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Sample records for marfan syndrome study

  1. Marfan Syndrome

    MedlinePlus

    ... Connective tissue helps support all parts of your body. It also helps control how your body grows and develops. Marfan syndrome most often affects ... A mutation, or change, in the gene that controls how the body makes fibrillin causes Marfan syndrome. Fibrillin is a ...

  2. Marfan Syndrome

    MedlinePlus

    Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, blood vessels, and other organs. One of these proteins is fibrillin. A problem with the ...

  3. Marfan syndrome (image)

    MedlinePlus

    ... abnormalities, which may include enlargement (dilatation) of the base of the aorta. Since Marfan syndrome is usually an inherited disorder, prospective parents with a family history of Marfan syndrome should get genetic counseling.

  4. Myelopathy in Marfan's syndrome

    PubMed Central

    Newman, P. K.; Tilley, P. J. B.

    1979-01-01

    A patient with Marfan's syndrome and a myelopathy is reported, and the association of multiple spinal arachnoid cysts noted. It is proposed that the basic connective tissue defect in Marfan's syndrome may predispose to the formation of arachnoid diverticuli and that in this case spinal cord damage was the sequel. Images PMID:422966

  5. What Is Marfan Syndrome?

    MedlinePlus

    ... symptoms get worse as the person gets older. Skeleton People with Marfan syndrome are often very tall, ... can help treat and sometimes prevent related problems. Skeleton Getting a yearly exam of the spine and ...

  6. Living with Marfan Syndrome

    MedlinePlus

    ... live longer and enjoy a good quality of life. Many people who have Marfan syndrome and are ... tears and leaks blood. Aortic dissection is a life-threatening condition. The main symptom of aortic dissection ...

  7. Marfan syndrome: current perspectives

    PubMed Central

    Pepe, Guglielmina; Giusti, Betti; Sticchi, Elena; Abbate, Rosanna; Gensini, Gian Franco; Nistri, Stefano

    2016-01-01

    Marfan syndrome (MFS) is a pleiotropic connective tissue disease inherited as an autosomal dominant trait, due to mutations in the FBN1 gene encoding fibrillin 1. It is an important protein of the extracellular matrix that contributes to the final structure of a microfibril. Few cases displaying an autosomal recessive transmission are reported in the world. The FBN1 gene, which is made of 66 exons, is located on chromosome 15q21.1. This review, after an introduction on the clinical manifestations that leads to the diagnosis of MFS, focuses on cardiovascular manifestations, pharmacological and surgical therapies of thoracic aortic aneurysm and/or dissection (TAAD), mechanisms underlying the progression of aneurysm or of acute dissection, and biomarkers associated with progression of TAADs. A Dutch group compared treatment with losartan, an angiotensin II receptor-1 blocker, vs no other additional treatment (COMPARE clinical trial). They observed that losartan reduces the aortic dilatation rate in patients with Marfan syndrome. Later on, they also reported that losartan exerts a beneficial effect on patients with Marfan syndrome carrying an FBN1 mutation that causes haploinsufficiency (quantitative mutation), while it has no significant effect on patients displaying dominant negative (qualitative) mutations. Moreover, a French group in a 3-year trial compared the administration of losartan vs placebo in patients with Marfan syndrome under treatment with beta-receptor blockers. They observed that losartan decreases blood pressure but has no effect on aortic diameter progression. Thus, beta-receptor blockers remain the gold standard therapy in patients with Marfan syndrome. Three potential biochemical markers are mentioned in this review: total homocysteine, serum transforming growth factor beta, and lysyl oxidase. Moreover, markers of oxidative stress measured in plasma, previously correlated with clinical features of Marfan syndrome, may be explored as potential

  8. Genetics Home Reference: Marfan syndrome

    MedlinePlus

    ... the layers in the aorta wall ( aortic dissection ). Aortic aneurysm and dissection can be life threatening. Many people ... Dissection MedlinePlus Encyclopedia: Marfan Syndrome MedlinePlus Encyclopedia: Thoracic Aortic Aneurysm National Marfan Foundation: Diagnosis These resources from MedlinePlus ...

  9. Marfan's Syndrome: Detection and Management.

    ERIC Educational Resources Information Center

    Cantwell, John D.

    1986-01-01

    Marfan's Syndrome, a disorder of connective tissue, has gained increased attention since the death of volleyball star Flo Hyman. This article reviews the disease and discusses methods of detection and management. (Author/MT)

  10. Observational Cohort Study of Ventricular Arrhythmia in Adults with Marfan Syndrome Caused by FBN1 Mutations

    PubMed Central

    Sheikhzadeh, Sara; Keyser, Britta; Rybczynski, Meike; Sondermann, Claudia; Detter, Christian; Steven, Daniel; Robinson, Peter N.; Berger, Jürgen; Schmidtke, Jörg; Blankenberg, Stefan; Willems, Stephan; von Kodolitsch, Yskert; Hoffmann, Boris A.

    2013-01-01

    Background Marfan syndrome is associated with ventricular arrhythmia but risk factors including FBN1 mutation characteristics require elucidation. Methods and Results We performed an observational cohort study of 80 consecutive adults (30 men, 50 women aged 42±15 years) with Marfan syndrome caused by FBN1 mutations. We assessed ventricular arrhythmia on baseline ambulatory electrocardiography as >10 premature ventricular complexes per hour (>10 PVC/h), as ventricular couplets (Couplet), or as non-sustained ventricular tachycardia (nsVT), and during 31±18 months of follow-up as ventricular tachycardia (VT) events (VTE) such as sudden cardiac death (SCD), and sustained ventricular tachycardia (sVT). We identified >10 PVC/h in 28 (35%), Couplet/nsVT in 32 (40%), and VTE in 6 patients (8%), including 3 with SCD (4%). PVC>10/h, Couplet/nsVT, and VTE exhibited increased N-terminal pro–brain natriuretic peptide serum levels(P<.001). All arrhythmias related to increased NT-proBNP (P<.001), where PVC>10/h and Couplet/nsVT also related to increased indexed end-systolic LV diameters (P = .024 and P = .020), to moderate mitral valve regurgitation (P = .018 and P = .003), and to prolonged QTc intervals (P = .001 and P = .006), respectively. Moreover, VTE related to mutations in exons 24–32 (P = .021). Kaplan–Meier analysis corroborated an association of VTE with increased NT-proBNP (P<.001) and with mutations in exons 24–32 (P<.001). Conclusions Marfan syndrome with causative FBN1 mutations is associated with an increased risk for arrhythmia, and affected persons may require life-long monitoring. Ventricular arrhythmia on electrocardiography, signs of myocardial dysfunction and mutations in exons 24–32 may be risk factors of VTE. PMID:24349050

  11. Psychosocial adaptation in adolescents and young adults with Marfan syndrome: an exploratory study.

    PubMed

    Van Tongerloo, A; De Paepe, A

    1998-05-01

    We conducted a pilot study to evaluate the psychological effects and consequences of Marfan syndrome in 17 patients between 16 and 35 years of age. Through a semi-structured interview, we investigated how the patients coped daily with Marfan syndrome and evaluated the impact of the disease on specific items such as schooling, occupational choices, self-image, and social behaviour. A second part of the study consisted of a battery of standardised psychological tests to evaluate the patients' anxiety and depression levels and coping styles. The following psychological tests were used: State and Trait Anxiety Inventory (STAI), Beck Depression Inventory (BDI), and the Utrecht Coping List (UCL). The interviews showed that the disease represented a significant burden on the daily physical activities of the patients, as well as on their schooling and job opportunities. During childhood, most of them were insensitively teased by peers because of their typical phenotypic features. This had its consequences on their social behaviour in that they are all more introvert. In the female patients, the risk associated with child bearing represented a major concern. Most patients emphasised the need for accurate information about the illness immediately after knowing the diagnosis and all found psychological support helpful. Depression and anxiety levels were higher in the female than in the male group, without being significantly different from the normal population. Nevertheless, most patients have come to terms with their disease and consider themselves happy most of the time. PMID:9610804

  12. The Marfan Syndrome: A Booklet for Teachers.

    ERIC Educational Resources Information Center

    Bernhardt, Barbara A.

    This booklet explains characteristics of Marfan Syndrome, an inherited disorder of connective tissue which can be life-threatening if untreated. Medical problems affecting various parts of the body such as the heart, the skeleton, the eyes and the skin associated with Marfan Syndrome are discussed. Possible medical emergencies are identified.…

  13. Questions & Answers about...Marfan Syndrome.

    ERIC Educational Resources Information Center

    National Inst. of Arthritis and Musculoskeletal and Skin Diseases (NIH), Bethesda, MD.

    This fact sheet answers general questions about Marfan syndrome, a heritable condition that affects the connective tissue. It describes the characteristics of the disorder, the diagnostic process, and ways to manage symptoms. Characteristics include: (1) people with Marfan syndrome are typically very tall, slender, and loose jointed; (2) more than…

  14. [Clinical aspects of Marfan syndrome].

    PubMed

    Belsing, Tina Zimmermann; Lund, Allan Meldgaard; Søndergaard, Lars; Friis-Hansen, Lennart; Abildstrøm, Steen Zabell

    2011-01-31

    Marfan syndrome (MFS) and MFS-related diseases are inherited connective tissue disorders involving several organ systems. The diagnosis of MFS is difficult as the many symptoms overlap with those of other systemic connective tissue diseases. The phenotype is progressive. Effective surgical therapy and standardized follow-up programs have led to an improved lifespan for the affected individuals. Selective angiotensin II, type 1 (AT1) blockers may improve several manifestations of MFS, but the outcome of clinical trials is presently unknown. This review describes the importance of a coordinated strategy for diagnosis, treatment and follow-up. PMID:21276396

  15. Periodontal conditions in patients with Marfan syndrome – a multicenter case control study

    PubMed Central

    2013-01-01

    Background Marfan syndrome (MFS) is a disorder of the connective tissues. Alterations of the elastic fibers may manifest in different tissues especially in the skeletal, cardiovascular and ocular system. Oral manifestations like orthodontic or skeletal anomalies and fragility of the temporomandibular joint have been well described by various authors. However, no data are available regarding a possible periodontal involvement of MFS. Hence, the aim of the present study was to investigate for the first time if MFS may increase the susceptibility to periodontitis. Methods A comprehensive periodontal examination including documentation of probing pocket depth, gingival recession, clinical attachment level, and bleeding on probing was conducted in all patients. In addition, dental conditions were assessed by determining the Index for Decayed, Missing and Filled Teeth (DMFT) and a self-administered questionnaire was filled out by patients. For statistical analysis, the unpaired t-Test was applied (level of significance: p < 0.05). Both groups were matched concerning well known periodontal risk factors like age, gender and smoking habits. Results 82 participants, 51 patients with MFS (30 female and 21 male, mean age: 40.20 ± 15.35 years) and 31 sound controls (17 female and 14 male, mean age: 40.29 ± 13.94 years), were examined. All assessed periodontal and dental parameters were not significantly different between groups. Conclusions Based on our data, patients with MFS did not reveal a higher prevalence of periodontitis compared to the control group. However, Marfan patients showed a tendency to more inflammation signs, which can be explained by the crowded teeth. Therefore, a regular professional cleaning of the teeth is recommendable (i.e., 6 months intervals) in order to reduce the bacterial biofilm in the oral cavity and thus resulting in a decreased risk of systemic diseases, specifically endocarditis. PMID:24165013

  16. The Marfan Syndrome [and] Fact Sheet.

    ERIC Educational Resources Information Center

    Pyeritz, Reed E.; Conant, Julia

    This introduction to the Marfan syndrome, a heritable disorder of connective tissue primarily affecting the bones and ligaments, eyes, cardiovascular system, and lungs, is intended for a general audience. The question-and-answer format was chosen by individuals with the syndrome to reflect their major questions and concerns. It incorporates the…

  17. Marfan Syndrome and Related Heritable Thoracic Aortic Aneurysms and Dissections.

    PubMed

    De Backer, Julie; Renard, Marjolijn; Campens, Laurence; Mosquera, Laura Muino; De Paepe, Anne; Coucke, Paul; Callewaert, Bert; Kodolitsch, Yskert von

    2015-01-01

    In this overview we aim to address a number of recent insights and developments regarding clinical aspects, etiology, and treatment of Heritable Thoracic Aortic Disease (H-TAD). We will focus on monogenetic disorders related to aortic aneurysms. H-TADs are rare but they provide a unique basis for the study of underlying pathogenetic pathways in the complex disease process of aneurysm formation. The understanding of pathomechanisms may help us to identify medical treatment targets to improve prognosis. Among the monogenetic aneurysm disorders, Marfan syndrome is considered as a paradigm entity and many insights are derived from the study of clinical, genetic and animal models for Marfan syndrome. We will therefore first provide a detailed overview of the various aspects of Marfan syndrome after which we will give an overview of related H-TAD entities. PMID:26306841

  18. Circulating TGFβ in Marfan's Syndrome

    PubMed Central

    Matt, Peter; Schoenhoff, Florian; Habashi, Jennifer; Holm, Tammy; Van Erp, Christel; Loch, David; Carlson, Olga D.; Griswold, Benjamin F.; Fu, Qin; De Backer, Julie; Loeys, Bart; Huso, David; McDonnell, Nazli B.; Van Eyk, Jennifer E.; Dietz, Harry C.

    2009-01-01

    Background Marfan syndrome (MFS) is caused by mutations in the fibrillin-1 gene and dysregulation of transforming growth factor β (TGFβ). Recent evidence suggests that losartan, an AT1 blocker that blunts TGFβ activation, may be an effective treatment for MFS. We hypothesized that dysregulation of TGFβ might be mirrored in circulating TGFβ concentrations. Methods and Results Serum obtained from MFS mutant mice (Fbn1C1039G/+) treated with losartan was analyzed for circulating TGFβ1 concentrations, and compared to those from placebo treated and wild-type mice. Aortic root size was measured by echocardiography. Data was validated in patients with MFS and healthy individuals. In mice, circulating total TGFβ1 concentrations increased with age and were elevated in older untreated Fbn1C1039G/+ mice compared to wild-type mice (P=0.01; n=16, mean±SEM 115±8 ng/ml vs. n=17, 92±4 ng/ml). Losartan-treated Fbn1C1039G/+ mice had lower total TGFβ1 concentrations compared to age-matched Fbn1C1039G/+ mice treated with placebo (P=0.01; n=18, 90±5 ng/ml), and circulating total TGFβ1 levels were indistinguishable from those of age-matched wild-type mice (P=0.8). Correlation was observed between circulating TGFβ1 levels and aortic root diameters in Fbn1C1039G/+ and wild-type mice (P=0.002). In humans, circulating total TGFβ1 concentrations were elevated in patients with MFS compared to control individuals (P<0.0001; n=53, 15±1.7 ng/ml vs. n=74, 2.5±0.4 ng/ml). MFS patients treated with losartan (n=55) or β-blocker (n=80) showed significantly lower total TGFβ1 concentrations compared to untreated Marfans (P≤0.05). Conclusions Circulating TGFβ1 concentrations are elevated in MFS, decrease after administration of losartan and/or β-blocker therapy, and therefore might serve as prognostic and therapeutic marker in MFS. PMID:19635970

  19. LEOPARD syndrome is not linked to the Marfan syndrome and the Watson syndrome loci

    SciTech Connect

    Rass-Rothchild, A.: Abeliovitch, D.; Kornstein, A. |

    1994-09-01

    The acronym LEOPARD stands for a syndromic association of Lentigines, Eletrocardiographic changes, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia, Retardation of growth and sensorineural Deafness. Inheritance is autosomal dominant with high penetrance and variable expressivity. In 1990 Torok et al. reported on the association of LEOPARD and Marfan syndrome. In addition a clinical similarity (cardiac and cutaneous involvement) exists with the Watson syndrome (neurofibromatosis and pulmonic stenosis) which is linked to the marker D17S33 on chromosome 17. We studied possible linkage of LEOPARD syndrome to the Marfan syndrome locus on chromosome 15 (D15S1, MF13, and (TAAAA)n repeats) and to the NF-1 locus on chromosome 17 in a family with 9 cases of LEOPARD syndrome. Close linkage between LEOPARD syndrome and both the Marfan locus on chromosome 15 and the NF-1 locus on chromosome 17 was excluded (lod score <-2.0 through {theta} = 0.1).

  20. Neonatal Marfan Syndrome: Report of Two Cases

    PubMed Central

    Ghandi, Yazdan; S.Zanjani, Keyhan; Mazhari-Mousavi, Seyed-Eshagh; Parvaneh, Nima

    2013-01-01

    Background Neonatal Marfan syndrome is a rare and severe phenotype of this disease. A poor prognosis is anticipated due to the high probability of congestive heart failure, and mitral and tricuspid regurgitations with suboptimal response to medical therapy and difficulties in surgical management at an early age. Case Presentation We present two consecutive patients with this disease who are the first reported cases from Iran to the best of our knowledge. Unfortunately both of them died shortly after diagnosis. Conclusion Neonatal Marfan syndrome is reported from Iran and has a poor prognosis like the patients reported from elsewhere. PMID:23549323

  1. Unilateral microfibrillar abnormalities in a case of asymmetric Marfan syndrome.

    PubMed Central

    Godfrey, M; Olson, S; Burgio, R G; Martini, A; Valli, M; Cetta, G; Hori, H; Hollister, D W

    1990-01-01

    The Marfan syndrome is a dominantly inherited connective-tissue disorder characterized by ocular, cardiovascular, and musculoskeletal abnormalities. Although the underlying biochemical and molecular defect(s) of this pleiotropic disease is currently unknown, we have consistently observed apparent diminished content of elastin-associated microfibrillar fibers accumulating in skin, or produced by cultured fibroblasts, from patients with the Marfan syndrome and have documented the cosegregation of these immunofluorescent abnormalities of microfibrillar fibers with the Marfan syndrome phenotype in family studies. Recently, an unusual patient has been described with unilateral phenotypic features of the Marfan syndrome, providing an unique opportunity to compare microfibrillar fibers and other connective-tissue components between the affected and nonaffected sides. In the present report, we demonstrate striking differences in apparent content of microfibrillar fibers, as determined by indirect immunofluorescence of skin and fibroblast cultures, that are revealed when multiple homologous samples derived from different sides of the patient's body are compared. In contrast, no differences in apparent content of type III collagen or in the biosynthesis and apparent structure of types I and III (pro)collagens were found. HLA types and chromosome heteromorphisms were identical in fibroblasts from both sides of the body, eliminating the formal possibility of chimerism and suggesting that a postzygotic mutation accounts for the asymmetric manifestation of the Marfan syndrome in this patient. The observation of striking decreases in microfibrillar fibers on the affected side of the body provides further evidence that abnormalities of this component of the elastic fiber system may be central to the pathogenesis and possibly the etiology of the Marfan syndrome. Images Figure 5 Figure 4 Figure 1 Figure 2 Figure 3 Figure 6 PMID:2180285

  2. Preimplantation genetic testing for Marfan syndrome.

    PubMed

    Harton, G L; Tsipouras, P; Sisson, M E; Starr, K M; Mahoney, B S; Fugger, E F; Schulman, J D; Kilpatrick, M W; Levinson, G; Black, S H

    1996-09-01

    Marfan syndrome (MFS) is an autosomal dominant disease that affects the skeletal, ocular and cardiovascular systems. Defects in the gene that codes for fibrillin (FBN-1) are responsible for MFS. Here we report the world's first use of preimplantation genetic testing (PGT) to achieve a clinical pregnancy and live birth of a baby free of a Marfan mutation. One or two blastomeres from each embryo were tested for a CA repeat within the FBN-1 gene. The prospective mother is homozygous for the CA repeat (2/2) and has two normal copies of the FBN-1 gene, while the prospective father is heterozygous for the CA repeat (1/2), and is affected with the Marfan syndrome. In the father's family, allele 2 segregates with the mutated FBN-1 gene. For PGT, any embryo diagnosed as heterozygous for the CA repeat (1/2) would be presumed to have inherited normal FBN-1 genes from the father and the mother and be unaffected. One in-vitro fertilization (IVF) cycle yielded 12 embryos for preimplantation testing; six of the embryos were heterozygous for the CA repeat (1/2) and presumed to be free of the Marfan mutation. Five of the six embryos were subsequently transferred into the uterus. The fetus was tested by chorionic villus sampling and found to be free of the Marfan mutation by the same linkage analysis, had a normal fetal echocardiogram, and was normal at birth.

  3. Impact of aortic aneurysm on hospitalizations in patients with marfan syndrome: a multi-institutional study.

    PubMed

    Collins, R Thomas; Phomakay, Venusa; Zarate, Yuri A; Tang, Xinyu

    2015-01-01

    Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder affecting 1 in 3,000 people. Cardiovascular involvement is a prominent feature of MFS, with aortic dissection and/or rupture being the leading cause of death. Advances in the medical and surgical care of patients with MFS have improved survival. Hospital resource utilization and outcomes have not been evaluated in a large population of patients with MFS. We sought to analyze pediatric hospital resource utilization and outcomes in patients with MFS. Nationally distributed data from 43 pediatric hospitals in the 2004-2011 Pediatric Health Information System database were used to identify patients admitted to the hospital with International Classification of Diseases-9th Revision codes for a diagnosis of MFS. Aortic aneurysm (AA) with or without dissection, length of stay (LOS), and hospital charges were determined. During the study period, there were 1,978 admissions in 1,228 patients with MFS. AA was present in 217 (11%) admissions in 188 (15%) patients (63% male). Mean age of patients with AA was 13.8 ± 5.9 years. Aortic dissection or rupture was present in 15 (7% with AA) admissions in 15 (8% with AA) patients (mean age 15.7 ± 5.2 years). Other cardiac diagnoses occurred more commonly in the AA cohort (p < 0.0001), regardless of the reason for admission. Cardiothoracic surgical procedures were performed in 116 AA admissions (53%). Mean LOS, hospital charges per admission, and charges per day were significantly higher in AA cohort compared to those without AA. In-hospital mortality for AA was 2%. The presence of AA in patients with MFS increases hospital resource utilization. Cardiothoracic surgeries are commonly performed in this cohort. Other cardiovascular diagnoses are more prevalent in patients with AA suggesting a more severe phenotype.

  4. Cardiovascular Magnetic Resonance in Marfan syndrome

    PubMed Central

    2013-01-01

    This review provides an overview of Marfan syndrome with an emphasis on cardiovascular complications and cardiovascular imaging. Both pre- and post-operative imaging is addressed with an explanation of surgical management. All relevant imaging modalities are discussed with a particular focus on cardiovascular MR. PMID:23587220

  5. Marfan syndrome: No evidence for heterogeneity in different populations, and more precise mapping of the gene

    PubMed Central

    Kainulainen, Katariina; Steinmann, Beat; Collins, Francis; Dietz, Harry C.; Francomano, Clair A.; Child, Anne; Kilpatrick, Michael W.; Brock, David J. H.; Keston, Marion; Pyeritz, Reed E.; Peltonen, Leena

    1991-01-01

    Marfan syndrome is a dominantly inherited connective tissue disorder with manifestations in the cardiovascular, ocular, and skeletal systems. The diagnosis is hampered by both high variability in the phenotypic expression and late manifestation of symptoms. The cause of Marfan syndrome remains unknown, but our group has recently reported the genetic linkage of Marfan syndrome to a polymorphic marker on chromosome 15. To analyze the possible heterogeneity behind Marfan syndrome, we have performed linkage analyses for four chromosome 15 markers in 17 families from five different populations: Scottish, English, Swiss, American, and Finnish. By combining the linkage data of all the studied families into a LINKMAP analysis we obtained a maximal LOD score of 11.2, which maps the Marfan syndrome locus between D15S25 and D15S45 on the long arm of chromosome 15. The data reveal no evidence for genetic heterogeneity behind Marfan syndrome and provide us with a more precise location of both the Marfan syndrome locus and flanking markers. This information will provide the basis for the DNA diagnostics of Marfan syndrome in the future. PMID:1882844

  6. Marfan syndrome: An eyesight of syndrome☆

    PubMed Central

    Kumar, Ashok; Agarwal, Sarita

    2014-01-01

    Marfan syndrome (MFS), a relatively common autosomal dominant hereditary disorder of connective tissue with prominent manifestations in the skeletal, ocular, and cardiovascular systems, is caused by mutations in the glycoprotein gene fibrillin-1 (FBN1). Aortic root dilation and mitral valve prolapse are the main presentations among the cardiovascular malformations of MFS. The revised Ghent diagnostics nosology of Marfan syndrome is established in accordance with a combination of major and minor clinical manifestations in various organ systems and the family history. The pathogenesis of Marfan syndrome has not been fully elucidated. However, fibrillin-1 gene mutations are believed to exert a dominant negative effect. The treatment includes prophylactic β-blockers and angiotensin II-receptor blockers in order to slow down the dilation of the ascending aorta and prophylactic aortic surgery. Importantly, β-blocker therapy may reduce TGF-β activation, which has been recognized as a contributory factor in MFS. The identification of a mutation allows for early diagnosis, prognosis, genetic counseling, preventive management of carriers and reassurance for unaffected relatives. The importance of knowing in advance the location of the putative family mutation is highlighted by its straightforward application to prenatal and postnatal screening. The present article aims to provide an overview of this rare hereditary disorder. PMID:25606393

  7. Quantifying Health Status and Function in Marfan Syndrome.

    PubMed

    Rao, Sandesh S; Venuti, Kristen D; Dietz, Harry C; Sponseller, Paul D

    2016-01-01

    Two hundred thirty patients were prospectively enrolled in this study and completed various portions of the Short Form 36 and a study-specific questionnaire (visual analog scale 1 to 10, comprising three separate questionnaires) to evaluate quality of life and function in patients with Marfan syndrome. The greatest health concern was cardiac problems (high in 70% of patients), followed by spine issues and generalized fatigue (both high, in 53%). The most severe reported pain involved the back: 105 patients (46%) rated pain as 6 to 10 on the visual analog scale. Among the 72 patients who responded to work life questions, work hours were reduced because of treatment in 59 (82%) or directly because of Marfan syndrome in 29 (40%). Across all Short Form 36 domains, patients scored significantly lower than United States population norms (p<.05); physical health scores were considerably lower than mental health scores. PMID:27082886

  8. Craniofacial manifestations in the Marfan syndrome: palatal dimensions and a comparative cephalometric analysis.

    PubMed

    Westling, L; Mohlin, B; Bresin, A

    1998-01-01

    The purpose of this study was to determine how the craniofacial morphology, evaluated from dental casts and lateral cephalograms, in individuals affected by the Marfan syndrome diverge from healthy control groups. The high and narrow palatal vault as well as maxillary and mandibular retrognathy were strongly correlated to the syndrome. About 70% of the Marfan syndrome patients (n = 76) had been referred for orthodontic treatment, mostly because of crowded teeth or extreme maxillary overjet. In 36%, the orthodontic treatment was carried out before diagnosis or suspicion about the Marfan syndrome. In comparison to healthy orthodontic patients (n = 86), selected because of presence of high and narrow palatal vaults, crowding of teeth, extreme maxillary overjet, and open bite were much more prevalent in the Marfan syndrome patients than in the orthodontic control group.

  9. Aortic wall shear stress in Marfan syndrome.

    PubMed

    Geiger, Julia; Arnold, Raoul; Herzer, Lena; Hirtler, Daniel; Stankovic, Zoran; Russe, Max; Langer, Mathias; Markl, Michael

    2013-10-01

    The aim of this study was to quantify changes in thoracic aortic wall shear stress (WSS) in asymptomatic patients with Marfan syndrome (MFS) compared with healthy controls. WSS in the thoracic aorta was quantified based on time-resolved 3D phase contrast MRI with three-directional velocity encoding (4D flow MRI, temporal resolution ∼44 ms, spatial resolution ∼2.5 mm) in 24 patients with confirmed MFS (age = 18 ± 12 years) and in 12 older healthy volunteers (age = 25 ± 3 years). Diameters of the thoracic aorta normalized to body surface area were similar for both groups. Peak systolic velocity, absolute WSS, time-averaged WSS, circumferential WSS, peak systolic WSS, and WSS eccentricity were calculated in eight analysis planes distributed along the thoracic aorta. Plane-wise comparison revealed significant differences between MFS patients and volunteers in the proximal ascending aorta for peak systolic velocities (1.11 ± 0.23 m/s vs. 1.34 ± 0.18 m/s, P = 0.004) and circumferential WSS (0.14 ± 0.03 N/m(2) vs. 0.11 ± 0.02 N/m(2), P = 0.007). WSS eccentricity was altered in most of the ascending aorta and proximal arch (P = 0.009-0.020). MFS patients demonstrated segmental differences in peak systolic WSS with a significantly higher WSS at the inner curvature in the proximal ascending aorta and at the anterior part in the more distal ascending aorta (P < 0.01). These findings indicate differences in WSS associated with MFS despite similar aortic dimensions compared to controls.

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

    PubMed Central

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

    2015-01-01

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

  11. Engineered mutations in fibrillin-1 leading to Marfan syndrome act at the protein, cellular and organismal levels.

    PubMed

    Zeyer, Karina A; Reinhardt, Dieter P

    2015-01-01

    Fibrillins are the major components of microfibrils in the extracellular matrix of elastic and non-elastic tissues. They are multi-domain proteins, containing primarily calcium binding epidermal growth factor-like (cbEGF) domains and 8-cysteine/transforming growth factor-beta binding protein-like (TB) domains. Mutations in the fibrillin-1 gene give rise to Marfan syndrome, a connective tissue disorder with clinical complications in the cardiovascular, skeletal, ocular and other organ systems. Here, we review the consequences of engineered Marfan syndrome mutations in fibrillin-1 at the protein, cellular and organismal levels. Representative point mutations associated with Marfan syndrome in affected individuals have been introduced and analyzed in recombinant fibrillin-1 fragments. Those mutations affect fibrillin-1 on a structural and functional level. Mutations which impair folding of cbEGF domains can affect protein trafficking. Protein folding disrupted by some mutations can lead to defective secretion in mutant fibrillin-1 fragments, whereas fragments with other Marfan mutations are secreted normally. Many Marfan mutations render fibrillin-1 more susceptible to proteolysis. There is also evidence that some mutations affect heparin binding. Few mutations have been further analyzed in mouse models. An extensively studied mouse model of Marfan syndrome expresses mouse fibrillin-1 with a missense mutation (p.C1039G). The mice display similar characteristics to human patients with Marfan syndrome. Overall, the analyses of engineered mutations leading to Marfan syndrome provide important insights into the pathogenic molecular mechanisms exerted by mutated fibrillin-1. PMID:26281765

  12. Severe neonatal marfan syndrome resulting from a De Novo 3-bp insertion into the fibrillin gene on chromosome 15

    SciTech Connect

    Milewicz, D.M.; Duvic, M. )

    1994-03-01

    Severe neonatal Marfan syndrome has features of the Marfan syndrome and congenital contractural arachnodactyly present at birth, along with unique features such as loose, redundant skin and pulmonary emphysema. Since the Marfan syndrome and congenital contractural arachnodactyly are due to mutations in different genes, it has been uncertain whether neonatal Marfan syndrome is due to mutations in the fibrillin gene on chromosome 15 or in another gene. The authors studied an infant with severe neonatal Marfan syndrome. Dermal fibroblasts were metabolically labeled and found to secrete fibrillin inefficiently when compared with control cells. Reverse transcription and amplification of the proband's fibroblast RNA was used to identify a 3-bp insertion between nucleotides 480-481 or 481-482 of the fibrillin cDNA. The insertion maintains the reading frame of the protein and inserts a cysteine between amino acids 160 and 161 in an epidermal growth-factor-like motif of fibrillin. This 3-bp insertion was not found in the fibrillin gene in 70 unrelated, unaffected individuals and 11 unrelated individuals with the Maran syndrome. The authors conclude that neonatal Marfan syndrome is the result of mutations in the fibrillin gene on chromosome 15 and is part of the Marfan syndrome spectrum. 32 refs., 3 figs.

  13. A novel mutation of the fibrillin-1 gene in a newborn with severe Marfan syndrome.

    PubMed

    Kochilas, L; Gundogan, F; Atalay, M; Bliss, J M; Vatta, M; Pena, L S; Abuelo, D

    2008-04-01

    Marfan syndrome in the neonatal age represents a severe early and commonly lethal manifestation of Marfan syndrome, which is caused by mutations in the gene encoding fibrillin-1 (FBN1). Here, we report a newborn with severe Marfan syndrome and a novel mutation involving cysteine substitution within one of the epidermal growth factor-like domains of FBN1.

  14. Preventing the aortic complications of Marfan syndrome: a case-example of translational genomic medicine

    PubMed Central

    Li-Wan-Po, Alain; Loeys, Bart; Farndon, Peter; Latham, David; Bradley, Caroline

    2011-01-01

    The translational path from pharmacological insight to effective therapy can be a long one. We aim to describe the management of Marfan syndrome as a case-example of how pharmacological and genomic insights can contribute to improved therapy. We undertook a literature search for studies of Marfan syndrome, to identify milestones in description, understanding and therapy of the syndrome. From the studies retrieved we then weaved an evidence-based description of progress. Marfan syndrome shows considerable heterogeneity in clinical presentation. It relies on defined clinical criteria with confirmation based on FBN1 mutation testing. Surgical advances have prolonged life in Marfan syndrome. First-line prophylaxis of complications with β-adrenoceptor blockers became established on the basis that reduction of aortic pressure and heart rate would help. Over-activity of proteinases, first suggested in 1980, has since been confirmed by evidence of over-expression of matrix metalloproteinases (MMP), notably MMP-2 and MMP-9. The search for MMP inhibitors led to the evaluation of doxycycline, and both animal studies and small trials, provided early evidence that this widely used antimicrobial agent was useful. Identification of the importance of TGF-β led to evaluation of angiotensin II type I receptor (AT1R) blockers with highly promising results. Combination prophylactic therapy would appear rational. Pharmacological and genomic research has provided good evidence that therapy with losartan and doxycycline would prevent the aortic complications of Marfan syndrome. If on-going well designed trials confirm their efficacy, the outlook for Marfan syndrome patients would be improved considerably. PMID:21276043

  15. Marfan syndrome presenting with headache and coincidental ophthalmic artery aneurysm.

    PubMed

    Vandersteen, Anthony Martin; Kenny, Joanna; Khan, Naheed L; Male, Alison

    2013-01-01

    A 24-year-old Ugandan woman was referred for a neurology opinion after complaining of a year long history of right-sided retro-orbital stabbing pain. Brain imaging revealed a coincidental 3 mm left ophthalmic artery aneurysm. Marfanoid habitus was noted; after further investigations she was diagnosed with mild aortic root dilatation, subtle lens dislocation and Marfan syndrome. Her symptoms were secondary to temporomandibular joint dysfunction, an under-recognised complication of Marfan syndrome. Her ophthalmic artery aneurysm is likely to be a coincidental finding. PMID:23505274

  16. Epidural analgesia complicated by dural ectasia in the Marfan syndrome

    PubMed Central

    Gray, Chelsea; Hofkamp, Michael P.; Noonan, Patrick T.; McAllister, Russell K.; Pilkinton, Kimberly A.; Diao, Zhiying

    2016-01-01

    Patients with the Marfan syndrome are considered to be high risk during pregnancy and warrant a complete multidisciplinary evaluation. One goal is to minimize hemodynamic fluctuations during labor since hypertensive episodes may result in aortic dissection or rupture. Although they may prevent these complications, neuraxial techniques may be complicated by dural ectasia. The case of a parturient with the Marfan syndrome and mild dural ectasia is presented. During attempted labor epidural placement, unintentional dural puncture occurred. A spinal catheter was used for adequate labor analgesia, and a resultant postdural puncture headache was alleviated by an epidural blood patch under fluoroscopic guidance.

  17. Epidural analgesia complicated by dural ectasia in the Marfan syndrome

    PubMed Central

    Gray, Chelsea; Hofkamp, Michael P.; Noonan, Patrick T.; McAllister, Russell K.; Pilkinton, Kimberly A.; Diao, Zhiying

    2016-01-01

    Patients with the Marfan syndrome are considered to be high risk during pregnancy and warrant a complete multidisciplinary evaluation. One goal is to minimize hemodynamic fluctuations during labor since hypertensive episodes may result in aortic dissection or rupture. Although they may prevent these complications, neuraxial techniques may be complicated by dural ectasia. The case of a parturient with the Marfan syndrome and mild dural ectasia is presented. During attempted labor epidural placement, unintentional dural puncture occurred. A spinal catheter was used for adequate labor analgesia, and a resultant postdural puncture headache was alleviated by an epidural blood patch under fluoroscopic guidance. PMID:27695168

  18. Monozygotic twins with Marfan's syndrome and ascending aortic aneurysm.

    PubMed

    Redruello, Héctor Jorge; Cianciulli, Tomas Francisco; Rostello, Eduardo Fernandez; Recalde, Barbara; Lax, Jorge Alberto; Picone, Victorio Próspero; Belforte, Sandro Mario; Prezioso, Horacio Alberto

    2007-08-01

    Marfan's syndrome is a hereditary connective tissue disease, in which cardiovascular abnormalities (especially aortic root dilatation) are the most important cause of morbidity and mortality. In this report, we describe two 24-year-old twins, with a history of surgery for lens subluxation and severe cardiovascular manifestations secondary to Marfan's syndrome. One of the twins suffered a type A aortic dissection, which required replacement of the ascending aorta, and the other twin had an aneurysmal dilatation of the ascending aorta (46mm) and was prescribed medical treatment with atenolol and periodic controls to detect the presence of a critical diameter (50mm) that would indicate the need for prophylactic surgery.

  19. Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome.

    PubMed Central

    Montgomery, R A; Geraghty, M T; Bull, E; Gelb, B D; Johnson, M; McIntosh, I; Francomano, C A; Dietz, H C

    1998-01-01

    Mutations in the FBN1 gene, which encodes fibrillin-1, cause Marfan syndrome (MFS) and have been associated with a wide range of milder, overlap phenotypes. The factors that modulate phenotypic severity, both between and within families, remain to be determined. This study examines the relationship between the FBN1 genotype and phenotype in families with extremely mild phenotypes and in those that show striking clinical variation among apparently affected individuals. In one family, clinically similar but etiologically distinct disorders are segregating independently. In another, somatic mosaicism for a mutant FBN1 allele is associated with subdiagnostic manifestations, whereas germ-line transmission of the identical mutation causes severe and rapidly progressive disease. A third family cosegregates mild mitral valve prolapse syndrome with a mutation in FBN1 that can be functionally distinguished from those associated with the classic MFS phenotype. These data have immediate relevance for the diagnostic and prognostic counseling of patients and their family members. PMID:9837823

  20. An unusual case of E coli meningitis in a patient with Marfan's syndrome.

    PubMed

    Kangath, Raghesh Varot; Midturi, John

    2013-03-05

    Spontaneous non-traumatic Escherichia coli meningitis is very rare in adults. We report a case of a 48-year-old woman with Marfan's syndrome with E coli meningitis. Apparently, the relation between an increased risk of meningitis and Marfan's syndrome is not well known. This patient was discharged on intravenous antibiotic therapy after a diagnosis of E coli meningitis without looking for the cause by imaging studies previously. Her blood cultures were negative ruling out haematogenous spread. Our work-up revealed extensive dural ectasia with intrasacral meningoceles extending into the pelvis possibly acting as a portal of entry for the bacteria into the brain from the gastrointestinal tract.

  1. Ruptured cerebral fusiform aneurysm with mucopolysaccharide deposits in the tunica media in a patient with Marfan syndrome.

    PubMed

    Kubo, Yoshitaka; Ogasawara, Kuniaki; Kurose, Akira; Kakino, Shunsuke; Tomitsuka, Nobuhiko; Ogawa, Akira

    2009-03-01

    Although aortic or cardiac complications are common in patients with Marfan syndrome, the presence of an intracranial aneurysm is comparatively rare. In this study, the authors report on their experience with resection of a ruptured fusiform aneurysm of the posterior cerebral artery in a 30-year-old woman with Marfan syndrome. Microscopic examination of the resected tissue showed many Alcian blue-staining deposits, consistent with the presence of mucopolysaccharide in the tunica media and focal fragmentation of the internal elastic lamina.

  2. Assessment of bone mineral status in children with Marfan syndrome

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder with skeletal involvement. It is caused by mutations in fibrillin1 (FBN1) gene resulting in activation of TGF-ßeta, which developmentally regulates bone mass and matrix properties. There is no consensus regarding bone minerali...

  3. [Acute carpal tunnel syndrome in a patient with Marfan syndrome].

    PubMed

    Franke, J; Wenzel, W; Rehfuss, D; Keiner, H P; Manncke, K

    2008-05-01

    Acute carpal tunnel syndrome (ACTS) is rare and is mostly the result of fractures of the distal radius or the carpal bones. This paper gives the first report of an ACTS following contusion of the wrist as the result of an extensive haematoma of the flexor tendon sheath, which did not appear until 50 hours after the injury was sustained but then developed rapidly. The patient suffers from Marfan syndrome. This disease is associated with pathologic changes to the major vessels, and especially the aorta, and of the smaller peripheral vessels. It is assumed that the haematoma arose from an aneurysm of such a small vessel. The treatment of choice in ACTS is emergency incision of the carpal tunnel.

  4. The Marfan Syndrome. Fact Sheet [and] Physical Education and Activity Guidelines.

    ERIC Educational Resources Information Center

    National Marfan Foundation, Port Washington, NY.

    This document consists of two brochures, the first explaining the Marfan Syndrome and a second providing guidelines for physical education and activity for people who have this syndrome are provided. The brochure on factual information about Marfan syndrome outlines the associated medical problems involving the cardiovascular system, the skeleton,…

  5. A linkage map of 10 loci flanking the Marfan syndrome locus on 15q: results of an International Consortium study.

    PubMed Central

    Sarfarazi, M; Tsipouras, P; Del Mastro, R; Kilpatrick, M; Farndon, P; Boxer, M; Bridges, A; Boileau, C; Junien, C; Hayward, C

    1992-01-01

    Members of an International Consortium for Linkage Analysis of the Marfan Syndrome (MFS1) have pooled data for joint analysis in an attempt to determine the precise location of the MFS1 gene and the order of 10 DNA markers on 15q. Five laboratories performed a total of 2111 genotypes in 22 families consisting of 225 affected and 248 normal subjects. For each marker a mean of 98 meioses was informative. D15S48 and D15S1 were identified as the closest linked markers with 99% upper confidence intervals of 12% and 13% respectively. We have used the CRI-MAP program to construct the most likely order as: D15S24-D15S25-D15S1-MFS1-D15S48-D15S49+ ++-(D15S45/S51)-(D15S29/S38). Placement of D15S2 in relation to -D15S1-D15S48- cannot be determined with certainty. The genetic map of these markers extends 53.6 cM in males and 65.0 cM in females with a sex averaged map of 60.7 cM. The sex difference was statistically significant (p = 0.005). Linkage heterogeneity between 22 MFS1 families was documented (p = 0.009) necessitating the exclusion of one family from the analysis. However, comparison of the remaining 21 families for two point and multipoint lod scores showed no evidence for linkage heterogeneity of the MFS1 locus. PMID:1613769

  6. Natural history of cardiovascular manifestations in Marfan syndrome

    PubMed Central

    van Karnebeek, C D M; Naeff, M; Mulder, B; Hennekam, R; Offringa, M

    2001-01-01

    AIMS—To investigate the natural history of mitral valve and aortic abnormalities in patients with Marfan syndrome during childhood and adolescence.
METHODS—Fifty two patients with Marfan syndrome were followed for a mean of 7.9 years. Occurrence of adverse cardiovascular outcomes was measured clinically and by ultrasound examination.
RESULTS—Mitral valve prolapse (MVP) was diagnosed in 46 patients at a mean age of 9.7 years, more than 80% of whom presented as "silent MVP". Mitral regurgitation (MR) occurred in 25 patients, aortic dilatation in 43, and aortic regurgitation (AR) in 13. Both MVP and aortic dilatation developed at a constant rate during the age period 5-20 years. In 23 patients MVP was diagnosed before aortic dilatation, in 18 the reverse occurred, and in 11 patients the two abnormalities were diagnosed simultaneously. During follow up, 21 patients showed progression of mitral valve dysfunction; progression of aortic abnormalities occurred in 13. Aortic surgery was performed in 10; two died of subsequent complications. Mitral valve surgery was performed in six. In sporadic female Marfan patients the age at initial diagnosis of MVP, MR, aortic dilatation, and AR was lowest, the grade of MR and AR most severe, the time lapse between the occurrence of MVP and subsequent MR as well as between dilatation and subsequent AR shortest, and the risk for cardiovascular associated morbidity and mortality highest.
CONCLUSIONS—During childhood and adolescence in Marfan syndrome, mitral valve dysfunction as well as aortic abnormalities develop and progress gradually, often without symptoms, but may cause considerable morbidity and mortality by the end of the second decade, especially in female sporadic patients.

 PMID:11159287

  7. Fibrillin abnormalities and prognosis in Marfan syndrome and related disorders

    SciTech Connect

    Aoyama, T.; Furthmayr, H.; Francke, U.; Gasner, C.

    1995-08-28

    Marfan syndrome (MFS), a multisystem autosomal-dominant disorder, is characterized by mutations of the fibrillin-1 (FBN1) gene and by abnormal patterns of synthesis, secretion, and matrix deposition of the fibrillin protein. To determine the sensitivity and specificity of fibrillin protein abnormalities in the diagnosis of MFS, we studied dermal fibroblasts from 57 patients with classical MFS, 15 with equivocal MFS, 8 with single-organ manifestations, and 16 with other connective tissue disorders including homocystinuria and Ehlers-Danlos syndrome. Abnormal fibrillin metabolism was identified in 70 samples that were classified into four different groups based on quantitation of fibrillin synthesis and matrix deposition. Significant correlations were found for phenotypic features including arachnodactyly, striae distensae, cardiovascular manifestations, and fibrillin groups II and IV, which included 70% of the MFS patients. In addition, these two groups were associated with shortened {open_quotes}event-free{close_quotes} survival and more severe cardiovascular complications than groups I and III. The latter included most of the equivocal MFS/single manifestation patients with fibrillin abnormalities. Our results indicate that fibrillin defects at the protein level per se are not specific for MFS, but that the drastically reduced fibrillin deposition, caused by a dominant-negative effect of abnormal fibrillin molecules in individuals defined as groups II and IV, is of prognostic and possibly diagnostic significance. 25 refs., 3 figs., 6 tabs.

  8. Sports and Marfan Syndrome: Awareness and Early Diagnosis Can Prevent Sudden Death.

    ERIC Educational Resources Information Center

    Salim, Mubadda A.; Alpert, Bruce S.

    2001-01-01

    Physicians who work with athletes play an important role in preventing sudden death related to physical activity in people who have Marfan syndrome. Flagging those who have the physical stigmata and listening for certain cardiac auscultation sounds are early diagnostic keys that can help prevent deaths. People with Marfan syndrome should be…

  9. Fatigue in adults with Marfan syndrome, occurrence and associations to pain and other factors.

    PubMed

    Bathen, Trine; Velvin, Gry; Rand-Hendriksen, Svend; Robinson, Hilde Stendal

    2014-08-01

    This study aims to investigate how fatigue affects adults with verified Marfan syndrome (MFS) in their daily lives, by examining fatigue levels and prevalence of severe fatigue compared to the general Norwegian population and individuals with other comparable chronic conditions. We investigated associations between socio-demographic characteristics, Marfan-related health problems, pain and fatigue. A cross-sectional study was conducted, using a postal questionnaire including the Fatigue Severity Scale (FSS) and questions on socio-demographic characteristics, Marfan-related health problems and pain. One hundred seventeen persons with MFS were invited to participate, 73 answered (62%). Participants reported significantly higher FSS scores and prevalence of severe fatigue compared to the general Norwegian population and patients with rheumatoid arthritis (RA), but lower than for other chronic conditions. Participants with chronic pain reported higher fatigue scores than those without chronic pain. Participants on disability benefits reported higher fatigue scores than participants who were working or enrolled in higher education. Marfan-related health problems like aortic dissection and use of blood pressure medication were not significantly associated with fatigue. In multivariable regression analyses chronic pain and employment status were significantly associated with fatigue. The final multivariable model explained 24% of the variance in fatigue scores. Our results show that fatigue is common in MFS patients and that it interferes with their daily lives. Chronic pain and employment status show significant associations to fatigue. This implies that fatigue is important to address when meeting MFS patients in clinical practice. There is need for more research on fatigue in Marfan syndrome.

  10. Novel pharmacological strategies to prevent aortic complications in Marfan syndrome.

    PubMed

    Matt, Peter; Eckstein, Friedrich

    2011-12-01

    The Marfan syndrome (MFS) is a systemic connective tissue disorder caused by mutations in the FBN1 gene. Recent molecular studies, most performed in mouse models, revealed that the MFS is more a developmental abnormality with broad and complex effects on the morphogenesis and function of multiple organ systems. FBN1 haploinsufficiency and dysregulated transforming growth factor-beta (TGF-β) signaling seem to be critical for clinical manifestations in MFS including aortic root dilatation. Aortic root aneurysm and aortic dissection represent the main causes of morbidity and mortality in MFS. Most importantly, TGF-β antagonism through angiotensin II type 1 receptor blockers (ARBs), for example losartan, has been shown to prevent and possibly reverse aortic root dilatation in a mouse model of MFS. A first human study on a small pediatric cohort confirmed those promising results in reducing the aortic root growth over a follow-up period of 12 to 47 months. So, a large multicenter trial has been set up and results should be available soon. Other therapeutic strategies which might be combined with losartan include traditional β-blockade, doxycyclin and statins. Such management could offer the first potential for primary prevention of clinical manifestations in MFS. PMID:22783312

  11. Edgar Allan Poe: a case description of the Marfan syndrome in an obscure short story.

    PubMed

    Battle, Robert W

    2011-07-01

    In the obscure short story “A Tale of the Ragged Mountains,” Edgar Allen Poe meticulously described a character with features remarkably consistent with the Marfan syndrome. This description appeared in fiction >50 years before the celebrated index description in the published medical research by Professor Antoine Marfan in Paris in 1896.

  12. Neonatal Marfan syndrome caused by an exon 25 mutation of the fibrillin-1 gene.

    PubMed

    Elçioglu, N H; Akalin, F; Elçioglu, M; Comeglio, P; Child, A H

    2004-01-01

    Neonatal Marfan syndrome caused by an exon 25 mutation of the Fibrillin-1 gene: We describe a male infant with severe arachnodactyly, hypermobility of the fingers, flexion contractures of elbows, wrists, hips, and knees, microretrognathia, crumpled ears, rockerbottom feet, loose redundant skin, and lens dislocations. Cardiac valve insufficiency and aortic dilatation resulted in cardiac failure, decompensated with digitalisation and death occurred at the age of 4 months. This case represents the severe end of the clinical spectrum of Marfan syndrome, namely neonatal Marfan syndrome. Molecular diagnostic analyses confirmed a de novo exon 25 mutation in the FBN1 gene. PMID:15287423

  13. Marfan syndrome: abnormal alpha 2 chain in type I collagen.

    PubMed Central

    Byers, P H; Siegel, R C; Peterson, K E; Rowe, D W; Holbrook, K A; Smith, L T; Chang, Y H; Fu, J C

    1981-01-01

    Cells in culture from a woman with a variety of the Marfan syndrome produce two species of the alpha 2 chains of type I collagen. One alpha 2 chain appears normal; the abnormal chain has a higher apparent molecular weight than normal and migrates more slowly during electrophoresis in sodium dodecyl sulfate/polyacrylamide gels. A similar change in electrophoretic behavior is seen in the prepro alpha 2 chain and the pN alpha 2 chain (which contains the amino-terminal extension). Asymmetric cleavage of the pepsin-treated procollagens with a fibroblast collagenase locates the abnormal segment amino terminal to the cleavage site, and analysis of cyanogen bromide peptides of collagenase cleavage peptides and of whole collagens indicates that the abnormal segment is in either the alpha 2CB3 peptide or the short segment of alpha 2CB5 amino terminal to the collagenase site of the altered alpha 2 chain. The higher apparent molecular weight is consistent with the insertion of a small peptide fragment of approximately 20 amino acids. This alteration in chain size has marked effects on crosslinking because collagen from the patient's skin was 5-10 times more extractable in nondenaturing solvents than that from control skins. Although the abnormal chain was not found in several other individuals with the Marfan syndrome, these findings suggest that the phenotype may be the expression of a variety of primary structure alterations in the chains of type I collagen that interfere with normal crosslink formation. Images PMID:6950413

  14. Efficacy of desmopressin in preventing hemorrhagic complications in a patient with Marfan syndrome undergoing cardiac surgery.

    PubMed

    Franchini, Massimo; Lippi, Giuseppe; Veneri, Dino

    2006-06-01

    In this case report, we describe the successful use of desmopressin as prophylaxis against hemorrhage in a patient with a bleeding tendency associated with Marfan syndrome and a platelet function defect undergoing cardiovascular surgery.

  15. The molecular genetics of Marfan syndrome and related disorders

    PubMed Central

    Robinson, P N; Arteaga‐Solis, E; Baldock, C; Collod‐Béroud, G; Booms, P; De Paepe, A; Dietz, H C; Guo, G; Handford, P A; Judge, D P; Kielty, C M; Loeys, B; Milewicz, D M; Ney, A; Ramirez, F; Reinhardt, D P; Tiedemann, K; Whiteman, P; Godfrey, M

    2006-01-01

    Marfan syndrome (MFS), a relatively common autosomal dominant hereditary disorder of connective tissue with prominent manifestations in the skeletal, ocular, and cardiovascular systems, is caused by mutations in the gene for fibrillin‐1 (FBN1). The leading cause of premature death in untreated individuals with MFS is acute aortic dissection, which often follows a period of progressive dilatation of the ascending aorta. Recent research on the molecular physiology of fibrillin and the pathophysiology of MFS and related disorders has changed our understanding of this disorder by demonstrating changes in growth factor signalling and in matrix‐cell interactions. The purpose of this review is to provide a comprehensive overview of recent advances in the molecular biology of fibrillin and fibrillin‐rich microfibrils. Mutations in FBN1 and other genes found in MFS and related disorders will be discussed, and novel concepts concerning the complex and multiple mechanisms of the pathogenesis of MFS will be explained. PMID:16571647

  16. Marfan syndrome: defective synthesis, secretion, and extracellular matrix formation of fibrillin by cultured dermal fibroblasts.

    PubMed Central

    Milewicz, D M; Pyeritz, R E; Crawford, E S; Byers, P H

    1992-01-01

    We studied the synthesis, secretion, and aggregation into the extracellular matrix of fibrillin by dermal fibroblasts from 26 probands with the Marfan syndrome. Cells from seven probands synthesized approximately half the normal amount of fibrillin when compared with intrafamilial or unrelated controls. Cells from an additional seven probands synthesized a normal amount of fibrillin but secreted the protein less efficiently than control cells. Cells from a further eight probands synthesized and secreted normal amounts of fibrillin but the protein was poorly incorporated into extracellular matrix. Cells from the remaining four probands were indistinguishable from control cells in their synthesis and processing of fibrillin. Cells from 18 family members of 10 of the probands were also studied. Cells from affected individuals in the same family had the same biochemical defect and those from unaffected family members were indistinguishable from controls. These results indicate that mutations in the gene that encodes fibrillin are responsible for the Marfan syndrome in the majority of individuals (confirming recent immunohistochemical and genetic linkage studies) and that a variety of mutations can produce the phenotype associated with the syndrome. Images PMID:1729284

  17. Neonatal Marfan Syndrome: Report of a Case with an Inherited Splicing Mutation outside the Neonatal Domain

    PubMed Central

    Le Gloan, Laurianne; Hauet, Quentin; David, Albert; Hanna, Nadine; Arfeuille, Chloé; Arnaud, Pauline; Boileau, Catherine; Romefort, Bénédicte; Benbrik, Nadir; Gournay, Véronique; Joram, Nicolas; Baron, Olivier; Isidor, Bertrand

    2016-01-01

    We report a child and her mother affected by Marfan syndrome. The child presented with a phenotype of neonatal Marfan syndrome, revealed by acute and refractory heart failure, finally leading to death within the first 4 months of life. Her mother had a common clinical presentation. Genetic analysis revealed an inherited FBN1 mutation. This intronic mutation (c.6163+3_6163+6del), undescribed to date, leads to exon 49 skipping, corresponding to in-frame deletion of 42 amino acids (p.Ile2014_Asp2055del). FBN1 next-generation sequencing did not show any argument for mosaicism. Association in the same family of severe neonatal and classical Marfan syndrome illustrates the intrafamilial phenotype variability. PMID:27022329

  18. Abnormal Morphology of Fibrillin Microfibrils in Fibroblast Cultures from Patients with Neonatal Marfan Syndrome

    PubMed Central

    Godfrey, Maurice; Raghunath, Michael; Cisler, Jason; Bevins, Charles L.; DePaepe, Anne; Di Rocco, Maja; Gregoritch, Jane; Imaizumi, Kiyoshi; Kaplan, Paige; Kuroki, Yoshikazu; Silberbach, Michael; Superti-Furga, Andrea; Van Thienen, Marie-Noëlle; Vetter, Ulrich; Steinmann, Beat

    1995-01-01

    The Marfan syndrome (MFS) is a connective tissue disorder manifested by variable and pleiotropic features in the skeletal, ocular, and cardiovascular systems. The average life span in MFS is about 35 years. A group with much more severe cardiovascular disease and a mean life span of approximately I year also exists. We refer to this latter group as “neonatal Marfan syndrome” (nMFS). Fibrillin defects are now known to be the cause of MFS and nMFS. Immunofluorescence studies were the first to demonstrate this association. Here we describe immunofluorescence studies in a series of 10 neonates and summarize their salient clinical features. In vitro accumulation of fibrillin reactive fibers was assayed using monoclonal antibodies to fibrillin in hyperconfluent fibroblast cultures. As was previously observed in MFS, fibroblast cultures from nMFS patients showed an apparent decrease in accumulation of immunostainable fibrillin. Significantly, however, the morphology of the immunostained fibrils in the nMFS cultures were abnormal and differed not only from control cultures, but also from those seen in cultures of MFS fibroblasts. The nMFS fibrils appeared short, fragmented, and frayed, characteristics that are not seen in MFS. Both the clinical and fibrillin morphology data provide evidence to suggest a useful subclassification of nMFS in the spectrum of MFS. ImagesFigure 1Figure 2 PMID:7778680

  19. The Marfan Syndrome: Physical Activity Guidelines for Physical Educators, Coaches and Physicians.

    ERIC Educational Resources Information Center

    Romeo, Thomas J.

    Intended for physical educators, this manual provides guidelines for providing safe and effective physical activity programs for children with Marfan syndrome, a congenital condition involving the connective tissues and the probable cause of sudden death by heart failure of some young competitive athletes in recent cases. The manual includes…

  20. The Educational and Psychological Interventions for Children and Adolescents with Marfan Syndrome.

    ERIC Educational Resources Information Center

    Stebbins, Molly S.; McIntosh, David E.

    Marfan's syndrome is an autosomal dominant chromosomal disorder of connective tissue which may cause major abnormalities in the musculoskeletal, ocular (pertaining to the eye), and cardiovascular systems of the body. A description of this disorder is presented in this paper. It affects approximately .03 to .05% of the population; approximately…

  1. Marfan syndrome patient experiences as ascertained through postings on social media sites.

    PubMed

    Kelleher, Erin; Giampietro, Philip F; Moreno, Megan A

    2015-11-01

    Marfan syndrome (MS) is a connective tissue disorder that affects thousands of adolescents [Population Reference Bureau, 2013]. Some adolescent patients with MS may use social media to express their experiences and emotions, but little is known about what patients choose to share online. To investigate social media content related to Marfan syndrome we used search terms "Marfan syndrome" and "Marfans" on six different social media sites. The top five recent and popular posts for each site were collected and coded weekly for five weeks. Posts were excluded if they were reshared content or not in English. A codebook was developed using an iterative process to categorize posts and comments. Out of 300 posts collected 147 posts (49.0%) were included for evaluation. Categories of displayed content included personal pictures, memes and pictures featuring symptoms of MS (41.5%) and personal MS experiences (27.1% of posts). One quarter of the posts specifically mentioned a positive experience or how thankful the profile owner was for their life. A unique category of posts (13.7%) referenced Austin Carlile, a celebrity singer with MS, as a role model. Physicians and healthcare providers may consider using social media to understand common MS concerns and to place future health education materials.

  2. Marfan syndrome patient experiences as ascertained through postings on social media sites.

    PubMed

    Kelleher, Erin; Giampietro, Philip F; Moreno, Megan A

    2015-11-01

    Marfan syndrome (MS) is a connective tissue disorder that affects thousands of adolescents [Population Reference Bureau, 2013]. Some adolescent patients with MS may use social media to express their experiences and emotions, but little is known about what patients choose to share online. To investigate social media content related to Marfan syndrome we used search terms "Marfan syndrome" and "Marfans" on six different social media sites. The top five recent and popular posts for each site were collected and coded weekly for five weeks. Posts were excluded if they were reshared content or not in English. A codebook was developed using an iterative process to categorize posts and comments. Out of 300 posts collected 147 posts (49.0%) were included for evaluation. Categories of displayed content included personal pictures, memes and pictures featuring symptoms of MS (41.5%) and personal MS experiences (27.1% of posts). One quarter of the posts specifically mentioned a positive experience or how thankful the profile owner was for their life. A unique category of posts (13.7%) referenced Austin Carlile, a celebrity singer with MS, as a role model. Physicians and healthcare providers may consider using social media to understand common MS concerns and to place future health education materials. PMID:26272787

  3. FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders.

    PubMed

    Sakai, Lynn Y; Keene, Douglas R; Renard, Marjolijn; De Backer, Julie

    2016-10-10

    FBN1 encodes the gene for fibrillin-1, a structural macromolecule that polymerizes into microfibrils. Fibrillin microfibrils are morphologically distinctive fibrils, present in all connective tissues and assembled into tissue-specific architectural frameworks. FBN1 is the causative gene for Marfan syndrome, an inherited disorder of connective tissue whose major features include tall stature and arachnodactyly, ectopia lentis, and thoracic aortic aneurysm and dissection. More than one thousand individual mutations in FBN1 are associated with Marfan syndrome, making genotype-phenotype correlations difficult. Moreover, mutations in specific regions of FBN1 can result in the opposite features of short stature and brachydactyly characteristic of Weill-Marchesani syndrome and other acromelic dysplasias. How can mutations in one molecule result in disparate clinical syndromes? Current concepts of the fibrillinopathies require an appreciation of tissue-specific fibrillin microfibril microenvironments and the collaborative relationship between the structures of fibrillin microfibril networks and biological functions such as regulation of growth factor signaling. PMID:27437668

  4. Early Impairment of Lung Mechanics in a Murine Model of Marfan Syndrome

    PubMed Central

    Uriarte, Juan J.; Meirelles, Thayna; Gorbenko del Blanco, Darya; Nonaka, Paula N.; Campillo, Noelia; Sarri, Elisabet; Navajas, Daniel; Egea, Gustavo; Farré, Ramon

    2016-01-01

    Early morbidity and mortality in patients with Marfan syndrome (MFS) -a connective tissue disease caused by mutations in fibrillin-1 gene- are mainly caused by aorta aneurysm and rupture. However, the increase in the life expectancy of MFS patients recently achieved by reparatory surgery promotes clinical manifestations in other organs. Although some studies have reported respiratory alterations in MFS, our knowledge of how this connective tissue disease modifies lung mechanics is scarce. Hence, we assessed whether the stiffness of the whole lung and of its extracellular matrix (ECM) is affected in a well-characterized MFS mouse model (FBN1C1039G/+). The stiffness of the whole lung and of its ECM were measured by conventional mechanical ventilation and atomic force microscopy, respectively. We studied 5-week and 9-month old mice, whose ages are representative of early and late stages of the disease. At both ages, the lungs of MFS mice were significantly more compliant than in wild type (WT) mice. By contrast, no significant differences were found in local lung ECM stiffness. Moreover, histopathological lung evaluation showed a clear emphysematous-like pattern in MFS mice since alveolar space enlargement was significantly increased compared with WT mice. These data suggest that the mechanism explaining the increased lung compliance in MFS is not a direct consequence of reduced ECM stiffness, but an emphysema-like alteration in the 3D structural organization of the lung. Since lung alterations in MFS are almost fully manifested at an early age, it is suggested that respiratory monitoring could provide early biomarkers for diagnosis and/or follow-up of patients with the Marfan syndrome. PMID:27003297

  5. Early Impairment of Lung Mechanics in a Murine Model of Marfan Syndrome.

    PubMed

    Uriarte, Juan J; Meirelles, Thayna; Gorbenko Del Blanco, Darya; Nonaka, Paula N; Campillo, Noelia; Sarri, Elisabet; Navajas, Daniel; Egea, Gustavo; Farré, Ramon

    2016-01-01

    Early morbidity and mortality in patients with Marfan syndrome (MFS) -a connective tissue disease caused by mutations in fibrillin-1 gene- are mainly caused by aorta aneurysm and rupture. However, the increase in the life expectancy of MFS patients recently achieved by reparatory surgery promotes clinical manifestations in other organs. Although some studies have reported respiratory alterations in MFS, our knowledge of how this connective tissue disease modifies lung mechanics is scarce. Hence, we assessed whether the stiffness of the whole lung and of its extracellular matrix (ECM) is affected in a well-characterized MFS mouse model (FBN1C1039G/+). The stiffness of the whole lung and of its ECM were measured by conventional mechanical ventilation and atomic force microscopy, respectively. We studied 5-week and 9-month old mice, whose ages are representative of early and late stages of the disease. At both ages, the lungs of MFS mice were significantly more compliant than in wild type (WT) mice. By contrast, no significant differences were found in local lung ECM stiffness. Moreover, histopathological lung evaluation showed a clear emphysematous-like pattern in MFS mice since alveolar space enlargement was significantly increased compared with WT mice. These data suggest that the mechanism explaining the increased lung compliance in MFS is not a direct consequence of reduced ECM stiffness, but an emphysema-like alteration in the 3D structural organization of the lung. Since lung alterations in MFS are almost fully manifested at an early age, it is suggested that respiratory monitoring could provide early biomarkers for diagnosis and/or follow-up of patients with the Marfan syndrome. PMID:27003297

  6. Variable phenotype of Marfan syndrome in two large Australian pedigrees, one of Australian aboriginal origin

    SciTech Connect

    Wong, K.K.; Summers, K.M.; West, M.J.

    1994-09-01

    Marfan syndrome may affect the cardiovascular, ocular and skeletal systems. The gene for this autosomal dominant disease maps to chromosome 15 and codes for the extracellular matrix protein fibrillin. Phenotypic expression is very variable both within and between families, possibly due to the influence of other, unlinked, genetic factors interacting with the fibrillin gene. We report two Australian families which demonstrate the extent of inter- and intra-family phenotypic variability. Eye, cardiac and skeletal assessments were made independently. In the first family, 8 of 12 siblings and 11 of 19 of their children had ectopia lentis with or without other ocular findings. There were few cardiac signs. One child had mitral valve prolapse. He and three other children had mild dilatation of the aorta. Skeletal abnormalities were also found (3 adults and 7 children). Chest wall asymmetry was the most common skeletal finding. This family has less cardiac and skeletal involvement than is usual in Marfan syndrome, although the disease maps to chromosome 15 in the region of the fibrillin gene (LOD=4.8 at {theta}=0 with respect to CYP19). The second family is partly of Australian aboriginal origin. The disease has been traced through 5 generations. To date we have examined 37 of 84 living members. Twenty-three in 3 generations are affected. Five adults and 4 children have moderate to severe aortic dilatation and there has been at least one death due to aortic dissection. However, two adolescents with subluxed lenses and marked skeletal abnormalities have normal aortic diameters, two children have aortic dilatation without other signs and two children have only subluxed lenses. This family shows the range of phenotypic variation which can arise from mutation in the fibrillin gene, which may be influenced by the admixture of Australian aboriginal genes. These two families provide an invaluable resource for studying genetic interactions in this disease.

  7. Marfan syndrome with a complex chromosomal rearrangement including deletion of the FBN1 gene

    PubMed Central

    2012-01-01

    Background The majority of Marfan syndrome (MFS) cases is caused by mutations in the fibrillin-1 gene (FBN1), mapped to chromosome 15q21.1. Only few reports on deletions including the whole FBN1 gene, detected by molecular cytogenetic techniques, were found in literature. Results We report here on a female patient with clinical symptoms of the MFS spectrum plus craniostenosis, hypothyroidism and intellectual deficiency who presents a 1.9 Mb deletion, including the FBN1 gene and a complex rearrangement with eight breakpoints involving chromosomes 6, 12 and 15. Discussion This is the first report of MFS with a complex chromosome rearrangement involving a deletion of FBN1 and contiguous genes. In addition to the typical clinical findings of the Marfan syndrome due to FBN1 gene haploinsufficiency, the patient presents features which may be due to the other gene deletions and possibly to the complex chromosome rearrangement. PMID:22260333

  8. Combined cataract surgery on a Marfan-syndrome patient (case report).

    PubMed

    Biró, Zsolt; Szabó, Ilona; Pámer, Zsuzsanna

    2014-01-01

    Combined cataract surgery of an ectopic lens was performed on a 10 years old girl with Marfan-syndrome. A Cionni capsular tension ring was implanted into the capsular bag, and the bag was pulled to its place and fixed with a scleral suture. Because of the young age of the patient a primary posterior capsulorhexis was performed, through which anterior vitrectomy was carried out and the artificial lens was implanted into the capsular bag. In the literature several surgical solutions are advised for the treatment of the ectopic lens in patients with Marfan-syndrome. We have performed a successful surgery combined with posterior capsulorhexis in our case. Because of its rarity and special surgical solution, we think this case report is interesting and can be helpful in such cases to be published.

  9. Neonatal Marfan syndrome with congenital arachnodactyly, flexion contractures, and severe cardiac valve insufficiency.

    PubMed Central

    Buntinx, I M; Willems, P J; Spitaels, S E; Van Reempst, P J; De Paepe, A M; Dumon, J E

    1991-01-01

    We describe a male neonate with severe arachnodactyly, hypermobility of the fingers, flexion contractures of elbows, wrists, hips, and knees, micrognathia, crumpled ears, rockerbottom feet, loose redundant skin, and ocular abnormalities. Severe cardiac valve insufficiency and aortic dilatation resulted in cardiac failure and death 20 hours after birth. This case represents the severe end of the clinical spectrum of Marfan syndrome. As similar patients have been reported, they may represent a separate mutation. Images PMID:1856834

  10. Distinct effects of losartan and atenolol on vascular stiffness in Marfan syndrome.

    PubMed

    Bhatt, Ami B; Buck, J Stewart; Zuflacht, Jonah P; Milian, Jessica; Kadivar, Samoneh; Gauvreau, Kimberlee; Singh, Michael N; Creager, Mark A

    2015-08-01

    We conducted a randomized, double-blind trial of losartan (100 mg QD) versus atenolol (50 mg QD) for 6 months in adults with Marfan syndrome. Carotid-femoral pulse wave velocity (PWV), central augmentation index (AIx), aortic diameter and left ventricular (LV) function were assessed with arterial tonometry and echocardiography. Thirty-four subjects (18 female; median age 35 years, IQR 27, 45) were randomized. Central systolic and diastolic blood pressure decreased comparably with atenolol and losartan (p = 0.64 and 0.31, respectively); heart rate decreased with atenolol (p = 0.02), but not with losartan. PWV decreased in patients treated with atenolol (-1.15 ± 1.68 m/s; p = 0.01), but not in those treated with losartan (-0.22 ± 0.59 m/s; p = 0.15; between-group difference p = 0.04). In contrast, AIx decreased in the losartan group (-9.6 ± 8.6%; p < 0.001) but not in the atenolol group (0.9 ± 6.2%, p = 0.57; between-group difference p < 0.001). There was no significant change in aortic diameters or LV ejection fraction in either treatment group. In adults with Marfan syndrome, 6 months of treatment with atenolol improves PWV, whereas losartan reduces the AIx. By improving vascular stiffness via distinct mechanisms of action, there is physiologic value to considering the use of both medications in individuals with Marfan syndrome.

