors outside the cleft area in right CL/P (P = 0.015). Peg lateral incisors were observed in 33.3% of bilateral CL/P compared with 28% of right and 23.3% of left unilateral cases. The sample presented rotations of central incisors in the cleft area in 33.3% of bilateral clefts. In unilateral clefts, it occurred more frequently in the right side (48%). Sexual dimorphism appeared only for maxillary central incisor rotation in the cleft area, which showed significantly greater frequency in females (P = 0.025). Transposition of maxillary canine and first premolars was found in 5.5% of bilateral, 8% of right, and 3.3% of left unilateral clefts. The prevalence of dental anomalies in the studied sample seems to be higher than that reported in the normal population. More anomalies were observed at the cleft side. The frequency of most anomalies was not significantly different between the 2 sexes.

Frequency of the Congenital Transmission of Trypanosoma cruzi: A Systematic Review and Meta-Analysis

PubMed Central

Howard, Elizabeth J.; Xiong, Xu; Carlier, Yves; Sosa-Estani, Sergio; Buekens, Pierre

2014-01-01

Background Chagas disease is caused by the parasite Trypanosoma cruzi and endemic in much of Latin America. With increased globalization and immigration, it is a risk in any country due in part to congenital transmission. The frequency of congenital transmission is unclear. Objective To assess the frequency of congenital transmission of T. cruzi. Search Strategy PubMed, Journals@Ovid Full Text, EMBASE, CINAHL, Fuente Academica and BIREME databases were searched using seven search terms related to Chagas disease or Trypanosoma cruzi and congenital transmission. Selection Criteria The inclusion criteria were the following: Dutch, English, French, Portuguese or Spanish language; case report, case series or observational study; original data on congenital T. cruzi infection in humans; congenital infection rate reported or it could be derived. This systematic review included 13 case reports/series and 51 observational studies. Data Collection and Analysis Two investigators independently collected data on study characteristics, diagnosis and congenital infection rate. The principal summary measure – the congenital transmission rate – is defined as the number of congenitally infected infants divided by the number of infants born to infected mothers. A random effects model was utilized. Main Results The pooled congenital transmission rate was 4.7% (95% confidence interval: 3.9–5.6%). Endemic countries had a higher rate of congenital transmission compared to non-endemic (5.0% vs. 2.7%). Conclusions Congenital transmission of Chagas disease is a global problem. Overall risk of congenital infection in infants born to infected mothers is about 5%. The congenital mode of transmission requires targeted screening to prevent future cases of Chagas disease. PMID:23924273

General Concepts in Adult Congenital Heart Disease.

PubMed

Mutluer, Ferit Onur; Çeliker, Alpay

2018-01-20

Congenital heart disease in adults (adult congenital heart disease) is a growing burden for healthcare systems. While infant mortality due to congenital heart disease in the last four decades decreased by almost 3-fold, adult congenital heart disease prevalence increased by more than 2-fold in United States. Adult congenital heart disease prevalence is expected to increase steadily until 2050 in projections. Adult congenital heart disease is a multifaceted problem with many dimensions. This manuscript aims to provide an overview of the common adult congenital heart diseases and summarize important points in management of these diseases with possible problems and complications that the patients and the physicians face.

Congenital brainstem disconnection associated with a syrinx of the brainstem.

PubMed

Barth, P G; de Vries, L S; Nikkels, P G J; Troost, D

2008-02-01

We report a case of congenital brainstem disconnection including the second detailed autopsy. A full-term newborn presented with irreversible apnoea and died on the fifth day. MRI revealed disconnection of the brainstem. The autopsy included a series of transverse sections of the mesencephalon, medulla oblongata and bridging tissue fragments. A fragile tube walled by mature brainstem tissue could be reconstructed. It enveloped a cylinder of fluid within the ventral pons extending to the mesencephalon and the lower brainstem. The aqueduct was patent and outside the lesion. The basilar artery was represented by a tiny median vessel. The ventral and lateral parts of the posterior brainstem were surrounded by heterotopic glial tissue. The olivary nucleus was absent and the cerebellar dentate nucleus was dysplastic. Considering the maturity of the remaining parts of the pons, the onset of structural decline is likely to be close to the time of birth. Probable causes are progressively insufficient perfusion through an hypoplastic basilar artery, and obstructed venous drainage through an abnormal glial barrier surrounding the posterior brainstem. The morphological findings can be characterized as a syrinx, known from disorders in which brainstem or spinal cord are damaged by a combination of mechanical and circulatory factors.

Integration of nodal and BMP signals in the heart requires FoxH1 to create left-right differences in cell migration rates that direct cardiac asymmetry.

PubMed

Lenhart, Kari F; Holtzman, Nathalia G; Williams, Jessica R; Burdine, Rebecca D

2013-01-01

Failure to properly establish the left-right (L/R) axis is a major cause of congenital heart defects in humans, but how L/R patterning of the embryo leads to asymmetric cardiac morphogenesis is still unclear. We find that asymmetric Nodal signaling on the left and Bmp signaling act in parallel to establish zebrafish cardiac laterality by modulating cell migration velocities across the L/R axis. Moreover, we demonstrate that Nodal plays the crucial role in generating asymmetry in the heart and that Bmp signaling via Bmp4 is dispensable in the presence of asymmetric Nodal signaling. In addition, we identify a previously unappreciated role for the Nodal-transcription factor FoxH1 in mediating cell responsiveness to Bmp, further linking the control of these two pathways in the heart. The interplay between these TGFβ pathways is complex, with Nodal signaling potentially acting to limit the response to Bmp pathway activation and the dosage of Bmp signals being critical to limit migration rates. These findings have implications for understanding the complex genetic interactions that lead to congenital heart disease in humans.

Surgical repair of a congenital sternal cleft in a cat.

PubMed

Schwarzkopf, Ilona; Bavegems, Valerie C A; Vandekerckhove, Peter M F P; Melis, Sanne M; Cornillie, Pieter; de Rooster, Hilde

2014-07-01

To describe the clinical findings, diagnosis, and treatment of an incomplete cleft of the 5th-8th sternebra and a cranioventral abdominal wall hernia in a 2 month old Ragdoll kitten and to evaluate the short- and long-term outcome. Clinical report. Ragdoll cat (n = 1), 2 months old. Sternal cleft was confirmed by thoracic radiographs. Computed tomography (CT) was used to plan an optimal surgical approach. A ventral median incision was made, starting at the 3rd sternebra and extended into the abdomen. Ostectomy of the proximal part of the 5th left sternebra was performed. Lateral periosteal flaps were created, unfolded, and absorbable monofilament sutures preplaced to facilitate closure and the repair was reinforced by 2 peristernal sutures. A bone graft was applied, and the free margin of the omentum was sutured to the cranial aspect of the wound. No major complications occurred. At 3 weeks, CT scan confirmed approximation of the hemisternebrae and at 10 months, complete fusion of the hemisternebrae had not occurred, but a strong connection of the sternal bars was present. Sternal cleft is a rare congenital abnormality that can be corrected surgically with favorable outcome. © Copyright 2014 by The American College of Veterinary Surgeons.

Bilateral oblique facial clefts and extremity anomaly in an infant after intrauterine efavirenz exposure and review of its teratogenic risk.

PubMed

Shanske, Alan L

2012-09-10

Congenital anomalies may be caused by genetic or environmental factors or a combination of both. Oblique facial clefts are very rare congenital deformities. The occurrence of facial clefts and an extremity anomaly suggests a common underlying cause. Lateral oro-ocular clefts do not occur along normal developmental planes and may be part of the amnion disruption complex sequence. Our objective was to report a case of this very event, which also followed an unusual intrauterine exposure and review the literature on the teratogenic risk of efavirenz. We report a case of amniotic rupture sequence after fetal HIV and antiretroviral exposure. Teratogenic exposure has been rarely reported and never after antiretroviral exposure. By reporting and registering more cases, we will be able to better assess the risks such medications pose to the developing fetus. The publication of a single case report has the potential to contribute to our knowledge of the significance of prenatal exposure to antiretrovirals and other medications for common HIV-associated disorders. It also generates a hypothesis that can be tested with further clinical data, animal models and epidemiologic studies.

Insulin resistance and diabetes mellitus in transgenic mice expressing nuclear SREBP-1c in adipose tissue: model for congenital generalized lipodystrophy

PubMed Central

Shimomura, Iichiro; Hammer, Robert E.; Richardson, James A.; Ikemoto, Shinji; Bashmakov, Yuriy; Goldstein, Joseph L.; Brown, Michael S.

1998-01-01

Overexpression of the nuclear form of sterol regulatory element-binding protein-1c (nSREBP-1c/ADD1) in cultured 3T3-L1 preadipocytes was shown previously to promote adipocyte differentiation. Here, we produced transgenic mice that overexpress nSREBP-1c in adipose tissue under the control of the adipocyte-specific aP2 enhancer/promoter. A syndrome with the following features was observed: (1) Disordered differentiation of adipose tissue. White fat failed to differentiate fully, and the size of white fat depots was markedly decreased. Brown fat was hypertrophic and contained fat-laden cells resembling immature white fat. Levels of mRNA encoding adipocyte differentiation markers (C/EBPα, PPARγ, adipsin, leptin, UCP1) were reduced, but levels of Pref-1 and TNFα were increased. (2) Marked insulin resistance with 60-fold elevation in plasma insulin. (3) Diabetes mellitus with elevated blood glucose (>300 mg/dl) that failed to decline when insulin was injected. (4) Fatty liver from birth and elevated plasma triglyceride levels later in life. These mice exhibit many of the features of congenital generalized lipodystrophy (CGL), an autosomal recessive disorder in humans. PMID:9784493

Femoral Reconstruction Using External Fixation

PubMed Central

Palatnik, Yevgeniy; Rozbruch, S. Robert

2011-01-01

Background. The use of an external fixator for the purpose of distraction osteogenesis has been applied to a wide range of orthopedic problems caused by such diverse etiologies as congenital disease, metabolic conditions, infections, traumatic injuries, and congenital short stature. The purpose of this study was to analyze our experience of utilizing this method in patients undergoing a variety of orthopedic procedures of the femur. Methods. We retrospectively reviewed our experience of using external fixation for femoral reconstruction. Three subgroups were defined based on the primary reconstruction goal lengthening, deformity correction, and repair of nonunion/bone defect. Factors such as leg length discrepancy (LLD), limb alignment, and external fixation time and complications were evaluated for the entire group and the 3 subgroups. Results. There was substantial improvement in the overall LLD, femoral length discrepancy, and limb alignment as measured by mechanical axis deviation (MAD) and lateral distal femoral angle (LDFA) for the entire group as well as the subgroups. Conclusions. The Ilizarov external fixator allows for decreased surgical exposure and preservation of blood supply to bone, avoidance of bone grafting and internal fixation, and simultaneous lengthening and deformity correction, making it a very useful technique for femoral reconstruction. PMID:21991425

