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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 ...
Lee Y K YK Department of Ophthalmology, Yeouido St. Mary's Hospital, College of Medicine, The Catholic University of Korea, #62 Yeouido-dong, Yeoungdeungpo-gu, Seoul, 150-713, - - 2014
To evaluate the effectiveness of the ICare rebound tonometer in patients with overestimated intraocular pressure (IOP) due to tight orbit syndrome and to identify factors affecting the development of tight orbit syndrome in glaucoma patients. We investigated 84 eyes in 84 glaucoma patients, of which 14 eyes were classified in ...
Kosho Tomoki - - 2014
This issue of Seminars in Medical Genetics, American Journal of Medical Genetics Part C investigates the human diseases caused by mutations in the BAF complex (also known as the mammalian SWI/SNF complex) genes, particularly focusing on Coffin-Siris syndrome (CSS). CSS is a rare congenital malformation syndrome characterized by developmental delay ...
Campeau Philippe M - - 2014
DOORS syndrome (Deafness, Onychodystrophy, Osteodystrophy, mental Retardation, Seizures) is characterized mainly by sensorineural deafness, shortened terminal phalanges with small nails of hands and feet, intellectual deficiency, and seizures. Half of the patients with all clinical features have mutations in TBC1D24. We review here the manifestations of patients clinically diagnosed with ...
Haye Damien D Service de Génétique, Hôpital Bretonneau, Centre Hospitalier Universitaire, Tours, - - 2014
Carpenter syndrome is caused by mutations of the RAB23 gene. To date, 12 distinct mutations have been identified among 34 patients from 26 unrelated families. We report on the prenatal findings in a fetus with Carpenter syndrome with a novel RAB23 mutation. Cystic hygroma, bowed femora, abnormal skull shape and ...
Robertson Mary M - - 2014
Gilles de la Tourette syndrome and conduct disorder (CD) are both heterogeneous childhood onset conditions, and although patients with CD have been described in Gilles de la Tourette syndrome cohorts, little is known about the etiology of CD in Gilles de la Tourette syndrome or of the interrelationships. A cohort ...
Seidel Markus G MG Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology-Oncology, Medical University Graz, Graz, Austria - - 2014
Autoimmunity and immune dysregulation may lead to cytopenia and represent key features of many primary immunodeficiencies (PID). Especially when cytopenia is the initial symptom of PID, the order and depth of diagnostic steps have to be performed in accordance with both an immunologic and a hematologic approach and contain not ...
Yu Dongmei - - 2014
Obsessive-compulsive disorder (OCD) and Tourette's syndrome are highly heritable neurodevelopmental disorders that are thought to share genetic risk factors. However, the identification of definitive susceptibility genes for these etiologically complex disorders remains elusive. The authors report a combined genome-wide association study (GWAS) of Tourette's syndrome and OCD. The authors conducted ...
Spadari Francesco F Unit of Oral Pathology and Medicine, Department of Biomedical, Surgical and Dental Sciences, University of Milan, Ospedale Maggiore Policlinico IRCCS Ca'Granda Foundation, Milan, - - 2014
Burning mouth syndrome remains a puzzling condition. One symptom commonly associated with the burning sensation is xerostomia. The current study measured basal and stimulated salivary flow in a group of burning mouth syndrome patients. Three groups of patients were recruited: 44 burning mouth syndrome patients, 27 oral lichen planus patients ...
Ma Xiaojie - - 2014
ABSTRACT Objective: To conduct meta-analyses of all published association studies on the HTR2C -759C/T (rs3813829) polymorphism and olanzapine-induced weight gain in schizophrenia patients and on the HTR2C -759C/T, -697G/C (rs518147) and rs1414334:C>G polymorphisms and olanzapine/clozapine/risperidone-induced metabolic syndrome in schizophrenia patients. Methods: Eligible studies were identified by searching PubMed and Web ...
Manole Andreea A MRC Centre for Neuromuscular Diseases and Department of Molecular Neuroscience, Institute of Neurology, London, WC1N 3BG, - - 2014
With advances in next-generation gene sequencing, progress in deep phenotyping and a greater understanding of the pathogenesis of motor neuron disease, our knowledge of the progressive bulbar syndromes has significantly increased in recent years. This group of heterogeneous conditions, in which the primary disorder is focused around degeneration of the ...