  11. Medical Treatment of Aortic Aneurysms in Marfan Syndrome and other Heritable Conditions

    PubMed Central

    Jost, Christine H. Attenhofer; Greutmann, Matthias; Connolly, Heidi M.; Weber, Roland; Rohrbach, Marianne; Oxenius, Angela; Kretschmar, Oliver; Luscher, Thomas F.; Matyas, Gabor

    2014-01-01

    Thoracic aortic aneurysms can be triggered by genetic disorders such as Marfan syndrome (MFS) and related aortic diseases as well as by inflammatory disorders such as giant cell arteritis or atherosclerosis. In all these conditions, cardiovascular risk factors, such as systemic arterial hypertension, may contribute to faster rate of aneurysm progression. Optimal medical management to prevent progressive aortic dilatation and aortic dissection is unknown. β-blockers have been the mainstay of medical treatment for many years despite limited evidence of beneficial effects. Recently, losartan, an angiotensin II type I receptor antagonist (ARB), has shown promising results in a mouse model of MFS and subsequently in humans with MFS and hence is increasingly used. Several ongoing trials comparing losartan to β-blockers and/or placebo will better define the role of ARBs in the near future. In addition, other medications, such as statins and tetracyclines have demonstrated potential benefit in experimental aortic aneurysm studies. Given the advances in our understanding of molecular mechanisms triggering aortic dilatation and dissection, individualized management tailored to the underlying genetic defect may be on the horizon of individualized medicine. We anticipate that ongoing research will address the question whether such genotype/pathogenesis-driven treatments can replace current phenotype/syndrome-driven strategies and whether other forms of aortopathies should be treated similarly. In this work, we review currently used and promising medical treatment options for patients with heritable aortic aneurysmal disorders. PMID:24527681

  12. A Novel Fibrillin 1 Gene Mutation Leading to Marfan Syndrome with Minimal Cardiac Features

    PubMed Central

    Martínez-Quintana, E; Rodríguez-González, F; Garay-Sánchez, P; Tugores, A

    2014-01-01

    Marfan syndrome is an autosomal dominant disorder of the connective tissue, characterized by early development of thoracic aortic aneurysms and/or dissections, accompanied by ocular and/or skeletal involvement, and is caused by mutations in the fibrillin 1 (FBN1) gene. We report on a patient with ectopia lentis and a nonprogressive aortic root dilatation who presented with a novel mutation affecting a conserved cysteine residue present in a calcium-binding epidermal growth factor-like domain of FBN1 (ENSP00000325527, p.Cys538Phe; Chr15:48,805,751 G>T), as revealed by complete sequencing of the FBN1 gene exons and flanking sequences. Identification of the mutation led to genetic screening of apparently asymptomatic family members, allowing the detection of characteristic ocular phenotypes in the absence of typical cardiac Marfan features. This finding stresses the importance of genetic screening of asymptomatic relatives for FBN1 gene mutation carriers. PMID:25337071

  13. Marfan syndrome with coronary artery lesions in a North American Indian.

    PubMed Central

    Rabkin, S. W.; Corbett, B. N.; Benediktsson, H.

    1976-01-01

    Marfan syndrome has not been well documented in North American Indians. A 19-year old Ojibwa man had evidence of this syndrome -- specifically, tall stature, long, thin extremities (particularly, fingers and toes), increased urinary excretion of hydroxyproline, aortic aneurysm, aortic regurgitation and pathologic evidence of aortic rupture and alastic tissue fragmentation. Intimal hyperplasia was present in the extramural coronary arteries, while the intramural arteries, usually thought to be involved, were normal. Images FIG. 1 FIG. 2 FIG. 3 FIG. 4 FIG. 5 FIG. 6 PMID:974953

  14. Infusion of Hibiscus sabdariffa L. Modulates Oxidative Stress in Patients with Marfan Syndrome

    PubMed Central

    Soto, María Elena; Zuñiga-Muñoz, Alejandra; Guarner Lans, Verónica; Duran-Hernández, Erendira Janet; Pérez-Torres, Israel

    2016-01-01

    Marfan syndrome (MFS) is associated with progressive aortic dilatation, endothelial dysfunction, and oxidative stress that contribute to the early acute dissection of the vessel and can end up in rupture of the aorta and sudden death. Many studies have described that the organic acids from Hibiscus sabdariffa Linne (HSL) calyces increase cellular antioxidant capacity and decrease oxidative stress. Here we evaluate if the antioxidant properties of HSL infusion improve oxidative stress in MFS patients. Activities of extra cellular super oxide dismutase (ECSOD), glutathione peroxidase (GPx), glutathione-S-transferase (GST), glutathione reductase (GSSG-R), glutathione (GSH), lipid peroxidation (LPO) index, total antioxidant capacity (TAC), and ascorbic acid were determined in plasma from MFS patients. Values before and after 3 months of the treatment with 2% HSL infusion were compared in control and MFS subjects. After treatment, there was a significant decrease in ECSOD (p = 0.03), EGPx (p = 0.04), GST (p = 0.03), GSH (p = 0.01), and TAC and ascorbic acid (p = 0.02) but GSSG-R activity (p = 0.04) and LPO (p = 0.02) were increased in MFS patients in comparison to patients receiving the HSL treatment and C subjects. Therefore, the infusion of HSL calyces has antioxidant properties that allow an increase in antioxidant capacity of both the enzymatic and nonenzymatic systems, in the plasma of the MSF patients. PMID:27413258

  15. Identification of Loci Modulating the Cardiovascular and Skeletal Phenotypes of Marfan Syndrome in Mice

    PubMed Central

    Fernandes, Gustavo R.; Massironi, Silvia M. G.; Pereira, Lygia V.

    2016-01-01

    Marfan syndrome (MFS) is an autosomal dominant disease of the connective tissue, affecting mostly the skeletal, ocular and cardiovascular systems, caused by mutations in the FBN1 gene. The existence of modifier genes has been postulated based on the wide clinical variability of manifestations in patients, even among those with the same FBN1 mutation. Although isogenic mouse models of the disease were fundamental in dissecting the molecular mechanism of pathogenesis, they do not address the effect of genetic background on the disease phenotype. Here, we use a new mouse model, mgΔloxPneo, which presents different phenotype severity dependent on the genetic backgrounds, to identify genes involved in modulating MFS phenotype. F2 heterozygotes showed wide phenotypic variability, with no correlations between phenotypic severities of the different affected systems, indicating that each has its specific set of modifier genes. Individual analysis of the phenotypes, with SNP microarrays, identified two suggestive QTL each to the cardiovascular and skeletal, and one significant QTL to the skeletal phenotype. Epistatic interactions between the QTL account for 47.4% and 53.5% of variation in the skeletal and cardiovascular phenotypes, respectively. This is the first study that maps modifier loci for MFS, showing the complex genetic architecture underlying the disease. PMID:26927851

  16. Infusion of Hibiscus sabdariffa L. Modulates Oxidative Stress in Patients with Marfan Syndrome.

    PubMed

    Soto, María Elena; Zuñiga-Muñoz, Alejandra; Guarner Lans, Verónica; Duran-Hernández, Erendira Janet; Pérez-Torres, Israel

    2016-01-01

    Marfan syndrome (MFS) is associated with progressive aortic dilatation, endothelial dysfunction, and oxidative stress that contribute to the early acute dissection of the vessel and can end up in rupture of the aorta and sudden death. Many studies have described that the organic acids from Hibiscus sabdariffa Linne (HSL) calyces increase cellular antioxidant capacity and decrease oxidative stress. Here we evaluate if the antioxidant properties of HSL infusion improve oxidative stress in MFS patients. Activities of extra cellular super oxide dismutase (ECSOD), glutathione peroxidase (GPx), glutathione-S-transferase (GST), glutathione reductase (GSSG-R), glutathione (GSH), lipid peroxidation (LPO) index, total antioxidant capacity (TAC), and ascorbic acid were determined in plasma from MFS patients. Values before and after 3 months of the treatment with 2% HSL infusion were compared in control and MFS subjects. After treatment, there was a significant decrease in ECSOD (p = 0.03), EGPx (p = 0.04), GST (p = 0.03), GSH (p = 0.01), and TAC and ascorbic acid (p = 0.02) but GSSG-R activity (p = 0.04) and LPO (p = 0.02) were increased in MFS patients in comparison to patients receiving the HSL treatment and C subjects. Therefore, the infusion of HSL calyces has antioxidant properties that allow an increase in antioxidant capacity of both the enzymatic and nonenzymatic systems, in the plasma of the MSF patients. PMID:27413258

  17. A Woman With Marfan Syndrome in Pregnancy: Managing High Vascular Risk With Multidisciplinary Care.

    PubMed

    Naud, Kentia; Horne, Gabrielle; Van den Hof, Michiel

    2015-08-01

    Contexte : Bien que les femmes qui présentent des troubles affectant les tissus conjonctifs soient exposées à des risques de complications cardiovasculaires pendant la grossesse, nous ne disposons d’aucune ligne directrice en ce qui concerne les femmes enceintes dont le diamètre de l’anneau aortique est supérieur à 45 mm ou qui connaissent un élargissement rapide de l’aorte. Nous décrivons les facteurs significatifs sur le plan pratique dans le cadre de la prise en charge de la grossesse et de l’accouchement chez une femme atteinte du syndrome de Marfan.  Cas : Une femme enceinte atteinte du syndrome de Marfan nous a consultés pour obtenir des soins tertiaires à 26 semaines de gestation. La dilatation rapide de l’aorte a mené à la décision de procéder à un accouchement préterme (lequel a donné lieu à une bonne issue néonatale). Le recours à une approche multidisciplinaire a contribué à l’optimisation du monitorage et de la chronologie de l’accouchement (et à la réparation subséquente de l’aorte), en plus de permettre la planification de la prise en charge d’une potentielle catastrophe vasculaire.  Conclusion : Dans le cas des femmes enceintes qui sont atteintes du syndrome de Marfan, l’obtention d’issues maternelles et néonatales optimales dépend de la mise en œuvre d’un effort d’équipe grandement attentif et coordonné (y compris celle d’une planification méticuleuse de la prise en charge d’une potentielle catastrophe vasculaire).

  18. Management of severe asymmetric pectus excavatum complicating aortic repair in a patient with Marfan's syndrome.

    PubMed

    Yeung, Jonathan C; Marcuzzi, Danny; Peterson, Mark D; Ko, Michael A

    2016-05-01

    We describe the case of a 28-year old man with Marfan's syndrome and severe pectus excavatum who required an aortic root replacement for an ascending aortic aneurysm. There was a near-vertical angulation of the sternum that presented challenges with opening and exposure of the heart during aortic surgery. Furthermore, removal of the sternal retractor after aortic repair resulted in sudden loss of cardiac output. A Ravitch procedure was then performed to successfully close the chest without further cardiovascular compromise. We propose that patients with a severe pectus excavatum and mediastinal displacement seen on preoperative CT scanning should be considered for simultaneous, elective repair.

  19. Hybrid endovascular treatment of an anomalous right subclavian artery dissection in a patient with Marfan syndrome.

    PubMed

    Stanley, Gregory A; Arko, Frank R; Foteh, Mazin I; Jessen, Michael E; DiMaio, J Michael

    2012-08-01

    We report the case of a 26-year-old female patient with Marfan syndrome and an aberrant right subclavian artery (ARSA) with associated Kommerell diverticulum. The patient presented with spontaneous acute dissection of the ARSA that showed fusiform dilation to 4 cm in diameter. Definitive treatment was performed using a two-stage hybrid endovascular technique, including extrathoracic bilateral upper extremity bypass and thoracic endovascular aortic repair with debranching of the right and left subclavian arteries. This was followed by coil and plug embolization to exclude the dissection and prevent subsequent endoleak.

  20. Stanford type A aortic dissection in a patient with Marfan syndrome during pregnancy: a case report.

    PubMed

    Kim, Won Ho; Bae, Jisue; Choi, Seung Won; Lee, Jong-Hwan; Kim, Chung Su; Cho, Hyun Sung; Lee, Sangmin M

    2016-02-01

    Aortic dissection during pregnancy is a devastating event for both the pregnant woman and the baby. We report a case of acute aortic dissection (Stanford type A) in a pregnant woman with Marfan syndrome at the 29(th) week of gestation. She underwent a cesarean section followed by an ascending aorta and total arch replacement with cardiopulmonary bypass, without a prior sternotomy. The hemodynamic parameters were kept stable during the cesarean section by using inotropes and vasopressors under transesophageal echocardiography monitoring. The newborn survived after endotracheal intubation and management in a neonatal intensive care unit. PMID:26885307

  1. The Beneficial Effect of Renin-Angiotensin-Aldosterone System Blockade in Marfan Syndrome Patients after Aortic Root Replacement

    PubMed Central

    Lee, Seung-Jun; Oh, Jaewon; Ko, Young-Guk; Lee, Sak; Chang, Byung-Chul; Lee, Do Yun; Kwak, Young-Ran

    2016-01-01

    Purpose In this study, we evaluated the long term beneficial effect of Renin-Angiotensin-Aldosterone System (RAAS) blockade therapy in treatment of Marfan aortopathy. Materials and Methods We reviewed Marfan syndrome (MFS) patients who underwent aortic root replacement (ARR) between January 1996 and January 2011. All patients were prescribed β-blockers indefinitely. We compared major aortic events including mortality, aortic dissection, and reoperation in patients without RAAS blockade (group 1, n=27) to those with (group 2, n=63). The aortic growth rate was calculated by dividing the diameter change on CT scans taken immediately post-operatively and the latest scan available. Results There were no differences in clinical parameters except for age which was higher in patients with RAAS blockade. In group 1, 2 (7%) deaths, 5 (19%) aortic dissections, and 7 (26%) reoperations occurred. In group 2, 3 (5%) deaths, 2 (3%) aortic dissections, and 3 (5%) reoperations occurred. A Kaplan-Meier plot demonstrated improved survival free from major aortic events in group 2. On multivariate Cox, RAAS blockade was an independent negative predictor of major aortic events (hazard ratio 0.38, 95% confidence interval 0.30-0.43, p=0.002). Mean diameter change in descending thoracic and supra-renal abdominal aorta was significantly higher in patients without RAAS blockade (p<0.05). Conclusion In MFS patients who underwent ARR, the addition of RAAS blockade to β-blocker was associated with reduction of aortic dilatation and clinical events. PMID:26632386

  2. MDE heteroduplex analysis of PCR products spanning each exon of the fibrillin (FBN1) gene greatly increases the efficiency of mutation detection in the Marfan syndrome

    SciTech Connect

    Nijbroek, G.; Dietz, H.C.; Pereira, L.; Ramirz, F.

    1994-09-01

    Defects in fibrillin (FNB1) cause the Marfan syndrome (MFS). Classic Marfan phenotype cosegregates with intragenic and/or flanking marker alleles in all families tested and a significant number of FBN1 mutations have been identified in affected individuals. Using a standard method of mutation detection, SSCP analysis of overlapping RT-PCR amplimers that span the entire coding sequence, the general experience has been a low yield of identifiable mutations, ranging from 10-20%. Possible explanations included low sensitivity of mutation screening procedures, under-representation of mutant transcript in patient samples either due to deletions or mutant alleles containing premature termination codons, clustering of mutations in yet uncharacterized regions of the gene, including regulatory elements, or genetic heterogeneity. In order to compensate for a potential reduced mutant transcript stability, we have devised a method to screen directly from genomic DNA. The intronic boundaries flanking each of the 65 FBN1 exons were characterized and primer pairs were fashioned such that all splice junctions would be included in the resultant amplimers. The entire gene was screened for a panel of 9 probands with classic Marfan syndrome using mutation detection enhancement (MDE) gel heteroduplex analysis. A mutation was identified in 5/9 (55%) of patient samples. All were either missense mutations involving a cysteine residue or small deletions that did not create a frame shift. In addition, 10 novel polymorphisms were found. We conclude that the majority of mutations causing Marfan syndrome reside in the FBN1 gene and that mutations creating premature termination codons are not the predominant cause of inefficient mutation detection using RT-PCR. We are currently modifying screening methods to increase sensitivity and targeting putative FBN1 gene promoter sequences for study.

  3. A recurrent fibrillin-1 mutation in severe early onset Marfan syndrome

    PubMed Central

    Sureka, Dimple; Stheneur, Chantal; Odent, Sylvie; Arno, Gavin; Murphy, Daniel; Bernstein, Jonathan A.

    2014-01-01

    The recurrent substitution of isoleucine for threonine at codon 1048 (I1048T) substitution has been linked to severe, early onset Marfan syndrome, however, the existence of strong genotype-phenotype associations in Marfan syndrome (MFS) is not widely agreed upon. Our aim is to substantiate the association between the I1048T substitution and a severe clinical presentation to facilitate care planning and genetic counseling. We review the clinical findings from seven cases of early-onset MFS with a recurrent I1048T substitution. The presented findings include those from one newly diagnosed case, significant new detail from three additional cases, and a review of published findings in three cases. All seven individuals with the I1048T substitution had mitral insufficiency, arachnodactyly and characteristic facies consistent with early-onset MFS. Our findings support the existence of a genotype-phenotype correlation between the I1048T substitution and early-onset MFS. Recognition of this relationship has implications for genetic counseling and clinical care. Additionally, exploration of how the I1048T substitution results in a severe phenotype may lead to further insight into the pathophysiology of MFS.

  4. A recurrent fibrillin-1 mutation in severe early onset Marfan syndrome.

    PubMed

    Sureka, Dimple; Stheneur, Chantal; Odent, Sylvie; Arno, Gavin; Murphy, Daniel; Bernstein, Jonathan A

    2014-09-01

    The recurrent substitution of isoleucine for threonine at codon 1048 (I1048T) substitution has been linked to severe, early onset Marfan syndrome, however, the existence of strong genotype-phenotype associations in Marfan syndrome (MFS) is not widely agreed upon. Our aim is to substantiate the association between the I1048T substitution and a severe clinical presentation to facilitate care planning and genetic counseling. We review the clinical findings from seven cases of early-onset MFS with a recurrent I1048T substitution. The presented findings include those from one newly diagnosed case, significant new detail from three additional cases, and a review of published findings in three cases. All seven individuals with the I1048T substitution had mitral insufficiency, arachnodactyly and characteristic facies consistent with early-onset MFS. Our findings support the existence of a genotype-phenotype correlation between the I1048T substitution and early-onset MFS. Recognition of this relationship has implications for genetic counseling and clinical care. Additionally, exploration of how the I1048T substitution results in a severe phenotype may lead to further insight into the pathophysiology of MFS. PMID:27625872

  5. Muscle and Bone Impairment in Children With Marfan Syndrome: Correlation With Age and FBN1 Genotype.

    PubMed

    Haine, Elsa; Salles, Jean-Pierre; Khau Van Kien, Philippe; Conte-Auriol, Françoise; Gennero, Isabelle; Plancke, Aurélie; Julia, Sophie; Dulac, Yves; Tauber, Maithé; Edouard, Thomas

    2015-08-01

    Marfan syndrome (MFS) is a rare connective tissue disorder caused by mutation in the gene encoding the extracellular matrix protein fibrillin-1 (FBN1), leading to transforming growth factor-beta (TGF-β) signaling dysregulation. Although decreased axial and peripheral bone mineral density (BMD) has been reported in adults with MFS, data about the evolution of bone mass during childhood and adolescence are limited. The aim of the present study was to evaluate bone and muscle characteristics in children, adolescents, and young adults with MFS. The study population included 48 children and young adults (22 girls) with MFS with a median age of 11.9 years (range 5.3 to 25.2 years). The axial skeleton was analyzed at the lumbar spine using dual-energy X-ray absorptiometry (DXA), whereas the appendicular skeleton (hand) was evaluated using the BoneXpert system (with the calculation of the Bone Health Index). Muscle mass was measured by DXA. Compared with healthy age-matched controls, bone mass at the axial and appendicular levels and muscle mass were decreased in children with MFS and worsened from childhood to adulthood. Vitamin D deficiency (<50 nmol/L) was found in about a quarter of patients. Serum vitamin D levels were negatively correlated with age and positively correlated with lumbar spine areal and volumetric BMD. Lean body mass (LBM) Z-scores were positively associated with total body bone mineral content (TB-BMC) Z-scores, and LBM was an independent predictor of TB-BMC values, suggesting that muscle hypoplasia could explain at least in part the bone loss in MFS. Patients with a FBN1 premature termination codon mutation had a more severe musculoskeletal phenotype than patients with an inframe mutation, suggesting the involvement of TGF-β signaling dysregulation in the pathophysiologic mechanisms. In light of these results, we recommend that measurement of bone mineral status should be part of the longitudinal clinical investigation of MFS children. PMID

  6. Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons.

    PubMed Central

    Nijbroek, G; Sood, S; McIntosh, I; Francomano, C A; Bull, E; Pereira, L; Ramirez, F; Pyeritz, R E; Dietz, H C

    1995-01-01

    Mutations in the gene encoding fibrillin-1 (FBN1), a component of the extracellular microfibril, cause the Marfan syndrome (MFS). This statement is supported by the observations that the classic Marfan phenotype cosegregates with intragenic and/or flanking marker alleles in all families tested and that a significant number of FBN1 mutations have been identified in affected individuals. We have now devised a method to screen the entire coding sequence and flanking splice junctions of FBN1. On completion for a panel of nine probands with classic MFS, six new mutations were identified that accounted for disease in seven (78%) of nine patients. Nine additional new mutations have been characterized in the early stages of a larger screening project. These 15 mutations were equally distributed throughout the gene and, with one exception, were specific to single families. One-third of mutations created premature termination codons, and 6 of 15 substituted residues with putative significance for calcium binding to epidermal growth factor (EGF)-like domains. Mutations causing severe and rapidly progressive disease that presents in the neonatal period can occur in a larger region of the gene than previously demonstrated, and the nature of the mutation is as important a determinant as its location, in predisposing to this phenotype. Images Figure 1 Figure 2 Figure 3 PMID:7611299

  7. [Marfan's syndrome presented with dissected thoraco-abdominal aneurism and pregnancy. A case report].

    PubMed

    Mendoza-Alvarez, Sergio Alberto; Fuentes-León, Jorge; Vargas-Ayala, Germán; Hernández-González, Claudia; López-Arias, Gabriela; Vera-Lastra, Olga

    2009-01-01

    A 39-year-old patient diagnosed two years previously with Marfan Syndrome (MS) and thoraco-abdominal aneurysm, both presented with the following symptoms: occasional mild effort dyspnea and thoracic pain. The patient started her current illness at 28 weeks of pregnancy with an exacerbation of a deep, oppressive thoracic pain and orthopnea. The echocardiogram showed a 10 cm diameter aortic aneurysm with involvement of the aortic root, tho-racoabdominal and dissection. The computed tomography reported aneurysmatic dilatation of the aortic root and dissection of the thoracic and abdominal portion. Until the delivery of pregnancy the patient was treated successfully with meto-prolol, prazocin, and diuretics. A cesarean section at 29 weeks of pregnancy was practiced. PMID:20602908

  8. Repair of Multiple Subclavian and Axillary Artery Aneurysms in a 58-Year-Old Man with Marfan Syndrome

    PubMed Central

    Dolapoglu, Ahmet; Preventza, Ourania; Coselli, Joseph S.

    2016-01-01

    Dilation of the ascending aorta and aortic dissections are often seen in Marfan syndrome; however, true aneurysms of the subclavian and axillary arteries rarely seem to develop in patients who have this disease. We present the case of a 58-year-old man with Marfan syndrome who had undergone a Bentall procedure and thoracoabdominal aortic repair for an aortic dissection and who later developed multiple aneurysmal dilations of his right subclavian and axillary arteries. The aneurysms were successfully repaired by means of a surgical bypass technique in which a Dacron graft was placed between the carotid and brachial arteries. We also discuss our strategy for determining the optimal surgical approach in these patients. PMID:27777529

  9. Retropupillary iris-claw intraocular lens in ectopia lentis in Marfan syndrome

    PubMed Central

    Faria, Mun Yueh; Ferreira, Nuno; Neto, Eliana

    2016-01-01

    Objective To report visual outcomes, complication rate, and safety of retropupillary iris-claw intraocular lens (ICIOL) in ectopia lentis in Marfan syndrome (MFS). Design Retrospective study. Methods Six eyes of three MFS patients with ectopia lentis underwent surgery for subluxation lens and retropupillary ICIOL implantation from October 2014 to October 2015 at the Department of Ophthalmology, Santa Maria Hospital in Lisbon, Portugal. Demographics, preoperative and postoperative best-corrected visual acuity (BCVA), and intraocular pressure were evaluated. Endothelium cell count was assessed using specular microscopy; anterior chamber depth was measured using Pentacam postoperatively; and intraocular lens position was viewed by ultrasound biomicroscopy. All patients were female; mean age was 20±14.264 years (range: 7–38 years). Results The average follow-up period was 6.66 months (range: 4–16 months). Preoperative BCVA was 0.568±0.149 logMAR units, and postoperative BCVA was 0.066±0.121 logMAR units. The mean BCVA gain was −0.502±0.221 on the logMAR scale. Postoperative average astigmatism and intraocular pressure were 1.292±0.697 mmHg (range: 0.5–2.25 mmHg) and 16 mmHg (range: 12–18 mmHg), respectively. The average endothelial cell density decreased from 3,121±178 cells/mm2 before surgery to 2,835±533 cells/mm2 after surgery (measured at last follow-up visit) and in the last follow-up, representing an average endothelial cell loss of 9.16%. Mean anterior chamber depth was 4.01 mm (±0.77 mm), as measured by Pentacam. No complications were found intra- or postoperatively in any of the six studied eyes. Conclusion Retropupillary ICIOL implantation is a safe and effective procedure in the treatment of aphakia in MFS eyes, without capsular support after surgery for ectopia lens. The six eyes that underwent lensectomy and retropupillary ICIOL implantation have had excellent visual outcomes with no complications so far. PMID:27382335

  10. Marfan Syndrome

    MedlinePlus

    ... d looked forward to trying out for the basketball team. He'd be a natural, everyone told ... of getting hit in the chest — things like basketball, football, baseball, gymnastics, weightlifting, and track. That may ...

  11. Marfan syndrome

    MedlinePlus

    ... to slow the heart rate may help prevent stress on the aorta. To avoid injuring the aorta, people with the condition should avoid participating in contact sports. Some people may need surgery to replace the ...

  12. Myocardial ischemia due to compression of an unruptured thoracic aortic aneurysm in a patient with Marfan syndrome.

    PubMed

    Minami, Hiroya; Asada, Tatsuro; Gan, Kunio; Abe, Koichiro; Izumi, Satoshi

    2007-06-01

    We report a 33-year-old woman who had a 60-mm thoracic aneurysm of the ascending aorta with Marfan syndrome and effort angina due to compression of the right coronary artery (RCA) by the aneurysm. Surgery was performed using the Bentall procedure and a coronary artery bypass graft to the RCA. Postoperatively, coronary angiography showed that the coronary flow of the RCA was restored by removing the aneurysmal compression. The patient was discharged without angina on postoperative day 21. PMID:17642279

  13. Gene polymorphisms as risk factors for predicting the cardiovascular manifestations in Marfan syndrome. Role of folic acid metabolism enzyme gene polymorphisms in Marfan syndrome.

    PubMed

    Benke, Kálmán; Ágg, Bence; Mátyás, Gábor; Szokolai, Viola; Harsányi, Gergely; Szilveszter, Bálint; Odler, Balázs; Pólos, Miklós; Maurovich-Horvat, Pál; Radovits, Tamás; Merkely, Béla; Nagy, Zsolt B; Szabolcs, Zoltán

    2015-10-01

    Folic acid metabolism enzyme polymorphisms are believed to be responsible for the elevation of homocysteine (HCY) concentration in the blood plasma, correlating with the pathogenesis of aortic aneurysms and aortic dissection. We studied 71 Marfan patients divided into groups based on the severity of cardiovascular involvement: no intervention required (n=27, Group A); mild involvement requiring intervention (n=17, Group B); severe involvement (n=27, Group C) subdivided into aortic dilatation (n=14, Group C1) and aortic dissection (n=13, Group C2), as well as 117 control subjects. We evaluated HCY, folate, vitamin B12 and the polymorphisms of methylenetetrahydrofolate reductase (MTHFR;c.665C>T and c.1286A>C), methionine synthase (MTR;c.2756A>G) and methionine synthase reductase (MTRR;c.66A>G). Multiple comparisons showed significantly higher levels of HCY in Group C2 compared to Groups A, B, C1 and control group (p<0.0001, p<0.0001, p=0.001 and p=0.003, respectively). Folate was lower in Group C2 than in Groups A, B, C1 and control subjects (p<0.0001, p=0.02, p<0.0001 and p<0.0001, respectively). Group C2 had the highest prevalence of homozygotes for all four gene polymorphisms. Multivariate logistic regression analysis revealed that HCY plasma level was an independent risk factor for severe cardiovascular involvement (Group C; odds ratio [OR] 1.85, 95% confidence interval [CI] 1.28-2.67, p=0.001) as well as for aortic dissection (Group C2; OR 2.49, 95%CI 1.30-4.78, p=0.006). In conclusion, severe cardiovascular involvement in Marfan patients, and especially aortic dissection, is associated with higher HCY plasma levels and prevalence of homozygous genotypes of folic acid metabolism enzymes than mild or no cardiovascular involvement. These results suggest that impaired folic acid metabolism has an important role in the development and remodelling of the extracellular matrix of the aorta.

  14. [Surgical management of a dissecting aneurysm of the thoracic aorta in a patient with Marfan's syndrome - case report].

    PubMed

    Dinis Da Gama, A; Marcelino, João Luís; Damião, Angélica; Evangelista, Ana; Ministro, Augusto

    2011-01-01

    Marfan's Syndrome is a rare connective tissue disease whose surgical treatment presents several challenges. The existing criteria and recommendations on how and when to surgically approach this disease is almost exclusively confined to the root and ascending aorta, in contrast to the variability of indications on the involvement of the remaining segments of the thoracic and abdominal aorta, due to the multiplicity, morphology and topography of these involvements. This case report is related to a 39 year old woman with Marfan's syndrome, with a type B chronic dissection and a segmentar aneurysm of the proximal descending thoracic aorta with 6,1cm of maximum diameter. The clinical and imagiologic evaluation pointed out the absence of any disorder of the heart, root or ascending aorta. The patient underwent surgical management of the dissecting aneurysm through a transthoracic approach to the aneurysm, with fenestration of the distal aorta and exclusion of the aneurism and intercostal arteries. The efficacy and result of the procedure in addition to the rarity of the vascular pathology presented by the patient, even in the context of a Marfan, completely justify the presentation and disclosure of this clinical case. PMID:23560272

  15. Characteristics of children and young adults with Marfan syndrome and aortic root dilation in a randomized trial comparing atenolol and losartan therapy

    PubMed Central

    Lacro, Ronald V.; Guey, Lin T.; Dietz, Harry C.; Pearson, Gail D.; Yetman, Anji T.; Gelb, Bruce D.; Loeys, Bart L.; Benson, D. Woodrow; Bradley, Timothy J.; De Backer, Julie; Forbus, Geoffrey A.; Klein, Gloria L.; Lai, Wyman W.; Levine, Jami C.; Lewin, Mark B.; Markham, Larry W.; Paridon, Stephen M.; Pierpont, Mary Ella; Radojewski, Elizabeth; Selamet Tierney, Elif Seda; Sharkey, Angela M.; Wechsler, Stephanie Burns; Mahony, Lynn

    2013-01-01

    Background The Pediatric Heart Network designed a clinical trial to compare aortic root growth and other short-term cardiovascular outcomes in children and young adults with Marfan syndrome randomized to receive atenolol or losartan. We report here the characteristics of the screened population and enrolled subjects. Methods and results Between 2007 and 2011, 21 clinical sites randomized 608 subjects, aged 6 months to 25 years who met the original Ghent criteria and had a body surface area–adjusted aortic root diameter z-score >3.0. The mean age at study entry was 11.2 years, 60% were male, and 25% were older teenagers and young adults. The median aortic root diameter z-score was 4.0. Aortic root diameter z-score did not vary with age. Mitral valve prolapse and mitral regurgitation were more common in females. Among those with a positive family history, 56% had a family member with aortic surgery, and 32% had a family member with a history of aortic dissection. Conclusions Baseline demographic, clinical, and anthropometric characteristics of the randomized cohort are representative of patients in this population with moderate to severe aortic root dilation. The high percentage of young subjects with relatives who have had aortic dissection or surgery illustrates the need for more definitive therapy; we expect that the results of the study and the wealth of systematic data collected will make an important contribution to the management of individuals with Marfan syndrome. PMID:23622922

  16. Postmortem diagnosis of Marfan syndrome in a case of sudden death due to aortic rupture: Detection of a novel FBN1 frameshift mutation.

    PubMed

    Wang, Yunyun; Chen, Shu; Wang, Rongshuai; Huang, Sizhe; Yang, Mingzhen; Liu, Liang; Liu, Qian

    2016-04-01

    To investigate the sudden death of a 36-year-old Chinese man, a medicolegal autopsy was performed, combining forensic pathological examinations and genetic sequencing analysis to diagnose the cause of death. Genomic DNA samples were extracted from blood and subjected to high-throughput sequencing. Major findings included a dilated aortic root with a ruptured and dissected aorta and consequent tamponade of the pericardial sac. Moreover, arachnodactyly and other skeletal deformities were noted. By sequencing the fibrillin-1 gene (FBN1), five genetic variations were found, including four previously known single nucleotide polymorphisms (SNPs) and a novel frameshift mutation, leading to the diagnosis of Marfan syndrome. The frameshift mutation (c.4921delG, p.glu1641llysFsX9) detected in exon 40 led to a stop codon after the next 8 amino acids. The four SNPs included a splice site mutation (c.3464-5 G>A, rs11853943), a synonymous mutation (p.Asn625Asn, rs25458), and two missense mutations (p.Pro1148Ala, rs140598; p.Cys472Tyr, rs4775765). Genetic screening was recommended for the relatives as it was reported that the father and brother of the deceased had died at the ages of 40 and 25, respectively, from sudden cardiac failure. The son of the deceased lacked the relevant mutations. This report emphasizes the important contribution of medicolegal postmortem analysis on the molecular pathogenesis study of Marfan syndrome and early diagnosis of at-risk relatives.

  17. Genetic analysis of the contribution of LTBP-3 to thoracic aneurysm in Marfan syndrome

    PubMed Central

    Zilberberg, Lior; Phoon, Colin K. L.; Robertson, Ian; Dabovic, Branka; Ramirez, Francesco; Rifkin, Daniel B.

    2015-01-01

    Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue, caused by mutations of the microfibrillar protein fibrillin-1, that predisposes affected individuals to aortic aneurysm and rupture and is associated with increased TGFβ signaling. TGFβ is secreted from cells as a latent complex consisting of TGFβ, the TGFβ propeptide, and a molecule of latent TGFβ binding protein (LTBP). Improper extracellular localization of the latent complex can alter active TGFβ levels, and has been hypothesized as an explanation for enhanced TGFβ signaling observed in MFS. We previously reported the absence of LTBP-3 in matrices lacking fibrillin-1, suggesting that perturbed TGFβ signaling in MFS might be due to defective interaction of latent TGFβ complexes containing LTBP-3 with mutant fibrillin-1 microfibrils. To test this hypothesis, we genetically suppressed Ltbp3 expression in a mouse model of progressively severe MFS. Here, we present evidence that MFS mice lacking LTBP-3 have improved survival, essentially no aneurysms, reduced disruption and fragmentation of medial elastic fibers, and decreased Smad2/3 and Erk1/2 activation in their aortas. These data suggest that, in MFS, improper localization of latent TGFβ complexes composed of LTBP-3 and TGFβ contributes to aortic disease progression. PMID:26494287

  18. Genetic analysis of the contribution of LTBP-3 to thoracic aneurysm in Marfan syndrome.

    PubMed

    Zilberberg, Lior; Phoon, Colin K L; Robertson, Ian; Dabovic, Branka; Ramirez, Francesco; Rifkin, Daniel B

    2015-11-10

    Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue, caused by mutations of the microfibrillar protein fibrillin-1, that predisposes affected individuals to aortic aneurysm and rupture and is associated with increased TGFβ signaling. TGFβ is secreted from cells as a latent complex consisting of TGFβ, the TGFβ propeptide, and a molecule of latent TGFβ binding protein (LTBP). Improper extracellular localization of the latent complex can alter active TGFβ levels, and has been hypothesized as an explanation for enhanced TGFβ signaling observed in MFS. We previously reported the absence of LTBP-3 in matrices lacking fibrillin-1, suggesting that perturbed TGFβ signaling in MFS might be due to defective interaction of latent TGFβ complexes containing LTBP-3 with mutant fibrillin-1 microfibrils. To test this hypothesis, we genetically suppressed Ltbp3 expression in a mouse model of progressively severe MFS. Here, we present evidence that MFS mice lacking LTBP-3 have improved survival, essentially no aneurysms, reduced disruption and fragmentation of medial elastic fibers, and decreased Smad2/3 and Erk1/2 activation in their aortas. These data suggest that, in MFS, improper localization of latent TGFβ complexes composed of LTBP-3 and TGFβ contributes to aortic disease progression.

  19. Imaging, Endoscopic and Genetic Assessment of Marfan Syndrome Presenting with Sigmoid Volvulus: A Review

    PubMed Central

    Hurairah, Abu; Shaikh, Faiq

    2016-01-01

    The Marfan syndrome (MFS) is a pleiotropic, autosomal dominant disorder of connective tissue with highly variable clinical manifestations. It primarily involves the skeletal, cardiovascular, and ocular systems; however, gastrointestinal complications are rare. Herein, we describe the case of a 31-year-old male who initially presented with acute abdominal pain for one day. His imaging features revealed a dilated sigmoid colon, consistent with sigmoid volvulus that was immediately decompressed. Surgical resection was recommended to treat the sigmoid volvulus. Preceding the treatment, the patient underwent an extensive workup, including an echocardiography that revealed aortic root dilatation. His clinical history, physical exam, and echocardiographic findings raised the suspicion for MFS. Subsequently, the diagnosis of MFS was confirmed on genetic testing. This is a case that highlights the multidisciplinary (clinical, radiological, endoscopic, molecular/genetic) approach to diagnose a patient with MFS who presented with symptomatic sigmoid volvulus. As this presentation may be a harbinger of more severe manifestations of MFS, it is important to identify it as such in order to accomodate for timely management. PMID:27382527

  20. High incidence and severity of periodontitis in patients with Marfan syndrome in Japan.

    PubMed

    Suzuki, Jun-Ichi; Imai, Yasushi; Aoki, Mieko; Fujita, Daishi; Aoyama, Norio; Tada, Yuko; Akazawa, Hiroshi; Izumi, Yuichi; Isobe, Mitsuaki; Komuro, Issei; Nagai, Ryozo; Hirata, Yasunobu

    2015-09-01

    Marfan syndrome (MFS) is a systemic connective tissue disorder caused by mutations in the extracellular matrix protein fibrillin-1. While it is known that patients with MFS are at high risk of dental disorders and cardiovascular diseases, little information has been provided to date. To clarify the prevalence of periodontitis in patients with MFS, their oral condition and cardiovascular complications were evaluated. The subjects were patients with MFS (n = 40) who attended the University of Tokyo hospital; age- and gender-matched healthy individuals (n = 14) constituted a control group. Cardiovascular complications and full-mouth clinical measurements, including number of teeth, probing of pocket depth (PD), bleeding on probing (BOP), and community periodontal index (CPI) were recorded. MFS patients had more frequent cardiovascular complications (95 %) compared with the controls (0 %). MFS patients had periodontitis (CPI 3 and 4) more frequently (87.5 %) than the age- and gender-matched control subjects (35.7 %). Furthermore, MFS patients had significantly more severe periodontitis (CPI 2.90 ± 0.12 vs 1.64 ± 0.32) and fewer remaining teeth (26.7 ± 0.4 vs 28.4 ± 0.4) compared with the controls. However, PD and BOP were comparable between MFS patients and the control group. A high incidence of periodontitis and cardiovascular complications was observed in Japanese MFS patients.

  1. Identification of fibrillin 1 gene mutations in patients with bicuspid aortic valve (BAV) without Marfan syndrome

    PubMed Central

    2014-01-01

    Background Bicuspid aortic valve (BAV) is the most frequent congenital heart disease with frequent involvement in thoracic aortic dilatation, aneurysm and dissection. Although BAV and Marfan syndrome (MFS) share some clinical features, and some MFS patients with BAV display mutations in FBN1, the gene encoding fibrillin-1, the genetic background of isolated BAV is poorly defined. Methods Ten consecutive BAV patients [8 men, age range 24–42 years] without MFS were clinically characterized. BAV phenotype and function, together with evaluation of aortic morphology, were comprehensively assessed by Doppler echocardiography. Direct sequencing of each FBN1 exon with flanking intron sequences was performed on eight patients. Results We detected three FBN1 mutations in two patients (aged 24 and 25 years) displaying aortic root aneurysm ≥50 mm and moderate aortic regurgitation. In particular, one patient had two mutations (p.Arg2726Trp and p.Arg636Gly) one of which has been previously associated with variable Marfanoid phenotypes. The other patient showed a pArg529Gln substitution reported to be associated with an incomplete MFS phenotype. Conclusions The present findings enlarge the clinical spectrum of isolated BAV to include patients with BAV without MFS who have involvement of FBN1 gene. These results underscore the importance of accurate phenotyping of BAV aortopathy and of clinical characterization of BAV patients, including investigation of systemic connective tissue manifestations and genetic testing. PMID:24564502

  2. A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias.

    PubMed

    Jensen, Sacha A; Iqbal, Sarah; Bulsiewicz, Alicja; Handford, Penny A

    2015-08-01

    Fibrillin-1 is the major component of the 10-12 nm diameter extracellular matrix microfibrils. The majority of mutations affecting the human fibrillin-1 gene, FBN1, result in Marfan syndrome (MFS), a common connective tissue disorder characterised by tall stature, ocular and cardiovascular defects. Recently, stiff skin syndrome (SSS) and a group of syndromes known collectively as the acromelic dysplasias, which typically result in short stature, skin thickening and joint stiffness, have been linked to FBN1 mutations that affect specific domains of the fibrillin-1 protein. Despite their apparent phenotypic differences, dysregulation of transforming growth factor β (TGFβ) is a common factor in all of these disorders. Using a newly developed assay to track the secretion and incorporation of full-length, GFP-tagged fibrillin-1 into the extracellular matrix, we investigated whether or not there were differences in the secretion and microfibril assembly profiles of fibrillin-1 variants containing substitutions associated with MFS, SSS or the acromelic dysplasias. We show that substitutions in fibrillin-1 domains TB4 and TB5 that cause SSS and the acromelic dysplasias do not prevent fibrillin-1 from being secreted or assembled into microfibrils, whereas MFS-associated substitutions in these domains result in a loss of recombinant protein in the culture medium and no association with microfibrils. These results suggest fundamental differences in the dominant pathogenic mechanisms underlying MFS, SSS and the acromelic dysplasias, which give rise to TGFβ dysregulation associated with these diseases. PMID:25979247

  3. Work participation in adults with Marfan syndrome: Demographic characteristics, MFS related health symptoms, chronic pain, and fatigue.

    PubMed

    Velvin, Gry; Bathen, Trine; Rand-Hendriksen, Svend; Geirdal, Amy Østertun

    2015-12-01

    Marfan syndrome (MFS) is a severe autosomal dominant connective tissue disorder that might influence peoples work ability. This cross sectional study aims to investigate work participation in adults with verified MFS diagnosis and to explore how the health related consequences of MFS and other factors might influence work participation. The prevalence of health problems in young adults compared to older adults with MFS was examined in association to work participation. A postal questionnaire including questions about work participation, demographic characteristics, MFS related health problems, chronic pain, and fatigue was sent to 117 adults with verified MFS (Ghent 1), and 62% answered. Fifty-nine percent were employed or students, significantly lower work participation than the General Norwegian Population (GNP), but higher than the Norwegian population of people with disability. Most young adults worked full-time despite extensive health problems, but the average age for leaving work was low. Few had received any work adaptations prior to retiring from work. In multiple logistic regression analysis, only age, lower educational level and severe fatigue were significantly associated with low work participation; not MFS related health problems or chronic pain. Fatigue appears to be the most challenging health problem to deal with in work, but the covariance is complex. Focus on vocational guidance early in life, more appropriate work adaptations, and psychosocial support might improve the possibility for sustaining in work for adults with MFS. More research about work challenges in adults with MFS is needed.

  4. β-blockers and Angiotensin Converting Enzyme Inhibitors: Comparison of Effects on Aortic Growth in Pediatric Patients with Marfan Syndrome

    PubMed Central

    Phomakay, Venusa; Huett, Wilson G.; Gossett, Jeffrey M.; Tang, Xinyu; Bornemeier, Renee A.; Collins, R. Thomas

    2015-01-01

    Objectives Angiotensin converting enzyme inhibitors (ACEI) have been shown to decrease AGV in Marfan syndrome (MFS). We sought to compare the effect of β-blockers and ACEI on aortic growth velocity (AGV) in MFS. Study design We reviewed retrospectively all data from all patients with MFS seen at Arkansas Children’s Hospital between January 1, 1976 and January 1, 2013. Generalized least squares were used to evaluate AGV over time as a function of age, medication group, and the interaction between the two. A mixed model was used to compare AGV between medication groups as a function of age, medication group (none, β-blocker, ACEI), and the interaction between the two. Results A total of 67 patients with confirmed MFS were identified (34/67, 51% female). Mean age at first encounter was 13 ± 10 years, with mean follow-up of 7.6 ± 5.8 years. There were 839 patient encounters with a median of 10 (range 2–42) encounters per patient. AGV was nearly normal in the β-blocker group, and was less than either the ACEI or untreated groups. The AGV was higher than normal in ACEI and untreated groups (p<0.001 for both). Conclusions β-blocker therapy results in near-normalization of AGV in MFS. ACEI did not decrease AGV in a clinically significant manner. PMID:25109242

  5. Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome

    PubMed Central

    von Kodolitsch, Yskert; De Backer, Julie; Schüler, Helke; Bannas, Peter; Behzadi, Cyrus; Bernhardt, Alexander M; Hillebrand, Mathias; Fuisting, Bettina; Sheikhzadeh, Sara; Rybczynski, Meike; Kölbel, Tilo; Püschel, Klaus; Blankenberg, Stefan; Robinson, Peter N

    2015-01-01

    Three international nosologies have been proposed for the diagnosis of Marfan syndrome (MFS): the Berlin nosology in 1988; the Ghent nosology in 1996 (Ghent-1); and the revised Ghent nosology in 2010 (Ghent-2). We reviewed the literature and discussed the challenges and concepts of diagnosing MFS in adults. Ghent-1 proposed more stringent clinical criteria, which led to the confirmation of MFS in only 32%–53% of patients formerly diagnosed with MFS according to the Berlin nosology. Conversely, both the Ghent-1 and Ghent-2 nosologies diagnosed MFS, and both yielded similar frequencies of MFS in persons with a causative FBN1 mutation (90% for Ghent-1 versus 92% for Ghent-2) and in persons not having a causative FBN1 mutation (15% versus 13%). Quality criteria for diagnostic methods include objectivity, reliability, and validity. However, the nosology-based diagnosis of MFS lacks a diagnostic reference standard and, hence, quality criteria such as sensitivity, specificity, or accuracy cannot be assessed. Medical utility of diagnosis implies congruency with the historical criteria of MFS, as well as with information about the etiology, pathogenesis, diagnostic triggers, prognostic triggers, and potential complications of MFS. In addition, social and psychological utilities of diagnostic criteria include acceptance by patients, patient organizations, clinicians and scientists, practicability, costs, and the reduction of anxiety. Since the utility of a diagnosis or exclusion of MFS is context-dependent, prioritization of utilities is a strategic decision in the process of nosology development. Screening tests for MFS should be used to identify persons with MFS. To confirm the diagnosis of MFS, Ghent-1 and Ghent-2 perform similarly, but Ghent-2 is easier to use. To maximize the utility of the diagnostic criteria of MFS, a fair and transparent process of nosology development is essential. PMID:26124674

  6. Combined mitral valve replacement associated with the Bentall procedure, diaphragmatic hernia repair and reconstruction of the pectus excavatum in a 26-year-old patient with Marfan syndrome

    PubMed Central

    Stępiński, Piotr; Aboul-Hassan, Sleiman Sebastian; Szymańska, Anna; Marczak, Jakub; Cichoń, Romuald

    2016-01-01

    A 26-year-old man with Marfan syndrome was admitted as an emergency patient with ascending aorta aneurysm, severe mitral and aortic regurgitation, diaphragmatic hernia and pectus excavatum. After completion of diagnostics a combined surgical procedure was performed. PMID:27516786

  7. Fatal Case of Brucellosis Misdiagnosed in Early Stages of Brucella suis Infection in a 46-Year-Old Patient with Marfan Syndrome

    PubMed Central

    Carrington, M.; Choe, U.; Ubillos, S.; Stanek, D.; Campbell, M.; Wansbrough, L.; Lee, P.; Churchwell, G.; Rosas, K.; Zaki, S. R.; Drew, C.; Paddock, C. D.; DeLeon-Carnes, M.; Guerra, M.; Hoffmaster, A. R.; Tiller, R. V.

    2012-01-01

    We report a fatal case of Brucella suis endocarditis initially misdiagnosed by automated identification systems as Ochrobactrum anthropi infection in a patient with a history of Marfan syndrome and recreational feral swine hunting. This report emphasizes the need to consider brucellosis as a part of the differential diagnosis of acute febrile illness, particularly in patients with known risk of exposure. PMID:22495564

  8. Aortic root disease in athletes: aortic root dilation, anomalous coronary artery, bicuspid aortic valve, and Marfan's syndrome.

    PubMed

    Yim, Eugene Sun

    2013-08-01

    Two professional athletes in the U.S. National Basketball Association required surgery for aortic root dilation in 2012. These cases have attracted attention in sports medicine to the importance of aortic root disease in athletes. In addition to aortic root dilation, other forms of aortic disease include anomalous coronary artery, bicuspid aortic valve, and Marfan's syndrome. In this review, electronic database literature searches were performed using the terms "aortic root" and "athletes." The literature search produced 122 manuscripts. Of these, 22 were on aortic root dilation, 21 on anomalous coronary arteries, 12 on bicuspid aortic valves, and 8 on Marfan's syndrome. Aortic root dilation is a condition involving pathologic dilation of the aortic root, which can lead to life-threatening sequelae. Prevalence of the condition among athletes and higher risk athletes in particular sports needs to be better delineated. Normative parameters for aortic root diameter in the general population are proportionate to anthropomorphic variables, but this has not been validated for athletes at the extremes of anthropomorphic indices. Although echocardiography is the favored screening modality, computed tomography (CT) and cardiac magnetic resonance imaging (MRI) are also used for diagnosis and surgical planning. Medical management has utilized beta-blockers, with more recent use of angiotensin-converting enzyme (ACE) inhibitors, angiotensin II receptor blockers (ARBs), and statins. Indications for surgery are based on comorbidities, degree of dilation, and rate of progression. Management decisions for aortic root dilation in athletes are nuanced and will benefit from the development of evidence-based guidelines. Anomalous coronary artery is another form of aortic disease with relevance in athletes. Diagnosis has traditionally been through cardiac catheterization, but more recently has included evaluation with echocardiography, multislice CT, and MRI. Athletes with this

  9. Long-term implications of emergency versus elective proximal aortic surgery in Marfan syndrome patients in the GenTAC Registry

    PubMed Central

    Song, Howard K.; Kindem, Mark; Bavaria, Joseph E.; Dietz, Harry C.; Milewicz, Dianna M.; Devereux, Richard B.; Eagle, Kim A.; Maslen, Cheryl L.; Kroner, Barbara L.; Pyeritz, Reed E.; Holmes, Kathryn W.; Weinsaft, Jonathan W.; Menashe, Victor; Ravekes, William; LeMaire, Scott A.

    2011-01-01

    Objective Marfan syndrome patients with aortic root aneurysms undergo elective aortic root replacement to avoid the life-threatening outcomes of aortic dissection and emergency repair. The long-term implications of failed aortic surveillance leading to acute dissection and emergency repair are poorly defined. We compared the long-term clinical courses of Marfan syndrome patients who survive emergency versus elective proximal aortic surgery. Methods The GenTAC Registry is an NIH-funded, multicenter database and biorepository that enrolls patients with genetically triggered thoracic aortic aneurysms. Of the 635 patients with Marfan syndrome enrolled as of March 2011, 194 had undergone proximal aortic replacement. Patients were grouped according to emergent (n=47) or elective (n=147) status at the time of surgery. Results Patients in the emergent group were more likely to have incomplete proximal aortic resection; 83% of emergency procedures included aortic root replacement, compared with 95% of elective procedures. At long-term follow-up (mean, >6 years), emergent patients had a higher incidence of chronic dissection of the distal aorta and had significantly larger diameters in distal aortic segments than elective patients. Additionally, emergent patients had undergone more operations (1.31 vs 1.11 procedures/patient; P=0.01) and had lower activity scores on a health-related quality-of-life survey. Conclusions For Marfan syndrome patients, failed aortic surveillance and consequent emergency dissection repair have important long-term implications with regard to status of the distal aorta, the need for multiple procedures, and quality of life. These findings emphasize the importance of aortic surveillance and timely elective aortic root aneurysm repair for Marfan syndrome patients. PMID:22104675

  10. Marfan Foundation

    MedlinePlus

    ... Foundation Brings its 32nd Annual Conference to Rochester, MN, August 4-7, 2016 The Marfan Foundation will hold its 32nd Annual Conference in Rochester, MN, on August 4-7. The conference, organized in ...

  11. Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene.

    PubMed

    Jacquinet, Adeline; Verloes, Alain; Callewaert, Bert; Coremans, Christine; Coucke, Paul; de Paepe, Anne; Kornak, Uwe; Lebrun, Frederic; Lombet, Jacques; Piérard, Gérald E; Robinson, Peter N; Symoens, Sofie; Van Maldergem, Lionel; Debray, François-Guillaume

    2014-04-01

    We report a 16-year-old girl with neonatal progeroid features and congenital lipodystrophy who was considered at birth as a possible variant of Wiedemann-Rautenstrauch syndrome. The emergence of additional clinical signs (marfanoid habitus, severe myopia and dilatation of the aortic bulb) lead to consider the diagnosis of the progeroid variant of Marfan syndrome. A de novo donor splice-site mutation (c.8226+1G>A) was identified in FBN1. We show that this mutation leads to exon 64 skipping and to the production of a stable mRNA that should allow synthesis of a truncated profibrillin-1, in which the C-terminal furin cleavage site is altered. FBN1 mutations associated with a similar phenotype have only been reported in four other patients. We confirm the correlation between marfanoid phenotype with congenital lipodystrophy and neonatal progeroid features (marfanoid-progeroid-lipodystrophy syndrome) and frameshift mutations at the 3' end of FBN1. This syndrome should be considered in differential diagnosis of neonatal progeroid syndromes.

  12. [Intra-operative Acute Aortic Dissection during Aortic Root Reimplantation and Mitral Valve Reconstruction Surgery in a Patient with Marfan Syndrome;Report of a Case].

    PubMed

    Teramoto, Chikao; Kawaguchi, Osamu; Araki, Yoshimori; Yoshikawa, Masaharu; Uchida, Wataru; Takemura, Gennta; Makino, Naoki

    2016-08-01

    In patients with Marfan syndrome, cardiovascular complication due to aortic dissection represents the primary cause of death. Iatrogenic acute aortic dissection during cardiac surgery is a rare, but serious adverse event. A 51-year-old woman with Marfan syndrome underwent elective aortic surgery and mitral valve reconstruction surgery for the enlarged aortic root and severe mitral regurgitation. We replaced the aortic root and ascending aorta based on reimplantation technique. During subsequent mitral valve reconstruction, we found the heart pushed up from behind. Trans-esophageal echocardiography revealed a dissecting flap in the thoracic descending aorta. There was just weak signal of blood flow in the pseudolumen. We did not add any additional procedures such as an arch replacement. Cardio-pulmonary bypass was successfully discontinued. After protamine sulfate administration and blood transfusion, blood flow in the pseudolumen disappeared. The patient was successfully discharged from the hospital on 33th postoperative day without significant morbidities. PMID:27476568

  13. Treatment of a Chronic Aneurysmal Aortic Dissection in a Patient with Marfan Syndrome Using a Staged Hybrid Procedure and a Fenestrated Endograft

    SciTech Connect

    Walkden, R. Miles Morgan, Rob A.; Loftus, Ian; Thompson, Matt

    2008-07-15

    Patients with aneurysmal dissections involving both the thoracic and the abdominal aorta are particularly challenging to treat with endovascular techniques because of the natural communications at the level of the visceral arteries. We present the case of a patient with Marfan syndrome with an aneurysmal aortic dissection involving the thoracic and abdominal aorta who was treated by a combination of endografts, surgical bypass, and a fenestrated tube graft.

  14. Recurrence of Marfan syndrome as a result of parental germ-line mosaicism for an FBN1 mutation.

    PubMed Central

    Rantamäki, T; Kaitila, I; Syvänen, A C; Lukka, M; Peltonen, L

    1999-01-01

    Mutations in the FBN1 gene cause Marfan syndrome (MFS), a dominantly inherited connective tissue disease. Almost all the identified FBN1mutations have been family specific, and the rate of new mutations is high. We report here a de novo FBN1mutation that was identified in two sisters with MFS born to clinically unaffected parents. The paternity and maternity were unequivocally confirmed by genotyping. Although one of the parents had to be an obligatory carrier for the mutation, we could not detect the mutation in the leukocyte DNA of either parent. To identify which parent was a mosaic for the mutation we analyzed several tissues from both parents, with a quantitative and sensitive solid-phase minisequencing method. The mutation was not, however, detectable in any of the analyzed tissues. Although the mutation could not be identified in a sperm sample from the father or in samples of multiple tissue from the mother, we concluded that the mother was the likely mosaic parent and that the mutation must have occurred during the early development of her germ-line cells. Mosaicism confined to germ-line cells has rarely been reported, and this report of mosaicism for the FBN1 mutation in MFS represents an important case, in light of the evaluation of the recurrence risk in genetic counseling of families with MFS. PMID:10090884

  15. Lack of segregation of a Marfan-like phenotype associating marfanoie habitus and mitral valve disease with fibrillin gene on chromosome 15

    SciTech Connect

    VanMaldergen, L.; Hilbert, P.; Gillerot, Y.

    1994-09-01

    Apart from typical Marfan syndrome (MS), several Marfan-like conditions are known. One of those is the MASS syndrome (Mitral involvement, Aortic dilatation, Skin and Skeletal abnormalities) defined by Pyeritz et al. Among these, a dominantly inherited mitral valve prolapse with marfanoid habitus have also been reported. Until now, except for a Marfan-like condition described by Boileau et al., all Marfan families are linked to fib 15. A large Belgian pedigree with 25 affected patients among 62 at risk subjects spanning four generations is described. A syndrome including marfanoid skeletal dysplasia (tall stature, dolichostenomelia, arachnodactyly, pectus carinatum joint dislocation), prolapse and/or myxomatous degeneration of the mitral valve, but without aortic dilatation of eye involvement was observed. Although the phenotype fulfills Berlin diagnostic criteria for MS, it closely resembles MASS syndrome. Preliminary linkage results show discordance aggregation insertion in the fib 15 gene, as evaluated by intragenic microsatellite fib 15. Since Dietz et al. described a similar patient with fib 15 gene, we suggest that this variant of Marfan syndrome is genetically heterogeneous and caused by mutations, some of which are allelic to classical Marfan syndrome plus a subtype, some of which are not. Linkage studies are under way to further characterize the gene involved in the present family.

  16. Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene.

    PubMed

    Graul-Neumann, Luitgard M; Kienitz, Tina; Robinson, Peter N; Baasanjav, Sevjidmaa; Karow, Benjamin; Gillessen-Kaesbach, Gabriele; Fahsold, Raimund; Schmidt, Hartmut; Hoffmann, Katrin; Passarge, Eberhard

    2010-11-01

    We report on a 25-year-old woman with pronounced generalized lipodystrophy and a progeroid aspect since birth, who also had Marfan syndrome (MFS; fulfilling the Ghent criteria) with mild skeletal features, dilated aortic bulb, dural ectasia, bilateral subluxation of the lens, and severe myopia in addition to the severe generalized lipodystrophy. She lacked insulin resistance, hypertriglyceridemia, hepatic steatosis, and diabetes. Mutation analysis in the gene encoding fibrillin 1 (FBN1) revealed a novel de novo heterozygous deletion, c.8155_8156del2 in exon 64. The severe generalized lipodystrophy in this patient with progeroid features has not previously been described in other patients with MFS and FBN1 mutations. We did not find a mutation in genes known to be associated with congenital lipodystrophy (APGAT2, BSCL2, CAV1, PTRF-CAVIN, PPARG, LMNB2) or with Hutchinson-Gilford progeria (ZMPSTE24, LMNA/C). Other progeria syndromes were considered unlikely because premature greying, hypogonadism, and scleroderma-like skin disease were not present. Our patient shows striking similarity to two patients who have been published in this journal by O'Neill et al. [O'Neill et al. (2007); Am J Med Genet Part A 143A:1421-1430] with the diagnosis of neonatal progeroid syndrome (NPS). This condition also known as Wiedemann-Rautenstrauch syndrome is a rare disorder characterized by accelerated aging and lipodystrophy from birth, poor postnatal weight gain, and characteristic facial features. The course is usually progressive with early lethality. However this entity seems heterogeneous. We suggest that our patient and the two similar cases described before represent a new entity, a subgroup of MFS with overlapping features to NPS syndrome.

  17. [General Anesthesia Using Remifentanil for Cesarean Section in a Parturient with Marfan Syndrome Associated with Heart Failure due to Severe Mitral Regurgitation].

    PubMed

    Fujita, Masahide; Satsumae, Tsuyoshi; Tanaka, Makoto

    2016-05-01

    A 24-year-old woman with Marfan syndrome was scheduled for cesarean section in order to avoid progression of heart failure due to severe mitral regurgitation and aortic dissection during labor. Cesarean section was performed under general anesthesia using remifentanil. Anesthesia was induced and maintained with remifentanil (0.1-0.3 μg x kg(-1) x min(-1)) and continuous administration of propofol (target-controlled infusion, 2-3 ng x ml(-1)). The trachea was intubated without a significant hemodynamic change. The patient's systolic blood pressure was maintained between 90 and 120 mmHg during surgery. Intraoperatively, we conducted a transesophageal echocardiography examination, and no remarkable change was seen in the severity of mitral regurgitation and the size of an ascending aorta. An infant was delivered 6 minutes after anesthesia induction. The Apgar scores were 4 at 1 min, 5 at 5 min and 8 at 10 min. Postoperative course was uneventful. We conclude that remifentanil can be used successfully to manage cesarean section of a parturient with Marfan syndrome associated with heart failure due to severe mitral regurgitation under general anesthesia. PMID:27319100

  18. Quantitative differences in biosynthesis and extracellular deposition of fibrillin in cultured fibroblasts distinguish five groups of Marfan syndrome patients and suggest distinct pathogenetic mechanisms.

    PubMed Central

    Aoyama, T; Francke, U; Dietz, H C; Furthmayr, H

    1994-01-01

    Pulse-chase studies of [35S]cysteine-labeled fibrillin were performed on fibroblast strains from 55 patients with Marfan syndrome (MFS), including 13 with identified mutations in the fibrillin-1 gene and 10 controls. Quantitation of the soluble intracellular and insoluble extracellular fibrillin allowed discrimination of five groups. Groups I (n = 8) and II (n = 19) synthesize reduced amounts of normal-sized fibrillin, while synthesis is normal in groups III (n = 6), IV (n = 18), and V (n = 4). When extracellular fibrillin deposition is measured, groups I and III deposit between 35 and 70% of control values, groups II and IV < 35%, and group V > 70%. A deletion mutant with a low transcript level from the mutant allele and seven additional patients have the group I protein phenotype. Disease in these patients is caused by a reduction in microfibrils associated with either a null allele, an unstable transcript, or an altered fibrillin product synthesized in low amounts. In 68% of the MFS individuals (groups II and IV), a dominant negative effect is invoked as the main pathogenetic mechanism. Products made by the mutant allele in these fibroblasts are proposed to interfere with microfibril formation. Insertion, deletion, and exon skipping mutations, resulting in smaller fibrillin products, exhibit the group II phenotype. A truncated form of fibrillin of 60 kD was identified with specific fibrillin antibodies in one of the group II cell culture media. Seven of the nine known missense mutations, giving rise to abnormal, but normal-sized fibrillin molecules, are in group IV. Images PMID:8040255

  19. Expression of FBN1 during adipogenesis: Relevance to the lipodystrophy phenotype in Marfan syndrome and related conditions.

    PubMed

    Davis, Margaret R; Arner, Erik; Duffy, Cairnan R E; De Sousa, Paul A; Dahlman, Ingrid; Arner, Peter; Summers, Kim M

    2016-09-01

    Fibrillin-1 is a large glycoprotein encoded by the FBN1 gene in humans. It provides strength and elasticity to connective tissues and is involved in regulating the bioavailability of the growth factor TGFβ. Mutations in FBN1 may be associated with depleted or abnormal adipose tissue, seen in some patients with Marfan syndrome and lipodystrophies. As this lack of adipose tissue does not result in high morbidity or mortality, it is generally under-appreciated, but is a cause of psychosocial problems particularly to young patients. We examined the role of fibrillin-1 in adipogenesis. In inbred mouse strains we found significant variation in the level of expression in the Fbn1 gene that correlated with variation in several measures of body fat, suggesting that mouse fibrillin-1 is associated with the level of fat tissue. Furthermore, we found that FBN1 mRNA was up-regulated in the adipose tissue of obese women compared to non-obese, and associated with an increase in adipocyte size. We used human mesenchymal stem cells differentiated in culture to adipocytes to show that fibrillin-1 declines after the initiation of differentiation. Gene expression results from a similar experiment (available through the FANTOM5 project) revealed that the decline in fibrillin-1 protein was paralleled by a decline in FBN1 mRNA. Examination of the FBN1 gene showed that the region commonly affected in FBN1-associated lipodystrophy is highly conserved both across the three human fibrillin genes and across genes encoding fibrillin-1 in vertebrates. These results suggest that fibrillin-1 is involved as the undifferentiated mesenchymal stem cells transition to adipogenesis but then declines as the developing adipocytes take on their final phenotype. Since the C-terminal peptide of fibrillin-1 is a glucogenic hormone, individuals with low fibrillin-1 (for example with FBN1 mutations associated with lipodystrophy) may fail to differentiate adipocytes and/or to accumulate adipocyte lipids

  20. Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions

    PubMed Central

    Korkko, J; Kaitila, I; Lonnqvist, L; Peltonen, L; Ala-Kokko, L

    2002-01-01

    Design: Setting up CSGE analysis for the FBN1 gene and testing the method first by screening coded samples from 17 MFS patients with previously detected FBN1 mutations. We then used a test set consisting of 46 coded samples representing MFS, related phenotypes, and controls. Results: Sixteen of the 17 known mutations were detected. Altogether 23 mutations were detected in a test set consisting of 46 coded samples representing MFS, related phenotypes, and controls. Nineteen of the mutations were novel. The mutation was detected in 18 of the 20 MFS patients and in one patient with familial EL, but not in a patient with sporadic MASS syndrome, any of the five sporadic annuloaortic ectasia (AAE) patients, or any of the 15 controls. A FBN1 mutation was detected in four members of a multigeneration family with AAE, however. Conclusions: These results indicate that CSGE is highly sensitive for the detection of mutations in FBN1, and that molecular diagnostics is a useful means of confirming clinical diagnoses of MFS and related disorders. Further careful investigations are needed, however, in order to correlate the interfamilial and intrafamilial clinical variabilities of fibrillinopathies and mutations in FBN1. PMID:11826022

  1. [Survival and complications in remote period of follow-up in patients with Marfan syndrome after correction of aneurism of the ascending aorta and aortic insufficiency].

    PubMed

    Cypiene, R; Grebelis, A; Semeniene, P; Nogiene, G

    2007-01-01

    Patients with Marfan syndrome (n=44) and ascending aorta aneurism combined with aortic insufficiency were followed up for 1 month - 16 years after graft repair of the ascending aorta aneurysm and replacement of aortic valve. Patients were divided into two groups: with dissecting aneurism (n=25) and chronic nondissecting aneurism (n=19). In remote postoperative period 11 patients had 13 complications (2 patients had 2 complications each - graft dysfunction and arterial thromboembolism). Repetitive surgery was carried out in 5 patients after 67.2 +/- 19.4 months because of expansion of dissection to the abdominal aorta, dysfunction of mitral valve prosthesis. In remote period of follow up 15 patients (34.1%) died. Causes of death were graft dysfunction, extension of aortic dissection, myocardial failure. Total survival was 80, 54 and 46% for 1 month, 10 and 15 years, respectively. PMID:18260913

  2. Native Mitral Valve Endocarditis Caused by Neisseria elongata subsp. nitroreducens in a Patient with Marfan Syndrome: First Case in Italy and Review of the Literature

    PubMed Central

    Rossella, Parrinello; Fabio Oreste, Triolo; Renato, Trapani; Emanuele, Grassedonio; Vincenzo, Argano; Giuseppina, Novo; Silvana, Vallone; Teresa, Fasciana; Massimo, Verdecchia; Anna, Giammanco; Massimo, Midiri; Salvatore, Novo

    2016-01-01

    Neisseria elongata (NE) is an aerobic Gram-negative organism that constitutes part of the commensal human normal oropharyngeal flora. Although previously considered not to be pathogenic, it has been recognized as an occasional cause of significant infections in humans. We report here the first case in Italy of infective endocarditis of a native prolapsing mitral valve in a patient with Marfan syndrome, caused by NE subspecies nitroreducens which has been rarely isolated from clinical specimens. The culprit organism has been confirmed by mass spectrometry directly from the positive blood culture, as previously reported. The amplified gene has been deposited in GenBank under accession number KT591873. In spite of the reported aggressive nature of NE, clinical remission was promptly obtained, there being no requirement for surgery. PMID:27803825

  3. Marfan Syndrome (For Teens)

    MedlinePlus

    ... En Español Making a Change – Your Personal Plan Hot Topics Meningitis Choosing Your Mood Prescription Drug Abuse ... in extreme temperatures, such as really cold or hot weather. The key here is to check with ...

  4. Learning about Marfan Syndrome

    MedlinePlus

    ... Links for Patient Care Education All About the Human Genome Project Fact Sheets Genetic Education Resources for Teachers Genomic Careers National DNA Day Online Education Kit Online Genetics Education ... Subjects Research Informed Consent for Genomics Research Intellectual ...

  5. Marfan Syndrome (For Parents)

    MedlinePlus

    ... blow to the chest — things like basketball, football, baseball, gymnastics, weightlifting, and track, to name a few. ... bike riding, swimming, dancing, walking — anything that's low-impact and can be done at a slower pace — ...

  6. Fibrillin-1 mgΔ(lpn) Marfan syndrome mutation associates with preserved proteostasis and bypass of a protein disulfide isomerase-dependent quality checkpoint.

    PubMed

    Meirelles, Thayna; Araujo, Thaís L S; Nolasco, Patrícia; Moretti, Ana I S; Guido, Maria C; Debbas, Victor; Pereira, Lygia V; Laurindo, Francisco R

    2016-02-01

    Fibrillin-1 mutations promote Marfan syndrome (MFS) via complex yet unclear pathways. The roles of endoplasmic reticulum (ER) and the major ER redox chaperone protein disulfide isomerase-A1 in the processing of normal and mutated fibrillin-1 and ensuing protein secretion and/or intracellular retention are unclear. Our results in mouse embryonic fibroblasts bearing the exon-skipping mgΔ(lox-P-neo) (mgΔ(lpn)) mutation, which associates in vivo with MFS and in vitro with disrupted microfibrils, indicate a preserved ER-dependent proteostasis or redox homeostasis. Rather, mutated fibrillin-1 is secreted normally through Golgi-dependent pathways and is not intracellularly retained. Similar results occurred for the C1039G point mutation. In parallel, we provide evidence that PDIA1 physically interacts with fibrillin-1 in the ER. Moreover, siRNA against PDIA1 augmented fibrillin-1 secretion rates in wild-type cells. However, fibrillin-1 with the mgΔ(lpn) mutation bypassed PDI checkpoint delay, while the C1039G mutation did not. This heretofore undisclosed PDIA1-mediated mechanism may be important to control the extracellular availability of function-competent fibrillin-1, an important determinant of disease phenotype. Moreover, our results may reveal a novel, holdase-like, PDI function associated with ER protein quality control.

