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Lu Lu L Department of Traditional Chinese Medicine, ZhuJiang Hospital, Southern Medical University, Guangzhou, 510280, - - 2014
While many previous studies have reported an association between the p.R229Q variant of the NPHS2 gene and focal segmental glomerulosclerosis (FSGS) or steroid-resistant nephrotic syndrome (SRNS), a conclusive relationship has not been defined. In this study, we performed a meta-analysis of the published data to investigate the impact of the ...
Hu Lei L Department of Surgical Intensive Care Unit, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, - - 2014
We report a patient with ventricular septal defect (VSD) and Eisenmenger syndrome. The patient was treated with bosentan for 12 weeks, with a decrease in pulmonary vascular resistance index (PRVi) from 18.84 to 9.63 Wood unit (WU) m(2) , and underwent successful corrective repair of the VSD after 12 weeks of ...
Mercan Rıdvan R Department of Internal Medicine, Division of Rheumatology, Gazi University Hospital , Ankara , - - 2014
Protracted febrile myalgia syndrome (PFMS) is a very rare but severe manifestation of familial Mediterranean fever (FMF) which is characterized by severe debilitating pain in large muscle groups that may last for several weeks. Colchicine is ineffective and treatment is largely supportive. Demonstration of crucial role of interleukin-1 (IL-1) in ...
Hartono Choli C The Rogosin Institute, 505 East 70th Street, Box 102, New York, NY, 10021, USA, - - 2014
Idiopathic membranous nephropathy is a common cause of nephrotic syndrome in adults. The nephrotic syndrome due to idiopathic membranous nephropathy is often resistant to glucocorticosteroids and requires an alkylating agent such as chlorambucil or cyclophosphamide to induce remission. Recent studies illustrate that antibodies against the autoantigen M-type phospholipase A2 receptor ...
Lipska Beata S BS 1] Department of Biology and Genetics, Medical University of Gdansk, Gdansk, Poland [2] Division of Pediatric Nephrology, Center for Pediatrics and Adolescent Medicine, University of Heidelberg, Heidelberg, - - 2014
WT1 mutations cause a wide spectrum of renal and extrarenal manifestations. Here we evaluated disease prevalence, phenotype spectrum, and genotype-phenotype correlations of 61 patients with WT1-related steroid-resistant nephrotic syndrome relative to 700 WT1-negative patients, all with steroid-resistant nephrotic syndrome. WT1 patients more frequently presented with chronic kidney disease and hypertension ...
Shah Rupin R Department of Lymphoma/Myeloma, The University of Texas M. D. Anderson Cancer Center, Houston, Texas (R. Shah); the Rollins School of Public Health, Emory University, Atlanta, Georgia (N. Shah); the Department of Nephrology, Lilavati Hospital and Research Center, Mumbai, India (A. Shah); and the Division of Nephrology, Department of Internal Medicine, Baylor University Medical Center at Dallas and Texas A&M Health Science Center, College of Medicine, Dallas, Texas - - 2014
We present a patient with steroid-resistant nephrotic syndrome due to focal segmental glomerulosclerosis along with smoldering multiple myeloma. While investigating the cause of proteinuria, a monoclonal gammopathy with a negative kidney biopsy for myeloma-related pathology was discovered.
Keskar V S VS Department of Nephrology, Seth Gordhandas Sunderdas Medical College and King Edward Memorial Hospital, Parel, Mumbai, Maharashtra, - - 2014
We report a case of hemolytic uremic syndrome (HUS) in an adult patient with Plasmodium vivax malaria. The patient presented with worsening anemia, persistent thrombocytopenia and acute kidney injury. HUS was diagnosed based on the high serum lactate dehydrogenase, elevated reticulocyte count and presence of schistocytes on peripheral blood smear. ...
Li Weiping - - 2014
Donohue syndrome, a rare autosomal recessive disorder, is associated with the mutation of the insulin receptor gene in the short arm of the 19th chromosome. It is very rare that a syndrome of insulin resistance resembles Donohue syndrome with patent ductus arteriosus. A 14-year-old girl, whose parents were consanguineous, was ...
Kaur Jaspinder J 0000-0003-4020-8562 Ex-Servicemen Contributory Health Scheme (ECHS) Polyclinic, Sultanpur Lodhi, Kapurthala District 144626, - - 2014
Metabolic syndrome is defined by a constellation of interconnected physiological, biochemical, clinical, and metabolic factors that directly increases the risk of cardiovascular disease, type 2 diabetes mellitus, and all cause mortality. Insulin resistance, visceral adiposity, atherogenic dyslipidemia, endothelial dysfunction, genetic susceptibility, elevated blood pressure, hypercoagulable state, and chronic stress are ...