Eysturoy Absalon Niclas AN Department of Paediatrics, Herlev Hospital, Herlev 2730, Denmark - - 2014
This study aimed to examine whether there are differences in tic severity, comorbidities, and psychosocial and educational consequences in children with Tourette syndrome and genetic predisposition to Tourette syndrome compared with children with Tourette syndrome without genetic predisposition to Tourette syndrome. A total of 314 children diagnosed with Tourette syndrome ...
Dzieweczynski Teresa L TL Department of psychology, University of New England, 11 Hills Beach Rd, Biddeford, ME 04005. Electronic address: - - 2014
The role of anthropogenic sources in generating, maintaining, and influencing behavioral syndromes has recently been identified as an important area of future research. Endocrine disrupting chemicals are prevalent and persistent in aquatic ecosystems worldwide. These chemicals are known to have marked effects on the morphology and behavior of exposed individuals ...
Song Hyunsuk H From the Department of Plastic and Reconstructive Surgery, Ajou University Hospital, Suwon, Republic of - - 2014
In syndromic craniosynostosis, such as Crouzon syndrome, midfacial hypoplasia can cause exophthalmos and concave facial profile. Though midfacial hypoplasia in Crouzon syndrome patients can be treated with midface advancement, known as a Le Fort II or Le Fort III osteotomy, such method can change nasal appearance and frequently fails to ...
Senanayake Manouri P - - 2014
Riga-Fede disease is a rare pediatric condition in which chronic lingual ulceration results from repetitive trauma. Neonatal teeth or underlying neuro-developmental disorders which include Down syndrome are described as causative factors, but to the best of our knowledge, this is the first case report of both Down syndrome and natal ...
Roberts Irene I Paediatrics and Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, - - 2014
Children with constitutional trisomy 21 (cT21, Down Syndrome, DS) are at a higher risk for both myeloid and B-lymphoid leukaemias. The myeloid leukaemias are often preceded by a transient neonatal pre-leukaemic syndrome, Transient Abnormal Myelopoiesis (TAM). TAM is caused by cooperation between cT21 and acquired somatic N-terminal truncating mutations in ...
Hantson P P Louvain Centre for Toxicology and Applied Pharmacology, Cliniques St-Luc, Université catholique de Louvain, Brussels, Belgium, - - 2014
Toxic leukoencephalopathy is a possible but rare complication of chronic cocaine abuse. The role of adulterants, mainly levamisole, is still debated. We describe an atypical case of fatal leukoencephalopathy mimicking Susac syndrome in a 22-year-old man who was chronically abusing cannabis and cocaine. Exposure to levamisole as adulterant to cocaine ...
Ma Guo-Ling GL Department of Endocrinology, Hangzhou Red-Cross Hospital, Hangzhou, 310003, - - 2014
To explore the Chinese medicine (CM) syndrome discipline in patients with antituberculosis drug (ATBD)-induced liver injury to provide the basis of the standard Chinese medicine treatment for the disease with latent variable analysis. Epidemiological investigation method was adopted. Two hundred and sixty-one patients with ATBD-induced liver injury were investigated using ...
Stetefeld Henning R HR Department of Neurology, University Hospital Cologne, Cologne, Germany. Electronic address: - - 2014
The association of a posterior reversible encephalopathy syndrome (PRES) without arterial hypertension with autoimmune-mediated inflammatory neuropathies such as Guillain-Barré syndrome (GBS) is a rare and poorly understood phenomenon. To date, PRES has been described as initial manifestation, coincidental finding, or adverse event subsequent to immunomodulatory treatment with intravenous immunoglobulin (IVIG) ...
Mutlu Gül Yesiltepe - - 2014
Abstract 46,XY complete gonadal dysgenesis (Swyer syndrome) is a rare cause of disorder of sexual development. This syndrome is caused by a defect in the determination of sex during embryogenesis and is characterised with female external genitalia, normal or rudimentary uterus, and streak gonads, despite the presence of the 46,XY ...
Deverdun Jérémy J Department of Neuroradiology, Montpellier University Hospital Center, Gui de Chauliac Hospital, Montpellier, France; Laboratoire Charles Coulomb, CNRS UMR 5221 - Université Montpellier II, Montpellier, France; I2FH, Institut d'Imagerie Fonctionnelle Humaine, Hôpital Gui de Chauliac, CHRU de, Montpellier, - - 2014
The etiologic diagnosis of parkinsonian syndromes is of particular importance when considering syndromes of vascular or degenerative origin. The purpose of this study is to find differences in the white-matter architecture between those two groups in elderly patients. Thirty-five patients were prospectively included (multiple-system atrophy, n=5; Parkinson's disease, n=15; progressive ...