  7. Endovascular Aneurysm Repair Using a Reverse Chimney Technique in a Patient With Marfan Syndrome and Contained Ruptured Chronic Type B Dissection

    SciTech Connect

    Ketelsen, Dominik; Kalender, Guenay; Heuschmid, Martin; Syha, Roland; Mangold, Stefanie; Claussen, Claus D.; Brechtel, Klaus

    2011-10-15

    We report endovascular thoracic and abdominal aneurysm repair (EVAR) with reverse chimney technique in a patient with contained ruptured type B dissection. EVAR seems feasible as a bailout option in Marfan patients with acute life-threatening disease.

  8. A substitution at a non-glycine position in the triple-helical domain of pro alpha 2(I) collagen chains present in an individual with a variant of the Marfan syndrome.

    PubMed Central

    Phillips, C L; Shrago-Howe, A W; Pinnell, S R; Wenstrup, R J

    1990-01-01

    A substitution for a highly conserved non-glycine residue in the triple-helical domain of the pro alpha 2(I) collagen molecule was found in an individual with a variant of the Marfan syndrome. A single base change resulted in substitution of arginine618 by glutamine at the Y position of a Gly-X-Y repeat, and is responsible for the decreased migration in SDS-polyacrylamide gels of some pro alpha 2(I) chains of type I collagen synthesized by dermal fibroblasts from this individual. Family studies suggest that this substitution was inherited from the individual's father who also produces abnormally migrating pro alpha 2(I) collagen chains and shares some of the abnormal skeletal features. This single base change creates a new Bsu36 I (Sau I, Mst II) restriction site detectable in genomic DNA by Southern blot analysis when probed with a COL1A2 fragment. The analysis of 52 control individuals (103 chromosomes) was negative for the new Bsu36 I site, suggesting that the substitution is not a common polymorphism. Images PMID:1978725

  9. Valve Sparing Aortic Root Replacement in Patients with Marfan Syndrome Enrolled in the National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions

    PubMed Central

    Song, Howard K.; Preiss, Liliana R.; Maslen, Cheryl L.; Kroner, Barbara; Devereux, Richard B.; Roman, Mary J.; Holmes, Kathryn W.; Tolunay, H. Eser; Desvigne-Nickens, Patrice; Asch, Federico M.; Milewski, Rita K.; Bavaria, Joseph; LeMaire, Scott A.

    2016-01-01

    Background The long-term outcomes of aortic valve sparing (AVS) root replacement in Marfan syndrome (MFS) patients remain uncertain. We sought to determine the utilization and outcomes of AVS root replacement in MFS patients enrolled in the Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC). Methods At the time of this analysis, 788 patients with MFS were enrolled in the GenTAC Registry, of whom 288 have undergone aortic root replacement. Patients who have undergone AVS procedures were compared to those who have undergone aortic valve replacing (AVR) procedures. Results AVS root replacement was performed in 43.5% of MFS patients and the frequency of AVS increased over the past 5 years. AVS patients were younger at the time of surgery (31.0 vs. 36.3 years, p=0.006) and more likely to have had elective rather than emergency surgery compared to AVR patients. AVR patients were more likely to have had aortic valve dysfunction and aortic dissection as a primary indication for surgery. After mean follow-up of 6.2 (SD=3.6) years, none of the 87 AVS patients have required reoperation; in contrast, after mean follow up of 10.5 (SD=7.6) years, 11.5% of AVR patients have required aortic root reoperation. Aortic valve function has been durable with 95.8% of AVS patients with aortic insufficiency graded as mild or less. Conclusions AVS root replacement is performed commonly in the MFS population. The durability of the aortic repair and aortic valve function have been excellent to date. These results justify the continued use of the procedure in the elective setting. The GenTAC Registry will be a useful resource to assess the long-term durability of AVS root replacement in the future. PMID:25296451

  10. Failure of Marfan anatomic criteria to predict risk of aortic dissection in Turner syndrome: necessity of specific adjusted risk thresholds†

    PubMed Central

    Maureira, Juan-Pablo; Vanhuyse, Fabrice; Lekehal, Malik; Hubert, Thierry; Vigouroux, Charlène; Mattei, Marie-Françoise; Grandmougin, Daniel; Villemot, Jean-Pierre

    2012-01-01

    Patients with Turner syndrome are prompt to develop spontaneous acute aortic dissection following insidious aortic dilatation, with abnormal cardiovascular anatomy and consequently require specific guidelines for regular surveillance since they represent a subset of high-risk young patients. We report a rare and uncommon case of spontaneous acute aortic dissection in a 48-year old female patient with Turner syndrome who was not apparently eligible for a prophylactic surgery. A CT scan showed a Stanford type A aortic dissection and was urgently referred for surgical management. We operated on the patient under deep hypothermia (18°C) and circulatory arrest with a retrograde cerebroplegia as the primary entry tear was located in the arch. The postoperative course was uneventful and the patient was discharged at the eighth postoperative day. Following description of this case, special attention was paid to determine predisposing risk factors for aortic dissection to be specifically adjusted to TS patients. PMID:22286600

  11. Loss of Endothelial Barrier in Marfan Mice (mgR/mgR) Results in Severe Inflammation after Adenoviral Gene Therapy

    PubMed Central

    Weymann, Alexander; Arif, Rawa; Weber, Antje; Zaradzki, Marcin; Richter, Karsten; Ensminger, Stephan; Robinson, Peter Nicholas; Wagner, Andreas H.; Karck, Matthias; Kallenbach, Klaus

    2016-01-01

    Objectives Marfan syndrome is an autosomal dominant inherited disorder of connective tissue. The vascular complications of Marfan syndrome have the biggest impact on life expectancy. The aorta of Marfan patients reveals degradation of elastin layers caused by increased proteolytic activity of matrix metalloproteinases (MMPs). In this study we performed adenoviral gene transfer of human tissue inhibitor of matrix metalloproteinases-1 (hTIMP-1) in aortic grafts of fibrillin-1 deficient Marfan mice (mgR/mgR) in order to reduce elastolysis. Methods We performed heterotopic infrarenal transplantation of the thoracic aorta in female mice (n = 7 per group). Before implantation, mgR/mgR and wild-type aortas (WT, C57BL/6) were transduced ex vivo with an adenoviral vector coding for human TIMP-1 (Ad.hTIMP-1) or β-galactosidase (Ad.β-Gal). As control mgR/mgR and wild-type aortas received no gene therapy. Thirty days after surgery, overexpression of the transgene was assessed by immunohistochemistry (IHC) and collagen in situ zymography. Histologic staining was performed to investigate inflammation, the neointimal index (NI), and elastin breaks. Endothelial barrier function of native not virus-exposed aortas was evaluated by perfusion of fluorescent albumin and examinations of virus-exposed tissue were performed by transmission electron microscopy (TEM). Results IHC and ISZ revealed sufficient expression of the transgene. Severe cellular inflammation and intima hyperplasia were seen only in adenovirus treated mgR/mgR aortas (Ad.β-Gal, Ad.hTIMP-1 NI: 0.23; 0.43), but not in native and Ad.hTIMP-1 treated WT (NI: 0.01; 0.00). Compared to native mgR/mgR and Ad.hTIMP-1 treated WT aorta, the NI is highly significant greater in Ad.hTIMP-1 transduced mgR/mgR aorta (p = 0.001; p = 0.001). As expected, untreated Marfan grafts showed significant more elastolysis compared to WT (p = 0.001). However, elastolysis in Marfan aortas was not reduced by adenoviral overexpression of hTIMP-1

  12. How Is Marfan Syndrome Treated?

    MedlinePlus

    ... part of your aorta. Surgery may involve: A composite valve graft. For this surgery, part of the ... medicines or followup tests. For example, after a composite valve graft, your doctor will prescribe medicines called ...

  13. How Is Marfan Syndrome Diagnosed?

    MedlinePlus

    ... heart's valves and aorta. Magnetic Resonance Imaging and Computed Tomography Scans Magnetic resonance imaging (MRI) is a test ... create detailed pictures of your organs and tissues. Computed tomography (CT) uses an x-ray machine to take ...

  14. An extra cysteine in one of the non-calcium-binding epidermal growth factor-like motifs of the FBN1 polypeptide is connected to a novel variant of Marfan syndrome.

    PubMed Central

    Ståhl-Hallengren, C; Ukkonen, T; Kainulainen, K; Kristofersson, U; Saxne, T; Tornqvist, K; Peltonen, L

    1994-01-01

    We present here a family with a clinical phenotype resembling Marfan syndrome (MFS), and displaying joint contracture and episodes of knee joint effusions, but lacking the cardiovascular features of the syndrome. The phenotype of this family represents a unique mixture of connective tissue symptoms, some of which are found in classical MFS and some of which are typical of dominant ectopia lentis. Linkage analyses suggested a linkage (LOD score 2.4; theta = 0) between the phenotype of the family and a polymorphic marker in the vicinity of the fibrillin locus on chromosome 15 (FBN1). Furthermore, a novel transition mutation was identified in the FBN1 gene in all the affected members of the family. In contrast to the majority of fibrillin mutations reported so far, this mutation substitutes a cysteine for arginine, producing an extra cysteine in one of the non-calcium-binding EGF-like motifs of the fibrillin polypeptide, most probably disturbing the formation of one of the three disulfide bridges known to be essential for the normal conformation of this motif. Images PMID:8040326

  15. Beals Syndrome

    MedlinePlus

    ... have many of the skeletal (bone) and aortic enlargement problems as people with Marfan syndrome, and treatments ... appearance to the top of the ear Aortic enlargement and/or mitral valve regurgitation (occasionally) People with ...

  16. Current role of endovascular therapy in Marfan patients with previous aortic surgery

    PubMed Central

    Akin, Ibrahim; Kische, Stephan; Rehders, Tim C; Chatterjee, Tushar; Schneider, Henrik; Körber, Thomas; Nienaber, Christoph A; Ince, Hüseyin

    2008-01-01

    The Marfan syndrome is a heritable disorder of the connective tissue which affects the cardiovascular, ocular, and skeletal system. The cardiovascular manifestation with aortic root dilatation, aortic valve regurgitation, and aortic dissection has a prevalence of 60% to 90% and determines the premature death of these patients. Thirty-four percent of the patients with Marfan syndrome will have serious cardiovascular complications requiring surgery in the first 10 years after diagnosis. Before aortic surgery became available, the majority of the patients died by the age of 32 years. Introduction in the aortic surgery techniques caused an increase of the 10 year survival rate up to 97%. The purpose of this article is to give an overview about the feasibility and outcome of stent-graft placement in the descending thoracic aorta in Marfan patients with previous aortic surgery. PMID:18629349

  17. Non-marfan idiopathic medionecrosis (cystic medial necrosis) presenting with multiple visceral artery aneurysms and diffuse connective tissue fragility: Two brothers

    SciTech Connect

    Kubota, Jun; Tsunemura, Mami; Amano, Shigeko; Tokizawa, Shigemi; Oowada, Susumu; Shinkai, Hiroko; Maehara, Yasunobu; Endo, Keigo

    1997-05-15

    Two brothers with multiple visceral artery aneurysms or dilatations and diffuse connective tissue fragility who did not have clinical features of Marfan syndrome are reported. One presented with retroperitoneal hemorrhage during angiography, and idiopathic medionecrosis was proved by resection of the aneurysms. These cases belong to the heterogeneous group of Marfan syndrome. The angiographical features (multiple dilation of visceral arteries) suggests fragility of connective tissue and is predictive of hazards during and after a catheterization and operation.

  18. Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene

    SciTech Connect

    Putnam, E.A.; Cho, M.; Milewicz, D.M.

    1996-03-29

    Marfan syndrome is a dominantly inherited connective tissue disorder with a wide range of phenotypic severity. The condition is the result of mutations in FBN1, a large gene composed of 65 exons encoding the fibrillin-1 protein. While mutations causing classic manifestations of Marfan syndrome have been identified throughout the FBN1 gene, the six previously characterized mutations resulting in the severe, perinatal lethal form of Marfan syndrome have clustered in exons 24-32 of the gene. We screened 8 patients with either neonatal Marfan syndrome or severe cardiovascular complications of Marfan syndrome for mutations in this region of the gene. Using intron-based exon-specific primers, we amplified exons 23-32 from genomic DNAs, screened these fragments by single-stranded conformational polymorphism analysis, and sequenced indicated exons. This analysis documented mutations in exons 25-27 of the FBN1 mutations in 6 of these patients. These results, taken together with previously published FBN1 mutations in this region, further define the phenotype associated with mutations in exons 24-32 of the FBN1 gene, information important for the development of possible diagnostic tests and genetic counseling. 49 refs., 4 figs., 2 tabs.

  19. Loeys-Dietz Syndrome

    MedlinePlus

    ... syndrome is a genetic disorder of the body’s connective tissue. It has some features in common with Marfan ... a mutation, growth and development of the body’s connective tissue and other body systems is disrupted, leading to ...

  20. Questions and Answers about Marfan Syndrome

    MedlinePlus

    ... problems. In some cases, certain valves may leak, creating a "heart murmur," which a doctor can hear with a ... Research Institute Website: http://www.genome.gov NHGRI Genetic and Rare ... Heart Association Website: http://www.americanheart.org For additional ...

  1. Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene.

    PubMed Central

    Dietz, H C; Pyeritz, R E; Puffenberger, E G; Kendzior, R J; Corson, G M; Maslen, C L; Sakai, L Y; Francomano, C A; Cutting, G R

    1992-01-01

    To examine the associations among fibrillin gene mutations, protein function, and Marfan syndrome phenotype, we screened for alterations in the fibrillin coding sequence in patients with a range of manifestations and clinical severity. A cysteine to serine substitution at codon 1409 (C1409S) was identified in an epidermal growth factor (EGF)-like motif from one fibrillin allele which segregates with the disease phenotype through three generations of a family affected with the Marfan syndrome. This alteration was not observed in 60 probands from other families or in 88 unrelated normal individuals. The altered cysteine is completely conserved in all EGF-like motifs identified in fibrillin, and in all proteins that contain this motif. These observations strongly indicate that C1409S is the disease-producing mutation in this family. The phenotype of individuals carrying C1409S varied widely with respect to onset of disease, organ-system involvement, and clinical severity; certain affected adults were unaware of their status before being diagnosed through this investigation. We conclude that fibrillin gene defects cause familial Marfan syndrome, that mutations in the EGF-like motif of the fibrillin gene are not uniformly associated with severe disease, and that fibrillin genotype is not the sole determinant of Marfan phenotype. Images PMID:1569206

  2. Expression of a mutant human fibrillin allele upon a normal human or murine genetic background recapitulates a Marfan cellular phenotype.

    PubMed Central

    Eldadah, Z A; Brenn, T; Furthmayr, H; Dietz, H C

    1995-01-01

    The Marfan syndrome (MFS) is a connective tissue disorder inherited as an autosomal dominant trait and caused by mutations in the gene encoding fibrillin, a 350-kD glycoprotein that multimerizes to form extracellular microfibrils. It has been unclear whether disease results from a relative deficiency of wild-type fibrillin; from a dominant-negative effect, in which mutant fibrillin monomers disrupt the function of the wild-type protein encoded by the normal allele; or from a dynamic and variable interplay between these two pathogenetic mechanisms. We have now addressed this issue in a cell culture system. A mutant fibrillin allele from a patient with severe MFS was expressed in normal human and murine fibroblasts by stable transfection. Immunohistochemical analysis of the resultant cell lines revealed markedly diminished fibrillin deposition and disorganized microfibrillar architecture. Pulse-chase studies demonstrated normal levels of fibrillin synthesis but substantially reduced deposition into the extracellular matrix. These data illustrate that expression of a mutant fibrillin allele, on a background of two normal alleles, is sufficient to disrupt normal microfibrillar assembly and reproduce the MFS cellular phenotype. This underscores the importance of the fibrillin amino-terminus in normal microfibrillar assembly and suggests that expression of the human extreme 5' fibrillin coding sequence may be sufficient, in isolation, to produce an animal model of MFS. Lastly, this substantiation of a dominant-negative effect offers mutant allele knockout as a potential strategy for gene therapy. Images PMID:7860770

  3. XYY syndrome: a 13-year-old boy with tall stature.

    PubMed

    Jo, Won Ha; Jung, Mo Kyung; Kim, Ki Eun; Chae, Hyun Wook; Kim, Duk Hee; Kwon, Ah Reum; Kim, Ho-Seong

    2015-09-01

    When evaluating the underlying causes of tall stature, it is important to differentiate pathologic tall stature from familial tall stature. Various pathologic conditions leading to adult tall stature include excess growth hormone secretion, Marfan syndrome, androgen or estrogen deficiency, testicular feminization, and sex chromosome anomaly, such as Klinefelter syndrome and XYY syndrome. Men with 47,XYY syndrome can exhibit multiple phenotypes. A 13-year-old boy visited the hospital for evaluation of tall stature. The boy had no other physical abnormalities except tall stature. All biochemical and imaging studies were within the normal ranges. He was diagnosed with XYY syndrome in this chromosome study. When evaluating men with tall stature, XYY syndrome should be ruled out.

  4. [Clinical and Genetic Characteristics of Russian Marfan Patients].

    PubMed

    Semyachkina, A N; Adyan, T A; Khabadze, M N; Novikov, P V; Polyakov, A V

    2015-07-01

    The results of direct DNA diagnostics in nine patients with Marfan syndrome, aged from two to 52 years old, and four unhealthy relatives with the same disease from two unrelated families have been presented for the first time in Russia. Eight mutations in the gene FBN1 were revealed. One patient demonstrated a substitution with unknown clinical importance, which was previously described in the SN P database as rsl 12287730 with a frequency of incidence of 0.1%. Out of the eight mutations, two (25%) were previously described, and the other six mutations (75%) were revealed for the first time. These mutations revealed by us were of the following types: three mutations (37.5%) produced a shift in the open reading frame (two deletions and one insertion), three mutations (12.5%) involved a splicing site, and one (12.5%) nonsense mutation was also noted. Our data contradict previous reports that claimed that the majority of mutations in the FBN1 gene represented missense mutations. Such inconsistency could result from a small size of the examined sample or from substitutions that produced alteration in the splicing site (as we have demonstrated here). The distribution of the revealed mutations was uniform along the whole gene. The results of the conducted comparative analysis of genetic and phenotypic indices was in complete agreement with previously reported results. The developed direct method of DNA diagnostics was fully informative, as we managed in all nine examined patients to confirm their clinical diagnosis using a molecular and genetic approach. PMID:26410935

  5. Autosomal dominant Marfan-like connective-tissue disorder with aortic dilation and skeletal anomalies not linked to the fibrillin genes

    PubMed Central

    Boileau, Catherine; Jondeau, Guillaume; Babron, Marie-Claude; Coulon, Monique; Alexandre, Jeanne-Armelle; Sakai, Lynn; Melki, Judith; Delorme, Gabriel; Dubourg, Olivier; Bonaïti-Pellié, Catherine; Bourdarias, Jean-Pierre; Junien, Claudine

    1993-01-01

    We describe a large family with a connective-tissue disorder that exhibits some of the skeletal and cardiovascular features seen in Marfan syndrome. However, none of the 19 affected individuals displayed ocular abnormalities and therefore did not comply with recognized criteria for this disease. These patients could alternatively be diagnosed as MASS (mitral valve, aorta, skeleton, and skin) phenotype patients or represent a distinct clinical entity, i.e., a new autosomal dominant connective-tissue disorder. The fibrillin genes located on chromosomes 15 and 5 are clearly involved in the classic form of Marfan syndrome and a clinically related disorder (congenital contractural arachnodactyly), respectively. To test whether one of these genes was also implicated in this French family, we performed genetic analyses. Blood samples were obtained for 56 family members, and four polymorphic fibrillin gene markers, located on chromosomes 15 (Fibl5) and 5 (Fib5), respectively, were tested. Linkage between the disease allele and the markers of these two genes was excluded with lod scores of –11.39 (for Fibl5) and –13.34 (for Fib5), at θ = .001, indicating that the mutation is at a different locus. This phenotype thus represents a new connective-tissue disorder, overlapping but different from classic Marfan syndrome. PMID:8317497

  6. A Study of Ghiselli's Hobo Syndrome

    ERIC Educational Resources Information Center

    Woo, Sang Eun

    2011-01-01

    This study attempts to clarify conceptual and operational inconsistencies in the literature around "Ghiselli's hobo syndrome." I propose that defining characteristics of hobo syndrome should include both the exhibition of frequent job movement behavior and positive attitudes about such behavior. This definition effectively differentiates the…

  7. Stickler's syndrome: a study of 12 families.

    PubMed Central

    Spallone, A

    1987-01-01

    Stickler's syndrome is a congenital disease of connective tissue with considerable ocular and non-ocular lesions. This study reports 12 pedigrees (10 families and two isolated cases) and evaluates some peculiar ocular aspects not previously reported in the syndrome. Images PMID:3651362

  8. Descending aortic replacement after Nuss for pectus excavatum in a Marfan patient—Case report

    PubMed Central

    Jaroszewski, Dawn; Ewais, MennatAllah; DeValeria, Patrick; Gotway, Michael; Craig Miller, D.

    2016-01-01

    Introduction The Nuss procedure for pectus excavatum (PE) repair has been successfully performed in Marfan syndrome (MFS) patients however there is concern for future risk of aortic dilation/rupture and need for emergent access with support bars in place. Case presentation We present a 45 year-old male with MFS that required descending aortic replacement shortly after modified Nuss repair. Discussion The majority of MFS patients have severe PE and repair with the Nuss procedure is not uncommon. The risk for life threatening aortic dilation, dissection, or rupture in such patients is a concern when utilizing this technique. Our work has been reported in line with the CARE criteria. Conclusion Nuss repair should be considered in MFS patients with technique modifications and careful consideration of future risk of aortic dilation and rupture. PMID:26895112

  9. Pleuropulmonary Blastoma DICER1 Syndrome Study

    Cancer.gov

    Pleuropulmonary blastoma (PPB) is a rare tumor of the lung that affects young children. The PPB DICER1 Syndrome Study ‹an observational clinical research study‹is enrolling children with PPB and their families.

  10. Clinical and linkage study of a large family with simple ectopia lentis linked to FBN1

    SciTech Connect

    Edwards, M.J.; Roberts, J.; Partington, M.W.; Colley, P.W.; Hollway, G.E.; Kozman, H.M.; Mulley, J.C.

    1994-10-15

    Simple ectopia lentis (EL) was studied in a large family, by clinical examination and analysis of linkage to markers in the region of FBN1, the gene for fibrillin which causes Marfan syndrome on chromosome 15. No patient had clinical or echocardiographic evidence of Marfan syndrome, although there was a trend towards relatively longer measurements of height; lower segment; arm span; middle finger, hand, and foot length in the affected members of the family, compared with unaffected sibs of the same sex. Analysis of linkage to intragenic FBN1 markers was inconclusive because they were relatively uninformative. Construction of a multipoint background map from the CEPH reference families identified microsatellite markers linked closely to FBN1 which could demonstrate linkage of EL in this family to the FBN1 region. LINKMAP analysis detected a multipoint lod score of 5.68 at D15S119, a marker approximately 6 cM distal to FBN1, and a multipoint lod score of 5.04 at FBN1. The EL gene in this family is likely to be allelic to Marfan syndrome, and molecular characterization of the FBN1 mutation should now be possible. 25 refs., 6 figs., 2 tabs.

  11. A Family History Study of Asperger Syndrome

    ERIC Educational Resources Information Center

    Ghaziuddin, Mohammad

    2005-01-01

    Asperger syndrome (AS) is a childhood-onset disorder often described as a mild variant of autism. Although classified as a distinct disorder in the DSM-IV, its overlap with autism continues to be a matter of ongoing debate. While the family genetic origins of autism are well established, few studies have investigated this topic in AS using current…

  12. Reye's Syndrome: A Review of Research Studies.

    ERIC Educational Resources Information Center

    Lopez, Thomas P.; And Others

    1982-01-01

    Clinical and pathological studies of Reye's syndrome indicate that symptoms range from influenza-related encephalitis-type disease to cranial pressure, cerebral edema, hemorrhage, and coma. Biochemical research on the blood, ammonia, and the liver is increasing in sophistication, and hopes for future insight into the etiology of Reye's syndrome…

  13. Viewing Social Scenes: A Visual Scan-Path Study Comparing Fragile X Syndrome and Williams Syndrome

    ERIC Educational Resources Information Center

    Williams, Tracey A.; Porter, Melanie A.; Langdon, Robyn

    2013-01-01

    Fragile X syndrome (FXS) and Williams syndrome (WS) are both genetic disorders which present with similar cognitive-behavioral problems, but distinct social phenotypes. Despite these social differences both syndromes display poor social relations which may result from abnormal social processing. This study aimed to manipulate the location of…

  14. Aortic Disease in the Young: Genetic Aneurysm Syndromes, Connective Tissue Disorders, and Familial Aortic Aneurysms and Dissections

    PubMed Central

    Cury, Marcelo; Zeidan, Fernanda; Lobato, Armando C.

    2013-01-01

    There are many genetic syndromes associated with the aortic aneurysmal disease which include Marfan syndrome (MFS), Ehlers-Danlos syndrome (EDS), Loeys-Dietz syndrome (LDS), familial thoracic aortic aneurysms and dissections (TAAD), bicuspid aortic valve disease (BAV), and autosomal dominant polycystic kidney disease (ADPKD). In the absence of familial history and other clinical findings, the proportion of thoracic and abdominal aortic aneurysms and dissections resulting from a genetic predisposition is still unknown. In this study, we propose the review of the current genetic knowledge in the aortic disease, observing, in the results that the causative genes and molecular pathways involved in the pathophysiology of aortic aneurysm disease remain undiscovered and continue to be an area of intensive research. PMID:23401778

  15. Sick sinus syndrome: a family study.

    PubMed

    Rogińska, Natalia; Bieganowska, Katarzyna

    2014-02-01

    A case of related individuals affected by sick sinus syndrome is presented in this study. The clinical and electrocardiographic signs of sinus node dysfunction and the most common causes of this disease are presented. Subsequently, the article includes descriptions of sinus node disease in three related children as well as details of the disease in their relatives. A literature review of the genetics of familial sinus node dysfunction concludes the study.

  16. Diagnostic yield in adults screened at the Marfan outpatient clinic using the 1996 and 2010 Ghent nosologies.

    PubMed

    Aalberts, Jan J J; Thio, Chris H L; Schuurman, Agnes G; van Langen, Irene M; van der Pol, Bert A E; van Tintelen, J Peter; van den Berg, Maarten P

    2012-05-01

    Marfan syndrome (MFS) is diagnosed according to the Ghent nosology, which has recently been revised. In the Netherlands, evaluation for possible MFS is performed in specialized Marfan outpatient clinics. We investigated the diagnostic yield in our clinic and the impact of the 2010 nosology. All adult patients (n = 343) who visited our clinic between 1998 and 2008 were included. We analyzed their reasons for referral, characteristics, and established diagnoses. In addition, we applied the 2010 nosology to all patients and compared the outcomes to those obtained with the 1996 nosology. Diagnoses that were made using the 1996 and the 2010 Ghent nosology included MFS (44/343 vs. 47/343), familial thoracic aortic aneurysm and/or dissection (22/343 vs. 22/343 patients), Loeys-Dietz syndrome (4/343 vs. 4/343 patients), and (familial) mitral valve prolapse (MVPS; 5/343 vs. 28/343 patients). In both nosologies, 77% of MFS patients had an FBN1 mutation. The 2010 nosology led to an increase in the number of diagnoses made: 4 additional cases of MFS were identified (one patient was "lost" who no longer fulfilled the criteria) and 23 additional cases of MVPS were diagnosed. The diagnostic yield of patients with aortic root dilatation was 65% using the 1996 nosology and 70% using the 2010 nosology. The change in diagnoses did not lead to a difference in clinical follow-up. We conclude that the diagnostic yield of our specialized clinic was high, in particular in patients with aortic root dilatation. Further more the 2010 Ghent nosology led to a significant increase in the number of diagnoses made, mainly due to lowering of the diagnostic threshold for MVPS.

  17. When flexibility is not necessarily a virtue: a review of hypermobility syndromes and chronic or recurrent musculoskeletal pain in children.

    PubMed

    Cattalini, Marco; Khubchandani, Raju; Cimaz, Rolando

    2015-01-01

    Chronic or recurrent musculoskeletal pain is a common complaint in children. Among the most common causes for this problem are different conditions associated with hypermobility. Pediatricians and allied professionals should be well aware of the characteristics of the different syndromes associated with hypermobility and facilitate early recognition and appropriate management. In this review we provide information on Benign Joint Hypermobility Syndrome, Ehlers-Danlos Syndrome, Marfan Syndrome, Loeys-Dietz syndrome and Stickler syndrome, and discuss their characteristics and clinical management. PMID:26444669

  18. A study on multiple drowning syndromes.

    PubMed

    Turgut, Adnan

    2012-01-01

    Non-intentional drowning incidents remain a leading cause of mortality in Turkey as well as all over the world. A following related secondary syndrome is composed of those who drown during altruistic attempts to rescue a drowning person. Such 'rescuers' who attempt to rescue a drowning person, may themselves drown, resulting in a tragic multiple death. This study covers the year 2009, and necessary data was found by using internet search engines to identify cases in which a potential rescue attempt resulted with the rescuer's fatal drowning. Thirty-one 'rescuers' and 20 primary drowning victims (PDV) drowned in 28 incidents in which 80% of drowned primary victims (DPV) were children, and 48.4% of the 'rescuers' were children. In 48.4% of the 'rescuers' succeeded in rescuing the PDV's life. Out of them, 38.7% of the 'rescuers' and PDVs were friends/colleagues. The aim of this study is to define and examine multiple drowning syndromes (MDSs) and to suggest preventative measures. An increased awareness of such risks as promotion of swimming and rescue skills could help reducing the MDSs.

  19. Pathways to Language: A Naturalistic Study of Children with Williams Syndrome and Children with Down Syndrome

    ERIC Educational Resources Information Center

    Levy, Yonata; Eilam, Ariela

    2013-01-01

    This is a naturalistic study of the development of language in Hebrew-speaking children with Williams syndrome (WS) and children with Down syndrome (DS), whose MLU extended from 1[multiplied by]0 to 4[multiplied by]4. Developmental curves over the entire span of data collection revealed minor differences between children with WS, children with DS,…

  20. Postperfusion Syndrome in Cadaveric Liver Transplantations: A Retrospective Study

    PubMed Central

    Aydınlı, Bahar; Karadeniz, Ümit; Demir, Aslı; Güçlü, Çiğdem Yıldırım; Kazancı, Dilek; Koçulu, Rabia; Haytural, Candan; Özgök, Ayşegül; Bostancı, Erdal Birol; Zorlu, Ali

    2016-01-01

    Objective To evaluate the factors that affects the postperfusion syndrome in cadaveric liver transplantations and the effect of the postperfusion syndrome on discharge from the hospital. Methods Patients who underwent cadaveric liver transplantations between 2007 and 2013 were scanned retrospectively. Intraoperative anaesthesia records, intensive care unit follow-up forms and discharge reports were examined from patient files. Overall, 43 patients having complete data were included in the study. The postperfusion syndrome is defined as asystoli or a decrease in mean arterial pressure of more than 30%, which occurred in the first 5 min of reperfusion and continued for 1 min. Patients were divided into two groups: those who had the postperfusion syndrome and those who did not. Results The number of patients who had the postperfusion syndrome was 25 of 43 (58.1%). The MELD score of patients without the postperfusion syndrome was calculated as 16.9±3.2 and that of patients with the postperfusion syndrome was 19.7±3.6. A statistically significant relationship was detected between the postperfusion syndrome occurrence and a high MELD score (p=0.013). The diastolic blood pressure just before reperfusion was statistically lower in the group with the postperfusion syndrome than in the other group (p=0.023, 50±8 vs. 58±11). According to the logistic regression analysis, the MELD score and the decrease in diastolic blood pressure before reperfusion were defined as independent predictive factors. Conclusion According to the study, the ratio for having the postperfusion syndrome was found to be 58.1%. The independent predictor factors affecting the postperfusion syndrome were detected as the MELD score and the decrease in diastolic blood pressure before reperfusion. The postperfusion syndrome during orthotropic liver transplantation is an important issue for anaesthesiologists. The awareness of the related factors with the postperfusion syndrome may help in the development

  1. Treacher Collins syndrome: a case study.

    PubMed

    Chung, Jenny Y; Cangialosi, Thomas J; Eisig, Sidney B

    2014-11-01

    Treacher Collins syndrome is a disorder of craniofacial development with high penetrance and variable expressivity. Its incidence is approximately 1 in 50,000 live births. In this article, we describe the orthodontic treatment of an 11-year-old boy with Treacher Collins syndrome.

  2. Functional Insights into Chromatin Remodelling from Studies on CHARGE Syndrome

    PubMed Central

    Basson, M. Albert; van Ravenswaaij-Arts, Conny

    2015-01-01

    CHARGE syndrome is a rare genetic syndrome characterised by a unique combination of multiple organ anomalies. Dominant loss-of-function mutations in the gene encoding chromodomain helicase DNA binding protein 7 (CHD7), which is an ATP-dependent chromatin remodeller, have been identified as the cause of CHARGE syndrome. Here, we review recent work aimed at understanding the mechanism of CHD7 function in normal and pathological states, highlighting results from biochemical and in vivo studies. The emerging picture from this work suggests that the mechanisms by which CHD7 fine-tunes gene expression are context specific, consistent with the pleiotropic nature of CHARGE syndrome. PMID:26411921

  3. Functional Insights into Chromatin Remodelling from Studies on CHARGE Syndrome.

    PubMed

    Basson, M Albert; van Ravenswaaij-Arts, Conny

    2015-10-01

    CHARGE syndrome is a rare genetic syndrome characterised by a unique combination of multiple organ anomalies. Dominant loss-of-function mutations in the gene encoding chromodomain helicase DNA binding protein 7 (CHD7), which is an ATP-dependent chromatin remodeller, have been identified as the cause of CHARGE syndrome. Here, we review recent work aimed at understanding the mechanism of CHD7 function in normal and pathological states, highlighting results from biochemical and in vivo studies. The emerging picture from this work suggests that the mechanisms by which CHD7 fine-tunes gene expression are context specific, consistent with the pleiotropic nature of CHARGE syndrome. PMID:26411921

  4. Case study: Ganser syndrome in children and adolescents.

    PubMed

    Miller, P; Bramble, D; Buxton, N

    1997-01-01

    Six cases of the Ganser syndrome have been previously described in the literature and are reviewed here. They are imperfect representations of the originally described syndrome. This article describes a case of the Ganser syndrome in a 12-year-old boy who, after a mild head injury, presented with three of four of the core symptoms. The nature of the Ganser syndrome remains unclear, but this case study highlights dissociation and abnormal illness behavior as being important in the production of the symptoms. Classically the course is short-lived, although this report raises the possibilities of a much more chronic course. PMID:9000788

  5. Epidemiological study of cauda equina syndrome

    PubMed Central

    Fuso, Fernando Augusto Freitas; Dias, André Luiz Natálio; Letaif, Olavo Biraghi; Cristante, Alexandre Fogaça; Marcon, Raphael Martus; de Barros, Tarcísio Eloy Pessoa

    2013-01-01

    OBJECTIVE : The primary purpose of this study was to determine the characteristics and outcomes of the patients admitted at our clinics diagnosed with cauda equina syndrome (CES). Secondarily, this study will serve as a basis for other comparative studies aiming at a better understanding of this condition and its epidemiology. METHODS : We conducted a retrospective study by reviewing the medical records of patients diagnosed with CES and neurogenic bladder between 2005 and 2011. The following variables were analyzed: gender, age, etiology, topographic level of the lesion, time between disease onset and diagnosis, presence of neurogenic bladder, time between diagnosis and surgery, neurological damage and neurogenic bladder persistence. RESULTS : Considering that CES is a rare condition, we were not able to establish statistic correlation between the analyzed variables and the outcomes of the disease. However, this study brought to light the inadequacy of our public health system in treating that kind of patient. CONCLUSION : The study shows that despite the well-defined basis for managing CES, we noted a greater number of patients with sequels caused by this condition, than is seen in the literature. The delayed diagnosis and, consequently, delayed treatment, were the main causes for the results observed. Level of Evidence IV, Case Series. PMID:24453661

  6. Resveratrol Inhibits Aortic Root Dilatation in the Fbn1C1039G/+ Marfan Mouse Model

    PubMed Central

    Hibender, Stijntje; Franken, Romy; van Roomen, Cindy; ter Braake, Anique; van der Made, Ingeborg; Schermer, Edith E.; Gunst, Quinn; van den Hoff, Maurice J.; Lutgens, Esther; Pinto, Yigal M.; Groenink, Maarten; Zwinderman, Aeilko H.; Mulder, Barbara J.M.; de Vries, Carlie J.M.

    2016-01-01

    Objective— Marfan syndrome (MFS) is a connective tissue disorder caused by mutations in the fibrillin-1 gene. Patients with MFS are at risk of aortic aneurysm formation and dissection. Usually, blood pressure–lowering drugs are used to reduce aortic events; however, this is not sufficient for most patients. In the aorta of smooth muscle cell–specific sirtuin-1–deficient mice, spontaneous aneurysm formation and senescence are observed. Resveratrol is known to enhance sirtuin-1 activity and to reduce senescence, which prompted us to investigate the effectiveness of resveratrol in inhibition of aortic dilatation in the Fbn1C1039G/+ MFS mouse model. Approach and Results— Aortic senescence strongly correlates with aortic root dilatation rate in MFS mice. However, although resveratrol inhibits aortic dilatation, it only shows a trend toward reduced aortic senescence. Resveratrol enhances nuclear localization of sirtuin-1 in the vessel wall and, in contrast to losartan, does not affect leukocyte infiltration nor activation of SMAD2 and extracellular signal–regulated kinases 1/2 (ERK1/2). Interestingly, specific sirtuin-1 activation (SRT1720) or inhibition (sirtinol) in MFS mice does not affect aortic root dilatation rate, although senescence is changed. Resveratrol reduces aortic elastin breaks and decreases micro-RNA-29b expression coinciding with enhanced antiapoptotic Bcl-2 expression and decreased number of terminal apoptotic cells. In cultured smooth muscle cells, the resveratrol effect on micro-RNA-29b downregulation is endothelial cell and nuclear factor κB-dependent. Conclusions— Resveratrol inhibits aortic root dilatation in MFS mice by promoting elastin integrity and smooth muscle cell survival, involving downregulation of the aneurysm-related micro-RNA-29b in the aorta. On the basis of these data, resveratrol holds promise as a novel intervention strategy for patients with MFS. PMID:27283746

  7. Autism Symptoms in Toddlers with Down Syndrome: A Descriptive Study

    ERIC Educational Resources Information Center

    Hepburn, Susan; Philofsky, Amy; Fidler, Deborah J.; Rogers, Sally

    2008-01-01

    Background: Research suggests that children with Down syndrome may be at increased risk of having an autism spectrum disorder; however, previous studies have not utilized comprehensive, state-of-the-art diagnostic tools to address the question of comorbid autism and Down syndrome. Method: Comprehensive evaluations for autism were conducted in 20…

  8. Congenital bilateral perisylvian syndrome: a case study.

    PubMed

    Donders, Jacobus; Mullarkey, Sr Kathryn; Allchin, Joel

    2009-02-01

    We report the case of a 14-year-old boy with bilateral congenital perisylvian syndrome as evidenced by polymicrogyria in the left and right frontotemporal regions, pseudobulbar paresis, seizures, and spastic diplegia. This is the first description of comprehensive neuropsychological assessment in a child with this syndrome. The results reflect significant impairments in auditory processing and independent learning and retention, but relatively preserved cognitive performance on interactive tasks involving frequent feedback and redirection. The findings are interpreted in the context of the neuropathology of this syndrome, with an emphasis on pragmatic implications for rehabilitation. PMID:18618376

  9. Case study: the painful os trigonum syndrome.

    PubMed

    Brown, G P; Feehery, R V; Grant, S M

    1995-07-01

    The painful os trigonum syndrome is one cause of posterolateral ankle pain. This syndrome is most prevalent in athletes who perform frequent and/or forceful plantar flexion. The painful os trigonum may be misdiagnosed as Achilles and/or peroneal tendinitis. In this case, the patient was misdiagnosed for 15 months and treated for tendinitis. The appropriate clinical tests to evaluate the os trigonum as a source of posterolateral ankle pain are outlined. The surgical and postoperative management for the patient are discussed. Clinicians should be aware of the painful os trigonum syndrome as a possible source of posterolateral ankle pain.

  10. Asian Motility Studies in Irritable Bowel Syndrome

    PubMed Central

    2010-01-01

    Altered motility remains one of the important pathophysiologic factors in patients with irritable bowel syndrome (IBS) who commonly complain of abdominal pain and stool changes such as diarrhea and constipation. The prevalence of IBS has increased among Asian populations these days. Gastrointestinal (GI) physiology may vary between Asian and Western populations because of differences in diets, socio-cultural backgrounds, and genetic factors. The characteristics and differences of GI dysmotility in Asian IBS patients were reviewed. MEDLINE search work was performed including following terms, 'IBS,' 'motility,' 'transit time,' 'esophageal motility,' 'gastric motility,' 'small intestinal motility,' 'colonic motility,' 'anorectal function,' and 'gallbladder motility' and over 100 articles were categorized under 'esophagus,' 'stomach,' 'small intestine,' 'colon,' 'anorectum,' 'gallbladder,' 'transit,' 'motor pattern,' and 'effect of stressors.' Delayed gastric emptying, slow tansit in constipation predominant IBS patients, rapid transit in diarrhea predominant IBS patients, accelerated motility responses to various stressors such as meals, mental stress, or corticotrophin releasing hormones, and altered rectal compliance and altered rectal accomodation were reported in many Asian studies regarding IBS. Many conflicting results were found among these studies and there are still controversies to conclude these as unique features of Asian IBS patients. Multinational and multicenter studies are needed to be performed vigorously in order to elaborate characteristics as well as differences of altered motililty in Asian patients with IBS. PMID:20535342

  11. Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections

    PubMed Central

    Bertoli-Avella, Aida M.; Gillis, Elisabeth; Morisaki, Hiroko; Verhagen, Judith M.A.; de Graaf, Bianca M.; van de Beek, Gerarda; Gallo, Elena; Kruithof, Boudewijn P.T.; Venselaar, Hanka; Myers, Loretha A.; Laga, Steven; Doyle, Alexander J.; Oswald, Gretchen; van Cappellen, Gert W.A.; Yamanaka, Itaru; van der Helm, Robert M.; Beverloo, Berna; de Klein, Annelies; Pardo, Luba; Lammens, Martin; Evers, Christina; Devriendt, Koenraad; Dumoulein, Michiel; Timmermans, Janneke; Bruggenwirth, Hennie T.; Verheijen, Frans; Rodrigus, Inez; Baynam, Gareth; Kempers, Marlies; Saenen, Johan; Van Craenenbroeck, Emeline M.; Minatoya, Kenji; Matsukawa, Ritsu; Tsukube, Takuro; Kubo, Noriaki; Hofstra, Robert; Goumans, Marie Jose; Bekkers, Jos A.; Roos-Hesselink, Jolien W.; van de Laar, Ingrid M.B.H.; Dietz, Harry C.; Van Laer, Lut; Morisaki, Takayuki; Wessels, Marja W.; Loeys, Bart L.

    2015-01-01

    Background Aneurysms affecting the aorta are a common condition associated with high mortality as a result of aortic dissection or rupture. Investigations of the pathogenic mechanisms involved in syndromic types of thoracic aortic aneurysms, such as Marfan and Loeys-Dietz syndromes, have revealed an important contribution of disturbed transforming growth factor (TGF)-β signaling. Objectives This study sought to discover a novel gene causing syndromic aortic aneurysms in order to unravel the underlying pathogenesis. Methods We combined genome-wide linkage analysis, exome sequencing, and candidate gene Sanger sequencing in a total of 470 index cases with thoracic aortic aneurysms. Extensive cardiological examination, including physical examination, electrocardiography, and transthoracic echocardiography was performed. In adults, imaging of the entire aorta using computed tomography or magnetic resonance imaging was done. Results Here, we report on 43 patients from 11 families with syndromic presentations of aortic aneurysms caused by TGFB3 mutations. We demonstrate that TGFB3 mutations are associated with significant cardiovascular involvement, including thoracic/abdominal aortic aneurysm and dissection, and mitral valve disease. Other systemic features overlap clinically with Loeys-Dietz, Shprintzen-Goldberg, and Marfan syndromes, including cleft palate, bifid uvula, skeletal overgrowth, cervical spine instability and clubfoot deformity. In line with previous observations in aortic wall tissues of patients with mutations in effectors of TGF-β signaling (TGFBR1/2, SMAD3, and TGFB2), we confirm a paradoxical up-regulation of both canonical and noncanonical TGF-β signaling in association with up-regulation of the expression of TGF-β ligands. Conclusions Our findings emphasize the broad clinical variability associated with TGFB3 mutations and highlight the importance of early recognition of the disease because of high cardiovascular risk. PMID:25835445

  12. Candidate gene association studies in syndromic and non-syndromic cleft lip and palate

    SciTech Connect

    Daack-Hirsch, S.; Basart, A.; Frischmeyer, P.

    1994-09-01

    Using ongoing case ascertainment through a birth defects registry, we have collected 219 nuclear families with non-syndromic cleft lip and/or palate and 111 families with a collection of syndromic forms. Syndromic cases include 24 with recognized forms and 72 with unrecognized syndromes. Candidate gene studies as well as genome-wide searches for evidence of microdeletions and isodisomy are currently being carried out. Candidate gene association studies, to date, have made use of PCR-based polymorphisms for TGFA, MSX1, CLPG13 (a CA repeat associated with a human homologue of a locus that results in craniofacial dysmorphogenesis in the mouse) and an STRP found in a Van der Woude syndrome microdeletion. Control tetranucleotide repeats, which insure that population-based differences are not responsible for any observed associations, are also tested. Studies of the syndromic cases have included the same list of candidate genes searching for evidence of microdeletions and a genome-wide search using tri- and tetranucleotide polymorphic markers to search for isodisomy or structural rearrangements. Significant associations have previously been identified for TGFA, and, in this report, identified for MSX1 and nonsyndromic cleft palate only (p = 0.04, uncorrected). Preliminary results of the genome-wide scan for isodisomy has returned no true positives and there has been no evidence for microdeletion cases.

  13. Math Learning Disability and Math LD Subtypes: Evidence from Studies of Turner Syndrome, Fragile X Syndrome, and Neurofibromatosis Type 1.

    ERIC Educational Resources Information Center

    Mazzocco, Michele M. M.

    2001-01-01

    This study examined whether indicators of math learning disability were observed in 35 5- and 6-year-olds with either neurofibromatosis, Turner Syndrome, or fragile X syndrome and compared to controls. Findings indicate that girls with fragile X or Turner syndrome but not neurofibromatosis are significantly more likely to have specific math…

  14. Connective tissue, Ehlers-Danlos syndrome(s), and head and cervical pain.

    PubMed

    Castori, Marco; Morlino, Silvia; Ghibellini, Giulia; Celletti, Claudia; Camerota, Filippo; Grammatico, Paola

    2015-03-01

    Ehlers-Danlos syndrome (EDS) is an umbrella term for a growing group of hereditary disorders of the connective tissue mainly manifesting with generalized joint hypermobility, skin hyperextensibility, and vascular and internal organ fragility. In contrast with other well known heritable connective tissue disorders with severe cardiovascular involvement (e.g., Marfan syndrome), most EDS patients share a nearly normal life span, but are severely limited by disabling features, such as pain, fatigue and headache. In this work, pertinent literature is reviewed with focus on prevalence, features and possible pathogenic mechanisms of headache in EDSs. Gathered data are fragmented and generally have a low level of evidence. Headache is reported in no less than 1/3 of the patients. Migraine results the most common type in the hypermobility type of EDS. Other possibly related headache disorders include tension-type headache, new daily persistent headache, headache attributed to spontaneous cerebrospinal fluid leakage, headache secondary to Chiari malformation, cervicogenic headache and neck-tongue syndrome, whose association still lacks of reliable prevalence studies. The underlying pathogenesis seems complex and variably associated with cardiovascular dysautonomia, cervical spine and temporomandibular joint instability/dysfunction, meningeal fragility, poor sleep quality, pain-killer drugs overuse and central sensitization. Particular attention is posed on a presumed subclinical cervical spine dysfunction. Standard treatment is always symptomatic and usually unsuccessful. Assessment and management procedures are discussed in order to put some basis for ameliorating the actual patients' needs and nurturing future research. PMID:25655119

  15. Minimally Invasive Mitral Valve Repair in a Marfan Patient with Severe Scoliokyphosis

    PubMed Central

    Noack, Thilo; Lehmkuhl, Lukas; Seeburger, Joerg; Mohr, Friedrich Wilhelm

    2014-01-01

    A 26-year-old female Marfan patient with extensive scoliokyphosis presented with severe mitral valve regurgitation. The patient was treated with minimally invasive mitral valve repair via a right lateral minithoracotomy. In this report, we discuss the operative procedure followed in this special case and the current literature. PMID:25798347

  16. Joint hypermobility syndrome pain.

    PubMed

    Grahame, Rodney

    2009-12-01

    Joint hypermobility syndrome (JHS) was initially defined as the occurrence of musculoskeletal symptoms in the presence of joint laxity and hypermobility in otherwise healthy individuals. It is now perceived as a commonly overlooked, underdiagnosed, multifaceted, and multisystemic heritable disorder of connective tissue (HDCT), which shares many of the phenotypic features of other HDCTs such as Marfan syndrome and Ehlers-Danlos syndrome. Whereas the additional flexibility can confer benefits in terms of mobility and agility, adverse effects of tissue laxity and fragility can give rise to clinical consequences that resonate far beyond the confines of the musculoskeletal system. There is hardly a clinical specialty to be found that is not touched in one way or another by JHS. Over the past decade, it has become evident that of all the complications that may arise in JHS, chronic pain is arguably the most menacing and difficult to treat. PMID:19889283

  17. Cornelia de Lange syndrome: a case study.

    PubMed

    Kalal, Goud Iravathy; Raina, Vimarsh P; Nayak, Veerabhadra S; Teotia, Pooja; Gupta, Bhushan V

    2009-02-01

    Cornelia de Lange syndrome (CDLS) is a relatively common multiple congenital anomaly/mental retardation disorder with an unknown genetic and molecular pathogenesis. The essential features of this developmental malformation syndrome are retardation in growth, developmental delay, various structural limb abnormalities, and distinctive facial features. Most cases are sporadic and are thought to result from a new dominant mutation. Consequently, hypotheses regarding the pathogenetic mechanisms underlying the two distinct phenotypes, classic and mild, are purely speculative. The recent discovery of molecular techniques and identification of the NIPBL gene has allowed etiologic diagnosis of this disorder. In this article, we describe a patient with CDLS in whom conventional cytogenetics, fluorescence in situ hybridization, and NIPBL gene mutation analysis determined an etiologic diagnosis, providing precise genetic counseling and facilitated the family to make an evidence-based decision for conception and also alleviated the extreme degree of anxiety associated with the thought of having a second child in this set of circumstances. PMID:19309268

  18. Delirium superimposed on Charles Bonnet syndrome: a case study.

    PubMed

    Yeager, Jennifer J

    2013-01-01

    Older adults with visual impairment may experience visual hallucinations in the setting of normal cognition and absence of psychiatric illness. This phenomenon is referred to as Charles Bonnet syndrome. Information concerning Charles Bonnet syndrome predominantly comes from case studies. Reassuring the person experiencing the hallucinations they are not suffering from psychosis constitutes the mainstay of treatment. What follows is the case of a vision impaired, older adult male with known Charles Bonnet syndrome, who, following emergency surgery and associated delirium while in the intensive care unit, experiences an aggressive change in hallucinations. Nurses need to understand the pathology and characteristics of Charles Bonnet syndrome in order to distinguish it from other pathologies underlying hallucinations. This knowledge is necessary to provide safe, patient-centered care for older adults.

  19. Viewing social scenes: a visual scan-path study comparing fragile X syndrome and Williams syndrome.

    PubMed

    Williams, Tracey A; Porter, Melanie A; Langdon, Robyn

    2013-08-01

    Fragile X syndrome (FXS) and Williams syndrome (WS) are both genetic disorders which present with similar cognitive-behavioral problems, but distinct social phenotypes. Despite these social differences both syndromes display poor social relations which may result from abnormal social processing. This study aimed to manipulate the location of socially salient information within scenes to investigate the visual attentional mechanisms of: capture, disengagement, and/or general engagement. Findings revealed that individuals with FXS avoid social information presented centrally, at least initially. The WS findings, on the other hand, provided some evidence that difficulties with attentional disengagement, rather than attentional capture, may play a role in the WS social phenotype. These findings are discussed in relation to the distinct social phenotypes of these two disorders.

  20. [Clinical studies of pediatric malabsorption syndromes].

    PubMed

    Hosoyamada, Takashi

    2006-11-01

    Multiple cases with various types of pediatric malabsorption syndromes were evaluated. The clinical manifestations, laboratory findings, pathophysiology, and histopathological descriptions of each patient were analyzed in an effort to clear the pathogenesis of the malabsorption syndromes and the treatments were undertaken. The cases studied, included one patient with cystic fibrosis, two with lactose intolerance with lactosuria (Durand type), one with primary intestinal lymphangiectasia, two with familial hypobetalipoproteinemia, one with Hartnup disease, one with congenital chroride diarrhea, one with acrodermatitis enteropathica, one with intestinal nodular lymphoid hyperplasia (NLH), five with intractable diarrhea of early infancy and four with glycogenosis type Ia. Each case description and outcome is described below: 1. A 15-year-old Japanese boy with cystic fibrosis presented with severe symptoms, including pancreatic insufficiency, bronchiectasis, pneumothorax and hemoptysis. His prognosis was poor. Analysis of the CFTR genes of this patient revealed a homozygous large deletion from intron 16 to 17b. 2. In the sibling case of Durand type lactose intolerance, the subjects'disaccaridase activity of the small bowel, including lactase, were within normal limits. The results of per oral and per intraduodenal lactose tolerance tests confirmed lactosuria in both. These observations suggested, not only an abnormal gastric condition, but also duodenal and intestinal mucosal abnormal permeability of lactose. 3. In the case of primary intestinal lymphangiectasia, the subject had a lymphedematous right arm and hand, a grossly coarsened mucosal pattern of the upper gastrointestinal tract (identified via radiologic examination) and the presence of lymphangiectasia (confirmed via duodenal mucosal biopsy). The major laboratory findings were hypoalbuminemia, decreased immunoglobulin levels and lymphopenia resulting from loss of lymph fluid and protein into the gastro

  1. Clinical study of 39 patients with atypical lacunar syndrome.

    PubMed

    Arboix, A; López-Grau, M; Casasnovas, C; García-Eroles, L; Massons, J; Balcells, M

    2006-03-01

    The aim of this study was to describe the clinical characteristics of atypical lacunar syndrome (ALS) based on data collected from a prospective acute stroke registry. In total, 2500 acute stroke patients were included in a hospital based prospective stroke registry over a 12 year period, of whom 39 were identified as having ALS and radiologically proven (by computed tomography or magnetic resonance imaging) lacunes. ALS accounted for 1.8% of all acute stroke patients, 2.1% of acute ischaemic stroke, and 6.8% of lacunar syndromes. ALS included dysarthria facial paresis (n = 12) or isolate dysarthria (n = 9), isolated hemiataxia (n = 4), pure motor hemiparesis with transient internuclear ophthalmoplegia (n = 4), pure motor hemiparesis with transient subcortical aphasia (n = 3), unilateral (n = 2) or bilateral (n = 3) paramedian thalamic infarct syndrome, and hemichorea hemiballismus (n = 2). Atypical lacunar syndromes were due to small vessel disease in 96% of patients. Atherothrombotic infarction occurred in one patient and cardioembolic infarct in another, both presenting pure dysarthria. Outcome was good (in hospital mortality 0%, symptom free at discharge 28.2%). After multivariate analysis, the variables of speech disturbances, nausea/vomiting, ischaemic heart disease, and sensory symptoms were found to be significantly associated with ALS. In conclusion, atypical lacunar syndrome is an infrequent stroke subtype (one of each 14 lacunar strokes). ALS occurred in 6.8% of lacunar strokes. Isolated dysarthria or dysarthria facial paresis were the most frequent presenting forms. The prognosis of this infrequent non-classic lacunar syndrome is good.

  2. Meige syndrome: double-blind crossover study of sodium valproate.

    PubMed Central

    Snoek, J W; van Weerden, T W; Teelken, A W; van den Burg, W; Lakke, J P

    1987-01-01

    A double-blind crossover study of sodium valproate and placebo was conducted in five patients with Meige syndrome. CSF neurotransmitter studies were performed at the end of each treatment period. GABA levels were not influenced by the administration of sodium valproate. An increase in HVA levels was observed in every patient, which may reflect an increase in central dopaminergic activity. This finding may explain the trend towards clinical deterioration which was observed during treatment with sodium valproate. Sodium valproate appears to be ineffective in Meige syndrome. PMID:3121795

  3. Asperger Syndrome and Schizophrenia: A Comparative Neuropsychological Study

    ERIC Educational Resources Information Center

    Marinopoulou, Maria; Lugnegård, Tove; Unenge Hallerbäck, Maria; Gillberg, Christopher; Billstedt, Eva

    2016-01-01

    There has been an increasing interest in possible connections between autism spectrum disorder (ASD) and schizophrenia in the last decade. Neuropsychological comparison studies have, however, been few. The present study examined similarities and differences in intellectual and executive functioning between adults with Asperger syndrome (AS) and…

  4. Velo-Cardio-Facial Syndrome: 30 Years of Study

    ERIC Educational Resources Information Center

    Shprintzen, Robert J.

    2008-01-01

    Velo-cardio-facial syndrome is one of the names that has been attached to one of the most common multiple anomaly syndromes in humans. The labels DiGeorge sequence, 22q11 deletion syndrome, conotruncal anomalies face syndrome, CATCH 22, and Sedlackova syndrome have all been attached to the same disorder. Velo-cardio-facial syndrome has an…

  5. Prenatal Maternal Smoking and Tourette Syndrome: A Nationwide Register Study.

    PubMed

    Leivonen, Susanna; Chudal, Roshan; Joelsson, Petteri; Ekblad, Mikael; Suominen, Auli; Brown, Alan S; Gissler, Mika; Voutilainen, Arja; Sourander, Andre

    2016-02-01

    This is the first nationwide register-based study to examine the relationship between prenatal maternal smoking and Tourette syndrome. A total of 767 children diagnosed with Tourette syndrome were identified from the Finnish Hospital Discharge Register. Each case was matched to four controls. Information on maternal smoking during pregnancy was obtained from the Finnish Medical Birth Register. Conditional logistic regression models were used for statistical analyses. Prenatal maternal smoking was associated with Tourette syndrome when comorbid with ADHD (OR 4.0, 95 % CI 1.2-13.5, p = 0.027 for exposure during first trimester, OR 1.7, 95 % CI, 1.05-2.7, p = 0.031 for exposure for the whole pregnancy). There was no association between maternal smoking during pregnancy and Tourette syndrome without comorbid ADHD (OR 0.5, 95 % CI 0.2-1.3, p = 0.166, OR 0.9, 95 % CI 0.7-1.3, p = 0.567). Further research is needed to elucidate the mechanisms behind the association between prenatal maternal smoking and Tourette syndrome with comorbid ADHD.

  6. Exploratory Study of Childbearing Experiences of Women With Asperger Syndrome.

    PubMed

    Gardner, Marcia; Suplee, Patricia D; Bloch, Joan; Lecks, Karen

    2016-01-01

    Increasing numbers of girls have been diagnosed with Asperger syndrome and other autism spectrum disorders (ASDs) over the past two decades; therefore, more women with ASDs are entering the childbearing phase of their lives. Little is known about the childbearing experiences of women with ASDs. This qualitative study describes the childbearing experiences of eight women with Asperger syndrome. Four major themes emerged: Processing Sensations, Needing to Have Control, Walking in the Dark, and Motherhood on My Own Terms. Clinicians can provide sensitive, individualized care by asking women with Asperger syndrome about their specific sensory experiences, counseling them about coping strategies for sensory intrusions, providing targeted support, and modifying the clinical environment to decrease distressing stimuli.

  7. Exploratory Study of Childbearing Experiences of Women With Asperger Syndrome.

    PubMed

    Gardner, Marcia; Suplee, Patricia D; Bloch, Joan; Lecks, Karen

    2016-01-01

    Increasing numbers of girls have been diagnosed with Asperger syndrome and other autism spectrum disorders (ASDs) over the past two decades; therefore, more women with ASDs are entering the childbearing phase of their lives. Little is known about the childbearing experiences of women with ASDs. This qualitative study describes the childbearing experiences of eight women with Asperger syndrome. Four major themes emerged: Processing Sensations, Needing to Have Control, Walking in the Dark, and Motherhood on My Own Terms. Clinicians can provide sensitive, individualized care by asking women with Asperger syndrome about their specific sensory experiences, counseling them about coping strategies for sensory intrusions, providing targeted support, and modifying the clinical environment to decrease distressing stimuli. PMID:26902438

  8. Ocular lateropulsion in Wallenberg's syndrome: a prospective clinical study.

    PubMed

    Crevits, L; vander Eecken, H

    1982-03-01

    In order to evaluate the occurrence and clinical value of ocular lateropulsion in Wallenberg's syndrome, a prospective study was carried out. Lateropulsion of the horizontal and vertical refixation saccades was a rather regular finding, especially in complete Wallenberg's syndrome. Lateral ocular deviation after elimination of fixation was present in nearly all cases. The tonic lateral vector was always directed to the involved side. It is concluded that ocular lateropulsion is an easily elicited sign with a lateralizing value in lateral bulbar infarction. Further systematic search of ocular lateropulsion in other posterior fossa disorders is needed to determine its topographical significance.

  9. Munchausen Syndrome by Proxy: A Study of Psychopathology.

    ERIC Educational Resources Information Center

    Bools, Christopher; And Others

    1994-01-01

    This study evaluated 100 mothers with Munchausen Syndrome by Proxy (the fabrication of illness by a mother in her child). Approximately half of the mothers had either smothered or poisoned their child as part of their fabrications. Lifetime psychiatric histories were reported for 47 of the mothers. The most notable psychopathology was personality…

  10. Consonants in Cri du Chat Syndrome: A Case Study

    ERIC Educational Resources Information Center

    Kristoffersen, Kristian Emil

    2008-01-01

    This article reports on a longitudinal case study of consonant productions in one Norwegian girl with Cri du chat syndrome from age 4;6 to age 9;4. It was shown that she had many articulation errors throughout the period of observation. Furthermore, these errors were shown to fall into three main categories: (1) errors of differentiation and…

  11. Savant Syndrome: Case Studies, Hypotheses, and Implications for Special Education.

    ERIC Educational Resources Information Center

    Cheatham, Susan Klug; And Others

    1995-01-01

    The concept of savant syndrome, encompassing those individuals historically known as "idiot savants," is reviewed. Case studies demonstrating special abilities in the areas of calendar calculating, musical ability, artistic talent, memorization, mathematical skills, mechanical achievement, and fine sensory discrimination are discussed, as well as…

  12. Wayfinding Behaviour in Down Syndrome: A Study with Virtual Environments

    ERIC Educational Resources Information Center

    Courbois, Yannick; Farran, Emily K.; Lemahieu, Axelle; Blades, Mark; Mengue-Topio, Hursula; Sockeel, Pascal

    2013-01-01

    The aim of this study was to assess wayfinding abilities in individuals with Down syndrome (DS). The ability to learn routes though a virtual environment (VE) and to make a novel shortcut between two locations was assessed in individuals with DS (N = 10) and control participants individually matched on mental age (MA) or chronological age (CA).…

  13. Functional Communication Training in Rett Syndrome: A Preliminary Study

    ERIC Educational Resources Information Center

    Byiers, Breanne J.; Dimian, Adele; Symons, Frank J.

    2014-01-01

    Rett syndrome (RTT) is associated with a range of serious neurodevelopmental consequences including severe communicative impairments. Currently, no evidence-based communication interventions exist for the population (Sigafoos et al., 2009). The purpose of the current study was to examine the effectiveness of functional assessment (FA) and…

  14. Transurethral resection syndrome in elderly patients: a retrospective observational study

    PubMed Central

    2014-01-01

    Background Transurethral resection of the prostate (TURP) involves the risk of transurethral resection (TUR) syndrome owing to hyponatremia. Irrigation fluid type, duration of operation, and weight of resected mass have been evaluated as risk factors for TUR syndrome. The purpose of the present study was to identify risk factors related to TUR syndrome in the elderly. Methods After obtaining approval from the Institutional Review Board, data on all elderly males (aged 70 years and older) who underwent TURP under regional anesthesia over a 6-year period at our institution were retrospectively reviewed. TUR syndrome was defined as evidence of a central nervous system disturbance such as nausea, vomiting, restlessness, confusion, or even coma with a circulatory abnormality both intra- and post-operatively. Patients were divided into two groups, positive and negative, for the occurrence of the syndrome. Data such as previous medical history, preoperative and postoperative serum data, weight of resected mass, duration of operation, irrigation fluid drainage technique, anesthetic technique, operative infusion and transfusion volume, and neurological symptoms were collected. Only observational variables with p < 0.05 on univariate analyses were included in the multivariate logistic regression model to ascertain their independent effects on TUR syndrome. Results Of the 98 patients studied, 23 had TUR syndrome (23.5%, 95% confidence interval [CI] 14.9–32.0%). Multivariate regression analysis revealed that volume of plasma substitute ≥ 500 ml (odds ratio [OR] 14.7, 95% CI 2.9–74.5), continuous irrigation through a suprapubic cystostomy (OR 4.7, 95% CI 1.3–16.7), and weight of resected mass > 45 g (OR 4.1, 95% CI 1.2–14.7) were associated with significantly increased risks for TUR syndrome (Hosmer-Lemeshow test, p = 0.94, accuracy 84.7%). Conclusions These results suggest that the use of a plasma substitute and continuous irrigation through a

  15. Thrombocytopenia-absent radius syndrome: a clinical genetic study

    PubMed Central

    Greenhalgh, K; Howell, R; Bottani, A; Ancliff, P; Brunner, H; Verschuuren-Bemel..., C; Vernon, E; Brown, K; Newbury-Ecob, R

    2002-01-01

    The thrombocytopenia-absent radius (TAR) syndrome is a congenital malformation syndrome characterised by bilateral absence of the radii and a thrombocytopenia. The lower limbs, gastrointestinal, cardiovascular, and other systems may also be involved. Shaw and Oliver in 1959 were the first to describe this condition, but it was Hall et al in 1969 who reported the first major series of patients. Since then most reports have been based on single or small numbers of cases. We report the results of a clinical study looking at the phenotype of 34 patients with TAR syndrome. All cases had a documented thrombocytopenia and bilateral radial aplasia, 47% had lower limb anomalies, 47% cow's milk intolerance, 23% renal anomalies, and 15% cardiac anomalies. Congenital anomalies not previously described in association with TAR syndrome included facial capillary haemangiomata, intracranial vascular malformation, sensorineural hearing loss, and scoliosis. Karyotype analysis, chromosome breakage studies including premature centromeric separation and fluorescence in situ hybridisation studies looking for a deletion of chromosome 22q11 were undertaken. Two abnormal karyotypes were identified. PMID:12471199

  16. De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: two new cases and a clinical review.

    PubMed

    Au, P Y Billie; Racher, Hilary E; Graham, John M; Kramer, Nancy; Lowry, R Brian; Parboosingh, Jillian S; Innes, A Micheil

    2014-03-01

    Shprintzen-Goldberg syndrome (OMIM #182212) is a connective tissue disorder characterized by craniosynostosis, distinctive craniofacial features, skeletal abnormalities, marfanoid body habitus, aortic dilatation, and intellectual disability. Mutations in exon 1 of SKI have recently been identified as being responsible for approximately 90% of reported individuals diagnosed clinically with Shprintzen-Goldberg syndrome. SKI is a known regulator of TGFβ signaling. Therefore, like Marfan syndrome and Loeys-Dietz syndrome, Shprintzen-Goldberg syndrome is likely caused by deregulated TGFβ signals, explaining the considerable phenotypic overlap between these three disorders. We describe two additional patients with exon 1 SKI mutations and review the clinical features and literature of Shprintzen-Goldberg syndrome.

  17. Spontaneous pubertal development in Turner's syndrome. Italian Study Group for Turner's Syndrome.

    PubMed

    Pasquino, A M; Passeri, F; Pucarelli, I; Segni, M; Municchi, G

    1997-06-01

    The incidence of spontaneous puberty in Turner's syndrome is reported to be between 5-10% and, more recently in some series, as high as 20%. In an Italian retrospective multicenter study, of 522 patients older than 12 yr with Turner's syndrome, 84 patients (16, 1%) presented spontaneous pubertal development with menarche that occurred at a chronological age of 13.2 +/- 1.5 yr (mean +/- SD) and a bone age of 12.9 +/- 1.9 yr. Karyotype distribution in the whole group was as follows: 52.1% (272 patients) X-monosomy (45,X), 13.2% (69 patients) mosaicism characterized by X-monosomy and cellular line with no structural abnormalities of the second X, 19.9% (104 patients) mosaicism characterized by X-monosomy and cellular line with structural abnormalities of the second X, and 14.8% (77 patients) structural abnormalities of the second X. Menstrual cycles were still regular in 30 patients at 9.2 +/- 5.0 yr after menarche, 12 developed secondary amenorrhea 1.6 +/- 2.0 yr after menarche, and 19 had irregular menstrual cycles 0.9 +/- 1.8 yr after menarche. As signs of spontaneous puberty developed in 14.0% of X-monosomic patients and in 32.0% of patients with cell lines with more than one X, the presence of the second X seems to have a cardinal influence on the appearance of spontaneous puberty. Spontaneous pregnancy occurred in 3 patients (3.6%). The presence of chromosomal abnormalities and malformations in 2 of 3 pregnancies led us to agree with other investigators in discouraging unassisted pregnancies. Treatment with GH does not seem to exert any influence on either the age of onset or the prevalence of spontaneous pubertal development in Turner's syndrome. The increased percentage of spontaneous menarche is Turner's syndrome reported in the recent literature might be due to increased ascertainment by diligent screening for Turner's syndrome in girls with short stature and mild or no Turner's syndrome stigmata, even though they may be menstruating.

  18. A case study of delayed serotonin syndrome: lessons learned.

    PubMed

    Pearce, Shannon; Ahned, Nasiva; Varas, Grace M

    2009-01-01

    Serotonin syndrome is a potentially life-threatening condition that results from excessive serotonin agonism of the central and peripheral nervous system. Though serotonin syndrome is most often associated with ingestion of more than one serotonergic drug, many other mechanisms have been associated with serotonergic excess. This case study presents a 79-year-old African-American female, an assisted living resident, who presented to the emergency department with altered mental status, acute onset of "chills," reduced appetite, urinary incontinence, and an elevated temperature of 103 degrees F (39.4 degrees C). Extensive initial diagnostic findings were negative for urinary tract infection, systemic infection, pneumonia, myocardial infarction, and stroke. Despite aggressive medical management, including intravenous hydration and broad-spectrum antibiotics, the patient continued to become more confused, agitated, and despondent over the subsequent 24 hours. The initial working diagnosis did not include serotonin syndrome, but once other studies did not reveal an etiology of the symptoms and the patient continued to be delirious, paroxetine was discontinued and all symptoms resolved within 48 hours of last dose. Voluntary reporting, postmarketing surveillance, and implementation of well-designed randomized clinical trials are all mechanisms to gather data on serotonin syndrome. These practices will provide future researchers with needed information to solidify diagnostic criteria, educate health care professionals, and safeguard the public against this preventable and potentially lethal drug-drug interaction. PMID:19275460

  19. [Nephrotic syndrome. What is new since the 1988 study?].

    PubMed

    Seves, M G; Brito, M J; Lamy, S; Luiz, P V; Bastos, G; Faleiro, M; Batista, J; De Sousa, J F

    1998-07-01

    The authors make a retrospective review of 53 new cases of Nephrotic Syndrome followed up in the Nephrology Unit from November 1988 to March 1994, bearing in mind the evaluation of casual changes of the disease standard regarding a previous study of 1988. Epidemiological, clinical, therapeutical and evolutional aspects were studied. Forty-four cases of primary Nephrotic Syndrome (83%) were identified, 61.4% of which behaved as cortico-sensitive, 25% as cortico-dependent, and 13.6% as cortico-resistant; 8 cases (15%) of Nephrotic Syndrome secondary to infection, Systemic Lupus Erythematosus and Amyloidosis, and 1 case of congenital Nephrotic Syndrome (2%). The theory that the high number of cortico-dependent is, probably, related with a higher severity in the relapse diagnosis and/or changes in the children's standard of living is admissible. It was also observed that at present there is a lower number of hospital discharges, related to more careful attitudes adopted regarding the evolution of the disease.

