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Diamanti-Kandarakis Evanthia - - 2012
Polycystic ovary syndrome (PCOS) is a complex syndrome of unclear etiopathogenesis characterized by heterogeneity in phenotypic manifestations. The clinical phenotype of PCOS includes reproductive and hormonal aberrations, namely anovulation and hyperandrogenism, which coexist with metabolic disturbances. Reflecting the crosstalk between the reproductive system and metabolic tissues, obesity not only deteriorates ...
Quinn Malgorzata E - - 2012
Limb anomalies are important birth defects that are incompletely understood genetically and mechanistically. GLI3, a mediator of hedgehog signaling, is a genetic cause of limb malformations including pre- and postaxial polydactyly, Pallister-Hall syndrome and Greig cephalopolysyndactyly. A closely related Gli (glioma-associated oncogene homolog)-superfamily member, ZIC3, causes X-linked heterotaxy syndrome in ...
Banaszak Beata - - 2012
Recently, a number of reports have highlighted changes in the histopathology and response to corticosteroid treatment in childhood nephrotic syndrome; however, these involved ethnically mixed populations. For comparison, the purpose of our research was to search for changes in the characteristics of nephrotic syndrome in a homogeneous population of Caucasian ...
Phadke Meghana M Department of Pediatrics, Lilavati Hospital and Research Center, Mumbai, - - 2012
Kearns-Sayre Syndrome is form of rare mitochondrial cytopathy, first described by Thomas P. Kearns and George Pomeroy Sayre in 1958 and is characterized by progressive external opthalmoplegia, cardiac conduction block, pigmentary retinal degeneration, variable number of red ragged fibers on muscle biopsy. It presents before the child reaches the age ...
Mugele Josh - - 2012
Serotonin syndrome is associated with use of certain street drugs, including methamphetamine, cocaine, and ecstasy. We describe a case of a woman who developed clinical findings consistent with serotonin syndrome after insufflation of 3,4-methylenedioxypyrovalerone (MDPV), a synthetic amphetamine. MDPV belongs to a group of substances called phenylethylamines, which are β-ketone ...
Carvajal Fernando - - 2012
The processing of facial expressions of emotions by 23 adults with Down syndrome and moderate intellectual disability was compared with that of adults with intellectual disability of other etiologies (24 matched in cognitive level and 26 with mild intellectual disability). Each participant performed 4 tasks of the Florida Affect Battery ...
Arnold A W - - 2012
Background:  There is confusion in the literature concerning disorders caused by EBP (emopamil- binding protein) mutations in males. Objective:  To study the clinical and genetic differences in males affected either with Conradi-Hünermann-Happle syndrome (X-linked dominant chondrodysplasia punctata, CDPX2) or with a nonmosaic, X-linked recessive disorder for which we propose the ...
Sofou Kalliopi - - 2012
BACKGROUND: Alpers syndrome is one of the most common phenotypes of mitochondrial disorders in early childhood and has been associated with pathogenic mutations in POLG1. AIMS: To investigate the phenotypic-genotypic correlations in Alpers syndrome and to identify potential differences among patients with Alpers syndrome with or without pathogenic POLG1 mutations. ...
Tarcin Ozlem - - 2012
Abstract Background: Obesity and metabolic syndrome are major health problems worldwide, including Turkey. Recent studies have shown an association between thyroid function tests and metabolic syndrome parameters. In this study, we aimed to determine the frequency of metabolic syndrome in an obese Turkish population and the relationship between metabolic syndrome ...
van de Steeg Evita - - 2012
Bilirubin, a breakdown product of heme, is normally glucuronidated and excreted by the liver into bile. Failure of this system can lead to a buildup of conjugated bilirubin in the blood, resulting in jaundice. The mechanistic basis of bilirubin excretion and hyperbilirubinemia syndromes is largely understood, but that of Rotor ...
Abdalla Ebtesam Mohamed EM Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt. - - 2012
To report the presence of Axenfeld-Rieger spectrum in a case of 45,X Turner syndrome. Non-interventional case report. A 13-year-old girl underwent complete genetic clinical evaluation comprising detailed family history taking with pedigree construction in addition to a thorough clinical examination and a number of investigations. A cytogenetic study, molecular testing ...
Kover Sara T ST Waisman Center, University of Wisconsin-Madison, Wisconsin, USA. - - 2012
In this study, the authors examined the impact of sampling context on multiple aspects of expressive language in male participants with fragile X syndrome in comparison to male participants with Down syndrome or typical development. Participants with fragile X syndrome ( n = 27), ages 10-17 years, were matched groupwise ...