Surgical management of third nerve palsy

PubMed Central

Singh, Anupam; Bahuguna, Chirag; Nagpal, Ritu; Kumar, Barun

2016-01-01

Third nerve paralysis has been known to be associated with a wide spectrum of presentation and other associated factors such as the presence of ptosis, pupillary involvement, amblyopia, aberrant regeneration, poor bell's phenomenon, superior oblique (SO) overaction, and lateral rectus (LR) contracture. Correction of strabismus due to third nerve palsy can be complex as four out of the six extraocular muscles are involved and therefore should be approached differently. Third nerve palsy can be congenital or acquired. The common causes of isolated third nerve palsy in children are congenital (43%), trauma (20%), inflammation (13%), aneurysm (7%), and ophthalmoplegic migraine. Whereas, in adult population, common etiologies are vasculopathic disorders (diabetes mellitus, hypertension), aneurysm, and trauma. Treatment can be both nonsurgical and surgical. As nonsurgical modalities are not of much help, surgery remains the main-stay of treatment. Surgical strategies are different for complete and partial third nerve palsy. Surgery for complete third nerve palsy may involve supra-maximal recession - resection of the recti. This may be combined with SO transposition and augmented by surgery on the other eye. For partial third nerve, palsy surgery is determined according to nature and extent of involvement of extraocular muscles. PMID:27433033

[Ultrasound and color Doppler applications in nephrology. The normal kidney: anatomy, vessels and congenital anomalies].

PubMed

Meola, Mario; Petrucci, Ilaria; Giovannini, Lisa; Samoni, Sara; Dellafiore, Carolina

2012-01-01

Gray-scale ultrasound is the diagnostic technique of choice in patients with suspected or known renal disease. Knowledge of the normal and abnormal sonographic morphology of the kidney and urinary tract is essential for a successful diagnosis. Conventional sonography must always be complemented by Doppler sampling of the principal arterial and venous vessels. B-mode scanning is performed with the patient in supine, prone or side position. The kidney can be imaged by the anterior, lateral or posterior approach using coronal, transverse and oblique scanning planes. Morphological parameters that must be evaluated are the coronal diameter, the parenchymal thickness and echogenicity, the structure and state of the urinary tract, and the presence of congenital anomalies that may mimic a pseudomass. The main renal artery and the hilar-intraparenchymal branches of the arterial and venous vessels should be accurately evaluated using color Doppler. Measurement of intraparenchymal resistance indices (IP, IR) provides an indirect and quantitative parameter of the stiffness and eutrophic or dystrophic remodeling of the intrarenal microvasculature. These parameters differ depending on age, diabetic and hypertensive disease, chronic renal glomerular disease, and interstitial, vascular and obstructive nephropathy.

Pediatric living donor liver transplantation for congenital hepatic fibrosis using a mother's graft with von Meyenburg complex: A case report.

PubMed

Yamada, Naoya; Sanada, Yukihiro; Katano, Takumi; Tashiro, Masahisa; Hirata, Yuta; Okada, Noriki; Ihara, Yoshiyuki; Miki, Atsushi; Sasanuma, Hideki; Urahashi, Taizen; Sakuma, Yasunaru; Mizuta, Koichi

2016-11-28

This is the first report of living donor liver transplantation (LDLT) for congenital hepatic fibrosis (CHF) using a mother's graft with von Meyenburg complex. A 6-year-old girl with CHF, who suffered from recurrent gastrointestinal bleeding, was referred to our hospital for liver transplantation. Her 38-year-old mother was investigated as a living donor and multiple biliary hamartoma were seen on her computed tomography and magnetic resonance imaging scan. The mother's liver function tests were normal and she did not have any organ abnormality, including polycystic kidney disease. LDLT using the left lateral segment (LLS) graft from the donor was performed. The donor LLS graft weighed 250 g; the graft recipient weight ratio was 1.19%. The operation and post-operative course of the donor were uneventful and she was discharged on post-operative day (POD) 8. The graft liver function was good, and the recipient was discharged on POD 31. LDLT using a graft with von Meyenburg complex is safe and useful. Long-term follow-up is needed with respect to graft liver function and screening malignant tumors.

Two siblings with congenital central hypothyroidism caused by a novel mutation in the IGSF1 gene.

PubMed

Oguma, Makiko; Kobayashi, Mizuki; Yamazaki, Masayo; Yokoyama, Koji; Morikawa, Shuntaro; Yamaguchi, Takeshi; Yamagata, Takanori; Tajima, Toshihiro

2018-01-01

Genetic defects in the immunoglobulin superfamily member 1(IGSF1) protein are the cause of congenital central hypothyroidism (C-CH). Here we report two Japanese siblings with C-CH due to a novel IGSF1 mutation. The youngest brother showed a failure to thrive, hypothermia, and neonatal icterus six days after birth. Further endocrine evaluations led to the diagnosis of C-CH. In addition, PRL deficiency was later detected. In contrast, the elder brother did not show symptoms of severe hypothyroidism during the neonatal period, but he had been followed up by doctors due to psychomotor developmental delays since the age of 1 yr. At the age of 3 yr, he had low thyroxine and PRL levels and was also diagnosed with C-CH. Because of the C-CH and PRL deficiency, an IGSF1 deficiency was suspected. Sequence analysis of the IGSF1 gene identified a novel hemizygous mutation of p.Trp1173GlyfsTer8 (NM_001170961.1:c.3517del) in both siblings. In conclusion, the phenotypic severity of C-CH is different, even in siblings. Importantly, an IGSF1 deficiency may result in severe hypothyroidism during the neonatal period.

Use of Vertical Expandable Prosthetic Titanium Rib (VEPTR) in the Treatment of Congenital Scoliosis Without Fused Ribs.

PubMed

Murphy, Robert F; Moisan, Alice; Kelly, Derek M; Warner, William C; Jones, Tamekia L; Sawyer, Jeffrey R

2016-06-01

Although the vertical expandable prosthetic titanium rib (VEPTR) has been shown to be useful in treating congenital scoliosis (CS) with fused ribs, no studies to date have specifically evaluated the efficacy of VEPTR in the treatment of CS without fused ribs. The purpose of this study was to determine the effectiveness of VEPTR in sagittal/coronal curve correction and spine growth and compare its complication rate to the use of VEPTR in other conditions and to other treatment methods used for CS. A multicenter database was queried for patients with CS without fused ribs treated with VEPTR. Anteroposterior (AP) and lateral radiographs were used to measure parameters at 3 timepoints (preoperative, immediate postoperative, and latest follow-up): coronal Cobb angle, sagittal kyphosis, and thoracic and lumbar spine heights. Clinical data included age, time to follow-up, and complications. Twenty-five patients (13 females, 12 males) were identified. The average age at implantation was 5.7 years, with an average follow-up of 50 months. Several parameters improved from preoperative to latest follow-up: coronal Cobb angle (69 to 54 degrees, P<0.0001), thoracic spine height (T1-T12) in the AP (13.3 to 15.9 cm, P<0.0001) and lateral (14.8 to 17.4 cm, P=0.0024) planes, and lumbar spine height (L1-S1) in the AP (8.8 to 11.4 cm, P<0.0001) and lateral (9.9 to 11.9 cm, P=0.0002) planes. Kyphosis increased over the study period (36 to 41 degrees, P=0.6). Fifteen patients (60%) had 41 complications (average 2.75; range, 1 to 12). Twenty-eight complications (68%) were device-related, and 13 (32%) were disease-related. The most common complications were infection, wound dehiscence, and device migration. Six complications (15%) altered the course of treatment. Thoracic spine height increased 79% of expected growth. VEPTR is an effective treatment for patients with CS without fused ribs, as evidenced by improved radiographic parameters and increased spinal height, with a complication rate which is high but similar to other methods of treatment. Level IV-case series.

A simple provider-based educational intervention to boost infant immunization rates: a controlled trial.

PubMed

Stille, C J; Christison-Lagay, J; Bernstein, B A; Dworkin, P H

2001-07-01

We sought to determine if a simple educational intervention initiated at the first well-child care visit, with reinforcement at subsequent visits, can improve inner-city infant immunization rates. We conducted a controlled trial involving 315 newborn infants and their primary caregivers in 3 inner-city primary care centers. Child health care providers gave caregivers in the intervention group an interactive graphic card with verbal reinforcement. At later visits, stickers were applied to the card when immunizations were given. Routine information was given to controls. After the trial, age-appropriate immunization rates at 7 months were 58% in each group. Intervention infants had 50% fewer missed opportunities to immunize (p=0.01) but cancelled 77% more appointments (p=0.04) than controls. We conclude that a brief educational intervention at the first well-child care visit did not boost 7-month immunization rates, although it was associated with fewer missed opportunities to immunize.

Huge maternal hydronephrosis: a rare complication in pregnancy.

PubMed

Peng, Hsiu-Huei; Wang, Chin-Jung; Yen, Chih-Feng; Chou, Chien-Chung; Lee, Chyi-Long

2003-06-10

A huge maternal hydronephrosis is uncommon in pregnancy and might be mistaken as a pelvic mass. A 21-year-old primigravida was noted at 25th week of gestation to have a visible bulging mass on her left flank. The mass was originally mistaken as a large ovarian cyst but later proved to be a huge hydronephrosis. Retrograde insertion of ureteroscope and a ureteric stent failed, so we performed repeated ultrasound-guided needle aspiration to decompress the huge hydronephrosis, which enabled the patient to proceed to a successful term vaginal delivery. Nephrectomy was performed after delivery and proved the diagnosis of congenital ureteropelvic junction obstruction.

Atypical Strokes in a Young African American Male: A Case of Mitochondrial Encephalopathy Lactic Acidosis and Stroke-Like Episodes (MELAS) Syndrome

PubMed Central

Sanchez, Jully M.; Tan, Judy Ann; Farmakiotis, Dimitrios; Aggarwal, Vikas

2011-01-01

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a rare but important cause of stroke-like symptoms which can often be missed Thambisetty and Newman 2004. We describe a case of a young male presenting with stroke-like episodes, later diagnosed with MELAS in an attempt to improve the understanding about diagnosing MELAS in the appropriate clinical context. PMID:21789268

Comparing posteroanterior with lateral and anteroposterior chest radiography in the initial detection of parapneumonic effusions.