  20. Colonic diverticulitis in adolescents: an index case and associated syndromes.

    PubMed

    Santin, Brian J; Prasad, Vinay; Caniano, Donna A

    2009-10-01

    Diverticular disease of the colon, a common problem among adults, is diagnosed rarely in children. We report an adolescent patient with sigmoid diverticulitis who required operative treatment. Pediatric patients with the complications of diverticula typically have conditions that result in genetic alterations affecting the components of the colonic wall. Our patient had Williams-Beuren syndrome, although Ehlers-Danlos syndrome, Marfan syndrome, and cystic fibrosis may also be associated with colonic diverticula in adolescence. Pediatric patients with these disorders who experience abdominal pain should be evaluated for the presence of colonic diverticular complications. PMID:19711089

  1. The syndromic multiple odontogenic keratocyst in siblings: A familial study

    PubMed Central

    Kalia, Vimal; Kaushal, Nitin; Kalra, Geeta

    2011-01-01

    Purpose: Our aim is to demonstrate the importance of postoperative assessment and highlight the need for a lifetime follow-up of the patient and the siblings in cases of Nevoid Basal Cell Carcinoma Syndrome (NBCCS). Materials and Methods: Three siblings out of which two were of syndromic multiple odontogenic keratocysts, with multiple basal cell nevae were followed-up for manifestations of NBCCS from year 2001 till date. Two of the patients were treated for multiple bilateral odontogenic keratocysts (OKCs). Familial occurrence of the syndromic multiple odontogenic keratocysts was studied. Result: Although NBCCS is associated with multiple OKCs, it does not imply that a patient should have more than one cyst at a given point in time, rather it refers to the lifetime history of the patient. Early diagnosis will often make it possible to use conservative therapies rather than complex treatments. Conclusion: Recognition of the syndrome permits early treatment in other but possibly asymptomatic relatives. Close attention of the family and past medical history and physical examination will alert the clinician to its presence, allowing for appropriate genetic counseling and serial screening for the development of malignancies and other complications besides OKCs. PMID:23483828

  2. Recent Advances and Perspective of Studies on Phlegm Syndrome in Chinese Medicine

    PubMed Central

    Zhang, Zhiguo; Hu, Jingqing

    2016-01-01

    This review paper summarized the current situation of studies on the essence of phlegm syndrome and relation between phlegm syndrome, diseases, and therapeutics based on published English articles. In studies on the essence of phlegm syndrome, omic technologies were used to explore the molecular basis of phlegm syndrome; in studies on relation between phlegm syndrome and diseases, discovery of markers of phlegm syndrome in diseases becomes a hotspot; the distribution of phlegm syndromes in some common chronic diseases was found; in the therapy of phlegm syndrome, two therapeutic models, treatment with CM formula and treatment with a combination of CM formula and Western medicine, were used most frequently. It is certainly that using one omic technology is not able to deal with the complexity of phlegm syndrome and that the use of a combination of multiple omic methods will be a trend in future studies. Meanwhile, for rapidly increasing clinical research quality of phlegm syndrome, a series of agreed criteria, such as syndrome diagnostic criteria and efficacy criteria clinical studies of phlegm syndrome, needed to be established urgently, and there was an urgent need of standardizing syndrome names in English. PMID:26981140

  3. Current studies on myofascial pain syndrome.

    PubMed

    Kuan, Ta-Shen

    2009-10-01

    Recent studies have clarified the nature of myofascial trigger points (MTrPs). In an MTrP region, multiple hyperirritable loci can be found. The sensory components of the MTrP locus are sensitized nociceptors that are responsible for pain, referred pain, and local twitch responses. The motor components are dysfunctional endplates that are responsible for taut band formation as a result of excessive acetylcholine (ACh) leakage. The concentrations of pain- and inflammation-related substances are increased in the MTrP region. It has been hypothesized that excessive ACh release, sarcomere shortening, and release of sensitizing substances are three essential features that relate to one another in a positive feedback cycle. This MTrP circuit is the connection among spinal sensory (dorsal horn) neurons responsible for the MTrP phenomena. Recent studies suggest that measurement of biochemicals associated with pain and inflammation in the MTrP region, the sonographic study of MTrPs, and the magnetic resonance elastography for taut band image are potential tools for the diagnosis of MTrPs. Many methods have been used to treat myofascial pain, including laser therapy, shockwave therapy, and botulinum toxin type A injection. PMID:19728962

  4. Current studies on myofascial pain syndrome.

    PubMed

    Kuan, Ta-Shen

    2009-10-01

    Recent studies have clarified the nature of myofascial trigger points (MTrPs). In an MTrP region, multiple hyperirritable loci can be found. The sensory components of the MTrP locus are sensitized nociceptors that are responsible for pain, referred pain, and local twitch responses. The motor components are dysfunctional endplates that are responsible for taut band formation as a result of excessive acetylcholine (ACh) leakage. The concentrations of pain- and inflammation-related substances are increased in the MTrP region. It has been hypothesized that excessive ACh release, sarcomere shortening, and release of sensitizing substances are three essential features that relate to one another in a positive feedback cycle. This MTrP circuit is the connection among spinal sensory (dorsal horn) neurons responsible for the MTrP phenomena. Recent studies suggest that measurement of biochemicals associated with pain and inflammation in the MTrP region, the sonographic study of MTrPs, and the magnetic resonance elastography for taut band image are potential tools for the diagnosis of MTrPs. Many methods have been used to treat myofascial pain, including laser therapy, shockwave therapy, and botulinum toxin type A injection.

  5. The epidemiology of Asperger syndrome. A total population study.

    PubMed

    Ehlers, S; Gillberg, C

    1993-11-01

    This paper describes a total population study of Asperger syndrome using a two-stage procedure. All school children in an outer Göteborg borough were screened. Final case selection based on clinical work-up showed a minimum prevalence of 3.6 per 1.000 children (7-16 years of age) using Gillberg and Gillberg's criteria and a male to female ratio of 4:1. Including suspected and possible Asperger syndrome cases, the prevalence rose to 7.1 per 1.000 children and the male:female ratio dropped to 2.3:1. These findings are discussed as they relate to previously published results in the field and to findings obtained using Szatmari et al.'s and ICD-10 draft criteria for the disorder. PMID:8294522

  6. [Algodystrophic syndrome in hemiplegia. Clinical and therapeutic study].

    PubMed

    Perrigot, M; Bergego, C; Hocini, A; Pierrot-Deseilligny, E

    1982-01-01

    The work here exposed is divided in two studies: clinical and therapeutical. 1--Clinical. The occurrence of shoulder hand syndrome has been studied in 130 patients with hemiplegia. Although the preventive treatment was correct in all cases, 90 of them developed neurodystrophy. It is shown that the appearance and the intensity of this syndrome can be predicted with some certainly as soon as three weeks after the onset of hemiplegia, since there is a statistically significant correlation with the aetiology and the existence of some associated factors. 2--Therapeutical. The efficacy of eight treatments (calcitonin, blocking agents, intravenous clomipramine, blocking agents, periarterial injections of local anaesthetics, local or general corticotherapy, physiotherapy, kinesitherapy), randomly given to the patients, was compared (90 patients and 130 treatments). Local corticotherapy was the most efficient treatment. Physiotherapy was less efficient but always well tolerated. All the other treatments were much less active. Kinesitherapy was however always necessary to prevent joint ankylosis. No correlation was found between the intensity of the shoulder hand syndrome and the efficacy of treatments.

  7. Divorce in Families of Children with Down Syndrome: A Population-Based Study

    ERIC Educational Resources Information Center

    Urbano, Richard C.; Hodapp, Robert M.

    2007-01-01

    In this study, we examined the nature, timing, and correlates of divorce in families of children with Down syndrome (647), other birth defects (10,283) and no identified disability (361,154). Divorce rates among families of children with Down syndrome were lower than in the other two groups. When divorce did occur in the Down syndrome group,…

  8. A prospective study of serum adiponectin and regression of metabolic syndrome: The ARIRANG study.

    PubMed

    Kim, Jang-Young; Yadav, Dhananjay; Ahn, Song Vogue; Koh, Sang-Baek

    2015-10-16

    Increased serum adiponectin levels may play a protective role in metabolic syndrome. However, few prospective studies have examined the effect of serum adiponectin in the improvement of metabolic components in subjects with metabolic syndrome. We investigated the association of serum adiponectin levels with the regression of metabolic syndrome in a population-based longitudinal study. A total of 1308 adults (575 men and 733 women) with metabolic syndrome at baseline were examined and followed. Baseline serum adiponectin concentrations were measured by radioimmunoassay. During an average of 2.6 years of follow-up, metabolic syndrome had disappeared in 184 men (29.8%) and 235 women (32.1%). In multivariable adjusted models, the odds ratio (95% confidence interval) for regression of metabolic syndrome comparing the highest to the lowest quartiles of adiponectin levels was 0.93 (0.56-1.53) in men and 2.48 (1.54-4.01) in women. Increased serum adiponectin is a predictor for the regression of metabolic syndrome in women. Adiponectin may have potential therapeutic applications in metabolic disease.

  9. Genome-Wide Association Studies for Polycystic Ovary Syndrome.

    PubMed

    Liu, Hongbin; Zhao, Han; Chen, Zi-Jiang

    2016-07-01

    Over the past several years, the field of reproductive medicine has witnessed great advances in genome-wide association studies (GWASs) of polycystic ovary syndrome (PCOS), leading to identification of several promising genes involved in hormone action, type 2 diabetes, and cell proliferation. This review summarizes the key findings and discusses their potential implications with regard to genetic mechanisms of PCOS. Limitations of GWAS are evaluated, emphasizing the understanding of the reasons for variability in results between individual studies. Root causes of misinterpretations of GWASs are also addressed. Finally, the impact of GWAS on future directions of multi- and interdisciplinary studies is discussed. PMID:27513023

  10. [Linburg-Comstock syndrome. Epidemiologic and anatomic study, clinical applications].

    PubMed

    Hamitouche, K; Roux, J L; Baeten, Y; Allieu, Y

    2000-05-01

    The Linburg-Comstock (LC) syndrome is distinguished by the inability to actively flex the interphalangeal (IP) joint of the thumb without simultaneously flexing the distal IP joint of the index finger. Any resistance to this 'parasitic' reaction causes pain on the palmar side of the wrist or in the distal part of the forearm; this is due to an anomalous tendinous connection between the flexor pollicus longus (FPL) and the flexor digitorum profundus (FDP). An epidemiological study was carried out on 264 individuals (a total of 528 hands were examined), and the LC syndrome was found in 98 subjects (37%); women were more frequently affected than men, and bilaterally rather than unilaterally. In addition, we dissected 26 fresh cadaver upper limbs, and in seven cases found an anomalous connection between FPL and FDP. We also examined the case of a young violinist with bilateral LC syndrome, who complained of pain in the distal part of the left forearm after prolonged musical exercises. Surgical investigation determined a complete fusion between FPL and FDP of the index with a common tendon. Treatment consisted of splitting this common tendon to form two separate tendons, thereby permitting a certain degree of independence between the thumb and index finger, and which considerably improved the violinist's musical performance. A review of the literature showed that there was a large quantity of anatomical descriptions available on these types of connection. Certain publications also provide an extremely precise report on the anthropological significance of these anomalies.

  11. Photoanthropometric study of craniofacial traits in individuals with Williams syndrome.

    PubMed

    Hovis, C L; Butler, M G

    1997-06-01

    A photoanthropometric method, which enables an objective description of facial structures, was used to better delineate the craniofacial characteristics of 29 individuals with Williams syndrome (WS; 18 males and 11 females) between the ages of 0 to 10 years, with an average age of 4.0 years. Facial parameters were measured from strict frontal and profile photographic 35-mm slides and compared with other facial measurements from the same face (e.g., palpebral fissure width to bizygomatic diameter). Sixteen photoanthropometric craniofacial indices were developed from 20 measurements (3 from the frontal face, 2 from the eye region, 3 from the nose region, 2 from the mouth region, 4 from the profile face, and 6 from the ear region). Based on our measurements of 29 Williams syndrome individuals, two parameters (e.g. nose length to midface height and palpebral fissure width to bizygomatic diameter) were outside the normal range when compared with photoanthropometric index standards for age established by Stengel-Rutkowski et al. from white control children. Overall, our data supported a high midface height, broad palpebral fissure width, broad interalar distance, short length of back of nose, prominent ears with long narrow conchae, increased chin height, increased inclination of the ears and a narrow bizygomatic diameter in WS patients. These craniofacial parameters (many not previously evaluated in WS patients) may become useful for early detection, and aid in the diagnosis and study of the development of the characteristic face in Williams syndrome subjects. PMID:9237500

  12. Carpal tunnel syndrome in childhood: study of 6 cases.

    PubMed

    Cruz Martínez, A; Arpa, J

    1998-08-01

    Six children, 4 girls and two boys, aged 5-14 years, with carpal tunnel syndrome (CTS) are reported. Median nerve entrapment had different aetiologies in each case. One patient developed unilateral CTS symptoms after intensive basketball training. He improved upon terminating this sporting activity. In 3 patients bilateral CTS was associated with Schwartz-Jampel syndrome, trigger finger and mucopolysaccharidosis I (MPS IS = Scheie syndrome), respectively. The latter subject, a boy aged 11 years who had severe bilateral muscle thenar weakness and atrophy, made a good recovery after surgery. Two cases with bilateral CTS had autosomal dominant disease. One of them showed familial CTS with thickening of the transverse carpal ligament. The other child (5 years old) presented early bilateral CTS as first manifestation of hereditary neuropathy with liability to pressure palsies (HNPP). His relatives were asymptomatic, but they showed electrophysiological and nerve biopsy changes consistent with HNPP. Nerve conduction studies (NCS) are diagnostic in paediatric CTS. Moreover, NCS is an objective method to evaluate the evolution of the nerve lesions after surgery. NCS must be performed in nerves of the propositus other than the median, as well as in first degree symptomatic and asymptomatic relatives in order to identify possible familial neuropathies.

  13. Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1

    PubMed Central

    LeMaire, Scott A; McDonald, Merry-Lynn N; Guo, Dong-chuan; Russell, Ludivine; Miller, Charles C; Johnson, Ralph J; Bekheirnia, Mir Reza; Franco, Luis M; Nguyen, Mary; Pyeritz, Reed E; Bavaria, Joseph E; Devereux, Richard; Maslen, Cheryl; Holmes, Kathryn W; Eagle, Kim; Body, Simon C; Seidman, Christine; Seidman, J G; Isselbacher, Eric M; Bray, Molly; Coselli, Joseph S; Estrera, Anthony L; Safi, Hazim J; Belmont, John W; Leal, Suzanne M; Milewicz, Dianna M

    2011-01-01

    Although thoracic aortic aneurysms and dissections (TAAD) can be inherited as a single-gene disorder, the genetic predisposition in the majority of affected people is poorly understood. In a multistage genome-wide association study (GWAS), we compared 765 individuals who had sporadic TAAD (STAAD) with 874 controls and identified common SNPs at a 15q21.1 locus that were associated with STAAD, with odds ratios of 1.6–1.8 that achieved genome-wide significance. We followed up 107 SNPs associated with STAAD with P < 1 × 10−5 in the region, in two separate STAAD cohorts. The associated SNPs fall into a large region of linkage disequilibrium encompassing FBN1, which encodes fibrillin-1. FBN1 mutations cause Marfan syndrome, whose major cardiovascular complication is TAAD. This study shows that common genetic variants at 15q21.1 that probably act via FBN1 are associated with STAAD, suggesting a common pathogenesis of aortic disease in Marfan syndrome and STAAD. PMID:21909107

  14. An electrophysiological study of the intermediate syndrome of organophosphate poisoning.

    PubMed

    Lorenzoni, Paulo José; Gasparetto, Juliano; Kay, Cláudia Suemi Kamoi; Scola, Rosana Herminia; Werneck, Lineu César

    2010-09-01

    Acute organophosphate (OP) poisoning is commonly seen in emergency medicine. Neurologists must be alert to detect neuromuscular transmission failure and other neurological complications that follow OP poisoning. We report a 37-year-old male with acute OP poisoning to emphasize the electrophysiological abnormalities during the intermediate syndrome (IMS). Motor nerve conduction studies revealed that a single nerve stimulation evoked a repetitive compound muscle action potential, whereas repetitive nerve stimulation resulted in a combination of a decrement-increment pattern and a repetitive fade response. Thus, electrophysiological studies can be used to monitor patients with IMS, and these test results correlate well with clinical findings in acute OP poisoning. PMID:20483619

  15. Study of platelet aggregation in acute coronary syndrome with special reference to metabolic syndrome

    PubMed Central

    Paul, Rudrajit; Banerjee, Amit K; Guha, Shantanu; Chaudhuri, Utpal; Ghosh, Srabani; Mondal, Jayati; Bandyopadhyay, Ramtanu

    2013-01-01

    Background/Context: Antiplatelet drug resistance increases the risk of adverse events like stent thrombosis in acute coronary syndrome (ACS). Metabolic syndrome (MS) is a prothrombotic state and presence of MS further increases the risk of antiplatelet drug resistance. Aims and Objectives: We studied platelet aggregation characteristics in patients of ACS for aspirin or clopidogrel resistance. We studied the relation of drug resistance with blood markers like high sensitivity C-reactive protein (hsCRP). We also studied for any relation of drug resistance with presence of MS. Materials and Methods: We studied platelet aggregation characteristics by optical aggregometry using platelet-rich plasma (PRP) of patients. Collagen (2 μg/mL) and adenosine diphosphate (ADP; 10 μmol) were used. Greater than 50% aggregation in PRP of patients was taken as an evidence of drug resistance. Suitable blood tests were done including newer risk markers like hsCRP, apolipoprotein B, and fibrinogen. Statistical test: Statistical tests included Student's t-test and Kendall's rank correlation coefficient. Results: We had a total of 94 patients of ACS with 47 (50%) having MS. MS patients showed higher blood levels of hsCRP and fibrinogen. Twenty-eight (59.5%) patients with MS showed antiplatelet drug resistance compared to 12 patients without MS. Serum fibrinogen showed strongest correlation with drug resistance. HsCRP levels showed correlation with aspirin resistance (r = 0.53) only in the MS group. Discussion and Conclusion: We found significantly high prevalence of antiplatelet drug resistance. Aspirin and clopidogrel resistance was comparable. MS was a significant risk factor for drug resistance. The prothrombotic and proinflammatory markers showed strong correlation with drug resistance. A larger randomized trial is needed to better characterize this clinical problem. PMID:24083147

  16. Asperger syndrome related suicidal behavior: two case studies.

    PubMed

    Kocourkova, Jana; Dudova, Iva; Koutek, Jiri

    2013-01-01

    Asperger syndrome hinders adaptation to developmental challenges during childhood and adolescence, particularly with regard to interpersonal relationships. Individuals with Asperger syndrome display lack of empathy and limited ability to understand social and emotional exchanges with other people. Individuals with Asperger syndrome are significantly exposed to the risk of suicidal behavior, especially during adolescence. The authors describe cases of suicidal behavior in two adolescent boys with Asperger syndrome.

  17. Asperger syndrome related suicidal behavior: two case studies.

    PubMed

    Kocourkova, Jana; Dudova, Iva; Koutek, Jiri

    2013-01-01

    Asperger syndrome hinders adaptation to developmental challenges during childhood and adolescence, particularly with regard to interpersonal relationships. Individuals with Asperger syndrome display lack of empathy and limited ability to understand social and emotional exchanges with other people. Individuals with Asperger syndrome are significantly exposed to the risk of suicidal behavior, especially during adolescence. The authors describe cases of suicidal behavior in two adolescent boys with Asperger syndrome. PMID:24294002

  18. Naturalistic Intervention for Asperger Syndrome: A Case Study

    ERIC Educational Resources Information Center

    Choi, Serene Hyun-Jin; Nieminen, Timo A.

    2008-01-01

    On the basis of their cognitive abilities, children with Asperger syndrome are attractive candidates for inclusive education and, in Australia, most are in integrated settings. However, social interaction between children with Asperger syndrome and their peers remains problematic, with the children with Asperger syndrome often being left alone…

  19. Dancing with Down Syndrome: A Phenomenological Case Study

    ERIC Educational Resources Information Center

    Reinders, Nicole; Bryden, Pamela J.; Fletcher, Paula C.

    2015-01-01

    "Dance for individuals with Down syndrome has many benefits; however, there is little research on this topic." Down syndrome is the most common "genetic condition," resulting in psychological, physical, and social impairments. There is research to suggest that dance may be a beneficial activity for people with Down syndrome;…

  20. Aortic tear and dissection related to connective tissues abnormalities resembling Marfan syndrome in a Great Dane.

    PubMed

    Lenz, Jennifer A; Bach, Jonathan F; Bell, Cynthia M; Stepien, Rebecca L

    2015-06-01

    Aortic tears and acute aortic dissection are rarely reported in dogs. This report describes a case of aortic dissection and probable sinus of Valsalva rupture in a young Great Dane with associated histopathologic findings suggestive of a connective tissue abnormality.

  1. Miller fisher syndrome: a hospital-based retrospective study.

    PubMed

    Yuan, C L; Wang, Y J; Tsai, C P

    2000-01-01

    Miller Fisher syndrome (MFS), characterized as ataxia, areflexia and ophthalmoplegia, is generally considered as a variant of Guillain-Barré syndrome (GBS). However, some investigators believed that the syndrome could be explained by a central origin. To obtain more information about MFS for comparison with GBS, we conducted a retrospective study by analyzing the clinical data of MFS patients admitted to our hospital over a period of 11 years. The calibrated male/female ratio was 1.65. A seasonal clustering in winter was noted. The percentage of MFS among GBS was especially high (18%, 11/60) in Taiwan when compared with other series. Involvement of limb muscle strength, autonomic function and cranial nerves, except ocular motor nerves, was rarely found in our patients. When MFS is accompanied by limb weakness, it might represent a transitional form between MFS and GBS. Bulbar palsy and dysautonomia might predict a relatively poor prognosis. To obtain more reliable information, lumbar puncture should be done 1 week after disease onset, and electrophysiological tests should be done serially in every MFS patient. Eighty percent (80%, 4/5) of our patients were positive for IgG anti-GQ(1b) antibody activity. In our study, there is more evidence indicating that MFS is a peripheral nervous system disorder; however, no definite conclusion could be made as to whether MFS is exclusively a peripheral or central nervous system disorder. We think MFS is an immune-mediated clinical entity which mainly involves the peripheral nervous system with rare involvement of other parts of the central nervous system. PMID:10965158

  2. Systemic Multiple Aneurysms Caused by Vascular Ehlers-Danlos Syndrome.

    PubMed

    Gui, Xinyu; Li, Fangda; Wu, Lingeer; Zheng, Yuehong

    2016-07-01

    Systemic multiple aneurysms are rare and usually associated with collagen tissue disease, such as Ehlers-Danlos syndrome (EDS) or Marfan syndrome. In the present case, we describe a 39-year-old male patient with systemic multiple aneurysms and acute intraperitoneal hemorrhage who was clinically diagnosed with vascular EDS. Coil embolization of the distal segment of the common hepatic artery was performed, which resolved the patient's symptoms. With this case presentation, we aim to increase the awareness of vascular EDS among clinicians and emphasize the extreme fragility of the arteries in patients with vascular EDS.

  3. Systemic Multiple Aneurysms Caused by Vascular Ehlers-Danlos Syndrome.

    PubMed

    Gui, Xinyu; Li, Fangda; Wu, Lingeer; Zheng, Yuehong

    2016-07-01

    Systemic multiple aneurysms are rare and usually associated with collagen tissue disease, such as Ehlers-Danlos syndrome (EDS) or Marfan syndrome. In the present case, we describe a 39-year-old male patient with systemic multiple aneurysms and acute intraperitoneal hemorrhage who was clinically diagnosed with vascular EDS. Coil embolization of the distal segment of the common hepatic artery was performed, which resolved the patient's symptoms. With this case presentation, we aim to increase the awareness of vascular EDS among clinicians and emphasize the extreme fragility of the arteries in patients with vascular EDS. PMID:27206743

  4. Marfanoid-progeroid-lipodystrophy syndrome: a newly recognized fibrillinopathy.

    PubMed

    Passarge, Eberhard; Robinson, Peter N; Graul-Neumann, Luitgard M

    2016-08-01

    We review six previous reports between 2000 and 2014 of seven unrelated patients with mutations in the FBN1 gene affecting function. All mutations occurred in exon 64 of the FBN1 gene. A distinctive phenotype consisting of partial manifestations of Marfan syndrome, a progeroid facial appearance, and clinical features of lipodystrophy was present in all individuals. We suggest that this previously unknown genotype/phenotype relationship constitutes a new fibrillinopathy for which the name marfanoid-progeroid-lipodystrophy syndrome would be appropriate. PMID:26860060

  5. The HELLP syndrome in the antiphospholipid syndrome: retrospective study of 16 cases in 15 women

    PubMed Central

    Le Thi, Thuong D; Tieulie, N; Costedoat, N; Andreu, M; Wechsler, B; Vauthier-Brouzes, D; Aumaitre, O; Piette, J

    2005-01-01

    Objective: To study the characteristics of the haemolysis, elevated liver enzymes, low platelets (HELLP) syndrome in the antiphospholipid syndrome (APS) and its influence on the subsequent pregnancies. Methods: This was a retrospective analysis of 16 episodes of HELLP complicating APS in 15 women. Results: HELLP was complete in 10 cases and partial in six. It occurred during the second trimester in seven cases (the earliest at 18 weeks' gestation), the third trimester in seven cases, and the day following delivery in two cases. Pre-eclampsia was present in six cases and eclampsia in five. Outcome of pregnancies was: live birth (n = 8), stillbirth (n = 2) and fetal death (n = 6). APS was primary in nine women and secondary to systemic lupus erythematosus (SLE) in six. HELLP revealed primary APS in six cases. Seven women were not treated. Low dose aspirin was empirically prescribed in one woman whose APS had been undiagnosed despite a history of two fetal deaths. In the other women, therapy consisted of aspirin (n = 8), low molecular weight heparin with a dose varying between 3000 and 12 000 U daily (n = 5), and high dose immunoglobulin every 4 weeks (n = 2), hydroxychloroquine (n = 4), and prednisone (n = 6). Six women had seven subsequent pregnancies, 3–6 years after the complicated pregnancy. HELLP recurred at 33 weeks' gestation in one woman with SLE treated with prednisone, hydroxychloroquine, aspirin, and enoxaparin, and pregnancy ended in live birth. One woman became pregnant after in vitro fertilisation and embryo transfer, but pregnancy ended in fetal death despite prednisone, hydroxychloroquine, and enoxaparin. Four women had five uneventful pregnancies with 100 mg daily aspirin and heparin. Conclusions: APS may be revealed by HELLP. In APS, HELLP is associated with pre-eclampsia/eclampsia in most cases and seems to occur earlier than in the general population. Heparin plus aspirin may prevent obstetric complications in the subsequent pregnancies. PMID

  6. Sleep disturbances in Angelman syndrome: a questionnaire study.

    PubMed

    Bruni, Oliviero; Ferri, Raffaele; D'Agostino, Gaetana; Miano, Silvia; Roccella, Michele; Elia, Maurizio

    2004-06-01

    Only few studies are available on sleep disorders in Angelman syndrome (AS), a neurodevelopmental disorder with several behavior disturbances. The aim of this study was to determine the prevalence of sleep disorders in a relatively large group of AS subjects, compared to that of age-matched controls. Forty-nine consecutive parents of patients with AS (26 males and 23 females aged 2.3-26.2 years) were interviewed and filled out a comprehensive sleep questionnaire. Based on their genetic etiology, four groups were defined: deletion of chromosome 15q11-13 (25 subjects); methylation imprinting mutation (six subjects), UBE3A mutations (seven subjects) and paternal uniparental disomy (five subjects). In the remaining cases genetic testings were negative. A significantly high frequency of disorders of initiating and maintaining sleep, prolonged sleep latency, prolonged wakefulness after sleep onset, high number of night awakenings and reduced total sleep time were found in our AS patients, as compared to age-matched controls. We also found other types of sleep disorders, never reported before, such as enuresis, bruxism, sleep terrors, somnambulism, nocturnal hyperkinesia, and snoring. No differences were found between the four genetic aetiology groups. Moreover, we did not find important improvement of sleep disturbances from pre-pubertal to post-pubertal ages. Our data confirm the significant presence of sleep/wake rhythms fragmentation, peculiar of AS, and also demonstrate the presence of several other types of sleep disturbances in this syndrome. PMID:15130689

  7. White spot syndrome virus inactivation study by using gamma irradiation

    NASA Astrophysics Data System (ADS)

    Heidareh, Marzieh; Sedeh, Farahnaz Motamedi; Soltani, Mehdi; Rajabifar, Saeed; Afsharnasab, Mohammad; Dashtiannasab, Aghil

    2014-09-01

    The present study was conducted to investigate the effect of gamma irradiation on white spot syndrome virus (WSSV). White spot syndrome virus is a pathogen of major economic importance in cultured penaeid shrimp industries. White spot disease can cause mortalities reaching 100% within 3-10 days of gross signs appearing. During the period of culture, immunostimulant agents and vaccines may provide potential methods to protect shrimps from opportunistic and pathogenic microrganisms. In this study, firstly, WSSV was isolated from infected shrimp and then multiplied in crayfish. WSSV was purified from the infected crayfish haemolymph by sucrose gradient and confirmed by transmission electron microscopy. In vivo virus titration was performed in shrimp, Penaeus semisulcatus. The LD50 of live virus stock was calculated 10 5.4/mL. Shrimp post-larvae (1-2 g) were treated with gamma-irradiated (different doses) WSSV (100 to 10-4 dilutions) for a period of 10 days. The dose/survival curve for irradiated and un-irradiated WSSV was drawn; the optimum dose range for inactivation of WSSV and unaltered antigenicity was obtained 14-15 kGy. This preliminary information suggests that shrimp appear to benefit from treatment with gammairradiated WSSV especially at 14-15 KGy.

  8. Relevant Outcomes in Pediatric Acute Respiratory Distress Syndrome Studies

    PubMed Central

    Yehya, Nadir; Thomas, Neal J.

    2016-01-01

    Despite distinct epidemiology and outcomes, pediatric acute respiratory distress syndrome (PARDS) is often managed based on evidence extrapolated from treatment of adults. The impact of non-pulmonary processes on mortality as well as the lower mortality rate compared to adults with acute respiratory distress syndrome (ARDS) renders the utilization of short-term mortality as a primary outcome measure for interventional studies problematic. However, data regarding alternatives to mortality are profoundly understudied, and proposed alternatives, such as ventilator-free days, may be themselves subject to hidden biases. Given the neuropsychiatric and functional impairment in adult survivors of ARDS, characterization of these morbidities in children with PARDS is of paramount importance. The purpose of this review is to frame these challenges in the context of the existing pediatric literature, and using adult ARDS as a guide, suggest potential clinically relevant outcomes that deserve further investigation. The goal is to identify important areas of study in order to better define clinical practice and facilitate future interventional trials in PARDS. PMID:27242980

  9. Dysmorphological and pharmacological studies in 4q- syndrome.

    PubMed

    Strehle, E M

    2011-01-01

    The 4q- syndrome includes interstitial and terminal deletions of the long arm of chromosome 4. In this study 22 children with 4q- were evaluated through face-to-face assessments and/or two-dimensional digital photographs. In addition, 15 parents participated in a questionnaire survey regarding pharmacological and other treatments which their affected child received. A high forehead was seen in 73% of index cases and was the only facial feature consistently present in this group. There may be a link between this phenotypic characteristic and the increased incidence of autistic spectrum disorder in 4q deletion syndrome (33%). Two thirds of the subjects were taking long term prescription drugs and/or food supplements. Commonly used nutritional supplements were multivitamins, carnitine, coenzyme Q10 and omega-3 fatty acids. They were well tolerated by the probands but the literature evidence for their specific effectiveness was weak. Twelve out of 15 children had speech and language therapy, occupational therapy or physiotherapy, and 6/15 regularly saw a psychologist. Future 4q- research should focus on gene-phenotype correlations, 3D face analysis and drug treatment to improve global and medical functioning.

  10. Case study: Gluteal compartment syndrome as a cause of lumbosacral radiculoplexopathy and complex regional pain syndrome.

    PubMed

    Lederman, Andrew; Turk, David; Howard, Antonio; Reddy, Srinivas; Stern, Michelle

    2016-01-01

    We present the case of a 24 yr old male who was diagnosed with gluteal compartment syndrome and was subsequently found to have developed lumbosacral radiculoplexopathy and complex regional pain syndrome. The patient's gluteal compartment syndrome was diagnosed within 24 h of presentation to the emergency room, and he underwent emergent compartment release. While recovering postoperatively, persistent weakness was noted in the right lower limb. Results of electrodiagnostic testing were consistent with a lumbosacral radiculoplexopathy. After admission to inpatient rehabilitation, the patient complained of pain, burning sensation, and numbness in the distal right lower limb. Based on clinical findings, he was diagnosed with complex regional pain syndrome type II, or causalgia, and was referred for a lumbar sympathetic block under fluoroscopic guidance. Sympathetic block resulted in relief of the patient's symptoms. He was discharged home with good pain control on oral medications.

  11. Case study: Gluteal compartment syndrome as a cause of lumbosacral radiculoplexopathy and complex regional pain syndrome.

    PubMed

    Lederman, Andrew; Turk, David; Howard, Antonio; Reddy, Srinivas; Stern, Michelle

    2016-01-01

    We present the case of a 24 yr old male who was diagnosed with gluteal compartment syndrome and was subsequently found to have developed lumbosacral radiculoplexopathy and complex regional pain syndrome. The patient's gluteal compartment syndrome was diagnosed within 24 h of presentation to the emergency room, and he underwent emergent compartment release. While recovering postoperatively, persistent weakness was noted in the right lower limb. Results of electrodiagnostic testing were consistent with a lumbosacral radiculoplexopathy. After admission to inpatient rehabilitation, the patient complained of pain, burning sensation, and numbness in the distal right lower limb. Based on clinical findings, he was diagnosed with complex regional pain syndrome type II, or causalgia, and was referred for a lumbar sympathetic block under fluoroscopic guidance. Sympathetic block resulted in relief of the patient's symptoms. He was discharged home with good pain control on oral medications. PMID:27533628

  12. Growth curves for Turkish Girls with Turner Syndrome: Results of the Turkish Turner Syndrome Study Group

    PubMed Central

    Darendeliler, Feyza; Yeşilkaya, Ediz; Bereket, Abdullah; Baş, Firdevs; Bundak, Rüveyde; Sarı, Erkan; Küçükemre Aydın, Banu; Darcan, Şükran; Dündar, Bumin; Büyükinan, Muammer; Kara, Cengiz; Mazıcıoğlu, Mümtaz M.; Adal, Erdal; Akıncı, Ayşehan; Atabek, Mehmet Emre; Demirel, Fatma; Çelik, Nurullah; Özkan, Behzat; Özhan, Bayram; Orbak, Zerrin; Ersoy, Betül; Doğan, Murat; Ataş, Ali; Turan, Serap; Gökşen, Damla; Tarım, Ömer; Yüksel, Bilgin; Ercan, Oya; Hatun, Şükrü; Şimşek, Enver; Ökten, Ayşenur; Abacı, Ayhan; Döneray, Hakan; Özbek, Mehmet Nuri; Keskin, Mehmet; Önal, Hasan; Akyürek, Nesibe; Bulan, Kezban; Tepe, Derya; Emeksiz, Hamdi Cihan; Demir, Korcan; Kızılay, Deniz; Topaloğlu, Ali Kemal; Eren, Erdal; Özen, Samim; Demirbilek, Hüseyin; Abalı, Saygın; Akın, Leyla; Eklioğlu, Beray Selver; Kaba, Sultan; Anık, Ahmet; Baş, Serpil; Ünüvar, Tolga; Sağlam, Halil; Bolu, Semih; Özgen, Tolga; Doğan, Durmuş; Çakır, Esra Deniz; Şen, Yaşar; Andıran, Nesibe; Çizmecioğlu, Filiz; Evliyaoğlu, Olcay; Karagüzel, Gülay; Pirgon, Özgür; Çatlı, Gönül; Can, Hatice Dilek; Gürbüz, Fatih; Binay, Çiğdem; Baş, Veysel Nijat; Sağlam, Celal; Gül, Davut; Polat, Adem; Açıkel, Cengizhan; Cinaz, Peyami

    2015-01-01

    Objective: Children with Turner syndrome (TS) have a specific growth pattern that is quite different from that of healthy children. Many countries have population-specific growth charts for TS. Considering national and ethnic differences, we undertook this multicenter collaborative study to construct growth charts and reference values for height, weight and body mass index (BMI) from 3 years of age to adulthood for spontaneous growth of Turkish girls with TS. Methods: Cross-sectional height and weight data of 842 patients with TS, younger than 18 years of age and before starting any therapy, were evaluated. Results: The data were processed to calculate the 3rd, 10th, 25th, 50th, 75th, 90th and 97th percentile values for defined ages and to construct growth curves for height-for-age, weight-for-age and BMI-for-age of girls with TS. The growth pattern of TS girls in this series resembled the growth pattern of TS girls in other reports, but there were differences in height between our series and the others. Conclusion: This study provides disease-specific growth charts for Turkish girls with TS. These disease-specific national growth charts will serve to improve the evaluation of growth and its management with growth-promoting therapeutic agents in TS patients. PMID:26831551

  13. Asperger Syndrome and Schizophrenia: A Comparative Neuropsychological Study.

    PubMed

    Marinopoulou, Maria; Lugnegård, Tove; Hallerbäck, Maria Unenge; Gillberg, Christopher; Billstedt, Eva

    2016-07-01

    There has been an increasing interest in possible connections between autism spectrum disorder (ASD) and schizophrenia in the last decade. Neuropsychological comparison studies have, however, been few. The present study examined similarities and differences in intellectual and executive functioning between adults with Asperger syndrome (AS) and adults with schizophrenic psychosis (SP). A group with AS and a group with SP were assessed neuropsychologically with WAIS-III and D-KEFS. Similarities were found between groups, as displayed by an uneven cognitive profile, limitations in working memory, processing speed and some aspects of executive functioning. Full Scale IQ was higher in the AS group. These results add to the current research illuminating similarities and differences between ASD and schizophrenia on a cognitive level.

  14. Asperger Syndrome and Schizophrenia: A Comparative Neuropsychological Study.

    PubMed

    Marinopoulou, Maria; Lugnegård, Tove; Hallerbäck, Maria Unenge; Gillberg, Christopher; Billstedt, Eva

    2016-07-01

    There has been an increasing interest in possible connections between autism spectrum disorder (ASD) and schizophrenia in the last decade. Neuropsychological comparison studies have, however, been few. The present study examined similarities and differences in intellectual and executive functioning between adults with Asperger syndrome (AS) and adults with schizophrenic psychosis (SP). A group with AS and a group with SP were assessed neuropsychologically with WAIS-III and D-KEFS. Similarities were found between groups, as displayed by an uneven cognitive profile, limitations in working memory, processing speed and some aspects of executive functioning. Full Scale IQ was higher in the AS group. These results add to the current research illuminating similarities and differences between ASD and schizophrenia on a cognitive level. PMID:26936160

  15. Parental Alienation Syndrome in Italian legal judgments: an exploratory study.

    PubMed

    Lavadera, Anna Lubrano; Ferracuti, Stefano; Togliatti, Marisa Malagoli

    2012-01-01

    The present study highlights the characteristics of separated families in Italy for whom Parental Alienation Syndrome (PAS) has been diagnosed during court custody evaluations. The study analyzed the psychological reports of 12 court-appointed expert evaluations of families for whom PAS had been diagnosed. Twelve evaluations that did not receive the PAS diagnosis served as a control group. A specific coding system was used for data analysis. The results indicated that the alienating parents were always the parents who had custody of the children. Children who were diagnosed with PAS were predominantly the only child in the family, had identity problems and manifested manipulative behavior. The consultant in these cases suggested individual psychotherapy for the children and recommended foster care to the Social Services agency.

  16. Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study.

    PubMed

    Halbach, Nicky; Smeets, Eric E; Julu, Peter; Witt-Engerström, Ingegerd; Pini, Giorgio; Bigoni, Stefania; Hansen, Stig; Apartopoulos, Flora; Delamont, Robert; van Roozendaal, Kees; Scusa, Maria F; Borelli, Paolo; Candel, Math; Curfs, Leopold

    2016-09-01

    Many studies have attempted to establish the genotype-phenotype correlation in Rett syndrome (RTT). Cardiorespiratory measurements provide robust objective data, to correlate with each of the different clinical phenotypes. It has important implications for the management and treatment of this syndrome. The aim of this study was to correlate the genotype with the quantitative cardiorespiratory data obtained by neurophysiological measurement combined with a clinical severity score. This international multicenter study was conducted in four European countries from 1999 to 2012. The study cohort consisted of a group of 132 well-defined RTT females aged between 2 and 43 years with extended clinical, molecular, and neurophysiological assessments. Diagnosis of RTT was based on the consensus criteria for RTT and molecular confirmation. Genotype-phenotype analyses of clinical features and cardiorespiratory data were performed after grouping mutations by the same type and localization or having the same putative biological effect on the MeCP2 protein, and subsequently on eight single recurrent mutations. A less severe phenotype was seen in females with CTS, p.R133C, and p.R294X mutations. Autonomic disturbances were present in all females, and not restricted to nor influenced by one specific group or any single recurrent mutation. The objective information from non-invasive neurophysiological evaluation of the disturbed central autonomic control is of great importance in helping to organize the lifelong care for females with RTT. Further research is needed to provide insights into the pathogenesis of autonomic dysfunction, and to develop evidence-based management in RTT. © 2016 Wiley Periodicals, Inc.

  17. Median and anterior interosseous nerve entrapment syndromes versus carpal tunnel syndrome: a study of two cases

    PubMed Central

    Tchoryk, Jerry

    2000-01-01

    Two patients presented with forearm and hand pain, and were initially examined by their medical doctors. The first case was diagnosed as a possible neuralgia due to congenital cervical spinal fusion. The second case had a radiographic study taken of the elbow and hand, which was negative and therefore no conclusive diagnosis or treatment was given. This article will discuss the anatomical path of the median and anterior interosseous nerves in the forearm, the possible areas of neural entrapment or irritation and the resulting symptoms and signs as compared to carpal tunnel syndrome. The patient’s presenting symptoms were found to be the most significant detail when differentiating the type of neurological entrapment. In both cases, the patients presented with a gradual progression of anterior forearm pain, numbness or discomfort that radiated to the hand and fingers. To find the cause of this repetitive type of irritation, the functional movement patterns of the upper extremity kinetic chain was assessed including the cervicothoracic and scapulothoracic regions. Provocative tests were used to confirm the site of irritation. The first case showed pronator quadratus weakness. The second patient’s symptoms were reproduced with resisted elbow flexion and pronation while digital pressure was applied to the median nerve. Acute care was directed at the specific area of irritation/inflammation with electrotherapeusis. The treatment also consisted of spinal and joint manipulation, proprioceptive neuromuscular facilitation techniques, strengthening and endurance rehabilitation exercises aimed at restoring the proper kinematics of the upper extremity

  18. [Concomitant diseases in primary joint hypermobility syndrome].

    PubMed

    Skoumal, Martin; Haberhauer, Günther; Mayr, Hans

    2004-10-15

    The primary joint hypermobility syndrome (pJH) is an overlap disorder of connective-tissue dysplasias, which incorporates features seen in the Marfan syndromes (MFS), Ehlers-Danlos syndromes (EDS), and osteogenesis imperfecta. Patients with pJH usually present arthralgia, back pain, soft-tissue lesions, recurrent joint dislocation, or subluxation. Extraarticular features may include, e. g., striae cutis, keratoconus, easy bruising, mitral valve prolapse, aortic incompetence, aneurysms, pneumothorax, hernia, urinary incontinence, and pelvic floor prolapse. Due to the high frequency of critical dissection and rupture, the early recognition of rare life-threatening complications such as dilatation of the aortic root and aneurysms is important. Therefore, patients (and their family members) with pJH should also be examined for life-threatening features seen in MFS and EDS. PMID:15490074

  19. Twin-to-twin transfusion syndrome: a case study.

    PubMed

    Giconi, Stephanie S

    2013-02-01

    Twin-to-twin transfusion syndrome (TTTS) is a disease that affects roughly 15% of monochorionic twins. Although TTTS is not extremely prevalent, the rate of mortality and morbidly approaches 100% without early detection and treatment. The following case study is a triplet pregnancy that included a set of monochorionic twins affected by TTTS. Typically, it is assumed that monochorionicity can identify the zygosity of twins, which was disproven in this case. Research indicates that there has been an increased rate of monochorionic twins with in vitro fertilization. There is great debate about the most appropriate treatment modality for TTTS. Perinatal treatment followed by neonatal management is the standard of care for TTTS. Implications for the neonatal nurse practitioner and care for the patients are discussed.

  20. Functional communication training in rett syndrome: a preliminary study.

    PubMed

    Byiers, Breanne J; Dimian, Adele; Symons, Frank J

    2014-07-01

    Rett syndrome (RTT) is associated with a range of serious neurodevelopmental consequences including severe communicative impairments. Currently, no evidence-based communication interventions exist for the population ( Sigafoos et al., 2009 ). The purpose of the current study was to examine the effectiveness of functional assessment (FA) and functional communication training (FCT) methods for teaching 3 individuals (ages 15-47 years) with classic RTT novel communicative behaviors. Using single-case experimental designs, functional reinforcers were identified (FA) and each participant quickly learned to activate a voice-output switch to obtain a reinforcer (FCT). These results suggest that individuals with classic RTT can learn novel communicative responses, which has important implications for future intervention research.

  1. A Follow-Up Study on Word and Non-Word Reading Skills in Down Syndrome

    ERIC Educational Resources Information Center

    Roch, Maja; Jarrold, Christopher

    2012-01-01

    The current study was designed to trace changes in the relationship between non-word reading and irregular word reading on the one hand, and between phonological awareness and non-word reading on the other, through a follow-up study of a group of individuals with Down syndrome. Twelve individuals with Down syndrome, whose data were originally…

  2. [Alagille's syndrome. Clinical and histo-pathologic study].

    PubMed

    Moreno Giménez, J C; del Rio Mapelli, L; Camacho Martinez, F

    1984-01-01

    Alagille 's syndrome, described in 1970, associates a chronic intrahepatic cholestasis (hypoplasia of the interlobulary biliary ducts), vertebral and visceral malformations, retarded physical, mental and sexual development and neonatal jaundice. A series of cutaneous manifestations are reviewed in their clinical, histological and ultrastructural aspects. Its relation with the zinc deficiency syndrome is discussed. PMID:6732121

  3. Late central demyelination after Fischer's syndrome: MRI studies.

    PubMed Central

    Ferrer, X; Ellie, E; Larrivière, M; Deleplanque, B; Lagueny, A; Julien, J

    1993-01-01

    The case of a patient who presented with clinical, electrophysiological, and MRI evidence of central demyelination is described. The patient had been admitted to hospital for Fischer's syndrome a few years previously. The association of these two events suggests that central and peripheral myelinopathy may be related in Fischer's syndrome. PMID:8509787

  4. Orthopedic Manifestations of Mobius Syndrome: Case Series and Survey Study

    PubMed Central

    McClure, Philip; Booy, David; Katarincic, Julia; Eberson, Craig

    2016-01-01

    Background. Mobius Syndrome is a rare disease defined by bilateral congenital 7th nerve palsy. We focus on reporting the prevalence of orthopedic disease in this population. Methods. Twenty-three individuals with Mobius Syndrome underwent orthopedic physical examination, and additional 96 patients filled out a survey for self-reported orthopedic diagnoses. Results. Clubfoot was present in 60% of individuals in the physical exam series and 42% of those in the survey. Scoliosis was present in 26% and 28%, respectively. Poland's Syndrome was present in 17% and 30%. In addition to these findings, 27% of patients reported having difficulty with anesthesia, including difficulty in intubation and airway problems. Conclusion. An increased prevalence of scoliosis, clubfoot, transverse limb deficiencies, and Poland's Syndrome is identified in the setting of Mobius Syndrome. In the setting of several deformities often requiring surgical correction, a high incidence of anesthetic difficulty is noted and should be discussed with patients and other providers during surgical planning. PMID:26977161

  5. Orthopedic Manifestations of Mobius Syndrome: Case Series and Survey Study.

    PubMed

    McClure, Philip; Booy, David; Katarincic, Julia; Eberson, Craig

    2016-01-01

    Background. Mobius Syndrome is a rare disease defined by bilateral congenital 7th nerve palsy. We focus on reporting the prevalence of orthopedic disease in this population. Methods. Twenty-three individuals with Mobius Syndrome underwent orthopedic physical examination, and additional 96 patients filled out a survey for self-reported orthopedic diagnoses. Results. Clubfoot was present in 60% of individuals in the physical exam series and 42% of those in the survey. Scoliosis was present in 26% and 28%, respectively. Poland's Syndrome was present in 17% and 30%. In addition to these findings, 27% of patients reported having difficulty with anesthesia, including difficulty in intubation and airway problems. Conclusion. An increased prevalence of scoliosis, clubfoot, transverse limb deficiencies, and Poland's Syndrome is identified in the setting of Mobius Syndrome. In the setting of several deformities often requiring surgical correction, a high incidence of anesthetic difficulty is noted and should be discussed with patients and other providers during surgical planning. PMID:26977161

  6. Velo-Cardio-Facial Syndrome: 30 Years of Study

    PubMed Central

    Shprintzen, Robert J.

    2009-01-01

    Velo-cardio-facial syndrome is one of the names that has been attached to one of the most common multiple anomaly syndromes in humans. The labels DiGeorge sequence, 22q11 deletion syndrome, conotruncal anomalies face syndrome, CATCH 22, and Sedlačková syndrome have all been attached to the same disorder. Velo-cardio-facial syndrome has an expansive phenotype with more than 180 clinical features described that involve essentially every organ and system. The syndrome has drawn considerable attention because a number of common psychiatric illnesses are phenotypic features including attention deficit disorder, schizophrenia, and bipolar disorder. The expression is highly variable with some individuals being essentially normal at the mildest end of the spectrum, and the most severe cases having life-threatening and life-impairing problems. The syndrome is caused by a microdeletion from chromosome 22 at the q11.2 band. Although the large majority of affected individuals have identical 3 megabase deletions, less than 10% of cases have smaller deletions of 1.5 or 2.0 megabases. The 3 megabase deletion encompasses a region containing 40 genes. The syndrome has a population prevalence of approximately 1:2,000 in the U.S., although incidence is higher. Although initially a clinical diagnosis, today velo-cardio-facial syndrome can be diagnosed with extremely high accuracy by fluorescence in situ hybridization (FISH) and several other laboratory techniques. Clinical management is age dependent with acute medical problems such as congenital heart disease, immune disorders, feeding problems, cleft palate, and developmental disorders occupying management in infancy and preschool years. Management shifts to cognitive, behavioral, and learning disorders during school years, and then to the potential for psychiatric disorders including psychosis in late adolescence and adult years. Although the majority of people with velo-cardio-facial syndrome do not develop psychosis, the risk

  7. Does Attention Constrain Developmental Trajectories in Fragile X Syndrome? A 3-Year Prospective Longitudinal Study

    ERIC Educational Resources Information Center

    Cornish, Kim; Cole, Victoria; Longhi, Elena; Karmiloff-Smith, Annette; Scerif, Gaia

    2012-01-01

    Basic attentional processes and their impact on developmental trajectories in fragile X syndrome were assessed in a 3-year prospective study. Although fragile X syndrome is a monogenic X-linked disorder, there is striking variability in outcomes even in young boys with the condition. Attention is a key factor constraining interactions with the…

  8. Do Children with down Syndrome Perform Sufficient Physical Activity to Maintain Good Health? A Pilot Study

    ERIC Educational Resources Information Center

    Shields, Nora; Dodd, Karen J.; Abblitt, Casey

    2009-01-01

    Our pilot study investigated if children with Down syndrome engaged in the recommended 60 min of moderate to vigorous physical activity (MVPA) every day. Twenty-three children with Down syndrome (7 girls, 16 boys; mean age 11.7 years, SD = 3.1) wore a triaxial accelerometer for 7 consecutive days to measure their activity levels. The average…

  9. Study of Different Social Rewards Used in Down's Syndrome Children's Early Stimulation

    ERIC Educational Resources Information Center

    Sanz, Teresa; Menendez, Javier; Rosique, Teresa

    2011-01-01

    This article describes the results obtained with two types of social rewards used in early stimulation of Down's syndrome children. In the study we focus on the efficiency of the employment of the social rewards or reinforcements used in the early stimulation, bearing in mind that the children with Down's syndrome possess a social development…

  10. Grammatical Constructions in Cri du Chat Syndrome--Findings from a Case Study

    ERIC Educational Resources Information Center

    Kristoffersen, Kristian Emil

    2009-01-01

    The literature on grammatical skills in persons with Cri du chat syndrome (CCS) is very limited, and the need for more knowledge in this area is thus evident, in particular for speech and language therapists working with individuals with this syndrome. This case study report describes the syntactic skills of a 14-year-old Norwegian girl with CCS.…

  11. Metric Analysis of the Hard Palate in Children with Down Syndrome--A Comparative Study

    ERIC Educational Resources Information Center

    Bhagyalakshmi, Gopalan; Renukarya, Annappa Jai; Rajangam, Sayee

    2007-01-01

    The hard palate is viewed as playing an important role in the passive articulation of speech. Its probable role in the defective articulation of speech in individuals with Down syndrome has been examined in the present study. In individuals with Down syndrome, the hard palate is highly arched, constricted, and narrow and stair type with malformed…

  12. A Longitudinal Study of Narrative Development in Children and Adolescents with Down Syndrome

    ERIC Educational Resources Information Center

    Cleave, Patricia; Bird, Elizabeth Kay-Raining; Czutrin, Rachael; Smith, Lindsey

    2012-01-01

    The present study examined narrative development in children and adolescents with Down syndrome longitudinally. Narratives were collected from 32 children and adolescents with Down syndrome three times over a 1-year period. Both micro- and macrolevel analyses were conducted. Significant growth over the 1-year period was seen in semantic complexity…

  13. Manifestations, Treatment Implications and Speech-Language Consideration in Gorlin Syndrome: A Case Study.

    ERIC Educational Resources Information Center

    Andrews, Alice E.; Stonestreet, Ruth H.

    This paper presents a case study of Gorlin Syndrome, also known as Basal Cell Nevus Syndrome, a rare genetic disorder characterized by widespread developmental defects. Criteria for diagnosis are listed, noting the presence of frequent basal cell carcinomas at a relatively young age and multiple cysts of the jaw. Speech and/or language impairments…

  14. A Pooled Genome-Wide Association Study of Asperger Syndrome.

    PubMed

    Warrier, Varun; Chakrabarti, Bhismadev; Murphy, Laura; Chan, Allen; Craig, Ian; Mallya, Uma; Lakatošová, Silvia; Rehnstrom, Karola; Peltonen, Leena; Wheelwright, Sally; Allison, Carrie; Fisher, Simon E; Baron-Cohen, Simon

    2015-01-01

    Asperger Syndrome (AS) is a neurodevelopmental condition characterized by impairments in social interaction and communication, alongside the presence of unusually repetitive, restricted interests and stereotyped behaviour. Individuals with AS have no delay in cognitive and language development. It is a subset of Autism Spectrum Conditions (ASC), which are highly heritable and has a population prevalence of approximately 1%. Few studies have investigated the genetic basis of AS. To address this gap in the literature, we performed a genome-wide pooled DNA association study to identify candidate loci in 612 individuals (294 cases and 318 controls) of Caucasian ancestry, using the Affymetrix GeneChip Human Mapping version 6.0 array. We identified 11 SNPs that had a p-value below 1x10-5. These SNPs were independently genotyped in the same sample. Three of the SNPs (rs1268055, rs7785891 and rs2782448) were nominally significant, though none remained significant after Bonferroni correction. Two of our top three SNPs (rs7785891 and rs2782448) lie in loci previously implicated in ASC. However, investigation of the three SNPs in the ASC genome-wide association dataset from the Psychiatric Genomics Consortium indicated that these three SNPs were not significantly associated with ASC. The effect sizes of the variants were modest, indicating that our study was not sufficiently powered to identify causal variants with precision.

  15. A Pooled Genome-Wide Association Study of Asperger Syndrome.

    PubMed

    Warrier, Varun; Chakrabarti, Bhismadev; Murphy, Laura; Chan, Allen; Craig, Ian; Mallya, Uma; Lakatošová, Silvia; Rehnstrom, Karola; Peltonen, Leena; Wheelwright, Sally; Allison, Carrie; Fisher, Simon E; Baron-Cohen, Simon

    2015-01-01

    Asperger Syndrome (AS) is a neurodevelopmental condition characterized by impairments in social interaction and communication, alongside the presence of unusually repetitive, restricted interests and stereotyped behaviour. Individuals with AS have no delay in cognitive and language development. It is a subset of Autism Spectrum Conditions (ASC), which are highly heritable and has a population prevalence of approximately 1%. Few studies have investigated the genetic basis of AS. To address this gap in the literature, we performed a genome-wide pooled DNA association study to identify candidate loci in 612 individuals (294 cases and 318 controls) of Caucasian ancestry, using the Affymetrix GeneChip Human Mapping version 6.0 array. We identified 11 SNPs that had a p-value below 1x10-5. These SNPs were independently genotyped in the same sample. Three of the SNPs (rs1268055, rs7785891 and rs2782448) were nominally significant, though none remained significant after Bonferroni correction. Two of our top three SNPs (rs7785891 and rs2782448) lie in loci previously implicated in ASC. However, investigation of the three SNPs in the ASC genome-wide association dataset from the Psychiatric Genomics Consortium indicated that these three SNPs were not significantly associated with ASC. The effect sizes of the variants were modest, indicating that our study was not sufficiently powered to identify causal variants with precision. PMID:26176695

  16. A Pooled Genome-Wide Association Study of Asperger Syndrome

    PubMed Central

    Warrier, Varun; Chakrabarti, Bhismadev; Murphy, Laura; Chan, Allen; Craig, Ian; Mallya, Uma; Lakatošová, Silvia; Rehnstrom, Karola; Wheelwright, Sally; Allison, Carrie; Fisher, Simon E.; Baron-Cohen, Simon

    2015-01-01

    Asperger Syndrome (AS) is a neurodevelopmental condition characterized by impairments in social interaction and communication, alongside the presence of unusually repetitive, restricted interests and stereotyped behaviour. Individuals with AS have no delay in cognitive and language development. It is a subset of Autism Spectrum Conditions (ASC), which are highly heritable and has a population prevalence of approximately 1%. Few studies have investigated the genetic basis of AS. To address this gap in the literature, we performed a genome-wide pooled DNA association study to identify candidate loci in 612 individuals (294 cases and 318 controls) of Caucasian ancestry, using the Affymetrix GeneChip Human Mapping version 6.0 array. We identified 11 SNPs that had a p-value below 1x10-5. These SNPs were independently genotyped in the same sample. Three of the SNPs (rs1268055, rs7785891 and rs2782448) were nominally significant, though none remained significant after Bonferroni correction. Two of our top three SNPs (rs7785891 and rs2782448) lie in loci previously implicated in ASC. However, investigation of the three SNPs in the ASC genome-wide association dataset from the Psychiatric Genomics Consortium indicated that these three SNPs were not significantly associated with ASC. The effect sizes of the variants were modest, indicating that our study was not sufficiently powered to identify causal variants with precision. PMID:26176695

  17. Predictability of childhood adiposity and insulin for developing insulin resistance syndrome (syndrome X) in young adulthood: the Bogalusa Heart Study.

    PubMed

    Srinivasan, Sathanur R; Myers, Leann; Berenson, Gerald S

    2002-01-01

    The occurrence of insulin resistance syndrome (syndrome X) is common in the general population. However, information is scant on the childhood predictors of syndrome X. This study examined the relative contribution of childhood adiposity and insulin to the adulthood risk of developing syndrome X in a biracial (black-white) community-based longitudinal cohort (n = 745; baseline age, 8-17 years; mean +/- SD follow-up period, 11.6 +/- 3.4 years). The four criterion risk variables considered were the highest quartile (specific for age, race, sex, and study year) of 1) BMI, 2) fasting insulin, 3) systolic or mean arterial blood pressure, and 4) total cholesterol to HDL cholesterol ratio or triglycerides to HDL cholesterol ratio. Clustering was defined as the combination of all four risk variables. In addition to the criterion risk variables, clustered adults had adverse levels of total cholesterol, triglycerides, LDL cholesterol, HDL cholesterol, diastolic blood pressure, and glucose compared with those who did not cluster (P < 0.001). Childhood variables, except glucose, showed adverse trends with increasing number of criterion risk variables present in adulthood (P for trend, 0.01-0.0001). The proportion of individuals who developed clustering as adults increased across childhood BMI (P for trend <0.0001) and insulin (P for trend <0.01) quartiles. The relationship to childhood BMI remained significant even after adjusting for childhood insulin. In contrast, corresponding association with childhood insulin disappeared after adjusting for childhood BMI. In a logistic regression model, childhood BMI and insulin were significant predictors of adulthood clustering, with BMI being the strongest and showing a curvilinear relationship. Using an insulin resistance index instead of insulin did not change the above findings. These results indicate that childhood obesity is a powerful predictor of development of syndrome X and underscore the importance of weight control early in

  18. Major congenital anomalies in babies born with Down syndrome: a EUROCAT population-based registry study.

    PubMed

    Morris, Joan K; Garne, Ester; Wellesley, Diana; Addor, Marie-Claude; Arriola, Larraitz; Barisic, Ingeborg; Beres, Judit; Bianchi, Fabrizio; Budd, Judith; Dias, Carlos Matias; Gatt, Miriam; Klungsoyr, Kari; Khoshnood, Babak; Latos-Bielenska, Anna; Mullaney, Carmel; Nelen, Vera; Neville, Amanda J; O'Mahony, Mary; Queisser-Luft, Annette; Randrianaivo, Hanitra; Rankin, Judith; Rissmann, Anke; Rounding, Cath; Sipek, Antonin; Stoianova, Sylvia; Tucker, David; de Walle, Hermien; Yevtushok, Lyubov; Loane, Maria; Dolk, Helen

    2014-12-01

    Previous studies have shown that over 40% of babies with Down syndrome have a major cardiac anomaly and are more likely to have other major congenital anomalies. Since 2000, many countries in Europe have introduced national antenatal screening programs for Down syndrome. This study aimed to determine if the introduction of these screening programs and the subsequent termination of prenatally detected pregnancies were associated with any decline in the prevalence of additional anomalies in babies born with Down syndrome. The study sample consisted of 7,044 live births and fetal deaths with Down syndrome registered in 28 European population-based congenital anomaly registries covering seven million births during 2000-2010. Overall, 43.6% (95% CI: 42.4-44.7%) of births with Down syndrome had a cardiac anomaly and 15.0% (14.2-15.8%) had a non-cardiac anomaly. Female babies with Down syndrome were significantly more likely to have a cardiac anomaly compared to male babies (47.6% compared with 40.4%, P < 0.001) and significantly less likely to have a non-cardiac anomaly (12.9% compared with 16.7%, P < 0.001). The prevalence of cardiac and non-cardiac congenital anomalies in babies with Down syndrome has remained constant, suggesting that population screening for Down syndrome and subsequent terminations has not influenced the prevalence of specific congenital anomalies in these babies.

  19. The Cri-Du-Chat Syndrome: A Case Study.

    ERIC Educational Resources Information Center

    Sykes, Stewart C.; Christie, Margarette A.

    1987-01-01

    The developmental history of a 14-year-old girl with Cri-Du-Chat Syndrome (a genetic disorder characterized by a distinctive cry and severe physical and intellectual disabilities) is reported. (Author/DB)

  20. Risk of Nephrotic Syndrome following Enteroviral Infection in Children: A Nationwide Retrospective Cohort Study

    PubMed Central

    Lin, Jiun-Nong; Lin, Cheng-Li; Yang, Chi-Hui; Lin, Ming-Chia; Lai, Chung-Hsu; Lin, Hsi-Hsun; Kao, Chia-Hung

    2016-01-01

    Purpose Nephrotic syndrome is a common chronic illness encountered during childhood. Infections have been identified as a cause of nephrotic syndrome. The aim of this study was to evaluate the association between enteroviral infection and nephrotic syndrome. Methods A nationwide retrospective cohort study was conducted by analyzing data from the National Health Insurance Research Database in Taiwan. Children aged <18 years with enteroviral infection were enrolled. Non-enterovirus-infected children were randomly selected as the comparison cohort. The primary endpoint was the occurrence of nephrotic syndrome. Methods This study included 280,087 enterovirus-infected children and 280,085 non-enterovirus-infected children. The mean age of the enterovirus-infected children was 2.38 years, and 53.7% of these children were boys. The overall incidence densities of nephrotic syndrome for enterovirus- and non-enterovirus-infected children were 2.65 and 2.21 per 10,000 person-years, respectively. The enterovirus-infected cohort had a higher cumulative incidence of nephrotic syndrome than did the non-enterovirus-infected cohort (log-rank test, p = 0.01). Multivariable analyses revealed that children with enteroviral infection were significantly associated with an increased risk of nephrotic syndrome compared with those without enteroviral infection (adjusted hazard ratio, 1.20; 95% confidence interval, 1.04–1.39; p = 0.01), particularly in children infected with coxsackievirus. Subgroup analyses revealed that enterovirus-infected girls, children of blue-collar workers, and children without allergies had a higher risk of nephrotic syndrome than did children in the non-enterovirus-infected cohort. Conclusion This study revealed a significant association between enteroviral infection and nephrotic syndrome. Additional studies elucidating the role and pathogenesis of enterovirus in nephrotic syndrome are warranted. PMID:27508414

  1. Understanding medical students' views of chronic fatigue syndrome: a qualitative study.

    PubMed

    Stenhoff, Alexandra Laura; Sadreddini, Shireen; Peters, Sarah; Wearden, Alison

    2015-02-01

    Chronic fatigue syndrome receives little attention in the medical curriculum. This study explores UK medical students' knowledge of and attitudes towards chronic fatigue syndrome. Semi-structured interviews (average length 22 minutes) were conducted with 21 participants (7 females and 14 males) in years 3 (n = 4), 4 (n = 11) and 5 (n = 6) of their studies. Inductive thematic analysis taking a realist perspective produced three themes: limited knowledge, influences on attitudes and training needs. Students acquired their knowledge and attitudes largely from informal sources and expressed difficulty understanding chronic fatigue syndrome within a traditional biomedical framework. Incorporating teaching about chronic fatigue syndrome into the medical curriculum within the context of a biopsychosocial understanding of illness could encourage more positive attitudes towards chronic fatigue syndrome.

  2. Kabuki syndrome: a review study of three hundred patients.

    PubMed

    Wessels, Marja W; Brooks, Alice S; Hoogeboom, Jeannette; Niermeijer, Martinus F; Willems, Patrick J

    2002-04-01

    The Kabuki (make-up) syndrome identified in 1981 has been reported in more than three hundred patients. Typical findings include mild to moderate mental retardation, fetal pads, cleft palate, and characteristic facies with long palpebral fissures, everted lower lateral eyelids and arched eyebrows. Postnatal growth retardation, skeletal and visceral anomalies are present in a large percentage of patients. We review here the characteristics of this peculiar syndrome in three hundred patients. PMID:12002156

  3. Chromosome banding studies in two patients with XXXXY syndrome.

    PubMed Central

    Levy, C L; Sparkes, R S; Carlson, H E

    1978-01-01

    In 2 adult male patients with 49 chromosomes, an XXXXY sex chromosome constitution was confirmed by trypsin-Giemsa banding sites. Clinical findings as well as fingerprint ridge counts were typical of the syndrome. Primary hypogonadism was documented by finding low serum testosterone and raised serum LH and FSH levels. Several radiological abnormalities, not previously described in this syndrome, were seen in 1 patient. Images PMID:568665

  4. Cognitive behavior therapy for night eating syndrome: a pilot study.

    PubMed

    Allison, Kelly C; Lundgren, Jennifer D; Moore, Reneé H; O'Reardon, John P; Stunkard, Albert J

    2010-01-01

    Because no studies of psychotherapy treatments for night eating syndrome (NES) have been published, we conducted a pilot study of a 10-session cognitive behavior therapy (CBT) for NES. Twenty-five patients (19 female, 6 male) were screened and comprehensively assessed before being enrolled. At each visit, patients completed the Night Eating Symptom Scale (NESS), were weighed, and number of awakenings and the number of nocturnal ingestions and daily caloric intake were calculated from weekly food and sleep records. Mixed model regression analyses [of the data] showed significant decreases in caloric intake after dinner (35.0% to 24.9%); number of nocturnal ingestions (8.7 to 2.6 per week); weight (82.5 to 79.4 kg); and NESS score (28.7 to 16.3; all p values <0.0001). Number of awakenings per week, depressed mood, and quality of life also improved significantly (p values <.02). This first clinical trial of CBT for NES shows significant improvements in the core aspects of NES and weight reduction, suggesting the need for a controlled treatment trial.

  5. Cognitive behavior therapy for night eating syndrome: a pilot study.

    PubMed

    Allison, Kelly C; Lundgren, Jennifer D; Moore, Reneé H; O'Reardon, John P; Stunkard, Albert J

    2010-01-01

    Because no studies of psychotherapy treatments for night eating syndrome (NES) have been published, we conducted a pilot study of a 10-session cognitive behavior therapy (CBT) for NES. Twenty-five patients (19 female, 6 male) were screened and comprehensively assessed before being enrolled. At each visit, patients completed the Night Eating Symptom Scale (NESS), were weighed, and number of awakenings and the number of nocturnal ingestions and daily caloric intake were calculated from weekly food and sleep records. Mixed model regression analyses [of the data] showed significant decreases in caloric intake after dinner (35.0% to 24.9%); number of nocturnal ingestions (8.7 to 2.6 per week); weight (82.5 to 79.4 kg); and NESS score (28.7 to 16.3; all p values <0.0001). Number of awakenings per week, depressed mood, and quality of life also improved significantly (p values <.02). This first clinical trial of CBT for NES shows significant improvements in the core aspects of NES and weight reduction, suggesting the need for a controlled treatment trial. PMID:20405767

  6. Herbal Medicines and Ovarian Hyperstimulation Syndrome: A Retrospective Cohort Study

    PubMed Central

    Rasekhjahromi, Athar; Alipour, Farzaneh; Maalhagh, Mehrnoosh; Sobhanian, Saeed

    2016-01-01

    Background. The aim of this study was to assess the association between herbal medication and OHSS. Methods. This retrospective cohort study was conducted with 101 polycystic ovary syndrome patients. 66 patients took conventional pharmacological medications and 35 took herbal medications. Data were analyzed by statistical test including Fisher's Exact and binominal logistic regression. P < 0.05 was considered significant. Results. Of the 101 females, 53 were married and 48 were single. There was no significant association between the groups in marriage. No significant association was found in mean age between the two groups (23.9 ± 5.8 years in the control group versus 26.3 ± 6.7 years in the case group). There was a significant difference between the two groups .After adding the dependent (OHSS prevalence) and independent (marriage and group) variables into the model, the Hosmer-Lemeshow test showed suitability. Variances analyzed with this model ranged between 29.4% and 40.7%. Conclusion. The indiscriminate use of herbs is correlated with OHSS. Because patients increasingly consume herbs, they should be aware of potential side effects. However, appropriate dosages of herbs could be obtained for use instead of conventional treatments, which often have side effects. PMID:27688772

  7. Acupuncture and burning mouth syndrome: a pilot study.

    PubMed

    Sardella, Andrea; Lodi, Giovanni; Tarozzi, Marco; Varoni, Elena; Franchini, Roberto; Carrassi, Antonio

    2013-11-01

    Burning mouth syndrome (BMS) is a chronic condition most common in middle-aged and elderly women, with prevalence rates in the general population ranging from 0.5% to 5%. Defined by the International Headache Society as "an intraoral burning sensation for which no medical or dental cause can be found," BMS is considered a form of neuropathic pain. The management of BMS remains unsatisfactory. In this pilot study, we investigated the use of acupuncture in a small group of BMS patients. The study group, after 4 refusals, was composed of 10 BMS patients (9 females and 1 male; mean age, 65.2 years; range, from 48 to 80 years; mean duration of BMS, 2.6 years; SD ± 0.8 years). Oral pain/burning sensation (primary outcome) was measured using a visual analogue scale (VAS). Health-related quality of life (secondary outcome) was measured using the 36-item Short-Form Health Survey (SF-36). Acupuncture treatment lasted 8 weeks and consisted of 20 sessions. Patients reported a mean reduction in pain of 0.99 points on the VAS (max 2.1-min 0.1), which, although slight, was statistically significant (Wilcoxon test P < 0.009). No significant improvement in the overall score for quality of life was observed, although subjects receiving acupuncture treatment seemed better able cope with their oral symptoms. PMID:23336607

  8. Genetic Counseling of Adults with Williams Syndrome: A First Study

    PubMed Central

    Farwig, Katrina; Harmon, Amanda G.; Fontana, Kristina M.; Mervis, Carolyn B.; Morris, Colleen A.

