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Dogruk Kacar Seval S Departamento de Dermatología y Venereología, Facultad de Medicina, Afyon Kocatepe University, Afyonkarahisar, - - 2014
Turner syndrome is a genetic disorder characterized by abnormalities of the X chromosome. An association with many autoimmune diseases is described as well as skin diseases such as psoriasis, vitiligo and alopecia areata. Trachyonychia is characterized by irregular opaque appearance on the nail plate of all 20 nails. It may ...
DU Xue X Department of Obstetrics and Gynecology, General Hospital, Tianjin Medical University, Tianjin 300052, P.R. - - 2014
Sex reversal syndrome is a rare congenital condition of complete or disordered gonadal development leading to discordance between the genetic, gonadal and phenotypic sexes, including 46,XX and 46,XY. The gonadoblastoma on the Y-chromosome (GBY) region is associated with an increased risk of developing type II germ cell tumors/cancer. The present ...
Saleh Caroline M G CM Department of Gastroenterology and Hepatology, Academic Medical Center Amsterdam, Meibergdreef 9, Amsterdam 1105 AZ, The - - 2014
Rumination is a phenomenon characterized by retrograde flow of gastric contents into the mouth, otherwise known as regurgitation. Repetitive excessive occurrence of rumination is considered pathologic and is known as the rumination syndrome. Belching occurs occasionally in everyone and is often not related to a disease or a pathologic condition. ...
Rosado Flavia G FG Mayo Clinic, Rochester, MN, - - 2014
TEMPI syndrome (telangiectasias, elevated erythropoietin level and erythrocytosis, monoclonal gammopathy, perinephric fluid collections, and intrapulmonary shunting) is a recently described syndrome that, owing to erythrocytosis, may be confused with polycythemia vera. It is best classified as a type of plasma cell dyscrasia with paraneoplastic manifestations, similar to POEMS syndrome (polyneuropathy, ...
Zuo Zhuang Z Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX, - - 2014
Myelodysplastic syndromes are a heterogeneous group of clonal bone marrow hematopoietic stem cell disorders characterized by ineffective hematopoiesis and peripheral cytopenias. Chromosomal abnormalities and gene mutations have been shown to have essential roles in pathogenesis and correlate with prognosis. Molecular markers, however, are not integrated into currently used prognostic systems. ...
Mondel Prabath Kumar PK Department of Interventional Neuroradiology, Lilavati Hospital and Research Centre, A-791, Bandra Reclamation, Bandra(W), Mumbai, 400 050, Maharashtra, India, - - 2014
Crouzon's syndrome is the commonest variety of syndromic craniosynostosis. Life-threatening ear bleed due to ruptured jugular venous diverticulum in Crouzon's syndrome has not been described previously. In patients with syndromic craniosynostosis, definitive repair of jugular diverticulum by open surgery is fraught with high risk of bleeding, poor functional outcomes, and ...
Takagi H H Department of Cardiovascular Surgery, Shizuoka Medical Center, Shizuoka, Japan - - - 2014
Duodenal obstruction caused by abdominal aortic aneurysm (AAA), i.e. "aortoduodenal syndrome," first described by Osler in 1905 is a rare clinical entity, with only several dozens of cases reported in the literature. In the present paper, we systematically searched literature and reviewed them. Databases including MEDLINE and EMBASE were searched ...
Shimamura Yoshinosuke - - 2014
Tubulointerstitial nephritis and uveitis syndrome is a disorder characterized by a combination of acute tubulointerstitial nephritis and uveitis. Immunoglobulin A nephropathy is defined by the presence of immunoglobulin A deposits in glomerular mesangial areas. In this report, we describe a rare case of tubulointerstitial nephritis and uveitis syndrome complicated by ...
