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Singer Ora O Division of Rheumatology, University of Michigan, 300 North Ingalls Street, Suite 7C27, Ann Arbor, MI 48109-5422, USA. Electronic address: - - 2015
Cogan and Behcet syndromes are considered large vessel vasculitides. Both are rare diseases, with varied clinical manifestations affecting multiple organ systems. Although both have hallmark symptoms (ocular and vestibuloauditory inflammation in Cogan syndrome and aphthous ulcers in Behcet syndrome), neither has confirmatory diagnostic testing. Delayed diagnosis can result in poor ...
Pistoia Francesca F Neurological Institute, Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, Via Vetoio, 67100, L'Aquila, Italy, - - 2015
Disorders of consciousness (DOCs) include coma, vegetative state (VS), and minimally conscious state (MCS). Coma is characterized by impaired wakefulness and consciousness, while VS and MCS are defined by lacking or discontinuous consciousness despite recovered wakefulness. Conversely, locked-in syndrome (LIS) is characterized by quadriplegia and lower cranial nerve paralysis with ...
Waite Jane J Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Edgbaston, Birmingham, B15 2TT, UK, - - 2014
Syndrome specific repetitive behavior profiles have been described previously. A detailed profile is absent for Rubinstein-Taybi syndrome (RTS). The Repetitive Behaviour Questionnaire and Social Communication Questionnaire were completed for children and adults with RTS (N = 87), Fragile-X (N = 196) and Down (N = 132) syndromes, and individuals reaching cut-off for autism spectrum disorder (N = 228). ...
Porat Shay - - 2014
Prenatal ultrasound can often reliably distinguish fetal anatomic anomalies, particularly in the hands of an experienced ultrasonographer. Given the large number of existing syndromes and the significant overlap in prenatal findings, antenatal differentiation for syndrome diagnosis is difficult. We constructed a hierarchic tree of 1140 sonographic markers and submarkers, organized ...
Meena Jagdish P JP Department of Pediatrics, Maulana Azad Medical College, Lok Nayak Hospital, New Delhi, - - 2014
Beals syndrome is an autosomal-dominant connective tissue disorder, characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, crumpled ear, and muscular hypoplasia. It has similarities to Marfan syndrome (MFS) in many respects. It has much fewer incidences of eye and heart anomalies compared with MFS. Beals syndrome is caused by a ...
Seifert Wenke W Charite Universitaetsmedizin Berlin, Germany; - - 2014
Postnatal microcephaly, intellectual disability, and progressive retinal dystrophy are major features of autosomal recessive Cohen syndrome, which is caused by mutations in the gene COH1 (VPS13B). We have recently identified COH1 as a Golgi-enriched scaffold protein that contributes to the structural maintenance and function of the Golgi complex. Here, we ...
Karaer Kadri K Intergen Genetics Centre, Ankara, - - 2014
Cardiofaciocutaneous (CFC) syndrome is a rare genetic disorder belonging to the group of RASopathies. It is typically characterized by congenital heart defects, short stature, dysmorphic craniofacial features, intellectual disability, failure to thrive, and ectodermal abnormalities such as hyperkeratosis and sparse, brittle, curly hair. CFC syndrome is caused by dominant mutations ...
Atik Tahir T Department of Pediatrics, Division of Pediatric Genetics, Faculty of Medicine, Ege University, Izmir, - - 2014
LACHT syndrome, Lung Agenesis, Congenital Heart defects, and Thumb anomalies, (Mardini-Nyhan Association OMIM #601612) is a rare condition characterized by unilateral or bilateral lung agenesis, complex cardiac defects, especially anomalous pulmonary venous return, and thumb anomalies. Based on previous cases, its inheritance pattern seems to be autosomal recessive. In 1985, ...
Kuroda Yukiko Y Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, - - 2014
Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disease characterized by gastrointestinal polyposis and mucocutaneous pigmentation. Germline point mutations in the serine/threonine kinase 11 (STK11) have been identified in about 70% of patients with PJS. Only a few large genomic deletions have been identified. We report on a girl with ...