    2010-01-01

    We report on a study of genetic counseling to 43 adults with Williams syndrome (WS). Participants were initially asked what they knew about how WS occurs. Genetic counseling was provided with a focus on the basic genetics of WS, recurrence risk, and on participants’ attitudes toward socio-cultural topics. Forty nine % indicated they would be okay or happy if their baby had WS, 44% said they would be sad or upset, and 5% were unsure. The sad/upset group was significantly older than the okay/happy group and a significantly higher proportion of the former group indicated they did not plan to have children. During the post counseling session participants were questioned to determine if they recalled the facts previously presented. Eighy one % correctly gave the odds that their child would have WS. Fifty three % considered the 50-50 odds to be a high chance. After genetic counseling, 61% were able to state something that had been taught, and 88% indicated they would want to test their baby for WS before birth. Ninety eight% would recommend genetic counseling to others. Findings indicate that based on the type of genetic counseling provided in this study, the majority of individuals with WS—a genetic disorder associated with intellectual disability but with relative strengths in (concrete) language and in verbal rote memory—are able to learn simple facts about the genetics of WS and are eager to respond to socio-cultural questions regarding topics typically included in genetic counseling sessions. PMID:20425790

  9. Genome-wide association study of Tourette Syndrome

    PubMed Central

    Scharf, Jeremiah M.; Yu, Dongmei; Mathews, Carol A.; Neale, Benjamin M.; Stewart, S. Evelyn; Fagerness, Jesen A; Evans, Patrick; Gamazon, Eric; Edlund, Christopher K.; Service, Susan; Tikhomirov, Anna; Osiecki, Lisa; Illmann, Cornelia; Pluzhnikov, Anna; Konkashbaev, Anuar; Davis, Lea K; Han, Buhm; Crane, Jacquelyn; Moorjani, Priya; Crenshaw, Andrew T.; Parkin, Melissa A.; Reus, Victor I.; Lowe, Thomas L.; Rangel-Lugo, Martha; Chouinard, Sylvain; Dion, Yves; Girard, Simon; Cath, Danielle C; Smit, Jan H; King, Robert A.; Fernandez, Thomas; Leckman, James F.; Kidd, Kenneth K.; Kidd, Judith R.; Pakstis, Andrew J.; State, Matthew; Herrera, Luis Diego; Romero, Roxana; Fournier, Eduardo; Sandor, Paul; Barr, Cathy L; Phan, Nam; Gross-Tsur, Varda; Benarroch, Fortu; Pollak, Yehuda; Budman, Cathy L.; Bruun, Ruth D.; Erenberg, Gerald; Naarden, Allan L; Lee, Paul C; Weiss, Nicholas; Kremeyer, Barbara; Berrío, Gabriel Bedoya; Campbell, Desmond; Silgado, Julio C. Cardona; Ochoa, William Cornejo; Restrepo, Sandra C. Mesa; Muller, Heike; Duarte, Ana V. Valencia; Lyon, Gholson J; Leppert, Mark; Morgan, Jubel; Weiss, Robert; Grados, Marco A.; Anderson, Kelley; Davarya, Sarah; Singer, Harvey; Walkup, John; Jankovic, Joseph; Tischfield, Jay A.; Heiman, Gary A.; Gilbert, Donald L.; Hoekstra, Pieter J.; Robertson, Mary M.; Kurlan, Roger; Liu, Chunyu; Gibbs, J. Raphael; Singleton, Andrew; Hardy, John; Strengman, Eric; Ophoff, Roel; Wagner, Michael; Moessner, Rainald; Mirel, Daniel B.; Posthuma, Danielle; Sabatti, Chiara; Eskin, Eleazar; Conti, David V.; Knowles, James A.; Ruiz-Linares, Andres; Rouleau, Guy A.; Purcell, Shaun; Heutink, Peter; Oostra, Ben A.; McMahon, William; Freimer, Nelson; Cox, Nancy J.; Pauls, David L.

    2012-01-01

    Tourette Syndrome (TS) is a developmental disorder that has one of the highest familial recurrence rates among neuropsychiatric diseases with complex inheritance. However, the identification of definitive TS susceptibility genes remains elusive. Here, we report the first genome-wide association study (GWAS) of TS in 1285 cases and 4964 ancestry-matched controls of European ancestry, including two European-derived population isolates, Ashkenazi Jews from North America and Israel, and French Canadians from Quebec, Canada. In a primary meta-analysis of GWAS data from these European ancestry samples, no markers achieved a genome-wide threshold of significance (p<5 × 10−8); the top signal was found in rs7868992 on chromosome 9q32 within COL27A1 (p=1.85 × 10−6). A secondary analysis including an additional 211 cases and 285 controls from two closely-related Latin-American population isolates from the Central Valley of Costa Rica and Antioquia, Colombia also identified rs7868992 as the top signal (p=3.6 × 10−7 for the combined sample of 1496 cases and 5249 controls following imputation with 1000 Genomes data). This study lays the groundwork for the eventual identification of common TS susceptibility variants in larger cohorts and helps to provide a more complete understanding of the full genetic architecture of this disorder. PMID:22889924

  10. Cytogenetic and molecular studies of down syndrome individual with leukemia

    SciTech Connect

    Shen, J.J.; Hassold, T.J.; Williams, B.J.; Zupursky, A.; Doyle, J.; Sherman, S.L.; Jacobs, P.A.; Shugar, A.L.; Soukup, S.W.

    1995-04-01

    There is an increased risk of leukemia in Down syndrome (DS) patients, with estimates ranging from 14 to 30 times the incidence rate observed for chromosomally normal children. Furthermore, one type of leukemia, called {open_quotes}transient leukemia{close_quotes} (TL), occurs almost exclusively in DS infants. The basis of the association between DS and leukemia is unknown, but we and others have hypothesized that it may be influenced by the mechanism of origin of the extra chromosome. Therefore, we initiated a cytogenetic and molecular study of nondisjunction in leukemic DS individuals. To date, we have obtained blood and/or tissue samples from 55 individuals consisting of 17 cases with TL, 7 cases of acute nonlymphocytic leukemia subtype M7 (ANLL-M7, or acute megakaryoblastic leukemia, postulated to be related to TL), and 31 cases of other forms of leukemia. Analysis of these cases suggests differences between DS children with TL and those with other types of leukemia or DS individuals with no history of leukemia. Specifically, the TL and ANLL-M7 cases have a highly significant increase in the frequency of {open_quotes}atypical{close_quotes} constitutional karyotypes (i.e., mosaic trisomies, rings, and/or isochromosomes) and are almost always male. Additionally, genetic mapping studies suggest an increase in the frequency of disomic homozygosity, especially in proximal 21q, in DS individuals with TL and ANLL-M7. 19 refs., 3 figs., 4 tabs.

  11. Genome-wide association study of Tourette's syndrome.

    PubMed

    Scharf, J M; Yu, D; Mathews, C A; Neale, B M; Stewart, S E; Fagerness, J A; Evans, P; Gamazon, E; Edlund, C K; Service, S K; Tikhomirov, A; Osiecki, L; Illmann, C; Pluzhnikov, A; Konkashbaev, A; Davis, L K; Han, B; Crane, J; Moorjani, P; Crenshaw, A T; Parkin, M A; Reus, V I; Lowe, T L; Rangel-Lugo, M; Chouinard, S; Dion, Y; Girard, S; Cath, D C; Smit, J H; King, R A; Fernandez, T V; Leckman, J F; Kidd, K K; Kidd, J R; Pakstis, A J; State, M W; Herrera, L D; Romero, R; Fournier, E; Sandor, P; Barr, C L; Phan, N; Gross-Tsur, V; Benarroch, F; Pollak, Y; Budman, C L; Bruun, R D; Erenberg, G; Naarden, A L; Lee, P C; Weiss, N; Kremeyer, B; Berrío, G B; Campbell, D D; Cardona Silgado, J C; Ochoa, W C; Mesa Restrepo, S C; Muller, H; Valencia Duarte, A V; Lyon, G J; Leppert, M; Morgan, J; Weiss, R; Grados, M A; Anderson, K; Davarya, S; Singer, H; Walkup, J; Jankovic, J; Tischfield, J A; Heiman, G A; Gilbert, D L; Hoekstra, P J; Robertson, M M; Kurlan, R; Liu, C; Gibbs, J R; Singleton, A; Hardy, J; Strengman, E; Ophoff, R A; Wagner, M; Moessner, R; Mirel, D B; Posthuma, D; Sabatti, C; Eskin, E; Conti, D V; Knowles, J A; Ruiz-Linares, A; Rouleau, G A; Purcell, S; Heutink, P; Oostra, B A; McMahon, W M; Freimer, N B; Cox, N J; Pauls, D L

    2013-06-01

    Tourette's syndrome (TS) is a developmental disorder that has one of the highest familial recurrence rates among neuropsychiatric diseases with complex inheritance. However, the identification of definitive TS susceptibility genes remains elusive. Here, we report the first genome-wide association study (GWAS) of TS in 1285 cases and 4964 ancestry-matched controls of European ancestry, including two European-derived population isolates, Ashkenazi Jews from North America and Israel and French Canadians from Quebec, Canada. In a primary meta-analysis of GWAS data from these European ancestry samples, no markers achieved a genome-wide threshold of significance (P<5 × 10(-8)); the top signal was found in rs7868992 on chromosome 9q32 within COL27A1 (P=1.85 × 10(-6)). A secondary analysis including an additional 211 cases and 285 controls from two closely related Latin American population isolates from the Central Valley of Costa Rica and Antioquia, Colombia also identified rs7868992 as the top signal (P=3.6 × 10(-7) for the combined sample of 1496 cases and 5249 controls following imputation with 1000 Genomes data). This study lays the groundwork for the eventual identification of common TS susceptibility variants in larger cohorts and helps to provide a more complete understanding of the full genetic architecture of this disorder.

  12. Neurofeedback training for tourette syndrome: an uncontrolled single case study.

    PubMed

    Messerotti Benvenuti, Simone; Buodo, Giulia; Leone, Valentino; Palomba, Daniela

    2011-12-01

    Gilles de la Tourette syndrome (TS) is characterized by motor and vocal tic manifestations, often accompanied by behavioral, cognitive and affective dysfunctions. Electroencephalography of patients with TS has revealed reduced Sensorimotor Rhythm (SMR) and excessive fronto-central Theta activity, that presumably underlie motor and cognitive disturbances in TS. Some evidence exists that neurofeedback (NFB) training aimed at enhancing SMR amplitude is effective for reducing tics. The present report is an uncontrolled single case study where a NFB training protocol, involving combined SMR uptraining/Theta downtraining was delivered to a 17-year-old male with TS. After sixteen SMR-Theta sessions, six additional sessions were administered with SMR uptraining alone. SMR increase was better obtained when SMR uptraining was administered alone, whereas Theta decrease was observed after both trainings. The patient showed a reduction of tics and affective symptoms, and improvement of cognitive performance after both trainings. Overall, these findings suggest that Theta decrease might account for some clinical effects seen in conjunction with SMR uptraining. Future studies should clarify the feasibility of NFB protocols for patients with TS beyond SMR uptraining alone. PMID:21915704

  13. Herbal Medicines and Ovarian Hyperstimulation Syndrome: A Retrospective Cohort Study.

    PubMed

    Rasekhjahromi, Athar; Hosseinpoor, Masoumeh; Alipour, Farzaneh; Maalhagh, Mehrnoosh; Sobhanian, Saeed

    2016-01-01

    Background. The aim of this study was to assess the association between herbal medication and OHSS. Methods. This retrospective cohort study was conducted with 101 polycystic ovary syndrome patients. 66 patients took conventional pharmacological medications and 35 took herbal medications. Data were analyzed by statistical test including Fisher's Exact and binominal logistic regression. P < 0.05 was considered significant. Results. Of the 101 females, 53 were married and 48 were single. There was no significant association between the groups in marriage. No significant association was found in mean age between the two groups (23.9 ± 5.8 years in the control group versus 26.3 ± 6.7 years in the case group). There was a significant difference between the two groups .After adding the dependent (OHSS prevalence) and independent (marriage and group) variables into the model, the Hosmer-Lemeshow test showed suitability. Variances analyzed with this model ranged between 29.4% and 40.7%. Conclusion. The indiscriminate use of herbs is correlated with OHSS. Because patients increasingly consume herbs, they should be aware of potential side effects. However, appropriate dosages of herbs could be obtained for use instead of conventional treatments, which often have side effects. PMID:27688772

  14. Herbal Medicines and Ovarian Hyperstimulation Syndrome: A Retrospective Cohort Study

    PubMed Central

    Rasekhjahromi, Athar; Alipour, Farzaneh; Maalhagh, Mehrnoosh; Sobhanian, Saeed

    2016-01-01

    Background. The aim of this study was to assess the association between herbal medication and OHSS. Methods. This retrospective cohort study was conducted with 101 polycystic ovary syndrome patients. 66 patients took conventional pharmacological medications and 35 took herbal medications. Data were analyzed by statistical test including Fisher's Exact and binominal logistic regression. P < 0.05 was considered significant. Results. Of the 101 females, 53 were married and 48 were single. There was no significant association between the groups in marriage. No significant association was found in mean age between the two groups (23.9 ± 5.8 years in the control group versus 26.3 ± 6.7 years in the case group). There was a significant difference between the two groups .After adding the dependent (OHSS prevalence) and independent (marriage and group) variables into the model, the Hosmer-Lemeshow test showed suitability. Variances analyzed with this model ranged between 29.4% and 40.7%. Conclusion. The indiscriminate use of herbs is correlated with OHSS. Because patients increasingly consume herbs, they should be aware of potential side effects. However, appropriate dosages of herbs could be obtained for use instead of conventional treatments, which often have side effects.

  15. Herbal Medicines and Ovarian Hyperstimulation Syndrome: A Retrospective Cohort Study.

    PubMed

    Rasekhjahromi, Athar; Hosseinpoor, Masoumeh; Alipour, Farzaneh; Maalhagh, Mehrnoosh; Sobhanian, Saeed

    2016-01-01

    Background. The aim of this study was to assess the association between herbal medication and OHSS. Methods. This retrospective cohort study was conducted with 101 polycystic ovary syndrome patients. 66 patients took conventional pharmacological medications and 35 took herbal medications. Data were analyzed by statistical test including Fisher's Exact and binominal logistic regression. P < 0.05 was considered significant. Results. Of the 101 females, 53 were married and 48 were single. There was no significant association between the groups in marriage. No significant association was found in mean age between the two groups (23.9 ± 5.8 years in the control group versus 26.3 ± 6.7 years in the case group). There was a significant difference between the two groups .After adding the dependent (OHSS prevalence) and independent (marriage and group) variables into the model, the Hosmer-Lemeshow test showed suitability. Variances analyzed with this model ranged between 29.4% and 40.7%. Conclusion. The indiscriminate use of herbs is correlated with OHSS. Because patients increasingly consume herbs, they should be aware of potential side effects. However, appropriate dosages of herbs could be obtained for use instead of conventional treatments, which often have side effects.

  16. A study of migraine characteristics in joint hypermobility syndrome a.k.a. Ehlers-Danlos syndrome, hypermobility type.

    PubMed

    Puledda, Francesca; Viganò, Alessandro; Celletti, Claudia; Petolicchio, Barbara; Toscano, Massimiliano; Vicenzini, Edoardo; Castori, Marco; Laudani, Guido; Valente, Donatella; Camerota, Filippo; Di Piero, Vittorio

    2015-08-01

    Joint hypermobility syndrome (JHS) and Ehlers-Danlos syndrome, hypermobility type (EDS-HT) are two clinically overlapping heritable connective tissue disorders strongly associated with musculoskeletal pain, fatigue and headache. Migraine with or without aura is considered the most common form of headache in JHS/EDS-HT. In this population of chronically ill patients, we investigated whether migraine characteristics were different from those of a control population of migraine patients. The study was carried out on 33 selected JHS/EDS-HT patients, diagnosed according to current criteria. Sixty-six migraine subjects matching age and gender were consecutively selected as controls (MO group) among patients attending our Headache Clinic. JHS/EDS-HT and MO were screened for a series of headache characteristics, such as frequency, intensity, age of onset, level of disability, use of rescue and prophylactic medications. Differences between the two groups were tested by using independent group comparisons. Results showed that in JHS/EDS-HT: (1) migraine has an earlier onset (12.6 vs 17 years of age; p = 0.005); (2) the rate of migraine days/month is higher (15 vs 9.3 days/month; p = 0.01); (3) accompanying symptoms are usually more frequent; (4) HIT-6 and MIDAS scores are higher (p = 0.04 and p = 0.03); (5) efficacy of rescue medication is almost identical, although, total drug consumption is significantly lower (p < 0.04). Joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type patients have a more severe headache syndrome with respect to the MO group, therefore demonstrating that migraine has a very high impact on quality of life in this disease.

  17. A study of migraine characteristics in joint hypermobility syndrome a.k.a. Ehlers-Danlos syndrome, hypermobility type.

    PubMed

    Puledda, Francesca; Viganò, Alessandro; Celletti, Claudia; Petolicchio, Barbara; Toscano, Massimiliano; Vicenzini, Edoardo; Castori, Marco; Laudani, Guido; Valente, Donatella; Camerota, Filippo; Di Piero, Vittorio

    2015-08-01

    Joint hypermobility syndrome (JHS) and Ehlers-Danlos syndrome, hypermobility type (EDS-HT) are two clinically overlapping heritable connective tissue disorders strongly associated with musculoskeletal pain, fatigue and headache. Migraine with or without aura is considered the most common form of headache in JHS/EDS-HT. In this population of chronically ill patients, we investigated whether migraine characteristics were different from those of a control population of migraine patients. The study was carried out on 33 selected JHS/EDS-HT patients, diagnosed according to current criteria. Sixty-six migraine subjects matching age and gender were consecutively selected as controls (MO group) among patients attending our Headache Clinic. JHS/EDS-HT and MO were screened for a series of headache characteristics, such as frequency, intensity, age of onset, level of disability, use of rescue and prophylactic medications. Differences between the two groups were tested by using independent group comparisons. Results showed that in JHS/EDS-HT: (1) migraine has an earlier onset (12.6 vs 17 years of age; p = 0.005); (2) the rate of migraine days/month is higher (15 vs 9.3 days/month; p = 0.01); (3) accompanying symptoms are usually more frequent; (4) HIT-6 and MIDAS scores are higher (p = 0.04 and p = 0.03); (5) efficacy of rescue medication is almost identical, although, total drug consumption is significantly lower (p < 0.04). Joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type patients have a more severe headache syndrome with respect to the MO group, therefore demonstrating that migraine has a very high impact on quality of life in this disease. PMID:25791889

  18. Brain functional networks in syndromic and non-syndromic autism: a graph theoretical study of EEG connectivity

    PubMed Central

    2013-01-01

    Background Graph theory has been recently introduced to characterize complex brain networks, making it highly suitable to investigate altered connectivity in neurologic disorders. A current model proposes autism spectrum disorder (ASD) as a developmental disconnection syndrome, supported by converging evidence in both non-syndromic and syndromic ASD. However, the effects of abnormal connectivity on network properties have not been well studied, particularly in syndromic ASD. To close this gap, brain functional networks of electroencephalographic (EEG) connectivity were studied through graph measures in patients with Tuberous Sclerosis Complex (TSC), a disorder with a high prevalence of ASD, as well as in patients with non-syndromic ASD. Methods EEG data were collected from TSC patients with ASD (n = 14) and without ASD (n = 29), from patients with non-syndromic ASD (n = 16), and from controls (n = 46). First, EEG connectivity was characterized by the mean coherence, the ratio of inter- over intra-hemispheric coherence and the ratio of long- over short-range coherence. Next, graph measures of the functional networks were computed and a resilience analysis was conducted. To distinguish effects related to ASD from those related to TSC, a two-way analysis of covariance (ANCOVA) was applied, using age as a covariate. Results Analysis of network properties revealed differences specific to TSC and ASD, and these differences were very consistent across subgroups. In TSC, both with and without a concurrent diagnosis of ASD, mean coherence, global efficiency, and clustering coefficient were decreased and the average path length was increased. These findings indicate an altered network topology. In ASD, both with and without a concurrent diagnosis of TSC, decreased long- over short-range coherence and markedly increased network resilience were found. Conclusions The altered network topology in TSC represents a functional correlate of structural abnormalities and may play a

  19. Spatial competences in Williams syndrome: a radial arm maze study.

    PubMed

    Mandolesi, L; Addona, F; Foti, F; Menghini, D; Petrosini, L; Vicari, S

    2009-05-01

    This study was aimed at evaluating spatial function in subjects with Williams syndrome by using the radial arm maze task and comparing their spatial abilities with those of mental age-matched control subjects. Two different paradigms were administered: the free-choice version for analyzing the aspects linked mainly to procedural and mnesic components, the forced-choice version for disentangling components linked to spatial working memory from the procedural ones. The findings evidenced a deficit in the acquisition of procedural competences as well as in the spatial memory processes in Williams subjects. In the free-choice paradigm, they performed worse than control subjects on all parameters analyzed. Namely, they needed more time to complete the task, did not collect all rewards, exhibited low values of the spatial span as well as low percentages of correct visits, and displayed a reduced use of the most efficient exploration strategies. Even in the forced-choice paradigm, Williams subjects made a number of errors significantly higher than control subjects. The marked impairment in spatial information processing is discussed on the light of neuro-anatomical alterations reported in Williams subjects.

  20. Management of dengue shock syndrome. A prospective study.

    PubMed

    Tjandra, H

    1991-01-01

    Since dengue hemorrhagic fever (DHF) was first reported 20 years ago, the only serious variant of the disease, dengue shock syndrome (DSS), still continues to cause a relatively high mortality. An effective yet simple management of DSS which can be carried out in every hospital is certainly necessary if the dead toll is to be reduced. Prospective study of a simple procedure in managing DSS patients in Bhayangkara Police Hospital Kediri is reported. Depends on the severity of the disease, for DHF grade III: 30 ml/kg bw Lactated-Ringer solution was given at free rate. This is followed by 20 ml/kg bw of synthetic plasma expander (Expafusin) in a rate of thrice the body weight and continued with lactated-ringer and 5% dextrose in 1/2 Saline alternately with a rate of twice the body weight per minute for the remaining first 24 hours. For DHF grade IV, the same fluids were given, except for the amount and the infusion rate. Drugs administered and medical care were all the same for both groups. A close observation, a critical assessment, and an accurate as well as a rapid action are very important factors. Totally there were 115 patients of which 8 died. The mortality rate was 7%. A better management and/or treatment has to be developed to further reduce the mortality.

  1. A Longitudinal Follow-Up Study of Affect in Children and Adults with Cornelia de Lange Syndrome

    ERIC Educational Resources Information Center

    Nelson, Lisa; Moss, Jo; Oliver, Chris

    2014-01-01

    Studies of individuals with Cornelia de Lange syndrome (CdLS) have described changes in mood and behavior with age, although no empirical or longitudinal studies have been conducted. Caregivers of individuals with CdLS (N = 67), cri du chat syndrome (CdCS; N = 42), and Fragile X syndrome (FXS; N = 142) completed the Mood, Interest and Pleasure…

  2. Seizures as an Atypical Feature of Beal's Syndrome.

    PubMed

    Jaman, Nazreen B K; Al-Sayegh, Abeer

    2016-08-01

    Congenital contractural arachnodactyly, commonly known as Beal's syndrome, is an extremely rare genetic disorder caused by mutations in the fibrillin-2 (FBN2) gene located on chromosome 5q23. It is an autosomal dominant inherited connective tissue disorder characterised by a Marfan-like body habitus, contractures, abnormally shaped ears and kyphoscoliosis. We report a seven-year-old Omani male who presented to the Sultan Qaboos University Hospital, Muscat, Oman, in 2014 with seizures. He was noted to have certain distinctive facial features and musculoskeletal manifestations; he was subsequently diagnosed with Beal's syndrome. Sequencing of the FBN2 gene revealed that the patient had a novel mutation which was also present in his mother; however, she had only a few facial features indicative of Beal's syndrome and no systemic involvement apart from a history of childhood seizures. To the best of the authors' knowledge, this is the first report of Beal's syndrome with seizure symptoms as a potential feature. PMID:27606123

  3. Audiological findings in Williams syndrome: a study of 69 patients.

    PubMed

    Barozzi, Stefania; Soi, Daniela; Comiotto, Elisabetta; Borghi, Anna; Gavioli, Chiara; Spreafico, Emanuela; Gagliardi, Chiara; Selicorni, Angelo; Forti, Stella; Ambrosetti, Umberto; Cesarani, Antonio; Brambilla, Daniele

    2012-04-01

    The aim of this study was to investigate, in a clinical setting, the auditory function of a group of individuals affected by Williams syndrome (WS). Sixty-nine patients with WS, aged 2-30, underwent comprehensive audiological testing including air/bone conduction behavioral audiometry, speech audiometry, tympanometry and measurement of the acoustic reflex, transient evoked otoacoustic emissions and brainstem auditory evoked responses. Hearing loss, defined by a pure-tone average above 15 dB HL, affected 22.6% of the patients studied with traditional audiometry and was mostly slight in severity. Hearing loss was conductive in 9.4% of patients, mainly children with otitis media with effusion, and sensorineural in 13.2% of patients. However, 30% of the ears studied had a hearing impairment in the high frequency range (high-frequency pure-tone audiometry above 15 dB HL), higher in participants above 15 years (46.15%) than in the younger ones (23.45%). Contralateral stapedial reflexes were present in all patients with A-type tympanograms. Transient otoacoustic emissions were absent in 44% of the ears of patients with normal hearing. Brainstem auditory evoked responses fell within normal ranges thus confirming the absence of retrocochlear dysfunction. Although hearing loss does not seem to be frequent, a cochlear fragility, especially in the high frequency range, related to outer hair cells is characteristic of WS. Therefore we strongly recommend monitoring patients affected by WS using annual audiometric tests and performing otoacoustic emissions in order to identify a subclinical cochlear dysfunction which might benefit from an audiological follow up before the possible onset of hearing loss. PMID:22411878

  4. Early epileptic encephalopathies including West syndrome: a 3-year retrospective study from Klang Hospital, Malaysia.

    PubMed

    Thambyayah, M

    2001-11-01

    It is difficult to give a country report from Malaysia. A study done in 1999 reported the incidence of West Syndrome to be 3% among newly diagnosed cases of epilepsy. In this 3 year retrospective hospital-based study (1997-1999), the prevalence of early epileptic encephalopathy (EEE) and West Syndrome were 4.1 and 2.5% respectively. There is difficulty classifying EEE cases into distinct sub-groups of EIEE (early infantile epileptic encephalopathy), WS (West Syndrome) and SMEI (severe myoclonic epilepsy of infancy), using a combination of clinical features, EEG and CT/MRI findings.

  5. A Comparative Study of Cognition and Brain Anatomy between Two Neurodevelopmental Disorders: 22q11.2 Deletion Syndrome and Williams Syndrome

    ERIC Educational Resources Information Center

    Campbell, Linda E.; Stevens, Angela; Daly, Eileen; Toal, Fiona; Azuma, Rayna; Karmiloff-Smith, Annette; Murphy, Declan G. M.; Murphy, Kieran C.

    2009-01-01

    Background: 22q11.2 deletion syndrome (22q11DS) is associated with intellectual disability, poor social interaction and a high prevalence of psychosis. However, to date there have been no studies comparing cognition and neuroanatomical characteristics of 22q11DS with other syndromes to investigate if the cognitive strengths and difficulties and…

  6. Syndrome of endemic arsenism and fluorosis. A clinical study.

    PubMed

    Huang, Y Z; Qian, X C; Wang, G Q; Gu, Y L; Wang, S Z; Cheng, Z H; Xiao, B Y; Gang, J M; Wu, J Y; Kan, M Y

    1992-07-01

    Sixty-five patients in Xinjiang with syndrome of endemic arsenism and fluorosis (SEAF) were investigated clinically from March 1982 to August 1989. SEAF is a kind of chronic syndrome resulting from the combined, harmful effects of two trace elements, arsenic and fluorine. Peripheral neuritis and cardiovascular changes were observed in this syndrome more often than in simple arsenism or simple fluorosis. The excessive quantities of these two trace elements in blood might have a synergic, harmful effect on the nervous and circulatory systems. No definite conclusion could be reached with regard to the morbidity of skin and visceral tumors in this series. The incidence of associated skin cancer was found to be 7.7% and an associated Grade II squamous cell carcinoma of the esophagus was encountered in one patient.

  7. Genome-Wide Association Study of Metabolic Syndrome in Koreans

    PubMed Central

    Jeong, Seok Won; Chung, Myungguen; Park, Soo-Jung; Cho, Seong Beom

    2014-01-01

    Metabolic syndrome (METS) is a disorder of energy utilization and storage and increases the risk of developing cardiovascular disease and diabetes. To identify the genetic risk factors of METS, we carried out a genome-wide association study (GWAS) for 2,657 cases and 5,917 controls in Korean populations. As a result, we could identify 2 single nucleotide polymorphisms (SNPs) with genome-wide significance level p-values (<5 × 10-8), 8 SNPs with genome-wide suggestive p-values (5 × 10-8 ≤ p < 1 × 10-5), and 2 SNPs of more functional variants with borderline p-values (5 × 10-5 ≤ p < 1 × 10-4). On the other hand, the multiple correction criteria of conventional GWASs exclude false-positive loci, but simultaneously, they discard many true-positive loci. To reconsider the discarded true-positive loci, we attempted to include the functional variants (nonsynonymous SNPs [nsSNPs] and expression quantitative trait loci [eQTL]) among the top 5,000 SNPs based on the proportion of phenotypic variance explained by genotypic variance. In total, 159 eQTLs and 18 nsSNPs were presented in the top 5,000 SNPs. Although they should be replicated in other independent populations, 6 eQTLs and 2 nsSNP loci were located in the molecular pathways of LPL, APOA5, and CHRM2, which were the significant or suggestive loci in the METS GWAS. Conclusively, our approach using the conventional GWAS, reconsidering functional variants and pathway-based interpretation, suggests a useful method to understand the GWAS results of complex traits and can be expanded in other genomewide association studies. PMID:25705157

  8. [Sleep studies in adults: interest in snoring disorders and the sleep apnea syndrome].

    PubMed

    Sergysels, R; Lorimier, P; Dachy, B; Sanna, A; Lachman, A

    1989-09-01

    The authors review the concept of sleep apnea syndrome in adults. A description of a polysomnigraphic study is given. Personal results in a population of obese heavy snorers are summarized. PMID:2799140

  9. Fibromyalgia Syndrome Symptoms and Effects: A Cross-Sectional Study.

    ERIC Educational Resources Information Center

    Prince, Alice; Bernard, Amy L.; Edsall, Patricia A.

    2000-01-01

    Surveyed fibromyalgia syndrome support group members about characteristics of the disease and how it affected their lives. Respondents had symptoms for many years before being diagnosed. Symptoms varied tremendously on a daily and yearly basis, so disease management was in a constant state of flux. Most symptoms significantly impacted quality of…

  10. Sleep disturbance in Sanfilippo syndrome: a parental questionnaire study

    PubMed Central

    Fraser, J; Gason, A; Wraith, J; Delatycki, M

    2005-01-01

    Aims: To determine the incidence, manifestations, and best management of sleep disturbance in Sanfilippo syndrome (mucopolysaccharidosis (MPS) type III). Methods: Families were ascertained through the MPS societies of Australasia, the UK, and the USA. Questionnaires were sent by mail and were answered anonymously. Identical questions regarding sleep disturbance were asked about unaffected siblings to provide control data. Sleep disturbance was quantified by a total sleep disturbance score. Results: A total of 141 responses were received; 91.5% of children with Sanfilippo syndrome had sleep disturbance and this was significantly higher than for their unaffected sibs; 77.5% of parents had used medication for this problem, with melatonin and antihistamines being most commonly used. Melatonin and benzodiazepines were reported as the most efficacious. Many different environmental modifications had been employed for this problem and some parents reported success with behavioural therapies. Conclusions: Sleep disturbance is common, severe, and difficult to manage in Sanfilippo syndrome. Based on the parental responses and its safety profile, melatonin is the first line drug that should be tried. Behavioural therapy should be tried in all with Sanfilippo syndrome and sleep disturbance. PMID:16301549

  11. Autistic Syndromes and Diet: A Follow-Up Study.

    ERIC Educational Resources Information Center

    Knivsberg, Ann-Mari; And Others

    1995-01-01

    Fifteen subjects ages 6 to 22 years with autistic syndromes and pathological urine patterns with increased urinary peptides were given diets free of gluten and casein and were evaluated at 1 and 4 years. Normalization of urine patterns, a decrease in odd behavior, and improvement in communication skills were found. (SLD)

  12. American Indians' Knowledge about Fetal Alcohol Syndrome: An Exploratory Study.

    ERIC Educational Resources Information Center

    Shostak, Myra; Brown, Lester B.

    1995-01-01

    A survey examined knowledge about fetal alcohol syndrome (FAS) and about the effects of prenatal maternal drinking on the fetus among 76 American Indians in Los Angeles, including undergraduate and graduate students and participants in a residential alcohol treatment program. Also reviews the literature on FAS symptoms, outcomes, and incidence,…

  13. A Study of CHARGE Syndrome in the UK

    ERIC Educational Resources Information Center

    Deuce, Gail; Howard, Simon; Rose, Steve; Fuggle, Chris

    2012-01-01

    This article reports findings of a questionnaire completed by 44 families living in the UK with a child (aged 15 years or younger) with a medical diagnosis of CHARGE syndrome. The questionnaire contained three sections, namely Diagnosis (including medical and health issues), Child development, and Educational provision. This article reports on the…

  14. A case study of brain morphometry in triplets discordant for Down syndrome.

    PubMed

    Adeyemi, Elizabeth I; Giedd, Jay N; Lee, Nancy Raitano

    2015-05-01

    Down syndrome, the most common genetic cause of intellectual disability, offers the opportunity to explore the associations between genetics and both neuroanatomic and neuropsychological phenotypes. This case report summarizes the findings of a neuroimaging and neuropsychology study of two adolescent females with Down syndrome and their same-sex discordant triplet siblings (one from each family; n = 4). Using high-resolution magnetic resonance imaging and surface based morphometric approaches, we offer the first in vivo report of cortical surface area reductions and increases in the thickness of the cortical sheet in youth with Down syndrome relative to their typically developing same-sex triplet siblings.

  15. Transcranial magnetic stimulation studies in the Miller Fisher syndrome: evidence of corticospinal tract abnormality

    PubMed Central

    Lo, Y; Ratnagopal, P

    2001-01-01

    OBJECTIVES—To evaluate serial central motor conduction time in the Miller Fisher syndrome.
METHOD—Three patients with classic Miller Fisher syndrome were evaluated clinically. They had serial central motor conduction times measured with transcranial magnetic stimulation and nerve conduction studies. Motor evoked potentials were recorded from the first dorsal interossei and abductor hallucis muscles.
RESULTS—All three patients showed reduction in central motor conduction times in tandem with gradual clinical improvement at each review.
CONCLUSIONS—There is electrophysiological evidence of a central reversible corticospinal tract conduction abnormality in the Miller Fisher syndrome.

 PMID:11459894

  16. A study of 113 cases of genital ulcerative disease and urethral discharge syndrome with validation of syndromic management of sexually transmitted diseases

    PubMed Central

    Bhavsar, Chintan; Patel, Raksha M.; Marfatia, Yogesh

    2014-01-01

    Aims: To validate syndromic management of cases having genital ulcerative disease (GUD) and urethral discharge syndrome (UDS). Materials and Methods: A study of 113 cases of GUD and UDS was carried out in the Department of Skin and VD from March 2011 to August 2012. All cases having history and clinical evidence suggestive of GUD and UDS were included in the study. Results: According to syndromic diagnosis, GUD herpetic syndrome was the most common 71 (62.27%), followed by GUD non-herpetic syndrome 25 (21.89%) and UDS 17 (14.91%). Out of 71 cases clinically diagnosed as GUD herpetic, 16 (22.53%) were validated by immunoglobulin M (IgM) anti herpes simplex virus-2 (HSV) serology, 14 (19.71%) by Tzanck smear and 3 (4.22%) by both. 24 (33.80%) were Reactive plasma Reagin (RPR)(<1:8) reactive and trepenomma palidum haem-agglutination positive. Out of total 25 clinically diagnosed GUD non herpetic cases, 22 (88%) were validated by laboratory tests Out of 17 cases of UDS, 15 (88%) were validated by smear. Conclusion: Sensitivity and specificity of clinically diagnosed syndrome is not so high particularly for GUD herpetic syndrome Continuous monitoring of diagnostic component of syndromic approach is key to success of STD control program. PMID:24958984

  17. The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome.

    PubMed

    Schepers, Dorien; Doyle, Alexander J; Oswald, Gretchen; Sparks, Elizabeth; Myers, Loretha; Willems, Patrick J; Mansour, Sahar; Simpson, Michael A; Frysira, Helena; Maat-Kievit, Anneke; Van Minkelen, Rick; Hoogeboom, Jeanette M; Mortier, Geert R; Titheradge, Hannah; Brueton, Louise; Starr, Lois; Stark, Zornitza; Ockeloen, Charlotte; Lourenco, Charles Marques; Blair, Ed; Hobson, Emma; Hurst, Jane; Maystadt, Isabelle; Destrée, Anne; Girisha, Katta M; Miller, Michelle; Dietz, Harry C; Loeys, Bart; Van Laer, Lut

    2015-02-01

    Shprintzen-Goldberg syndrome (SGS) is a rare, systemic connective tissue disorder characterized by craniofacial, skeletal, and cardiovascular manifestations that show a significant overlap with the features observed in the Marfan (MFS) and Loeys-Dietz syndrome (LDS). A distinguishing observation in SGS patients is the presence of intellectual disability, although not all patients in this series present this finding. Recently, SGS was shown to be due to mutations in the SKI gene, encoding the oncoprotein SKI, a repressor of TGFβ activity. Here, we report eight recurrent and three novel SKI mutations in eleven SGS patients. All were heterozygous missense mutations located in the R-SMAD binding domain, except for one novel in-frame deletion affecting the DHD domain. Adding our new findings to the existing data clearly reveals a mutational hotspot, with 73% (24 out of 33) of the hitherto described unrelated patients having mutations in a stretch of five SKI residues (from p.(Ser31) to p.(Pro35)). This implicates that the initial molecular testing could be focused on mutation analysis of the first half of exon 1 of SKI. As the majority of the known mutations are located in the R-SMAD binding domain of SKI, our study further emphasizes the importance of TGFβ signaling in the pathogenesis of SGS.

  18. Dietary Patterns of Korean Adults and the Prevalence of Metabolic Syndrome: A Cross-Sectional Study

    PubMed Central

    Woo, Hae Dong; Shin, Aesun; Kim, Jeongseon

    2014-01-01

    The prevalence of metabolic syndrome has been increasing in Korea and has been associated with dietary habits. The aim of our study was to identify the relationship between dietary patterns and the prevalence of metabolic syndrome. Using a validated food frequency questionnaire, we employed a cross-sectional design to assess the dietary intake of 1257 Korean adults aged 31 to 70 years. To determine the participants’ dietary patterns, we considered 37 predefined food groups in principal components analysis. Metabolic syndrome was defined according to the National Cholesterol Education Program Adult Treatment Panel III. The abdominal obesity criterion was modified using Asian guidelines. Prevalence ratios and 95% confidence intervals for the metabolic syndrome were calculated across the quartiles of dietary pattern scores using log binomial regression models. The covariates used in the model were age, sex, total energy intake, tobacco intake, alcohol consumption, and physical activity. The prevalence of metabolic syndrome was 19.8% in men and 14.1% in women. The PCA identified three distinct dietary patterns: the ‘traditional’ pattern, the ‘meat’ pattern, and the ‘snack’ pattern. There was an association of increasing waist circumference and body mass index with increasing score in the meat dietary pattern. The multivariate-adjusted prevalence ratio of metabolic syndrome for the highest quartile of the meat pattern in comparison with the lowest quartile was 1.47 (95% CI: 1.00–2.15, p for trend = 0.016). A positive association between the prevalence of metabolic syndrome and the dietary pattern score was found only for men with the meat dietary pattern (2.15, 95% CI: 1.10–4.21, p for trend = 0.005). The traditional pattern and the snack pattern were not associated with an increased prevalence of metabolic syndrome. The meat dietary pattern was associated with a higher prevalence of metabolic syndrome in Korean male adults. PMID:25365577

  19. A Cross-Syndrome Study of the Development of Holistic Face Recognition in Children with Autism, Down Syndrome, and Williams Syndrome

    ERIC Educational Resources Information Center

    Annaz, Dagmara; Karmiloff-Smith, Annette; Johnson, Mark H.; Thomas, Michael S. C.

    2009-01-01

    We report a cross-syndrome comparison of the development of holistic processing in face recognition in school-aged children with developmental disorders: autism, Down syndrome, and Williams syndrome. The autism group was split into two groups: one with high-functioning children and one with low-functioning children. The latter group has rarely…

  20. [Neuro-otological study of Laurence-Moon-Biedl syndrome].

    PubMed

    Muratsuka, Y; Nishihira, O; Inoue, H; Komune, S

    1991-01-01

    Two siblings of Laurence-Moon-Biedl (L-M-B) syndrome with nystagmus and/or sensorineural hearing loss were reported. One sibling had a slight hearing impairment as well as gaze and rebound nystagmus. The auditory brainstem responses (ABR) showed increased latencies of wave V on both ears. The optokinetic nystagmus (OKN) was limited toward the both horizontal sides. Nystagmus was superimposed on the eye tracking movement. Ocular hypermetria was observed, with bilateral weakness of caloric responses and even a failure of visual fixation suppression. Another sibling had a left-beating spontaneous nystagmus. The latencies of wave V of ABR were prolonged in both ears. The leftward OKN was limited and bilateral saccadic pursuits observed on eye tracking test. These results suggest that cerebellar of brain-stem lesions may be involved in L-M-B syndrome. PMID:2019910

  1. Handwriting Tics in Tourette's Syndrome: A Single Center Study.

    PubMed

    Zanaboni Dina, Carlotta; Bona, Alberto R; Zekaj, Edvin; Servello, Domenico; Porta, Mauro

    2016-01-01

    Tourette's syndrome (TS) is a neurodevelopmental disorder typically defined by multiple motor tics and at least one sound tic, beginning in childhood or in adolescence. Handwriting is one of the most impaired school activities for TS patients because of the presence of tics that hamper learning processes. In this paper, we present a case of handwriting tics in a TS patient highlighting the main features.

  2. Congenital Zika syndrome with arthrogryposis: retrospective case series study

    PubMed Central

    Filho, Epitacio Leite Rolim; Lins, Otavio Gomes; Aragão, Maria de Fátima Viana Vasco; Brainer-Lima, Alessandra Mertens; Cruz, Danielle Di Cavalcanti Sousa; Rocha, Maria Angela Wanderley; Sobral da Silva, Paula Fabiana; Carvalho, Maria Durce Costa Gomes; do Amaral, Fernando José; Gomes, Joelma Arruda; Ribeiro de Medeiros, Igor Colaço; Ventura, Camila V; Ramos, Regina Coeli

    2016-01-01

    Objective To describe the clinical, radiological, and electromyographic features in a series of children with joint contractures (arthrogryposis) associated with congenital infection presumably caused by Zika virus. Design Retrospective case series study. Setting Association for Assistance of Disabled Children, Pernambuco state, Brazil. Participants Seven children with arthrogryposis and a diagnosis of congenital infection presumably caused by Zika virus during the Brazilian microcephaly epidemic. Main outcome measures Main clinical, radiological, and electromyographic findings, and likely correlation between clinical and primary neurological abnormalities. Results The brain images of all seven children were characteristic of congenital infection and arthrogryposis. Two children tested positive for IgM to Zika virus in the cerebrospinal fluid. Arthrogryposis was present in the arms and legs of six children (86%) and the legs of one child (14%). Hip radiographs showed bilateral dislocation in seven children, subluxation of the knee associated with genu valgus in three children (43%), which was bilateral in two (29%). All the children underwent high definition ultrasonography of the joints, and there was no evidence of abnormalities. Moderate signs of remodeling of the motor units and a reduced recruitment pattern were found on needle electromyography (monopolar). Five of the children underwent brain computed tomography (CT) and magnetic resonance imaging (MRI) and the remaining two CT only. All presented malformations of cortical development, calcifications predominantly in the cortex and subcortical white matter (especially in the junction between the cortex and white matter), reduction in brain volume, ventriculomegaly, and hypoplasia of the brainstem and cerebellum. MRI of the spine in four children showed apparent thinning of the cord and reduced ventral roots. Conclusions Congenital Zika syndrome should be added to the differential diagnosis of congenital

  3. Divorce in families of children with Down syndrome: a population-based study.

    PubMed

    Urbano, Richard C; Hodapp, Robert M

    2007-07-01

    In this study, we examined the nature, timing, and correlates of divorce in families of children with Down syndrome (647), other birth defects (10,283) and no identified disability (361,154). Divorce rates among families of children with Down syndrome were lower than in the other two groups. When divorce did occur in the Down syndrome group, however, a higher proportion occurred within the first 2 years after the child's birth. Mothers and fathers of children with Down syndrome were much more likely to divorce if they were younger, had not graduated from high school, and if fathers were less educated and lived in a rural area. Few effects on divorce were noted for a variety of family structure variables.

  4. Genotype by Energy Expenditure Interaction with Metabolic Syndrome Traits: The Portuguese Healthy Family Study

    PubMed Central

    Santos, Daniel M. V.; Katzmarzyk, Peter T.; Diego, Vincent P.; Souza, Michele C.; Chaves, Raquel N.; Blangero, John; Maia, José A. R.

    2013-01-01

    Moderate-to-high levels of physical activity are established as preventive factors in metabolic syndrome development. However, there is variability in the phenotypic expression of metabolic syndrome under distinct physical activity conditions. In the present study we applied a Genotype X Environment interaction method to examine the presence of GxEE interaction in the phenotypic expression of metabolic syndrome. A total of 958 subjects, from 294 families of The Portuguese Healthy Family study, were included in the analysis. Total daily energy expenditure was assessed using a 3 day physical activity diary. Six metabolic syndrome related traits, including waist circumference, systolic blood pressure, glucose, HDL cholesterol, total cholesterol and triglycerides, were measured and adjusted for age and sex. GxEE examination was performed on SOLAR 4.3.1. All metabolic syndrome indicators were significantly heritable. The GxEE interaction model fitted the data better than the polygenic model (p<0.001) for waist circumference, systolic blood pressure, glucose, total cholesterol and triglycerides. For waist circumference, glucose, total cholesterol and triglycerides, the significant GxEE interaction was due to rejection of the variance homogeneity hypothesis. For waist circumference and glucose, GxEE was also significant by the rejection of the genetic correlation hypothesis. The results showed that metabolic syndrome traits expression is significantly influenced by the interaction established between total daily energy expenditure and genotypes. Physical activity may be considered an environmental variable that promotes metabolic differences between individuals that are distinctively active. PMID:24260389

  5. Vascular manifestations of syndromic aortopathies: role of current and emerging imaging techniques.

    PubMed

    Westerland, O; Frigiola, A; Robert, L; Shaw, A; Blakeway, L; Katsanos, K; Kiesewetter, C; Chung, N; Karunanithy, N

    2015-12-01

    Patients with connective tissue diseases such as Marfan's syndrome, Loeys-Dietz syndrome, and vascular Ehlers-Danlos syndrome comprise a small but important group of patients who present early with acute aortic syndrome comprising aneurysmal dilation, rupture, or aortic dissection. Cardiovascular pathologies are an important yet treatable cause of morbidity and mortality in these patients. Imaging plays an important role in initial diagnosis, surveillance, and identification of complications. Furthermore, these patients are prone to developing complications in other vascular territories. Effective screening and surveillance will allow early diagnosis and elective treatment thus reducing the morbidity and mortality associated with presentation with acute complications. In this article, we will provide an overview of the role of magnetic resonance and computed tomography angiography in the management of syndromic aortopathies. PMID:26388241

  6. Immune Dysfunction in Children with CHARGE Syndrome: A Cross-Sectional Study

    PubMed Central

    van der Burg, Mirjam; la Bastide-van Gemert, Sacha; Hogendorf, Lianne A.; van Ravenswaaij-Arts, Conny M. A.; Schölvinck, Elisabeth H.

    2015-01-01

    CHARGE syndrome is a variable, multiple congenital malformation syndrome. Patients with CHARGE syndrome have frequent infections that are presumed to be due to anatomical anomalies of the craniofacial region and upper airway, and cranial nerve problems resulting in swallowing difficulties and aspiration. The possible contribution of immunological abnormalities to these infections has not been systematically studied even though immune deficiencies have been described in patients with 22q11.2 deletion syndrome, a condition which shares remarkable clinical overlap with CHARGE syndrome. We assessed the frequency and nature of immune dysfunction in 24 children with genetically proven CHARGE syndrome. All patients, or their parents, completed a questionnaire on infectious history. Their immune system was extensively assessed through full blood counts, immunoglobulin levels, lymphocyte subpopulations, peripheral B- and T-cell differentiation, T-receptor excision circle (TREC) analysis, T-cell function, and vaccination responses. All CHARGE patients had a history of infections (often frequent), mainly otitis media and pneumonia, leading to frequent use of antibiotics and to hospital admissions. Decreased T-cell numbers were found in 12 (50%) patients, presumably caused by insufficient thymic output since TREC amounts were also diminished in CHARGE patients. Despite normal peripheral B-cell differentiation and immunoglobulin production in all patients, 83% of patients had insufficient antibody titers to one or more early childhood vaccinations. Based on our results, we recommend immunological evaluation of CHARGE patients with recurrent infections. PMID:26544072

  7. Variations of Lipoprotein(a) Levels in the Metabolic Syndrome: A Report from the Maracaibo City Metabolic Syndrome Prevalence Study

    PubMed Central

    Bermúdez, Valmore; Rojas, Joselyn; Salazar, Juan; Bello, Luis; Áñez, Roberto; Toledo, Alexandra; Chacín, Maricarmen; Aguirre, Miguel; Villalobos, Marjorie; Chávez, Mervin; Martínez, María Sofía; Torres, Wheeler; Torres, Yaquelin; Mejías, José; Mengual, Edgardo; Rojas, Liliana; Sánchez de Rosales, Milagro; Quevedo, Ana; Cano, Raquel; Cabrera, Mayela; París, Rafael; Lubo, Adonías; Montiel, María; Cano, Climaco

    2013-01-01

    Background. Lipoprotein(a) [Lp(a)] is a known risk factor for cardiovascular disease, yet its influence on metabolic syndrome (MS) is still controversial. The purpose of this study was to assess the impact generated by this diagnosis in serum Lp(a) concentrations. Materials and Methods. A total of 1807 subjects of both genders (55.3% women and 44.7% men) belonging to the Maracaibo City Metabolic Syndrome Prevalence Study were evaluated. Results were expressed as Mean ± SD, determining differences through Student's t-test and One-Way ANOVA test. Multiple logistic regression models were utilized for analyzing factors associated with elevated serum Lp(a) levels and MS. Total cholesterol and LDL-C were corrected according to Lp(a)-Cholesterol when necessary. Results. No differences were found in Lp(a) values between genders; P = 0,292. The association between MS and the classification of Lp(a) was statistically significant (χ2 = 28.33; P < 0,0001), with greater levels in subjects with this diagnosis. In the univariate analysis, subjects with each of the separate diagnostic criteria showed higher serum Lp(a) concentrations, except for hyperglycemia. Conclusions. Lp(a) values exhibit important variations regarding MS and each of its components. Impaired fasting glucose appeared as a protecting factor against elevated Lp(a) concentrations, whereas its association with LDL-C and hs-CRP suggests a potential pro-inflammatory role. PMID:23710466

  8. Syndromic surveillance for health information system failures: a feasibility study

    PubMed Central

    Ong, Mei-Sing; Magrabi, Farah; Coiera, Enrico

    2013-01-01

    Objective To explore the applicability of a syndromic surveillance method to the early detection of health information technology (HIT) system failures. Methods A syndromic surveillance system was developed to monitor a laboratory information system at a tertiary hospital. Four indices were monitored: (1) total laboratory records being created; (2) total records with missing results; (3) average serum potassium results; and (4) total duplicated tests on a patient. The goal was to detect HIT system failures causing: data loss at the record level; data loss at the field level; erroneous data; and unintended duplication of data. Time-series models of the indices were constructed, and statistical process control charts were used to detect unexpected behaviors. The ability of the models to detect HIT system failures was evaluated using simulated failures, each lasting for 24 h, with error rates ranging from 1% to 35%. Results In detecting data loss at the record level, the model achieved a sensitivity of 0.26 when the simulated error rate was 1%, while maintaining a specificity of 0.98. Detection performance improved with increasing error rates, achieving a perfect sensitivity when the error rate was 35%. In the detection of missing results, erroneous serum potassium results and unintended repetition of tests, perfect sensitivity was attained when the error rate was as small as 5%. Decreasing the error rate to 1% resulted in a drop in sensitivity to 0.65–0.85. Conclusions Syndromic surveillance methods can potentially be applied to monitor HIT systems, to facilitate the early detection of failures. PMID:23184193

  9. Metabolic syndrome in menopausal transition: Isfahan Healthy Heart Program, a population based study

    PubMed Central

    2010-01-01

    Introduction There is a remarkable increase in cardiovascular disease after menopause. On the other hand, metabolic syndrome as a collection of risk factors has a known effect on cardiovascular diseases. Hormone changes are considered as one of the main relevant factor regarding cardiovascular disease as well as some recognized relationship with metabolic syndrome's components. This study was carried out in order to search for prevalence of metabolic syndrome during menopausal transition. Method In a cross sectional study in urban and rural areas of Isfahan, Najafabad and Arak cities, 1596 women aged more than 45 years were investigated using Isfahan Healthy Heart Program's (IHHP) samples. Participants were categorized into three groups of pre-menopause, menopause and post-menopause. Leisure time physical activity and global dietary index were included as life style factors. The association of metabolic syndrome and its components with menopausal transition considering other factors such as age and life style was analyzed. Results there were 303, 233 and 987 women in premenopausal, early menopausal and postmenopausal groups respectively. Metabolic syndrome was found in 136(44.9%) premenopausal participants and significantly increased to 135(57.9%) and 634(64.3%) in early menopausal and postmenopausal participants respectively, when age was considered (P = 0.010). Except for hypertension and hypertriglyceridemia, there was no significant difference between three groups of menopausal transition when metabolic syndrome's components were considered. Conclusion In contrary to the claims regarding the role of waist circumference and blood glucose in increasing of metabolic syndrome during the menopausal transition, this study showed this phenomenon could be independence of them. PMID:20923542

  10. Genome-Wide Association Study of Down Syndrome-Associated Atrioventricular Septal Defects.

    PubMed

    Ramachandran, Dhanya; Zeng, Zhen; Locke, Adam E; Mulle, Jennifer G; Bean, Lora J H; Rosser, Tracie C; Dooley, Kenneth J; Cua, Clifford L; Capone, George T; Reeves, Roger H; Maslen, Cheryl L; Cutler, David J; Feingold, Eleanor; Sherman, Stephanie L; Zwick, Michael E

    2015-07-20

    The goal of this study was to identify the contribution of common genetic variants to Down syndrome-associated atrioventricular septal defect, a severe heart abnormality. Compared with the euploid population, infants with Down syndrome, or trisomy 21, have a 2000-fold increased risk of presenting with atrioventricular septal defects. The cause of this increased risk remains elusive. Here we present data from the largest heart study conducted to date on a trisomic background by using a carefully characterized collection of individuals from extreme ends of the phenotypic spectrum. We performed a genome-wide association study using logistic regression analysis on 452 individuals with Down syndrome, consisting of 210 cases with complete atrioventricular septal defects and 242 controls with structurally normal hearts. No individual variant achieved genome-wide significance. We identified four disomic regions (1p36.3, 5p15.31, 8q22.3, and 17q22) and two trisomic regions on chromosome 21 (around PDXK and KCNJ6 genes) that merit further investigation in large replication studies. Our data show that a few common genetic variants of large effect size (odds ratio >2.0) do not account for the elevated risk of Down syndrome-associated atrioventricular septal defects. Instead, multiple variants of low-to-moderate effect sizes may contribute to this elevated risk, highlighting the complex genetic architecture of atrioventricular septal defects even in the highly susceptible Down syndrome population.

  11. Counterfactual thinking in Tourette's syndrome: a study using three measures.

    PubMed

    Zago, Stefano; Delli Ponti, Adriana; Mastroianni, Silvia; Solca, Federica; Tomasini, Emanuele; Poletti, Barbara; Inglese, Silvia; Sartori, Giuseppe; Porta, Mauro

    2014-01-01

    Pathophysiological evidence suggests an involvement of frontostriatal circuits in Tourette syndrome (TS) and cognitive abnormalities have been detected in tasks sensitive to cognitive deficits associated with prefrontal damage (verbal fluency, planning, attention shifting, working memory, cognitive flexibility, and social reasoning). A disorder in counterfactual thinking (CFT), a behavioural executive process linked to the prefrontal cortex functioning, has not been investigated in TS. CFT refers to the generation of a mental simulation of alternatives to past factual events, actions, and outcomes. It is a pervasive cognitive feature in everyday life and it is closely related to decision-making, planning, problem-solving, and experience-driven learning-cognitive processes that involve wide neuronal networks in which prefrontal lobes play a fundamental role. Clinical observations in patients with focal prefrontal lobe damage or with neurological and psychiatric diseases related to frontal lobe dysfunction (e.g., Parkinson's disease, Huntington's disease, and schizophrenia) show counterfactual thinking impairments. In this work, we evaluate the performance of CFT in a group of patients with Tourette's syndrome compared with a group of healthy participants. Overall results showed no statistical differences in counterfactual thinking between TS patients and controls in the three counterfactual measures proposed. The possible explanations of this unexpected result are discussed below.

  12. Counterfactual Thinking in Tourette's Syndrome: A Study Using Three Measures

    PubMed Central

    Zago, Stefano; Delli Ponti, Adriana; Inglese, Silvia; Sartori, Giuseppe; Porta, Mauro

    2014-01-01

    Pathophysiological evidence suggests an involvement of frontostriatal circuits in Tourette syndrome (TS) and cognitive abnormalities have been detected in tasks sensitive to cognitive deficits associated with prefrontal damage (verbal fluency, planning, attention shifting, working memory, cognitive flexibility, and social reasoning). A disorder in counterfactual thinking (CFT), a behavioural executive process linked to the prefrontal cortex functioning, has not been investigated in TS. CFT refers to the generation of a mental simulation of alternatives to past factual events, actions, and outcomes. It is a pervasive cognitive feature in everyday life and it is closely related to decision-making, planning, problem-solving, and experience-driven learning—cognitive processes that involve wide neuronal networks in which prefrontal lobes play a fundamental role. Clinical observations in patients with focal prefrontal lobe damage or with neurological and psychiatric diseases related to frontal lobe dysfunction (e.g., Parkinson's disease, Huntington's disease, and schizophrenia) show counterfactual thinking impairments. In this work, we evaluate the performance of CFT in a group of patients with Tourette's syndrome compared with a group of healthy participants. Overall results showed no statistical differences in counterfactual thinking between TS patients and controls in the three counterfactual measures proposed. The possible explanations of this unexpected result are discussed below. PMID:25525296

  13. Dermatoglyphics of Down's syndrome patients in Malays--a comparative study.

    PubMed

    Than, M; Myat, K A; Khadijah, S; Jamaludin, N; Isa, M N

    1998-12-01

    There has been no recent report on the dermatoglyphics of the Malays (normal population as well as patients with Down's syndrome). A study on the frequencies of the dermal patterns (dermatoglyphics) of the digits, palms and hallucal areas was done therefore in 40 Malay patients with Down's syndrome and 200 unrelated normal controls. Only the patients with the standard 21 trisomy karyotype were included in the study. Comparison was made with the published data on studies done in various racial groups. Significant differences of the dermal patterns were found not only between the controls but also among patients of different races.

  14. Methodological issues in the study of intestinal microbiota in irritable bowel syndrome.

    PubMed

    Taverniti, Valentina; Guglielmetti, Simone

    2014-07-21

    Irritable bowel syndrome (IBS) is an intestinal functional disorder with the highest prevalence in the industrialized world. The intestinal microbiota (IM) plays a role in the pathogenesis of IBS and is not merely a consequence of this disorder. Previous research efforts have not revealed unequivocal microbiological signatures of IBS, and the experimental results are contradictory. The experimental methodologies adopted to investigate the complex intestinal ecosystem drastically impact the quality and significance of the results. Therefore, to consider the methodological aspects of the research on IM in IBS, we reviewed 29 relevant original research articles identified through a PubMed search using three combinations of keywords: "irritable bowel syndrome + microflora", "irritable bowel syndrome + microbiota" and "irritable bowel syndrome + microbiome". For each study, we reviewed the quality and significance of the scientific evidence obtained with respect to the experimental method adopted. The data obtained from each study were compared with all considered publications to identify potential inconsistencies and explain contradictory results. The analytical revision of the studies referenced in the present review has contributed to the identification of microbial groups whose relative abundance significantly alters IBS, suggesting that these microbial groups could be IM signatures for this syndrome. The identification of microbial biomarkers in the IM can be advantageous for the development of new diagnostic tools and novel therapeutic strategies for the treatment of different subtypes of IBS.

  15. Methodological issues in the study of intestinal microbiota in irritable bowel syndrome

    PubMed Central

    Taverniti, Valentina; Guglielmetti, Simone

    2014-01-01

    Irritable bowel syndrome (IBS) is an intestinal functional disorder with the highest prevalence in the industrialized world. The intestinal microbiota (IM) plays a role in the pathogenesis of IBS and is not merely a consequence of this disorder. Previous research efforts have not revealed unequivocal microbiological signatures of IBS, and the experimental results are contradictory. The experimental methodologies adopted to investigate the complex intestinal ecosystem drastically impact the quality and significance of the results. Therefore, to consider the methodological aspects of the research on IM in IBS, we reviewed 29 relevant original research articles identified through a PubMed search using three combinations of keywords: “irritable bowel syndrome + microflora”, “irritable bowel syndrome + microbiota” and “irritable bowel syndrome + microbiome”. For each study, we reviewed the quality and significance of the scientific evidence obtained with respect to the experimental method adopted. The data obtained from each study were compared with all considered publications to identify potential inconsistencies and explain contradictory results. The analytical revision of the studies referenced in the present review has contributed to the identification of microbial groups whose relative abundance significantly alters IBS, suggesting that these microbial groups could be IM signatures for this syndrome. The identification of microbial biomarkers in the IM can be advantageous for the development of new diagnostic tools and novel therapeutic strategies for the treatment of different subtypes of IBS. PMID:25083056

  16. Active Smoking and Risk of Metabolic Syndrome: A Meta-Analysis of Prospective Studies

    PubMed Central

    Ning, Guang

    2012-01-01

    Background Epidemiological evidence suggests that smoking has been associated with emergence of metabolic syndrome. However, data on this issue are inconsistent and controversial. We therefore conducted a meta-analysis to examine the association between smoking and metabolic syndrome. Methodology and Principal Findings We searched the Medline, Embase and the Cochrane Library database up to March 2012 to identify prospective cohort studies related to smoking and metabolic syndrome. Reference lists of retrieved articles were also reviewed. Summary effect estimates were derived using a random-effects model and stratified by gender, smoking dose, follow-up duration and geographical area. Primary analysis of 13 studies involving 56,691 participants and 8,688 cases detected a significant positive association between active smoking and risk of metabolic syndrome (pooled relative risk [RR] 1.26, 95% CI: 1.10–1.44). Estimates of effects were substantially consistent in the stratified analyses. In the dose-response analysis, risk of metabolic syndrome was stronger for active male smokers (pooled RR 1.34, 95% CI: 1.20–1.50) than it was for former male smokers (pooled RR 1.19, 95% CI: 1.00–1.42), and greater for heavy smokers (pooled RR 1.42, 95% CI: 1.27–1.59) compared with light smokers (pooled RR 1.10, 95% CI: 0.90–1.35). No evidence of statistical publication bias was found (Egger' s test P = 0.227, Begg' s test P = 0.113). Conclusions Active smoking is associated with development of metabolic syndrome. Smoking cessation appears to reduce the risk of metabolic syndrome. PMID:23082217

  17. A case study of Plummer-Vinson syndrome.

    PubMed

    Sinha, Vikas; Prajapati, Bela; George, Ajay; Gupta, Devang

    2006-10-01

    The case series presents the pattern of association of different co-morbid conditions of Plummer Vinson's Syndrome. The commonest morbidity is web at post cricoid level. The symptoms of dysphagia are more common and there appears to be a female preponderance. The presenting age us usually 5th decade. Although association with post cricoid carcinoma has been reported but only 10% of cases in the present series had carcinoma at the time of presentation. The effect of iron and B-complex supplementation has been clinically appraised and good symptomatic relief has been seen. Maybe this measure can prevent the progression to malignancy. Bouginage was effective in relieving symptoms in all the cases it was tried.

  18. Trichuris dysentery syndrome: Do we learn enough from case studies?

    PubMed

    Zeehaida, M; Zueter, A; Zairi, N Z; Zunulhisham, S

    2015-09-01

    Trichuris Dysentery Syndrome (TDS) is a severe persistent trichuriasis associated with heavy worm build-up in the colon that continues to be neglected and underestimated in endemic countries. Trichuriasis is most prevalent in children in tropical countries, and that increases the risk of TDS. We reported a series of four preschool children of both genders chronically having TDS over a period ranging from several months to years presenting with anaemia. The hemoglobin levels ranged from 4.6 to 9.1 g/dl on first admissions. Despite treatment, the cases were reported to have failure to thrive with persistent anaemia. It was concluded that TDS should be considered in endemic areas among children presenting with chronic bloody diarrhea and anaemia.

  19. The Incidence of Cardiac Lesions among Children with Down's Syndrome in Jamaica – A Prospective Study

    PubMed Central

    Scott, C; Thame, M

    2014-01-01

    ABSTRACT Objectives: This study aimed to define the incidence of Down's syndrome and to describe the epidemiology of cardiac lesions in Jamaican children with Down's syndrome. Methods: A prospective study was conducted on 53 infants during the period January 1, 2007 to December 31, 2007, at the Bustamante Hospital for Children, Kingston, Jamaica. A medical history, physical examination and echo Doppler was performed on each child. Results: Forty-six thousand babies were born in Jamaica in 2007, of which 53 infants were diagnosed with Down's syndrome, giving an incidence of 1:868. Forty-two (79.2%) infants had congenital heart lesions. Of the 42 patients with cardiac lesions, 50% had an isolated cardiac lesion while 50% had multiple defects. The most common single defect was the atrioventricular septal defect found in 10 (24%) patients. The most frequent concomitant malformation was a patent ductus arteriosus, found in 16 (38.1%) of the patients. The median age of diagnosis with Down's syndrome was 0.14 weeks (interquartile range (IQR) 0 to 68 weeks). The median age of diagnosis with the cardiac lesion was 15.1 weeks (IQR 0 to 40.0 weeks). Conclusions: The incidence of Down's syndrome in Jamaica is similar to the reported international experience. The distribution of cardiac malformations is similar to that in other countries; however, the main difference is the higher incidence of congenital heart disease and a higher incidence of combined lesions. PMID:25867555

  20. Experiences of parenting young people with a diagnosis of Asperger syndrome: a focus group study.

    PubMed

    Chell, Neil

    2006-05-01

    Asperger syndrome only became recognised as a distinct diagnostic category in more recent versions of ICD 10 (WHO 1992) and DSM IV (APA 1994). Whilst a great deal of work has taken place since this time, there has been little research directed at understanding the experiences of families raising children with this diagnosis (Blacher 2003). This focus group study involved engaging directly with parents of children diagnosed with Asperger syndrome in order to understand something of their experiences with particular reference to what has or might be helpful. The aim of the study is to identify parent's perspectives and insights in order to inform service development.

  1. HPV vaccination syndrome. A questionnaire-based study.

    PubMed

    Martínez-Lavín, Manuel; Martínez-Martínez, Laura-Aline; Reyes-Loyola, Paola

    2015-11-01

    Isolated cases and small series have described the development of complex regional pain syndrome, postural orthostatic tachycardia, and fibromyalgia after human papillomavirus (HPV) vaccination. These illnesses are difficult to diagnose and have overlapping clinical features. Small fiber neuropathy and dysautonomia may play a major role in the pathogenesis of these entities. We used the following validated questionnaires to appraise the chronic illness that might appear after HPV vaccination: The 2010 American College of Rheumatology Fibromyalgia Diagnostic Criteria, COMPASS 31 dysautonomia questionnaire, and S-LANSS neuropathic pain form. These questionnaires and a "present illness" survey were e-mailed to persons who had the onset of a chronic ailment soon after HPV vaccination. Forty-five filled questionnaires from individuals living in 13 different countries were collected in a month's period. Mean (±SD) age at vaccination time was 14 ± 5 years. Twenty-nine percent of the cases had immediate (within 24 h) post-vaccination illness onset. The most common presenting complaints were musculoskeletal pain (66%), fatigue (57%), headache (57%), dizziness/vertigo (43%), and paresthesias/allodynia (36%). Fifty-three percent of affected individuals fulfill the fibromyalgia criteria. COMPASS-31 score was 43 ± 21, implying advanced autonomic dysfunction. Eighty-three percent of the patients who had ongoing pain displayed S-LANSS values >12, suggesting a neuropathic component in their pain experience. After a mean period of 4.2 ± 2.5 years post-vaccination, 93% of patients continue to have incapacitating symptoms and remain unable to attend school or work. In conclusion, a disabling syndrome of chronic neuropathic pain, fatigue, and autonomic dysfunction may appear after HPV vaccination.

  2. Metabolic Syndrome in Yup'ik Eskimos: The Center for Alaska Native Health Research (CANHR) Study

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Objective: This study investigated the prevalence of metabolic syndrome and its defining components among Yup’ik Eskimos. Research Methods and Procedures: A cross-sectional study design that included 710 adult Yup’ik Eskimos 18 years of age residing in 8 communities in Southwest Alaska. The prevale...

  3. An Epidemiological and Diagnostic Study of Asperger Syndrome according to Four Sets of Diagnostic Criteria

    ERIC Educational Resources Information Center

    Mattila, Marja-Leena; Kielinen, Marko; Jussila, Katja; Linna, Sirkka-Liisa; Bloigu, Risto; Ebeling, Hanna; Moilanen, Irma

    2007-01-01

    Objective: This study evaluated the diagnostic process and prevalence rates of Asperger syndrome (AS) according to the DSM-IV, ICD-10, and criteria developed by Gillberg and Gillberg and by Szatmari and colleagues and clarified confusion about AS. Method: An epidemiological study of 5,484 eight-year-old children in Finland, 4,422 (80.6%) of whom…

  4. The Behavioural Phenotype of Cornelia de Lange Syndrome: A Study of 56 Individuals

    ERIC Educational Resources Information Center

    Basile, Emanuele; Villa, L.; Selicorni, A.; Molteni, M.