Ko Seong-Hee SH Department of Food and Nutrition, College of Human Ecology, Sookmyung Women's University, Seoul 140-742, - - 2013
Metabolic syndrome describes a group of clinical features that together increase the incidence of coronary artery disease, stroke and type 2 diabetes. Insulin resistance is a major risk factor for developing metabolic syndrome. A chronic state of inflammation accompanies the accumulation of surplus lipids in adipose and liver tissue, frequently ...
Malaga-Dieguez Laura - - 2013
Steroid-resistant nephrotic syndrome has a poor prognosis and often leads to end-stage renal disease development. In this issue of the JCI, Ashraf and colleagues used exome sequencing to identify mutations in the aarF domain containing kinase 4 (ADCK4) gene that cause steroid-resistant nephrotic syndrome. Patients with ADCK4 mutations had lower ...
Poyrazoglu Sukran - - 2013
The prevalence of obesity is on the increase, and consequently metabolic syndrome is also becoming a serious health problem in children and adolescents all over the world. This review attempts to summarize the recent literature on metabolic syndrome in children and adolescents. To date, a standard definition of metabolic syndrome ...
Cunnington Aubrey J - - 2013
Severe malaria manifests as several overlapping syndromes with high mortality. Interaction of parasites with endothelial protein C receptors and high parasite biomass have recently been identified as key determinants of severe disease. However, gaps in our understanding of severe malaria might hinder translation of these findings into new therapies.
Cunnington Aubrey J - - 2013
Severe malaria defines individuals at increased risk of death from their infection. Proposed pathogenic mechanisms include parasite sequestration, inflammation, and endothelial dysfunction. Severe malaria is not a single entity, manifesting with distinct syndromes such as severe anemia, severe respiratory distress or coma, each characterized by differences in epidemiology, underlying biology, ...
Islam Akm Monwarul - - 2013
Ortner syndrome is a rare condition characterized by hoarseness of voice in association with a cardiovascular disease. It is caused by compression of the left recurrent laryngeal nerve by the pulmonary artery or left atrium. Mitral stenosis is a well-recognized cause, however, a number of cardiac and non-cardiac conditions have ...
Schroeder Christopher - - 2013
SHORT syndrome (OMIM 269880) is a rare autosomal dominant disorder characterized by short stature, hyperextensibility of joints, hernias, ocular depression, ophthalmic anomalies (Rieger anomaly, posterior embryotoxon, glaucoma), teething delay, partial lipodystrophy, insulin resistance and facial dysmorphic signs. Heterozygous mutations in PIK3R1 were recently identified in 14 families with SHORT syndrome. ...
Pace Adrian A - - 2013
Post-malaria neurological syndrome (PMNS) is an uncommon, monophasic illness that occurs within two months following recovery from Plasmodium falciparum (Pf) malaria. Clinical manifestations of PMNS are variable, but published cases uniformly feature neurological and/or psychiatric symptoms without long tract signs. We describe a case of severe brainstem and spinal cord ...
Swierczewska Monika - - 2013
Steroid therapy, due to a wide range of anti-inflammatory properties of steroids, is a basic field of treatment in many human diseases including the nephrotic syndrome in children. However, not all patients respond positively to therapy which divides them into steroid sensitive (SS) and steroid resistance (SR) individuals. Many potential ...
Saki Forough F Student Research Committee, Shiraz University of Medical Sciences, Shiraz, Iran ; Department of Pediatrics, Division of Endocrinology, Shiraz University of Medical Sciences, Shiraz, - - 2013
Retinol-binding protein 4 (RBP4) has recently been reported to be associated with insulin resistance (IR) and the metabolic syndrome by a number of researchers in various populations. However, controversies are present among different studies, which might be due to the differences between various ethnic, age, and sex groups. This study ...
Jung Eui-Man - - 2013
Metabolic syndrome arises from a combination of disorders that increase the risk of cardiovascular disease and diabetes. In previous studies, it was observed that overexpression of 11β‑hydroxysteroid dehydrogenase type 1 (11β‑HSD1) induced obesity and the insulin resistance that accompanies metabolic syndrome in rodent adipose tissue. Based on these observations, it was ...