Myklebust Line M LM Department of Molecular Biology, University of Bergen, N-5020 Bergen, - - 2014
The X-linked lethal Ogden syndrome was the first reported human genetic disorder associated with a mutation in an N-terminal acetyltransferase (NAT) gene. The affected males harbour a Ser37Pro mutation in the gene encoding hNaa10, the catalytic subunit of NatA, the major human NAT involved in the co-translational acetylation of proteins. ...
Mehanna Eman T ET Department of Biochemistry, Faculty of Pharmacy, Suez Canal University , Ismailia , Egypt - - 2014
Abstract Context: Myeloperoxidase is a heme protein secreted by activated macrophages and generates intermediates that oxidize lipoproteins. Myeloperoxidase-463G/A is a functional polymorphism involved in regulation of myeloperoxidase expression. Objective: The aim of this study is to assess the relation of myeloperoxidase-463G/A polymorphism with metabolic syndrome and its component traits in ...
Diosteanu Raluca R Department of Internal Medicine/Cardiology, Heart Centre, University Leipzig, Strümpellstraße 39, 04289, Leipzig, Germany, - - 2014
Sneddon syndrome-a rare cause of aortic and mitral valve stenosis. Sneddon syndrome is a rare disorder that leads to repeated occurrence of cerebrovascular disease and skin manifestation, defined as livedo racemosa generalisata. The authors report the occurrence of multiple valve degenerations in a 49-year-old patient with Sneddon syndrome, which seemed ...
Recker Florian F Department of Clinical Chemistry and Clinical Pharmacology, University of Bonn, Sigmund-Freud-Str. 25, 53127, Bonn, - - 2014
The oculocerebrorenal syndrome of Lowe (OCRL) is a rare X-linked multi-systemic disorder, almost always characterized by the triad of congenital cataract, cognitive and behavioral impairment and a proximal tubulopathy. Twenty-eight novel patients with suspected Lowe syndrome were studied. All patients carried OCRL gene defects with mutational hot spots at CpG ...
Gennuso Keith P KP University of Wisconsin Population Health Institute, 575C Warf Office Building, 610 Walnut St., Madison, WI, 53726, USA, - - 2014
The aim of this study was to examine the relationship among sedentary behaviour (SB) and the metabolic syndrome and its components by age, moderate-to-vigorous physical activity (MVPA) and sex. A cross-sectional analysis was performed on 2003-2006 National Health and Nutrition Examination Survey data from 5,076 adults aged ≥18 years (mean ± SD = 43.8 ± 19.5). SB ...
Hufnagel Robert B RB Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, Ohio, - - 2014
Oliver-McFarlane syndrome is characterised by trichomegaly, congenital hypopituitarism and retinal degeneration with choroidal atrophy. Laurence-Moon syndrome presents similarly, though with progressive spinocerebellar ataxia and spastic paraplegia and without trichomegaly. Both recessively inherited disorders have no known genetic cause. Whole-exome sequencing was performed to identify the genetic causes of these disorders. ...
Cen Zhidong Z Department of Neurology, The Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou 310009, PR - - 2014
Silver syndrome/spastic paraplegia 17 is an autosomal dominant, complicated hereditary spastic paraparesis in which spasticity of the legs is accompanied by amyotrophy of the hands and occasionally also the lower limbs. Heterozygous mutations of its causative gene, the Berardinelli-Seip congenital lipodystrophy gene, have a broader spectrum of phenotypes including Silver ...
Gaudet Daniel D From the ECOGENE-21 Clinical Research Center, Chicoutimi Hospital, Chicoutimi, and the Department of Medicine, Université de Montréal, Montreal - both in Canada (D.G., D.B., K.T.); and Isis Pharmaceuticals, Carlsbad (V.J.A., W.S., S.G.H., R.S.G., B.F.B., M.J.G., R.M.C.), and the Department of Medicine, Division of Endocrinology-Metabolism, University California, San Diego, School of Medicine, La Jolla (J.L.W.) - both in - - 2014
The familial chylomicronemia syndrome is a genetic disorder characterized by severe hypertriglyceridemia and recurrent pancreatitis due to a deficiency in lipoprotein lipase (LPL). Currently, there are no effective therapies except for extreme restriction in the consumption of dietary fat. Apolipoprotein C-III (APOC3) is known to inhibit LPL, although there is ...