PubMed

Moffett, Bryan K; Panchabhai, Tanmay S; Nakamatsu, Raul; Arnold, Forest W; Peyrani, Paula; Wiemken, Timothy; Guardiola, Juan; Ramirez, Julio A

2016-12-01

It is unclear whether anteroposterior (AP) or posteroanterior with lateral (PA/Lat) chest radiographs are superior in the early detection of clinically relevant parapneumonic effusions (CR-PPEs). The objective of this study was to identify which technique is preferred for detection of PPEs using chest computed tomography (CCT) as a reference standard. A secondary analysis of a pneumonia database was conducted to identify patients who received a CCT within 24 hours of presentation and also received AP or PA/Lat chest radiographs within 24 hours of CCT. Sensitivity and specificity were then calculated by comparing the radiographic diagnosis of PPEs of both types of radiographs compared with CCT by using the existing attending radiologist interpretation. Clinical relevance of effusions was determined by CCT effusion measurement of >2.5 cm or presence of loculation. There was a statistically significant difference between the sensitivity of AP (67.3%) and PA/Lat (83.9%) chest radiography for the initial detection of CR-PPE. Of 16 CR-PPEs initially missed by AP radiography, 7 either required drainage initially or developed empyema within 30 days, whereas no complicated PPE or empyema was found in those missed by PA/Lat radiography. PA/Lat chest radiography should be the initial imaging of choice in pneumonia patients for detection of PPEs because it appears to be statistically superior to AP chest radiography. Published by Elsevier Inc.

Integrated rare variant-based risk gene prioritization in disease case-control sequencing studies.

PubMed

Lin, Jhih-Rong; Zhang, Quanwei; Cai, Ying; Morrow, Bernice E; Zhang, Zhengdong D

2017-12-01

Rare variants of major effect play an important role in human complex diseases and can be discovered by sequencing-based genome-wide association studies. Here, we introduce an integrated approach that combines the rare variant association test with gene network and phenotype information to identify risk genes implicated by rare variants for human complex diseases. Our data integration method follows a 'discovery-driven' strategy without relying on prior knowledge about the disease and thus maintains the unbiased character of genome-wide association studies. Simulations reveal that our method can outperform a widely-used rare variant association test method by 2 to 3 times. In a case study of a small disease cohort, we uncovered putative risk genes and the corresponding rare variants that may act as genetic modifiers of congenital heart disease in 22q11.2 deletion syndrome patients. These variants were missed by a conventional approach that relied on the rare variant association test alone.

Craniofacial Tissue Engineering by Stem Cells

PubMed Central

Mao, J.J.; Giannobile, W.V.; Helms, J.A.; Hollister, S.J.; Krebsbach, P.H.; Longaker, M.T.; Shi, S.

2008-01-01

Craniofacial tissue engineering promises the regeneration or de novo formation of dental, oral, and craniofacial structures lost to congenital anomalies, trauma, and diseases. Virtually all craniofacial structures are derivatives of mesenchymal cells. Mesenchymal stem cells are the offspring of mesenchymal cells following asymmetrical division, and reside in various craniofacial structures in the adult. Cells with characteristics of adult stem cells have been isolated from the dental pulp, the deciduous tooth, and the periodontium. Several craniofacial structures—such as the mandibular condyle, calvarial bone, cranial suture, and subcutaneous adipose tissue—have been engineered from mesenchymal stem cells, growth factor, and/or gene therapy approaches. As a departure from the reliance of current clinical practice on durable materials such as amalgam, composites, and metallic alloys, biological therapies utilize mesenchymal stem cells, delivered or internally recruited, to generate craniofacial structures in temporary scaffolding biomaterials. Craniofacial tissue engineering is likely to be realized in the foreseeable future, and represents an opportunity that dentistry cannot afford to miss. PMID:17062735

Simulation-based planning of surgical interventions in pediatric cardiology

NASA Astrophysics Data System (ADS)

Marsden, Alison

2012-11-01

Hemodynamics plays an essential role in the progression and treatment of cardiovascular disease. This is particularly true in pediatric cardiology, due to the wide variation in anatomy observed in congenital heart disease patients. While medical imaging provides increasingly detailed anatomical information, clinicians currently have limited knowledge of important fluid mechanical parameters. Treatment decisions are therefore often made using anatomical information alone, despite the known links between fluid mechanics and disease progression. Patient-specific simulations now offer the means to provide this missing information, and, more importantly, to perform in-silico testing of new surgical designs at no risk to the patient. In this talk, we will outline the current state of the art in methods for cardiovascular blood flow simulation and virtual surgery. We will then present new methodology for coupling optimization with simulation and uncertainty quantification to customize treatments for individual patients. Finally, we will present examples in pediatric cardiology that illustrate the potential impact of these tools in the clinical setting.

Normalisation of brain connectivity through compensatory behaviour, despite congenital hand absence.

PubMed

Hahamy, Avital; Sotiropoulos, Stamatios N; Henderson Slater, David; Malach, Rafael; Johansen-Berg, Heidi; Makin, Tamar R

2015-01-06

Previously we showed, using task-evoked fMRI, that compensatory intact hand usage after amputation facilitates remapping of limb representations in the cortical territory of the missing hand (Makin et al., 2013a). Here we show that compensatory arm usage in individuals born without a hand (one-handers) reflects functional connectivity of spontaneous brain activity in the cortical hand region. Compared with two-handed controls, one-handers showed reduced symmetry of hand region inter-hemispheric resting-state functional connectivity and corticospinal white matter microstructure. Nevertheless, those one-handers who more frequently use their residual (handless) arm for typically bimanual daily tasks also showed more symmetrical functional connectivity of the hand region, demonstrating that adaptive behaviour drives long-range brain organisation. We therefore suggest that compensatory arm usage maintains symmetrical sensorimotor functional connectivity in one-handers. Since variability in spontaneous functional connectivity in our study reflects ecological behaviour, we propose that inter-hemispheric symmetry, typically observed in resting sensorimotor networks, depends on coordinated motor behaviour in daily life.

Rhabdomyolysis. The role of diagnostic and prognostic factors

PubMed Central

Keltz, Eran; Khan, Fahmi Yousef; Mann, Gideon

2013-01-01

Summary Rhabdomyolysis, literally meaning the breakdown of muscle tissue, is a common syndrome with many causes, acquired ones such as exertion, trauma, infections, temperature extremes, drugs, toxins, electrolyte and endocrine abnormalities, and congenital ones such as myopathies and connective tissue disorders. All results in a common pathophysiologic pathway which ends with the dispersing of muscle tissue content into the circulation. Rhabdomyolysis has characteristic clinical, laboratory and radiologic features, but does require a high index of suspicion so that the diagnosis would not be missed. The sensitivity and specificity of the various characteristics, as well as clinical guidelines, are discussed in this paper. The syndrome may present with several complications, e.g. arrhythmias, electrolyte abnormalities, acute renal injury, acidosis, volume depletion, compartment syndrome and disseminated intravascular coagulation. The prognosis is highly variable and depends on the underlying etiologies and complications, but is in general considered as good. The milestone of treatment is vigorous fluid resuscitation. Treatment options, in practice and in research, are discussed in the following pages. PMID:24596694

Review of ectodermal dysplasia: case report on treatment planning and surgical management of oligodontia with implant restorations.

PubMed

Li, Dehua; Liu, Yanpu; Ma, Wei; Song, Yingliang

2011-10-01

Dental implants have proven to be a reliable modality for the rehabilitation of missing teeth. However, there are limited reports on managing anodontia related to ectodermal dysplasia in the scientific literature. The severely reduced bone quantity due to the congenital absence of multiple natural teeth is the biggest challenge for the surgeon. There are a variety of bone augmentation procedures to establish adequate bone quantity, and the surgical planning should be used on an individual case basis. This is a report of a 19-year-old male patient affected by hypohidrotic ectodermal dysplasia. Oligodontia associated with severe atrophy of jaws was the chief complaint for seeking treatment. Based on clinical and radiographic examinations, 2 bone augmentation procedures were used to obtain sufficient width of alveolus for implant placement by performing an onlay bone graft in the maxilla and vertical distraction osteogenesis in the mandible. The treatment planning was discussed and informed consent was obtained.

Mapping and phasing of structural variation in patient genomes using nanopore sequencing.

PubMed

Cretu Stancu, Mircea; van Roosmalen, Markus J; Renkens, Ivo; Nieboer, Marleen M; Middelkamp, Sjors; de Ligt, Joep; Pregno, Giulia; Giachino, Daniela; Mandrile, Giorgia; Espejo Valle-Inclan, Jose; Korzelius, Jerome; de Bruijn, Ewart; Cuppen, Edwin; Talkowski, Michael E; Marschall, Tobias; de Ridder, Jeroen; Kloosterman, Wigard P

2017-11-06

Despite improvements in genomics technology, the detection of structural variants (SVs) from short-read sequencing still poses challenges, particularly for complex variation. Here we analyse the genomes of two patients with congenital abnormalities using the MinION nanopore sequencer and a novel computational pipeline-NanoSV. We demonstrate that nanopore long reads are superior to short reads with regard to detection of de novo chromothripsis rearrangements. The long reads also enable efficient phasing of genetic variations, which we leveraged to determine the parental origin of all de novo chromothripsis breakpoints and to resolve the structure of these complex rearrangements. Additionally, genome-wide surveillance of inherited SVs reveals novel variants, missed in short-read data sets, a large proportion of which are retrotransposon insertions. We provide a first exploration of patient genome sequencing with a nanopore sequencer and demonstrate the value of long-read sequencing in mapping and phasing of SVs for both clinical and research applications.

Overlooked diseases of the vagina: a directed anatomic-pathologic approach for imaging assessment.

PubMed

Walker, Daphne K; Salibian, Raffi A; Salibian, Allison D; Belen, Kristin M; Palmer, Suzanne L

2011-10-01

The vagina can easily be overlooked at ultrasonography (US), computed tomography (CT), or magnetic resonance (MR) imaging performed for nongynecologic indications. Even when gynecologic disease is suspected, the vagina may be underevaluated at routine pelvic US due to probe positioning and at CT due to poor vaginal tissue characterization. Although MR imaging offers excellent tissue characterization, radiologists must focus on the vaginal area to recognize any incidental findings. A directed anatomic-pathologic approach to assessing the vagina at US, CT, and MR imaging is recommended so that pertinent findings are not missed. This approach requires a knowledge of the anatomy and embryologic development of the vagina, as well as an understanding of congenital, developmental, and postoperative vaginal disease entities. In addition, it is important to understand the strengths and limitations of each imaging modality with respect to vaginal assessment. By remembering to "look beyond" the uterus and cervix to the vagina, radiologists can improve their perception and interpretation of vaginal anatomy and disease. © RSNA, 2011.

