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Tangen Samantha E SE School of Life Sciences, Arizona State University, Tempe, Arizona, United States of - - 2013
Although insulin resistance in skeletal muscle is well-characterized, the role of circulating whole blood in the metabolic syndrome phenotype is not well understood. We set out to test the hypothesis that genes involved in inflammation, insulin signaling and mitochondrial function would be altered in expression in the whole blood of ...
Sinha A - - 2013
Prolonged therapy with calcineurin inhibitors (CNI) is effective in patients with difficult nephrotic syndrome. However, information on prevalence and risk factors for nephrotoxicity in children with steroid-resistant nephrotic syndrome is limited. This retrospective observational study was conducted on 40 patients with steroid-resistant nephrotic syndrome treated with cyclosporine (CyA) (n = ...
Donadille Bruno - - 2013
Laminopathies, due to mutations in LMNA, encoding A type-lamins, can lead to premature ageing and/or lipodystrophic syndromes, showing that these diseases could have close physiopathological relationships. We show here that lipodystrophy and extreme insulin resistance can also reveal the adult progeria Werner syndrome linked to mutations in WRN, encoding a ...
Carrasco-Miranda J S - - 2013
Human nephrotic syndrome has been related to mutations in glomerular proteins. Mutations in the NPHS2 gene that encodes podocin have been described as responsible for steroid-resistant nephrotic syndrome. It has been advised to test for NPHS2 mutations in parallel or before giving steroid treatment in nephrotic syndrome patients in order ...
Houser Dorian S DS Department of Conservation and Biological Research, National Marine Mammal Foundation , San Diego, CA , - - 2013
Insulin resistance in modern society is perceived as a pathological consequence of excess energy consumption and reduced physical activity. Its presence in relation to the development of cardiovascular risk factors has been termed the metabolic syndrome, which produces increased mortality and morbidity and which is rapidly increasing in human populations. ...
Lehnen Alexandre M - - 2013
Metabolic syndrome has been defined as a group of risk factors that directly contribute to the development of cardiovascular disease and/or type 2 diabetes. Insulin resistance seems to have a fundamental role in the genesis of this syndrome. Over the past years to the present day, basic and translational research ...
Pizzo Alfonsa A Department of Pediatric, Gynecological, Microbiological and Biomedical Sciences, University of Messina, Via C. Valeria 1, 98125 Messina, - - 2013
Androgen Insensitivity Syndrome (AIS) could be considered as a disease that causes resistance to androgens actions, influencing both the morphogenesis and differentiation of the body structures, and systems in which this hormone exerts its effects. It depends on an X-linked mutations in the Androgen Receptor (AR) gene that express a ...
Murphy Rinki - - 2013
Identifying rare human metabolic disorders that result from a single-gene defect has not only enabled improved diagnostic and clinical management of such patients, but also has resulted in key biological insights into the pathophysiology of the increasingly prevalent metabolic syndrome. Insulin resistance and type 2 diabetes are linked to obesity ...
Simic Ivana - - 2012
Animal models of proteinuria and nephrotic syndrome are essential tools for studying the mechanisms of action of abnormalities in individual components of the podocyte and glomerular basement membrane. In recent years a variety of in vivo models have been developed to elucidate the function of specific podocyte proteins and their ...
Porta Mauro - - 2012
Deep brain stimulation (DBS) is an emerging therapeutic option for severe resistant Tourette syndrome (TS). To date, about 100~cases have been reported in the scientific literature. Different clinical guidelines have been proposed for this procedure from both USA and European centres. A number of issues remain unresolved, mainly in relation ...
Fellmann Lyne - - 2012
Metabolic syndrome has been described as the association of insulin resistance, hypertension, hyperlipidemia and obesity. Its prevalence increased dramatically, mainly in developed countries. Animal models are essential to understand the pathophysiology of this syndrome. This review presents the murine models of metabolic syndrome the most often used in pharmacological studies. ...
Chugh Kiran - - 2012
We evaluated the thyroid function tests in individuals with metabolic syndrome to explore the possibility of thyroid receptor resistance. The study was a cross-sectional study. It included 40 patients (group I) and 20 healthy individuals served as controls (group II). Patients in group I fulfilled the three or more of ...
Sallam Hossam Eldin - - 2012
An 18-year-old man presented with severe nephrotic syndrome due to focal segmental glomerulosclerosis. His disease failed to remit with corticosteroids, calcineurin inhibitors, mycophenolate and rituximab. As his disease progressed with time, his anasarca became more resistant to high-dose combination diuretics and he developed multiple life-threatening bacterial infections. He was subjected ...