    2007-01-01

    Background: Few studies have investigated functional and behavioural variables of Cornelia de Lange Syndrome (CdLS) in a large sample of individuals. The aim of this study is to provide greater insight into the clinical, behavioural and cognitive characteristics that are associated with CdLS. Methods: In total, 56 individuals with CdLS…

  5. Frontal Electroencephalogram Asymmetry during Affective Processing in Children with Down Syndrome: A Pilot Study

    ERIC Educational Resources Information Center

    Conrad, N. J.; Schmidt, L. A.; Niccols, A.; Polak, C. P.; Riniolo, T. C.; Burack, J. A.

    2007-01-01

    Background: Although the pattern of frontal electroencephalogram (EEG) asymmetry during the processing of emotion has been examined in many studies of healthy adults and typically developing infants and children, no published work has used these theoretical and methodological approaches to study emotion processing in children with Down syndrome.…

  6. Development and Behaviour in Marshall-Smith Syndrome: An Exploratory Study of Cognition, Phenotype and Autism

    ERIC Educational Resources Information Center

    van Balkom, I. D. C.; Shaw, A.; Vuijk, P. J.; Franssens, M.; Hoek, H. W.; Hennekam, R. C. M.

    2011-01-01

    Background: Marshall-Smith syndrome (MSS) is an infrequently described entity characterised by failure to thrive, developmental delay, abnormal bone maturation and a characteristic face. In studying the physical features of a group of patients, we noticed unusual behavioural traits. This urged us to study cognition, behavioural phenotype and…

  7. Brief Report: A Longitudinal Study of Excessive Smiling and Laughing in Children with Angelman Syndrome

    ERIC Educational Resources Information Center

    Adams, Dawn; Horsler, Kate; Mount, Rebecca; Oliver, Chris

    2015-01-01

    Elevated laughing and smiling is a key characteristic of the Angelman syndrome behavioral phenotype, with cross-sectional studies reporting changes with environment and age. This study compares levels of laughing and smiling in 12 participants across three experimental conditions [full social interaction (with eye contact), social interaction with…

  8. Gene, Brain, and Behavior Relationships in Fragile X Syndrome: Evidence from Neuroimaging Studies

    ERIC Educational Resources Information Center

    Lightbody, Amy A.; Reiss, Allan L.

    2009-01-01

    Fragile X syndrome (FraX) remains the most common inherited cause of intellectual disability and provides a valuable model for studying gene-brain-behavior relationships. Over the past 15 years, structural and functional magnetic resonance imaging studies have emerged with the goal of better understanding the neural pathways contributing to the…

  9. Williams Syndrome Hypersociability: A Neuropsychological Study of the Amygdala and Prefrontal Cortex Hypotheses

    ERIC Educational Resources Information Center

    Capitao, Liliana; Sampaio, Adriana; Fernandez, Montse; Sousa, Nuno; Pinheiro, Ana; Goncalves, Oscar F.

    2011-01-01

    Individuals with Williams syndrome display indiscriminate approach towards strangers. Neuroimaging studies conducted so far have linked this social profile to structural and/or functional abnormalities in WS amygdala and prefrontal cortex. In this study, the neuropsychological hypotheses of amygdala and prefrontal cortex involvement in WS…

  10. A Comparative Study of Educational Provision for Children with Neurogenetic Syndromes: Parent and Teacher Survey

    ERIC Educational Resources Information Center

    Reilly, C.; Senior, J.; Murtagh, L.

    2015-01-01

    Background: A number of neurogenetic syndromes have a high association with special educational needs including fragile X syndrome (FXS), Prader-Willi syndrome (PWS), Williams syndrome (WS) and Velo-Cardio-Facial syndrome (VCFS). There is a paucity of research on educational provision for children affected by these syndromes. Method: Parents…

  11. An electrophysiological study on children and young adults with Alport's syndrome.

    PubMed Central

    Jeffrey, B G; Jacobs, M; Sa, G; Barratt, T M; Taylor, D; Kriss, A

    1994-01-01

    Alport's syndrome is characterised by progressive haematuric nephritis and high tone sensorineural hearing loss. Ocular signs are variable, the most consistent findings being anterior lenticonus and retinal flecks in the macula and mid peripheral areas. Previous electrophysiological studies on patients with Alport's syndrome have mostly been on adult patients undergoing haemodialysis, or after renal transplantation. A group of young patients with Alport's syndrome were studied to assess if early electrophysiological changes were detectable. A total of 20 patients (15 males and five females) between the ages of 3.5 and 22 years (mean 12.7 (years) were examined and compared with control subjects. Visual evoked potentials and electroretinograms were obtained following flash and pattern reversal stimulation. Electro-oculograms were also recorded. No significant electrophysiological changes were found in any of the 20 patients, including four who had visible fundus changes. PMID:8110699

  12. Hepatotoxicity of isotretinoin in patients with acne and Gilbert's syndrome: a comparative study

    PubMed Central

    Fernández-Crehuet, Pablo; Fernández-Crehuet, José Luis; Allam, Mohamed Farouk; Fernández-Crehuet Navajas, Rafael

    2014-01-01

    Objectives The objective of our follow-up study is to evaluate liver function tests (LFTs) and lipid profiles in patients with Gilbert's syndrome treated with isotretinoin because of severe acne. Setting Dermatology outpatient clinics of three regional hospitals of Jaén (Spain). Participants Over 4 years, we included all patients diagnosed with severe acne. Only 37 patients were identified, of which 11 had Gilbert's syndrome. Interventions All patients were treated with isotretinoin and followed-up in our outpatient clinics after 10 and 20 weeks. Patients were subjected to an interview questionnaire which included data on age, gender, complete blood count, coagulation profile, fasting blood glucose, LFTs and lipid profiles. Data and results of patients with severe acne and Gilbert's syndrome were compared with those of 26 patients with only severe acne (control group). Primary outcome Blood analyses were repeated in the follow-up visits. Results In patients with Gilbert's syndrome, bilirubin levels showed substantial decrease over the 20-week follow-up, with more decrease after 10 weeks. None of the control group patients had significant increase in total bilirubin levels after 10 and 20 weeks of follow-up. Liver enzymes were maintained within normal levels in both groups. Both study groups did not show significant pathological increase in lipid profile levels. LDL levels were increased in the two study groups, but this increase was less substantial in patients with Gilbert's syndrome. Conclusions Our preliminary results suggest that oral isotretinoin could be an effective, safe treatment for patients with Gilbert's syndrome, and may lower bilirubin levels in the first 10 weeks of treatment. Limitations of the study include the small numbers of participants and the fact that it is restricted to one region of Spain. PMID:24650805

  13. Retrospective study of canine heartworm disease with caval syndrome in Grenada, West Indies.

    PubMed

    Chikweto, A; Bhaiyat, M I; Lanza-Perea, M; Veytsman, S; Tiwari, K; De Allie, C; Sharma, R N

    2014-10-15

    Canine heartworm disease caused by Dirofilaria immitis is an important disease of dogs. The aim of this retrospective study was to estimate the prevalence of canine heartworm disease and evaluate cases of caval syndrome in dogs submitted for necropsy in Grenada. Out of 1617 dogs necropsied over a period of 13 years (2001-2013), 249 were found to be infected with D. immitis; giving an overall prevalence of 15.4% (95% confidence interval, 13.6% to 17.1%). There was no significant difference between male and female dogs with respect to canine heartworm infection (p = 0.3). During this period, the annual prevalence of canine heartworm disease was 22% in 2001 before slightly declining to an average of 18% in 2002-2003 and peaking at 26.8% in 2004-2005. From 2006 onwards, annual prevalence rates have steadily been decreasing; reaching the lowest (9%) in 2013. Among the 249 positive cases, 33 (13.2%) of the dogs had caval syndrome. Caval syndrome cases presented with concurrent clinical signs and were associated with cardio-pulmonary and hepatic gross lesions at necropsy. Aberrant migration of D. immitis was also noted in 2 dogs with caval syndrome. This is the first report which presents the findings of canine heartworm disease with caval syndrome in Grenada.

  14. Redefining Metabolic Syndrome as a Fat Storage Condition Based on Studies of Comparative Physiology

    PubMed Central

    Johnson, Richard J; Stenvinkel, Peter; Martin, Sandra L.; Jani, Alkesh; Sanchez-Lozada, Laura Gabriela; Hill, James O; Lanaspa, Miguel A

    2012-01-01

    The metabolic syndrome refers to a constellation of signs including abdominal obesity, elevated serum triglycerides, low HDL-cholesterol, elevated blood pressure and insulin resistance. Today approximately one third of the adult population has the metabolic syndrome. While there is little doubt that the signs constituting the metabolic syndrome frequently cluster, much controversy exists over the definition, pathogenesis, or clinical utility. Here we present evidence from the field of comparative physiology that the metabolic syndrome is similar to the biological process that animals engage to store fat in preparation for periods of food shortage. We propose that the metabolic syndrome be changed to fat storage condition to more clearly align with its etiology. Obesity in humans is likely the consequences of both genetic predisposition (driven in part by thrifty genes) and environment. Recent studies suggest that the loss of the uricase gene may be one factor that predisposes humans to obesity today. Understanding the process animals engage to switch from a lean insulin-sensitive to an obese insulin-resistant state may provide novel insights into the cause of obesity and diabetes in humans, and unique opportunities for reversing their pathology. PMID:23401356

  15. Soft tissue facial angles in Down's syndrome subjects: a three-dimensional non-invasive study.

    PubMed

    Ferrario, Virgilio F; Dellavia, Claudia; Serrao, Graziano; Sforza, Chiarella

    2005-08-01

    The aim of the present study was to obtain quantitative information concerning the three-dimensional (3D) arrangement of the facial soft tissues of subjects with Down's syndrome. The 3D co-ordinates of 50 soft tissue facial landmarks were recorded by an electromechanical digitizer in 17 male and 11 female subjects with Down's syndrome aged 12-45 years, and in 429 healthy individuals of the same age, ethnicity and gender. From the landmark co-ordinates, geometric calculations were obtained of several 3D facial angles: facial convexity in the horizontal plane (upper facial convexity, mid facial convexity including the nose, and lower facial convexity), mandibular corpus convexity in the horizontal plane, facial convexity including the nose, facial convexity excluding the nose, interlabial angle, nasolabial angle, angle of nasal convexity, left and right soft tissue gonial angles. Data were compared with that collected for the normal subjects by computing the z-scores. Facial convexity in the horizontal plane (both in the upper and mid facial third), facial convexity in the sagittal plane and the angle of nasal convexity were significantly (P < 0.05) increased (flatter) in subjects with Down's syndrome than in the normal controls. Both left and right soft tissue gonial angles were significantly reduced (more acute) in the Down's syndrome subjects. Subjects with Down's syndrome had a more hypoplastic facial middle third with reduced nasal protrusion, and a reduced lower facial third (mandible) than reference, normal subjects.

  16. Effect of Sensory Stimuli on Restless Legs Syndrome: A Randomized Crossover Study

    PubMed Central

    Rozeman, Anouk D.; Ottolini, Truus; Grootendorst, Diana C.; Vogels, Oscar J.M.; Rijsman, Roselyne M.

    2014-01-01

    Study Objective: A variety of sensory stimuli relieve restless legs syndrome symptoms. Because systematic evaluations of sensory stimulation in restless legs syndrome are largely lacking, we performed a randomized crossover study to evaluate the effect of external sensory stimulation on restless legs syndrome symptoms. Methods: Eighteen patients underwent 3 consecutive suggestive immobilization tests with the order of the following 3 conditions randomly assigned: no electrical stimulation (condition 1), tactile and proprioceptive sensory stimulation (condition 2), and tactile sensory stimulation only (condition 3). Restless legs syndrome symptoms were quantified by visual analog scales, and periodic leg movements during wake were measured. Results: Baseline visual analogue scale score was 4.5 (range 0-60) in condition 1, 10.5 (range 0-96) in condition 2, and 8.5 in condition 3 (p = 0.21). There was a tendency towards a higher maximum visual analogue scale score and visual analogue scale score at the end of the suggested immobilization test in the conditions with tactile sensory stimulation, though not significant (p = 0.74 and p = 0.29, respectively). Fifteen patients suffered from periodic leg movements during wake. Median indices were 18 (range 0-145) in condition 1, 26 (range 0-190) in condition 2, and 49 (range 0-228) in condition 3 (p = 0.76). Conclusions: We found a tendency towards less leg discomfort in the conditions in which an external sensory input was applied. This potential benefit of sensory stimuli on restless legs syndrome severity merits further investigation as this could open new ways towards a better pathophysiological understanding and non-pharmacological treatments. Citation: Rozeman AD, Ottolini T, Grootendorst DC, Vogels OJM, Rijsman RM. Effect of sensory stimuli on restless legs syndrome: a randomized crossover study. J Clin Sleep Med 2014;10(8):893-896. PMID:25126036

  17. Carpal Tunnel Syndrome Associated with Oral Bisphosphonates. A Population-Based Cohort Study

    PubMed Central

    Carvajal, Alfonso; Martín Arias, Luis H.; Sáinz, María; Escudero, Antonio; Fierro, Inmaculada; Sauzet, Odile; Cornelius, Victoria R.; Molokhia, Mariam

    2016-01-01

    Background Bisphosphonates are widely used to prevent osteoporotic fractures. Some severe musculoskeletal reactions have been described with this medication; among them, some cases of carpal tunnel syndrome. Thus, the aim of this study was to explore whether bisphosphonates may be associated with this syndrome. Methods A cohort study was conducted to compare exposed to unexposed women; the exposed group was that composed of women having received at least one prescription of an oral bisphosphonate. For the purpose, we used information from The Health Improvement Network (THIN) database. The outcome of interest was defined as those women diagnosed with carpal tunnel syndrome. A survival analysis was performed; the Cox proportional hazard model was used to calculate hazard ratios and 95% confidence intervals, and to adjust for identified confounding variables. Results Out of a sample of 59,475 women older than 51 years, 19,825 were treated with bisphosphonates during the period studied. No differences in age distribution or mean follow-up time were observed between the two groups in comparison. Overall, there were 572 women diagnosed with carpal tunnel syndrome, 242 (1.2%) in the group exposed to bisphosphonates, and 330 (0.8%) in the unexposed. An adjusted hazard ratio of developing carpal tunnel syndrome of 1.38 (95%CI, 1.15–1.64) was found for women exposed to bisphosphonates; no significant changes in the hazard ratios were found when considering different levels of bisphosphonate exposure. Conclusions An increased risk of carpal tunnel syndrome is associated with the use of bisphosphonates in postmenopausal women. PMID:26765346

  18. Dissociation and symptoms of culture-bound syndromes in North America: a preliminary study.

    PubMed

    Ross, Colin A; Schroeder, Elizabeth; Ness, Laura

    2013-01-01

    The aim of this study was to determine whether classical culture-bound syndromes occur among psychiatric inpatients with dissociative disorders in North America. The Dissociative Trance Disorder Interview Schedule, the Dissociative Experiences Scale, and the Dissociative Disorders Interview Schedule were administered to 100 predominantly Caucasian, American, English-speaking trauma program inpatients at a hospital in the United States. The participants reported high rates of childhood physical and/or sexual abuse (87%), dissociative disorders (73%), and membership in the dissociative taxon (78%). They also reported a wide range of possession experiences and exorcism rituals, as well as the classical culture-bound syndromes of latah, bebainan, amok, and pibloktoq. Our data are consistent with the view that possession and classical culture-bound syndromes are predominantly dissociative in nature and not really culture-bound from the perspective of Caucasian, English-speaking America.

  19. Dissociation and symptoms of culture-bound syndromes in North America: a preliminary study.

    PubMed

    Ross, Colin A; Schroeder, Elizabeth; Ness, Laura

    2013-01-01

    The aim of this study was to determine whether classical culture-bound syndromes occur among psychiatric inpatients with dissociative disorders in North America. The Dissociative Trance Disorder Interview Schedule, the Dissociative Experiences Scale, and the Dissociative Disorders Interview Schedule were administered to 100 predominantly Caucasian, American, English-speaking trauma program inpatients at a hospital in the United States. The participants reported high rates of childhood physical and/or sexual abuse (87%), dissociative disorders (73%), and membership in the dissociative taxon (78%). They also reported a wide range of possession experiences and exorcism rituals, as well as the classical culture-bound syndromes of latah, bebainan, amok, and pibloktoq. Our data are consistent with the view that possession and classical culture-bound syndromes are predominantly dissociative in nature and not really culture-bound from the perspective of Caucasian, English-speaking America. PMID:23406226

  20. National down syndrome patient database: Insights from the development of a multi-center registry study.

    PubMed

    Lavigne, Jenifer; Sharr, Christianne; Ozonoff, Al; Prock, Lisa Albers; Baumer, Nicole; Brasington, Campbell; Cannon, Sheila; Crissman, Blythe; Davidson, Emily; Florez, Jose C; Kishnani, Priya; Lombardo, Angela; Lyerly, Jordan; McCannon, Jessica B; McDonough, Mary Ellen; Schwartz, Alison; Berrier, Kathryn L; Sparks, Susan; Stock-Guild, Kara; Toler, Tomi L; Vellody, Kishore; Voelz, Lauren; Skotko, Brian G

    2015-11-01

    The Down Syndrome Study Group (DSSG) was founded in 2012 as a voluntary, collaborative effort with the goal of supporting evidenced-based health care guidelines for individuals with Down syndrome (DS). Since then, 5 DS specialty clinics have collected prospective, longitudinal data on medical conditions that co-occur with DS. Data were entered by clinical staff or trained designees into the National Down Syndrome Patient Database, which we created using REDCap software. In our pilot year, we enrolled 663 participants across the U.S., ages 36 days to 70 years, from multiple racial and ethnic backgrounds. Here we report: (i) the demographic distribution of participants enrolled, (ii) a detailed account of our database infrastructure, and (iii) lessons learned during our pilot year to assist future researchers with similar goals for other patient populations.

  1. Kabuki Make-up Syndrome – A Case Report with Electromyographic study

    PubMed Central

    Sattur, Atul; Abrahim, Lijoy; Naikmasur, Venkatesh G

    2014-01-01

    Kabuki make-up syndrome (KMS), also called Niikawa-Kuroki syndrome reported in 1981, is a rare congenital disorder of unknown aetiology. It is know to occur in many other ethnic groups, though initially described in Japan. We report a 24-year-old girl of Asian origin diagnosed with Kabuki syndrome based on characteristic clinical features. It is characterized by distinctive facial features (eversion of the lower lateral eyelid, arched eyebrows with the lateral one-third dispersed or sparse, depressed nasal tip, and prominent ears), skeletal anomalies, Dermatoglyphic abnormalities, short stature. As per our knowledge there is no literature which gives information about the importance of electromyographic study in the diagnosis and treatment of the KMS. Hence, this report emphasizes on the role of the same. PMID:25584330

  2. Refeeding syndrome influences outcome of anorexia nervosa patients in intensive care unit: an observational study

    PubMed Central

    2010-01-01

    Introduction Data on the epidemiology and management of anorexia nervosa (AN) in the intensive care unit (ICU) are scarce. The aim of this study was to evaluate the prevalence and associated morbidity and mortality of AN in French ICUs. Methods We randomly selected 30 ICUs throughout France. Thereafter, we retrospectively analyzed all patients with AN admitted to any of these 30 ICUs between May 2006 and May 2008. We considered demographic data, diagnosis at admission and complications occurring during the stay, focusing on refeeding syndrome and management of refeeding. Results Eleven of the 30 ICUs participated in the retrospective study, featuring 68 patients, including 62 women. Average body mass index at the admission was 12 ± 3 kg/m2. Twenty one were mechanically ventilated, mainly for neurological reasons. The reported average calorie intake was 22.3 ± 13 kcal/kg/24 h. Major diagnoses at admission were metabolic problems, refeeding survey and voluntary drug intoxication and infection. The most common complications were metabolic, hematological, hepatic, and infectious events, of which 10% occurred during refeeding. Seven patients developed refeeding syndrome. At day one, the average calorie intake was higher for patients who developed refeeding syndrome (23.2 ± 5 Kcal/kg/j; n = 7) versus patients without refeeding syndrome (14.1 ± 3 Kcal/kg/j; n = 61) P = 0.02. Seven patients died, two from acute respiratory distress syndrome and five from multiorgan-failure associated with major hydroelectrolytic problems. Conclusions The frequency of AN in ICU patients is very low and the crude mortality in this group is about 10%. Prevention and early-detection of refeeding syndrome is the key point. PMID:20920160

  3. Teenagers with Down syndrome study algebra in High School.

    PubMed

    Martinez, E M

    1998-01-01

    This paper deals with the adaptation of an algebra curriculum for two students with Down syndrome who were included in High School. Since the kindergarten, this boy and girl have been fully included in general education classes. This paper examines the rationale for this choice on an algebra program. The adaptation of this program was easy because all that was required was to shorten it and do some additional steps in teaching (a little bit more than in a remedial course). Also, visual prompts were provided to the students. The boy needed a calculator all the time. Both of the students learned to calculate algebraic expressions with parenthesis, with positive and negative numbers and even with powers. The boy was able to do algebraic sum of monomials. The girl performed expressions with fractions. They took written and oral tests at the same time as their classmates, but with different exercises or questions. The girl was able to do some mental arithmetic. Often she was more consistent and careful than her typical classmates. The boy had problems with the integration and he did not attend the school full time. The inclusion, even when it was not perfect, provided the motivation to teach and to learn. In both cases, the crucial point was the daily collaboration of the mathematics teacher with the special educator. Both of the students enjoyed the mathematics program, as many typical students do. Mathematics gave them the fulfilling emotion of succeeding!

  4. Ferritin levels and risk of metabolic syndrome: meta-analysis of observational studies

    PubMed Central

    2014-01-01

    Background Elevated ferritin levels have been associated with single cardiovascular risk factors but the relationship to the presence of metabolic syndrome is inconclusive. The aim of this systematic review and meta-analysis of published observational studies was to estimate the association between serum ferritin levels and metabolic syndrome in adults. Methods The Pubmed, SCOPUS and the Cochrane Library databases were searched for epidemiological studies that assessed the association between ferritin levels and metabolic syndrome and were published before September 2013. There were no language restrictions. Two investigators independently selected eligible studies. Measures of association were pooled by using an inverse-variance weighted random-effects model. The heterogeneity among studies was examined using the I2 index. Publication bias was evaluated using the funnel plot. Results Twelve cross-sectional, one case–control and two prospective studies met our inclusion criteria including data from a total of 56,053 participants. The pooled odds ratio (OR) for the metabolic syndrome comparing the highest and lowest category of ferritin levels was 1.73 (95% CI: 1.54, 1.95; I2 = 75,4%). Subgroup analyses indicate that pooled OR was 1.92 (95% CI: 1.61, 2.30; I2 = 78%) for studies adjusting for C-reactive protein (CRP), and 1.52 (95% CI:1. 36, 1.69; I2 = 41%) for studies that did not adjust for CRP (P = 0.044). This finding was remarkably robust in the sensitivity analysis. We did not find publication bias. Conclusions The meta-analysis suggests that increased ferritin levels are independently and positively associated with the presence of the metabolic syndrome with an odds ratio higher than 1.73. PMID:24884526

  5. Using Assistive Technology to Teach Emotion Recognition to Students With Asperger Syndrome: A Pilot Study

    ERIC Educational Resources Information Center

    Lacava, Paul G.; Golan, Ofer; Baron-Cohen, Simon; Myles, Brenda Smith

    2007-01-01

    Many individuals with autism spectrum conditions (ASC) have difficulty recognizing emotions in themselves and others. The present pilot study explored the use of assistive technology to teach emotion recognition (ER) to eight children with ASC. Participants were between the ages of 8 and 11 years and had a diagnosis of Asperger syndrome (AS). ER…

  6. Physical Fitness and Physical Activity in Adolescents with Asperger Syndrome: A Comparative Study

    ERIC Educational Resources Information Center

    Borremans, Erwin; Rintala, Pauli; McCubbin, Jeffrey A.

    2010-01-01

    While physical activity is beneficial for youth with developmental disabilities, little is known about those individuals' fitness profile and levels of activity. Therefore the purpose of this study was to investigate the physical fitness profile and physical activity level of 30 adolescents with and without Asperger syndrome (AS). Evaluations were…

  7. Exploring the Roles and Nature of Science: A Case Study of Severe Acute Respiratory Syndrome

    ERIC Educational Resources Information Center

    Lee, Yeung Chung

    2008-01-01

    The roles of science in society and the nature of science are the focus of many science curricula. Current views about these two aspects of science have largely been informed by the history of scientific development. This article uses the outbreak of severe acute respiratory syndrome--a recent health scare--as a case study to explore the roles of…

  8. Natural History of Thyroid Function in Adults with Down Syndrome--10-Year Follow-Up Study

    ERIC Educational Resources Information Center

    Prasher, V.; Gomez, G.

    2007-01-01

    Background: The natural history of thyroid function in adults with Down syndrome (DS) is unknown. Method: This study investigated annual thyroid function tests in 200 adults with DS over a 10-year period. Results: Transient and persistent thyroid dysfunction was common. The 5- and 10-year incidence of definite hypothyroidism was 0.9%-1.64% and…

  9. Exceptional Rule Learning in a Longitudinal Case Study of Williams Syndrome: Acquisition of Past Tense

    ERIC Educational Resources Information Center

    Jacobson, Peggy F.; Cairns, Helen Smith

    2010-01-01

    Conflicting reports of language ability in Williams syndrome (WS) are confusing and may hinder accurate clinical decisions with respect to therapeutic services and educational placements for children with WS.This longitudinal case study examined the acquisition of regular and irregular past tense verbs in a child with WS. The development of…

  10. Profiles of Social Communicative Competence in Middle School Children with Asperger Syndrome: Two Case Studies

    ERIC Educational Resources Information Center

    Bellon-Harn, Monica L.; Harn, William E.

    2006-01-01

    Among characteristics of children diagnosed with Asperger syndrome (AS) are difficulties in social communication. This study describes the social communicative competence of two middle school children with AS participating in conversations in three different situational contexts. The conversations were transcribed and submitted to three kinds of…

  11. Algebra and Problem-Solving in Down Syndrome: A Study with 15 Teenagers

    ERIC Educational Resources Information Center

    Martinez, Elisabetta Monari; Pellegrini, Katia

    2010-01-01

    There is a common opinion that mathematics is difficult for persons with Down syndrome, because of a weakness in numeracy and in abstract thinking. Since 1996, some single case studies have suggested that new opportunities in mathematics are possible for these students: some of them learned algebra and also learned to use equations in…

  12. Abnormal Processing of Emotional Prosody in Williams Syndrome: An Event-Related Potentials Study

    ERIC Educational Resources Information Center

    Pinheiro, Ana P.; Galdo-Alvarez, Santiago; Rauber, Andreia; Sampaio, Adriana; Niznikiewicz, Margaret; Goncalves, Oscar F.

    2011-01-01

    Williams syndrome (WS), a neurodevelopmental genetic disorder due to a microdeletion in chromosome 7, is described as displaying an intriguing socio-cognitive phenotype. Deficits in prosody production and comprehension have been consistently reported in behavioral studies. It remains, however, to be clarified the neurobiological processes…

  13. Educating Children with Down Syndrome in Lebanon: An Exploratory Study of Urban Mothers' Perspective

    ERIC Educational Resources Information Center

    Hatoum, Rima J.

    2010-01-01

    In view of the fact that Lebanon does not currently have a special education infrastructure, the purpose of this exploratory qualitative study was to understand the phenomenon of educating children with Down syndrome (DS) in Lebanon in terms of the meanings mothers ascribe to it and their description of their experience. The intent was to develop…

  14. Inflectional Morphology in Cri du Chat Syndrome--A Case Study

    ERIC Educational Resources Information Center

    Kristoffersen, Kristian Emil

    2012-01-01

    This study examined morphological skills in a girl with cri du chat syndrome, addressing three questions: (1) To what extent does the subject inflect words? (2) To what extent are words inflected correctly? (3) To what extent do the inflected words reflect productive morphological rules, and to what extent can they be considered to be…

  15. A Longitudinal Study of the Development of Stop Consonant Production in Normal and Down's Syndrome Children.

    ERIC Educational Resources Information Center

    Smith, Bruce L.; Stoel-Gammon, Carol

    1983-01-01

    The longitudinal study of four normal children, 18 to 36 months old, and five Down's syndrome (DS) children, 3 to 6 years old, analyzed the development of stop consonants and stop clusters. Although similar sound patterns were observed for the two groups, the DS children showed considerable performance delay. (DB)

  16. A Comparative Study of Pre-Meaningful Vocalizations Produced by Normally Developing and Down's Syndrome Infants.

    ERIC Educational Resources Information Center

    Oller, D. Kimbrough; Smith, Bruce L.

    1981-01-01

    Premeaningful vocalizations produced by nine normally developing and 10 Down's syndrome infants were recorded as part of a longitudinal study of language development. Both groups began to produce canonical, reduplicated babbling at 8 to 8 1/2 months of age, and trends regarding consonantal and vocalic development for both groups were similar…

  17. Six Weeks to 45-Years: A Longitudinal Study of a Population with Down Syndrome

    ERIC Educational Resources Information Center

    Carr, Janet

    2012-01-01

    Background: A population sample of people with Down Syndrome, repeatedly studied since infancy, has now been followed up at the age of 45 years. The paper is intended to give an overview of their abilities, as represented by the results of psychological tests, over their life span to date. Methods: As at all previous occasions from age 30 onwards,…

  18. Psychometric Study of the Aberrant Behavior Checklist in Fragile X Syndrome and Implications for Targeted Treatment

    ERIC Educational Resources Information Center

    Sansone, Stephanie M.; Widaman, Keith F.; Hall, Scott S.; Reiss, Allan L.; Lightbody, Amy; Kaufmann, Walter E.; Berry-Kravis, Elizabeth; Lachiewicz, Ave; Brown, Elaine C.; Hessl, David

    2012-01-01

    Animal studies elucidating the neurobiology of fragile X syndrome (FXS) have led to multiple controlled trials in humans, with the Aberrant Behavior Checklist-Community (ABC-C) commonly adopted as a primary outcome measure. A multi-site collaboration examined the psychometric properties of the ABC-C in 630 individuals (ages 3-25) with FXS using…

  19. Investigating Word Learning in Fragile X Syndrome: A Fast-Mapping Study

    ERIC Educational Resources Information Center

    McDuffie, Andrea; Kover, Sara T.; Hagerman, Randi; Abbeduto, Leonard

    2013-01-01

    Fast-mapping paradigms have not been used previously to examine the process of word learning in boys with fragile X syndrome (FXS), who are likely to have intellectual impairment, language delays, and symptoms of autism. In this study, a fast-mapping task was used to investigate associative word learning in 4- to 10-year-old boys with FXS relative…

  20. Cognitive Coping Strategies and Stress in Parents of Children with Down Syndrome: A Prospective Study

    ERIC Educational Resources Information Center

    van der Veek, Shelley M. C.; Kraaij, Vivian; Garnefski, Nadia

    2009-01-01

    The purpose of this study was to explore the cross-sectional and prospective relationships between cognitive coping strategies and parental stress in parents of children with Down syndrome. A total of 621 participants filled out questionnaires, including the Cognitive Emotion Regulation Questionnaire to measure cognitive coping and the Nijmeegse…

  1. A Cardiovascular Risk Reduction Program for American Indians with Metabolic Syndrome: The Balance Study

    ERIC Educational Resources Information Center

    Lee, Elisa T.; Jobe, Jared B.; Yeh, Jeunliang; Ali, Tauqeer; Rhoades, Everett R.; Knehans, Allen W.; Willis, Diane J.; Johnson, Melanie R.; Zhang, Ying; Poolaw, Bryce; Rogers, Billy

    2012-01-01

    The Balance Study is a randomized controlled trial designed to reduce cardiovascular disease (CVD) risk in 200 American Indian (AI) participants with metabolic syndrome who reside in southwestern Oklahoma. Major risk factors targeted include weight, diet, and physical activity. Participants are assigned randomly to one of two groups, a guided or a…

  2. Symptoms of Dementia among Adults with Down's Syndrome: A Qualitative Study

    ERIC Educational Resources Information Center

    Deb, Shoumitro; Hare, M.; Prior, L.

    2007-01-01

    Background: Dementia is common among adults with Down's syndrome (DS); yet the diagnosis of dementia, particularly in its early stage, can be difficult in this population. One possible reason for this may be the different clinical manifestation of dementia among people with intellectual disabilities. Aims: The aim of this study was to map out the…

  3. Ageing and Dementia in a Longitudinal Study of a Cohort with Down Syndrome

    ERIC Educational Resources Information Center

    Carr, Janet; Collins, Suzanne

    2014-01-01

    Background: A population sample of people with Down syndrome has been studied from infancy and has now been followed up again at age 47 years. Methods: Intelligence and language skills were tested and daily living skills assessed. Memory/cognitive deterioration was examined using two test instruments. Results: Scores on verbal tests of…

  4. Development of Phonological Awareness in down Syndrome: A Meta-Analysis and Empirical Study

    ERIC Educational Resources Information Center

    Naess, Kari-Anne B.

    2016-01-01

    Phonological awareness (PA) is the knowledge and understanding of the sound structure of language and is believed to be an important skill for the development of reading. This study explored PA skills in children with Down syndrome and matched typically developing (TD) controls using a dual approach: a meta-analysis of the existing international…

  5. Mediating Meaning for Individuals with Down Syndrome: A Phenomenological Case Study

    ERIC Educational Resources Information Center

    McCullough, Michelle J.

    2012-01-01

    The current phenomenological case study, based in part on Vygotsky's sociocultural theory, set out to examine the lived experiences of individuals sharing and mediating meaningful communication with individuals who have Down syndrome. To accomplish this, the researcher interviewed several categories of caregivers who regularly interact with…

  6. Comparative Study of the Cognitive Sequelae of School-Aged Victims of Shaken Baby Syndrome

    ERIC Educational Resources Information Center

    Stipanicic, Annie; Nolin, Pierre; Fortin, Gilles; Gobeil, M. F.

    2008-01-01

    Objective: Shaken Baby Syndrome (SBS) is now recognized as being the main cause of severe traumatic brain injury in infancy. However, our understanding of the impact of this type of abuse on child development remains sketchy. The main objective of the current study was therefore to shed light on the cognitive dysfunctions that are particular to…

  7. Parent-Implemented Hanen Program "More than Words" in Angelman Syndrome: A Case Study

    ERIC Educational Resources Information Center

    de Carlos Isla, Mercedes; Fortea, Inmaculada Baixauli

    2016-01-01

    Children with Angelman syndrome (AS) exhibit significant social, communicative and cognitive difficulties. The aim of this case study was to describe the profile of communicative abilities of a child with AS, before and after the implementation of the Hanen program "More than Words" (MTW). Additionally, changes on the language directed…

  8. Successful Aging in a 70-Year-Old Man with Down Syndrome: A Case Study

    ERIC Educational Resources Information Center

    Krinsky-McHale, Sharon J.; Devenny, Darlynne A.; Gu, Hong; Jenkins, Edmund C.; Kittler, Phyllis; Murty, Vundavalli V.; Schupf, Nicole; Scotto, Luigi; Tycko, Benjamin; Urv, Tiina K.; Ye, Lingling; Zigman, Warren B.; Silverman, Wayne

    2008-01-01

    The authors present a case study of a 70-year-old man with Down syndrome ("Mr. C.") who they followed for 16 years and who does not exhibit declines in cognitive or functional capacities indicative of dementia, despite having well-documented, complete trisomy 21. The authors describe the age-associated changes that occurred over 16 years as well…

  9. Individual and Environmental Characteristics Associated with Cognitive Development in Down Syndrome: A Longitudinal Study

    ERIC Educational Resources Information Center

    Couzens, Donna; Haynes, Michele; Cuskelly, Monica

    2012-01-01

    Background: Associations among cognitive development and intrapersonal and environmental characteristics were investigated for 89 longitudinal study participants with Down syndrome to understand developmental patterns associated with cognitive strengths and weaknesses. Materials and Methods: Subtest scores of the Stanford-Binet IV collected…

  10. Case-control study of sudden infant death syndrome in Lithuania, 1997–2000

    PubMed Central

    Bubnaitienė, Vilija; Kalėdienė, Ramunė; Kėvalas, Rimantas

    2005-01-01

    Background To identify risk factors for sudden infant death syndrome relevant in Lithuania. Methods A nationwide case-control study surveying parents of 35 infants who died from sudden infant death syndrome during the period of 1997–2000 and parents of 145 control infants matched with SIDS infants for date of birth and for region of birth was carried out. Results Deaths incidence was greater in the warm period (60%) vs. cold period (40%). Prone and side sleeping positions both carried no increased risk of sudden infant death syndrome compared with supine because of a rare prone sleeping (4.1% of controls vs. 0% of dead infants) and more prevalent side than supine sleeping (84.8% of controls vs. 94.3% of dead infants) in the controls as well as the cases. Bed sharing for the whole night as a risk factor for sudden infant death syndrome has not been confirmed, either, as bed sharing was common only for the controls (13.8% of controls vs. 0% of dead infants). Routine sleeping environment factors such as heavy wrapping (≥4 togs) of an infant (odds ratio 8.49; 95% confidence interval 2.38 to 30.32), sleeping in a bassinet (4.22; 1.16 to 15.38) and maternal factors such as maternal education ≤12 years (4.48; 1.34 to 14.94), unplanned pregnancy (5.22; 1.49 to 18.18) and ≥2 previous live births (3.90; 1.00 to 15.10) were significantly associated with sudden infant death syndrome on multivariate analysis. Conclusion The results of this first population-based case-control study have shed some light on the epidemiology of the syndrome in Lithuania. Although the mortality of sudden infant death syndrome in Lithuania is not high, it might be lowered moreover by public informing about sudden infant death syndrome and related risk factors. Special attention must be paid to mothers with low education on potentially modifiable risk factors such as routine heavy wrapping of an infant during sleep, routine sleeping in a bassinet and unplanned pregnancy. PMID:16283946

  11. Association of Obstructive Sleep Apnea Syndrome and Buerger's Disease: a Pilot Study.

    PubMed

    Kazemzadeh, Gholam Hosein; Bameshki, Ali Reza; Navvabi, Iman; Ahmadi Hoseini, Seyed Hosein; Taghavi Gilani, Mehryar

    2015-10-01

    In this study we evaluated the incidence and severity of obstructive sleep apnea and Obstructive sleep apnea syndrome in patients with thromboangiitis obliterans for reduction of crisis. In 40 patients with Buerger's disease daily sleepiness and risk of Obstructive sleep apnea were evaluated using the Epworth sleeping scale (ESS) and the Stop-Bang score. An Apnea-link device was used for evaluation of chest motion, peripheral oxygenation, and nasal airflow during night-time sleep. The apnea/hypopnea index (AHI) and respiratory disurbance index were used for Obstructive sleep apnea syndrome diagnosis. All subjects were cigarette smokers and 80% were opium addicted. The prevalence of Obstructive sleep apnea (AHI>5) was 80%, but incidence of Obstructive sleep apnea syndrome (AHI>5 + ESS≥10) was 5% (2/40). There was no association between duration or frequency of hospitalization and Obstructive sleep apnea syndrome (P=0.74 and 0.86, respectively). In addition, no correlation between ESS and Stop-Bang scores and AHI was observed (P=0.58 and 0.41, respectively). There was an inverse correlation between smoking rate and AHI (P=0.032, r = -0.48). We did not find an association between Buerger's disease and Obstructive sleep apnea syndrome. Although the AHI was high (80%) and daily sleepiness was low. The negative correlation of smoking with AHI and on the other hand daily napping in addiction may be caused by the absence of a clear relationship between Obstructive sleep apnea syndrome and Buerger's disease. PMID:26615374

  12. Molecular and clinical study of 61 Angelman syndrome patients

    SciTech Connect

    Saitoh, Shinji; Harada, Naoki; Jinno, Yoshihiro; Niikawa, Norio; Imaizumi, Kiyoshi; Kuroki, Yoshikazu; Fukushima; Yoshimitsu; Sugimoto, Tateo; Renedo, Monica

    1994-08-15

    We analyzed 61 Angelman syndrome (AS) patients by cytogenetic and molecular techniques. On the basis of molecular findings, the patients were classified into the following 4 groups: familial cases without deletion, familial cases with submicroscopic deletion, sporadic cases with deletion, and sporadic cases without deletion. Among 53 sporadic cases, 37 (70%) had molecular deletion, which commonly extended from D15S9 to D15S12, although not all deletions were identical. Of 8 familial cases, 3 sibs from one family had a molecular deletion involving only 2 loci, D15S10 and GABRB3, which define the critical region for AS phenotypes. The parental origin of deletion, both in sporadic and familial cases, was exclusively maternal and consistent with a genomic imprinting hypothesis. Among sporadic and familial cases without deletion, no uniparental disomy was found and most of them were shown to inherit chromosomes 15 from both parents (biparental inheritance). A discrepancy between cytogenetic and molecular deletion was observed in 14 (26%) of 53 patients in whom cytogenetic analysis could be performed. Ten (43%) of 23 patients with a normal karyotype showed a molecular deletion, and 4 (13%) of 30 patients with cytogenetic deletion, del(15) (q11q13), showed no molecular deletion. Most clinical manifestations, including neurological signs and facial characteristics, were not distinct in each group except for hypopigmentation of skin or hair. Familial cases with submicroscopic deletion were not associated with hypopigmentation. These findings suggested that a gene for hypopigmentation is located outside the critical region of AS and is not imprinted. 37 refs., 2 figs., 4 tabs.

  13. Incremental Predictive Value of Serum AST-to-ALT Ratio for Incident Metabolic Syndrome: The ARIRANG Study

    PubMed Central

    Ahn, Song Vogue; Baik, Soon Koo; Cho, Youn zoo; Koh, Sang Baek; Huh, Ji Hye; Chang, Yoosoo; Sung, Ki-Chul; Kim, Jang Young

    2016-01-01

    Aims The ratio of aspartate aminotransferase (AST) to alanine aminotransferase (ALT) is of great interest as a possible novel marker of metabolic syndrome. However, longitudinal studies emphasizing the incremental predictive value of the AST-to-ALT ratio in diagnosing individuals at higher risk of developing metabolic syndrome are very scarce. Therefore, our study aimed to evaluate the AST-to-ALT ratio as an incremental predictor of new onset metabolic syndrome in a population-based cohort study. Material and Methods The population-based cohort study included 2276 adults (903 men and 1373 women) aged 40–70 years, who participated from 2005–2008 (baseline) without metabolic syndrome and were followed up from 2008–2011. Metabolic syndrome was defined according to the harmonized definition of metabolic syndrome. Serum concentrations of AST and ALT were determined by enzymatic methods. Results During an average follow-up period of 2.6-years, 395 individuals (17.4%) developed metabolic syndrome. In a multivariable adjusted model, the odds ratio (95% confidence interval) for new onset of metabolic syndrome, comparing the fourth quartile to the first quartile of the AST-to-ALT ratio, was 0.598 (0.422–0.853). The AST-to-ALT ratio also improved the area under the receiver operating characteristic curve (AUC) for predicting new cases of metabolic syndrome (0.715 vs. 0.732, P = 0.004). The net reclassification improvement of prediction models including the AST-to-ALT ratio was 0.23 (95% CI: 0.124–0.337, P<0.001), and the integrated discrimination improvement was 0.0094 (95% CI: 0.0046–0.0143, P<0.001). Conclusions The AST-to-ALT ratio independently predicted the future development of metabolic syndrome and had incremental predictive value for incident metabolic syndrome. PMID:27560931

  14. Effects of aortic root motion on wall stress in the Marfan aorta before and after personalised aortic root support (PEARS) surgery.

    PubMed

    Singh, S D; Xu, X Y; Pepper, J R; Izgi, C; Treasure, T; Mohiaddin, R H

    2016-07-01

    Aortic root motion was previously identified as a risk factor for aortic dissection due to increased longitudinal stresses in the ascending aorta. The aim of this study was to investigate the effects of aortic root motion on wall stress and strain in the ascending aorta and evaluate changes before and after implantation of personalised external aortic root support (PEARS). Finite element (FE) models of the aortic root and thoracic aorta were developed using patient-specific geometries reconstructed from pre- and post-PEARS cardiovascular magnetic resonance (CMR) images in three Marfan patients. The wall and PEARS materials were assumed to be isotropic, incompressible and linearly elastic. A static load on the inner wall corresponding to the patients' pulse pressure was applied. Cardiovascular MR cine images were used to quantify aortic root motion, which was imposed at the aortic root boundary of the FE model, with zero-displacement constraints at the distal ends of the aortic branches and descending aorta. Measurements of the systolic downward motion of the aortic root revealed a significant reduction in the axial displacement in all three patients post-PEARS compared with its pre-PEARS counterparts. Higher longitudinal stresses were observed in the ascending aorta when compared with models without the root motion. Implantation of PEARS reduced the longitudinal stresses in the ascending aorta by up to 52%. In contrast, the circumferential stresses at the interface between the supported and unsupported aorta were increase by up to 82%. However, all peak stresses were less than half the known yield stress for the dilated thoracic aorta. PMID:27255604

  15. The Relationship Between Depression and Metabolic Syndrome: Systematic Review and Meta-Analysis Study

    PubMed Central

    Ghanei Gheshlagh, Reza; Parizad, Naser; Sayehmiri, Kourosh

    2016-01-01

    Context Several studies have been conducted on the relationship between depression and metabolic syndrome, which have had conflicting results. The purpose of this study was a meta-analysis of studies that have examined the relationship between these two variables. Evidence Acquisition This meta-analysis systematically reviewed the relationship between depression and metabolic syndrome. Scientific databases including IranMedex, SID, Magiran, Scopus, PubMed, Google Scholar, and Science Direct were searched and 17 articles were extracted from 2000 to 2014. Selected studies data were analyzed using meta-analysis and random effects model. Heterogeneity between the studies was examined using I2. Data were analyzed using STATA software version 12.1. Results Seventeen studies were analyzed with a sample size of 31880 people. Analysis by the type of studies showed that the relationship between the two variables in cross-sectional studies (OR = 1.51, CI 95% = 1.36 - 1.68) and cohort studies (OR = 1.6, CI 95% = 1.23 - 2.08) was significant. In general, the heterogeneity test results among the studies was not significant (P for heterogeneity = 0.08, I2 = 39.8%). Conclusions There is a relationship between depression and metabolic syndrome.

  16. The Relationship Between Depression and Metabolic Syndrome: Systematic Review and Meta-Analysis Study

    PubMed Central

    Ghanei Gheshlagh, Reza; Parizad, Naser; Sayehmiri, Kourosh

    2016-01-01

    Context Several studies have been conducted on the relationship between depression and metabolic syndrome, which have had conflicting results. The purpose of this study was a meta-analysis of studies that have examined the relationship between these two variables. Evidence Acquisition This meta-analysis systematically reviewed the relationship between depression and metabolic syndrome. Scientific databases including IranMedex, SID, Magiran, Scopus, PubMed, Google Scholar, and Science Direct were searched and 17 articles were extracted from 2000 to 2014. Selected studies data were analyzed using meta-analysis and random effects model. Heterogeneity between the studies was examined using I2. Data were analyzed using STATA software version 12.1. Results Seventeen studies were analyzed with a sample size of 31880 people. Analysis by the type of studies showed that the relationship between the two variables in cross-sectional studies (OR = 1.51, CI 95% = 1.36 - 1.68) and cohort studies (OR = 1.6, CI 95% = 1.23 - 2.08) was significant. In general, the heterogeneity test results among the studies was not significant (P for heterogeneity = 0.08, I2 = 39.8%). Conclusions There is a relationship between depression and metabolic syndrome. PMID:27621928

  17. Fine Motor Activities Program to Promote Fine Motor Skills in a Case Study of Down's Syndrome.

    PubMed

    Lersilp, Suchitporn; Putthinoi, Supawadee; Panyo, Kewalin

    2016-01-01

    Children with Down's syndrome have developmental delays, particularly regarding cognitive and motor development. Fine motor skill problems are related to motor development. They have impact on occupational performances in school-age children with Down's syndrome because they relate to participation in school activities, such as grasping, writing, and carrying out self-care duties. This study aimed to develop a fine motor activities program and to examine the efficiency of the program that promoted fine motor skills in a case study of Down's syndrome. The case study subject was an 8 -year-old male called Kai, who had Down's syndrome. He was a first grader in a regular school that provided classrooms for students with special needs. This study used the fine motor activities program with assessment tools, which included 3 subtests of the Bruininks-Oseretsky Test of Motor Proficiency, second edition (BOT-2) that applied to Upper-limb coordination, Fine motor precision and Manual dexterity; as well as the In-hand Manipulation Checklist, and Jamar Hand Dynamometer Grip Test. The fine motor activities program was implemented separately and consisted of 3 sessions of 45 activities per week for 5 weeks, with each session taking 45 minutes. The results showed obvious improvement of fine motor skills, including bilateral hand coordination, hand prehension, manual dexterity, in-hand manipulation, and hand muscle strength. This positive result was an example of a fine motor intervention program designed and developed for therapists and related service providers in choosing activities that enhance fine motor skills in children with Down's syndrome. PMID:27357876

  18. Prevalence of metabolic syndrome in scholars from Bucaramanga, Colombia: a population-based study

    PubMed Central

    Villa-Roel, Cristina; Buitrago, Adriana; Rodríguez, Diana C; Cano, Diana J; Martínez, María P; Camacho, Paul A; Ruiz, Álvaro J; Durán, Álvaro E

    2009-01-01

    Background Obesity and metabolic syndrome are strongly associated with type 2 diabetes mellitus and cardiovascular diseases, thus the increasing trend in their prevalence among children and adolescents from developing countries requires a further understanding of their epidemiology and determinants. Methods and design A cross-sectional study was designed to determine the prevalence of metabolic syndrome among 6–10 year-old children from Bucaramanga, Colombia. A two-stage random-cluster (neighborhoods, houses) sampling process was performed based on local city maps and local statistics. The study involves a domiciliary survey; including a comprehensive socio-demographic, nutritional and physical activity characterization of the children that participated in the study, followed by a complete clinical examination; including blood pressure, anthropometry, lipid profile determination, fasting glucose and insulin levels. The prevalence of metabolic syndrome will be determined using definitions and specific percentile cut-off points for this population. Finally, the association between components of metabolic syndrome and higher degrees of insulin resistance will be analyzed through a multivariable logistic regression model. This study protocol was designed in compliance with the Helsinki declaration and approved by the local ethics board. Consent was obtained from the children and their parents/guardians. Discussion A complete description of the environmental and non-environmental factors underlying the burden of metabolic syndrome in children from a developing country like Colombia will provide policy makers, health care providers and educators from similar settings with an opportunity to guide primary and secondary preventive initiatives at both individual and community levels. Moreover, this description may give an insight into the pathophysiological mechanisms mediating the development of cardio-metabolic diseases early in life. PMID:19383169

  19. The Neuropsychology of 22q11 Deletion Syndrome. A Neuropsychiatric Study of 100 Individuals

    ERIC Educational Resources Information Center

    Niklasson, Lena; Gillberg, Christopher

    2010-01-01

    The primary objective of this study was to study the impact of ASD/ADHD on general intellectual ability and profile, executive functions and visuo-motor skills in children and adults with 22q11 deletion syndrome (22q11DS). A secondary aim was to study if gender, age, heart disease, ASD, ADHD or ASD in combination with ADHD had an impact on general…

  20. [Study of the syndromes of traditional Chinese medicine in terms of metabonomics technology: the current situation and considerations].

    PubMed

    Zhang, Jing; Liu, Long; Yan, Xin; Yue, Xiao-qiang

    2012-10-01

    Syndromes constitute a core aspect in the study of Chinese medicine, and research on the concept of syndromes is important to the study of the process of modernization of traditional Chinese medicine. However, it is somewhat challenging to define a syndrome due to the complexity inherent in the subject, even with the assistance of the reductionism approach of modern medicine. Holistic and dynamic in nature and attaching much importance to functional changes, the newly emerging metabonomics is in many ways inline with the concepts of syndrome differentiation of pathological states in traditional Chinese medicine. Therefore, metabonomics has comparatively strong advantages in the very respect of revealing the natural laws of syndrome differentiation. By reviewing and analyzing the current research on the concept of syndromes and the application of metabonomic technology to exploring the essential core of syndrome differentiation, the authors illustrated the potential commonalities. This would also show the issues requiring attention between the study of syndromes and the metabonomic technology. In the meantime this study reflected the core problems in detail and put forward suggestions with regard to reaching solutions.

  1. Purification and Biochemical Characterization of Glutathione S-Transferase from Down Syndrome and Normal Children Erythrocytes: A Comparative Study

    ERIC Educational Resources Information Center

    Hamed, Ragaa R.; Maharem, Tahany M.; Abdel-Meguid, Nagwa; Sabry, Gilane M.; Abdalla, Abdel-Monem; Guneidy, Rasha A.

    2011-01-01

    Down syndrome (DS) is the phenotypic manifestation of trisomy 21. Our study was concerned with the characterization and purification of glutathione S-transferase enzyme (GST) from normal and Down syndrome (DS) erythrocytes to illustrate the difference in the role of this enzyme in the cell. Glutathione S-transferase and glutathione (GSH) was…

  2. Subthreshold Conditions as Precursors for Full Syndrome Disorders: A 15-Year Longitudinal Study of Multiple Diagnostic Classes

    ERIC Educational Resources Information Center

    Shankman, Stewart A.; Lewinsohn, Peter M.; Klein, Daniel N.; Small, Jason W.; Seeley, John R.; Altman, Sarah E.

    2009-01-01

    Background: There has been increasing interest in the distinction between subthreshold and full syndrome disorders and specifically whether subthreshold conditions escalate or predict the onset of full syndrome disorders over time. Most of these studies, however, examined whether a single subthreshold condition escalates into the full syndrome…

  3. Olmsted syndrome: report of a case with study of the cellular proliferation in keratoderma.

    PubMed

    Requena, L; Manzarbeitia, F; Moreno, C; Izquierdo, M J; Pastor, M A; Carrasco, L; Fariña, M C; Martín, L

    2001-12-01

    Olmsted syndrome is a rare disorder that consists of sharply marginated keratoderma of the palms and soles, constriction of digits and toes that may result in spontaneous amputation of the distal phalanges, hyperkeratotic plaques around the body orifices, onychodystrophy, and other less common cutaneous and extracutaneous anomalies. Although some patients had other affected family members, most cases of Olmsted syndrome seem to be of sporadic occurrence. We describe a patient with the characteristic features of Olmsted syndrome. The symptoms consisted of diffuse transgrediens palmoplantar keratoderma and keratotic plaques around the mouth and nose. Our patient also had the associated anomalies of hyperhidrosis of the palms and soles and congenital deaf-mutism. Histopathologic study of the keratoderma demonstrated epidermal hyperplasia with acanthosis, papillomatosis, and orthokeratotic hyperkeratosis. Immunohistochemical study showed more basal and suprabasal keratinocytes of the epidermis with immunoreactivity for Ki-67 marker when compared with the keratinocytes of the epidermis of the adjacent non-involved skin. These results support the notion that Olmsted syndrome is a hyperproliferative disorder of the epidermis. PMID:11801792

  4. Case-control study of sudden infant death syndrome in Scotland, 1992-5.

    PubMed Central

    Brooke, H.; Gibson, A.; Tappin, D.; Brown, H.

    1997-01-01

    OBJECTIVE: To investigate the relation between routine infant care practices and the sudden infant death syndrome in Scotland. METHODS: National study of 201 infants dying of the sudden infant death syndrome (cases) and 276 controls by means of home interviews comparing methods of infant care and socioeconomic factors. RESULTS: Sleeping prone (odds ratio 6.96 (95% confidence interval 1.51 to 31.97) and drug treatment in the previous week (odds ratio 2.33 (1.10 to 4.94)) were more common in the cases than controls on multivariate analysis. Smoking was confirmed as a significant risk factor (odds ratio for mother and father both smoking 5.19 (2.26 to 11.91)). The risk increased with the number of parents smoking (P < 0.0001), with the number of cigarettes smoked by mother or father (P = 0.0001), and with bed sharing (P < 0.005). A new finding was an increased risk of dying of the syndrome for infants who slept at night on a mattress previously used by another infant or adult (odds ratio 2.51 (1.39 to 4.52)). However, this increased risk was not established for mattresses totally covered by polyvinyl chloride. CONCLUSIONS: Sleeping prone and parental smoking are confirmed as modifiable risk factors for the sudden infant death syndrome. Sleeping on an old mattress may be important but needs confirmation before recommendations can be made. PMID:9169398

  5. Sotos syndrome: a study of the diagnostic criteria and natural history.

    PubMed Central

    Cole, T R; Hughes, H E

    1994-01-01

    Seventy-nine patients with a provisional diagnosis of Sotos syndrome were clinically assessed, and their photographs between the ages of 1 and 6 years evaluated. These photographs, together with photographs of first degree relatives, also at ages 1 to 6 years, were reviewed by four clinical geneticists. Forty-one probands (but no first degree relatives) were identified in whom the facial gestalt was thought to be characteristic of Sotos syndrome. Comparison of anthropometric measurements, bone age, and developmental delay in these 41 probands showed marked differences between them and the remaining 38 probands, and allowed the formulation of guidelines for the diagnosis of Sotos syndrome. Length was identified as the most significantly increased prenatal parameter. In childhood occipitofrontal head circumference (OFC), height, and weight were all increased. OFC remained above the 97th centile in all but one case throughout childhood and adulthood, whereas height and weight had a tendency to return towards the mean. This 'normalisation' was more pronounced in females and was probably related to their early puberty. Early developmental delay and an advanced bone age, seen in 100% and 84% respectively of study cases, may be invariable in Sotos syndrome, but selection bias and limited data prevented confirmation of this supposition. The authors suggest that facial gestalt, growth pattern, bone age, and developmental delay are the major diagnostic criteria. Using these criteria, no affected first degree relatives were identified. There were few long term medical complications in the probands, but behavioural difficulties caused considerable parental concern. Images PMID:7512144

  6. Understanding the Basis of Auriculocondylar Syndrome: Insights From Human and Mouse Genetic Studies

    PubMed Central

    Clouthier, David E.; Passos Bueno, Maria Rita; Tavares, Andre L.P.; Lyonnet, Stanislas; Amiel, Jeanne; Gordon, Christopher T.

    2014-01-01

    Among human birth defect syndromes, malformations affecting the face are perhaps the most striking due to cultural and psychological expectations of facial shape. One such syndrome is auriculocondylar syndrome (ACS), in which patients present with defects in ear and mandible development. Affected structures arise from cranial neural crest cells, a population of cells in the embryo that reside in the pharyngeal arches and give rise to most of the bone, cartilage and connective tissue of the face. Recent studies have found that most cases of ACS arise from defects in signaling molecules associated with the endothelin signaling pathway. Disruption of this signaling pathway in both mouse and zebrafish results in loss of identity of neural crest cells of the mandibular portion of the first pharyngeal arch and the subsequent repatterning of these cells, leading to homeosis of lower jaw structures into more maxillary-like structures. These findings illustrate the importance of endothelin signaling in normal human craniofacial development and illustrate how clinical and basic science approaches can coalesce to improve our understanding of the genetic basis of human birth syndromes. Further, understanding the genetic basis for ACS that lies outside of known endothelin signaling components may help elucidate unknown aspects critical to the establishment of neural crest cell patterning during facial morphogenesis. PMID:24123988

  7. Antipsychotic Medications and Risk of Acute Coronary Syndrome in Schizophrenia: A Nested Case-Control Study

    PubMed Central

    Liu, Hsing-Cheng; Yang, Shu-Yu; Liao, Ya-Tang; Chen, Chiao-Chicy; Kuo, Chian-Jue

    2016-01-01

    Background This study assessed the risk of developing acute coronary syndrome requiring hospitalization in association with the use of certain antipsychotic medications in schizophrenia patients. Methods A nationwide cohort of 31,177 inpatients with schizophrenia between the ages of 18 and 65 years whose records were enrolled in the National Health Insurance Research Database in Taiwan from 2000 to 2008 and were studied after encrypting the identifications. Cases (n = 147) were patients with subsequent acute coronary syndrome requiring hospitalization after their first psychiatric admission. Based on a nested case-control design, each case was matched with 20 controls for age, sex and the year of first psychiatric admission using risk-set sampling. The effects of antipsychotic agents on the development of acute coronary syndrome were assessed using multiple conditional logistic regression and sensitivity analyses to confirm any association. Results We found that current use of aripiprazole (adjusted risk ratio [RR] = 3.68, 95% CI: 1.27–10.64, p<0.05) and chlorpromazine (adjusted RR = 2.96, 95% CI: 1.40–6.24, p<0.001) were associated with a dose-dependent increase in the risk of developing acute coronary syndrome. Although haloperidol was associated with an increased risk (adjusted RR = 2.03, 95% CI: 1.20–3.44, p<0.01), there was no clear dose-dependent relationship. These three antipsychotic agents were also associated with an increased risk in the first 30 days of use, and the risk decreased as the duration of therapy increased. Sensitivity analyses using propensity score-adjusted modeling showed that the results were similar to those of multiple regression analysis. Conclusions Patients with schizophrenia who received aripiprazole, chlorpromazine, or haloperidol could have a potentially elevated risk of developing acute coronary syndrome, particularly at the start of therapy. PMID:27657540

  8. A highly sensitive method for analysis of 7-dehydrocholesterol for the study of Smith-Lemli-Opitz syndrome[S

    PubMed Central

    Liu, Wei; Xu, Libin; Lamberson, Connor; Haas, Dorothea; Korade, Zeljka; Porter, Ned A.

    2014-01-01

    We describe a highly sensitive method for the detection of 7-dehydrocholesterol (7-DHC), the biosynthetic precursor of cholesterol, based on its reactivity with 4-phenyl-1,2,4-triazoline-3,5-dione (PTAD) in a Diels-Alder cycloaddition reaction. Samples of biological tissues and fluids with added deuterium-labeled internal standards were derivatized with PTAD and analyzed by LC-MS. This protocol permits fast processing of samples, short chromatography times, and high sensitivity. We applied this method to the analysis of cells, blood, and tissues from several sources, including human plasma. Another innovative aspect of this study is that it provides a reliable and highly reproducible measurement of 7-DHC in 7-dehydrocholesterol reductase (Dhcr7)-HET mouse (a model for Smith-Lemli-Opitz syndrome) samples, showing regional differences in the brain tissue. We found that the levels of 7-DHC are consistently higher in Dhcr7-HET mice than in controls, with the spinal cord and peripheral nerve showing the biggest differences. In addition to 7-DHC, sensitive analysis of desmosterol in tissues and blood was also accomplished with this PTAD method by assaying adducts formed from the PTAD “ene” reaction. The method reported here may provide a highly sensitive and high throughput way to identify at-risk populations having errors in cholesterol biosynthesis. PMID:24259532

  9. Brief Report: A Longitudinal Study of Excessive Smiling and Laughing in Children with Angelman Syndrome.

    PubMed

    Adams, Dawn; Horsler, Kate; Mount, Rebecca; Oliver, Chris

    2015-08-01

    Elevated laughing and smiling is a key characteristic of the Angelman syndrome behavioral phenotype, with cross-sectional studies reporting changes with environment and age. This study compares levels of laughing and smiling in 12 participants across three experimental conditions [full social interaction (with eye contact), social interaction with no eye contact, proximity only] at two data points. No differences were noted in frequency of laughing and smiling over time in any condition. However, with age as a covariate, the frequency of laughing and smiling decreased over time in the full social interaction (with eye contact) condition only. As this is the first longitudinal study to explore these behaviors in Angelman syndrome, the results suggest a gene-environment-time interaction within the behavioral phenotype.

  10. Brief Report: A Longitudinal Study of Excessive Smiling and Laughing in Children with Angelman Syndrome.

    PubMed

    Adams, Dawn; Horsler, Kate; Mount, Rebecca; Oliver, Chris

    2015-08-01

    Elevated laughing and smiling is a key characteristic of the Angelman syndrome behavioral phenotype, with cross-sectional studies reporting changes with environment and age. This study compares levels of laughing and smiling in 12 participants across three experimental conditions [full social interaction (with eye contact), social interaction with no eye contact, proximity only] at two data points. No differences were noted in frequency of laughing and smiling over time in any condition. However, with age as a covariate, the frequency of laughing and smiling decreased over time in the full social interaction (with eye contact) condition only. As this is the first longitudinal study to explore these behaviors in Angelman syndrome, the results suggest a gene-environment-time interaction within the behavioral phenotype. PMID:25749713

  11. The anatomy of extended limbic pathways in Asperger syndrome: a preliminary diffusion tensor imaging tractography study.

    PubMed

    Pugliese, Luca; Catani, Marco; Ameis, Stephanie; Dell'Acqua, Flavio; Thiebaut de Schotten, Michel; Murphy, Clodagh; Robertson, Dene; Deeley, Quinton; Daly, Eileen; Murphy, Declan G M

    2009-08-15

    It has been suggested that people with autistic spectrum disorder (ASD) have altered development (and connectivity) of limbic circuits. However, direct evidence of anatomical differences specific to white matter pathways underlying social behaviour and emotions in ASD is lacking. We used Diffusion Tensor Imaging Tractography to compare, in vivo, the microstructural integrity and age-related differences in the extended limbic pathways between subjects with Asperger syndrome and healthy controls. Twenty-four males with Asperger syndrome (mean age 23+/-12 years, age range: 9-54 years) and 42 age-matched male controls (mean age 25+/-10 years, age range: 9-54 years) were studied. We quantified tract-specific diffusivity measurements as indirect indexes of microstructural integrity (e.g. fractional anisotropy, FA; mean diffusivity, MD) and tract volume (e.g. number of streamlines) of the main limbic tracts. The dissected limbic pathways included the inferior longitudinal fasciculus, inferior frontal occipital fasciculus, uncinate, cingulum and fornix. There were no significant between-group differences in FA and MD. However, compared to healthy controls, individuals with Asperger syndrome had a significantly higher number of streamlines in the right (p=.003) and left (p=.03) cingulum, and in the right (p=.03) and left (p=.04) inferior longitudinal fasciculus. In contrast, people with Asperger syndrome had a significantly lower number of streamlines in the right uncinate (p=.02). Within each group there were significant age-related differences in MD and number of streamlines, but not FA. However, the only significant age-related between-group difference was in mean diffusivity of the left uncinate fasciculus (Z(obs)=2.05) (p=.02). Our preliminary findings suggest that people with Asperger syndrome have significant differences in the anatomy, and maturation, of some (but not all) limbic tracts.

  12. Comorbidity, knowledge and attitude towards sex among patients with Dhat syndrome: A retrospective study.

    PubMed

    Grover, Sandeep; Gupta, Sunil; Mehra, Aseem; Avasthi, Ajit

    2015-10-01

    This study aimed to assess the knowledge about sex, attitude towards sex, prevalence of psychiatric comorbidity and relationship of the comorbidity with onset of symptoms of Dhat syndrome. Treatment records of 264 patients diagnosed with Dhat syndrome were reviewed for clinical profile including psychiatric comorbidity and sexual dysfunction and information on sexual knowledge and attitude using Sex Knowledge and Attitude Questionnaire (SKAQ-II). None of the patients gave all the correct responses on the SKAQ-II. Poor knowledge about sexual matters was not limited to the semen formation only, but also involved other aspects of sexuality, like masturbation, relationship of pregnancy with orgasm in women, breast feeding and pregnancy, relationship of sexual desire with addictive drugs and sexually transmitted diseases can be cured by having sex with a virgin girl. Higher level of education showed significant association with better sexual knowledge and liberal attitude. There was significant positive correlation between sexual knowledge and attitude. About half (51.9%) of patients had at least one comorbid psychiatric disorder and/or sexual dysfunction. Among the psychiatric disorders, depressive disorders were the most common and premature ejaculation was the most common comorbid sexual dysfunction. Among those with comorbidity, symptoms of Dhat syndrome preceded the onset of other disorders. Patients with Dhat syndrome have high rates of comorbidity and poor sexual knowledge and less liberal attitude, which was not only limited to loss of semen but also involves other spheres of sexuality. Accordingly psychoeducation in patients of Dhat syndrome should not be limited to addressing the myths and lack of knowledge about semen formation, but also should address poor sexual knowledge on all the aspects related to sexuality and the negative attitude towards sex. PMID:26259894

  13. A study of bone densitometry in patients with complex regional pain syndrome after stroke

    PubMed Central

    Kumar, V; Kalita, J; Gujral, R; Sharma, V; Misra, U

    2001-01-01

    INTRODUCTION—This study was undertaken to evaluate the bone mineral density (BMD) in patients with complex regional pain syndrome type-I (CRPS-I) after stroke, and to correlate it with various clinical and neurophysiological parameters.
PATIENTS AND METHODS—Twenty patients with CRPS-I after stroke were included and a detailed neurological evaluation was carried out. The severity of CRPS-I was graded on the basis of shoulder hand syndrome score. All the patients underwent bone mineral densitometry of paralysed and non-paralysed forearm by dual energy x ray absorptiometry. The BMD of paralysed forearm was also compared with that of age matched healthy controls. Neurophysiological tests included sympathetic skin response in both upper and lower limbs and median somatosensory evoked potentials.
RESULTS—The mean age of patients was 57.2 (45-75) years and eight were females. Eight patients had severe weakness and 12 had moderate weakness of grade 2 on the hemiplegic side. There was significant reduction in BMD in the patients compared with controls (p<0.01). The bone density reduction correlated well with duration of illness (r = −0.673, p<0.01), shoulder hand syndrome score (r = −0.804, p<0.01), and Canadian neurological scale score (r = −0.738 p<0.01). Sympathetic skin response was not recordable bilaterally in all patients. Median somatosensory evoked potentials were not recordable in seven out of 20 patients who also had higher grade of CRPS-I.
CONCLUSION—Our results show significant reduction of BMD in patients with CRPS-I after stroke. The reduction in BMD correlates with the severity of shoulder hand syndrome score, degree of weakness, duration of hemiplegia, and the severity of stroke.


Keywords: stroke; complex regional pain syndrome type I; bone mineral density PMID:11470933

  14. GDNF Gene Is Associated With Tourette Syndrome in a Family Study

    PubMed Central

    Huertas-Fernández, Ismael; Gómez-Garre, Pilar; Madruga-Garrido, Marcos; Bernal-Bernal, Inmaculada; Bonilla-Toribio, Marta; Martín-Rodríguez, Juan Francisco; Cáceres-Redondo, María Teresa; Vargas-González, Laura; Carrillo, Fátima; Pascual, Alberto; Tischfield, Jay A.; King, Robert A.; Heiman, Gary A.; Mir, Pablo

    2016-01-01

    Background Tourette syndrome is a disorder characterized by persistent motor and vocal tics, and frequently accompanied by the comorbidities attention deficit hyperactivity disorder and obsessive-compulsive disorder. Impaired synaptic neurotransmission has been implicated in its pathogenesis. Our aim was to investigate the association of 28 candidate genes, including genes related to synaptic neurotransmission and neurotrophic factors, with Tourette syndrome. Methods We genotyped 506 polymorphisms in a discovery cohort from the United States composed of 112 families and 47 unrelated singletons with Tourette syndrome (201 cases and 253 controls). Genes containing significant polymorphisms were imputed to fine-map the signal(s) to potential causal variants. Allelic analyses in Tourette syndrome cases were performed to check the role in attention deficit hyperactivity disorder and obsessive-compulsive disorder comorbidities. Target polymorphisms were further studied in a replication cohort from southern Spain composed of 37 families and three unrelated singletons (44 cases and 73 controls). Results The polymorphism rs3096140 in glial cell line–derived neurotrophic factor gene (GDNF) was significant in the discovery cohort after correction (P = 1.5 × 10−4). No linkage disequilibrium was found between rs3096140 and other functional variants in the gene. We selected rs3096140 as target polymorphism, and the association was confirmed in the replication cohort (P = 0.01). No association with any comorbidity was found. Conclusions As a conclusion, a common genetic variant in GDNF is associated with Tourette syndrome. A defect in the production of GDNF could compromise the survival of parvalbumin interneurons, thus altering the excitatory/inhibitory balance in the corticostriatal circuitry. Validation of this variant in other family cohorts is necessary. PMID:26096985

  15. Comorbidity, knowledge and attitude towards sex among patients with Dhat syndrome: A retrospective study.

    PubMed

    Grover, Sandeep; Gupta, Sunil; Mehra, Aseem; Avasthi, Ajit

    2015-10-01

    This study aimed to assess the knowledge about sex, attitude towards sex, prevalence of psychiatric comorbidity and relationship of the comorbidity with onset of symptoms of Dhat syndrome. Treatment records of 264 patients diagnosed with Dhat syndrome were reviewed for clinical profile including psychiatric comorbidity and sexual dysfunction and information on sexual knowledge and attitude using Sex Knowledge and Attitude Questionnaire (SKAQ-II). None of the patients gave all the correct responses on the SKAQ-II. Poor knowledge about sexual matters was not limited to the semen formation only, but also involved other aspects of sexuality, like masturbation, relationship of pregnancy with orgasm in women, breast feeding and pregnancy, relationship of sexual desire with addictive drugs and sexually transmitted diseases can be cured by having sex with a virgin girl. Higher level of education showed significant association with better sexual knowledge and liberal attitude. There was significant positive correlation between sexual knowledge and attitude. About half (51.9%) of patients had at least one comorbid psychiatric disorder and/or sexual dysfunction. Among the psychiatric disorders, depressive disorders were the most common and premature ejaculation was the most common comorbid sexual dysfunction. Among those with comorbidity, symptoms of Dhat syndrome preceded the onset of other disorders. Patients with Dhat syndrome have high rates of comorbidity and poor sexual knowledge and less liberal attitude, which was not only limited to loss of semen but also involves other spheres of sexuality. Accordingly psychoeducation in patients of Dhat syndrome should not be limited to addressing the myths and lack of knowledge about semen formation, but also should address poor sexual knowledge on all the aspects related to sexuality and the negative attitude towards sex.