Implant-supported Oral Rehabilitation in Child with Ectodermal Dysplasia - 4-year Follow-up.

PubMed

Cezária Triches, Thaisa; Ximenes, Marcos; Oliveira de Souza, João Gustavo; Rodrigues Lopes Pereira Neto, Armando; Cardoso, Antônio Carlos; Bolan, Michele

2017-01-01

Ectodermal dysplasia (ED) is an anomaly determined by genetic factors that alter ectodermal structures such as skin, hair, nails, glands, and teeth. Children affected by this condition require extensive, comprehensive, and multidisciplinary treatment. An 8-year-old female patient visited the Dentistry Clinic of the Federal University of Santa Catarina with the chief complaint of multiple missing teeth. The mother reported that the patient had ED. Clinical and radiographic examination revealed the congenital absence of several primary and permanent teeth and tooth germs. Subsequent oral rehabilitation comprised the application of a maxillary denture and mandibular implant-supported fixed prosthesis. The child was also supplied with a wig for further enhancement of esthetics aimed at improving her emotional wellbeing. Psychological follow-up and speech therapy were also provided. After 4 years of follow-up, implant-supported oral rehabilitation has proved to be a satisfactory treatment option, allowing restoration of masticatory, phonetic, and esthetic function, as well as an improvement in the patient's self-esteem and social wellbeing.

What proportion of congenital abnormalities can be prevented?

PubMed Central

Czeizel, A E; Intôdy, Z; Modell, B

1993-01-01

OBJECTIVE--To estimate the proportion of preventable congenital abnormalities in Hungary. DESIGN--Analysis of available Hungarian data-bases and of the effectiveness of primary, secondary, and tertiary preventive methods. SETTING--Databases of ad hoc epidemiological studies and of the Hungarian congenital abnormality registry. MAIN OUTCOME MEASURES--Prevalence at birth and prevalence after prevention in 73 congenital abnormality types or groups. RESULTS--Preventive methods are available for 51 (70%) of the 73 congenital abnormality types or groups evaluated. The birth prevalence of all congenital abnormalities could be reduced from 65 to 26 per 1000; thus 39 per 1000 (60%) are preventable. Without congenital dislocation of the hip, which is unusually common in Hungary, the preventable proportion of congenital abnormalities is 52%. CONCLUSION--Many congenital abnormalities can be prevented, but as they do not represent a single pathological category there is no single strategy for their prevention. Images p502-a p503-a PMID:8448464

Epidemiology of congenital abnormalities in West Africa: Results of a descriptive study in teaching hospitals in Abidjan: Cote d'Ivoire.

PubMed

Kouame, Bertin Dibi; N'guetta-Brou, Isabelle Ama; Kouame, Guy Serge Yapo; Sounkere, Moufidath; Koffi, Maxime; Yaokreh, Jean Baptiste; Odehouri-Koudou, Thierry; Tembely, Samba; Dieth, Gaudens Atafi; Ouattara, Ossenou; Dick, Ruffin

2015-01-01

Congenital abnormalities constitute one of the major causes of infant mortality, particularly in developing countries. The aim of this study was to describe the epidemiology of congenital anomalies in Cote d'Ivoire. It was a multicentric study of three academic hospitals and the Heart Institute of Abidjan over 10 years. The epidemiologic Data concerned the Parturients, the annual frequency of congenital abnormalities. Distribution of the congenital abnormalities according to the organs, overall mortality and lethality of congenital abnormalities were evaluated. Over 10 years, 1.632 newborns with 1.725 congenital anomalies were recorded. Frequency was 172.5 congenital anomalies per annum. Parturients were less than 35 years in 33% of cases, multigravida in 20%, multiparous in 18% and had a low socio economic status in 96% of cases. Prenatal diagnosis of congenital anomalies was performed in 1.5%. Congenital anomalies were orthopedic in 34%, neurological in 17%, gastrointestinal in 15%, facial in 11.5%, parietal in 13%, urogenital in 9% and cardiac in 0.5% of cases. The overall mortality rate of congenital anomalies was 52% and gastroschisis was the most lethal disease with 100% mortality. This descriptive study reveals the low socio economic status of Parturients with congenital anomalies and their poor prenatal diagnosis. These factors explain the very high mortality of congenital anomalies due to a delay management in our country in which medical expenses were borne by parents and where technical platforms remain obsoletes for good resuscitation and neonatal surgery.

Prenatal chromosomal microarray analysis in fetuses with congenital heart disease: a prospective cohort study.

PubMed

Wang, Yan; Cao, Li; Liang, Dong; Meng, Lulu; Wu, Yun; Qiao, Fengchang; Ji, Xiuqing; Luo, Chunyu; Zhang, Jingjing; Xu, Tianhui; Yu, Bin; Wang, Leilei; Wang, Ting; Pan, Qiong; Ma, Dingyuan; Hu, Ping; Xu, Zhengfeng

2018-02-01

Currently, chromosomal microarray analysis is considered the first-tier test in pediatric care and prenatal diagnosis. However, the diagnostic yield of chromosomal microarray analysis for prenatal diagnosis of congenital heart disease has not been evaluated based on a large cohort. Our aim was to evaluate the clinical utility of chromosomal microarray as the first-tier test for chromosomal abnormalities in fetuses with congenital heart disease. In this prospective study, 602 prenatal cases of congenital heart disease were investigated using single nucleotide polymorphism array over a 5-year period. Overall, pathogenic chromosomal abnormalities were identified in 125 (20.8%) of 602 prenatal cases of congenital heart disease, with 52.0% of them being numerical chromosomal abnormalities. The detection rates of likely pathogenic copy number variations and variants of uncertain significance were 1.3% and 6.0%, respectively. The detection rate of pathogenic chromosomal abnormalities in congenital heart disease plus additional structural anomalies (48.9% vs 14.3%, P < .0001) or intrauterine growth retardation group (50.0% vs 14.3%, P = .044) was significantly higher than that in isolated congenital heart disease group. Additionally, the detection rate in congenital heart disease with additional structural anomalies group was significantly higher than that in congenital heart disease with soft markers group (48.9% vs 19.8%, P < .0001). No significant difference was observed in the detection rates between congenital heart disease with additional structural anomalies and congenital heart disease with intrauterine growth retardation groups (48.9% vs 50.0%), congenital heart disease with soft markers and congenital heart disease with intrauterine growth retardation groups (19.8% vs 50.0%), or congenital heart disease with soft markers and isolated congenital heart disease groups (19.8% vs 14.3%). The detection rate in fetuses with congenital heart disease plus mild ventriculomegaly was significantly higher than in those with other types of soft markers (50.0% vs 15.6%, P < .05). Our study suggests chromosomal microarray analysis is a reliable and high-resolution technology and should be used as the first-tier test for prenatal diagnosis of congenital heart disease in clinical practice. Copyright © 2017 Elsevier Inc. All rights reserved.

Experience with free fibula transfer with screw fixation as a primary modality of treatment for congenital pseudarthosis of tibia in children - Series of 26 cases

PubMed Central

Kalra, Guru Dayal Singh; Agarwal, Amit

2012-01-01

Background: Congenital pseudarthrosis is one of the greatest challenges of paediatric orthopaedic practice. Treatment options and literature addressing this condition are numerous, reflecting the difficulty in management. We aimed to study the effectiveness of free fibula transfer as a primary modality of treatment in children with this condition in terms of achieving length, union, and normal axis of the involved leg. Materials and Methods: During the period of 2001 to 2010, 26 children with congenital pseudarthrosis of tibia between age group of 2-8 years were evaluated and were reconstructed using contra-lateral free fibula graft, and then patients were followed up for 5 years subsequently. Patients were examined and time of bony union, weight bearing ability and walking without support were noted. Any complication directly or indirectly related to surgery with any complication seen in the due course of follow up of 5 years was also taken care of. Results: In our experience with treatment of congenital pseudarthrosis over a span of 10 years with free fibula transfer, the results have been gratifying with no flap loss. All our patients had UNEVENTFUL post-op recovery. Only 2 patients out of 26 had non-union, for which cancellous bone grafting was done (7.6%). Most of the patients were ambulatory with support by 3-6 months and continued to walk without support after a span of 18-24 months. The incidence of stress fracture in our study over the follow-up period was 4 out of 26 pts (15.3%). None of them had any deformity in the donor leg. Conclusion: When compared to other surgical modalities of treatment of the problem in question, vascularised free fibula transfer has emerged as a real saviour with good patient compliance and less complication rate in our study. It achieves the desired target with no residual deformities and near normal to normal gait with no stigma of bone removal from other leg. PMID:23450675

Reversible Congenital Hypogonadotropic Hypogonadism in Patients with CHD7, FGFR1 or GNRHR Mutations

PubMed Central

Laitinen, Eeva-Maria; Tommiska, Johanna; Sane, Timo; Vaaralahti, Kirsi; Toppari, Jorma; Raivio, Taneli

2012-01-01

Background Congenital hypogonadotropic hypogonadism (HH) is a rare cause for delayed or absent puberty. These patients may recover from HH spontaneously in adulthood. To date, it is not possible to predict who will undergo HH reversal later in life. Herein we investigated whether Finnish patients with reversal of congenital hypogonadotropic hypogonadism (HH) have common phenotypic or genotypic features. Methods and Findings Thirty-two male HH patients with anosmia/hyposmia (Kallmann Syndrome, KS; n = 26) or normal sense of smell (nHH; n = 6) were enrolled (age range, 18–61 yrs). The patients were clinically examined, and reversal of HH was assessed after treatment withdrawal. KAL1, FGFR1, FGF8, PROK2, PROKR2, CHD7, WDR11, GNRHR, GNRH1, KISS1R, KISS1, TAC3, TACR3, and LHβ were screened for mutations. Six HH patients (2 KS, 4 nHH) were verified to have reversal of HH. In the majority of cases, reversal occurred early in adulthood (median age, 23 yrs; range, 21–39 yrs). All had spontaneous testicular growth while on testosterone replacement therapy (TRT). One nHH subject was restarted on TRT due to a decline in serum T. Two reversal variants had a same GNRHR mutation (R262Q), which was accompanied by another GNRHR mutation (R139H or del309F). In addition, both of the KS patients had a mutation in CHD7 (p.Q51X) or FGFR1 (c.91+2T>A). Conclusions Considerable proportion of patients with HH (8% of KS probands) may recover in early adulthood. Spontaneous testicular enlargement during TRT was highly suggestive for reversal of HH. Those with the GNRHR mutation R262Q accompanied by another GNRHR mutation may be prone to reversal, although even patients with a truncating mutation in CHD7 or a splice-site mutation in FGFR1 can recover. We recommend that all adolescents and young adults with congenital HH should be informed on the possibility of reversal. PMID:22724017

A Homozygous Nme7 Mutation Is Associated with Situs Inversus Totalis.