Zhang Sigong - - 2012
Type B insulin resistance syndrome is characterized by the formation of autoantibodies against insulin receptors, which can cause severe hyperglycemia and insulin resistance. Systemic lupus erythematosus is the most common underlying diseases of the syndrome. This report details our study of a case involving a Chinese female with type B ...
Li Xiang X Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, WA, - - 2013
The transcription factor TWIST-1 is up-regulated in CD34(+) cells in myelodysplastic syndrome and is involved in resistance to apoptosis. There is evidence that TWIST-1 affects apoptosis via microRNAs (miRs). Expression of miRs was determined in myeloid cell lines and primary CD34(+) marrow cells from patients with myelodysplastic syndrome and healthy ...
Kute Vivek Balkrishna VB Department of Nephrology and Clinical Transplantation, Institute of Kidney Diseases and Research Center, Dr HL Trivedi Institute of Transplantation Sciences [IKDRC-ITS], Civil Hospital Campus, Asarwa, Ahmedabad, 380016 Gujarat - - 2013
Acute kidney injury (AKI) is one of the most dreaded complications of severe malaria. Herein, we report a case of spontaneous resolution of AKI due to collapsing glomerulopathy (CG) and hemolytic-uremic syndrome (HUS) associated with P. falciparum malaria. Our case report highlights the fact that early intervention on the triggering ...
Naha Kushal - - 2012
Diffuse myositis with progression to rhabdomyolysis has been reported in association with wide range of viral infections. We report a case of polymyositis-like syndrome complicated by rhabdomyolysis secondary to brucellosis. This case report thus contributes yet another atypical presentation to a disease already infamous for its protean manifestations.
Locuratolo Nicoletta - - 2012
Central nervous system involvement is an uncommon though potentially a severe complication during influenza infection; the pathogenic mechanisms of the neurological syndromes described in humans are largely unknown. We describe a case of a 51-year-old man who presented with fever and behavioral changes but no focal neurological deficits. The next ...
Filaković Pavo - - 2012
Metabolic syndrome represents a cluster of interrelated metabolic dysfunctions which are risk factors for the development of diabetes and cardiovascular disease. Results of clinical studies suggest significant effects of certain psychotropic medications on weight gain and manifestation of type II diabetes. The psychoactive drugs may influence weight gain through increased ...
Wang Chengbao - - 2012
Following the 2006 outbreaks of the highly pathogenic porcine reproductive and respiratory syndrome, the causative agent was identified as the highly pathogenic porcine reproductive and respiratory syndrome virus (HP-PRRSV). To investigate whether the HP-PRRSV variant continues circulating and accelerating evolution, we sequenced and analyzed the complete genome of the identified ...
Dhingra Sandeep S Classified Specialist (Pediatrics), Base Hospital, Delhi Cantt 110010, - - 2012
Steroid resistant nephrotic syndrome (SRNS) continues to be a challenge for pediatric nephrologists the world over. Secondary causes of nephrotic syndrome need to be searched for in all cases of steroid resistance. Hepatitis B virus (HBV) is associated with several types of glomerulonephritis, most commonly being membranous nephropathy (MN) in ...
Weissenbacher-Lang C - - 2012
The aim of this study was to identify the causative factors of porcine ear necrosis syndrome (PENS) in 72 pigs, 5.5-10weeks in age housed on nine farms. Biopsy samples of ear pinnae were collected from all piglets for bacteriology, histopathology and in situ hybridization for porcine circovirus type 2 (PCV2). ...
Hanley Patrick W - - 2012
A 10-y-old multiparous rhesus macaque presented for an annual routine physical examination. Clinically, the animal had pale mucous membranes, petechial and ecchymotic hemorrhages in multiple sites, and a laceration at the tail base. Severe pancytopenia was noted on hematologic evaluation. The monkey was seronegative for SIV, simian T-lymphotropic virus, simian ...
Zhao Li - - 2012
Severe fever with thrombocytopenia syndrome, which results in severe illness and has a high case-fatality rate, is caused by a novel bunyavirus, severe fever with thrombocytopenia syndrome virus. We found that samples from 2/237 (0.8%) healthy persons and 111/134 (83%) goats in Yiyuan County, Shandong Province, China, were seropositive for ...
Pérez-Dieste J M - - 2013
CASE REPORT: A 73 year-old woman with epiphora and ocular irritation resistant to medical treatment. The lacrimal pathway was permeable and there was no eyelid malposition. On examining the patient with her glasses on, both lower eyelids presented an inner third ectropion. Once the diagnosis was established and the mechanical ...
Thagun Chonprakun - - 2012
White spot syndrome virus is currently the leading cause of production losses in the shrimp industry. Penaeus monodon Rab7 protein has been recognized as a viral-binding protein with an efficient protective effect against white spot syndrome infection. Plant-derived recombinant PmRab7 might serve as an alternative source for in-feed vaccination, considering ...
