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Khan Aneal - - 2011
Mitochondrial diseases are increasingly being recognized as causes of encephalopathy and intractable epilepsy. There is no gold-standard test for diagnosing mitochondrial disease, and the current diagnosis relies on establishing a consistent pattern of evidence from clinical data, neuroimaging, tissue biopsy, and biochemical, genetic, and other investigations. Experience in the diagnosis ...
Naiki Misako - - 2011
BRESEK/BRESHECK syndrome is a multiple congenital malformation characterized by brain anomalies, intellectual disability, ectodermal dysplasia, skeletal deformities, ear or eye anomalies, and renal anomalies or small kidneys, with or without Hirschsprung disease and cleft palate or cryptorchidism. This syndrome has only been reported in three male patients. Here, we report ...
Inder Warrick J - - 2011
Should the recently published PCOS guidelines be revised?
Akanji Abayomi O - - 2011
Abstract The metabolic syndrome is a combination of metabolic and clinical features that aggregate in individuals and increase cardiovascular disease (CVD) risk considerably. It is believed, although sometimes controversially, that the underlying basis for this syndrome is insulin resistance (IR) and accompanying compensatory hyperinsulinemia. Insulin and insulin-like growth factors (IGFs) ...
Engel Andrew G - - 2012
Congenital myasthenic syndromes (CMS) are heterogeneous disorders in which the safety margin of neuromuscular transmission is compromised by one or more specific mechanisms. Clinical, electrophysiologic, and morphologic studies have paved the way for detecting CMS-related mutations in proteins residing in the nerve terminal, the synaptic basal lamina, and in the ...
Bhalla Tarun - - 2011
Neuroleptic malignant syndrome (NMS) is a rare disorder which is clinically similar to malignant hyperthermia (MH). It is characterized by hyperthermia, autonomic instability, muscle rigidity, coma, rhabdomyolysis, and acidosis. Without immediate and appropriate therapy, mortality may result. NMS is associated with administration of antipsychotic medications, anti-emetic medications, and changes in ...
Brundyn K - - 2011
There is a paucity of prospective data on flexible bronchoscopy with rapid on-site evaluation (ROSE) in the setting of superior vena cava (SVC) syndrome. The aims of this prospective study were to assess the diagnostic yield and safety of these investigations and specifically to evaluate the role of ROSE in ...
Baum M - - 2011
Aim: To determine the incidence of recurrent empty follicle syndrome (EFS) and to analyse the factors associated with this phenomenon. Methods: Retrospective analysis comparing all EFS cycles with cycles in which oocytes were retrieved in our in vitro fertilization (IVF) unit between 1998 and 2006. Results: Of 8292 IVF cycles, ...
Rehni Ashish K - - 2011
INTRODUCTION: Src kinase is reported to regulate neuronal nicotinic acetylcholine receptor activity, which is among the principal receptor systems acted upon by nicotine. Src kinase is documented to mediate the pathogenesis of substance dependence. Therefore, the present study has been designed to investigate the effect of SU-6656, selective src kinase ...
Smith Sheila Weiss - - 2012
There are limited reports of thrombosis among myelodysplastic syndrome patients exposed to erythropoiesis stimulating agents. It is not clear whether erythropoiesis stimulating agents are associated with an increased risk of thrombosis in myelodysplastic syndromes, as they are among patients with solid tumors. The association between use of erythropoiesis stimulating agent ...
Alicandri-Ciufelli Matteo - - 2011
OBJECTIVES/HYPOTHESIS: Munchausen's syndrome (MS) is a form of severe, chronic, factitious disorder with physical symptoms. Some essential features define MS, such as recurrent, feigned, or simulated illness; peregrination (traveling or wandering); pseudologia fantastica; and drug abuse. Munchausen's syndrome by proxy (MSBP) classically involves a parent or other caregiver who inflicts ...
Origuchi Tomoki - - 2011
Recently, it was reported that remitting seronegative symmetrical synovitis with pitting edema (RS3PE) syndrome could be complicated with solid tumors. In a retrospective, multicenter study between October, 2003 and September, 2010, we investigated the characteristics of patients with paraneoplastic RS3PE syndrome who fulfilled following criteria: (1) bilateral pitting edema of ...
Yunus Muhammad B - - 2012
Central sensitivity syndromes (CSS) include fibromyalgia syndrome (FMS), irritable bowel syndrome, temporomandibular disorder, restless legs syndrome, chronic fatigue syndrome, and other similar chronic painful conditions that are based on central sensitization (CS). CSS are mutually associated. In this paper, prevalence of FMS among other members of CSS has been described. ...
