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Results 201 - 250 of 2419
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Ohnishi Hidenori - - 2011
The etiology of cryopyrin-associated periodic syndrome (CAPS) is caused by germline gene mutations in NOD-like receptor family, pryin domain containing 3 (NLRP3)/cold-induced autoinflammatory syndrome 1 (CIAS1). CAPS includes diseases with various severities. The aim of this study was to characterize patients according to the disease severity of CAPS. Five Japanese ...
Pavlidis Elena - - 2011
The epidermal nevus syndrome (ENS) is an uncommon neurocutaneous disorder in which epidermal nevi are found in association with congenital abnormalities of the brain, eye, and/or skeleton. The association of epidermal nevi and neurologic abnormalities was comprehensively described by Schimmelpenning in 1957. Pavone et al. (1991) identified a homogeneous variant of ...
Santamaria A - - 2011
Objective To evaluate the 12-month effect of myo-inositol treatment on some biochemical parameters of women affected by metabolic syndrome. Methods Eighty outpatient postmenopausal women, affected by metabolic syndrome, were enrolled in a 12-month study. All women were treated with a low-energy diet, and then they were randomly assigned to myo-inositol ...
Chang Ta C - - 2011
Axenfeld-Rieger syndrome is a genetic disease affecting multiple organ systems. In the eye, this condition manifests with varying degrees of anterior segment dysgenesis and carries a high risk of glaucoma. Other associated systemic issues include cardiovascular outflow tract malformations, craniofacial abnormalities and pituitary abnormalities, which can result in severe endocrinological ...
Alberts Bruce - - 2011
Science is fully retracting the report "Detection of an infectious retrovirus, XMRV, in blood cells of patients with chronic fatigue syndrome" (V. C. Lombardi et al., Science 326, 585 (2009); 10.1126/science.1179052)
Jelušić Marija - - 2011
This article presents a case of a 17-year-old girl with primary antiphospholipid syndrome developing subacute signs of hand and leg ischaemia caused by radiologically verified radial and popliteal artery occlusion. She is successfully treated with a thrombolytic agent (alteplase) and recovers completely. Her laboratory results came positive for all three ...
Sousa Alexandra - - 2011
Postural tachycardia syndrome (POTS) refers to the presence of orthostatic intolerance symptoms with a heart rate increment ≥30 bpm, usually up to ≥120 bpm. Pathophysiology and POTS's clinical presentation are heterogeneous and its prognosis is uncertain. We reviewed the major clinical characteristics of POTS patients and assessed their long-term follow-up. Our series ...
Cunha Burke A - - 2011
Legionnaire's disease is a cause of community-acquired pneumonia (CAP) in normal hosts, but those with impaired cell-mediated immunity (CMI) and T-lymphocyte function are particularly predisposed to Legionella species CAP. Myelodysplastic syndrome (MDS) is a disorder of the elderly that is associated with impaired CMI. Cases of MDS or Legionella species ...
McCairn Kevin W - - 2011
High-frequency deep brain stimulation targeting the output nucleus of the basal ganglia, the globus pallidus internus, has been suggested as a treatment modality for intractable Tourette syndrome and basal-ganglia-mediated motor tics. Recent studies on the modeling of motor tics induced by focal injections of bicuculline to the striatum, a putative ...
Manara R - - 2011
BACKGROUND AND PURPOSE:Hunter syndrome (MPS type II) is a rare X-linked recessive disease caused by lysosomal enzyme iduronate-2-sulfatase deficiency, characterized by frequent and variable brain and skull involvement. Our objective was determine the frequency of closed cephaloceles in a large cohort of subjects affected with Hunter syndrome and to investigate ...
Suzuki Manabu - - 2011
BACKGROUND: Boerhaave syndrome is a rare and often fatal syndrome. Delayed diagnosis and treatment is closely associated with prolonged morbidity and increased mortality. In general, esophagography is usually chosen as the diagnostic procedure, but it has a relatively high false-negative rate. There are no reports, to our knowledge, regarding the ...
Morice Alyn H - - 2011
The major etiologies of chronic cough are generally accepted to consist of upper airway cough syndrome (formerly postnasal drip syndrome), eosinophilic airway inflammation (asthma, nonasthmatic eosinophilic bronchitis), and gastroesophageal reflux disease (GERD). However, only a small percentage of patients with these very common conditions suffers from chronic cough. Furthermore, acute ...