  16. Risk of solid tumors and hematological malignancy in persons with Turner and Klinefelter syndromes: A national cohort study.

    PubMed

    Ji, Jianguang; Zöller, Bengt; Sundquist, Jan; Sundquist, Kristina

    2016-08-15

    The risk of solid and hematological malignancy in patients with Turner syndrome, characterized by X chromosome monosomy in women, and Klinefelter syndrome, characterized with two and more X chromosomes in men, is not well established, but such evidence may have etiological implications on cancer development. We identified a total of 1,409 women with Turner syndrome and 1,085 men with Klinefelter syndrome from the Swedish Hospital Discharge and Outpatient Register. These individuals were further linked to the Swedish Cancer Register to examine the standardized incidence ratios (SIRs) of cancer using the general population without Turner and Klinefelter syndromes as reference. The overall risk of cancer was 1.34 for women with Turner syndrome; it was increased only for solid tumors. For a specific type of tumor, the risk of melanoma and central nervous system tumor was significantly increased. For persons with Klinefelter syndrome, the risk of solid tumors was decreased (SIR = 0.66), whereas the risk of hematological malignancy was increased (SIR = 2.72). Non-Hodgkin lymphoma and leukemia showed an increased SIR of 3.02 and 3.62, respectively. Our study supported the hypothesis that X chromosome plays an important role in the etiology of solid tumors. The underlying mechanisms for the increased incidence of non-Hodgkin lymphoma and leukemia in persons with Klinefelter syndrome need to be investigated further.

  17. Genome-Wide Association Study of Down Syndrome-Associated Atrioventricular Septal Defects

    PubMed Central

    Ramachandran, Dhanya; Zeng, Zhen; Locke, Adam E.; Mulle, Jennifer G.; Bean, Lora J.H.; Rosser, Tracie C.; Dooley, Kenneth J.; Cua, Clifford L.; Capone, George T.; Reeves, Roger H.; Maslen, Cheryl L.; Cutler, David J.; Feingold, Eleanor; Sherman, Stephanie L.; Zwick, Michael E.

    2015-01-01

    The goal of this study was to identify the contribution of common genetic variants to Down syndrome−associated atrioventricular septal defect, a severe heart abnormality. Compared with the euploid population, infants with Down syndrome, or trisomy 21, have a 2000-fold increased risk of presenting with atrioventricular septal defects. The cause of this increased risk remains elusive. Here we present data from the largest heart study conducted to date on a trisomic background by using a carefully characterized collection of individuals from extreme ends of the phenotypic spectrum. We performed a genome-wide association study using logistic regression analysis on 452 individuals with Down syndrome, consisting of 210 cases with complete atrioventricular septal defects and 242 controls with structurally normal hearts. No individual variant achieved genome-wide significance. We identified four disomic regions (1p36.3, 5p15.31, 8q22.3, and 17q22) and two trisomic regions on chromosome 21 (around PDXK and KCNJ6 genes) that merit further investigation in large replication studies. Our data show that a few common genetic variants of large effect size (odds ratio >2.0) do not account for the elevated risk of Down syndrome−associated atrioventricular septal defects. Instead, multiple variants of low-to-moderate effect sizes may contribute to this elevated risk, highlighting the complex genetic architecture of atrioventricular septal defects even in the highly susceptible Down syndrome population. PMID:26194203

  18. [Sudeck syndrome--a combined clinico-roentgenologic-nuclear medicine study].

    PubMed

    Schurawitzki, H; Wickenhauser, J; Fezoulidis, I; Sadil, V; Fialka, V

    1988-10-01

    147 patients with clinical suspicion of a Sudeck syndrome were submitted to X-ray and nuclear medical examinations. The clinical suspicion was confirmed in 122 patients. In six cases showing no X-ray symptoms, the diagnosis could only be confirmed by scintigraphy. A new classification of stages was necessary for therapeutic reasons: I = early stage, II = acute/subacute stage, III = healing stage, IV = defective recovery. Modifications due to therapy were demonstrated early by 100 scintigraphic check-up examinations, whereas the evidence of such modifications in X-ray pictures was delayed. The study describes the X-ray morphology as well as the scintigraphic manifestations of the Sudeck syndrome. The study shows that scintigraphy is a valuable examination method. It is useful in diagnosing early stages often not detected in X-ray examination, in the assessment of the evolution of a disease, and in the classification of stages. PMID:2467419

  19. Complications of the naevoid basal cell carcinoma syndrome: results of a population based study.

    PubMed Central

    Evans, D G; Ladusans, E J; Rimmer, S; Burnell, L D; Thakker, N; Farndon, P A

    1993-01-01

    There are many potential complications which have been reported in association with the naevoid basal cell carcinoma syndrome. We have been able to show the relative frequencies of these problems in a population based study of 84 cases in the north west of England. The major complications of basal cell carcinomas and jaw cysts occur in over 90% of patients by 40 years of age, but may both occur before 10 years of age. Less well described complications are ovarian calcification or fibroma (24%), medulloblastoma (5%), cardiac fibroma (3%), cleft palate (5%), and ophthalmic abnormalities such as squint or cataract (26%). This study more clearly defines the possible complications of the syndrome and gives clearer guidelines for counselling and screening affected and at risk persons. Images PMID:8326488

  20. Genome-wide association study of periweaning failure-to-thrive syndrome (PFTS) in pigs.

    PubMed

    Zanella, R; Morés, N; Morés, M A Z; Peixoto, J O; Zanella, E L; Ciacci-Zanella, J R; Ibelli, A M G; Gava, D; Cantão, M E; Ledur, M C

    2016-06-25

    Porcine periweaning-failure-to-thrive syndrome (PFTS) is a condition that affects newly weaned piglets. It is characterised by a progressive debilitation leading to death, in the absence of infectious, nutritional, management or environmental factors. In this study, we present the first report of PFTS in South America and the results of a genome-wide association study to identify the genetic markers associated with the appearance of this condition in a crossbred swine population. Four chromosomal regions were associated with PFTS predisposition, one located on SSCX, one on SSC8, and the two other regions on SSC14. Regions on SSC8 and SSC14 harbour important functional candidate genes involved in human depression and might have an important role in PFTS. Our findings contribute to the increasing knowledge about this syndrome, which has been investigated since 2007, and to the identification of the aetiology of this disease. PMID:27162284

  1. Metabolic Syndrome Prevalence and Associations in a Bariatric Surgery Cohort from the Longitudinal Assessment of Bariatric Surgery-2 Study

    PubMed Central

    Selzer, Faith; Smith, Mark D.; Berk, Paul D.; Courcoulas, Anita P.; Inabnet, William B.; King, Wendy C.; Pender, John; Pomp, Alfons; Raum, William J.; Schrope, Beth; Steffen, Kristine J.; Wolfe, Bruce M.; Patterson, Emma J.

    2014-01-01

    Abstract Background: Metabolic syndrome is associated with higher risk for cardiovascular disease, sleep apnea, and nonalcoholic steatohepatitis, all common conditions in patients referred for bariatric surgery, and it may predict early postoperative complications. The objective of this study was to determine the prevalence of metabolic syndrome, defined using updated National Cholesterol Education Program criteria, in adults undergoing bariatric surgery and compare the prevalence of baseline co-morbid conditions and select operative and 30-day postoperative outcomes by metabolic syndrome status. Methods: Complete metabolic syndrome data were available for 2275 of 2458 participants enrolled in the Longitudinal Assessment of Bariatric Surgery-2 (LABS-2), an observational cohort study designed to evaluate long-term safety and efficacy of bariatric surgery in obese adults. Results: The prevalence of metabolic syndrome was 79.9%. Compared to those without metabolic syndrome, those with metabolic syndrome were significantly more likely to be men, to have a higher prevalence of diabetes and prior cardiac events, to have enlarged livers and higher median levels of liver enzymes, a history of sleep apnea, and a longer length of stay after surgery following laparoscopic Roux-en-Y gastric bypass (RYGB) and gastric sleeves but not open RYGB or laparoscopic adjustable gastric banding. Metabolic syndrome status was not significantly related to duration of surgery or rates of composite end points of intraoperative events and 30-day major adverse surgical outcomes. Conclusions: Nearly four in five participants undergoing bariatric surgery presented with metabolic syndrome. Establishing a diagnosis of metabolic syndrome in bariatric surgery patients may identify a high-risk patient profile, but does not in itself confer a higher risk for short-term adverse postsurgery outcomes. PMID:24380645

  2. Tonic vibration reflex in Holmes-Adie syndrome: an electrophysiological study

    PubMed Central

    Abbruzzese, Giovanni; Abbruzzese, Michele; Favale, Emilio; Ratto, Sandro

    1979-01-01

    The pathophysiological mechanisms underlying benign areflexia were studied in six patients with Holmes-Adie syndrome. No impairment of sensory conduction velocity of sural nerve was found. A normal tonic vibration reflex was obtained in all patients. H reflex was absent in five patients, but responses like F waves were recorded in three subjects. These findings suggest that muscle spindles are not affected and that spinal motoneurone excitability is normal. PMID:512669

  3. Diagnosis of Severe Carpal Tunnel Syndrome Using Nerve Conduction Study and Ultrasonography.

    PubMed

    Fujimoto, Kazuhiro; Kanchiku, Tsukasa; Kido, Kenji; Imajo, Yasuaki; Funaba, Masahiro; Taguchi, Toshihiko

    2015-10-01

    This study investigated the correlation between nerve conduction study and ultrasonographic findings for assessment of the usefulness of ultrasonography in determining carpal tunnel syndrome severity. Hands of adults with carpal tunnel syndrome were assessed using ultrasound and nerve conduction studies and grouped according to median nerve cross-sectional area (CSA). There were significant differences (p < 0.01) in mean median nerve CSA between controls, patients with median sensory nerve conduction velocity ≤40 m/s and patients with absent sensory nerve action potential and between controls, patients with median nerve distal motor latency ≥4.5 ms and patients with absent compound muscle action potentials of the abductor pollicis brevis. This is the first report to define median nerve CSA cutoff values (18 mm(2)) for determining carpal tunnel syndrome severity in patients with absent compound muscle action potentials of the abductor pollicis brevis. Median nerve CSA values below the cutoff values should prompt clinicians to consider other disorders, such as cervical compressive myelopathy.

  4. Protocol for a randomized controlled study of Iyengar yoga for youth with irritable bowel syndrome

    PubMed Central

    2011-01-01

    Introduction Irritable bowel syndrome affects as many as 14% of high school-aged students. Symptoms include discomfort in the abdomen, along with diarrhea and/or constipation and other gastroenterological symptoms that can significantly impact quality of life and daily functioning. Emotional stress appears to exacerbate irritable bowel syndrome symptoms suggesting that mind-body interventions reducing arousal may prove beneficial. For many sufferers, symptoms can be traced to childhood and adolescence, making the early manifestation of irritable bowel syndrome important to understand. The current study will focus on young people aged 14-26 years with irritable bowel syndrome. The study will test the potential benefits of Iyengar yoga on clinical symptoms, psychospiritual functioning and visceral sensitivity. Yoga is thought to bring physical, psychological and spiritual benefits to practitioners and has been associated with reduced stress and pain. Through its focus on restoration and use of props, Iyengar yoga is especially designed to decrease arousal and promote psychospiritual resources in physically compromised individuals. An extensive and standardized teacher-training program support Iyengar yoga's reliability and safety. It is hypothesized that yoga will be feasible with less than 20% attrition; and the yoga group will demonstrate significantly improved outcomes compared to controls, with physiological and psychospiritual mechanisms contributing to improvements. Methods/Design Sixty irritable bowel syndrome patients aged 14-26 will be randomly assigned to a standardized 6-week twice weekly Iyengar yoga group-based program or a wait-list usual care control group. The groups will be compared on the primary clinical outcomes of irritable bowel syndrome symptoms, quality of life and global improvement at post-treatment and 2-month follow-up. Secondary outcomes will include visceral pain sensitivity assessed with a standardized laboratory task (water load task

  5. A longitudinal study relating carpeting with sick building syndrome

    SciTech Connect

    Norbaeck, D.; Torgen, M. )

    1989-01-01

    A longitudinal questionnaire study was performed among personnel in two Swedish primary schools with wall-to-wall carpets and four schools with hard floor covering. The study groups consisted of all primary schools equipped with wall-to-wall carpets in the town of Uppsala, plus a random sample of two newer and two elderly primary schools with hard floor covering. In an initial cross-sectional study, the wall-to-wall carpet group reported an enhanced prevalence of eye and airway symptoms, face rashes, headache, abnormal tiredness and a sensation of being electrostatically charged in comparison with personnel in schools with hard floor covering. Since the enhanced prevalence of symptoms in the wall-to-wall carpets versus the hard floor covering group was also observed among persons without signs of atopy it was concluded that wall-to-wall carpets are not exclusively a problem for the sensitive atopic individual. The type of ventilation system (mechanical ventilation versus natural ventilation) had no significant effect on the symptom frequencies. After the removal of the wall-to-wall carpets, many of the reported symptoms decreased to a level similar to the group without previous or present exposure to such carpets. However, the frequency of airway symptoms remained enhanced among the wall-to-wall carpet group.

  6. A STUDY OF PREVALENCE AND PATTERN OF HYPERACTIVE SYNDROME IN PRIMARY SCHOOL CHILDREN

    PubMed Central

    Chawla, Prem Lata; Sahasi, G.; Sundaram, K. R.; Mehta, Manju

    1981-01-01

    SUMMARY Prevalence of hyperactive syndrome in 2160 primary school children between the age of 6-12 years was found to be 4.67%. The ratio of male, female distribution of hyperactive syndrome was found to be 4.74: 1. It was significantly associated with type of school (only in girls), age (only in boys) and occupation of father (only in boys). Hyperkinetic behaviour of children was not significantly associated with income of parents. Family structure and dynamics of hyperactive children studied did not reveal gross pathology. Some of the hyperactive children were found to be impulsive in their cognitive style and others experienced difficulties in visuo-spatial perception and visuo-motor coordination. PMID:22064370

  7. Vascular endothelial growth factor as a predictive marker for POEMS syndrome treatment response: retrospective cohort study

    PubMed Central

    Misawa, S; Sato, Y; Katayama, K; Hanaoka, H; Sawai, S; Beppu, M; Nomura, F; Shibuya, K; Sekiguchi, Y; Iwai, Y; Watanabe, K; Amino, H; Ohwada, C; Takeuchi, M; Sakaida, E; Nakaseko, C; Kuwabara, S

    2015-01-01

    Objective POEMS (polyneuropathy, organomegaly, endocrinopathy, M-protein and skin changes) syndrome is a rare multisystem disease characterised by plasma cell dyscrasia and overproduction of vascular endothelial growth factor (VEGF). VEGF is assumed to be useful in monitoring disease activity, because VEGF levels usually decrease after treatment. However, there is no study to investigate whether the extent of decrease in VEGF correlates with clinical outcome. We tested the predictive efficacy of serum VEGF levels in POEMS syndrome. Method This was an institutional review board approved retrospective observational cohort study of 20 patients with POEMS monitored regularly for more than 12 months (median follow-up, 87 months) after treatment onset using our prospectively accumulated database of POEMS from 1999 to 2015. Patients were treated by autologous peripheral blood stem cell transplantation or thalidomide administration. Serum VEGF was measured by ELISA. Outcome measures included clinical and laboratory findings and relapse-free survival. Results Serum VEGF levels decreased rapidly after treatment, and stabilised by 6 months post treatment. Patients with normalised serum VEGF levels (<1040 pg/mL) at 6 months showed prolonged relapse-free survival (HR=12.81, 95% CI 2.691 to 90.96; p=0.0001) and greater later clinical improvement. The rate of serum VEGF reduction over the first 6 months post treatment correlated with increased grip strength, serum albumin levels, and compound muscle action potential amplitudes at 12 months. Conclusions Serum VEGF level at 6 months post treatment is a predicative biomarker for disease activity and prognosis in POEMS syndrome. Serum VEGF could be used as a surrogate endpoint for relapse-free survival or clinical or laboratory improvement of POEMS syndrome for clinical trials. PMID:26560063

  8. A case-control study of the congenital hypothyroidism and dysmaturity syndrome of foals.

    PubMed Central

    Allen, A L; Townsend, H G; Doige, C E; Fretz, P B

    1996-01-01

    A case-control study was conducted to identify risk factors for the congenital hypothyroidism and dysmaturity syndrome of foals. A questionnaire was used during personal interviews of foal owners and farm managers to collect information on animal signalment, farm environment, and mare management. Information on 39 foals with the congenital hypothyroidism and dysmaturity syndrome were compared with 39 control foals. Foals with the syndrome had a significantly (P < 0.0001) longer gestation (357.6 d) than control foals (338.9 d). Pregnant mares that were fed greenfeed, did not receive any supplemental mineral, left their "home farm" during gestation, or grazed irrigated pasture had 13.1 (P = 0.0068), 5.6 (P = 0.0472), 4.3 (P = 0.0076), and approximately 15.3 (P = 0.0245), respectively, greater odds of producing an affected foal than mares not experiencing these events. Greenfeed often contains high levels of nitrate (NO3-), which is known to impair thyroid gland function. In light of this, forage samples from participating farms were analyzed for nitrate levels. The odds of one or more congenitally hypothyroid and dysmature foals being born on a farm feeding forage with at least a trace of nitrate was 8.0 times greater (P = 0.0873) than the odds of the disease occurring on a farm that fed forage free of nitrate. Further, the odds of a mare producing an affected foal when fed forage containing at least a trace of nitrate were 5.9 times greater (P = 0.0007) than those of a mare fed nitrate free forage. This study suggests that congenital hypothyroidism and dysmaturity syndrome in foals may be the result of diets that contain nitrate or that are low in iodine being fed to pregnant mares. PMID:8689594

  9. Somatization in Post-Concussion Syndrome: A Retrospective Study

    PubMed Central

    Gibaldi, James C

    2016-01-01

    This is a retrospective study of concussion patient data conducted to analyze the prevalence of somatization in patients presenting with post-concussion symptoms. Patient records from June 2010 to December 2015 were examined for concussion history, psychosocial history, neuropsychological test results, validity scores, and a symptom severity scale. Records meeting inclusion criteria from 33 males and 27 females were located. The sample had an age range of 11–78 years with a mean age of 33.40 (SD +/- 7.5 years). A clinically significant number of patients (55%) were found to be somaticizing their symptoms and a significant majority (78%) of somaticizing patients reported no loss of consciousness, retrograde amnesia, or post-traumatic amnesia but their symptom validity scales were significantly exaggerated. Caution should be exercised by clinicians to ensure that the obtained results of neuropsychological testing are reliable and valid. It is very important for the clinician to take into account the entire patient history, including psychosocial factors (such as pre-existing psychological traits or conditions) and social influences (such as stressors in family dynamics or work/school activities that may be affecting the patient's complaints). PMID:27766190

  10. Genetics Home Reference: Costello syndrome

    MedlinePlus

    ... Y; Costello and CFC syndrome study group in Japan. Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: findings from a nationwide epidemiological survey. Am J ...

  11. How to diagnose a lipodystrophy syndrome.

    PubMed

    Vantyghem, Marie-Christine; Balavoine, Anne-Sophie; Douillard, Claire; Defrance, Frédérique; Dieudonne, Lucile; Mouton, Fanny; Lemaire, Christine; Bertrand-Escouflaire, Nicole; Bourdelle-Hego, Marie-Françoise; Devemy, Fabrice; Evrard, Anne; Gheerbrand, Dominique; Girardot, Caroline; Gumuche, Sophie; Hober, Christine; Topolinski, Hélène; Lamblin, Blandine; Mycinski, Bénédicte; Ryndak, Amélie; Karrouz, Wassila; Duvivier, Etienne; Merlen, Emilie; Cortet, Christine; Weill, Jacques; Lacroix, Dominique; Wémeau, Jean-Louis

    2012-06-01

    The spectrum of adipose tissue diseases ranges from obesity to lipodystrophy, and is accompanied by insulin resistance syndrome, which promotes the occurrence of type 2 diabetes, dyslipidemia and cardiovascular complications. Lipodystrophy refers to a group of rare diseases characterized by the generalized or partial absence of adipose tissue, and occurs with or without hypertrophy of adipose tissue in other sites. They are classified as being familial or acquired, and generalized or partial. The genetically determined partial forms usually occur as Dunnigan syndrome, which is a type of laminopathy that can also manifest as muscle, cardiac, neuropathic or progeroid involvement. Gene mutations encoding for PPAR-gamma, Akt2, CIDEC, perilipin and the ZMPSTE 24 enzyme are much more rare. The genetically determined generalized forms are also very rare and are linked to mutations of seipin AGPAT2, FBN1, which is accompanied by Marfan syndrome, or of BANF1, which is characterized by a progeroid syndrome without insulin resistance and with early bone complications. Glycosylation disorders are sometimes involved. Some genetically determined forms have recently been found to be due to autoinflammatory syndromes linked to a proteasome anomaly (PSMB8). They result in a lipodystrophy syndrome that occurs secondarily with fever, dermatosis and panniculitis. Then there are forms that are considered to be acquired. They may be iatrogenic (protease inhibitors in HIV patients, glucocorticosteroids, insulin, graft-versus-host disease, etc.), related to an immune system disease (sequelae of dermatopolymyositis, autoimmune polyendocrine syndromes, particularly associated with type 1 diabetes, Barraquer-Simons and Lawrence syndromes), which are promoted by anomalies of the complement system. Finally, lipomatosis is currently classified as a painful form (adiposis dolorosa or Dercum's disease) or benign symmetric multiple form, also known as Launois-Bensaude syndrome or Madelung

  12. Decreased cell proliferation and higher oxidative stress in fibroblasts from Down Syndrome fetuses. Preliminary study.

    PubMed

    Gimeno, Amparo; García-Giménez, José Luis; Audí, Laura; Toran, Nuria; Andaluz, Pilar; Dasí, Francisco; Viña, José; Pallardó, Federico V

    2014-01-01

    Down Syndrome is the most common chromosomal disease and is also known for its decreased incidence of solid tumors and its progeroid phenotype. Cellular and systemic oxidative stress has been considered as one of the Down Syndrome phenotype causes. We correlated, in a preliminary study, the fibroblast proliferation rate and different cell proliferation key regulators, like Rcan1 and the telomere length from Down Syndrome fetuses, with their oxidative stress profile and the Ribonucleic acid and protein expression of the main antioxidant enzymes together with their activity. Increased oxidized glutathione/glutathione ratio and high peroxide production were found in our cell model. These results correlated with a distorted antioxidant shield. The messenger RNA (SOD1) and protein levels of copper/zinc superoxide dismutase were increased together with a decreased mRNA expression and protein levels of glutathione peroxidase (GPx). As a consequence the [Cu/ZnSOD/(catalase+GPx)] activity ratio increases which explains the oxidative stress generated in the cell model. In addition, the expression of thioredoxin 1 and glutaredoxin 1 is decreased. The results obtained show a decreased antioxidant phenotype that correlates with increased levels of Regulator of calcineurin 1 and attrition of telomeres, both related to oxidative stress and cell cycle impairment. Our preliminary results may explain the proneness to a progeroid phenotype. PMID:24184606

  13. Cognitive stimulation of pupils with Down syndrome: A study of inferential talk during book-sharing.

    PubMed

    Engevik, Liv Inger; Næss, Kari-Anne B; Hagtvet, Bente E

    2016-08-01

    In the education of pupils with Down syndrome, "simplifying" literal talk and concrete stimulation have typically played a dominant role. This explorative study investigated the extent to which teachers stimulated abstract cognitive functions via inferential talk during book-sharing and how pupils with Down syndrome responded. Dyadic interactions (N=7) were videotaped, transcribed and coded to identify levels of abstraction in teacher utterances and to evaluate the adequacy of pupil responses. One-third of the teachers' utterances contained high levels of abstraction and promoted inferential talk. Six of the seven children predominantly responded in ways which revealed inferential thinking. Dialog excerpts highlighted individual, contextual and interactional factors contributing to variations in the findings. Contrary to previous claims, the children with Down syndrome in the current sample appear able to draw inferences beyond the "here-and-now" with teacher support. This finding highlights the educational relevance and importance of higher-order cognitive stimulation of pupils with intellectual disabilities, to foster independent metacognitive skills. PMID:27214682

  14. Decreased cell proliferation and higher oxidative stress in fibroblasts from Down Syndrome fetuses. Preliminary study.

    PubMed

    Gimeno, Amparo; García-Giménez, José Luis; Audí, Laura; Toran, Nuria; Andaluz, Pilar; Dasí, Francisco; Viña, José; Pallardó, Federico V

    2014-01-01

    Down Syndrome is the most common chromosomal disease and is also known for its decreased incidence of solid tumors and its progeroid phenotype. Cellular and systemic oxidative stress has been considered as one of the Down Syndrome phenotype causes. We correlated, in a preliminary study, the fibroblast proliferation rate and different cell proliferation key regulators, like Rcan1 and the telomere length from Down Syndrome fetuses, with their oxidative stress profile and the Ribonucleic acid and protein expression of the main antioxidant enzymes together with their activity. Increased oxidized glutathione/glutathione ratio and high peroxide production were found in our cell model. These results correlated with a distorted antioxidant shield. The messenger RNA (SOD1) and protein levels of copper/zinc superoxide dismutase were increased together with a decreased mRNA expression and protein levels of glutathione peroxidase (GPx). As a consequence the [Cu/ZnSOD/(catalase+GPx)] activity ratio increases which explains the oxidative stress generated in the cell model. In addition, the expression of thioredoxin 1 and glutaredoxin 1 is decreased. The results obtained show a decreased antioxidant phenotype that correlates with increased levels of Regulator of calcineurin 1 and attrition of telomeres, both related to oxidative stress and cell cycle impairment. Our preliminary results may explain the proneness to a progeroid phenotype.

  15. A clinical study of Gilles de la Tourette syndrome in the United Kingdom.

    PubMed Central

    Lees, A J; Robertson, M; Trimble, M R; Murray, N M

    1984-01-01

    The clinical features of 53 British-born patients with Gilles de la Tourette syndrome are described. The mean age at onset of body tics was seven years and for vocalisations 11 years. Coprolalia was present in 39%, copropraxia in 21%, echolalia in 46% and echopraxia in 21%. Complicated antics and mannerisms were also common, often involving the compulsive touching of objects or self-injurious behaviour. Forty-six per cent of cases had a family history of tics in a single close relative and in two individuals a further member of the family had Gilles de la Tourette syndrome. Focal dystonia was present in four patients who had never received neuroleptics drugs and chorea was seen in two other untreated patients. In three patients acoustic startle consistently induced brief eye blink followed by a whole body jerk or jump. Rapid repetitive movements of the hands increased the frequency and severity of tics in 13 patients, but the performance of mental arithmetic under time pressure had a much more unpredictable effect. Electroencephalographic abnormalities occurred in eight (13%) but no definite CT brain scan abnormalities were detected. The incidence of left handedness did not differ from that in the general population and no evidence to suggest organic impairment was found on neuropsychological testing. This study provides no support for the notion that Gilles de la Tourette syndrome is a degenerative disorder of the central nervous system but provides some evidence for heterogeneity. PMID:6582230

  16. Denervation of the renal arteries in metabolic syndrome: the DREAMS-study.

    PubMed

    Verloop, Willemien L; Spiering, Wilko; Vink, Eva E; Beeftink, Martine M A; Blankestijn, Peter J; Doevendans, Pieter A; Voskuil, Michiel

    2015-04-01

    Chronic elevation of sympathetic nervous system is a key factor in metabolic syndrome. Because renal denervation (RDN) is thought to modulate sympathetic activity, we performed the Denervation of the Renal Arteries in Metabolic Syndrome (DREAMS)-study to investigate the effects of RDN on insulin sensitivity and blood pressure (BP) in patients with metabolic syndrome. Twenty-nine patients fulfilling the criteria for metabolic syndrome and who used a maximum of 1 antihypertensive or 1 antidiabetic drug or 1 of both gave informed consent and were treated by RDN. Glucose tolerance tests and 24-hour ambulatory BP measurements were performed at baseline, at 6 and 12 months of follow-up. Moreover, we performed self-monitored BP measurements at home every month. To assess sympathetic activity, we performed muscle sympathetic nerve activity and heart rate variability measurements at baseline and follow-up. The majority of the included patients was men (57%), mean body mass index was 31±5 kg/m(2). Median insulin sensitivity as assessed by the Simple Index assessing Insulin Sensitivity oral glucose tolerance test did not change at 6- and 12-month follow-up (P=0.60 and P=0.77, respectively). Mean 24-hour BP decreased by 6±12/5±7 mm Hg 12 months after RDN (P=0.04/0.01). However, self-monitored BP measurements data showed no reduction over time. Measurements of sympathetic activity showed no reduction in systemic sympathetic activity. In conclusion, RDN did not lead to a significant improvement of insulin sensitivity ≤12 months after treatment. Although a significant reduction in ambulatory BP was observed in this nearly drug-naïve population, the self-monitored BP measurements data suggest that this may be explained by regression to the mean. Moreover, no effect in systemic sympathetic activity was observed.

  17. Skin Biophysical Characteristics in Patients with Keratoconus: A Controlled Study

    PubMed Central

    Robati, Reza M.; Einollahi, Bahram; Einollahi, Hoda; Younespour, Shima; Fadaifard, Shahed

    2016-01-01

    Background. Keratoconus is a relatively common corneal disease causing significant visual disability. Individuals with connective tissue disorders that affect the skin such as Marfan's syndrome and Ehlers-Danlos syndrome or patients with atopic dermatitis show an increased prevalence of keratoconus. It seems that there are some concurrent alterations of skin and cornea in patients with keratoconus. Objective. We plan to compare skin biophysical characteristics in patients with keratoconus and healthy controls. Methods. Forty patients with keratoconus (18 females and 22 males) with mean (SD) age of 33.32 (9.55) years (range 19–56) and 40 healthy controls were recruited to this study. Skin biophysical characteristics including cutaneous resonance running time (CRRT), stratum corneum hydration, and melanin values were measured in patients and controls. Results. The median CRRT, stratum corneum hydration, and melanin measurements were significantly lower in patients with keratoconus in comparison with healthy controls. Conclusion. There are some alterations of skin biophysical properties in patients with keratoconus. Therefore, the assessment of these skin parameters could provide us some clues to the possible common biophysical variations of cornea and skin tissue in diseases such as keratoconus. PMID:27403376

  18. Skin Biophysical Characteristics in Patients with Keratoconus: A Controlled Study.

    PubMed

    Robati, Reza M; Einollahi, Bahram; Einollahi, Hoda; Younespour, Shima; Fadaifard, Shahed

    2016-01-01

    Background. Keratoconus is a relatively common corneal disease causing significant visual disability. Individuals with connective tissue disorders that affect the skin such as Marfan's syndrome and Ehlers-Danlos syndrome or patients with atopic dermatitis show an increased prevalence of keratoconus. It seems that there are some concurrent alterations of skin and cornea in patients with keratoconus. Objective. We plan to compare skin biophysical characteristics in patients with keratoconus and healthy controls. Methods. Forty patients with keratoconus (18 females and 22 males) with mean (SD) age of 33.32 (9.55) years (range 19-56) and 40 healthy controls were recruited to this study. Skin biophysical characteristics including cutaneous resonance running time (CRRT), stratum corneum hydration, and melanin values were measured in patients and controls. Results. The median CRRT, stratum corneum hydration, and melanin measurements were significantly lower in patients with keratoconus in comparison with healthy controls. Conclusion. There are some alterations of skin biophysical properties in patients with keratoconus. Therefore, the assessment of these skin parameters could provide us some clues to the possible common biophysical variations of cornea and skin tissue in diseases such as keratoconus. PMID:27403376

  19. The genetic basis of DOORS syndrome: an exome-sequencing study

    PubMed Central

    Campeau, Philippe M; Kasperaviciute, Dalia; Lu, James T; Burrage, Lindsay C; Kim, Choel; Hori, Mutsuki; Powell, Berkley R; Stewart, Fiona; Félix, Têmis Maria; van den Ende, Jenneke; Wisniewska, Marzena; Kayserili, Hülya; Rump, Patrick; Nampoothiri, Sheela; Aftimos, Salim; Mey, Antje; Nair, Lal D V; Begleiter, Michael L; De Bie, Isabelle; Meenakshi, Girish; Murray, Mitzi L; Repetto, Gabriela M; Golabi, Mahin; Blair, Edward; Male, Alison; Giuliano, Fabienne; Kariminejad, Ariana; Newman, William G; Bhaskar, Sanjeev S; Dickerson, Jonathan E; Kerr, Bronwyn; Banka, Siddharth; Giltay, Jacques C; Wieczorek, Dagmar; Tostevin, Anna; Wiszniewska, Joanna; Cheung, Sau Wai; Hennekam, Raoul C; Gibbs, Richard A; Lee, Brendan H; Sisodiya, Sanjay M

    2014-01-01

    Summary Background Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS) syndrome is a rare autosomal recessive disorder of unknown cause. We aimed to identify the genetic basis of this syndrome by sequencing most coding exons in affected individuals. Methods Through a search of available case studies and communication with collaborators, we identified families that included at least one individual with at least three of the five main features of the DOORS syndrome: deafness, onychodystrophy, osteodystrophy, intellectual disability, and seizures. Participants were recruited from 26 centres in 17 countries. Families described in this study were enrolled between Dec 1, 2010, and March 1, 2013. Collaborating physicians enrolling participants obtained clinical information and DNA samples from the affected child and both parents if possible. We did whole-exome sequencing in affected individuals as they were enrolled, until we identified a candidate gene, and Sanger sequencing to confirm mutations. We did expression studies in human fibroblasts from one individual by real-time PCR and western blot analysis, and in mouse tissues by immunohistochemistry and real-time PCR. Findings 26 families were included in the study. We did exome sequencing in the first 17 enrolled families; we screened for TBC1D24 by Sanger sequencing in subsequent families. We identified TBC1D24 mutations in 11 individuals from nine families (by exome sequencing in seven families, and Sanger sequencing in two families). 18 families had individuals with all five main features of DOORS syndrome, and TBC1D24 mutations were identified in half of these families. The seizure types in individuals with TBC1D24 mutations included generalised tonic-clonic, complex partial, focal clonic, and infantile spasms. Of the 18 individuals with DOORS syndrome from 17 families without TBC1D24 mutations, eight did not have seizures and three did not have deafness. In expression studies, some

  20. [Study on syndrome quantification, differentiation and classification of traditional Chinese medicine with data envelopment analysis].

    PubMed

    Meng, Qing-Bo; Yin, Yi-Xin; Zhang, De-Zheng; Yang, Guo-Ping

    2013-05-01

    To raise the syndrome sequence quantification, differentiation and classification algorithm based on data envelopment analysis for solving the modeling issue of syndrome differentiation and classification of traditional Chinese medicine (TCM). This algorithm has three steps: first, in order to obtain basic units for explaining pathogenesis, and establish a syndrome collection on this basis mechanisms of syndrome differentiation and classification were analyzed and classified according to TCM theory, mechanisms of syndrome differentiation and classification were analyzed and classified according to TCM theory; second, regularity and syndromes of corresponding prescriptions were sought according to the incidence and development progress of syndromes, and mathematical tools of data envelopment analysis were used to calculate state data of syndromes in each stage and obtain quantitative syndrome sequence; finally, syndrome sequence was taken as the measurement standard to quantify candidate syndromes and diagnostic information, and the similarity was calculated to obtain the matching degree between diagnostic information and candidate syndromes, so as to complete the syndrome differentiation and classification calculation. According to the results of model-based reasoning, the algorithm could indicate the regularity implied in prescription materials, and grasp the dynamic process of syndromes in an all-round way, and its results were verified through calculation and analysis on clinical cases. At least, it provides an idea for quantitative modeling of TCM.

  1. Lifestyle Factors and Risk of Restless Legs Syndrome: Prospective Cohort Study

    PubMed Central

    Batool-Anwar, Salma; Li, Yanping; De Vito, Katerina; Malhotra, Atul; Winkelman, John; Gao, Xiang

    2016-01-01

    Study Objectives: To examine the association between modifiable lifestyle factors, and the risk of developing restless legs syndrome (RLS). Methods: This is a Prospective Cohort study of population including 12,812 men participating in Health Professionals Follow-up Study and 42,728 women participating in the Nurses' Health study II. The participants were free of RLS at baseline (2002 for the HPFS and 2005 for the NHS II) and free of diabetes and arthritis through follow-up. RLS was assessed via a set of questions recommended by International Restless Legs Syndrome Study group. The Information was collected on height, weight, level of physical activity, dietary intake, and smoking status via questionnaires. Results: During 4–6 years of follow-up, we identified 1,538 incident RLS cases. Participants with normal weight, and who were physically active, non-smoker, and had some alcohol consumption had a lower risk of developing RLS. When we combined the effects of these four factors together, we observed a dose response relationship between the increased number of healthy lifestyle factors and a low risk of RLS: after adjusting for potential confounders the pooled odds ratio was 0.67 (95% CI: 0.47–0.97) for 4 vs.0 healthy factors (p trend < 0.001). In contrast, we did not observe significant associations between caffeine consumption or diet quality as assessed by the Alternate Healthy Eating Index, and altered RLS risk in men and women. Conclusions: Several modifiable lifestyle factors may play an important role in RLS risk. Citation: Batool-Anwar S, Li Y, De Vito K, Malhotra A, Winkelman J, Gao X. Lifestyle factors and risk of restless legs syndrome: prospective cohort study. J Clin Sleep Med 2016;12(2):187–194. PMID:26446243

  2. Acute coronary syndrome in young Sub-Saharan Africans: A prospective study of 21 cases

    PubMed Central

    2013-01-01

    Background Coronary heart disease remains the leading cause of death in developed countries. In Africa, the disease continues to rise with varying rates of progression in different countries. At present, there is little available work on its juvenile forms. The objective of this work was to study the epidemiological, clinical and evolutionary aspects of acute coronary syndrome in young Sub-Saharan Africans. Methods This was a prospective multicenter study done at the different departments of cardiology in Dakar. We included all patients of age 40 years and below, and who were admitted for acute coronary syndrome between January 1st, 2005 and July 31st, 2007. We collected and analyzed the epidemiological, clinical, paraclinical and evolutionary data of the patients. Results Hospital prevalence of acute coronary syndrome in young people was 0.45% (21/4627) which represented 6.8% of all cases of acute coronary syndrome admitted during the same period. There was a strong male predominance with a sex-ratio (M:F) of 6. The mean age of patients was 34 ± 1.9 years (range of 24 and 40 years). The main risk factor was smoking, found in 52.4% of cases and the most common presenting symptom was chest pain found in 95.2% of patients. The average time delay before medical care was 14.5 hours. Diagnosis of ST- elevation myocardial infarction in 85.7% of patients and non-ST-elevation myocardial infarction in 14.3% was made by the combination electrocardiographic features and troponin assay. Echocardiography found a decreased left ventricular systolic function in 37.5% of the patients and intraventricular thrombus in 20% of them. Thrombolysis using streptokinase was done in 44.4% of the patients with ST- elevation myocardial infarction. Hospital mortality was 14.3%. Conclusion Acute coronary syndrome is present in young Sub-Saharan Africans. The main risk factor found was smoking. PMID:24330283

  3. Prevalence of Metabolic Syndrome in Psoriasis Patients and its Relation to Disease Duration: A Hospital Based Case-Control Study

    PubMed Central

    Praveenkumar, Udayakumar; Ganguly, Satyaki; Nanda, Sunil Kumar; Kuruvila, Sheela

    2016-01-01

    Introduction Previous studies indicate a higher prevalence of metabolic syndrome in psoriatic patients. This study aimed to investigate the association of metabolic syndrome and its components with psoriasis. It also studied the relation between presence of metabolic syndrome and disease duration in psoriasis patients. Materials and Methods This was a hospital-based, case-control study conducted with 30 clinically diagnosed patients of chronic plaque psoriasis and 30 age- and sex-matched control subjects. Height, weight, BMI, blood pressure and waist circumference were assessed in all the subjects. Fasting levels of serum glucose, serum triglycerides and serum HDL were estimated by automated clinical chemistry analyser. Metabolic syndrome was diagnosed by the presence of at least 3 criteria of NCEP ATP III with Asian modification for waist circumference. Results Metabolic syndrome was more common in psoriatic patients than in controls but the difference was statistically insignificant (60% vs. 40%, p-value=0.12). The psoriasis group had a higher prevalence of elevated blood glucose levels and higher waist circumference compared to controls. Psoriasis patients had a higher prevalence of high triglyceride levels than controls, the difference being statistically insignificant (40% vs. 30%, p-value = 0.41). The prevalence of low HDL levels was significantly higher in cases compared to controls (86.7% vs. 60%, p-value = 0.02). There was no relation between presence of metabolic syndrome and duration of psoriasis. Conclusion Our findings suggest that metabolic syndrome as well as dyslipidaemia is commoner in psoriasis patients. This underlines the need for screening of all psoriasis patients for early diagnosis and treatment of associated metabolic syndrome to reduce the high burden of morbidity and mortality. PMID:27042565

  4. Paraneoplastic Syndromes

    PubMed Central

    Stolinsky, David C.

    1980-01-01

    Neoplasms can produce a variety of remote effects on the host; these are referred to as paraneoplastic syndromes. The syndromes may affect any of the systems of the body, may precede or follow the diagnosis of the underlying neoplasm, and may or may not parallel the course of the neoplasm in severity. The diagnosis of and therapy for these syndromes can be challenging to a physician, but successful therapy may bring about worthwhile relief for the patient. In addition, the syndromes and the substances that cause them are sometimes useful in diagnosing and in following the course of certain neoplasms. Perhaps of greater importance, study of these remote effects of neoplasia may shed light on the nature of the neoplastic process itself. PMID:6990627

  5. Dysregulated TGF-β signaling alters bone microstructure in a mouse model of Loeys-Dietz syndrome.

    PubMed

    Dewan, Ashvin K; Tomlinson, Ryan E; Mitchell, Stuart; Goh, Brian C; Yung, Rachel M; Kumar, Sarvesh; Tan, Eric W; Faugere, Marie-Claude; Dietz, Harry C; Clemens, Thomas L; Sponseller, Paul D

    2015-10-01

    Loeys-Dietz syndrome (LDS) is a connective tissue disorder characterized by vascular and skeletal abnormalities resembling Marfan syndrome, including a predisposition for pathologic fracture. LDS is caused by heterozygous mutations in the genes encoding transforming growth factor-β (TGF-β) type 1 and type 2 receptors. In this study, we characterized the skeletal phenotype of mice carrying a mutation in the TGF-β type 2 receptor associated with severe LDS in humans. Cortical bone in LDS mice showed significantly reduced tissue area, bone area, and cortical thickness with increased eccentricity. However, no significant differences in trabecular bone volume were observed. Dynamic histomorphometry performed in calcein-labeled mice showed decreased mineral apposition rates in cortical and trabecular bone with normal numbers of osteoblasts and osteoclasts. Mechanical testing of femurs by three-point bending revealed reduced femoral strength and fracture resistance. In vitro, osteoblasts from LDS mice demonstrated increased mineralization with enhanced expression of osteoblast differentiation markers compared with control cells. These changes were associated with impaired TGF-β1-induced Smad2 and Erk1/2 phosphorylation and upregulated TGF-β1 ligand mRNA expression, compatible with G357W as a loss-of-function mutation in the TGF-β type 2 receptor. Paradoxically, phosphorylated Smad2/3 in cortical osteocytes measured by immunohistochemistry was increased relative to controls, possibly suggesting the cross-activation of TGF-β-related receptors. The skeletal phenotype observed in the LDS mouse closely resembles the principal structural features of bone in humans with LDS and establishes this mouse as a valid in vivo model for further investigation of TGF-β receptor signaling in bone.

  6. Pilot Study of Blood Pressure in Girls With Turner Syndrome: An Awareness Gap, Clinical Associations, and New Hypotheses.

    PubMed

    Los, Evan; Quezada, Emilio; Chen, Zunqiu; Lapidus, Jodi; Silberbach, Michael

    2016-07-01

    Cardiovascular disease is the major factor that reduces lifespan in Turner syndrome. High blood pressure (BP) is common in Turner syndrome and is the most easily treatable cardiovascular risk factor. We studied the prevalence of elevated screening systemic BP, awareness of the problem, and its clinical associations in a large group of girls attending the annual meeting of the Turner Syndrome Society of the United States. Among 168 girls aged 2 to 17 years, 42% had elevated screening BP (systolic and diastolic), yet only 8% reported a previous diagnosis of hypertension. History of aortic coarctation repair (17%) was positively associated with elevated systolic BP (52% versus 32%; P<0.05). Elevated systolic BP was positively associated with obesity (56% versus 31%; P<0.05). Because the prevalence of obesity in the studied population was similar to Center for Disease Control published data for obesity in all girls and the prevalence of increased BP is approximately twice that of the general population, the Turner syndrome phenotype/genotype probably includes an intrinsic risk for hypertension. Obesity and repaired aortic coarctation increase this risk further. There seems to be a BP awareness gap in girls with Turner syndrome. Because girls living with Turner syndrome are a sensitized population for hypertension, further study may provide clues to genetic factors leading to a better understanding of essential hypertension in the general population.

  7. Pilot Study of Blood Pressure in Girls With Turner Syndrome: An Awareness Gap, Clinical Associations, and New Hypotheses.

    PubMed

    Los, Evan; Quezada, Emilio; Chen, Zunqiu; Lapidus, Jodi; Silberbach, Michael

    2016-07-01

    Cardiovascular disease is the major factor that reduces lifespan in Turner syndrome. High blood pressure (BP) is common in Turner syndrome and is the most easily treatable cardiovascular risk factor. We studied the prevalence of elevated screening systemic BP, awareness of the problem, and its clinical associations in a large group of girls attending the annual meeting of the Turner Syndrome Society of the United States. Among 168 girls aged 2 to 17 years, 42% had elevated screening BP (systolic and diastolic), yet only 8% reported a previous diagnosis of hypertension. History of aortic coarctation repair (17%) was positively associated with elevated systolic BP (52% versus 32%; P<0.05). Elevated systolic BP was positively associated with obesity (56% versus 31%; P<0.05). Because the prevalence of obesity in the studied population was similar to Center for Disease Control published data for obesity in all girls and the prevalence of increased BP is approximately twice that of the general population, the Turner syndrome phenotype/genotype probably includes an intrinsic risk for hypertension. Obesity and repaired aortic coarctation increase this risk further. There seems to be a BP awareness gap in girls with Turner syndrome. Because girls living with Turner syndrome are a sensitized population for hypertension, further study may provide clues to genetic factors leading to a better understanding of essential hypertension in the general population. PMID:27217413

  8. Study on TCM Syndrome Differentiation of Primary Liver Cancer Based on the Analysis of Latent Structural Model.

    PubMed

    Gu, Zhan; Qi, Xiuzhong; Zhai, Xiaofeng; Lang, Qingbo; Lu, Jianying; Ma, Changping; Liu, Long; Yue, Xiaoqiang

    2015-01-01

    Primary liver cancer (PLC) is one of the most common malignant tumors because of its high incidence and high mortality. Traditional Chinese medicine (TCM) plays an active role in the treatment of PLC. As the most important part in the TCM system, syndrome differentiation based on the clinical manifestations from traditional four diagnostic methods has met great challenges and questions with the lack of statistical validation support. In this study, we provided evidences for TCM syndrome differentiation of PLC using the method of analysis of latent structural model from clinic data, thus providing basis for establishing TCM syndrome criteria. And also we obtain the common syndromes of PLC as well as their typical clinical manifestations, respectively.

  9. The Experience of Women Affected by Polycystic Ovary Syndrome: A Qualitative Study From Iran

    PubMed Central

    Nasiri Amiri, Fatemeh; Ramezani Tehrani, Fahimeh; Simbar, Masoumeh; Montazeri, Ali; Mohammadpour Thamtan, Reza Ali

    2014-01-01

    Background: Polycystic ovary syndrome (PCOS) is the most common chronic endocrine disorder. It has significant and diverse clinical consequences including reproductive, metabolic, and psychological morbidities as well as predisposition to malignancies. It is unclear how women with PCOS experience symptoms of this syndrome. Objectives: The aim of this study was to clarify the dimensions and components of quality of life in iranian women with PCOS. Patients and Methods: This study was a qualitative study to explore and document perceptions of women with PCOS about their disorder and quality of life. Semi-structured interviews with open ended questions were conducted with 23 women with PCOS. The interviews were continued to reach data saturation. The study was conducted in the Reproductive Endocrinology Research Center of Shahid Beheshti University of Medical Sciences. All the interviews were recorded and transcribed. Constant comparative analysis of the data was conducted manually according to the Strauss and Corbin analysis method. Results: The study revealed that the most important factors affecting quality of life in women with PCOS were the role functioning items as well as physical, mental, emotional, cognitive, and social dimensions. Conclusions: Comprehensive cares concerning various mental, emotional, cognitive, and social dimensions of quality of life should be planned for women with PCOS. PMID:24829583

  10. Lennox-Gastaut Syndrome

    MedlinePlus

    ... Lennox-Gastaut syndrome is a severe form of epilepsy. Seizures usually begin before 4 years of age. ... broad program of basic and clinical research on epilepsy including Lennox-Gastaut syndrome. These studies are aimed ...

  11. Comparison of Components of Metabolic Syndrome in Premature Myocardial Infarction in an Iranian Population: A Case -Control Study

    PubMed Central

    Kazemi, Toba; Sharifzadeh, Gholamreza; Zarban, Asghar; Fesharakinia, Azita

    2013-01-01

    Background: Metabolic syndrome is a major risk factor for coronary artery disease (CAD). Aim: Aim of this study was to determine the prevalence of metabolic syndrome in patients with premature myocardial infarction (before 50 years of age). Methods: In this case–control study, we compared 98 consecutive patients who were hospitalized in Birjand with acute first myocardial infarction before the age of 50 years and 98 age- and sex-matched healthy controls without a history of coronary artery disease. The case and control groups were categorized according to the National Cholesterol Education Program Adult Treatment Panel (NCEP ATP III) metabolic syndrome criteria [presence of ≥3 of the following: Fasting blood glucose ≥100 mg/dL, triglyceride (TG) level ≥150 mg/dL, low high density lipoprotein (HDL; <40 mg/dL in men and <50 mg/dL in women), blood pressure ≥130/85 mm Hg, and waist circumference >102 cm in men or 88 cm in women]. The data were collected and analyzed by t-test, χ2, and logistic regression in SPSS software 11.5. Results: Prevalence of metabolic syndrome was significantly higher in cases than in control group (34.7% in cases, 16.3% in controls, P=0.003). All components of metabolic syndrome except high waist circumstance in the cases group were significantly higher than in control. The most common component of metabolic syndrome was high TG and the least common component was low HDL. Conclusion: We conclude that prevalence of metabolic syndrome in patients with premature myocardial infarction is high; high TG is the most common component of metabolic syndrome. PMID:23411742

  12. Facial Image Classification of Mouse Embryos for the Animal Model Study of Fetal Alcohol Syndrome

    PubMed Central

    Fang, Shiaofen; Liu, Ying; Huang, Jeffrey; Vinci-Booher, Sophia; Anthony, Bruce; Zhou, Feng

    2010-01-01

    Fetal Alcohol Syndrome (FAS) is a developmental disorder caused by maternal drinking during pregnancy. Computerize imaging techniques have been applied to study human facial dysmorphology associated with FAS. This paper describes a new facial image analysis method based on a multi-angle image classification technique using micro-video images of mouse embryo. Images taken from several different angles are analyzed separately, and the results are combined for classifications that separate embryos with and without alcohol exposures. Analysis results from animal models provide critical references for the understanding of FAS and potential therapy solutions for human patients. PMID:20502627

  13. Increased serum levels of apoptosis in deficit syndrome schizophrenia patients: a preliminary study

    PubMed Central

    Beyazyüz, Murat; Küfeciler, Tarkan; Bulut, Leyla; Ünsal, Cüneyt; Albayrak, Yakup; Akyol, Esra Soydaş; Baykal, Saliha; Kuloglu, Murat; Hashimoto, Kenji

    2016-01-01

    Background Schizophrenia is a chronic and debilitating disorder, the etiology of which remains unclear. Apoptosis is a programmed cell death mechanism that might be implicated in neuropsychiatric disorders, including schizophrenia. In this study, we aimed to compare the serum levels of apoptosis among deficit schizophrenia (DS) syndrome patients, nondeficit schizophrenia (NDS) patients, and healthy controls (HCs). Patients and methods After the inclusion and exclusion criteria were applied, 23 DS patients, 46 NDS patients, and 33 HCs were included in the study. The serum apoptosis levels were measured using a quantitative sandwich enzyme immunoassay with human monoclonal antibodies directed against DNA and histones. Results There was a significant difference among the three groups in terms of the levels of apoptosis (F2,96=16.58; P<0.001). The serum apoptosis levels in the DS and NDS groups were significantly higher than those in the HC group. Furthermore, the serum apoptosis levels in the DS group were significantly higher than the levels in the NDS group. Conclusion This study suggests that increased levels of apoptosis may be implicated in the pathophysiology of DS syndrome. However, further studies are needed to support the role of apoptosis in DS. PMID:27307738

  14. The Werner syndrome. A model for the study of human aging.

    PubMed

    Nehlin, J O; Skovgaard, G L; Bohr, V A

    2000-06-01

    Human aging is a complex process that leads to the gradual deterioration of body functions with time. Various models to approach the study of aging have been launched over the years such as the genetic analysis of life span in the yeast S. cerevisiae, the worm C. elegans, the fruitfly, and mouse, among others. In human models, there have been extensive efforts using replicative senescence, the study of centenerians, comparisons of young versus old at the organismal, cellular, and molecular levels, and the study of premature aging syndromes to understand the mechanisms leading to aging. One good model for studying human aging is a rare autosomal recessive disorder known as the Werner syndrome (WS), which is characterized by accelerated aging in vivo and in vitro. A genetic defect implicated in WS was mapped to the WRN locus. Mutations in this gene are believed to be associated, early in adulthood, with clinical symptoms normally found in old individuals. WRN functions as a DNA helicase, and recent evidence, summarized in this review, suggests specific biochemical roles for this multifaceted protein. The interaction of WRN protein with RPA (replication protein A) and p53 will undoubtedly direct efforts to further dissect the genetic pathway(s) in which WRN protein functions in DNA metabolism and will help to unravel its contribution to the human aging process.

  15. Lumbar facet injection for the treatment of chronic piriformis myofascial pain syndrome: 52 case studies

    PubMed Central

    Huang, Jen-Ting; Chen, Han-Yu; Hong, Chang-Zern; Lin, Ming-Ta; Chou, Li-Wei; Chen, Hsin-Shui; Tsai, Chien-Tsung; Chang, Wen-Dien

    2014-01-01

    Background and aims The aim of this study was to demonstrate the effectiveness of lumbar facet joint injection for piriformis myofascial pain syndrome. Methods Fifty-two patients with chronic myofascial pain in the piriformis muscle each received a lumbar facet injection into the ipsilateral L5–S1 facet joint region, using the multiple insertion technique. Subjective pain intensity, trunk extension range, and lumbar facet signs were measured before, immediately after, and 2 weeks after injection. Thirty-six patients received follow-up for 6 months. Results Immediately after the injection, 27 patients (51.9%) had complete pain subsidence, 19 patients (36.5%) had pain reduction to a tolerable level, and only 6 patients (11.5%) had no pain relief to a tolerable level. Mean pain intensity was reduced from 7.4±0.9 to 1.6±2.1 after injection (P<0.01). This effectiveness lasted for 2 weeks in 49 patients (94.2%), and lasted for approximately 6 months in 35 (97.2%) of 36 patients. The mean range of motion increased from 13.4±6.8 degrees to 22.1±6.0 degrees immediately after injection, and further increased 2 weeks and 6 months later. Immediately after injection, 45 patients (86.5%) had no facet sign. In addition, 90.4% and 94.4% of patients had no facet sign after 2 weeks and after 6 months, respectively. Conclusions It is important to identify the possible cause of piriformis myofascial pain syndrome. If this pain is related to lumbar facet lesions, lumbar facet joint injection can immediately suppress piriformis myofascial pain symptoms. This effectiveness may last for at least 6 months in most patients. This study further supports the importance of eliminating the underlying etiological lesion for complete and effective relief of myofascial pain syndrome. PMID:25170256

  16. Photoanthropometric study of craniofacial traits of individuals with Prader-Willi syndrome.

    PubMed

    Butler, M G; Levine, G J; Le, J Y; Hall, B D; Cassidy, S B

    1995-07-31

    A photoanthropometric method, which enables an objective description of facial structures, was used to better delineate the craniofacial characteristics of 37 individuals with Prader-Willi syndrome (PWS; 21 males and 16 females; 22 with 15q11q13 deletions and 15 with normal-appearing chromosome 15s) between the ages of 0 to 12 years. Facial parameters were measured from strict frontal and profile photographic 35 mm slides and compared with other facial measurements from the same face (e.g., palpebral fissure width to bizygomatic diameter). We studied 16 photoanthropometric craniofacial indices following the protocols established by Stengel-Rutkowski et al. [1984: Hum Genet 67:272-295] and Butler et al. [1988: Am J Med Genet 30:165-168]. Based on our measurements of 37 Prader-Willi syndrome individuals, none of the parameters were consistently outside of the normal range when compared with photoanthropometric index standards for age established from white control children [Stengel-Rutkowski et al., 1984]. However, several suggestive findings were documented by our analysis including: narrow palpebral fissure width [particularly in older children (6-12 years)], high midface, broad interalar distance, short back of the nose, prominent high chin, and broad low-set ears. No significant differences were found in craniofacial parameters between deletion or nondeletion Prader-Willi syndrome patients with this methodology. These craniofacial parameters (many not previously evaluated in PWS patients) may become useful for early detection, and aid in the diagnosis and the study of the development of the characteristic face seen in Prader-Willi patients. PMID:7573154

  17. Connective tissue spectrum abnormalities associated with spontaneous cerebrospinal fluid leaks: a prospective study.

    PubMed

    Reinstein, Eyal; Pariani, Mitchel; Bannykh, Serguei; Rimoin, David L; Schievink, Wouter I

    2013-04-01

    We aimed to assess the frequency of connective tissue abnormalities among patients with cerebrospinal fluid (CSF) leaks in a prospective study using a large cohort of patients. We enrolled a consecutive group of 50 patients, referred for consultation because of CSF leak. All patients have been carefully examined for the presence of connective tissue abnormalities, and based on findings, patients underwent genetic testing. Ancillary diagnostic studies included echocardiography, eye exam, and histopathological examinations of skin and dura biopsies in selected patients. We identified nine patients with heritable connective tissue disorders, including Marfan syndrome, Ehlers-Danlos syndrome and other unclassified forms. In seven patients, spontaneous CSF leak was the first noted manifestation of the genetic disorder. We conclude that spontaneous CSF leaks are associated with a spectrum of connective tissue abnormalities and may be the first noted clinical presentation of the genetic disorder. We propose that there is a clinical basis for considering spontaneous CSF leak as a clinical manifestation of heritable connective tissue disorders, and we suggest that patients with CSF leaks should be screened for connective tissue and vascular abnormalities.

  18. Infrared thermography as a diagnostic tool to indicate sick-house-syndrome: a case-study

    NASA Astrophysics Data System (ADS)

    Ljungberg, Sven-Ake

    1996-03-01

    Every third child and many adults in Sweden have allergic reactions caused by indoor environmental problems. A lot of buildings constructed during the building-boom period of 1950 - 1990 expose the sick-house-syndrome, due to built-in moisture problems and poor ventilation performance of the building. Leaky building construction, transport of humid air condensing on thermal bridges within the construction gives rise to a humid environment, and forms a base for a microbial deterioration process of organic materials, with emissions hazardous for human health. So far there are no universal and cost efficient techniques or methods developed which could be used to reveal the sick-house-syndrome. In this paper we present the results of a case-study of the sick-house-syndrome, and an investigation concept with a combination of different techniques and methods to detect and to map underlying factors that form the base for microbial activities. The concept includes mobile and indoor thermography, functional control of ventilation systems, tracer gas techniques for measurement of air flow exchange rate in different rooms, microbial investigation of emissions, field inspections within the building construction and the building envelope, and medical investigation of the health status of the people working in the building. Mobile thermography of the exterior facades has been performed with a longwave AGEMA THV 900, respectively THV 1000 infrared system, during the period December 1994 - June 1995, at different and similar weather and radiation conditions, and with the building pressurized at one accession. Indoor thermography has been performed with a shortwave AGEMA THV 470 system, for a selection of objects/surfaces with thermal deviations, indicated in thermograms from the different mobile thermographic surveys. Functional control was performed for the ventilation systems, and air flow rates were measured using tracer gas technique for a selection of rooms with different

  19. Gene, brain, and behavior relationships in fragile X syndrome: evidence from neuroimaging studies.

    PubMed

    Lightbody, Amy A; Reiss, Allan L

    2009-01-01

    Fragile X syndrome (FraX) remains the most common inherited cause of intellectual disability and provides a valuable model for studying gene-brain-behavior relationships. Over the past 15 years, structural and functional magnetic resonance imaging studies have emerged with the goal of better understanding the neural pathways contributing to the cognitive and behavioral outcomes seen in individuals with FraX. Specifically, structural MRI studies have established and begun to refine the specific topography of neuroanatomical variation associated with FraX. In addition, functional neuroimaging studies have begun to elucidate the neural underpinnings of many of the unique characteristics of FraX including difficulties with eye gaze, executive functioning, and behavioral inhibition. This review highlights studies with a focus on the relevant gene-brain-behavior connections observed in FraX. The relationship of brain regions and activation patterns to FMRP are discussed as well as the clinical cognitive and behavioral correlates of these neuroimaging findings.

  20. Predicting the Onset of Anxiety Syndromes at 12 Months in Primary Care Attendees. The PredictA-Spain Study

    PubMed Central

    Moreno-Peral, Patricia; Luna, Juan de Dios; Marston, Louise; King, Michael; Nazareth, Irwin; Motrico, Emma; GildeGómez-Barragán, María Josefa; Torres-González, Francisco; Montón-Franco, Carmen; Sánchez-Celaya, Marta; Díaz-Barreiros, Miguel Ángel; Vicens, Catalina; Muñoz-Bravo, Carlos; Bellón, Juan Ángel

    2014-01-01

    Background There are no risk algorithms for the onset of anxiety syndromes at 12 months in primary care. We aimed to develop and validate internally a risk algorithm to predict the onset of anxiety syndromes at 12 months. Methods A prospective cohort study with evaluations at baseline, 6 and 12 months. We measured 39 known risk factors and used multilevel logistic regression and inverse probability weighting to build the risk algorithm. Our main outcome was generalized anxiety, panic and other non-specific anxiety syndromes as measured by the Primary Care Evaluation of Mental Disorders, Patient Health Questionnaire (PRIME-MD-PHQ). We recruited 3,564 adult primary care attendees without anxiety syndromes from 174 family physicians and 32 health centers in 6 Spanish provinces. Results The cumulative 12-month incidence of anxiety syndromes was 12.2%. The predictA-Spain risk algorithm included the following predictors of anxiety syndromes: province; sex (female); younger age; taking medicines for anxiety, depression or stress; worse physical and mental quality of life (SF-12); dissatisfaction with paid and unpaid work; perception of financial strain; and the interactions sex*age, sex*perception of financial strain, and age*dissatisfaction with paid work. The C-index was 0.80 (95% confidence interval = 0.78–0.83) and the Hedges' g = 1.17 (95% confidence interval = 1.04–1.29). The Copas shrinkage factor was 0.98 and calibration plots showed an accurate goodness of fit. Conclusions The predictA-Spain risk algorithm is valid to predict anxiety syndromes at 12 months. Although external validation is required, the predictA-Spain is available for use as a predictive tool in the prevention of anxiety syndromes in primary care. PMID:25184313

  1. Diagnostic indicators of restless legs syndrome in primary care consultations: the DESYR study.

    PubMed

    Crochard, Anne; El Hasnaoui, Abdelkader; Pouchain, Denis; Huas, Dominique; Arnulf, Isabelle; Krieger, Jean; Lainey, Eric; Le Jeunne, Philippe; Leger, Damien; Schuck, Stéphane; Texier, Nathalie; Tison, François; Montplaisir, Jacques

    2007-04-30

    The objective of this study is to determine whether spontaneous complaints about sleep or the legs could be used as potential indicators of restless legs syndrome (RLS) in primary care. A total of 351 general practitioners participated in the study. In a first historical patient identification phase, all patients with spontaneous complaints of sleep or leg symptoms over the previous year were identified. A control group without such complaints was identified. In a second prospective data collection phase, those who consulted a participating physician were interviewed to assess consensus diagnostic criteria of RLS. Severity was assessed with the International Restless Legs Syndrome Study Group severity rating scale. Of 1,405,823 patients consulting during the historical phase, a leg complaint was reported in 61,685 and a sleep complaint in 40,568. A total of 1,432 consulted during the prospective phase. A diagnosis of RLS was assigned to 42.6% of patients with leg complaints, 35.5% of those with sleep complaints, 54.9% of those with both complaints, and 12.9% of those with no complaints. Median RLS severity scores were 18.8 to 20.4. A total of 63.7% of patients were prescribed a venotonic, 43.7% a hypnotic, and 41.5% an anxiolytic. Complaints of sleep or leg symptoms are frequently associated with a diagnosis of RLS, and their presence should alert the physician to the possibility of a differential diagnosis of RLS. PMID:17230475

  2. The association between gallstones and metabolic syndrome in urban Han Chinese: a longitudinal cohort study.

    PubMed

    Zhu, Qian; Sun, Xiubin; Ji, Xiaokang; Zhu, Lin; Xu, Jing; Wang, Chunxia; Zhang, Chengqi; Xue, Fuzhong; Liu, Yanxun

    2016-01-01

    The precise association between metabolic syndrome (MetS) and gallstone disease remains unclear in China. This study aimed to clarify the relationship between MetS and gallstone and evaluate whether counts of metabolic abnormalities had influence on gallstone disease. We fitted gender-specific generalized estimating equation (GEE) regression models with data from a large-scale longitudinal study over 6-year follow-up to elucidate the real association. This study included 18291 participants with 3 times repeated measures at least who were free from a prior history of gallstone disease and cholecystectomy. A total of 873 cases of gallstones occurred during 6-year follow-up. The incidence density of gallstone in the group of subjects with MetS was higher than the group without MetS (10.27 vs 5.79). The GEE analyses confirmed and clarified the association between MetS and gallstone disease in males (RR = 1.33, P = 0.0020), while this association was not significant in females (RR = 1.15, P = 0.4962). With numbers of metabolic syndrome components increasing, the risk of gallstone disease showed corresponding increasing in males. In conclusion, the associations of MetS and gallstone are different in males and in females. And the risk of gallstone disease increases with the number of components of MetS for males but not for females.

  3. The association between gallstones and metabolic syndrome in urban Han Chinese: a longitudinal cohort study

    PubMed Central

    Zhu, Qian; Sun, Xiubin; Ji, Xiaokang; Zhu, Lin; Xu, Jing; Wang, Chunxia; Zhang, Chengqi; Xue, Fuzhong; Liu, Yanxun

    2016-01-01

    The precise association between metabolic syndrome (MetS) and gallstone disease remains unclear in China. This study aimed to clarify the relationship between MetS and gallstone and evaluate whether counts of metabolic abnormalities had influence on gallstone disease. We fitted gender-specific generalized estimating equation (GEE) regression models with data from a large-scale longitudinal study over 6-year follow-up to elucidate the real association. This study included 18291 participants with 3 times repeated measures at least who were free from a prior history of gallstone disease and cholecystectomy. A total of 873 cases of gallstones occurred during 6-year follow-up. The incidence density of gallstone in the group of subjects with MetS was higher than the group without MetS (10.27 vs 5.79). The GEE analyses confirmed and clarified the association between MetS and gallstone disease in males (RR = 1.33, P = 0.0020), while this association was not significant in females (RR = 1.15, P = 0.4962). With numbers of metabolic syndrome components increasing, the risk of gallstone disease showed corresponding increasing in males. In conclusion, the associations of MetS and gallstone are different in males and in females. And the risk of gallstone disease increases with the number of components of MetS for males but not for females. PMID:27443986

  4. Selected dietary nutrients and the prevalence of metabolic syndrome in adult males and females in Saudi Arabia: a pilot study.

    PubMed

    Al-Daghri, Nasser M; Khan, Nasiruddin; Alkharfy, Khalid M; Al-Attas, Omar S; Alokail, Majed S; Alfawaz, Hanan A; Alothman, Abdulaziz; Vanhoutte, Paul M

    2013-11-01

    During the last decade, the rapid economic development in Saudi Arabia resulted in an unbalanced dietary intake pattern within the general population. Consequently, metabolic syndrome was also documented to be highly prevalent in the Middle-East region. We aimed to examine the relationship between selected dietary nutrient intakes and the prevalence of metabolic syndrome in the general adult population of Riyadh, Saudi Arabia. In this cross-sectional study, 185 adult Saudis aged 19 to 60 years (87 males and 98 females (mean age 35.6 ± 13.2 and 37.6 ± 11.7 years, respectively)) were included. The criteria for metabolic syndrome were based on the International Diabetes Foundation (IDF) criteria, and the dietary food intake was assessed by two 24-h dietary recall methods. The odd ratios (ORs) of metabolic syndrome risk across quartiles of selected dietary nutrients were significantly lower for carbohydrates and proteins, as well as for vitamins A, C, E and K, calcium, zinc and magnesium (p < 0.05 for all) in the female group with metabolic syndrome than those without. The pattern of daily dietary intake of selected nutrients among the general population of Saudi Arabia raises concern, and this dietary imbalance could increase the risk of metabolic syndrome, particularly in adult Saudi females.

  5. Influence of metabolic syndrome on arterial stiffness and its age-related change in young adults: the Bogalusa Heart Study.

    PubMed

    Li, Shengxu; Chen, Wei; Srinivasan, Sathanur R; Berenson, Gerald S

    2005-06-01

    Increased arterial stiffness is associated with risk variables of metabolic syndrome in middle-aged and older adults. However, information regarding the influence of the metabolic syndrome on arterial stiffness and its rate of change with age in young adults is limited. These aspects were examined in a sample of 806 asymptomatic, healthy young adults aged 24-44 years from a black-white community. Brachial to ankle pulse wave velocity (baPWV) measured by an oscillometric method was used as an index of arterial stiffness. baPWV increased with the increasing number of metabolic syndrome components, defined by National Cholesterol Education Program Adult Treatment Panel III (1256, 1314, and 1422 cm/s for those with 0, 1-2, and 3-5 components, respectively, P for trend <0.001). Furthermore, the rate of change (slope) of baPWV with age increased as the number of metabolic syndrome components increased (4.1, 10.7, and 18.7 cm/s per year for those with 0, 1-2, and 3-5 components, respectively; P for comparison of slopes <0.001). These findings by showing the deleterious effects of metabolic syndrome on arterial stiffness and its age-related increase in young adults underscore the importance of this syndrome in cardiovascular risk assessment even in a younger population. Further longitudinal studies are needed to confirm the current cross-sectional findings.