Lehnhardt Anja - - 2012
Pierson syndrome, caused by mutations in the LAMB2 gene, was originally described as a combination of microcoria and congenital nephrotic syndrome, rapidly progressing to end-stage renal failure. We report a minor variant of Pierson syndrome in a teenage girl with severe myopia since early infancy and proteinuria first detected at ...
Coon Brian G - - 2012
Lowe syndrome is a devastating, X-linked genetic disease characterized by the presence of congenital cataracts, profound learning disabilities and renal dysfunction. Unfortunately, children affected with Lowe Syndrome often die early of health complications including renal failure. Although this syndrome was first described in the early 1950s and the affected gene, ...
Mirzaa Ghayda M - - 2012
The macrocephaly-capillary malformation syndrome (M-CM), which we here propose to rename the megalencephaly-capillary malformation syndrome (MCAP; alternatively the megalencephaly-capillary malformation-polymicrogyria syndrome), and the more recently described megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH) are two megalencephaly (MEG) disorders that involve a unique constellation of physical and neuroimaging anomalies. We compare the features in 42 ...
Putnam Kelly K Graduate Center for Nutritional Sciences, University of Kentucky, Lexington, 40536-0200, - - 2012
The renin-angiotensin system (RAS) is an important therapeutic target in the treatment of hypertension. Obesity has emerged as a primary contributor to essential hypertension in the United States and clusters with other metabolic disorders (hyperglycemia, hypertension, high triglycerides, low HDL cholesterol) defined within the metabolic syndrome. In addition to hypertension, ...
Canzonetta Claudia - - 2012
Children with Down syndrome have a 20- to 50-fold increased risk of acute lymphocytic or myeloid leukaemia. Whole or partial gains of chromosome 21 have been described in multiple childhood leukaemias, and have recently been reported as a likely primary event in B-precursor-acute lymphoblastic leukaemia. It is unclear which amplified ...
Eker Hasan Hüsey In - - 2012
This study aims to assess the frequency and factors relevant to metabolic syndrome in workers employed in the collection and disposal of solid waste sector. This cross-sectional study was conducted in the major solid waste collecting and disposal company named İSTAÇ AŞ (İstanbul Environmental Protection and Waste Processing Corporation) in ...
Curtis Ashley R - - 2012
Trigeminal trophic syndrome (TTS) is the historic name for neuropathic self-induced facial ulceration from abnormal sensory symptoms leading to uncontrolled scratching. Anatomic co-localization of sensory loss (numbness) plus neuropathic itch and pain permits painless scratching. If the itch is severe, some patients will scratch to the point of causing self-injury. ...
Appenzeller Simone - - 2012
Although antiphospholipid syndrome (APS) is a multisystem prothrombotic condition, its inflammatory nature has been increasingly recognized in recent years. Stroke and transitory ischemic attacks are the neurological manifestations included in APS criteria, however many other neurological involvements have been attributed to antiphospholipid antibodies (aPL), such as seizures, transverse myelitis, and ...
Uzel André-Pierre - - 2012
We report a case of anterior thigh compartment syndrome, which occurred after man's thigh was bruised after flipping repeatedly over his bike and being hit by the frame of the bike nearly at around 6 pm. The next day at 1:30 am, he was admitted to the hospital. The initial ...
Kavanagh David - - 2012
Atypical hemolytic uremic syndrome is a disease associated with mutations in the genes encoding the complement regulators factors H and I. In addition, factor H autoantibodies have been reported in ∼10% of patients with atypical hemolytic uremic syndrome. This study searched for the presence of factor I autoantibodies in atypical ...
Gallant A R - - 2012
The rising prevalence of obesity is a global concern. Eating behaviour and circadian rhythm are proving to be important factors in the aetiology of obesity. The night-eating syndrome (NES) is characterized by increased late-night eating, insomnia, a depressed mood and distress. It is evident that prevalence is higher among weight-related ...
Svingen T - - 2012
Kallmann syndrome is a form of hypogonadotropic hypogonadism also associated with the loss of smell. It is a phenotypically and genetically heterogeneous disorder, with mutations in several known causative genes now accounting for approximately 30% of cases. The prevalence for the disease is also much higher in males than in ...
Garcia-Velasco Juan A - - 2012
Agonist triggering combined with oocyte vitrification and ET in a subsequent natural cycle avoids ovarian hyperstimulation syndrome in patients at risk and shows excellent cycle outcome.