Mulero Juana - - 2011
BACKGROUND & AIMS: Inflammation and oxidative stress plays a critical role in cardiovascular disease and metabolic syndrome often occurs with these two variables. The aim of the study is to estimate variations on cardiovascular risk factors in Metabolic Syndrome patients after consume of a citrus-based juice compared with control groups. ...
Mitchell Karen K Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, - - 2012
Pterygium syndromes are complex congenital disorders that encompass several distinct clinical conditions characterized by multiple skin webs affecting the flexural surfaces often accompanied by craniofacial anomalies. In severe forms, such as in the autosomal-recessive Bartsocas-Papas syndrome, early lethality is common, complicating the identification of causative mutations. Using exome sequencing in ...
Tolun Adviye A - - 2011
Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is a lysosomal storage disease caused by deficiency of iduronate-2-sulfatase (IDS). A convenient single-step fluorometric microplate enzyme assay has been developed and validated for clinical diagnosis of MPS II using dried blood spots (DBS). The assay compared well with a recently reported ...
Halbach Nicky S J - - 2011
Rett syndrome (RTT; OMIM 312750) is an X-linked dominant neurodevelopmental disorder leading to cognitive and motor impairment, epilepsy, and autonomic dysfunction in females. Since the discovery that RTT is caused by mutations in MECP2, large retrospective genotype-phenotype correlation studies have been performed. A number of general genotype-phenotype relationships were confirmed ...
Alciati Alessandra - - 2011
The increasing global trend of obesity is a fundamental contributor to the growing prevalence of metabolic syndrome, a cluster of medical abnormalities including impaired glucose and lipid metabolism, obesity and hypertension. Results from animal and human investigations have shown that early life stress can result in weight gain and metabolic ...
Michl R K - - 2011
Infections with Pseudomonas aeruginosa can cause the hot-foot syndrome, presenting with painful plantar erythematous nodules. Particularly, the mechanically stressed areas of the foot are affected after contact with contaminated water from saunas, swimming pools, hot tubs, etc. We report an outbreak of hot-foot syndrome caused by Pseudomonas in 10 patients. ...
Alvarez Soria M J - - 2011
INTRODUCTION: The need for safe health care, in which the care and treatment of the patient does not cause any more injury to those already arising from their baseline disease, has led to the present study. Our objective has been to determine the frequency and to describe the neurological syndromes ...
Willhauck M J - - 2011
Ectopic ACTH-syndrome is a rare cause of Cushing's disease. Despite extensive diagnostic procedures the source of ACTH secretion often remains occult.This case describes a 45-year old woman with an ectopic Cushing's syndrome. Extensive imaging procedures including CT scan of chest and abdomen, octreotide scan and MRI of the chest and ...
Hippman Catriona - - 2012
Genetic counselors and parents of individuals with Down syndrome (DS) agree that descriptions of DS in prenatal settings should be "balanced." However, there is no consensus regarding what constitutes a balanced description of DS. A survey was designed in collaboration with, and sent to the membership of, the British Columbia ...
Dunaif Andrea A Division of Endocrinology, Metabolism and Molecular Medicine, Northwestern University Feinberg School of Medicine, 303 East Chicago Avenue, Tarry 15-745, Chicago, IL 60611, USA. - - 2012
Polycystic ovary syndrome (PCOS) is a complex genetic disease that affects approximately 7% of women of reproductive age worldwide. From novel pathways implicated in the etiology of PCOS through genome-wide association to characterization of the reproductive and metabolic changes that occur in ageing women with PCOS, the year 2011 has ...
Tsangaris Iraklis - - 2011
We report a case of severe ovarian hyperstimulation syndrome (OHSS) complicated by community-acquired methicillin-resistant Staphylococcus aureus-Panton-Valentine leukocidin positive (CAMRSA-PVL[+]) necrotizing pneumonia, sepsis and multiple organ failure (MOF) in a previously immunocompetent female. The patient required prolonged ventilatory support and intensive care unit (ICU) hospitalization. Multiple cavities and severely affected lung ...
Juárez-Meavepeña Minerva - - 2011
Abstract Background: Low cholesterol and phospholipid plasma levels of some high-density lipoprotein (HDL) subclasses have been described in children with metabolic syndrome. Scavenger receptor class B type I (SR-BI) has been proposed to be at the origin of such HDL alterations because of its key role on cholesteryl esters-HDL metabolism. ...
Goudsmit Ellen M - - 2011
Purpose: Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is a debilitating condition characterized by a number of symptoms which typically worsen following minimal exertion. Various strategies to manage the limited energy levels have been proposed. Of these, pacing has been consistently rated as one of the most helpful in surveys conducted by ...