  6. Patients with shoulder syndromes in general and physiotherapy practice: an observational study

    PubMed Central

    2013-01-01

    Background Shoulder complaints are commonly seen in general practice and physiotherapy practice. The only complaints for which general practitioners (GPs) refer more patients to the physiotherapist are back and neck pain. However, a substantial group have persistent symptoms. The first goal of this study is to document current health care use and the treatment process for patients with shoulder syndromes in both general practice and physiotherapy practice. The second goal is to detect whether there are differences between patients with shoulder syndromes who are treated by their GP, those who are treated by both GP and physiotherapist and those who access physiotherapy directly. Methods Observational study using data from the Netherlands Information Network of General Practice and the National Information Service for Allied Health Care. These registration networks collect healthcare-related information on patient contacts including diagnoses, prescriptions, referrals, treatment and evaluation on an ongoing basis. Results Many patients develop symptoms gradually and 35% of patients with shoulder syndromes waited more than three months before visiting a physiotherapist. In 64% of all patients, treatment goals are fully reached at the end of physiotherapy treatment. In general practice, around one third of the patients return after the referral for physiotherapy. Patients with shoulder syndromes who are referred for physiotherapy have more consultations with their GP and are prescribed less medication than patients without a referral. Often, this referral is made at the first consultation. In physiotherapy practice, referred patients differ from self-referrals. Self-referrals are younger, they more often have recurrent complaints and their complaints are more often related to sports and leisure activities. Conclusions There is a fairly large group of patients with persistent symptoms. Early referral by a GP is not advised under current guidelines. However, in many

  7. Auriculotemporal Syndrome (Frey Syndrome).

    PubMed

    Motz, Kevin M; Kim, Young J

    2016-04-01

    Frey syndrome is a common sequela of parotidectomy, and although it is not frequently manifested clinically, it can cause significant morbidity for those affected. Frey syndrome results from synkinetic autonomic reinnervation by transected postganglionic parasympathetic nerve fiber within the parotid gland to the overlying sweat glands of the skin. Many surgical techniques have been proposed to prevent the development of Frey syndrome. For those who develop clinical symptoms of Frey syndrome, objective testing can be performed with a Minor starch-iodine test. Some of the current methods to prevent and treat symptomatic Frey syndrome are reviewed. PMID:26902982

  8. Study habits among Nigerian secondary school students with brain fag syndrome

    PubMed Central

    Ola, Bolanle A.; Morakinyo, Olufemi

    2010-01-01

    Brain Fag Syndrome (BFS) is a psychiatric disorder associated with study affecting two to four out of every ten African students. One of the consequences of this illness is early foreclosure of education in affected students. Etiological factors such as nervous predisposition, motivation for achievement, and psychostimulant use have been found associated with it. However, the contributions of study habits to the pathogenesis of this study-related illness deserve more attention than has been given. We carried out this cross-sectional study to ascertain the types of study habits associated with BFS among a sample of senior secondary school students in Ile-Ife, Nigeria. Five hundred students from six schools in Ile-Ife were selected using a stratified random sampling technique. The selected students completed the Socio-demographic Data Schedule, the Brain Fag Syndrome Scale, and Bakare's Study Habit Inventory. The prevalence of BFS was 40.2% (201). There were no significant socio-demographic variables identifying BFS students apart from those without BFS. The significant measures of study habits that predicted BFS were homework and assignments, examinations, and written work. Those with BFS had 3.58 times the odds to perform poorly on homework and assignments, 3.27 times the odds to perform poorly on examinations, and 1.01 times the odds to perform poorly on written work compared to those without BFS. We concluded that the results of this study suggest that homework and assignments, examinations, and written work were significant study habit variables associated with BFS. PMID:25478085

  9. Dry Eye Syndrome Risks in Patients With Fibromyalgia: A National Retrospective Cohort Study.

    PubMed

    Chen, Chao-Hsien; Yang, Tse-Yen; Lin, Cheng-Li; Chen, Chih-Sheng; Lin, Wei-Ming; Kuo, Chia-Nan; Lin, Ming-Chia; Kao, Chia-Hung

    2016-01-01

    The coexistence of fibromyalgia (FM) and dry eye syndrome (DES) has been previously reported. However, there are few studies on how patients with FM may develop concomitant DES. Patients with chronic widespread pain, like FM, chronic fatigue syndrome, and irritable bowel syndrome (IBS), was concerned for the rheumatic or psychosomatic disorders which might adequately reflect the long-term risk of DES. We retrieved data on FM patients from the National Health Insurance Research Database of Taiwan covering the years 2000 to 2011. Our FM population consisted of 25,777 patients versus 103,108 patients in the non-FM group: the overall incidence of DES in these populations was 7.37/10,000 and 4.81/10,000, respectively. Male FM patients had a higher incidence of DES, with a 1.39-fold DES risk for males and a 1.45-fold for females after adjustment for confounding factor. Notably, FM patients aged ≤49 years had an elevated 80% risk of DES compared with the non-FM group. Without comorbidities, FM patients had an approximately 1.40-fold risk of DES than those without FM. The additive effects of FM and IBS or FM and sleep disturbance were pointed out that the risk for DES would be elevated when the FM patients with IBS or sleep disturbance. FM patients have a higher incidence of DES than that of non-FM patients. They carry long-term DES risks from a relatively young age, particularly those with psychiatric problems. Risk stratification for a timely psychiatric medication intervention and risk modifications are not intended.

  10. Childhood stunting and the metabolic syndrome components in young adults from a Brazilian birth cohort study

    PubMed Central

    Grillo, L P; Gigante, D P; Horta, B L; de Barros, F C F

    2016-01-01

    Background/Objectives: The aim of this study was to investigate the association between stunting in the second year of life and metabolic syndrome components in early adulthood among subjects who have been prospectively followed-up since birth, in a city in Southern Brazil. Subjects/Methods: In 1984, we attempted to follow-up the entire cohort; the subjects were examined and their mothers interviewed. Stunting was defined by a length-for-age Z-score 2 s.d. or more below the mean, in accordance with the World Health Organization reference. Between 2004 and 2005, we again tried to follow the entire cohort; during this period the subjects were evaluated for the following metabolic syndrome components: high-density lipoprotein (HDL) cholesterol, triglycerides, random blood glucose, waist circumference and systolic and diastolic blood pressure. Family income at the time of the baby's birth, asset index, mother's education, mother's smoking during pregnancy and duration of breastfeeding were considered possible confounders. Linear regression was used in the unadjusted and adjusted analyses. Results: Among men, stunting was inversely associated with triglycerides (β=−11.90, confidence interval (CI)=−22.33 to −1.48) and waist circumference (β=−4.29, CI=−5.62 to −2.97), whereas for women stunting was negatively related to HDL-cholesterol (β=−4.50, CI=−6.47 to −2.52), triglycerides (β=−9.61, CI=−17.66 to −1.56) and waist circumference (β=−1.14, CI=−4.22 to −1.02). However, after controlling for confounding variables, these associations vanished. Conclusions: The findings suggest that stunting in childhood is not associated with metabolic syndrome components in young adults. PMID:26733042

  11. Congenital abnormalities and acute leukemia among children with Down syndrome: a Children's Oncology Group study.

    PubMed

    Linabery, Amy M; Blair, Cindy K; Gamis, Alan S; Olshan, Andrew F; Heerema, Nyla A; Ross, Julie A

    2008-10-01

    Children with Down syndrome, due to their heightened risk of leukemia and increased prevalence of congenital abnormalities, comprise a valuable population in which to study etiology. A Children's Oncology Group study investigated the causes of childhood leukemia in children with Down syndrome diagnosed at ages 0 to 19 years during the period 1997-2002. Telephone interviews were completed with mothers of 158 cases [n=97 acute lymphoblastic leukemia (ALL) and n=61 acute myeloid leukemia (AML)] and 173 controls. Odds ratios (OR) and 95% confidence intervals (95% CI) were computed via unconditional logistic regression to evaluate the association between congenital abnormalities and acute leukemia overall, and ALL and AML analyzed separately. The results do not provide evidence for an association among the index children (OR(Combined), 0.74; 95% CI, 0.45-1.23; OR(ALL), 0.67; 95% CI, 0.38-1.20; OR(AML),1.03; 95% CI, 0.49-2.16) or their siblings (OR(Combined), 1.23; 95% CI, 0.71-2.13; OR(ALL), 1.12; 95% CI, 0.60-2.09; OR(AML), 1.60; 95% CI, 0.66-3.86), suggesting congenital malformations do not confer additional risk of leukemia beyond the risk attributable to trisomy 21 in this population.

  12. Bimanual non-congruent actions in motor neglect syndrome: a combined behavioral/fMRI study

    PubMed Central

    Garbarini, F.; Turella, L.; Rabuffetti, M.; Cantagallo, A.; Piedimonte, A.; Fainardi, E.; Berti, A.; Fadiga, L.

    2015-01-01

    In Motor Neglect (MN) syndrome, a specific impairment in non-congruent bimanual movements has been described. In the present case-control study, we investigated the neuro-functional correlates of this behavioral deficit. Two right-brain-damaged (RBD) patients, one with (MN+) and one without (MN−) MN, were evaluated by means of functional Magnetic Resonance Imaging (fMRI) in a bimanual Circles-Lines (CL) paradigm. Patients were requested to perform right-hand movements (lines-drawing) and, simultaneously, congruent (lines-drawing) or non-congruent (circles-drawing) left-hand movements. In the behavioral task, MN− patient showed a bimanual-coupling-effect, while MN+ patient did not. The fMRI study showed that in MN−, a fronto-parietal network, mainly involving the pre-supplementary motor area (pre-SMA) and the posterior parietal cortex (PPC), was significantly more active in non-congruent than in congruent conditions, as previously shown in healthy subjects. On the contrary, MN+ patient showed an opposite pattern of activation both in pre-SMA and in PPC. Within this fronto-parietal network, the pre-SMA is supposed to exert an inhibitory influence on the default coupling of homologous muscles, thus allowing the execution of non-congruent movements. In MN syndrome, the described abnormal pre-SMA activity supports the hypothesis that a failure to inhibit ipsilesional motor programs might determine a specific impairment of non-congruent movements. PMID:26500520

  13. Perfluorocarbons and Gilbert syndrome (phenotype) in the C8 Health Study Population

    SciTech Connect

    Fan, Hongmin; Ducatman, Alan; Zhang, Jianjun

    2014-11-15

    Background: Gilbert syndrome (GS) is an inherited defect of bilirubin conjugation, most commonly caused by a gene mutation for the enzyme UGT1A. GS is known to affect the metabolism and excretion of drugs and xenobiotics. Perfluorocarbon compounds (PFCs) are bio-persistent environmental contaminants that affect metabolic regulation. In this study, we examined the associations of GS phenotype and serum PFCs in the C8 Health Study Population. Materials and methods: Using 2005–2006 data from a large PFC-exposure population survey, we compared serum PFCs concentrations between GS and non GS clinical phenotypes, in a cross sectional design, adjusting for standard risk factors, including age, BMI, smoking status, socioeconomic status and gender. Results: Among 10 PFC compounds considered, only perfluorohexanoic acid (PFHxA) was seen at a significantly higher concentration in GS men and women. Conclusion: PFHxA exposure may be associated with GS. Our findings do not support increased exposure in GS for other PFCs. - Highlights: • Most serum PFCs are not associated with clinically evident Gilbert syndrome. • However, serum perfluorohexanoic acid is positively associated. • The investigation addresses the clinical presentation, not the genetic mutation.

  14. Gender differences in the association between metabolic syndrome and periodontal disease: the Hisayama Study

    PubMed Central

    Furuta, Michiko; Shimazaki, Yoshihiro; Takeshita, Toru; Shibata, Yukie; Akifusa, Sumio; Eshima, Nobuoki; Kiyohara, Yutaka; Ninomiya, Toshiharu; Hirakawa, Yoichiro; Mukai, Naoko; Nagata, Masaharu; Yamashita, Yoshihisa

    2013-01-01

    Aims: Periodontal disease and metabolic syndrome (MS) are more prevalent in males than in females. However, whether there is a gender difference in the association between these health conditions has not yet been investigated. This study examined the gender difference in this association, considering the definition of periodontal disease. Materials and Methods: We recruited 1040 males and 1330 females, aged ≥40 years, with at least ten teeth from subjects of the 2007 Hisayama health examination. We performed a logistic regression analysis with various definitions of periodontal disease the dependent variable and MS as the independent variable. Following the analysis, the data were reanalysed with the structural equations model. Results: The logistic regression analysis suggested a stronger association between periodontal disease and MS in females than that in males when periodontal disease was more severely defined. When we constructed the structural equations model in each gender, the model showed a good fit to the data of females, suggesting the association between periodontal disease and MS in females, but not in males. Conclusions: Gender differences seem to exist in the association between periodontal disease and MS; MS might show a stronger association with periodontal disease in females than in males. Furuta M, Shimazaki Y, Takeshita T, Shibata Y, Akifusa S, Eshima N, Kiyohara Y, Ninomiya T, Hirakawa Y, Mukai N, Nagata M, Yamashita Y. Gender differences in the association between metabolic syndrome and periodontal disease: the Hisayama Study. J Clin Periodontol 2013; 40: 743–752. doi: 10.1111/jcpe.12119. PMID:23829196

  15. [Genetic predisposition and Pediatric Acute Respiratory Distress Syndrome: New tools for genetic study].

    PubMed

    Erranz, M Benjamín; Wilhelm, B Jan; Riquelme, V Raquel; Cruces, R Pablo

    2015-01-01

    Acute respiratory distress syndrome (ARDS) is the most severe form of respiratory failure. Theoretically, any acute lung condition can lead to ARDS, but only a small percentage of individuals actually develop the disease. On this basis, genetic factors have been implicated in the risk of developing ARDS. Based on the pathophysiology of this disease, many candidate genes have been evaluated as potential modifiers in patient, as well as in animal models, of ARDS. Recent experimental data and clinical studies suggest that variations of genes involved in key processes of tissue, cellular and molecular lung damage may influence susceptibility and prognosis of ARDS. However, the pathogenesis of pediatric ARDS is complex, and therefore, it can be expected that many genes might contribute. Genetic variations such as single nucleotide polymorphisms and copy-number variations are likely associated with susceptibility to ARDS in children with primary lung injury. Genome-wide association (GWA) studies can objectively examine these variations, and help identify important new genes and pathogenetic pathways for future analysis. This approach might also have diagnostic and therapeutic implications, such as predicting patient risk or developing a personalized therapeutic approach to this serious syndrome.

  16. [Pathologic aspects of mitral valve prolapse syndrome].

    PubMed

    Kawai, S; Okada, R

    1986-01-01

    To comprehend clinical pictures of mitral valve prolapse syndrome (MVP), specific pathoanatomical knowledge is required. There is no definite structure of the anterior mitral valve ring. The mitral valve ring is not flat; the anterior segment of the ring tilts up superiorly. The number of scallops of the posterior leaflet depends on the definition of the incisura. The term "rough zone chorda" (Lam et al., 1970) is a misnomer. From the pathological point of view, more than two subgroups of MVP are present. In isolated MVP, pathological lesions are restricted to the local ballooned segment. However, in MVP with connective tissue disorders (for example, Marfan syndrome, etc.), the lesions are principally diffuse. Mitral valve changes in hypertrophic cardiomyopathy with obstruction are caused by torsion and the relatively elongated anterior leaflet due to narrowing of the mitral orifice, septal hypertrophy and displacement of the papillary muscles. MVP in atrial septal defect is caused by the turbulence of a large shunt flow or by the torsion of the mitral ring due to right ventricular volume overload. Further investigation of surgical and necropsied cases will be required to clearly the subgroups of MVP. PMID:3681006

  17. Tourette syndrome

    MedlinePlus

    Gilles de la Tourette syndrome; Tic disorders - Tourette syndrome ... Tourette syndrome is named for Georges Gilles de la Tourette, who first described this disorder in 1885. The disorder is likely passed down through families. The syndrome may be linked to ...

  18. Proteomic study of acute respiratory distress syndrome: current knowledge and implications for drug development.

    PubMed

    Levitt, Joseph E; Rogers, Angela J

    2016-05-01

    The acute respiratory distress syndrome (ARDS) is a common cause of acute respiratory failure, and is associated with substantial mortality and morbidity. Dozens of clinical trials targeting ARDS have failed, with no drug specifically targeting lung injury in widespread clinical use. Thus, the need for drug development in ARDS is great. Targeted proteomic studies in ARDS have identified many key pathways in the disease, including inflammation, epithelial injury, endothelial injury or activation, and disordered coagulation and repair. Recent studies reveal the potential for proteomic changes to identify novel subphenotypes of ARDS patients who may be most likely to respond to therapy and could thus be targeted for enrollment in clinical trials. Nontargeted studies of proteomics in ARDS are just beginning and have the potential to identify novel drug targets and key pathways in the disease. Proteomics will play an important role in phenotyping of patients and developing novel therapies for ARDS in the future. PMID:27031735

  19. Is metabolic syndrome a discrete entity in the general population? Evidence from the Caerphilly and Speedwell population studies

    PubMed Central

    Yarnell, J; Patterson, C; Bainton, D; Sweetnam, P

    1998-01-01

    Objective—To examine the clinical and epidemiological utility of the concepts of metabolic syndrome and insulin resistance syndrome in two prospective cohort studies of white men.
Methods—Men aged 45-63 years were screened for evidence of ischaemic heart disease (IHD) between 1979 and 1982 and followed up at regular intervals thereafter. Non-fatal coronary events were validated from hospital records and fatal coronary events from death certificates.
Results—Analysis of serum insulin concentrations in non-diabetic individuals measured at entry to the study showed no independent contribution to the prediction of subsequent IHD at 10 year follow up. Blood glucose concentrations, however, showed a small independent contribution in the combined cohort in the upper fifth of the distribution. Three different models of metabolic syndrome among non-diabetic individuals were defined based on tertiles, medians, and clusters. The predictive value of each model was assessed using logistic regression before and after adjustment for conventional and metabolic risk factors. After adjustment the odds were non-significant and close to unity.
Conclusions—This study did not detect any complex relation among the five variables defining metabolic syndrome; the excess risk seems to be no greater than can be explained by individual effects of the defining variables in a multiple logistic model.

 Keywords: metabolic syndrome;  insulin resistance;  screening;  ischaemic heart disease;  epidemiology PMID:9602657

  20. Cytogenetic studies of Brazilian pediatric myelodysplastic syndrome cases: challenges and difficulties in a large and emerging country

    PubMed Central

    Velloso, E.D.R.P.; Chauffaille, M.L.; Peliçario, L.M.; Tanizawa, R.S.S.; Toledo, S.R.C.; Gaiolla, R.D.; Lopes, L.F.

    2013-01-01

    Myelodysplastic syndromes (MDS) and juvenile myelomonocytic leukemia (JMML) are rare hematopoietic stem cell diseases affecting children. Cytogenetics plays an important role in the diagnosis of these diseases. We report here the experience of the Cytogenetic Subcommittee of the Brazilian Cooperative Group on Pediatric Myelodysplastic Syndromes (BCG-MDS-PED). We analyzed 168 cytogenetic studies performed in 23 different cytogenetic centers; 84 of these studies were performed in patients with confirmed MDS (primary MDS, secondary MDS, JMML, and acute myeloid leukemia/MDS+Down syndrome). Clonal abnormalities were found in 36.9% of the MDS cases and cytogenetic studies were important for the detection of constitutional diseases and for differential diagnosis with other myeloid neoplasms. These data show the importance of the Cooperative Group for continuing education in order to avoid a late or wrong diagnosis. PMID:23314345

  1. Clinical significance of different antiphospholipid antibodies in the WAPS (warfarin in the antiphospholipid syndrome) study.

    PubMed

    Galli, Monica; Borrelli, Giovanna; Jacobsen, Eva Marie; Marfisi, Rosa Maria; Finazzi, Guido; Marchioli, Roberto; Wisloff, Finn; Marziali, Stefana; Morboeuf, Olivier; Barbui, Tiziano

    2007-08-15

    To assess the clinical significance of lupus anticoagulants (LAs) and antiphospholipid antibodies (aPLs) toward thrombosis and abortions, we measured them in 112 patients whose samples were available at enrollment in the warfarin in the antiphospholipid syndrome (WAPS) study. Enzyme-linked immunosorbent assay (ELISA) and coagulation test values in the highest and lowest tertiles were compared. When considered separately, IgG antibodies to beta2-glycoprotein I (abeta2GPI) and prothrombin (aPT) were associated with anamnestic arterial and venous thrombosis, respectively, and those to annexin AV (aAnAV) with abortions. IgM antibodies to protein S and the lupus ratio of the dilute prothrombin time were associated with prospective thrombosis. No other association for IgM antibodies was seen. LA-positive patients who carried abeta2GPI antibodies were at risk of anamnestic arterial and total thrombosis and aPT antibodies to that of anamnestic venous and total thrombosis. LA-positive patients who carried IgG abeta2GPI and aAnAV antibodies were at risk for both anamnestic abortion and prospective thrombosis. Overall, these data support the inclusion of abeta2GPI antibodies in and suggest the removal of anticardiolipin antibodies from the laboratory criteria of the antiphospholipid syndrome. They also suggest that the measurement of aPT and aAnAV antibodies is useful in some selected situations and that there is little role for IgM antibody detection. PMID:17440049

  2. Association of restless legs syndrome with nocturnal eating: a case-control study.

    PubMed

    Provini, Federica; Antelmi, Elena; Vignatelli, Luca; Zaniboni, Anna; Naldi, Giulia; Calandra-Buonaura, Giovanna; Vetrugno, Roberto; Plazzi, Giuseppe; Montagna, Pasquale

    2009-04-30

    We investigated the prevalence of nocturnal eating (sleep-related eating disorder-SRED or night-eating syndrome-NES) in patients with restless legs syndrome (RLS). One hundred RLS patients living in Emilia-Romagna (Northern Italy) and 100 matched controls randomly selected from the general population received two telephone interviews, and were investigated for socio-demographic characteristics, general health status, and presence of nocturnal eating. Additionally, subjects underwent interviews for psychopathological traits [by means of the Eating Disorder Inventory-2 (EDI-2), the Maudsley Obsessive-Compulsive Inventory (MOCI), the Beck Depression Inventory (BDI)], excessive daytime sleepiness (EDS), and subjective sleep quality. Compared with controls, RLS patients had more frequently pathological MOCI scores (24% versus 10%, P = 0.03), used significantly more drugs for concomitant diseases and had more nocturnal sleep impairment and EDS. SRED was more prevalent in RLS patients than controls (SRED: 33% versus 1%, P < 0.001). Medication use and pathological MOCI scores were more prevalent in RLS patients with SRED than among RLS patients without SRED. Use of dopaminergic or hypnotic drugs for RLS was not correlated with the presence of SRED. We demonstrate an association between RLS and SRED. Prospective studies are needed to establish the mechanisms underlying such association and whether it is causal.

  3. [Retrospective bacteriological study of mycobacterial infections in patients with acquired immunodeficiency syndrome].

    PubMed

    Pangon, B; Michon, C; Bizet, C; Perronne, C; Katlama, C; Marche, C; Lévy-Frébault, V; Buré, A

    1988-05-21

    The main species of mycobacteria isolated in 62 of the 316 acquired immunodeficiency syndrome patients admitted to the Claude Bernard Hospital, Paris, between January, 1983 and October, 1986 were studied retrospectively according to their site of isolation and their pathogenic role. Mycobacterium tuberculosis was isolated in 19 cases (from pulmonary specimens in 17 cases); this species was present in 59 percent of our African patients as against 20 percent of our European patients. M. avium intracellulare was isolated in 33 cases (17 from blood, 12 from the lung and 11 from the gastrointestinal tract) and was found in 55 p. 100 of our European patients. Other species that were isolated less frequently were M. xenopi (5 cases), M. kansasii (3 cases), M. aurum, M. chelonae, M. fortuitum, M. gordonae, M. simiae and M. terrae (1 case each). Post mortem specimens obtained from 110 acquired immunodeficiency syndrome patients were cultivated during the same period. In 20 patients, at least one specimen was positive for a mycobacterium: M. tuberculosis in 2 cases, M. avium intracellulare in 18 cases. Twenty-nine of the 33 patients in whom M. avium intracellulare was isolated were considered a posteriori as being infected by this organism. The therapeutic approach varies according to the species involved. No treatment seems to be truly effective against M. avium intracellulare. Pending the results of cultures, no direct bacteriological examination can provide information on the mycobacterial species concerned; however, a conventional antituberculosis treatment may be instituted, particularly in patients from Africa or Haiti.

  4. Neural correlates of auditory perception in Williams syndrome: an fMRI study.

    PubMed

    Levitin, Daniel J; Menon, Vinod; Schmitt, J Eric; Eliez, Stephan; White, Christopher D; Glover, Gary H; Kadis, Jay; Korenberg, Julie R; Bellugi, Ursula; Reiss, Allan L

    2003-01-01

    Williams syndrome (WS), a neurogenetic developmental disorder, is characterized by a rare fractionation of higher cortical functioning: selective preservation of certain complex faculties (language, music, face processing, and sociability) in contrast to marked and severe deficits in nearly every other cognitive domain (reasoning, spatial ability, motor coordination, arithmetic, problem solving). WS people are also known to suffer from hyperacusis and to experience heightened emotional reactions to music and certain classes of noise. We used functional magnetic resonance imaging to examine the neural basis of auditory processing of music and noise in WS patients and age-matched controls and found strikingly different patterns of neural organization between the groups. Those regions supporting music and noise processing in normal subjects were found not to be consistently activated in the WS participants (e.g., superior temporal and middle temporal gyri). Instead, the WS participants showed significantly reduced activation in the temporal lobes coupled with significantly greater activation in the right amygdala. In addition, WS participants (but not controls) showed a widely distributed network of activation in cortical and subcortical structures, including the brain stem, during music processing. Taken together with previous ERP and cytoarchitectonic studies, this first published report of WS using fMRI provides additional evidence of a different neurofunctional organization in WS people than normal people, which may help to explain their atypical reactions to sound. These results constitute an important first step in drawing out the links between genes, brain, cognition, and behavior in Williams syndrome. PMID:12507445

  5. Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)

    SciTech Connect

    Greenberg, F.; Lewis, R.A.; Potocki, L.

    1996-03-29

    Smith-Magenis syndrome (SMS) is a multiple congenital anomaly, mental retardation (MCA/MR) syndrome associated with deletion of chromosome 17 band p11.2. As part of a multi-disciplinary clinical, cytogenetic, and molecular approach to SMS, detailed clinical studies including radiographic neurologic, developmental, ophthalmologic, otolaryngologic, and audiologic evaluations were performed on 27 SMS patients. Significant findings include otolaryngologic abnormalities in 94%, eye abnormalities in 85%, sleep abnormalities (especially reduced REM sleep) in 75%, hearing impairment in 68% (approximately 65% conductive and 35% sensorineural), scoliosis in 65% brain abnormalities (predominantly ventriculomegaly) in 52%, cardiac abnormalities in at least 37%, renal anomalies (especially duplication of the collecting system) in 35%, low thyroxine levels in 29%, low immunoglobulin levels in 23%, and forearm abnormalities in 16%. The measured IQ ranged between 20-78, most patients falling in the moderate range of mental retardation at 40-54, although several patients scored in the mild or borderline range. The frequency of these many abnormalities in SMS suggests that patients should be evaluated thoroughly for associated complications both at the time of diagnosis and at least annually thereafter. 42 refs., 2 figs., 3 tabs.

  6. Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndrome.

    PubMed

    Rodríguez-Criado, Germán; Magano, Luis; Segovia, Mabel; Gurrieri, Fiorella; Neri, Giovanni; González-Meneses, Antonio; Gómez de Terreros, Ignacio; Valdéz, Rita; Gracia, Ricardo; Lapunzina, Pablo

    2005-10-15

    The Simpson-Golabi-Behmel syndrome (SGBS) (OMIM 312870) is an overgrowth/multiple congenital anomalies syndrome caused by a semi-dominant X-linked gene encoding glypican 3 (GPC3). It shows great clinical variability, ranging from mild forms in carrier females to lethal forms with failure to thrive in males. The most consistent findings in SGBS are pre- and postnatal macrosomia, characteristic facial anomalies and abnormalities affecting the internal organs, skeleton, and on some occasions, mental retardation of variable degree. SGBS is also associated with an increased risk of developing embryonal tumors, mostly Wilms and liver tumors. We describe two molecularly-confirmed families with SGBS. All patients had typical manifestations of SGBS including some female relatives who had minor manifestations of the disorder. Some patients had novel findings such as a deep V-shaped sella turcica and six lumbar vertebrae. Molecular studies in affected patients showed a deletion of exon 6 in family 1 and an intronic mutation in family 2.

  7. Cognitive functioning in Williams syndrome: a study in Portuguese and Spanish patients.

    PubMed

    Sampaio, Adriana; Férnandez, Montse; Henriques, Margarida; Carracedo, Angel; Sousa, Nuno; Gonçalves, Oscar F

    2009-07-01

    Williams Syndrome (WS) is a genetic neurodevelopmental disorder caused by a submicroscopic deletion on chromosome 7 q11.23. This is a systemic disorder in which cardiac problems and mental retardation are the key phenotypic symptoms. Although displaying a general cognitive impairment, they are most often described as exhibiting a peak and valley profile, with relative sparing of language and face processing abilities and severe impairment of visual-spatial cognition. In this study, we conducted a detailed cognitive assessment using Wechsler Intelligence Scales on a WS and a normal development control group. To explore the hypothesis of a dissociative cognitive architecture in WS, performance on subtests, factorial indexes and composite measures of Verbal, Performance and Full Scale Intelligence Quotient were analysed. Individuals with WS were found to score in Full Scale Intelligence Quotient (FSIQ) within mild to moderate mental retardation interval, and had significantly lower scores in all measures when they were compared with the normal development group. However, a specific intragroup cognitive profile was found for Williams Syndrome (confirming Mervis' definition of the WS cognitive profile) along with a specific developmental pathway (absence of an age-associated cognitive decline).

  8. Metformin, arterial function, intima-media thickness and nitroxidation in metabolic syndrome: the mefisto study.

    PubMed

    Meaney, Eduardo; Vela, Agustín; Samaniego, Virginia; Meaney, Alejandra; Asbún, Juan; Zempoalteca, Juan-Carlos; Elisa, Zárate N; Emma, Mendoza N; Guzman, Martin; Hicks, Juan; Ceballos, Guillermo

    2008-08-01

    1. Metabolic syndrome (MS) is one of the greatest public health problems in Mexico, where more than 75% of adults in urban populations are overweight or obese. Metabolic syndrome has several comorbidities, which result in a high cardiometabolic risk. 2. Some of the vasopathogenic phenomena in MS are caused by nitroxidant stress, secondary to cardiometabolic dysfunction. 3. The action of metformin to diminish or control MS remains a matter of debate. 4. In the present study, 60 patients with at least three diagnostic criteria for MS were divided into two groups. Both groups received similar dietary counselling, but one group was given 850 mg metformin daily. 5. The variables assessed were body mass index, waist circumference, systolic and diastolic blood pressures (SBP and DBP, respectively), total cholesterol (TC), high- and low-density lipoprotein-cholesterol, triglycerides (TG), fasting glucose, nitroxidant metabolites (free carbonyls, malondialdehyde, dityrosines and advanced oxidative protein products (AOPP)), nitric oxide (NO), carotid vascular stiffness, carotid intima-media thickness (IMT) and C-reactive protein (CRP). 6. After 1 year follow up, both groups reported weight loss, as well as decreases in waist circumference, SBP and DBP. 7. Patients on metformin exhibited reductions in TC and IMT and there were marked changes in nitroxidation: levels of carbonyls, dityrosines and AOPP were reduced, whereas those of NO were increased, indicating better endothelial function. In addition, in patients given metformin, CRP levels decreased. 8. In conclusion, metformin has a considerable beneficial effect on nitroxidation, endothelial function and IMT in patients with MS.

  9. Structural brain abnormalities in postural tachycardia syndrome: A VBM-DARTEL study

    PubMed Central

    Umeda, Satoshi; Harrison, Neil A.; Gray, Marcus A.; Mathias, Christopher J.; Critchley, Hugo D.

    2015-01-01

    Postural tachycardia syndrome (PoTS), a form of dysautonomia, is characterized by orthostatic intolerance, and is frequently accompanied by a range of symptoms including palpitations, lightheadedness, clouding of thought, blurred vision, fatigue, anxiety, and depression. Although the estimated prevalence of PoTS is approximately 5–10 times as common as the better-known condition orthostatic hypotension, the neural substrates of the syndrome are poorly characterized. In the present study, we used magnetic resonance imaging (MRI) with voxel-based morphometry (VBM) applying the diffeomorphic anatomical registration through exponentiated lie algebra (DARTEL) procedure to examine variation in regional brain structure associated with PoTS. We recruited 11 patients with established PoTS and 23 age-matched normal controls. Group comparison of gray matter volume revealed diminished gray matter volume within the left anterior insula, right middle frontal gyrus and right cingulate gyrus in the PoTS group. We also observed lower white matter volume beneath the precentral gyrus and paracentral lobule, right pre- and post-central gyrus, paracentral lobule and superior frontal gyrus in PoTS patients. Subsequent ROI analyses revealed significant negative correlations between left insula volume and trait anxiety and depression scores. Together, these findings of structural differences, particularly within insular and cingulate components of the salience network, suggest a link between dysregulated physiological reactions arising from compromised central autonomic control (and interoceptive representation) and increased vulnerability to psychiatric symptoms in PoTS patients. PMID:25852449

  10. The Seoul Metropolitan Lifestyle Intervention Program and Metabolic Syndrome Risk: A Retrospective Database Study

    PubMed Central

    Choo, Jina; Yoon, Seok-Jun; Ryu, Hosihn; Park, Mi-Suk; Lee, Hyang Sook; Park, Yoo Mi; Lim, Do-Sun

    2016-01-01

    Since 2011, the Seoul Metabolic Syndrome Management (SMESY) program has been employed as a community-wide, lifestyle modification intervention in Seoul, Korea. We aimed to determine if the SMESY intervention would be significantly associated with improvements in metabolic syndrome (MetS) risk factors. This retrospective database study included data from 25,449 participants aged 30–64 years between 1 January 2013 and 30 June 2013. In the SMESY program, 3 risk-stratified groups by the number of MetS factors were followed for 12 months with different intensity and timeframe of intervention. Among the high-(n = 7116) and moderate-risk groups (n = 14,762), all MetS factors (except triglycerides among the moderate-risk group) as well as MetS z-scores significantly improved over 12 months (all p < 0.05). Among the low-risk group (n = 3571), all factors aggravated significantly over 12 months (all p < 0.05). We observed temporal associations between the implementation of the SMESY program and improvements in MetS risk factors. However, such improvements differed by risk-stratified group, being most robust for the high-risk group, modest for the moderate-risk group, and aggravated for the low-risk group. Thus, more intensive interventions targeting different risk-stratified groups are needed, given a better understanding of the increase in risk factors observed in the low-risk group. PMID:27384576

  11. Involuntary painful muscle contractions in Satoyoshi syndrome: a surface electromyographic study.

    PubMed

    Drost, Gea; Verrips, Aad; van Engelen, Baziel G M; Stegeman, Dick F; Zwarts, Machiel J

    2006-11-01

    We report a child with Satoyoshi syndrome manifested by involuntary painful muscle contractions and alopecia. Although an autoimmune origin of Satoyoshi syndrome seems likely, its exact etiology remains as yet unknown, as is the origin of the involuntary contractions. To gain a better understanding of the electrophysiological characteristics of the involuntary contractions, we performed a surface electromyographic (EMG) study. We investigated muscle contractions in the legs using two noninvasive techniques: high-density surface EMG (HD-sEMG) recordings on one muscle, and polymyographic surface EMG (sEMG) recordings on various muscles. During the involuntary contractions, HD-sEMG showed a fourfold increase in amplitude compared to maximal voluntary contractions. These high potentials were widely distributed across the whole muscle and showed a pronounced oscillatory behavior with a frequency around 45 Hz. Polymyographic sEMG revealed that the involuntary contractions often occur simultaneously in various muscles or showed a switch of activity from one muscle to another. These findings point to hyperactivity or a disinhibition at the alpha motor neuron level, originating probably at that level, although a central origin cannot be excluded. (c) 2006 Movement Disorder Society. PMID:16972238

  12. Dilation of the ascending aorta in Turner syndrome - a prospective cardiovascular magnetic resonance study

    PubMed Central

    2011-01-01

    Background The risk of aortic dissection is 100-fold increased in Turner syndrome (TS). Unfortunately, risk stratification is inadequate due to a lack of insight into the natural course of the syndrome-associated aortopathy. Therefore, this study aimed to prospectively assess aortic dimensions in TS. Methods Eighty adult TS patients were examined twice with a mean follow-up of 2.4 ± 0.4 years, and 67 healthy age and gender-matched controls were examined once. Aortic dimensions were measured at nine predefined positions using 3D, non-contrast and free-breathing cardiovascular magnetic resonance. Transthoracic echocardiography and 24-hour ambulatory blood pressure were also performed. Results At baseline, aortic diameters (body surface area indexed) were larger at all positions in TS. Aortic dilation was more prevalent at all positions excluding the distal transverse aortic arch. Aortic diameter increased in the aortic sinus, at the sinotubular junction and in the mid-ascending aorta with growth rates of 0.1 - 0.4 mm/year. Aortic diameters at all other positions were unchanged. The bicuspid aortic valve conferred higher aortic sinus growth rates (p < 0.05). No other predictors of aortic growth were identified. Conclusion A general aortopathy is present in TS with enlargement of the ascending aorta, which is accelerated in the presence of a bicuspid aortic valve. PMID:21527014

  13. Seizures as an Atypical Feature of Beal’s Syndrome

    PubMed Central

    Jaman, Nazreen B. K.; Al-Sayegh, Abeer

    2016-01-01

    Congenital contractural arachnodactyly, commonly known as Beal’s syndrome, is an extremely rare genetic disorder caused by mutations in the fibrillin-2 (FBN2) gene located on chromosome 5q23. It is an autosomal dominant inherited connective tissue disorder characterised by a Marfan-like body habitus, contractures, abnormally shaped ears and kyphoscoliosis. We report a seven-year-old Omani male who presented to the Sultan Qaboos University Hospital, Muscat, Oman, in 2014 with seizures. He was noted to have certain distinctive facial features and musculoskeletal manifestations; he was subsequently diagnosed with Beal’s syndrome. Sequencing of the FBN2 gene revealed that the patient had a novel mutation which was also present in his mother; however, she had only a few facial features indicative of Beal’s syndrome and no systemic involvement apart from a history of childhood seizures. To the best of the authors’ knowledge, this is the first report of Beal’s syndrome with seizure symptoms as a potential feature. PMID:27606123

  14. Seizures as an Atypical Feature of Beal’s Syndrome

    PubMed Central

    Jaman, Nazreen B. K.; Al-Sayegh, Abeer

    2016-01-01

    Congenital contractural arachnodactyly, commonly known as Beal’s syndrome, is an extremely rare genetic disorder caused by mutations in the fibrillin-2 (FBN2) gene located on chromosome 5q23. It is an autosomal dominant inherited connective tissue disorder characterised by a Marfan-like body habitus, contractures, abnormally shaped ears and kyphoscoliosis. We report a seven-year-old Omani male who presented to the Sultan Qaboos University Hospital, Muscat, Oman, in 2014 with seizures. He was noted to have certain distinctive facial features and musculoskeletal manifestations; he was subsequently diagnosed with Beal’s syndrome. Sequencing of the FBN2 gene revealed that the patient had a novel mutation which was also present in his mother; however, she had only a few facial features indicative of Beal’s syndrome and no systemic involvement apart from a history of childhood seizures. To the best of the authors’ knowledge, this is the first report of Beal’s syndrome with seizure symptoms as a potential feature.

  15. Prevalence of rheumatic regional pain syndromes in Latin-American indigenous groups: a census study based on COPCORD methodology and syndrome-specific diagnostic criteria.

    PubMed

    Alvarez-Nemegyei, José; Peláez-Ballestas, Ingris; Goñi, Mario; Julián-Santiago, Flor; García-García, Conrado; Quintana, Rosana; Silvestre, Adriana M R; García-Olivera, Imelda; Mathern, Nora A; Loyola-Sanchez, Adalberto; Conti, Silvana; Sanabria, Alvaro J; Pons-Estel, Bernardo A

    2016-07-01

    This study assessed the overall and specific prevalence of the main rheumatic regional pain syndromes (RRPS) in four Latin-American indigenous groups. A Community Oriented Program for Control of Rheumatic Diseases (COPCORD) methodology-based census study was performed in 4240 adults (participation rate: 78.88 %) in four indigenous groups: Chontal (Oaxaca, Mexico, n = 124), Mixteco (Oaxaca, Mexico; n = 937), Maya-Yucateco (Yucatán, Mexico; n = 1523), and Qom (Rosario, Argentina; n = 1656). Subjects with musculoskeletal pain were identified using a cross-cultural, validated COPCORD questionnaire administered by bilingual personnel, and reviewed by general practitioners or rheumatologists using standardized case definitions for the 12 most frequent RRPS. The overall prevalence of RRPS was confirmed in 239 cases (5.64 %, 95 % CI: 4.98-6.37). The prevalence in each group was Chontal n = 19 (15.32 %, 95 % CI: 10.03-22.69); Maya-Yucateco n = 165 (10.83 %, 95 % CI: 9.37-12.49); Qom n = 48 (2.90 %, 95 % CI: 2.19-3.82); and Mixteco n = 7 (0.75 %, 95 % CI: 0.36-1.53). In the whole sample, the syndrome-specific prevalence was rotator cuff tendinopathy: 1.98 % (95 % CI: 1.60-2.45); lateral epicondylalgia: 0.83 % (95 % CI: 0.59-1.15); medial epicondylalgia: 0.73 % (95 % CI: 0.52-1.04); biceps tendinopathy: 0.71 % (95 % CI: 0.50-1.01); anserine syndrome: 0.64 % (95 % CI: 0.44-0.92); inferior heel pain: 0.61 % (95 % CI: 0.42-0.90); trochanteric syndrome: 0.49 % (95 % CI: 0.25-0.64); de Quervain's tendinopathy: 0.45 % (95 % CI: 0.29-0.70); trigger finger: 0.42 % (95 % CI: 0.27-0.67); carpal tunnel syndrome: 0.28 % (95 % CI: 0.16-0.49); Achilles tendinopathy (insertional): 0.12 % (95 % CI: 0.05-0.28); and Achilles tendinopathy (non-insertional): 0.07 % (95 % CI: 0.02-0.21). Leaving aside the comparison between Maya-Yucateco and Chontal groups (p = 0.18), we found significant differences (p < 0.001) in

  16. Tibial Bone Density in Athletes With Medial Tibial Stress Syndrome: A Controlled Study

    PubMed Central

    Özgürbüz, Cengizhan; Yüksel, Oğuz; Ergün, Metin; İşlegen, Çetin; Taskiran, Emin; Denerel, Nevzad; Karamizrak, Oğuz

    2011-01-01

    Medial tibial stress syndrome (MTSS) is a common overuse injury of the lower extremity predominantly observed in weight bearing activities. Knowledge about the pathological lesions and their pathophysiology is still limited. Only a single study was found to have investigated tibial bone density in the pain region, revealing lower density in athletes with long standing (range, 5-120 month) MTSS. In a follow-up study, bone density was determined to return to normal levels after recovery. The purpose of the present study was to investigate tibial bone density in athletes with shorter MTSS history (range, 3-10 weeks). A total of 11 athletes (7 males, 4 females) diagnosed with medial tibial stress syndrome were included in the study. The control group consisted of 11 regularly exercising individuals (7 males, 4 females). Tibial, femoral and vertebral bone densities were measured by dual energy x-ray absorptiometry. Total calcium intake was calculated by evaluating detailed nutrition history. No statistically significant differences were found in the tibial, femoral and vertebral bone densities between the groups. No statistically significant difference was found among groups, considering for calcium intake. Tibial bone densities were not lower in athletes with MTSS of 5.0 weeks mean duration (range, 3-10 weeks) compared to the healthy control group. Longitudinal studies with regular tibial bone density measurements in heavily trained athletes are necessary to investigate tibial density alterations in MTSS developing athletes during the course of the symptoms. Key points Tibial, femoral and vertebral bone densities were measured by dual energy x-ray absorptiometry. No differences were found between the MTSS group (MTSS history 3-10 weeks) and the healthy athletes group. PMID:24149568

  17. Tibial bone density in athletes with medial tibial stress syndrome: a controlled study.

    PubMed

    Ozgürbüz, Cengizhan; Yüksel, Oğuz; Ergün, Metin; Işlegen, Cetin; Taskiran, Emin; Denerel, Nevzad; Karamizrak, Oğuz

    2011-01-01

    Medial tibial stress syndrome (MTSS) is a common overuse injury of the lower extremity predominantly observed in weight bearing activities. Knowledge about the pathological lesions and their pathophysiology is still limited. Only a single study was found to have investigated tibial bone density in the pain region, revealing lower density in athletes with long standing (range, 5-120 month) MTSS. In a follow-up study, bone density was determined to return to normal levels after recovery. The purpose of the present study was to investigate tibial bone density in athletes with shorter MTSS history (range, 3-10 weeks). A total of 11 athletes (7 males, 4 females) diagnosed with medial tibial stress syndrome were included in the study. The control group consisted of 11 regularly exercising individuals (7 males, 4 females). Tibial, femoral and vertebral bone densities were measured by dual energy x-ray absorptiometry. Total calcium intake was calculated by evaluating detailed nutrition history. No statistically significant differences were found in the tibial, femoral and vertebral bone densities between the groups. No statistically significant difference was found among groups, considering for calcium intake. Tibial bone densities were not lower in athletes with MTSS of 5.0 weeks mean duration (range, 3-10 weeks) compared to the healthy control group. Longitudinal studies with regular tibial bone density measurements in heavily trained athletes are necessary to investigate tibial density alterations in MTSS developing athletes during the course of the symptoms. Key pointsTibial, femoral and vertebral bone densities were measured by dual energy x-ray absorptiometry.No differences were found between the MTSS group (MTSS history 3-10 weeks) and the healthy athletes group.

  18. Rat Model of Chronic Recurrent Airway Obstructions to Study the Sleep Apnea Syndrome

    PubMed Central

    Farré, Ramon; Nácher, Maria; Serrano-Mollar, Anna; Gáldiz, Juan B; Alvarez, Francisco J; Navajas, Daniel; Montserrat, Josep M.

    2007-01-01

    Study Objectives: To implement a chronic rat model of recurrent airway obstructions to study the obstructive sleep apnea (OSA) syndrome. Design: Prospective controlled animal study. Setting: University laboratory. Patients or Participants: 24 male Sprague-Dawley rats (250–300 g). Interventions: The rats were placed in a setup consisting of a body chamber and a head chamber separated by a neck collar specially designed to apply recurrent airway obstructions with OSA patterns. Rats in the Obstruction group (n=8) were subjected to 5-s obstructions at a rate of 60 per hour, 6 h/day during 4 weeks. Sham rats (n=8) were placed in the setup but no obstructions were applied. Naive rats (n=8) were subjected to no intervention. Measurements and Results: Breathing flow, pressure, CO2 air concentration, and SpO2 showed that the model mimicked OSA respiratory events (obstructive apneas, increased respiratory efforts, and oxygen saturation dips). Animal stress, assessed by body weight and plasma corticosterone, was not significantly different across Obstruction and Sham groups. This supports the concept that this novel model does not introduce a significant burden of stress in the rat after acclimatization to the chamber. Thromboxane-B2/6-keto-Prostaglandin-F1α ratio in plasma, which is an index of vasoconstriction, was significantly increased in the rats subjected to obstructions. Conclusions: The designed animal model of chronic recurrent airway obstructions is feasible and potentially useful to study the mechanisms involved in the cardiovascular consequences of OSA. Citation: Farré R; Nácher M; Serrano-Mollar A et al. Rat model of chronic recurrent airway obstructions to study the sleep apnea syndrome. SLEEP 2007;30(7):930-933. PMID:17682665

  19. Social Attribution in Children with High Functioning Autism and Asperger Syndrome: An Exploratory Study in the Chinese Setting

    ERIC Educational Resources Information Center

    Chan, Raymond C. K.; Hu, Zhou-yi; Cui, Ji-fang; Wang, Ya; McAlonan, Grainne M.

    2011-01-01

    The present study aimed to examine social attribution in children with high-functioning autism (HFA) and Asperger's syndrome (AS). A sample of 20 boys (9 with HFA and 11 with AS) and 20 age-matched controls were recruited for this study. All participated in two tasks measuring social attribution ability, the conventional Social Attribution Task…

  20. Prevalence of Tourette Syndrome and Chronic Tics in the Population-Based Avon Longitudinal Study of Parents and Children Cohort

    ERIC Educational Resources Information Center

    Scharf, Jeremiah M.; Miller, Laura L.; Mathews, Carol A.; Ben-Shlomo, Yoav

    2012-01-01

    Objective: Recent epidemiologic studies have demonstrated that Tourette syndrome (TS) and chronic tic disorder (CT) are more common than previously recognized. However, few population-based studies have examined the prevalence of co-occurring neuropsychiatric conditions such as obsessive-compulsive disorder (OCD) and…

  1. The Role of MT+/V5 during Biological Motion Perception in Asperger Syndrome: An fMRI Study

    ERIC Educational Resources Information Center

    Herrington, John D.; Baron-Cohen, Simon; Wheelwright, Sally J.; Singh, Krishna D.; Bullmore, Edward T.; Brammer, Michael; Williams, Steve C. R.

    2007-01-01

    Asperger Syndrome (AS), a condition on the autistic spectrum, is characterized by deficits in the ability to use social cues to infer mental state information. Few studies have examined whether these deficits might be understood in terms of differences in visual information processing. The present study employed functional magnetic resonance…

  2. Exposure and mindfulness based therapy for irritable bowel syndrome--an open pilot study.

    PubMed

    Ljótsson, Brjánn; Andréewitch, Sergej; Hedman, Erik; Rück, Christian; Andersson, Gerhard; Lindefors, Nils

    2010-09-01

    We conducted a study of a group therapy based on exposure and mindfulness in the treatment of irritable bowel syndrome (IBS). Out of 49 outpatients, most of whom were referred from gastroenterological clinics, 34 entered into the 10-week treatment. Patients were assessed before, immediately after and 6 months after treatment. The assessments consisted of a gastrointestinal symptom diary, self-report questionnaires covering quality of life, gastrointestinal specific anxiety, general functioning, and a psychiatric interview. At post-treatment, the mean reduction in symptoms was 41% and 50% of patients showed clinically significant improvement in symptom level. Patients also showed marked improvement on other outcome measures. Treatment gains were maintained at follow-up. The results support the use of exposure and mindfulness based strategies in the treatment of IBS, but further randomised studies are needed to confirm the efficacy of the treatment.

  3. Cytogenetic studies in patients with secondary leukemia/dysmyelopoietic syndrome after different treatment modalities

    SciTech Connect

    Whang-Peng, J.; Young, R.C.; Lee, E.C.; Longo, D.L.; Schechter, G.P.; DeVita, V.T. Jr.

    1988-02-01

    Cytogenetic studies of 68 patients who developed secondary leukemia (SL)/dysmyelopoietic syndrome (DMS) after extensive chemotherapy and/or radiation therapy as well as patients who developed SL/DMS without such treatment showed that those patients who received radiation alone or with chemotherapy had more extensive numerical and structural abnormalities than those who received only chemotherapy. In terms of the specific chromosomal abnormalities, there are no differences between the various treatment groups. Hypodiploidy is the most common form of aneuploidy in these patients, with the most common numerical abnormality being the loss of chromosome 7. The most common structural abnormalities involved chromosomes 3 and 5. When compared with patients with de novo leukemia and DMS, the chromosomal abnormalities in these patients are more complex and extensive. Serial studies revealed that cytogenetic abnormalities do not precede the development of hematologic changes by significant time periods.

  4. Albumin and Furosemide Combination for Management of Edema in Nephrotic Syndrome: A Review of Clinical Studies

    PubMed Central

    Duffy, Margaret; Jain, Shashank; Harrell, Nicholas; Kothari, Neil; Reddi, Alluru S.

    2015-01-01

    The treatment of edema in patients with nephrotic syndrome is generally managed by dietary sodium restriction and loop diuretics. However, edema does not improve in some patients despite adequate sodium restriction and maximal dose of diuretics. In such patients, combination of albumin and a loop diuretic may improve edema by diuresis and natriuresis. The response to this combination of albumin and a diuretic has not been observed in all studies. The purpose of this review is to discuss the physiology of diuresis and natriuresis of this combination therapy, and provide a brief summary of various studies that have used albumin and a loop diuretic to improve diuretic-resistant edema. Also, the review suggests various reasons for not observing similar results by various investigators. PMID:26457719

  5. Albumin and Furosemide Combination for Management of Edema in Nephrotic Syndrome: A Review of Clinical Studies.

    PubMed

    Duffy, Margaret; Jain, Shashank; Harrell, Nicholas; Kothari, Neil; Reddi, Alluru S

    2015-01-01

    The treatment of edema in patients with nephrotic syndrome is generally managed by dietary sodium restriction and loop diuretics. However, edema does not improve in some patients despite adequate sodium restriction and maximal dose of diuretics. In such patients, combination of albumin and a loop diuretic may improve edema by diuresis and natriuresis. The response to this combination of albumin and a diuretic has not been observed in all studies. The purpose of this review is to discuss the physiology of diuresis and natriuresis of this combination therapy, and provide a brief summary of various studies that have used albumin and a loop diuretic to improve diuretic-resistant edema. Also, the review suggests various reasons for not observing similar results by various investigators. PMID:26457719

  6. Neural bases of the foreign accent syndrome: a functional magnetic resonance imaging case study.

    PubMed

    Katz, W F; Garst, D M; Briggs, R W; Cheshkov, S; Ringe, W; Gopinath, K S; Goyal, A; Allen, G

    2012-06-01

    Foreign accent syndrome (FAS) is a rare disorder characterized by the emergence of a perceived foreign accent following brain damage. Despite decades of study, little is known about the neural substrates involved in this disorder. In this case study, MRI images of the brain were obtained during a speech task for an American English-speaking monolingual female who presented with FAS of unknown etiology and was thought to sound 'Swedish' or 'Eastern European'. On the basis of MR structural imaging, the patient was noted to have frontal lobe atrophy. An fMRI picture-naming task designed to broadly engage the speech motor network revealed predominantly left-hemisphere involvement, including activation of the (1) left superior temporal and medial frontal structures, (2) bilateral subcortical structures and thalamus, and (3) left cerebellum. The results suggest an instance of substantial brain reorganization for speech motor control. PMID:22011212

  7. Genetic modeling of ovarian phenotypes in mice for the study of human polycystic ovary syndrome.

    PubMed

    Feng, Yi; Li, Xin; Shao, Ruijin

    2013-01-01

    Polycystic ovary syndrome (PCOS) presents with a range of clinical complications including hyperandrogenism, polycystic ovaries, chronic oligo/anovulation, infertility, and metabolic alterations related to insulin resistance. Because the mechanism by which this disorder develops is poorly understood, information from experimental models of human disease phenotypes may help to define the mechanisms for the initiation and development of PCOS-related pathological events. The establishment of animal models compatible with human PCOS is challenging, and applying the lessons learned from these models to human PCOS is often complicated. In this mini-review we provide examples of currently available genetic mouse models, their ovarian phenotypes, and their possible relationship to different aspects of human PCOS. Because of the practical and ethical limitations of studying PCOS-related events in humans, our understanding of the mechanisms that contribute to the etiology of human PCOS may be enhanced through further study of these transgenic and knockout mouse models. PMID:23390562

  8. First symbols in a girl with Down syndrome: a longitudinal study from 12 to 18 months.

    PubMed

    Cárdenas, Karina; Rodríguez, Cintia; Palacios, Pedro

    2014-08-01

    Symbolic uses of objects originate in communicative and triadic contexts (adult-child-object). In this longitudinal study we explore the emergence and development of the first symbolic uses in triadic interaction contexts in a girl with Down syndrome between 12 and 18-months of age. We conducted five sessions of video recording, at 12, 13½, 15, 16½, and 18 months chronological age. At each session we videotaped the girl and her mother interacting with different objects. Data were coded in semiotic categories used in previous studies (Rodríguez & Moro, 1999) and a microgenetic analysis was conducted for each session. The first symbolic uses by the girl appeared at 13½ months. Symbols were of different types and levels of complexity, and the adult had an important role in facilitating the production of these symbols.

  9. A longitudinal follow-up study of affect in children and adults with Cornelia de Lange syndrome.

    PubMed

    Nelson, Lisa; Moss, Jo; Oliver, Chris

    2014-05-01

    Studies of individuals with Cornelia de Lange syndrome (CdLS) have described changes in mood and behavior with age, although no empirical or longitudinal studies have been conducted. Caregivers of individuals with CdLS (N  =  67), cri du chat syndrome (CdCS; N  =  42), and Fragile X syndrome (FXS; N  =  142) completed the Mood, Interest and Pleasure Questionnaire (MIPQ) at Time 1 and 2 years later (Time 2). Scores on the MIPQ were significantly lower in the CdLS group compared with the CdCS and FXS groups at Time 1 and Time 2. Lower MIPQ scores were characteristic of older adolescents (> 15 years) and adults with CdLS. However, there were no significant differences in MIPQ scores between Time 1 and Time 2. Age and insistence on sameness predicted MIPQ scores in CdLS. PMID:24871792

  10. Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.

    PubMed

    Colombi, Marina; Dordoni, Chiara; Chiarelli, Nicola; Ritelli, Marco

    2015-03-01

    Joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT) is an evolving and protean disorder mostly recognized by generalized joint hypermobility and without a defined molecular basis. JHS/EDS-HT also presents with other connective tissue features affecting a variety of structures and organs, such as skin, eye, bone, and internal organs. However, most of these signs are present in variable combinations and severity in many other heritable connective tissue disorders. Accordingly, JHS/EDS-HT is an "exclusion" diagnosis which needs the absence of any consistent feature indicative of other partially overlapping connective tissue disorders. While both Villefranche and Brighton criteria include such an exclusion as a mandatory item, a systematic approach for reaching a stringent clinical diagnosis of JHS/EDS-HT is still lacking. The absence of a consensus on the diagnostic approach to JHS/EDS-HT concerning its clinical boundaries with similar conditions contribute to limit our actual understanding of the pathologic and molecular bases of this disorder. In this review, we revise the differential diagnosis of JHS/EDS-HT with those heritable connective tissue disorders which show a significant overlap with the former and mostly include EDS classic, vascular and kyphoscoliotic types, osteogenesis imperfecta, Marfan syndrome, Loeys-Dietz syndrome, arterial tortuosity syndrome, and lateral meningocele syndrome. A diagnostic flow chart is also offered with the attempt to support the less experienced clinician in stringently recognizing JHS/EDS-HT and stimulate the debate in the scientific community for both management and research purposes.

  11. A study of computer-related upper limb discomfort and computer vision syndrome.

    PubMed

    Sen, A; Richardson, Stanley

    2007-12-01

    Personal computers are one of the commonest office tools in Malaysia today. Their usage, even for three hours per day, leads to a health risk of developing Occupational Overuse Syndrome (OOS), Computer Vision Syndrome (CVS), low back pain, tension headaches and psychosocial stress. The study was conducted to investigate how a multiethnic society in Malaysia is coping with these problems that are increasing at a phenomenal rate in the west. This study investigated computer usage, awareness of ergonomic modifications of computer furniture and peripherals, symptoms of CVS and risk of developing OOS. A cross-sectional questionnaire study of 136 computer users was conducted on a sample population of university students and office staff. A 'Modified Rapid Upper Limb Assessment (RULA) for office work' technique was used for evaluation of OOS. The prevalence of CVS was surveyed incorporating a 10-point scoring system for each of its various symptoms. It was found that many were using standard keyboard and mouse without any ergonomic modifications. Around 50% of those with some low back pain did not have an adjustable backrest. Many users had higher RULA scores of the wrist and neck suggesting increased risk of developing OOS, which needed further intervention. Many (64%) were using refractive corrections and still had high scores of CVS commonly including eye fatigue, headache and burning sensation. The increase of CVS scores (suggesting more subjective symptoms) correlated with increase in computer usage spells. It was concluded that further onsite studies are needed, to follow up this survey to decrease the risks of developing CVS and OOS amongst young computer users. PMID:18572794

  12. The Epidemiology of Irritable Bowel Syndrome in the US Military: Findings from the Millennium Cohort Study

    PubMed Central

    Riddle, Mark S; Welsh, Marleen; Porter, Chad K; Nieh, Chiping; Boyko, Edward J; Gackstetter, Gary; Hooper, Tomoko I

    2016-01-01

    OBJECTIVES: Functional gastrointestinal disorders occur more frequently among deployed veterans, although studies evaluating the relative impact of risk factors, including stress and antecedent infectious gastroenteritis (IGE), are limited. We examined risk factors for new-onset irritable bowel syndrome (IBS) among active duty participants in the military's Millennium Cohort Study. METHODS: Medical encounter data from 2001 to 2009, limited to Cohort members on active duty, were used to identify incident IBS cases (any and highly probable). IGE was identified using medical encounter or self-report. Covariate data were obtained from the Millennium Cohort Study surveys and analyzed using Cox proportional hazards methods. RESULTS: Overall, 41,175 Cohort members met the eligibility criteria for inclusion and 314 new-onset cases of IBS were identified among these. Significant risk factors (adjusted hazard ratio, 95% confidence interval) included antecedent IGE (2.05, 1.53–2.75), female gender (1.96, 1.53–2.52), number of life stressors (1: 1.82, 1.37–2.41; 2: 2.86, 2.01–4.06; 3+: 6.69, 4.59–9.77), and anxiety syndrome (1.74, 1.17–2.58). Limited to highly probable IBS, a stronger association with antecedent IGE was observed, particularly when based on medical encounter records (any IGE: 2.20, 1.10–4.43; medical encounter IGE only: 2.84, 1.33–6.09). Precedent anxiety or depression and IGE interacted with increased IBS risk compared with IGE alone. CONCLUSIONS: These results confirm previous studies on the association between sociodemographic or life stressors and IBS. IGE was significantly associated with IBS risk. Whether deployed or not, US service members often encounter repeated exposure to high levels of stress, which, combined with other environmental factors such as IGE, may result in long-term debilitating functional gastrointestinal disorders. PMID:26729548

  13. [Towards a two-dimensional study of burnout syndrome in college students].

    PubMed

    Rosales Ricardo, Yury; Rosales Paneque, Fredy Rafael

    2014-12-01

    A literature review was conducted with a view to propose a new definition for burnout syndrome (BS) among university students, as a two-dimensional syndrome, where the two essential or core dimensions of BS are student exhaustion and student apathy and disinterest. It eliminates the third dimension of efficacy or academic self-efficacy in the specific case of students for not meeting the situational and conceptual requirements of the syndrome per se. PMID:25388185

  14. Carpal tunnel syndrome and work organisation in repetitive work: a cross sectional study in France. Study Group on Repetitive Work

    PubMed Central

    Leclerc, A.; Franchi, P.; Cristofari, M. F.; Delemotte, B.; Mereau, P.; Teyssier-Cotte, C.; Touranchet, A.

    1998-01-01

    OBJECTIVES: To study the determinants of signs of carpal tunnel syndrome (CTS) in repetitive industrial work, with special attention to occupational constraints at group level and management practices of the companies. METHOD: A cross sectional study was conducted in three sectors: assembly line; clothing and shoe industry; food industry. A total of 1210 workers in repetitive work, from 53 different companies, was compared with a control group of 337 workers. Constraints at the workplace were partly self declared, and partly assessed by the occupational physicians in charge of the employees of the company. The definition of CTS was based on a standardised clinical examination. RESULTS: CTS was associated with repetitive work, especially packaging. It was more frequent among subjects who declared psychological and psychosomatic problems and those with a body mass index > or = 27. Dissatisfaction with work, lack of job control, short cycle time, and having to press repeatedly with the hand were associated with the syndrome. An odds ratio (OR) of 2.24 was found for "just in time" production. CONCLUSION: The results emphasise the complexity of the determinants of CTS, the role of psychosocial factors at work and the potentially negative effects of some practices of the companies aimed at enhancing their competitiveness.   PMID:9624269

  15. [Microphthalmos in Pierre Robin syndrome. Clinical and x-ray computed tomographic study].

    PubMed

    Girard, B; Topouzis, F; Saraux, H

    1989-12-01

    The Pierre Robin Syndrome is characterized by three defects (8,9): micrognathia, cleft palate and glossoptosis responsible for respiratory failure. The new definition of this syndrome associates retrognathia, cleft palate and respiratory distress. This respiratory distress is mixed: obstructive due to glossoptosis, and central, secondary to brainstem immaturity (1,2). The main ocular manifestations associated with the syndrome are congenital glaucoma, high congenital myopia and retinal detachment. Microphtalmia has already been reported, but is infrequent. We present a clinical case of a major microphthalmia in a Pierre Robin Syndrome, confirmed by CT scan exploration.

  16. Lung function in post-poliomyelitis syndrome: a cross-sectional study*

    PubMed Central

    de Lira, Claudio Andre Barbosa; Minozzo, Fábio Carderelli; Sousa, Bolivar Saldanha; Vancini, Rodrigo Luiz; Andrade, Marília dos Santos; Quadros, Abrahão Augusto Juviniano; Oliveira, Acary Souza Bulle; da Silva, Antonio Carlos

    2013-01-01

    OBJECTIVE: To compare lung function between patients with post-poliomyelitis syndrome and those with sequelae of paralytic poliomyelitis (without any signs or symptoms of post-poliomyelitis syndrome), as well as between patients with post-poliomyelitis syndrome and healthy controls. METHODS: Twenty-nine male participants were assigned to one of three groups: control; poliomyelitis (comprising patients who had had paralytic poliomyelitis but had not developed post-poliomyelitis syndrome); and post-poliomyelitis syndrome. Volunteers underwent lung function measurements (spirometry and respiratory muscle strength assessment). RESULTS: The results of the spirometric assessment revealed no significant differences among the groups except for an approximately 27% lower mean maximal voluntary ventilation in the post-poliomyelitis syndrome group when compared with the control group (p = 0.0127). Nevertheless, the maximal voluntary ventilation values for the post-poliomyelitis group were compared with those for the Brazilian population and were found to be normal. No significant differences were observed in respiratory muscle strength among the groups. CONCLUSIONS: With the exception of lower maximal voluntary ventilation, there was no significant lung function impairment in outpatients diagnosed with post-poliomyelitis syndrome when compared with healthy subjects and with patients with sequelae of poliomyelitis without post-poliomyelitis syndrome. This is an important clinical finding because it shows that patients with post-poliomyelitis syndrome can have preserved lung function. PMID:24068267

  17. [Night-eating syndrome].

    PubMed

    Takagi, S; Saitoh, S; Miki, T; Shimamoto, K

    2001-03-01

    Morning anorexia, evening hyperphagia and insomnia characterized night-eating syndrome. This syndrome is described in 1955 by Stunkard, et al. It occurred during periods of stress and was associated with a poor outcome of efforts at weight reduction. The prevalence of this syndrome was about 26% of severely obese population in US. In Japan, there is few clinical study of this syndrome. It is thought that this syndrome increases in prevalence with increasing adiposity. The behavior study showed that a coherent pattern of behavior was found in subjects with night-eating syndrome. And neuroendocrine study indicated that the leptin, which was produced from the adipocyts, related this syndrome and night eating behavior.

  18. A study on phenomenology of Dhat syndrome in men in a general medical setting

    PubMed Central

    Prakash, Sathya; Sharan, Pratap; Sood, Mamta

    2016-01-01

    Background: “Dhat syndrome” is believed to be a culture-bound syndrome of the Indian subcontinent. Although many studies have been performed, many have methodological limitations and there is a lack of agreement in many areas. Aims: The aim is to study the phenomenology of “Dhat syndrome” in men and to explore the possibility of subtypes within this entity. Settings and Design: It is a cross-sectional descriptive study conducted at a sex and marriage counseling clinic of a tertiary care teaching hospital in Northern India. Materials and Methods: An operational definition and assessment instrument for “Dhat syndrome” was developed after taking all concerned stakeholders into account and review of literature. It was applied on 100 patients along with socio-demographic profile, Hamilton Depression Rating Scale, Hamilton Anxiety Rating Scale, Mini International Neuropsychiatric Interview, and Postgraduate Institute Neuroticism Scale. Statistical Analysis: For statistical analysis, descriptive statistics, group comparisons, and Pearson's product moment correlations were carried out. Factor analysis and cluster analysis were done to determine the factor structure and subtypes of “Dhat syndrome.” Results: A diagnostic and assessment instrument for “Dhat syndrome” has been developed and the phenomenology in 100 patients has been described. Both the health beliefs scale and associated symptoms scale demonstrated a three-factor structure. The patients with “Dhat syndrome” could be categorized into three clusters based on severity. Conclusions: There appears to be a significant agreement among various stakeholders on the phenomenology of “Dhat syndrome” although some differences exist. “Dhat syndrome” could be subtyped into three clusters based on severity. PMID:27385844

  19. ARTERIAL STIFFNESS AND INFLUENCES OF THE METABOLIC SYNDROME: A CROSS-COUNTRIES STUDY

    PubMed Central

    Scuteri, Angelo; Cunha, Pedro Guimaraes; Cucca, Francesco; Cockcroft, John; Raso, Francesco U Mattace; Muiesan, Maria Lorenza; Ryliškytė, Ligita; Rietzschel, Ernst; Strait, James; Vlachopoulos, Charalambos; Laurent, Stephane; Nilsson, Peter M; Lakatta, Edward G

    2015-01-01

    Specific clusters of metabolic syndrome (MetS) components impact differentially on arterial stiffness, indexed as pulse wave velocity (PWV). Of note, in several population-based studies participating in the MARE (Metabolic syndrome and Arteries REsearch) Consortium the occurrence of specific clusters of MetS differed markedly across Europe and the US. The aim of the present study was to investigate whether specific clusters of MetS are consistently associated with stiffer arteries in different populations. We studied 20,570 subjects from 9 cohorts representing 8 different European countries and the US participating in the MARE Consortium. MetS was defined in accordance with NCEP ATPIII criteria as the simultaneous alteration in ≥3 of the 5 components: abdominal obesity (W), high triglycerides (T), low HDL cholesterol (H), elevated blood pressure (B), and elevated fasting glucose (G). PWV measured in each cohort was “normalized” to account for different acquisition methods. MetS had an overall prevalence of 24.2% (4,985 subjects). MetS accelerated the age-associated increase in PWV levels at any age, and similarly in men and women. MetS clusters TBW, GBW, and GTBW are consistently associated with significantly stiffer arteries to an extent similar or greater than observed in subjects with alteration in all the five MetS components – even after controlling for age, sex, smoking, cholesterol levels, and diabetes mellitus – in all the MARE cohorts. In conclusion, different component clusters of MetS showed varying associations with arterial stiffness (PWV). PMID:24561493

  20. Education and acute coronary syndromes: results from the CARDIO2000 epidemiological study.

    PubMed Central

    Pitsavos, Christos E.; Panagiotakos, Demosthenes B.; Chrysohoou, Christina A.; Skoumas, John; Stefanadis, Christodoulos; Toutouzas, Pavlos K.

    2002-01-01

    OBJECTIVE: As a measure of socioeconomic status, low educational level is positively associated with the risk of developing adverse health events. The aim of this study was to investigate the relationship between the level of education and the risk of developing non- fatal acute coronary syndromes. METHODS: During 2000 and 2001, 1619 randomly selected subjects from several regions of Greece were entered into a case-control study. Of these, 750 were patients with their first acute coronary heart syndrome event, and 869 were hospitalized controls with no cardiovascular disease in their medical history. Trends in cardiovascular risk factors were then examined across patient and control educational level by years of schooling. FINDINGS: In both patients and controls, education status was related to economic and occupation status, smoking habits, physical inactivity, alcohol consumption and non-compliance to treatment. After adjusting for these and other conventional risk factors, as well as for the effects of age and sex, we found that coronary risk increases by 82% (odds ratio (OR) = 1.82, P <0.05) for individuals with a lower level of education, and by 65% (OR = 1.65, P <0.05) for individuals with an average education, compared to those with an academic education. CONCLUSIONS: Although the least-educated subjects adopted a more adverse lifestyle than the more-educated subjects, the inverse association between education and coronary risk was independent from such factors. The inverse association may be due to psychosocial differences, and prospective cohort studies are needed to confirm or refute these results. PMID:12077612