Valika Ali A - - 2012
Heart failure syndromes are often associated with multi-organ dysfunction, and concomitant liver, renal, and neurologic involvement is very common. Neuro-hormonal antagonism plays a key role in the management of this syndrome, and angiotensin-converting enzyme inhibitors and angiotensin receptor blockers are one of the cornerstones of therapy. Cardiorenal physiology is becoming ...
Yılmaz Hakkı - - 2012
We report a 53-year-old Turkish female presented with progressive weakness and mild dyspnea. Laboratory results demonstrated severe hypokalemia with hyperchloremic metabolic acidosis. The urinary anion gap was positive in the presence of acidemia, thus she was diagnosed with hypokalemic paralysis from a severe distal renal tubular acidosis (RTA). Immunologic work-up ...
Khocht A A Department of Periodontology and Oral Implantology, Temple University School of Dentistry, Philadelphia, PA 19140, USA. - - 2012
The subgingival microbiota in Down syndrome and non-Down syndrome adults receiving periodic dental care was examined for 40 bacterial species using checkerboard DNA-DNA hybridization and the results were related to clinical periodontal attachment loss. A total of 44 Down syndrome, 66 non-Down syndrome mentally retarded and 83 mentally normal adults ...
Spatola Marianna - - 2012
Primary monogenic forms of dystonia manifest solely or mainly with dystonia; they have been linked to a number of genes and loci and assigned "DYT" numbers. The pure dystonia syndrome early-onset primary dystonia (DYT1) manifests with dominantly-inherited generalized dystonia, often with focal onset in a limb. DYT1 is caused by ...
Vaklavas Christos - - 2012
Advances in cancer genomics have led to the recognition of a growing number of high-penetrance single-gene cancer predisposition syndromes. Frequently, the suspicion for a hereditary syndrome is raised by a strongly positive family history. However, other features, such as younger-than-usual age at diagnosis and rare histology should also prompt consideration ...
Jagger Daniel J - - 2012
The increased availability of mouse models of human genetic ciliary diseases has led to advances in our understanding of the diverse cellular roles played by cilia. The family of so-called "ciliopathies" includes Alström Syndrome, Bardet-Biedl Syndrome, Primary Ciliary Dyskinesia, and Polycystic Kidney Disease, among many others. In mouse models of ...
Pikula Jiri - - 2012
White-nose syndrome, associated with the fungal skin infection geomycosis, caused regional population collapse in bats in North America. Our results, based on histopathology, show the presence of white-nose syndrome in Europe. Dermatohistopathology on two bats (Myotis myotis) found dead in March 2010 with geomycosis in the Czech Republic had characteristics ...
Glamore Michael - - 2012
"Broken heart" syndrome is a rare phenomenon characterized by transient ballooning of the left ventricle and chronic heart failure, usually presenting in postmenopausal women. It is formally known as acute stress-induced cardiomyopathy and, although described in the cardiology literature, it has not been previously described in plastic surgery patients. It ...
Israeli E - - 2012
Gulf War syndrome (GWS) is a multi-symptom condition comprising a variety of signs and symptoms described in the literature, which not been fully resolved. The various symptoms of the condition include muscle fatigue and tiredness, malaise, myalgia, impaired cognition, ataxia, diarrhoea, bladder dysfunction, sweating disturbances, headaches, fever, arthralgia, skin rashes, ...
De Michele Giuseppe - - 2012
The label of "early-onset cerebellar ataxia with retained tendon reflexes" (EOCA) has been created to differentiate it from Friedreich ataxia (FRDA) patients with preserved knee jerks and absence of cardiomyopathy, optic atrophy, and diabetes mellitus. However, EOCA is a heterogeneous syndrome and several FRDA patients present with an EOCA-like phenotype. ...
Karimi Mehran - - 2012
Nicolau Syndrome (NS) is a rare but severe localized adverse reaction at the site of intramuscular drug injection. The typical presentation is intense pain around the injection site soon after injection, followed by erythema, purplish network discolouration of the skin, haemorrhagic patch, and finally tissue necrosis. Here in, we report ...
Fujii Kenji - - 2012
We present a case of Churg-Strauss syndrome complicated by chronic periaortitis. A 68-year-old man presented with wheezing, dyspnea, purpurae, and numbness of the extremities. Antineutrophil cytoplasmic antibodies were absent; however, eosinophilia, a pulmonary infiltrative shadow on chest X-ray, eosinophilic vasculitis on histologic examination of skin and kidney, and mononeuritis multiplex ...