Else Tobias T Metabolism, Endocrinology and Diabetes, Department of Internal Medicine, University of Michigan Health System, Ann Arbor, MI, USA. - - 2012
Our knowledge about inherited susceptibility to adrenocortical carcinoma (ACC) almost exclusively stems from experiences with familial cancer susceptibility syndromes, which are caused by single gene mutations (e.g. Li-Fraumeni syndrome (LFS)). Population-based studies are largely unavailable. ACC diagnosed during childhood is known to be commonly part of hereditary cancer syndromes. Childhood ...
Lykoudis Efstathios G - - 2011
Extracranial involvement of the recurrent laryngeal and hypoglossal nerves, also known as Tapia's syndrome, is a rare complication of airway management under general anesthesia. We report such a case after an otherwise uncomplicated rhinoplasty. After reviewing the other nine reported cases of Tapia's syndrome, we found that half of the ...
Kucharz Eugene Joseph - - 2011
Incidence of cardiovascular disease in patients with chronic autoimmune disorder like rheumatoid arthritis is much higher than in general population. Cardiovascular events (e.g. myocardial infarction or stroke) are caused by premature accelerated development of atherosclerosis. Chronic inflammation-enhanced atherosclerosis syndrome is proposed as a separate syndrome occurring in patients suffering of ...
McIntyre William F - - 2011
The Brugada type 1 electrocardiographic (ECG) pattern and the early repolarization pattern (ERP) are 2 ECG patterns characterized by the appearance of J waves. Although Brugada type 1 ECG pattern in the context of the Brugada syndrome (BrS) is well known for predisposing to life-threatening ventricular arrhythmias, it has only ...
Rickards Hugh - - 2012
National differences in licensing laws suggest that the use of medications for the treatment of Tourette syndrome differs between European countries. However, variability in prescribing practices has never been investigated. This study aims to systematically examine European prescribing practices in Tourette syndrome. All members of the European Society for the ...
Selmi Carlo - - 2012
Primary biliary cirrhosis (PBC) has been often coined a model autoimmune disease based on the homogeneity amongst patients, the frequency and similarity of antimitochondrial antibodies, including the highly directed immune response to pyruvate dehydrogenase (PDC-E2). A significant number of patients with PBC suffer from sicca and amongst these, there are ...
Gulhan Ercan-Sencicek A A Program on Neurogenetics, Yale University School of Medicine, - - 2012
Potocki-Lupski syndrome (PTLS; OMIM 610883) is a genomic syndrome that arises as a result of a duplication of 17p11.2. Although numerous cases of individuals with PTLS have been presented in the literature, its behavioral characterization is still ambiguous. We present a male child with a de novo dup(17)(p11.2p11.2) and he ...
Ladha S - - 2011
References: 1. Talkowski ME, Mullegama SV, Rosenfeld JA et al. Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder. American Journal of Human Genetics 2011: 89, 551-563. 2. van Bon BW, Koolen DA, Brueton L et al. The 2q23.1 ...
Calleja Gero M L - - 2011
INTRODUCTION: Mucopolysaccharidoses (MPS) are a group of inherited disorders due to lysosomal enzyme deficiencies. The aims of this study are to describe the neuroimaging findings in children evaluated in our hospital with this diagnosis, looking for a possible correlation of these alterations with the type of MPS and clinical severity, ...
Beh Shin C - - 2011
We present a 69year-old man with hypertension who developed the sudden onset of horizontal binocular diplopia and stuttering of speech. On examination, bilateral exotropia (i.e. 'wall-eyed') was observed in the primary position. Attempted horizontal saccades revealed bilateral internuclear ophthalmoplegia; all consistent with the wall-eyed bilateral internuclear ophthalmoplegia (WEBINO) syndrome. Convergence, ...
Jordan Hannah T - - 2012
The objective of this study was to describe the prevalence of and factors associated with metabolic syndrome among adult New York City residents. The 2004 New York City Health and Nutrition Examination Survey was a population-based, cross-sectional study of noninstitutionalized New York City residents aged 20 years or older. We ...
Sharma Surendra K - - 2011
Obstructive sleep apnea is associated with an increased prevalence of the metabolic syndrome and its components. It is unclear whether treatment of obstructive sleep apnea syndrome with continuous positive airway pressure (CPAP) would modify these outcomes. In our double-blind, placebo-controlled trial, we randomly assigned patients with obstructive sleep apnea syndrome ...