Camtosun Emine - - 2014
Abstract Background: Wolfram syndrome is an autosomal recessive disorder caused by mutations in the WFS1 gene. Clinical heterogeneity has been reported both within and between families with WFS1 mutations. Subjects: The first case was diagnosed with insulin-dependent diabetes mellitus with positive for pancreatic autoantibodies and had a ketoacidotic attack in ...
Boyle Martine Isabel MI Applied Human Molecular Genetics, Kennedy Center, Department of Clinical Genetics, Rigshospitalet, University of Copenhagen, Glostrup, - - 2014
Cornelia de Lange Syndrome (CdLS; MIM #122470, 300590, 610759, 614701, 300882) is a rare and clinically variable disorder that affects multiple organs. It is characterized by intellectual disability (mild to severe), distinctive facial features, pre- and postnatal growth retardation, and hirsutism. Congenital anomalies include malformations of the upper limbs, gastrointestinal ...
Muthusamy Karthik K Section of Neurology, Department of Neurological Sciences, Christian Medical College, Vellore, Tamil Nadu, - - 2014
Hypomyelination, hypodontia, hypogonadotropic hypogonadism (4H) syndrome is a rare hypomyelination disorder with around 40 cases reported worldwide. Children with hypomyelination, hypodontia, hypogonadotropic hypogonadism syndrome present with varying degrees of developmental delay with a spastic ataxic syndrome with delayed eruption of teeth along with disruption in the eruption sequence, hypogonadotropic hypogonadism, ...
Duan Yanchao Y aDepartment of Hematology, Qilu Hospital of Shandong University, Jinan bDepartment of Hematology, Affiliated Hospital of Taishan Medcial University cDepartment of Internal Medicine, The Central Hospital of Taian, Taian, - - 2014
A 52-year-old woman was admitted to the hospital three times in a span of 5 years in hypovolemic shock because of spontaneous and massive bleeding in the pleural and abdominal cavity. Blood tests revealed a high number of blood cells, and bone marrow smears showed trilineage myeloproliferation. Serum erythropoietin level ...
Beunders Gea G Department of Clinical Genetics, VU University Medical Center, Amsterdam, The - - 2014
AUTS2 syndrome is characterized by low birth weight, feeding difficulties, intellectual disability, microcephaly and mild dysmorphic features. All affected individuals thus far were caused by chromosomal rearrangements, variants at the base pair level disrupting AUTS2 have not yet been described. Here we present the full clinical description of two affected ...
Illingworth Josephine L JL Department of Psychiatry, University of Cambridge, Douglas House, 18d Trumpington Road, Cambridge CB2 8AH, UK. Electronic address: - - 2014
Seizure precipitants are commonly reported in the general population of people with epilepsy. However, there has been little research in this area in people with epilepsy and intellectual disability (ID). We conducted a survey of the situations associated with increased or decreased seizure likelihood in this population. The aim of ...
Kopelman Michael D MD King's College London. Electronic address: - - 2014
In this review, the clinical, neuropsychological, and neuroimaging findings in the alcoholic Korasakoff syndrome and in thalamic amnesia, resulting from focal infarction, are compared. In both disorders, there is controversy over what is the critical site for anterograde amnesia to occur-damage to the anterior thalamus/mammillo-thalamic tract has most commonly been ...
Kwon Hanna H Department of Family Medicine, Yonsei University College of Medicine , Seoul , Korea - - 2014
Abstract We studied relationships between testosterone, metabolic syndrome, and mean carotid intima-media thickness (IMT) in aging men. We enrolled 935 men who had participated in a health examination. The median age was 57.0 years. Mean IMT showed a significant and negative linear correlation with testosterone (correlation co-efficiency = -0.067, p = 0.039). There was ...
Zaman Azrina A Ear, Nose and Throat Department, Doncaster and Bassetlaw NHS Foundation Trust, Armthorpe Road, Doncaster, DN2 - - 2014
Waardenburg Syndrome accounts for 2-5% of patients with congenital hearing loss with an estimated prevalence of 1 in 42 000 (or 0.023 per 1000). We report seven cases of Waardenburg syndrome (or suspected Waardenburg syndrome) diagnosed following the introduction of universal neonatal hearing screening. Patients with congenital hearing loss and ...
