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Mahida Saagar S Hôpital Cardiologique du Haut-Lévêque and Université Victor Segalen Bordeaux II, Bordeaux. Electronic address: - - 2014
The early repolarization (ER) pattern has historically been regarded as a benign ECG variant. However in recent years, this view has been challenged based on multiple reports linking the ER pattern with an increased risk of sudden cardiac death. The mechanistic basis of ventricular arrhythmogenesis in ER syndrome is presently ...
Halleux D - - 2014
We present a case of nephrotic syndrome in a 38-year-old man of Ivorian origin. In the search of the cause of his illness an infection with Plasmodium malariae (P. malariae) was diagnosed by serology and by microscopy of a Giemsa thin blood smear which revealed rare gametocytes of P. malariae. ...
Peng Zhaoyang Z Department of Nephrology, The Children's Hospital of Zhejiang University School of Medicine, Hangzhou, 310003, Zhejiang Province, - - 2014
Soluble urokinase plasminogen activator receptor (suPAR) has been regarded as a permeability factor in proteinuria, though its role in primary nephrotic syndrome remains to be elucidated further. Plasma samples and clinical information from 176 children with primary nephrotic syndrome were collected and concentrations of suPAR were measured. We evaluated the ...
Abu-Ouf Noran M NM Department of Pediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia. Electronic address: - - 2014
Metabolic syndrome is a common complication encountered in children surviving acute lymphoblastic leukaemia (ALL). Affected patients develop obesity, insulin resistance, hypertension, and hyperlipidemia. Metabolic syndrome is a consequence of multiple factors, particularly hormonal imbalance induced by various ALL treatments. This review aims to evaluate the risk factors and mechanisms leading ...
Dinicola Simona S Dept of Experimental Medicine, Systems Biology Group, University La Sapienza, Roma, - - 2014
PCOS is one of the most common endocrine disorders affecting women and it is characterized by a combination of hyper-androgenism, chronic anovulation, and insulin resistance. Whilst a significant progress has recently been made in the diagnosis for PCOS, the optimal infertility treatment remains to be determined. Two inositol isomers, Myo-inositol ...
Rumana Jubaida J Department of Pediatrics and Neonatology, Bangladesh Institute of Health Sciences and Hospital, Darus Salam, Mirpur, - - 2014
Steroid-resistant nephrotic syndrome (SRNS) patients are candidates for other alter-native drug regimes, and the non-responsiveness to steroid is more common among glomerulo-nephritides other than minimal change disease. Without performing biopsy and proper renal histology, progression of the disease cannot be assessed. Fractional excretion of magnesium (FE Mg) has been found ...
Hong Y-Y YY Department of Oral Pathology, Peking University School and Hospital of Stomatology, 22 Zhongguancun Avenue South, Haidian District, Beijing 100081, - - 2014
Keratocystic odontogenic tumors (KCOTs) are jaw lesions that can be either sporadic or associated with nevoid basal cell carcinoma syndrome, which typically occurs as multiple, aggressive lesions that can lead to large areas of bone destruction and resorption and cause major impairment and even jaw fracture. To clarify the role ...
Pereda Arrate - - 2014
Abstract Objectives: Given that tricho-rhino-phalangeal syndrome (TRPS) and pseudohypoparathyroidism/pseudopseudohypoparathyroidism (PHP/PPHP) are very rare monogenic disorders that share some features (distinctive facies, short stature, brachydactyly and, in some patients, intellectual disability) that lead to their misdiagnosis in some cases, our objective was to identify clinical, biochemical or radiological signs that could ...
Rénia Laurent L Singapore Immunology Network, Agency for Science, Technology and Research (A*STAR), Biopolis, 138648 Singapore. Electronic address: - - 2014
Malaria is responsible for over 500 million clinical cases and over 500000 deaths annually. Fatalities arise from a range of overlapping syndromes, such as cerebral malaria, whose pathogenesis is still incompletely understood. In a new study, Coban and colleagues provide new clues on the involvement of the olfactory bulb during ...