Carsetti Rita R Immunology Unit, Immunology and Pharmacology Area, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy; Diagnostic Immunology Unit, Dept. of Laboratories, Bambino Gesù Children's Hospital, IRCCS, Rome, - - 2014
Children with Down syndrome have increased susceptibility to infections and a high frequency of leukemia and autoimmune disorders, suggesting that immunodeficiency and immune dysfunction are integral parts of the syndrome. A reduction in B-cell numbers has been reported, associated with moderate immunodeficiency and normal immunoglobulin levels. Here we compared B-cell ...
Bozkaya Halil H Department of Radiology, Division of Interventional Radiology, Ege University, School of Medicine, 35100, Izmir, Turkey, - - 2014
Kasabach-Merritt syndrome (KMS) is a rare complication of cavernous hemangiomas characterized with anemia, thrombocytopenia, and consumption coagulopathy. This syndrome usually develops due to superficial soft tissue hemangiomas in infancy and childhood. KMS developing secondarily to hepatic hemangioma is very rare. In this report, we aimed to present the treatment of ...
Evans Tyler A TA From the *Division of Plastic Surgery, and †Department of Anesthesia, Indiana University School of Medicine, Indianapolis, - - 2014
Freeman-Sheldon syndrome is a congenital disorder that has been suggested to be associated with malignant hyperthermia. Clinical features of the Freeman-Sheldon syndrome include flexion contractures and characteristic facial features, including microstomia and a whistling shape to the lips. We report a case of malignant hyperthermia in a 3-year-old girl with ...
Shastin Dmitri D Department of Neurosurgery, Leeds General Infirmary , Leeds , - - 2014
The authors present a case of anterior sacral meningocoele demonstrating a clinical picture of cauda equina syndrome. To the best of our knowledge, such presentation has not yet been reported.
Martin Kari L KL Department of Dermatology , University of Missouri at Columbia, Columbia, Missouri; Department of Pediatrics, University of Missouri at Columbia, Columbia, - - 2014
PHACE (posterior fossa, hemangioma, arterial lesions, cardiac, and eye) syndrome consists of infantile hemangiomas of the head and neck along with a spectrum of noncutaneous anomalies. Neurodevelopmental abnormalities have also been noted. Here we describe the association between PHACE syndrome and abnormalities in oropharyngeal development and coordination manifesting as dysphagia ...
Mora Dana C DC a Department of Epidemiology and Prevention, Division of Public Health Sciences , Wake Forest School of Medicine , Winston-Salem , NC , - - 2014
ABSTRACT Background This manuscript evaluates the variability in the prevalence of epicondylitis, rotator cuff syndrome, low back pain, and lower extremity pathology among immigrant Latino farmworkers and non-farmworkers. Methods Data were collected from a study among 272 farmworkers and non-farmworkers. Participants were recruited in eastern and central North Carolina. A ...
Mendiratta Vibhu V Department of Dermatology and Sexually Transmitted Diseases, Lady Hardinge Medical College and Suchita Kriplani Hospital, Shaheed Bhagat Singh Marg, Delhi, - - 2014
We report a unique presentation of Netherton syndrome with recurrent pustular eruptions leading to an erroneous diagnosis of infantile pustular psoriasis. Light microscopy of eyebrow hair showed trichorrhexis invaginata, consistent with Netherton syndrome.
Wapner Ronald J RJ Departments of Obstetrics and Gynecology and Pathology, Columbia University, New York, - - 2014
Estimate performance of a single-nucleotide-polymorphism (SNP)-based noninvasive prenatal test for five microdeletion syndromes. Four hundred sixty-nine samples (358 plasma samples from pregnant women, 111 artificial plasma mixtures) were amplified using massively multiplex PCR, sequenced, and analyzed using the Next-generation Aneuploidy Test Using SNPs (NATUS) algorithm for the presence or absence ...