Murer M - - 2012
STUDY/PRINCIPLES: Physical activity improves the clinical course of the metabolic syndrome and its risk factors. The aim of this study was to investigate the physical activity behaviour in patients with metabolic syndrome in regard to the recommendation of the Federal Offices of Public Health (BAG) and Sports ( 47 patients ...
Brown W Ted - - 2012
Fragile X syndrome patients express a wide array of cognitive and other gender-specific phenotypic features. These manifestations result not only from molecular mechanisms that are altered as a result of the expansion of a CGG-repeat region in the FMR1 promoter, but also genetic factors such as founder effects and mosaicism. ...
Mojallal Ali - - 2012
Poland syndrome is a rare congenital malformation. Hypoplasia of the sternocostal portion of the pectoralis major muscle is the most significant feature and is most frequently associated with homolateral breast hypoplasia. In this article, the authors present a case of bilateral phyllodes tumors in a 28-year-old woman with Poland syndrome ...
Cocieru Andrei - - 2012
Paragangliomas are rare neuroendocrine tumors arising from the neural crest cells in the extra-adrenal location. Paragangliomas can be sporadic or associated with a range of endocrine and genetic syndromes in 25% to 30% of all cases. Specifically, succinate dehydrogenase gene mutations are involved in the development of paraganglioma syndromes type ...
Pithon Matheus Melo - - 2012
This purpose of this article was to report the clinical case of a patient with Eagle's syndrome. She was referred to the orthodontic clinic by her general clinician, with the complaint of temporomandibular dysfunction. The orthodontic records showed a styloid process elongation accompanied by calcification and fracture on the right ...
Gunashekhar Madiraju - - 2012
Rubinstein-Taybi syndrome, or broad thumb-hallux syndrome, is a well-defined rare congenital disorder characterised by postnatal growth deficiency, craniofacial dysmorphism, broad thumbs and great toes, and mental retardation (intellectual disability). Occurrence may be either sporadic or through autosomal dominant inheritance. Reports of Rubinstein-Taybi syndrome are scarce in the literature. This case ...
Awad Atif B - - 2012
The metabolic syndrome develops in an individual with any three of the following risk factors: obesity, diabetes, inflammation, hypertension, dyslipidemia, and thrombosis. Recent evidence suggests that vitamin D may play a role in the development of some of these risk factors. The metabolic syndrome is more common in western societies ...
Kacem Imen - - 2012
The clinical syndrome of pure akinesia (PA) is considered the third phenotype of progressive supranuclear palsy (PSP), and is characterized by freezing of gait and prominent speech disturbance without rigidity or tremor. It is frequently considered one of the dopamine resistant motor syndromes, and its pathophysiology remains unclear. We report ...
Seifarth Federico G - - 2012
Poland syndrome is characterized by hypoplastic unilateral chest wall structures. These chest wall deformities may be associated with upper extremity anomalies. The association of Poland syndrome with either intercostal liver herniation or a spinocerebral deformity has been described, but there is no report of both findings encountered simultaneously. This is ...
Tacik Pawel - - 2012
Crossed brainstem syndromes consist of ipsilateral impairment of cranial nerves III-XII and contralateral impairment of the pyramidal and sensory tracts. Gasperini's syndrome, described in 1912 by the Italian internist Ubaldo Gasperini, is one of them. It results from a lesion of the caudal pontine tegmentum and is most frequently defined ...
Hunsaker Michael R - - 2012
The use of mutant mouse models of neurodevelopmental and neurodegenerative disease is essential in order to understand the pathogenesis of many genetic diseases such as fragile X syndrome and fragile X-associated tremor/ataxia syndrome (FXTAS). The choice of which animal model is most suitable to mimic a particular disease depends on ...
Ledoux Mark S - - 2012
In 1984, dystonia was defined by an ad hoc committee of the Dystonia Medical Research Foundation as a syndrome of involuntary, sustained muscle contractions affecting one or more sites of the body, frequently causing twisting and repetitive movements, or abnormal postures. In 2011, dystonia remains a purely clinical diagnosis. Primary ...
Ushiki Atsuhito - - 2012
Superior mesenteric artery syndrome is a rare cause of upper intestinal obstruction resulting from compression of the duodenum by the superior mesenteric artery and abdominal aorta. We describe a case of superior mesenteric artery syndrome in a 61-year-old Japanese man with non-small cell lung cancer who had been treated with ...
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