Patra Soumya - - 2014
Abstract Fanconi syndrome is a complex of multiple tubular dysfunctions of proximal tubular cells, occurring alone or in association with a variety of inherited (primary) or acquired (secondary) disorders. It is characterized by aminoaciduria, normoglycemic glycosuria, tubular proteinuria without hematuria, metabolic acidosis without anion gap and excessive urinary excretion of ...
Asl Zare Mohammad M Department of Urology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, IR - - 2014
Complete androgen insensitivity syndrome (previously called testicular feminization) is specified by a 46 XY karyotype and negative sex chromatin, bilateral undescended testes, female genitalia appearance, and lack of mullerian derivatives. A 28-year-old woman with complete (severe) androgen resistance underwent prophylactic laparoscopic bilateral gonadectomy because of the eventually increased risk of ...
Gougoutsi Alexandra A 1 Department of Internal Medicine, Tzaneio General Hospital , Piraeus, Greece - - 2014
Abstract In 2011, autochthonous Plasmodium vivax malaria emerged in a focal geographical area in Greece after importation by immigrants from the Indian subcontinent. We report the case of complicated P. vivax malaria in a previously healthy 42-year-old Greek female. The patient presented acute respiratory distress syndrome (ARDS), worsening jaundice, and ...
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 ...
Chandra Sadanandavalli Retnaswami SR Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, - - 2014
Pseudodystonia is the term used to define abnormal postures, which are not due to the disorders of the basal ganglia and is encountered very rarely in clinical practice and often difficult to distinguish from true dystonia syndromes. We report a rare case of a battered woman who was managed as ...
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 ...
Kanaan Ziad Z 0000-0001-5376-562X Department of Internal Medicine, Crittenton Hospital Medical Center, Wayne State University, Rochester, MI 48307, - - 2014
Sunitinib malate (Sutent, SU011248) is an oral multitargeted tyrosine kinase inhibitor (TKI) used for the treatment of metastatic renal cell carcinoma and imatinib (Gleevec)-resistant gastrointestinal stromal tumor (GIST) with few reported side effects including asthenia, myelosuppression, diarrhea, and mucositis. Scarce literature exists regarding the rare but often serious toxicities of ...
Zhang Yu Y Pediatric Intensive Care Unit, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology Wuhan, - - 2014
Posterior reversible encephalopathy syndrome (PRES) is a rare and serious syndrome of central nervous system that can develop in both adults and children. It is characterized by acute onset of headache, confusion, seizures or focal neurological deficits along with radiological findings of white matter abnormalities in the parietal and occipital ...
Küçükşahin Orhan O Department of Rheumatology, Ankara University Medical Faculty, Sihhiye, 06410 Ankara, - - 2014
We report the case of a male patient with limited cutaneous systemic sclerosis (SSc) that was complicated with severe digital ischemia, resistant to medical treatment. Due to the lack of treatment response, further laboratory and imaging studies were conducted. Findings were compatible with antiphospholipid syndrome and oral warfarin was added ...
Ladapo Taiwo Augustina TA Department of Paediatrics, College of Medicine, University of Lagos, PMB 12003, Lagos, Nigeria ; Department of Paediatrics, Lagos University Teaching Hospital, Idi-Araba, PMB 12003, Lagos, - - 2014
Recent reports from both Caucasian and black populations suggest changes in steroid responsiveness of childhood nephrotic syndrome. This study was therefore undertaken to determine the features and steroid sensitivity pattern of a cohort of black children with nephrotic syndrome. Records of children managed for nephrotic syndrome from January 2008 to ...
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 AJ Section of Paediatrics, Imperial College, Norfolk Place, London W2 1PG, UK. Electronic address: - - 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 R Department of Pediatrics, Hadassah Hebrew University School of Medicine, Jerusalem, - - 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 ...
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