Tadokoro-Cuccaro Rieko R Department of Paediatrics, Addenbrooke's Hospital, University of Cambridge, Cambridge, - - 2014
Androgen insensitivity syndrome (AIS) can present with a wide range of phenotypes, and its management requires a multidisciplinary approach from diagnosis in infancy to adulthood. This review provides an update on some clinical and genetic aspects in AIS. Additional outcome data on surgical and psychosexual findings are presented, together with ...
Yang Linlin L Center for Chronic Immunodeficiency, University Medical Center Freiburg, Freiburg, - - 2014
The hyper-IgE syndromes have been recognized as a group of primary immunodeficiencies characterized by eczema, recurrent skin and lung infections, and elevated serum IgE. Recently, mutations in phosphoglucomutase 3 (encoding PGM3, which is involved in the protein glycosylation pathway) have been identified in autosomal recessive forms of hyper-IgE syndromes. Autosomal ...
Peixoto Isy Lima IL Amazonas Federal University, Manaus, AM, - - 2014
Costello syndrome (CS) is a rare genetic disorder, first described by Costello in 1971, caused by mutations in the HRAS proto-oncogene. Clinical findings include facial dysmorphism, skin disorders, cognitive impairment, cardiac and musculoskeletal defects. There is an increased risk of malignancies in these patients, due to the proto-oncogene mutation, and ...
Dogan Ali A Departments of Orthopedics and - - 2014
Abstract Macrodactyly is a rare congenital deformity of the extremities, and with clinodactyly is even rarer. Both conditions may also be associated with a lipofibromatous hamartoma of the median nerve. We report an adult woman with clinodactyly and macrodactyly of the fourth and fifth fingers of her left hand associated ...
Hughes Michael S MS Harvard University (MSH); University of Saskatchewan (EJA); Massachusetts Eye and Ear Infirmary (DMC, RCS); and Massachusetts General Hospital (FH), Boston, - - 2014
: Central nervous system infiltration of Waldenström's macroglobulinemia is referred to as Bing-Neel Syndrome. We describe 2 patients whose clinical presentation was due to isolated involvement of the anterior visual pathways. The mechanism of visual failure in Bing-Neel Syndrome may involve both infiltrative and autoimmune processes.
Butler Daniel P DP London, United Kingdom From the Department of Plastic and Reconstructive Surgery, The Royal Free - - 2014
Congenital facial palsy can result in significant disfigurement. A potential treatment option is free functional muscle transfer to reanimate the face. For this to be possible, a suitable recipient artery and vein must be present in the affected hemiface. In this study, the authors aim to identify whether patients with ...
Lefter Stela S *Department of Neurology, Cork University Hospital, Cork, Ireland; †Department of Neurology, Beaumont Hospital, Dublin, Ireland; ‡Mater Private Hospital, Dublin, Ireland; §Department of Neurology, Children's University Hospital, Dublin, Ireland; ¶Department of Neurology, Belfast City Hospital, Northern Ireland, United Kingdom; and ‖Department of Pathology, University College Cork, Cork, - - 2014
Andersen-Tawil syndrome (ATS) is a rare autosomal dominant potassium channelopathy characterized by a triad of periodic paralysis, ventricular arrhythmias, and distinctive dysmorphic abnormalities. We present a 19-year-old man with characteristic skeletal dysmorphic features of ATS, early nonfluctuating proximal lower limb weakness from childhood, and neonatal focal seizures. He later developed ...
Cruz L L Department of Pediatrics, Cooper University Health Care, Cooper Medical School of Rowan University, Camden, NJ, - - 2014
Mitchell-Riley syndrome/Martinez-Frias syndrome (MRS/MFS) is a rare, autosomal recessive disorder with multisystem involvement and poor prognosis. Most reported cases have been associated with homozygous or compound heterozygous mutations in the RFX6 gene, a transcriptional regulatory factor for pancreatic morphogenesis. Given the limited number of reported cases, the syndrome may be ...