Williams Sophie S University of Derby, UK - - 2014
Polycystic ovary syndrome affects 6  percent of women. Symptoms include hirsutism, acne, and infertility. This research explores the impact of polycystic ovary syndrome on women's lives using photovoice. Nine participants photographed objects related to their quality of life and made diary entries explaining each photograph. Three themes emerged from thematic analysis ...
Yang Chao C Gastrointestinal Department of Southern Building, General Hospital of Chinese PLA, Beijing, 100853, - - 2014
Nuclear accidents and terrorism present a serious threat for mass casualty. Accidental or intended radiation exposure leads to radiation-induced gastrointestinal (GI) syndrome. However, currently there are no approved medical countermeasures for GI syndrome. Thus, developing novel treatments for GI syndrome is urgent. Mesenchymal stem cells (MSCs) derived from bone marrow ...
Borte Stephan S Division of Clinical Immunology and Transfusion Medicine, Department of Laboratory Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden; Translational Centre for Regenerative Medicine (TRM), University of Leipzig, Leipzig, Germany; ImmunoDeficiencyCenter Leipzig (IDCL), Hospital St. Georg gGmbH Leipzig, Leipzig, Germany. Electronic address: - - 2014
The lack or marked reduction of recently formed T and B cells provides a basis for neonatal screening for severe combined immunodeficiencies (SCID) and X-linked agammaglobulinemia (XLA). Newborns with other conditions are also identified if a severe T or B cell lymphopenia is present at birth. We retrospectively analyzed Guthrie ...
Ramaekers Paul P Department of Gynaecology & Obstetrics, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium; Department of Gynaecology & Obstetrics, Ghent University Hospital, Ghent, - - 2014
Bladder exstrophy is a rare malformation. Prenatal diagnosis is usually an incidental finding on routine ultrasound examination. Triple-X syndrome (karyotype 47,XXX) is the most frequent sex chromosome aneuploidy in live-born females (approximately 1 in 1000). The diagnosis is often not made because women with 47,XXX karyotype have no or hardly ...
Lui Tun Hing TH Department of Orthopaedics and Traumatology, North District Hospital, Hong Kong SAR, China - - 2014
Gouty tophus of the tarsal tunnel is a rare cause of posterior tarsal tunnel syndrome. We present a case of acute posterior tarsal tunnel syndrome due to gouty tophus that required early tarsal tunnel release in order to avoid irreversible nerve damage. The presence of background neuropathy resulted in a ...
Petaros Anja A Department of Forensic Medicine and Criminalistics, Rijeka University School of Medicine, Braće Branchetta 20, HR-51000, Rijeka, Croatia, - - 2014
This case report offers a multidisciplinary interpretation of the violent death of a 4-year-old girl suffering from Alagille syndrome who died after a low-height fall that resulted in temporal bone fracture and a large epidural hematoma. The article evidences the macroscopical and microscopical characteristics of the syndrome, focusing especially on ...
Gerds Aaron T AT Leukemia Program, Cleveland Clinic Taussig Cancer Institute, Desk R35, 9500 Euclid Avenue, Cleveland, OH, 44195, USA, - - 2014
Patients with the myelodysplastic syndromes/myeloproliferative neoplasm (MDS/MPN) overlap, including chronic myelomonocytic leukemia (CMML), atypical chronic myeloid leukemia (aCML), MDS/MPN-unclassifiable (MDS/MPN-U), and refractory anemia with ring sideroblasts associated with marked thrombocytosis (RARS-T), often present with findings of both dysplasia and marrow proliferation, occupying the border region of two seemingly divergent camps. ...