Kelleher Ian - - 2012
While a great deal of research has been conducted on prodromal risk syndromes in relation to help-seeking individuals who present to the clinic, there is a lack of research on prodromal risk syndromes in the general population. The current study aimed first to establish whether prodromal risk syndromes could be ...
Garg Ravindra Kumar - - 2011
Dravet syndrome, characterized predominantly by myoclonus, has a striking clinical resemblance to subacute sclerosing panencephalitis (SSPE). Patients with Dravet syndrome develop significant mental decline with advancing age of affected child like in SSPE. It is well established that SCN1A gene mutations are associated with Dravet syndrome. Even periodic EEG complexes ...
Triposkiadis Filippos - - 2011
There has been increasing interest on the so-called cardiorenal syndrome (CRS), defined as a complex pathophysiological disorder of the heart and kidneys whereby acute or chronic dysfunction in one organ may induce acute or chronic dysfunction in the other. In this review, we contend that there is lack of evidence ...
Kaufman William S - - 2011
  We present two pediatric patients with pityriasis lichenoides et varioliformis acuta fulminans whose admitting diagnosis was Stevens Johnson Syndrome. The patients were successfully treated with methotrexate and prednisone. These cases highlight the importance of early recognition and treatment of this disease to prevent further morbidity and a potentially fatal ...
Tiwari Rishita - - 2011
OBJECTIVES: To examine the relationship between urinary pH and metabolic syndrome risk factors along with insulin resistance in obese adolescents, and to evaluate the relationship between other urinary stone-forming and -inhibiting markers and metabolic syndrome. STUDY DESIGN: A total of 46 obese adolescents were enrolled. Twenty-four hour and randomly obtained ...
Koprivnikar Janet - - 2012
Behavioural consistency or predictability through time and/or different contexts ('syndromes' or 'personality types') is likely to have substantial influence on animal life histories and fitness. Consequently, there is much interest in the forces driving and maintaining various syndromes. Individual host behaviours have been associated with susceptibility to parasitism, yet the ...
Vinh Donald C - - 2012
Graft-versus-host disease is uncommon in autologous hematopoietic cell transplantation (HCT) and is typically brief and mild. We report unusual, protracted, and severe Omenn syndrome-like autoaggression following autologous HCT. We identified a profound FOXP3(+) regulatory T cell defect that coincided with hyperinflammatory T cell responses which were reversible with rapamycin in ...
Mahaum Nayab - - 2011
ABSTRACT: Antiphospholipid syndrome (APS) is an autoimmune disorder characterized by arterial and venous thrombotic events associated with antiphospholipid antibodies. Antiphospholipid syndrome is commonly seen with collagen vascular diseases; however, other entities that can cause APS include chronic viral infections, certain medications, and malignancies. We present an interesting patient with an ...
Ko E W-C - - 2011
The objectives of this study were to investigate the treatment effect and stability of fronto-facial monobloc distraction osteogenesis. Five consecutive patients who underwent monobloc distraction were included (aged 4.8-18.4 years). Three patients had Crouzon syndrome, one had Apert syndrome, and one had Pfeiffer syndrome. The evaluation included clinical records, serial ...
Basu Arpita - - 2011
Emerging science supports therapeutic roles of strawberries, blueberries and cranberries in the metabolic syndrome, a pre-diabetic state characterized by several cardiovascular risk factors. Interventional studies reported by our group and others have demonstrated the following effects: strawberries lowering total and LDL-cholesterol, but not triglycerides, and decreasing surrogate biomarkers of atherosclerosis ...
Date Taro - - 2011
We report a 48-year-old woman with manifest Wolff-Parkinson-White (WPW) syndrome and a long QT interval in her electrocardiogram, who represented the marked prolongation of QT interval after the successful catheter ablation for the accessory pathway. The increase in QT interval was completely restored to the baseline level 2 days after ...
Kaddah Ahmed - - 2011
Background: Primary nephrotic syndrome is a common renal problem in pediatrics, with great variation in patients' characteristics in different regions of the world. The aim of this study was to define these characteristics in Egyptian children with primary nephrotic syndrome. Methods: Records of 100 primary nephrotic syndrome patients were retrospectively ...
Gerhard-Herman Marie - - 2012
Hutchinson-Gilford progeria syndrome is a rare, segmental premature aging syndrome of accelerated atherosclerosis and early death from myocardial infarction or stroke. This study sought to establish comprehensive characterization of the fatal vasculopathy in Hutchinson-Gilford progeria syndrome and its relevance to normal aging. We performed cardiovascular assessments at a single clinical ...