PubMed

Reish, Orit; Aspit, Liam; Zouella, Arielle; Roth, Yehudah; Polak-Charcon, Sylvie; Baboushkin, Tatiana; Benyamini, Lilach; Scheetz, Todd E; Mussaffi, Huda; Sheffield, Val C; Parvari, Ruti

2016-08-01

We investigated the cause of situs inversus totalis (SIT) in two siblings from a consanguineous family. Genotyping and whole-exome analysis revealed a homozygous change in NME7, resulting in deletion of an exon causing an in-frame deletion of 34 amino acids located in the second NDK domain of the protein and segregated with the defective lateralization in the family. NME7 is an important developmental gene, and NME7 protein is a component of the γ-tubulin ring complex. This mutation is predicted to affect the interaction of NME7 protein with this complex as it deletes the amino acids crucial for the binding. SIT associated with homozygous deletion in our patients is in line with Nme7(-/-) mutant mice phenotypes consisting of congenital hydrocephalus and SIT, indicating a novel human laterality patterning role for NME7. Further cases are required to elaborate the full human phenotype associated with NME7 mutations. © 2016 WILEY PERIODICALS, INC.

Total Reconstruction of Lower Eyelid in a Post-traumatic Patient Using Modified Fricke's Cheek Flap.

PubMed

Sengupta, Subhabrata; Baruah, Binayak; Pal, Suvra; Tuli, Isha Preet

2013-07-01

Eyelids are very complex structure, reconstruction of which is a challenge to surgeons. Reconstruction of eyelids may be required in a variety of conditions like congenital anomalies, trauma, or postsurgical excision in malignant lesions involving the eyelids. There are numerous ways to reconstruct the eyelids; the best procedure depends on both the skill of the surgeon and the condition of the patient. Fricke' lateral temporal based flap was first described in 1829 for reconstruction of the eyelids and lateral canthal region. This flap had inherent problems regarding cosmetic appearance of the eyebrows. The modified Fricke's flap based on the cheek has the advantage of avoiding such complications. It is very easy and rapid outpatient department (OPD) based procedure with acceptable cosmetic and functional result. It can be done by all ear, nose, and throat (ENT) and head and neck surgeons without any reconstructive training. In this article we are presenting a case of total reconstruction of lower eyelid using the modified Fricke's cheek flap.

Congenital craniopharyngioma treated by radical surgery: case report and review of the literature.

PubMed

Kageji, Teruyoshi; Miyamoto, Takeshi; Kotani, Yumiko; Kaji, Tsuyoshi; Bando, Yoshimi; Mizobuchi, Yoshifumi; Nakajima, Kohei; Nagahiro, Shinji

2017-02-01

Craniopharyngiomas are 5-10 % of all pediatric tumors, but are seldomly encountered in the perinatal period. Only seven instances of a truly antenatal diagnosis of a congenital craniopharyngioma that subsequently underwent radical surgery have been reported. We present the case of a patient who received the diagnosis of a suprasellar tumor during the prenatal period and received radical surgery. We report a case of a neonatal craniopharyngioma treated surgically. The pregnancy progressed uneventfully until a routine ultrasound at 37 weeks of gestation showed a 15 × 15 mm high echoic mass in the center of the fetal head. Neonatal Gd-enhanced T1-weighted MRI at 5 days of life showed a homogenously enhanced mass (16×22×15 mm) in the sellar and suprasellar lesion. As the tumor showed rapid growth at the 3rd month of life, the patient underwent a surgical treatment and the mass was totally removed. Three years later, the physical and mental development of the patient was normal, and Gd-MRI studies showed no tumor recurrence. The present case is the eighth case of a truly antenatal diagnosis of a craniopharyngioma that underwent successful radical surgery. Craniopharyngioma is a benign tumor and thought to be a slow growing tumor in childhood. The results of radical surgery were very poor, and the mortality and morbidity rates were high in the previous reports due to the huge size of tumor at operation. The present case demonstrated the rapid growth in short interval of Gd-MRI. This is the first report of tumor kinetics of congenital craniopharyngioma with previous reports. The calculated tumor doubling time in our case was 37 days.

The savant syndrome and its possible relationship to epilepsy.

PubMed

Hughes, John R

2012-01-01

The goal of this chapter is to review the Savant syndrome (SS), characterized by outstanding islands of mental ability in otherwise handicapped individuals. Two forms exist: The congenital and acquired form. Among the many examples of the congenital form are the calendar calculators, who can quickly provide the day of the week for any date in the past. Other examples are the musical savants with perfect pitch and the hyperlexics, who (in one case) can read a page in 8 seconds and recall the text later at a 99% level. Other types of talents and artistic skills can be found, involving 3-D drawing, map memory, poetry, painting, sculpturing, including one savant who could recite without error the value of Pi to 22,514 places. The acquired form refers to the development of outstanding skills after some brain injury or disease, usually involving the left fronto-temporal area. This type of injury seems to inhibit the 'tyranny of the left hemisphere', allowing the right hemisphere to develop the savant skills. One other way to inhibit the left fronto-temporal area is to use transcranial magnetic stimulation in normal subjects and nearly one-half of these subjects can then perform new skills during the stimulation that they could not perform before. This type of finding indicates the potentiality in all of us for the development of savant skills under special circumstances. Explanations of the congenital SS include enhanced local connectivity as a compensation for underconnectivity of long-range fibers, but also weak central coherence, replaced by great attention to details, enhanced perceptual functioning and obsessive pre-occupation with specific interests. Neurodegenerative Diseases, edited by Shamim I. Ahmad.

Digital evaluation of orbital development after self-inflating hydrogel expansion in Chinese children with congenital microphthalmia.

PubMed

Hou, Zhijia; Xian, Junfang; Chang, Qinglin; Wei, Wenbin; Li, Dongmei

2016-05-01

Assessment of the growth of bony orbit in children with blind microphthalmia is essential to its management. In this study, variables were measured to evaluate the development of the bony microphthalmic orbits after treatment with self-inflating hydrogel expanders. This is a retrospective study with an interventional case series. Thirteen pediatric patients with congenital unilateral blind microphthalmia who had undergone tissue expansion with hydrogel expanders and computed tomography (CT) scanning before and after operation were included in the study. The orbital volume, depth, width, and height and retardation of the orbital rims before and after treatment were measured and analyzed using the iPlan Cranial Software. The mean age at the time of first implantation was 44 months (range, 3-113 months). Of the 13 patients, eleven received orbital expansion, while two received socket expansion. In the orbital expansion group, the mean microphthalmic/contralateral ratio (MCR) of orbital volume was 79.3% before surgery, which increased to 89.8% 3 years post operation (P < 0.001). The mean MCR of orbital width also increased from 88.8% to 91.8% (P = 0.003). The development of inferior and lateral rims showed the greatest retardation before treatment; the retardation of these two rims decreased significantly at the final measurement (P = 0.004). It is also noted that the development of the microphthalmic orbits was limited in the two patients who only underwent socket expansion. The affected orbit enlarged in children with congenital blind microphthalmia following treatment with hydrogel expanders; this suggested that microphthalmia-associated orbital asymmetry can be treated with self-inflating hydrogel expanders. Copyright © 2016 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

Evaluation of radiography as a screening method for detection and characterisation of congenital vertebral malformations in dogs.

PubMed

Brocal, Josep; De Decker, Steven; José-López, Roberto; Guevar, Julien; Ortega, Maria; Parkin, Tim; Ter Haar, Gert; Gutierrez-Quintana, Rodrigo

2018-05-19

Congenital vertebral malformations (CVM) are common in brachycephalic 'screw-tailed' dogs; they can be associated with neurological deficits and a genetic predisposition has been suggested. The purpose of this study was to evaluate radiography as a screening method for congenital thoracic vertebral malformations in brachycephalic 'screw-tailed' dogs by comparing it with CT. Forty-nine dogs that had both radiographic and CT evaluations of the thoracic vertebral column were included. Three observers retrospectively reviewed the images independently to detect CVMs. When identified, they were classified according to a previously published radiographic classification scheme. A CT consensus was then reached. All observers identified significantly more affected vertebrae when evaluating orthogonal radiographic views compared with lateral views alone; and more affected vertebrae with the CT consensus compared with orthogonal radiographic views. Given the high number of CVMs per dog, the number of dogs classified as being CVM free was not significantly different between CT and radiography. Significantly more midline closure defects were also identified with CT compared with radiography. Malformations classified as symmetrical or ventral hypoplasias on radiography were frequently classified as ventral and medial aplasias on CT images. Our results support that CT is better than radiography for the classification of CVMs and this will be important when further evidence of which are the most clinically relevant CVMs is identified. These findings are of particular importance for designing screening schemes of CVMs that could help selective breeding programmes based on phenotype and future studies. © British Veterinary Association (unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Pulmonary Right Ventricular Resynchronization in Congenital Heart Disease: Acute Improvement in Right Ventricular Mechanics and Contraction Efficiency.

PubMed

Janoušek, Jan; Kovanda, Jan; Ložek, Miroslav; Tomek, Viktor; Vojtovič, Pavel; Gebauer, Roman; Kubuš, Peter; Krejčíř, Miroslav; Lumens, Joost; Delhaas, Tammo; Prinzen, Frits

2017-09-01

Electromechanical discoordination may contribute to long-term pulmonary right ventricular (RV) dysfunction in patients after surgery for congenital heart disease. We sought to evaluate changes in RV function after temporary RV cardiac resynchronization therapy. Twenty-five patients aged median 12.0 years after repair of tetralogy of Fallot and similar lesions were studied echocardiographically (n=23) and by cardiac catheterization (n=5) after primary repair (n=4) or after surgical RV revalvulation for significant pulmonary regurgitation (n=21). Temporary RV cardiac resynchronization therapy was applied in the presence of complete right bundle branch block by atrial-synchronized RV free wall pacing in complete fusion with spontaneous ventricular depolarization using temporary electrodes. The q-RV interval at the RV free wall pacing site (mean 77.2% of baseline QRS duration) confirmed pacing from a late activated RV area. RV cardiac resynchronization therapy carried significant decrease in QRS duration ( P <0.001) along with elimination of the right bundle branch block QRS morphology, increase in RV filling time ( P =0.002), pulmonary artery velocity time integral ( P =0.006), and RV maximum +dP/dt ( P <0.001), and decrease in RV index of myocardial performance ( P =0.006). RV mechanical synchrony improved: septal-to-lateral RV mechanical delay decreased ( P <0.001) and signs of RV dyssynchrony pattern were significantly abolished. RV systolic stretch fraction reflecting the ratio of myocardial stretching and contraction during systole diminished ( P =0.001). In patients with congenital heart disease and right bundle branch block, RV cardiac resynchronization therapy carried multiple positive effects on RV mechanics, synchrony, and contraction efficiency. © 2017 American Heart Association, Inc.