Springett Anna L AL Centre for Environmental and Preventive Medicine, Wolfson Institute of Preventive Medicine, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, EC1M - - 2014
Pregnancies with Edwards or Patau syndrome are often detected through screening for Down's syndrome. We aimed to evaluate the impact of screening for Down's syndrome on the prevalence of live births and antenatal diagnoses of Edwards and Patau syndrome. England and Wales, 2005 to 2012. Data from the National Down ...
Sindgikar Seema Pavaman SP Department of Pediatrics, K. S. Hegde Medical Academy, Mangalore, Karnataka, - - 2014
PHACE is a neurocutaneous syndrome, an acronym to describe patients with facial segmental hemangiomas and other malformations. We describe a newborn antenatally diagnosed to have posterior fossa anomaly and subsequently as PHACE syndrome.
Dibaba D T DT Department of Epidemiology and Biostatistics, School of Public Health, Indiana University, Bloomington, IN, - - 2014
To estimate quantitatively the association between dietary magnesium intake and risk of metabolic syndrome by combining the relevant published articles using meta-analysis. MethodsWe reviewed the relevant literature in PubMed and EMBASE published up until August 2013 and obtained additional information through Google or a hand search of the references in ...
Yang J J JJ Department of Preventive Medicine, Seoul National University College of Medicine, Seoul; Institute of Environmental Medicine, Seoul National University Medical Research Centre, - - 2014
To examine whether adulthood and/or childhood sex-specific socio-economic disparities are associated with metabolic syndrome and its components in a developed non-Western setting. Based on the Fourth Korea National Health and Nutrition Examination Surveys, 14 888 people aged ≥ 20 years were analysed to evaluate the effect of adult and childhood ...
Kong Dezhao D The Affiliated Hospital of Liaoning University of Traditional Chinese Medicine, Liaoning 110032, - - 2014
A series of case-control studies have been conducted to investigate the association between blood lipid and phlegm turbidity syndrome of angina pectoris, but produced inconsistent results. We performed a meta-analysis to determine the association between blood lipid and phlegm turbidity syndrome of angina pectoris more precisely. Manual screening as well ...
Lin Wen-Ya WY Department of Pediatrics, Taichung Veterans General Hospital, Taichung, - - 2014
This large-scale study aims to analyze the association of systemic lupus erythematosus (SLE) with thyroid diseases. In this retrospective, nationwide cohort study, 1633 newly diagnosed SLE patients from the National Health Insurance Research Database in 2000 were examined and data on patients with diagnoses of hyperthyroidism, hypothyroidism, and autoimmune thyroiditis ...
Abril-Ulloa Victoria - - 2014
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. The Pubmed, SCOPUS ...
Hong Sunghyun - - 2014
The purpose of the current study was to investigate the association between cardiorespiratory fitness (CRF), measured by a simple step test, and the prevalence of metabolic syndrome among Korean adults, in a cross sectional design. A total of 1,007 Korean adults (488 men and 519 women) who underwent routine health ...
Giannikas Christina C Department of Ophthalmology, North Shore Long Island Jewish Health System, Great Neck, New York; Hofstra North Shore-LIJ School of Medicine, Hempstead, New York. Electronic address: - - 2014
Horner syndrome after tonsillectomy has been reported rarely in the literature. Furthermore, postoperative Horner syndrome lasting more than a 1 month is an even more rare occurrence. We present a persistent postoperative Horner syndrome in a 5-year-old child following tonsillectomy. Clinical diagnosis of Horner syndrome is confirmed pharmacologically, and damage ...
Kobayashi Satoru S Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai, Japan. Electronic address: - - 2014
Allan-Herndon-Dudley syndrome, an X-linked condition characterized by severe intellectual disability, dysarthria, athetoid movements, muscle hypoplasia, and spastic paraplegia, is associated with defects in the monocarboxylate transporter 8 gene (MCT8). The long-term prognosis of Allan-Herndon-Dudley syndrome remains uncertain. We describe the clinical features and course of four adults in a family ...
McRae Prudence J PJ Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia; School of Medicine, University of Queensland, Brisbane, Queensland, - - 2014
To document the incidence of geriatric syndromes (delirium, functional decline, falls, and pressure ulcers) in two surgical units and to determine the association between the occurrence of geriatric syndromes and admission type (elective vs nonelective), severity of surgery, and surgical subspecialty unit. Retrospective cohort study. One vascular surgical unit and ...