Savic Sinisa - - 2011
PURPOSE OF REVIEW: The spectrum of periodic fever syndromes (PFS)/autoinflammation diseases is continuously expanding. This review provides an overview of the primary research and an update on the main clinical developments in these disorders published in the past 12-18 months. RECENT FINDINGS: IL-1β is pivotal to the pathogenesis of most ...
Walsh Ryan D - - 2011
ABSTRACT: Bálint syndrome (simultagnosia, optic ataxia, and ocular apraxia) is typically caused by pathology affecting the parietal-occipital regions bilaterally. Visual allochiria is an uncommonly reported symptom associated with parietal lobe pathology in which visual stimuli presented to one hemispace are transposed to the opposite side. We describe a patient with ...
Roe Matthew T - - 2011
During the past two decades, the use of antiplatelet therapies has been the focus of new studies of secondary prevention after acute coronary syndromes, with more than 75% of patients in contemporary practice treated with dual antiplatelet therapy (aspirin plus a thienopyridine) on hospital discharge.(1) Despite increases in the use ...
Zhang Cheng Chao - - 2011
BACKGROUND: A case of mesocavoatrial shunting for the treatment of Budd-Chiari syndrome (BCS) with long-term follow-up is reported. METHODS: A 25-year-old man with stage II BCS was treated with a mesocavoatrial shunt to decompress the portal and IVC hypertension. During the 6-year follow-up, the patient was able to resume work ...
Llurba Elisa - - 2011
Mirror Syndrome (MS) is a rare condition that involves foetal hydrops, placentomegaly and severe maternal oedema. The pathogenesis of this syndrome mimics endothelial dysfunction observed in pre-eclampsia. We report a case of maternal MS caused by bilateral fetal hydrothorax that resolved after intrautero pleuroamniotic shunt placement. At the time of ...
Chan Jane W - - 2011
This is the first report of 2 patients presenting with short-lasting unilateral neuralgiform headache with autonomic symptoms as the initial manifestation of idiopathic hypertrophic cranial pachymeningitis. They both had acute retro-orbital pain ipsilateral to the dural thickening on magnetic resonance imaging of brain, and one had transient miosis as an ...
Prandoni Paolo - - 2011
Deep-vein thrombosis (DVT) can have a significant impact on a patient's life. In particular, the development of post-thrombotic syndrome as a long-term complication of DVT can have devastating consequences for the individual and impose a substantial economic burden on healthcare systems. Anticoagulants are the mainstay of DVT treatment; however, the ...
Bonsignore Maria R - - 2012
The metabolic syndrome shows a variable prevalence in obstructive sleep apnoea (OSA), and its association with insulin resistance or excessive daytime sleepiness in OSA is unclear. This study assessed the following in consecutive patients with newly diagnosed OSA: 1) the prevalence of metabolic syndrome; and 2) its association with insulin ...
Tessaris Daniele - - 2011
McCune-Albright Syndrome (MAS) is a congenital endocrine disorder due to mosaic tissutal hyper-function. We describe a boy with a molecularly confirmed MAS, clinically evident with congenital café-au-lait spots, bone fibrous dysplasia, hyperthyroidism, and renal phosphate wasting syndrome. At 4.6 years of age he disclosed a rapid progression of peripheral puberty, ...
McNaught Kevin St P - - 2011
Tourette syndrome is a hereditary, childhood-onset neurodevelopmental disorder that was first clearly described in France in 1885. This disorder is characterized by sudden, rapid, recurrent, nonrhythmic movements (motor tics) or sounds (vocal or phonic tics), often preceded by premonitory sensations or urges. Some individuals also have psychiatric comorbidities, notably attention-deficit ...
Schüring A N - - 2011
Polycystic ovary syndrome (PCOS) is a frequent heterogenic disorder with a familial background. Androgenic effects, determining the clinical features of the syndrome, are mediated by the androgen receptor (AR), whose activity is modulated by a genetic polymorphism. We investigated the role of the CAG repeat polymorphism of the androgen receptor ...
Nandhagopal Ramachandiran - - 2011
OBJECTIVE: To report the clinical and imaging findings in a patient with an initial fluctuating disconnection syndrome due to corpus callosal ischemia that ultimately culminated in infarction with persistent symptoms. CASE REPORT: A 40-year-old, hypertensive, right-handed man presented with transient, stereotyped symptoms of corpus callosal disconnection (intermanual conflict, apraxia, dysgraphia ...