Accuracy of the all patient refined diagnosis related groups classification system in congenital heart surgery.

PubMed

Parnell, Aimee S; Shults, Justine; Gaynor, J William; Leonard, Mary B; Dai, Dingwei; Feudtner, Chris

2014-02-01

Administrative data are increasingly used to evaluate clinical outcomes and quality of care in pediatric congenital heart surgery (CHS) programs. Several published analyses of large pediatric administrative data sets have relied on the All Patient Refined Diagnosis Related Groups (APR-DRG, version 24) diagnostic classification system. The accuracy of this classification system for patients undergoing CHS is unclear. We performed a retrospective cohort study of all 14,098 patients 0 to 5 years of age undergoing any of six selected congenital heart operations, ranging in complexity from isolated closure of a ventricular septal defect to single-ventricle palliation, at 40 tertiary-care pediatric centers in the Pediatric Health Information Systems database between 2007 and 2010. Assigned APR-DRGs (cardiac versus noncardiac) were compared using χ2 or Fisher's exact tests between those patients admitted during the first day of life versus later and between those receiving extracorporeal membrane oxygenation support versus those not. Recursive partitioning was used to assess the greatest determinants of APR-DRG type in the model. Every patient admitted on day 1 of life was assigned to a noncardiac APR-DRG (p<0.001 for each procedure). Similarly, use of extracorporeal membrane oxygenation was highly associated with misclassification of CHS patients into a noncardiac APR-DRG (p<0.001 for each procedure). Cases misclassified into a noncardiac APR-DRG experienced a significantly increased mortality (p<0.001). In classifying patients undergoing CHS, APR-DRG coding has systematic misclassifications, which may result in inaccurate reporting of CHS case volumes and mortality. Copyright © 2014 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

Catheter interventional treatment of congenital portosystemic venous shunts in childhood.

PubMed

Knirsch, Walter; Benz, Dominik C; Bühr, Patrick; Quandt, Daniel; Weber, Roland; Kellenberger, Christian; Braegger, Christian P; Kretschmar, Oliver

2016-06-01

The study aimed on the catheter interventional treatment of congenital portosystemic venous shunt (CPSVS) in childhood and the impact on vascular growth of hypoplastic portal veins. Clinical course and follow up of partial or complete closure of CPSVS are described. CPSVS is a very rare vascular malformation of the portal venous drainage resulting in potentially life threatening abdominal, pulmonary, cerebral, and cardiac complications. The anatomic type, clinical course, and diagnosis must be determined for optimal management. Single centre case series. Eight (6 female) children with extrahepatic (n = 5) and intrahepatic (n = 3) CPSVS were diagnosed invasively by catheterization, including test balloon occlusion of the shunt and simultaneous retrograde angiography, and treated by catheter interventions (n = 5) with partial (n = 2) and complete (n = 3) occlusion of CPSVS at a median age of 3.9 years (range 0.7-21). Congenital heart disease (CHD) was the most frequent associated organ manifestation (n = 5) followed by mild to severe pulmonary arterial hypertension (n = 4), hepatopulmonary syndrome (n = 2), and portosystemic encephalopathy (n = 1). CHD was simple (n = 3) or complex type (n = 2). Three patients were untreated so far, because they were in excellent clinical condition at an age <1 year, refused treatment, or planned for later treatment. Accurate invasive diagnosis of CPSVS with test balloon occlusion of the shunt is mandatory to depict the anatomic situation. Catheter interventional treatment of CPSVS offers a feasible and safe approach with complete or partial closure of the vascular malformation inducing potentially significant vascular growth of a former hypoplastic portal venous system. © 2015 Wiley Periodicals, Inc. © 2015 Wiley Periodicals, Inc.

Are Patients with Spontaneous CSF Otorrhea and Superior Canal Dehiscence Congenitally Predisposed to Their Disorders?

PubMed

Stevens, Shawn M; Hock, Kiefer; Samy, Ravi N; Pensak, Myles L

2018-04-01

Objectives (1) Compare lateral skull base (LSB) height/thickness in patients with spontaneous cerebrospinal fluid otorrhea (CSF), superior canal dehiscence (SCD), acoustic neuromas (AN), and otosclerosis (OTO). (2) Perform correlations between age, body mass index (BMI), sex, and LSB height/thickness. Study Design Case series with chart review. Setting Tertiary referral center. Subjects and Methods Patients with CSF, SCD, AN, and OTO diagnosed from 2006 to 2016 were included if they had high-definition temporal bone computed tomography (CT) and absence of trauma, radiation, chronic ear disease, and/or congenital anomaly. CT-based measurements included LSB height/thickness and pneumatization rates overlaying the external auditory canal (EAC), tegmen tympani (TgT), perigeniculate region (PG), and internal auditory canal (IAC). LSB height/thickness, age, sex, and BMI were statistically correlated. In total, 256 patients and 493 ears (109 CSF, 115 SCD, 269 AN/OTO) were measured. Results Patients with CSF had significantly higher BMIs than the other groups ( P < .001). Patients with CSF and SCD had similar radiographic LSB phenotypes at most measured locations. Both groups exhibited a significantly lower LSB height compared to the AN and OTO groups (mean, 3.9-4.2 mm vs 4.9-5.6 mm; P < .001). Patients with CSF and SCD also demonstrated significantly lower pneumatization rates, as low as 17% to 23% overlaying the PG and IAC ( P < .001). There were no statistically significant correlations found between age, sex, BMI, and LSB height/thickness at any measurement location in any group. Conclusions Patients with CSF and SCD exhibit similar radiographic LSB phenotypes. Age, sex, and BMI do not significantly correlate with LSB height/thickness. These data support the theory that CSF and SCD arise via similar congenital pathoetiologic mechanisms.

Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability.

PubMed

Gauthier-Vasserot, Alexandra; Thauvin-Robinet, Christel; Bruel, Ange-Line; Duffourd, Yannis; St-Onge, Judith; Jouan, Thibaud; Rivière, Jean-Baptiste; Heron, Delphine; Donadieu, Jean; Bellanné-Chantelot, Christine; Briandet, Claire; Huet, Frédéric; Kuentz, Paul; Lehalle, Daphné; Duplomb-Jego, Laurence; Gautier, Elodie; Maystadt, Isabelle; Pinson, Lucile; Amram, Daniel; El Chehadeh, Salima; Melki, Judith; Julia, Sophia; Faivre, Laurence; Thevenon, Julien

2017-01-01

Neutropenia can be qualified as congenital when of neonatal onset or when associated with extra-hematopoietic manifestations. Overall, 30% of patients with congenital neutropenia (CN) remain without a molecular diagnosis after a multidisciplinary consultation and tedious diagnostic strategy. In the rare situations when neutropenia is identified and associated with intellectual disability (ID), there are few diagnostic hypotheses to test. This retrospective multicenter study reports on a clinically heterogeneous cohort of 10 unrelated patients with CN associated with ID and no molecular diagnosis prior to whole-exome sequencing (WES). WES provided a diagnostic yield of 40% (4/10). The results suggested that in many cases neutropenia and syndromic manifestations could not be assigned to the same molecular alteration. Three sub-groups of patients were highlighted: (i) severe, symptomatic chronic neutropenia, detected early in life, and related to a known mutation in the CN spectrum (ELANE); (ii) mild to moderate benign intermittent neutropenia, detected later, and associated with mutations in genes implicated in neurodevelopmental disorders (CHD2, HUWE1); and (iii) moderate to severe intermittent neutropenia as a probably undiagnosed feature of a newly reported syndrome (KAT6A). Unlike KAT6A, which seems to be associated with a syndromic form of CN, the other reported mutations may not explain the entire clinical picture. Although targeted gene sequencing can be discussed for the primary diagnosis of severe CN, we suggest that performing WES for the diagnosis of disorders associating CN with ID will not only provide the etiological diagnosis but will also pave the way towards personalized care and follow-up. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

ACR Appropriateness Criteria® Multiple Gestations.

PubMed

Glanc, Phyllis; Nyberg, David A; Khati, Nadia J; Deshmukh, Sandeep Prakash; Dudiak, Kika M; Henrichsen, Tara Lynn; Poder, Liina; Shipp, Thomas D; Simpson, Lynn; Weber, Therese M; Zelop, Carolyn M

2017-11-01

Women with twin or higher-order pregnancies will typically have more ultrasound examinations than women with a singleton pregnancy. Most women will have at minimum a first trimester scan, a nuchal translucency evaluation scan, fetal anatomy scan at 18 to 22 weeks, and one or more scans in the third trimester to evaluate growth. Multiple gestations are at higher risk for preterm delivery, congenital anomalies, fetal growth restriction, placenta previa, vasa previa, and velamentous cord insertion. Chorionicity and amnionicity should be determined as early as possible when a twin pregnancy is identified to permit triage of the monochorionic group into a closer surveillance model. Screening for congenital heart disease is warranted in monochorionic twins because they have an increased rate of congenital cardiac anomalies. In addition, monochorionic twins have a higher risk of developing cardiac abnormalities in later gestation related to right ventricular outflow obstruction, in particular the subgroups with twin-twin transfusion syndrome or selective intrauterine growth restriction. Monochorionic twins have unique complications including twin-to-twin transfusion syndrome, twin embolization syndrome, and acardius, or twin-reversed arterial perfusion sequence. The American College of Radiology Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed annually by a multidisciplinary expert panel. The guideline development and revision include an extensive analysis of current medical literature from peer reviewed journals and the application of well-established methodologies (RAND/UCLA Appropriateness Method and Grading of Recommendations Assessment, Development, and Evaluation or GRADE) to rate the appropriateness of imaging and treatment procedures for specific clinical scenarios. In those instances where evidence is lacking or equivocal, expert opinion may supplement the available evidence to recommend imaging or treatment. Copyright © 2017 American College of Radiology. Published by Elsevier Inc. All rights reserved.

Noble gas Records of Early Evolution of the Earth

NASA Astrophysics Data System (ADS)

Ozima, M.; Podoesk, F. A.