Grasso Valeria - - 2013
Biallelic insulin receptor (INSR) gene mutations cause congenital syndromes of severe insulin resistance (SIR) known as Donohue syndrome (DS) and Rabson-Mendenhall syndrome (RMS). At presentation, DS and RMS are difficult to differentiate since they share many clinical features; however, while patients with DS usually die within 1 year of birth, individuals ...
Thauvin-Robinet Christel C Equipe d'Accueil 4271, Génétique des Anomalies du Developpement, Université de Bourgogne, F-21079 Dijon, France. - - 2013
Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome is a developmental disorder with an unknown genetic cause and hallmarks that include insulin resistance and lack of subcutaneous fat. We ascertained two unrelated individuals with SHORT syndrome, hypothesized that the observed phenotype ...
Van den Steen Philippe E - - 2013
Malaria-associated acute respiratory distress syndrome (MA-ARDS) is an increasingly reported, often lethal, and incompletely understood complication of malaria. We discuss and compare the pathogenesis of MA-ARDS in patients and in different murine models, including recent models without cerebral involvement, and summarize the roles of different leukocyte subclasses, adhesion molecules, cytokines, ...
Kizhner V - - 2013
Background: Community-acquired methicillin-resistant Staphylococcus aureus is a growing health concern. Lemierre's syndrome is a septic jugular thrombophlebitis that primarily affects young adults. This paper aimed to identify a possible sub-group of Lemierre's syndrome cases associated with community-acquired methicillin-resistant Staphylococcus aureus. Method: This paper reports the case of a 16-year-old male ...
Iizuka Hiromitsu - - 2013
A 68-year-old woman with essential thrombocythemia had been treated with hydroxycarbamide and aspirin for 13 years. She exhibited the rapid progression of anemia, and a bone marrow examination showed dysplasia of the erythroid cells, myeloid cells, and megakaryocytes. Karyotype analysis indicated complex abnormalities including der (5;21)(p10;q10). She was diagnosed with ...
Trapani S - - 2013
Macrophage activation syndrome is a potentially fatal clinical syndrome caused by an excessive activation and proliferation of macrophages and T cells, leading to an exaggerated inflammatory reaction. It is well known that it can complicate the course of different conditions, especially autoimmune, lympho-proliferative, infectious diseases and drugs. Many infective pathogens ...
Nayak Rajeev - - 2013
Several systemic and neurological complications can occur with Plasmodium falciparum malaria, of which cerebral malaria is well known and is the most serious. Rarely, patients may suffer a neurological disorder that occurs after complete recovery from P. falciparum infection, an entity known as post-malaria neurological syndrome (PMNS). It is a ...
Cojocaru Doina-Clementina DC Ist Medical Department, Faculty of Medicine, University of Medicine and Pharmacy "Grigore T. Popa" - - - 2013
Launois-Bensaude syndrome (benign symmetric lipoma-tosis) is a rare disease characterized by symmetric fat deposits localized in the cervical region, shoulders and proximal parts of upper and lower limbs. We present the case of a 63-year-old male who presented the typical location of fatty masses and a history of chronic alcoholism ...
Ahmad S - - 2013
Acanthosis nigricans (AN) is characterized by non-inflamed, thick, brown-black pigmentation of the epidermis of the neck, dorsal hands and feet, axilla, umbilicus, knees, and elbows. It has been reported in both inherited as well as acquired forms (e.g., as a paraneoplastic syndrome). Most cases of AN have been described in ...
Weiss Ram - - 2013
Metabolic syndrome comprises a cluster of cardiovascular risk factors (hypertension, altered glucose metabolism, dyslipidemia, and abdominal obesity) that occur in obese children. However, metabolic syndrome can also occur in lean individuals, suggesting that obesity is a marker for the syndrome, not a cause. Metabolic syndrome is difficult to define, due ...
Kaur Harmeet - - 2013
Abstract Background: The alarming increase in the prevalence of metabolic syndrome globally demands serious attention. Recently, we reported increased cellular dysfunction of subcutaneous adipose tissue and monocytes contributing to the insulin resistance and increased inflammation in nascent metabolic syndrome. The major circulating leukocyte is the neutrophil (polymorphonuclear neutrophil, PMN). The ...
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 = ...
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 ...
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 ...
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 - - 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. ...
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 ...
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 ...
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. ...
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 ...
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 ...
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 ...
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