Brogna Christian - - 2011
ABSTRACT: Achille Louis Foville's Atlas of Brain Anatomy (1844) is one of the most artistic and detailed works on neuroanatomy in the medical literature. The outstanding drawings by the two artists, Emile Beau and Frédéric-Michel Bion, highlight all the philosophy, ability and sensibility of A. L. Foville in carefully dissecting ...
Kawamoto Ryuichi - - 2011
Abstract Background: Metabolic syndrome is associated with an increased risk of major cardiovascular events. Decreased high-molecular-weight (HMW) adiponectin levels are associated with metabolic syndrome and its components. Changes in γ-glutamyl transferase (GGT) levels are also associated with metabolic syndrome and could be modulated by HMW adiponectin. Methods: From a single ...
Celik Tolga Hasan - - 2011
Ectrodactyly, ectodermal dysplasia, clefting (EEC) syndrome is the prototype of several p63 conditions, which include ankyloblepharon, ectodermal dysplasia, clefting (AEC) syndrome, limb-mammary syndrome (LMS), Rapp-Hodgkin syndrome (RHS), ADULT syndrome, and others. All these disorders include combinations of ectodermal dysplasia, orofacial clefting and limb malformations in variable severity. A newborn patient ...
Milošević Biljana - - 2012
Common variable immunodeficiency is a primary immunodeficiency disease characterized by reduced serum immunoglobulins and heterogeneous clinical features. Recurrent pyogenic infections of upper and lower respiratory tracts are the main clinical manifestations of common variable immunodeficiency. Hemolytic uremic syndrome is a multisystemic disorder characterized by thrombocytopenia, microangiopathic hemolytic anemia, and organ ...
Amary M Fernanda - - 2011
Ollier disease and Maffucci syndrome are characterized by multiple central cartilaginous tumors that are accompanied by soft tissue hemangiomas in Maffucci syndrome. We show that in 37 of 40 individuals with these syndromes, at least one tumor has a mutation in isocitrate dehydrogenase 1 (IDH1) or in IDH2, 65% of ...
Zambito Marsala Sandro - - 2011
Tick borne encephalitis virus infection usually shows a biphasic course. In the first stage of illness symptoms are similar to a flu-like syndrome, then after a defervescence period, fever may represent with neurological manifestations ranging from mild meningitis to severe encephalomyelitis. We report the clinical case of an adult man ...
Mishra Om P - - 2011
Urinary N-acetyl-beta-D: glucosaminidase (NAG) is a sensitive biomarker of renal parenchymal disease. The aim of this study was to investigate variations in the levels of NAG excretion among different sub-groups of nephrotic syndrome (first episode, relapsers, and resistant) and its prediction based on proteinuria. Thirty-five patients with idiopathic nephrotic syndrome, ...
Ramieri Valerio - - 2011
The authors present the clinical case of a 5-month-old boy, affected by multimalformative syndrome with features of microdeletion 3q syndrome. In the literature so far, the real incidence is unknown because of its rarity. The goal of this study was to describe the salient findings of this rare malformative syndrome, ...
Lebreiro Ana - - 2011
Tall stature is a common feature of both Marfan syndrome and XYY syndrome. Differential diagnosis between these entities has important prognostic implications. We report the case of a 21-year-old young man with a previously known diagnosis of XYY syndrome, in whom the identification of a fibrilin-1 mutation was determinant to ...
Khachiyants Nina - - 2011
"Sundowning" in demented individuals, as distinct clinical phenomena, is still open to debate in terms of clear definition, etiology, operationalized parameters, validity of clinical construct, and interventions. In general, sundown syndrome is characterized by the emergence or increment of neuropsychiatric symptoms such as agitation, confusion, anxiety, and aggressiveness in late ...
Ebong Imo A IA Department of Epidemiology and Prevention, Wake Forest School of Medicine, Winston Salem, North Carolina 27157, USA. - - 2012
The association between metabolic syndrome and electrocardiographic (ECG) abnormalities is not well established. ECG tracings of 6,765 men and women aged 45-84 years, free of clinical cardiovascular disease, from the Multi-Ethnic Study of Atherosclerosis were obtained (2000-2002) and classified as normal or having major or minor abnormalities. We evaluated the ...
Sakthivel Muthukumar - - 2011
The panniculitides are a group of heterogeneous inflammatory diseases involving the subcutaneous fat, the pathogenesis of which is poorly understood. Here, we report on a female infant with Prader-Willi syndrome who developed a systemic inflammatory disorder in the neonatal period demonstrating recurrent panniculitis as a prominent feature. This is the ...
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