Cao Jianbo - - 2012
Since 2006, an unprecedented epidemic of highly pathogenic Porcine reproductive and respiratory syndrome virus (HP-PRRSV) infection has emerged and prevailed in mainland China, causing so called high fever disease with a nervous symptom that is different from typical porcine reproductive and respiratory syndrome. To investigate this syndrome, the brains of ...
Meltzer Eyal - - 2012
The viral hemorrhagic fever (VHF) syndrome is a potentially life-threatening infection typified by a combination of a capillary leak syndrome and bleeding diathesis. Most but not all agents causing VHF are arboviruses, with transmission to humans resulting from an arthropod bite. Agents of VHF affect humans on all continents. Population ...
Yao Huiping - - 2012
Purpose: To describe a case of virus-associated hemophagocytic syndrome with ocular changes resembling Vogt-Koyanagi-Harada disease prior to the systemic changes. Methods: A 51-year-old man presented with a sudden decline in vision. The patient was examined by fluorescein angiography, bone marrow biopsy, abdominal ultrasound, ocular examinations, and laboratory examinations. Results: Fluorescein ...
Deshingkar S A - - 2012
Progressive hemifacial atrophy, also known as Parry-Romberg Syndrome, is an uncommon degenerative and poorly understood condition. It is characterized by a slow and progressive atrophy affecting one side of the face. The incidence and the cause of this alteration are unknown. A cerebral disturbance of fat metabolism has been proposed ...
An Jihyun - - 2012
Hepatitis A virus (HAV) infections occur predominantly in children, and are usually self-limiting. However, 75-95% of the infections in adults are symptomatic (mostly with jaundice), with the illness symptoms usually persisting for a few weeks. Atypical manifestations include relapsing hepatitis, prolonged cholestasis, and complications involving renal injury. Drug rash with ...
Cunha Burke A - - 2012
Infectious mononucleosis (IM) is a clinical syndrome most often attributable to Epstein-Barr virus (EBV). Characteristic clinical features of EBV IM include bilateral upper lid edema, exudative or nonexudative pharyngitis, bilateral posterior cervical adenopathy, and splenomegaly ± maculopapular rash. Laboratory features of EBV IM include atypical lymphocytes and elevated levels of ...
Tse Alan C T - - 2012
Guillain-Barré syndrome (GBS) is a neurological emergency that warrants prompt diagnosis and treatment. Occasionally, the clinical, laboratory and electrophysiological features are neither typical nor diagnostic. It requires a high index of suspicion and clinical judgement for early diagnosis and commencement of treatment in those scenarios. Some pathogens are potential triggers ...
Upreti Vimal - - 2012
Berardinelli- Seip syndrome is an autosomal recessive disorder characterized by generalized lipoatrophy, extreme insulin resistance with dyslipidemia in childhood and development of diabetes in adolescence. Menstrual irregularities are commonly seen as a result of secondary polycystic ovarian syndrome. Delayed puberty as a manifestation of these abnormalities in girls has rarely ...
Urbano Flavia - - 2012
We report on a case of autoimmune thyroiditis in a 6-month-old patient with cortico-resistant nephrotic syndrome. Normal serum levels of thyroid hormons and thyroid-stimulating hormone were detected with high titers of circulant antithyroid antibodies and a dysomogeneous ultrasound appearance of the gland, typical of autoimmune thyroiditis. The research of maternal ...
Ogunneye Owolabi - - 2012
Posterior reversible encephalopathy syndrome is a clinical and radiological entity. The most accepted theory of posterior reversible encephalopathy syndrome is a loss of autoregulation in cerebral blood flow with a subsequent increase in vascular permeability and leakage of blood plasma and erythrocytes, producing vasogenic edema. In infection-associated posterior reversible encephalopathy ...
Aubry C - - 2012
In May 2012, a Coxsackievirus A24 haemorrhagic conjunctivitis was diagnosed in Marseille, France, in a traveller returning from the Comoros Islands. This case allowed identification of the cause of an ongoing outbreak of haemorrhagic conjunctivitis in Indian Ocean Islands, illustrating that returning travellers may serve as sentinels for infectious diseases ...
Vasconcelos Alexandra A Paediatrics Department, Hospital Prof Doutor Fernando Fonseca, Lisboa, Portugal. - - 2012
Majority of children with pandemic influenza A (H1N1)pdm09 experience mild illness with full recovery without treatment. A previously healthy two and a half month-old girl was admitted to our paediatric intensive care unit because of severe respiratory failure with A (H1N1)pdm09 infection. Despite initial clinical improvement all attempts to extubate ...