Wong Leonie C H LC Cardiac & Cell Sciences Institute, St. George's University of London, London, United - - 2014
-Sudden Arrhythmic Death Syndrome (SADS) defines a sudden unexpected and unexplained death despite comprehensive pathological and toxicological investigation. Previous studies have focused on evaluation of adult relatives. There is however a lack of data in children, leading to highly variable management. We sought to determine the clinical utility of cardiac ...
Bertolini G G Diagnostic Imaging and Interventional Radiology, 'San Marco' Veterinary Clinic, Padova, 35143, - - 2014
A five-year-old intact male golden retriever dog was evaluated for cervical pain and right hemiparesis. Clinical and computed tomography features suggested a caudal cervical instability and myelopathy due to a cervicoscapular malformation resembling the human Klippel-Feil Syndrome with Sprengel Deformity, a rare complex congenital disorder. Polymerase chain reaction (PCR) and ...
Tenorio Jair J CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain; Molecular Endocrinology Unit - Overgrowth Syndromes Laboratory, INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario La Paz, Universidad Autónoma de Madrid (UAM), Madrid, - - 2014
Overgrowth syndromes (OGS) are a group of disorders in which all parameters of growth and physical development are above the mean for age and sex. We evaluated a series of 270 families from the Spanish Overgrowth Syndrome Registry with no known overgrowth syndrome. We identified one de novo deletion and ...
Santhanam Rengarajan R Dept of Neurosurgery, Sree Balaji Medical College & Hospital, Bharath University, Chennai, India. Electronic address: - - 2014
A case of the Guillain-Barré syndrome occurring after otherwise uneventful cardiac surgery using cardiopulmonary bypass is presented. Though the Guillain-Barré syndrome has been reported after surgical procedures, there are very few case reports after cardiopulmonary bypass surgery in the literature. The exact pathophysiological cause of the syndrome is still unknown. ...
Liu Chunqiao C Neurobiology-Neurodegeneration and Repair Laboratory (N-NRL), MSC0610, 6 Center Drive, Bethesda, MD 20892, USA cqliu99@gmail.com Tiansen.Li@nih.gov - - 2014
Planar cell polarity (PCP) signaling plays a critical role in tissue morphogenesis. In mammals, disruption of three of the six "core PCP" components results in polarity-dependent defects with rotated cochlear hair cell stereocilia and open neural tube. We recently demonstrated a role of Prickle1, a core PCP molecule in Drosophila, ...
Hsieh Wan-Chen WC Graduate Institute of Life Science, National Defense Medical College, Taipei, - - 2014
Emerging evidence indicates that innate immunodeficiency syndromes are linked to mutations in innate receptors and to specific infections. X-linked lymphoproliferative syndrome type-2 (XLP-2) is associated with deficiency in X-linked inhibitor of apoptosis protein (XIAP), with poorly understood molecular mechanisms. Here we showed that XIAP-deficiency selectively impaired BCL10-mediated innate responses to ...
Gunatilake Sonali - - 2014
BackgroundGuillain¿Barré syndrome is an immune mediated acute inflammatory polyradiculo-neuropathy involving the peripheral nervous system. Commonest presentation is acute or subacute flaccid ascending paralysis of limbs. Rarely autonomic dysfunction can be the presenting feature of Guillain¿Barré syndrome. Raynaud¿s phenomenon, although had been described in relation to many disease conditions, has not ...
Garayzábal Heinze Elena E Department of Linguistics, Universidad Autónoma of Madrid, Spain. Electronic address: - - 2014
We compared the performance of two clinical groups, Williams syndrome (WS) and Smith-Magenis syndrome (SMS), in terms of concrete and relational vocabulary. We analyzed (a) whether the WS group had an advantage in concrete vocabulary when compared to the SMS group, as good concrete vocabulary knowledge is considered a hallmark ...