2001-12-01

Comparison between atmospheric noble gases (except for He) and solar (or meteoritic) noble gases clearly suggests that the Earth should have much more Xe than is present in air, and thus that up to about 90 percent of terrestrial Xe is missing from the Earth (1). In this report, we discuss implications of these observations on I-Pu chronology of the Earth and on the origin of terrestrial He3. Whetherill (2) first noted that an estimated I129/I127 ratio (3x10-6) in the proto-Earth was about two orders of magnitude smaller than values commonly observed in meteorites (10-4), and pointed out the possibility that Earth formation postdated meteorites by about 100Ma. Ozima and Podosek (1999) came to a similar conclusion on the basis of I129/I127-Pu244/U238 systematics (1). In this report, we reexamine I-Pu systematics with new data for crustal I content (295 ppb for a bulk crust, (3)). With imposition of an estimated value of 86 percent missing Xe as a constraint on terrestrial Xe inventory, we conclude that the best estimate for a formation age of the Earth is about 28Ma after the initial condensation of the solar nebula (at 4.57Ga). The formation age thus estimated is significantly later than the generally assumed age of meteorites. We also argue from the I-Pu systematics that the missing Xe became missing place about 120Ma after Earth formation. Assuming that the Earth is mostly degassed, the I-Pu formation age of the Earth can be reasonably assumed to represent a whole Earth event. Therefore, we interpret that the I-Pu age of the Earth represents the time when the Earth started to retain noble gases. More specifically, this may correspond to the time when the proto-Earth attained a sufficient size to exert the necessary gravitational force. A giant impact could be another possibility, but it remains to be seen whether or not a giant impact could quantitatively remove heavier noble gases from the Earth. It is interesting to speculate that missing Xe was sequestered in the core during core formation. Core formation time would then be related to the time of the missing Xe event. The above estimated missing Xe age is close to the core formation age suggested from Nb-Zr systematics (4) and from U-Pb systematics (5), but considerably later than that suggested from Hf-W systematics (6). From a comparison of relative elemental abundance of noble gases between the Earth and the solar composition, we show that terrestrial He3 may be totally unrelated to heavier noble gases. This requires independent origin of terrestrial He3 from heavy noble gases. 1.Ozima M. and Podosek F.A. (1999) JGR, 104(BII), 25493. 2.Whetherill G.W. (1975) Ann. Rev. Nuclear Science, 25, 283. 3.Muramatsu Y. and Wedepohl K.H. (1998) Chemical Geology, 147, 201. 4. Jacobsen S.B. and Yin Q.Z. (2001) Lunar Planetary Science, XXXII, 1961.pdf (abstract). 5.Galer S.J.G. and Goldstein S.L. (1995) in Geophysical Monograph 95, 75-98, AGU. 6.Halliday A.N., Lee D.-C. and Jacobsen S.B. (2000) in Origin of the Earth and Moon, 45-62, Univ. Arizona Press.

Congenital heart defects and extracardiac malformations.

PubMed

Rosa, Rosana Cardoso M; Rosa, Rafael Fabiano M; Zen, Paulo Ricardo G; Paskulin, Giorgio Adriano

2013-06-01

To review the association between congenital heart defects and extracardiac malformations. Scientific articles were searched in the Medline, Lilacs, and SciELO databases, using the descriptors "congenital heart disease," "congenital heart defects," "congenital cardiac malformations," "extracardiac defects," and "extracardiac malformations." All case series that specifically explored the association between congenital heart defects and extracardiac malformations were included. Congenital heart diseases are responsible for about 40% of birth defects, being one of the most common and severe malformations. Extracardiac malformations are observed in 7 to 50% of the patients with congenital heart disease, bringing a greater risk of comorbidity and mortality and increasing the risks related to heart surgery. Different studies have attempted to assess the presence of extracardiac abnormalities in patients with congenital heart disease. Among the changes described, those of the urinary tract are more often reported. However, no study has evaluated all patients in the same way. Extracardiac abnormalities are frequent among patients with congenital heart disease, and patients with these alterations may present an increased risk of morbimortality. Therefore, some authors have been discussing the importance and cost-effectiveness of screening these children for other malformations by complementary exams.

History of the Congenital Heart Surgeons' Society.

PubMed

Mavroudis, Constantine; Williams, William G

2015-10-01

The Congenital Heart Surgeons' Society is a group of over 100 pediatric heart surgeons representing 72 institutions that specialize in the treatment of patients with congenital heart defects. The Society began in 1972 and incorporated as a not-for-profit charitable organization in 2004. It has become the face and voice of congenital heart surgery in North America. In 1985, the Society established a data center for multicenter clinical research studies to encourage congenital heart professionals to participate in improving outcomes for our patients. The goals of the Congenital Heart Surgeons' Society are to stimulate the study of congenital cardiac physiology, pathology, and management options which are instantiated in data collection, multi-institutional studies, and scientific meetings. Honest and open discussion of problems with possible solutions to the challenges facing congenital heart professionals have been the strength of the Congenital Heart Surgeons' Society. It is imperative for the growth of an organization to know from where it came in order to know to where it is going. The purpose of this article is to review the history of the Congenital Heart Surgeons' Society. © The Author(s) 2015.

Instrumentation and fusion for congenital spine deformities.

PubMed

Hedequist, Daniel J

2009-08-01

A retrospective clinical review. To review the use of modern instrumentation of the spine for congenital spinal deformities. Spinal instrumentation has evolved since the advent of the Harrington rod. There is a paucity of literature, which discusses the use of modern spinal instrumentation in congenital spine deformity cases. This review focuses on modern instrumentation techniques for congenital scoliosis and kyphosis. A systematic review was performed of the literature to discuss spinal implant use for congenital deformities. Spinal instrumentation may be safely and effectively used in cases of congenital spinal deformity. Spinal surgeons taking care of children with congenital spine deformities need to be trained in all aspects of modern spinal instrumentation.

Epidemiology of congenital abnormalities in West Africa: Results of a descriptive study in teaching hospitals in Abidjan: Cote d’Ivoire

PubMed Central

Kouame, Bertin Dibi; N’guetta-Brou, Isabelle Ama; Kouame, Guy Serge Yapo; Sounkere, Moufidath; Koffi, Maxime; Yaokreh, Jean Baptiste; Odehouri-Koudou, Thierry; Tembely, Samba; Dieth, Gaudens Atafi; Ouattara, Ossenou; Dick, Ruffin

2015-01-01

Background: Congenital abnormalities constitute one of the major causes of infant mortality, particularly in developing countries. The aim of this study was to describe the epidemiology of congenital anomalies in Cote d’Ivoire. Materials and Methods: It was a multicentric study of three academic hospitals and the Heart Institute of Abidjan over 10 years. The epidemiologic Data concerned the Parturients, the annual frequency of congenital abnormalities. Distribution of the congenital abnormalities according to the organs, overall mortality and lethality of congenital abnormalities were evaluated. Results: Over 10 years, 1.632 newborns with 1.725 congenital anomalies were recorded. Frequency was 172.5 congenital anomalies per annum. Parturients were less than 35 years in 33% of cases, multigravida in 20%, multiparous in 18% and had a low socio economic status in 96% of cases. Prenatal diagnosis of congenital anomalies was performed in 1.5%. Congenital anomalies were orthopedic in 34%, neurological in 17%, gastrointestinal in 15%, facial in 11.5%, parietal in 13%, urogenital in 9% and cardiac in 0.5% of cases. The overall mortality rate of congenital anomalies was 52% and gastroschisis was the most lethal disease with 100% mortality. Conclusion: This descriptive study reveals the low socio economic status of Parturients with congenital anomalies and their poor prenatal diagnosis. These factors explain the very high mortality of congenital anomalies due to a delay management in our country in which medical expenses were borne by parents and where technical platforms remain obsoletes for good resuscitation and neonatal surgery. PMID:25659551

Early Orthodontic Tooth Movement into Regenerative Bony Defects: A Case Report.

PubMed

Tsai, Hui-Chen; Yao, Chung-Chen Jane; Wong, Man-Ying

Early orthodontic tooth movement following regenerative surgery is controversial. In this case, during protraction of the maxillary right first premolar to substitute for the long-term missing maxillary right canine, Bio-Oss and Bio-Gide were used for lateral ridge augmentation at the area of the maxillary right lateral incisor and to cover the denuded surface at the buccal side of the first premolar. Orthodontic tooth movement (OTM) commenced 2 weeks after regenerative surgery. After 8 months, new bone formation was observed on the root surface of the first premolar during implant surgery. A cone beam computed tomography scan taken 1.5 years postsurgery revealed good maintenance of regenerative bone at the same site. This satisfactory outcome of early OTM following regenerative surgery suggests biomechanical stimulation may not jeopardize the regenerative effect.

Risk of specific congenital abnormalities in offspring of women with diabetes.

PubMed

Nielsen, G L; Nørgard, B; Puho, E; Rothman, K J; Sørensen, H T; Czeizel, A E

2005-06-01

To assess the extent to which the increased risk of congenital abnormalities seen in women with pre-gestational insulin-treated diabetes mellitus is unspecific or related to the embryology of specific organs. Cases with congenital abnormalities were identified in the population-based Hungarian Congenital Abnormality Registry from 1980 to 1996 with two newborn children without congenital abnormality selected from the National Birth Registry as controls. We adjusted for parity, maternal age, and use of antipsychotic drugs. Among cases we found 63/22,843 babies with maternal diabetes compared with 50/38,151 in the control group [adjusted prevalence odds ratio (POR) 2.1; 95% CI 1.5-3.1]. The association was strongest for the following congenital abnormalities: renal agenesis (POR: 14.8; 95% CI, 3.5-62.1), obstructive congenital abnormalities of the urinary tract (POR: 4.3; 95% CI, 1.3-13.9), cardiovascular congenital abnormalities (POR: 3.4; 95% CI, 2.0-5.7), and multiple congenital abnormalities (POR: 5.0; 95% CI, 2.4-10.2). These data indicate that pre-gestational maternal diabetes is associated with strong teratogenic effects on the kidney, urinary tract, and heart, and strongly associated with multiple congenital abnormalities. We found no material association between diabetes and spinal congenital abnormalities and limb deficiencies.

Congenital heart disease infant death rates decrease as gestational age advances from 34 to 40 weeks.