Bhaijee Feriyl F From the Department of Pathology, University of Mississippi Medical Center, - - 2014
Muir-Torre syndrome (MTS) is a rare autosomal-dominant genodermatosis characterized by sebaceous neoplasms and one or more visceral malignancies. Sebaceous tumors include sebaceous adenoma and carcinoma, which may be solitary or multiple. Visceral malignancies most often arise in the colorectum and endometrium. Because a subset of patients with phenotypic MTS will ...
Miner Jeffrey H JH Renal Division, Washington University School of Medicine, St Louis, Missouri, - - 2014
Malone et al. performed next-generation sequencing on 70 families with focal segmental glomerulosclerosis (FSGS) and discovered that 10% had variants in surprising 'old' genes, COL4A3 and COL4A4, which are involved in Alport syndrome and thin basement membrane nephropathy. These data show that a subset of renal manifestations associated with COL4A3 ...
Okiro Patricia Opon PO a University of Cape Town, Faculty of Health Sciences, Division of Anatomical - - 2014
Abstract ABSTRACT The short rib-polydactyly syndromes are a heterogeneous group of lethal autosomal recessive disorders (SRP I - IV) which result from cellular ciliary dysfunction during embryogenesis. Diagnosis is conventionally based upon radiographic imaging. Since 1976, post-mortem investigations of six affected foetuses or stillbirths have been undertaken and the visceral ...
Yeh P P Department of Haematopathology, Peter MacCallum Cancer Centre, Melbourne, Victoria, - - 2014
Vanishing bile duct syndrome (VBDS) in association with Hodgkin lymphoma (HL) is well described but not well understood. We report an unusual case of a 75-year-old patient presenting with biopsy-proven VBDS and immunodeficiency, without identifiable cause, which showed a waxing and waning course, culminating in the development of HL 18 ...
Caruana Maryanne M Department of Cardiology, Mater Dei Hospital, Birkirkara Bypass, Birkirkara, MSD 2090, Malta, - - 2014
Aneurysmal dilatation of the aortic sinuses of Valsalva has been most extensively documented in the setting of aortopathies, particularly Marfan syndrome. On the other hand, there is limited data in the literature about congenital sinus of Valsalva aneurysms outside this context. For the purpose of this review, we carried out ...
Brocklebank Vicky V Renal Services Centre, Freeman Hospital, Newcastle-upon-Tyne, - - 2014
Atypical haemolytic uraemic syndrome is a thrombotic microangiopathy with a predominant renal phenotype. Research developments in the last 15 years have led to the elucidation of the role of complement over activation in the pathogenesis of the disease. This was to lead to the successful introduction of targeted pharmacological therapy, in ...
Conidi Frank - - 2014
This article reviews some of the unusual sports-related neurologic disorders within the new and rapidly growing field of sports neurology that neurologists may encounter. Surfer's myelopathy is a potentially tragic disorder predominantly affecting novice surfers, leaving many who are affected by this condition with permanent paralysis. Neck-tongue syndrome is a ...
Meng Linyan L Department of Molecular and Human Genetics, Baylor College of Medicine, and Texas Children's Hospital, Houston, Texas 77030, - - 2014
Angelman syndrome is a single-gene disorder characterized by intellectual disability, developmental delay, behavioural uniqueness, speech impairment, seizures and ataxia. It is caused by maternal deficiency of the imprinted gene UBE3A, encoding an E3 ubiquitin ligase. All patients carry at least one copy of paternal UBE3A, which is intact but silenced ...
Spiller Robin R Biomedical Research Unit, Nottingham Digestive Diseases Centre, University of Nottingham, Queens Medical Centre, Nottingham, - - 2014
As our population ages it is increasingly common to encounter patients with irritable bowel syndrome (IBS)-like symptoms and diverticulosis, but the nature of the association is obscure. This Editorial discusses the paper from Japan showing an association between IBS-like symptoms and left-sided but not right-sided diverticulosis. The left colon with ...