Silve C C INSERM U986, Centre de Référence des Maladies Rares du Métabolisme phospho-calcique, Faculté de Médecine, Université Paris-Sud , Le Kremlin Bicêtre, France ; Laboratoire de Biochimie Hormonale et Génétique, Hôpital Bichat Claude Bernard , Paris, - - 2012
Acrodysostosis (ADO) refers to a heterogeneous group of rare skeletal dysplasia that share characteristic features including severe brachydactyly, facial dysostosis and nasal hypoplasia. The literature describing acrodysostosis cases has been confusing because some reported patients may have had other phenotypically related diseases presenting with Albright Hereditary Osteodystrophy (AHO) such as ...
Kodaira Minori - - 2012
Six days after the onset of influenza B symptoms, a 14-year-old Japanese boy presented with encephalopathy-like symptoms, somnolence, irritability, and childishness, which we first considered was an atypical type of influenza-associated encephalopathy because the infection symptoms disappeared by day 4. His encephalopathy-like symptoms gradually improved, although he had repetitive hypersomnia ...
Burté Florence F Division of Parasitology, Medical Research Council National Institute for Medical Research, London, United - - 2012
Cerebral malaria (CM) and severe malarial anemia (SMA) are the most serious life-threatening clinical syndromes of Plasmodium falciparum infection in childhood. Therefore it is important to understand the pathology underlying the development of CM and SMA, as opposed to uncomplicated malaria (UM). Different host responses to infection are likely to ...
Guisado-Macías Juan A - - 2012
The importance effect on the population of the new virus Influenza A/H1N1 and the potential therapeutic with Oseltamivir. Clinical case. Patient of 62 years old, without history of interest, contracted Influeza A, that she undergoes a confusional syndrome responding to antipsychotics and with complete recovery after the episode. Conclusions. Establish ...
Vilke Gary M - - 2012
Recently, the National Institute of Justice (NIJ) of the United States of America convened a meeting of experts in the area of Excited Delirium Syndrome (ExDS). The history of ExDS, the clinical presentation, the pathophysiology, differential diagnoses and management options were discussed. Though the specific pathophysiological pathways of ExDS have ...
Ciaccio Christina E - - 2011
Angioedema is an increasing cause of hospitalizations in the United States. This syndrome presents with non-pitting, asymmetric swelling of the face, lips, tongue, larynx, genitalia, and extremities, although any part of the body can be involved. Common causes of angioedema include allergic reactions and ACE inhibitors. Hereditary angioedema is a ...
Vaclavik V - - 2011
Purpose: To report on the clinical and electrophysiological findings in a patient with oculo-auricular syndrome due to HMX1 mutation, with a follow-up of 12 years. Background: Oculo-auricular syndrome (MIM: 612109) is a rare developmental condition affecting the eye and external ear that results from a mutation in the HMX1 gene. ...
Ott Johannes - - 2011
The aim of our study was to review our experience with a modified technique of laparoscopic ovarian drilling (LOD) using a monopolar hook electrode. We retrospectively included 38 clomiphene-resistant women with polycystic ovary syndrome undergoing LOD. A laparoscopic monopolar hook electrode was used to make three to six incisions in ...
Agrawal Avinash A Department of Internal Medicine, CSM Medical University, Lucknow, Uttar Pradesh, India. - - 2011
Dengue infection is now known to present with wide spectrum of complications. Isolated cases of acute pancreatitis complicating dengue haemorrhagic fever have been reported in literature. Here the authors report a case of dengue haemorrhagic fever that develops acute pancreatitis and presented with acute onset of breathlessness, which then progressed ...
Podgórska K - - 2011
The aim of the study was to assess the usefulness of real-time PCR and serological methods as indicators of postweaning multisystemic wasting syndrome (PMWS) occurrence. Significantly higher level of porcine circovirus type 2 (PCV2) viral load in serum and significantly lower titre of specific antibodies in PMWS-affected pigs indicated that ...
Soleimani Manoocher - - 2011
Metabolic syndrome, as manifested by visceral obesity, hypertension, insulin resistance, and dyslipidemia, is reaching epidemic proportions in the Western World, specifically the United States. Epidemiologic studies suggest that the increased prevalence of metabolic syndrome directly correlates with an increase in the consumption of fructose, mainly in the form of high-fructose ...
Kutsuzawa Daisuke - - 2011
Hypokalemia accentuates the electrocardiographic (ECG) pattern of Brugada syndrome. We report two patients with Brugada syndrome and hypokalemia-induced lethal events. Despite concealing the typical ECG pattern with normalization of serum potassium levels, late potentials were persistently detected by signal-averaged ECG, even at the 18-month follow-up. An implantable cardioverter defibrillator was ...
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