PubMed

Cnota, James F; Gupta, Resmi; Michelfelder, Erik C; Ittenbach, Richard F

2011-11-01

To describe congenital heart disease death rates in infants born between 34 and 40 weeks, estimate the relationship between gestational age and congenital heart disease infant death rates, and compare congenital heart disease death rates across 1- and 2-week intervals in gestational age. The 2000 to 2003 national linked birth/infant death cohort datasets were obtained. Congenital heart disease deaths were identified by using International Statistical Classification of Diseases, 10th Revision codes. Proportional death rates were calculated by using congenital heart disease deaths and all live births. The relationship between congenital heart disease death rates and gestational age was determined. Death rates were compared across intervals. A total of 14.9 million records were analyzed. Congenital heart disease deaths occurred in 4736 infants (0.04%) born between 34 and 40 weeks. There was a significant, negative linear relationship between congenital heart disease death rate and gestational age (R(2) = 0.97). Comparisons across 1-week intervals varied (P = .02-.23). All 2-week intervals were statistically significant (P < .01). Congenital heart disease death rates decrease as gestational age approaches 40 weeks. These results should be considered before elective delivery for the sole indication of prenatally diagnosed congenital heart disease. Copyright © 2011 Mosby, Inc. All rights reserved.

Genetics Home Reference: congenital hypothyroidism

MedlinePlus

... Facebook Twitter Home Health Conditions Congenital hypothyroidism Congenital hypothyroidism Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Congenital hypothyroidism is a partial or complete loss of function ...

Review Recent progress in identification and characterization of loci associated with sex-linked congenital cataract.

PubMed

Zhang, D D; Du, J Z; Topolewski, J; Wang, X M

2016-07-29

Congenital cataract is a common cause of blindness in children; however, its pathogenesis remains unclear. Genetic factors have been shown to play an important role in the pathogenesis of congenital cataract. The current genetic models of congenital cataract include autosomal dominant, autosomal recessive, and sex-linked inheritance. Sex-linked congenital cataract could be inherited through the X or Y chromosome. Congenital cataract is a symptom associated with several X-linked disorders, including Nance-Horan syndrome, Lowe syndrome, Conradi-Hünermann-Happle syndrome, oculo-facio-cardio-dental syndrome, and Alport syndrome. On the other hand, the mechanism and characteristics of Y-linked congenital cataract remains to be identified. Despite its rarity, sex-linked congenital cataract has been known to seriously affect the quality of life of patients. In this review, we present our current understanding of the genes and loci associated with sex-linked congenital cataract. This could help identify novel approaches for the prevention, early diagnosis, and comprehensive disease treatment.

The effect of canine characteristics and symmetry on perceived smile attractiveness when canine teeth are substituted for lateral incisors.

PubMed

Rayner, Wendy Jane; Barber, Sophy K; Spencer, Richard James

2015-03-01

To determine the effect of canine tooth characteristics and symmetry on perceived smile attractiveness when maxillary canine teeth are substituted for missing lateral incisors. Prospective, cross-sectional study. Non-clinical study undertaken from Leeds Dental Institute, UK. A composite full-face image of a smiling female was used to display various dentitions; a control image with an 'ideal' smile, plus six further images substituting the maxillary lateral incisors with canine teeth either unilaterally or bilaterally with varying size, shape, colour and gingival margin level. The seven images were shown to orthodontists (n = 30), dentists (n = 30) and lay people (n = 30) who were asked to rate smile attractiveness using a visual analogue scale. Dental professionals rated smiles with canine substitution for lateral incisor agenesis to be significantly less attractive than an ideal smile unless the substituted canine teeth approximated the lateral incisor in terms of size, shape, colour and gingival margin. Lay people did not find smiles where canine teeth were substituted for lateral incisors significantly more or less attractive than an ideal smile regardless of the canine tooth characteristics. Dental professionals were significantly more perceptive than lay people to the deviation from ideal smile aesthetics due to canine substitution. Smiles with unilateral canine substitution were not found to be significantly less attractive than bilateral canine substitution by all groups. Canine characteristics and observer status will affect how canine substitution for lateral incisor agenesis is viewed in terms of aesthetic outcome.

Genetics Home Reference: congenital hepatic fibrosis

MedlinePlus

... Home Health Conditions Congenital hepatic fibrosis Congenital hepatic fibrosis Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description Congenital hepatic fibrosis is a disease of the liver that is ...

Mortality throughout early childhood for Michigan children born with congenital anomalies, 1992-1998.

PubMed

Berger, Katherine H; Zhu, Bao-Ping; Copeland, Glenn

2003-09-01

Congenital anomalies are a leading cause of infant deaths, accounting for almost a fifth of all infant deaths. Few studies have researched the survival experience of infants born with congenital anomalies past the infant stage. Using birth and death files routinely linked to the Michigan Birth Defects Registry, we identified all singleton infants during calendar years 1992 through 1998 with reportable congenital anomalies for our study. A comparative file of children born without congenital anomalies during the same time period was developed using linked birth and death files. The mortality data were assessed by age at death (through age six) and race to determine mortality rates, relative risks, hazard ratios, and survival trends. Throughout early childhood, children born with congenital anomalies had a high risk of mortality compared with all other children. The overall 7-year hazard ratio comparing children with congenital anomalies with all other children was 7.2. Overall mortality rates for black children were significantly higher than white children through the age of seven, irrespective of whether they had congenital anomalies. Among children with congenital anomalies, this disparity disappeared after adjusting for birth weight, sex, mother's age, mother's education, and number of organ systems affected. Compared with children without congenital anomalies, children born with congenital anomalies had a higher risk of mortality well beyond the infant period. Racial disparities in mortality rates among children with congenital anomalies were due to confounding factors.

Precision targeting in guided munition using IR sensor and MmW radar

NASA Astrophysics Data System (ADS)

Sreeja, S.; Hablani, H. B.; Arya, H.

2015-10-01

Conventional munitions are not guided with sensors and therefore miss the target, particularly if the target is mobile. The miss distance of these munitions can be decreased by incorporating sensors to detect the target and guide the munition during flight. This paper is concerned with a Precision Guided Munition(PGM) equipped with an infrared sensor and a millimeter wave radar [IR and MmW, for short]. Three-dimensional flight of the munition and its pitch and yaw motion models are developed and simulated. The forward and lateral motion of a target tank on the ground is modeled as two independent second-order Gauss-Markov process. To estimate the target location on the ground and the line-of-sight rate to intercept it an Extended Kalman Filter is composed whose state vector consists of cascaded state vectors of missile dynamics and target dynamics. The line-of-sight angle measurement from the infrared seeker is by centroiding the target image in 40 Hz. The centroid estimation of the images in the focal plane is at a frequency of 10 Hz. Every 10 Hz, centroids of four consecutive images are averaged, yielding a time-averaged centroid, implying some measurement delay. The miss distance achieved by including by image processing delays is 1:45m.

Precision targeting in guided munition using infrared sensor and millimeter wave radar

NASA Astrophysics Data System (ADS)

Sulochana, Sreeja; Hablani, Hari B.; Arya, Hemendra

2016-07-01

Conventional munitions are not guided with sensors and therefore miss the target, particularly if the target is mobile. The miss distance of these munitions can be decreased by incorporating sensors to detect the target and guide the munition during flight. This paper is concerned with a precision guided munition equipped with an infrared (IR) sensor and a millimeter wave radar (MmW). Three-dimensional flight of the munition and its pitch and yaw motion models are developed and simulated. The forward and lateral motion of a target tank on the ground is modeled as two independent second-order Gauss-Markov processes. To estimate the target location on the ground and the line-of-sight (LOS) rate to intercept it, an extended Kalman filter is composed whose state vector consists of cascaded state vectors of missile dynamics and target dynamics. The LOS angle measurement from the IR seeker is by centroiding the target image in 40 Hz. The centroid estimation of the images in the focal plane is at a frequency of 10 Hz. Every 10 Hz, centroids of four consecutive images are averaged, yielding a time-averaged centroid, implying some measurement delay. The miss distance achieved by including image processing delays is 1.45 m.

A Sparse Dictionary Learning-Based Adaptive Patch Inpainting Method for Thick Clouds Removal from High-Spatial Resolution Remote Sensing Imagery

PubMed Central

Yang, Xiaomei; Zhou, Chenghu; Li, Zhi

2017-01-01

Cloud cover is inevitable in optical remote sensing (RS) imagery on account of the influence of observation conditions, which limits the availability of RS data. Therefore, it is of great significance to be able to reconstruct the cloud-contaminated ground information. This paper presents a sparse dictionary learning-based image inpainting method for adaptively recovering the missing information corrupted by thick clouds patch-by-patch. A feature dictionary was learned from exemplars in the cloud-free regions, which was later utilized to infer the missing patches via sparse representation. To maintain the coherence of structures, structure sparsity was brought in to encourage first filling-in of missing patches on image structures. The optimization model of patch inpainting was formulated under the adaptive neighborhood-consistency constraint, which was solved by a modified orthogonal matching pursuit (OMP) algorithm. In light of these ideas, the thick-cloud removal scheme was designed and applied to images with simulated and true clouds. Comparisons and experiments show that our method can not only keep structures and textures consistent with the surrounding ground information, but also yield rare smoothing effect and block effect, which is more suitable for the removal of clouds from high-spatial resolution RS imagery with salient structures and abundant textured features. PMID:28914787

A Sparse Dictionary Learning-Based Adaptive Patch Inpainting Method for Thick Clouds Removal from High-Spatial Resolution Remote Sensing Imagery.

PubMed

Meng, Fan; Yang, Xiaomei; Zhou, Chenghu; Li, Zhi

2017-09-15

Cloud cover is inevitable in optical remote sensing (RS) imagery on account of the influence of observation conditions, which limits the availability of RS data. Therefore, it is of great significance to be able to reconstruct the cloud-contaminated ground information. This paper presents a sparse dictionary learning-based image inpainting method for adaptively recovering the missing information corrupted by thick clouds patch-by-patch. A feature dictionary was learned from exemplars in the cloud-free regions, which was later utilized to infer the missing patches via sparse representation. To maintain the coherence of structures, structure sparsity was brought in to encourage first filling-in of missing patches on image structures. The optimization model of patch inpainting was formulated under the adaptive neighborhood-consistency constraint, which was solved by a modified orthogonal matching pursuit (OMP) algorithm. In light of these ideas, the thick-cloud removal scheme was designed and applied to images with simulated and true clouds. Comparisons and experiments show that our method can not only keep structures and textures consistent with the surrounding ground information, but also yield rare smoothing effect and block effect, which is more suitable for the removal of clouds from high-spatial resolution RS imagery with salient structures and abundant textured features.

Optimal strategies in the neighborhood of a collision course

NASA Technical Reports Server (NTRS)

Gutman, S.; Leitmann, G.

1976-01-01

We consider a simple differential game between pursuer P and evader E in the neighborhood of a nominal collision course. The payoff is the terminal lateral miss-distance. The control of each player is his acceleration normal to his velocity vector, and both players' controls are bounded. Saddlepoint strategies are deduced for three combinations of the acceleration bounds and are shown to be related to the sign of the derivative of the orientation of the line of sight (L.O.S.).