Kim Kirang - - 2011
BACKGROUND: Gene-nutrient interactions may be important in modulating susceptibility to metabolic disorders. OBJECTIVES: The objectives of this study were to assess the association of dietary calcium intake with the risk of metabolic syndrome and to investigate the interaction effects between dietary calcium intake and candidate gene polymorphisms. DESIGN: Subjects were ...
Antiga E - - 2011
To date, 71 patients having the so-called 'Rowell's syndrome' (RS) have been reported in the literature. However, most of them did not show all the clinical and serological features first described by Rowell and co-workers in 1963. Moreover, since then, subacute cutaneous lupus erythematosus (SCLE) has been identified and the ...
Wu Xiao-Yan - - 2011
OBJECTIVES: The prevalence of overweight and obesity continue to increase among children and adolescents worldwide. This study examined whether waist circumference (WC), waist-to-hip ratio (WHpR) and waist-to-height ratio (WHtR) are predictive of metabolic syndrome and elevated serum alanine aminotransferase (ALT) among adolescents and young adults in mainland China. STUDY DESIGN: ...
Mercer John R JR Division of Cardiovascular Medicine, University of Cambridge, Addenbrooke's Hospital, Cambridge, - - 2012
A number of recent studies suggest that mitochondrial oxidative damage may be associated with atherosclerosis and the metabolic syndrome. However, much of the evidence linking mitochondrial oxidative damage and excess reactive oxygen species (ROS) with these pathologies is circumstantial. Consequently the importance of mitochondrial ROS in the etiology of these ...
Bauters Tiene - - 2011
Red man syndrome is a rare but possibly serious adverse reaction during treatment with intravenous vancomycin. It is extremely important that pediatricians, especially in oncology, recognize this reaction and treat it appropriately. Following two case-reports from a pediatric oncology setting, a series of practical recommendations to prevent or handle red ...
Sullivan Julie M - - 2012
Exposure of the gastrointestinal (GI) tract to high doses of radiation can lead to lethality from the GI syndrome. Although the molecular mechanism regulating the GI syndrome remains to be fully defined, we have recently demonstrated that p53 within the GI epithelial cells controls the radiation-induced GI syndrome. Mice lacking ...
Safi Khalid H - - 2011
ABSTRACT: A 7-year-old girl with 18q deletion syndrome developed chronic progressive polyarticular inflammatory arthropathy. Atypical features of her arthritis included lack of morning stiffness, absence of pain and discomfort, normal acute-phase reactants, and the presence of clinodactyly, low-set thumbs, metatarsus adductus of her feet, and overriding nontender swollen toes. She ...
Wang Jie - - 2012
Hypertension is a clinical common disease, with high mortality and disability. Although there have also been significant advances in therapeutic concepts and measures, it has shown a certain value and significance in the treatment of Chinese medicine. The control strategy on hypertension is described from the following aspects such as ...
Deka R - - 2012
Background: Metabolic syndrome, a constellation of risk factors associated with cardiovascular disease and Type 2 diabetes, has reached epidemic proportions worldwide. Epidemiological studies in transitional societies will provide insight into the underlying factors that interact in its manifestation. Aims: To estimate the prevalence of metabolic syndrome, provide a comparative analysis ...
Demidowich Andrew P - - 2012
To describe the genotypes, phenotypes, immunophenotypes, and treatments of PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, and acne), a rare autoinflammatory disease, in 5 patients. Clinical information was gathered from medical records and through interviews with 5 patients from 4 kindreds. PSTPIP1 (CD2BP1) exon 10 and exon 11 sequencing was ...
Le Goff Carine - - 2012
Myhre syndrome (MIM 139210) is a developmental disorder characterized by short stature, short hands and feet, facial dysmorphism, muscular hypertrophy, deafness and cognitive delay. Using exome sequencing of individuals with Myhre syndrome, we identified SMAD4 as a candidate gene that contributes to this syndrome on the basis of its pivotal ...
Hall Deborah - - 2011
BACKGROUND: Carriers of fragile X mental retardation 1 (FMR1) repeat expansions in the premutation range (55-200 CGG repeats) often develop a syndrome of kinetic tremor, cerebellar ataxia, and parkinsonism; designated the fragile X-associated tremor ataxia syndrome (FXTAS). Neurological signs have not been reported in carriers of gray zone (45-54 CGG ...
Cherng Eric - - 2011
  Wells' syndrome, otherwise known as eosinophilic cellulitis, is a rare dermatosis seen more commonly in adults than in children. In this article, we present a 5-year-old Caucasian boy who initially presented with pruritic, erythematous macules and papules evolving to bullae formation. Subsequent histology confirmed diagnosis of Wells' syndrome, and ...
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