Leung Yinko Sylvie S L SS Department of Epidemiology, Biostatistics and Occupational Health, McGill University, Montreal, Quebec, Canada; Division of Clinical Epidemiology, Research Institute of McGill University Health Centre, Montreal, Quebec, - - 2014
Findings on the association between fish consumption and acute coronary syndrome are inconsistent. We assessed the role of fish consumption in acute coronary syndrome by conducting a dose-response meta-analysis. We conducted a literature search of Medline and Embase databases from 1966 to June 2013 for prospective cohort and case-control studies ...
Egbe Alexander A Division of Pediatric Cardiology, Mount Sinai Medical Center, New York, NY, - - 2014
There is a known association between congenital heart disease (CHD) and other congenital anomalies (CA). These associations have been altered by changes in prenatal factors in recent time. We reviewed the largest database of inpatient hospitalization information and analyzed the current association between common CHD diagnoses and other congenital anomalies. ...
Bar Amir A Department of Pediatrics, Drexel University College of Medicine, St. Christopher's Hospital for Children, Philadelphia, - - 2014
A twelve-year-old African-American female presented with two week history of progressively worsening headache and fatigue, and vision difficulties for the past week. The physical examination was normal. The neurological evaluation was normal, except for cranial nerves (CN) testing, which showed bilateral restriction of adduction (CN III) and up gaze (CN ...
Marquardt Tamara L TL Hand Research Laboratory, Department of Biomedical Engineering, Cleveland Clinic, 9500 Euclid Avenue, ND20, Cleveland, OH, 44195, - - 2014
Carpal tunnel syndrome is associated with sensory and motor impairments resulting from the compressed and malfunctioning median nerve. The thumb is critical to hand function, yet the pathokinematics of the thumb associated with carpal tunnel syndrome are not well understood. The purpose of this study was to evaluate thumb motion ...
Bruegl Amanda S AS 1Gynecologic Oncology & Reproductive Medicine, The U.T. M.D. Anderson Cancer - - 2014
Clinical criteria, primarily young age of cancer onset and family history of signature cancers, have been developed to identify individuals at elevated risk for Lynch Syndrome with the goals of early identification and cancer prevention. In 2007, the Society of Gynecologic Oncology (SGO) codified criteria for women presenting with gynecologic ...
Whitney Robyn R Division of Pediatric Neurology, Department of Pediatrics, McMaster Children's Hospital, McMaster University, Hamilton, Ontario, Canada. Electronic address: - - 2014
Rett syndrome is a severe neurodevelopmental disorder that primarily affects females. Classically the disorder is characterized by early normal development, followed by a period of regression and later recovery or stagnation. Typical features include a loss of purposeful hand skills, development of hand stereotypies, loss of spoken language, gait abnormalities, ...
Sellars Elizabeth A EA Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR. Electronic address: - - 2014
A newborn presented to genetics with complex skeletal abnormalities, joint contractures, and bilateral corneal clouding with sclerocornea. The patient survived for 8 months before succumbing to respiratory failure. Exome sequencing revealed a compound heterozygous mutation in theB3GALT6gene. Mutations in this gene have been associated with both Ehlers- Danlos syndrome, progeroid ...
Liu Alessandra M AM Neuro-ophthalmology Service, Children's Hospital of Philadelphia, Philadelphia, - - 2014
We investigated the distribution of symptoms and etiologies of patients with "Alice in Wonderland" syndrome (visual perception of change in one's body size) and "Alice in Wonderland"-like syndrome (extrapersonal illusions) at presentation and to determine their prognosis. Retrospective chart review and telephone interview. Charts of children diagnosed with "Alice in ...
Rodrigues Marcio Hipolito MH 1 Department of Gynecology and Obstetrics, Botucatu Medical School, Sao Paulo State University-UNESP , Sao Paulo, Brazil - - 2014
Abstract Background: The aim of this study was to assess clinical and inflammatory markers in nonalcoholic fatty liver disease (NAFLD) in postmenopausal women with metabolic syndrome. Methods: This cross-sectional study included 180 Brazilian women (age ≥45 years and amenorrhea ≥12 months). Metabolic syndrome was diagnosed by the presence of at ...
Dent B B Newcastle upon Tyne Hospitals NHS Foundation Trust, UK. - - 2014
Darrien JH, Kasem H Minimally invasive endoscopic therapy for the management of Boerhaave's syndrome. Ann R Coll Surg Engl 2013; 95: 552-556 doi 10.1308/003588413X13629960049315.
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