Kwon Jae Hyun JH Department of Radiology, Dongguk University Ilsan Hospital, 814 Siksa-dong, Ilsandong-gu, Goyang-si, Gyeonggi-do, 410-773, South Korea, - - 2014
In the treatment of afferent loop syndrome, jejunostomy or Roux-en-Y gastrojejunostomy have tended to represent the preferred procedures. In patients who are not good candidates for surgery, palliative treatment-i.e., percutaneous transhepatic biliary drainage or percutaneous direct transperitoneal jejunostomy techniques-have been applied. Transhepatic biliary drainage confers a risk of ascending cholangitis. ...
Spruijt B B Dutch Craniofacial Center, Sophia Children's Hospital-Erasmus University Medical Center, Wytemaweg 80, Room SK-1202, PO Box 2060, 3015 CN, Rotterdam, The Netherlands, - - 2014
Apert syndrome is a rare syndrome characterized by a consistent phenotype including bilateral coronal suture synostosis with an enlarged anterior fontanel, midface hypoplasia, and complex symmetric syndactyly of hands and feet. We present a boy with Apert syndrome caused by the pathogenic c.755C > G p.Ser252Trp mutation in the FGFR2 ...
Sundufu Abu James AJ Mercy Hospital Research Laboratory (MHRL), Kulanda Town, Bo, Sierra - - 2014
The purpose of this study was to conduct syndromic surveillance for important veterinary diseases in Koinadugu district, Northern Province, Sierra Leone. This study examined all veterinary syndromic surveillance reports submitted to the district veterinary office from January 2011 through December 2012. In total, 5679 case reports were submitted, including 2394 ...
Dong XinQi X Rush Institute for Healthy Aging, Rush University Medical Center, Chicago, Ill., - - 2014
Background: Elder abuse and metabolic syndromes are both important public health issues and are associated with increased morbidity and mortality. This study aimed to examine the associations between elder abuse and risk for metabolic syndromes. Methods: The Chicago Health and Aging Project (CHAP) cohort is a population-based study (n = ...
De Groote P P 1] Inflammation Research Center, Ghent 9052, Belgium [2] Department of Biomedical Molecular Biology, Ghent University, Ghent 9052, - - 2014
Receptor-interacting protein kinase 4 (RIPK4)-deficient mice have epidermal defects and fusion of all external orifices. These are similar to Bartsocas-Papas syndrome and popliteal pterygium syndrome (PPS) in humans, for which causative mutations have been documented in the RIPK4 and IRF6 (interferon regulatory factor 6) gene, respectively. Although genetically distinct, these ...
Stefanov-Kiuri Stefan S Hospital Universitario La Paz, Madrid, Spain - - 2014
A 77-year-old woman presented with fingertip ulcers and arteriovenous malformation of the left arm that had been present since childhood. Physical examination revealed hypertrophy, with a giant arteriovenous malformation involving her fingers, forearm, elbow, and upper arm.
Withana Milinda - - 2014
Klippel-Trenaunay syndrome is a rare congenital mesodermal abnormality characterized by bone and soft tissue hypertrophy, extensive hemangioma and venous abnormalities. We report the case of a patient with two additional rare clinical manifestations in the background of Klippel-Trenaunay syndrome, namely, acanthocytosis and splenic and retroperitoneal lymphangioma. A 24-year-old Sri Lankan ...
Consolandi Clarissa C Institute of Biomedical Technologies, National Research Council (ITB-CNR), Segrate, Milan, Italy. Electronic address: - - 2014
Behçet syndrome is a systemic inflammatory condition characterized by muco-cutaneous and ocular manifestations, with central nervous system, vascular and/or gastro-intestinal involvement. The association of microbiota with Behçet syndrome has not been shown yet. Our work was aimed to compare the gut microbiota structure and the profiles of short-chain fatty acids ...
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