Cherkaoui Jaouad Imane - - 2014
Juvenile hyaline fibromatosis and infantile systemic hyalinosis are variants of the same autosomal recessive syndrome; hyaline fibromatosis syndrome, characterized by papulonodular skin lesions, gingival hypertrophy, flexion contractures of joints, osteolytic bone lesions and stunted growth. Infantile systemic hyalinosis is distinguished from juvenile hyaline fibromatosis by its more severe phenotype, which ...
Wortmann Saskia B SB Nijmegen Centre for Mitochondrial Disorders (NCMD) at the Amalia Children's Hospital, Radboudumc, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands, - - 2014
Since the proposal to define a separate subgroup of inborn errors of metabolism involved in the biosynthesis and remodelling of phospholipids, sphingolipids and long chain fatty acids in 2013, this group is rapidly expanding. This review focuses on the disorders involved in the biosynthesis of phospholipids. Phospholipids are involved in ...
Gulati Reena R Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research, Pondicherry, India. Electronic address: - - 2014
Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) is an autosomal dominantly inherited congenital malformation of the eyelids. Diagnostic criteria include blepharophimosis, ptosis, epicanthus inversus and telecanthus. Type І BPES has additional features of premature ovarian failure and female infertility, while type ІІ occurs isolated. We report a two-year old male child ...
Glidden Laraine Masters - - 2014
Abstract A "Down syndrome advantage"-better outcomes for individuals with Down syndrome and their families than for those with other intellectual/developmental disabilities (IDD)-is reduced when variables confounded with diagnostic category are controlled. We compared maternal outcomes in a longitudinal sample of families rearing children with Down syndrome or other IDD, and ...
Abroug Fekri - - 2014
In 2013 in Tunisia, 3 persons in 1 family were infected with Middle East respiratory syndrome coronavirus (MERS-CoV). The index case-patient's respiratory tract samples were negative for MERS-CoV by reverse transcription PCR, but diagnosis was retrospectively confirmed by PCR of serum. Sequences clustered with those from Saudi Arabia and United ...
Furio Laetitia - - 2014
Abstract Netherton syndrome (NS) is an orphan genetic skin disease with a profound skin barrier defect and severe allergic manifestations. NS is caused by loss of function mutations in SPINK5 encoding lympho-epithelial Kazal-type inhibitor (LEKTI), a secreted multi-domain serine protease inhibitor expressed in stratified epithelia. Studies in mouse models and ...
Nault Marie-Lyne - - 2014
Os trigonum syndrome is the result of an overuse injury of the posterior ankle caused by repetitive plantar flexion stress. It is predominantly seen in ballet dancers and soccer players and is primarily a clinical diagnosis of exacerbated posterior ankle pain while dancing on pointe or demi-pointe or while doing ...
Rheault Michelle N MN Division of Pediatric Nephrology, University of Minnesota Children's Hospital, 2450 Riverside Avenue, MB680, Minneapolis, MN 55454, USA. Electronic address: - - 2014
Glomerular disorders in infancy can include nephrotic and nephritic syndromes. Congenital nephrotic syndrome (CNS) is most commonly caused by single gene mutations in kidney proteins, but may also be due to congenital infections or passive transfer of maternal antibodies that target kidney proteins. Prenatal findings of increased maternal serum α-fetoprotein ...
Beamer Laura Curr LC College of Health and Human Sciences, Northern Illinois University in - - 2014
Cowden syndrome (CS) is a genetic disorder characterized by multiple benign tissue growths (i.e., hamartomas) and an increased risk of developing specific cancers, such as breast, thyroid, kidney, endometrial, or colorectal cancer (Genetics Home Reference, 2012). This genetic syndrome was named after a person diagnosed with the disorder (Lloyd & ...
Hansen Keith A KA Dr. Hansen is from the Department of Obstetrics and Gynecology at the University of South Dakota, Sanford School of Medicine and Sanford Women's Health, Sioux Falls, South Dakota; e-mail: - - 2014
This month, we focus on current research in polycystic ovary syndrome. Dr. Hansen discusses six recent publications, and each is concluded with a "bottom line" that is the take-home message. The complete reference for each can be found in on this page, along with direct links to the abstracts.
Mihout Fabrice F Department of Nephrology and Dialysis, AP-HP, Tenon Hospital, Paris, - - 2014
Fanconi-Bickel syndrome is a rare autosomal-recessive disorder caused by mutations in the SLC2A2 gene coding for the glucose transporter protein 2 (GLUT2). Major manifestations include hepatomegaly, glucose intolerance, post-prandial hypoglycaemia and renal disease that usually presents as proximal tubular acidosis associated with proximal tubule dysfunction (renal Fanconi syndrome). We report ...
Demoulin Nathalie N Division of Nephrology, Cliniques universitaires Saint-Luc, Université catholique de Louvain, Brussels, - - 2014
We report on a 27-year-old patient presenting with chronic hypokalaemia, inappropriate kaliuresis, hypomagnesaemia and alkalosis, associated with moderate proteinuria. Genetic analysis evidenced a homozygous mutation (p.Arg399Cys) in the SLC12A3 gene coding for the sodium-chloride cotransporter (NCC), confirming the diagnosis of Gitelman syndrome. Further genetic testing did not show any mutation ...
Smigielski J - - 2014
Obejective: Reversible cerebral vasoconstriction syndrome (RCVS), an uncommon entity usually presenting as severe headache with or without neurological deficits, involves multifocal cerebral vasoconstriction, and may be associated with stroke. Multiple triggering etiologies are proposed, including ascent to high altitude. This case, triggered by high altitude, introduces a syndrome not as ...
Erhan H - - 2014
Cognitive functioning in Turner Syndrome has been characterized by strengths in verbal functioning, relative weaknesses in visuospatial functioning and in executive functioning, specific learning disorders and limitations in social cognition. Ongoing parental education about potential cognitive manifestations of Turner Syndrome would facilitate early educational intervention enabling better academic and occupational ...
Wagner M - - 2014
To present a case of posterior cortical atrophy (PCA) that was proven not to be Alzheimer disease (AD). PCA is rare and poorly understood but is a distinctive dementia syndrome thought to be caused by atypical Alzheimer disease (AD). The results presented suggest a unique yet to be defined neurodegenerative ...
Kagan Karl Oliver KO Department of Obstetrics and Gynaecology, University of Tuebingen, - - 2014
To examine the effectiveness of nasal bone (NB) evaluation, prenasal thickness (PT) measurements, the PT-NB ratio and the prefrontal space ratio (PFSR) in fetuses with trisomies 18 and 13, Triploidy, and Turner syndrome. Retrospective study utilizing stored midsagittal 2D images of profiles of fetuses with trisomies 18 and 13, Triploidy, ...
Repass Gregory L GL Department of Internal Medicine, Mayo Clinic, Jacksonville, - - 2014
Hand, foot, and mouth disease (HFMD) is a common, typically self-limited viral syndrome in children and adults. It is marked by fever, oral ulcers, and skin manifestations affecting the palms, soles, and buttocks, with symptoms usually lasting less than 1 week. Because it has the potential to reach epidemic levels ...
Klein Carolina A CA Dr. Klein is Associate Program Director, Forensic Psychiatry Fellowship, Georgetown University Hospital, Washington D.C., and Chief Medical Officer, The Maia Institute, Alexandria, VA. Dr. Hirachan is Forensic Psychiatry Fellow, Western Psychiatric Institute and Clinic, University of Pittsburgh Medical Center, Pittsburgh, PA. - - 2014
Delusional misidentification syndromes (DMSs) are complex psychotic phenomena that may be present in a variety of ways within the context of several neurological and psychiatric disorders. Since the first case of Capgras syndrome was described in 1923, various other syndromes have been identified, including Fregoli syndrome, intermetamorphosis, subjective doubles, reduplicative ...
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