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wasting syndrome

Heino F L Meyer-Bahlburg, Jazmin A Reyes-Portillo, Jananne Khuri, Anke A Ehrhardt, Maria I New
Stigma defined as "undesired differentness" (Goffman, 1963) and subtyped as "experienced" or "enacted," "anticipated," and "internalized" has been documented for patients with diverse chronic diseases. However, no systematic data exist on the association of stigma with somatic intersexuality. The current report concerns women with classical congenital adrenal hyperplasia (CAH), the most prevalent intersex syndrome, and provides descriptive data on CAH-related stigma as experienced in the general social environment (excluding medical settings and romantic/sexual partners) during childhood, adolescence, and adulthood...
September 27, 2016: Archives of Sexual Behavior
Ingrid H Philippens, Paul R Ormel, Guus Baarends, Maja Johansson, Ed J Remarque, Magnus Doverskog
BACKGROUND: The immune system is increasingly mentioned as a potential target for Alzheimer's disease (AD) treatment. OBJECTIVE: In the present pilot study, the effect of (neuro)inflammation on amyloidopathy was investigated in the marmoset monkey, which has potential as an AD animal model due to its natural cerebral amyloidosis similar to humans. METHODS: Six adult/aged marmosets (Callithrix jacchus) were intracranial injected with amyloid-beta (Aβ) fibrils at three cortical locations in the right hemisphere...
September 20, 2016: Journal of Alzheimer's Disease: JAD
Nikita Consul, Xiaotao Guo, Courtney Coker, Sara Lopez-Pintado, Hanina Hibshoosh, Binsheng Zhao, Kevin Kalinsky, Swarnali Acharyya
Cachexia, a wasting syndrome associated with advanced cancer and metastasis, is rarely documented in breast cancer patients. However, the incidence of cachexia in breast cancer is now thought to be largely underestimated. In our case report of a breast cancer patient with bone metastasis monitored during the course of her treatment, we document the development of cachexia by image analysis in relation to her metastatic burden. Elucidation of the link between metastatic burden and cachexia could unveil a highly specific screening process for metastasis, by assessing true muscle mass loss...
2016: Clinical Medicine Insights. Oncology
V Mishra Vineet, A Goyal Preeti, S Aggarwal Rohina, S Choudhary, Tanvir Tanvir, D Dharaiya Nisarg, A Gaddagi Rashmi
BACKGROUND: Acute kidney injury (AKI) is a clinical syndrome characterized by a sudden decline in glomerular filtration rate leading to decreased excretion of nitrogenous waste products. It continues to be a common problem in developing countries. AIMS: The aim of this study was to understand AKI characteristics in pregnancy and identify the factors related to its unfavorable outcome. STUDY DESIGN: A prospective cross-sectional study. METHODS: This prospective study was conducted between January 2013 and May 2014...
October 2016: Journal of Obstetrics and Gynaecology of India
Myriam L Rachid, Sophie Dreux, Isabelle Czerkiewicz, Georges Deschênes, Rosa Vargas-Poussou, Dominique Mahieu-Caputo, Jean-François Oury, Françoise Muller
Bartter syndrome is a severe inherited tubulopathy responsible for renal salt wasting, and hence electrolyte disorders and dehydration. Prenatally, it is characterized by severe polyhydramnios caused by fetal polyuria. We studied for the first time fetal urine in a Bartter syndrome case and demonstrated that the tubulopathy is already present at 24 weeks of gestation.
September 2016: Clinical Case Reports
S Dănescu, J Leppert, R Cosgarea, S Zurac, S Pop, A Baican, C Has
SAM syndrome (OMIM 615508), comprising severe dermatitis, multiple allergies and metabolic wasting, was first described by Samuelov et al in 2013(1) . Cutaneous findings consisted of congenital erythroderma, superficial skin erosions, fine scales and palmoplantar keratoderma and were accompanied by extracutaneous findings including perinatal hyponatremia, food allergies, elevated IgE levels, recurrent infections, metabolic wasting, malabsorbtion, esophageal reflux and eosinophilic esophagitis, cardiac defects, microcephaly and development delay (2,3) ...
September 15, 2016: Journal of the European Academy of Dermatology and Venereology: JEADV
N Elenga, M T Ggeorger-Sow, T Messiaen, I Lamaury, I Favre, M Nacher, G Beaucaire
The aim of this study was to investigate the mortality rate, risk factors and causes of death among HIV-infected patients in Guadeloupe from 1988 to 2009. We used Kaplan-Meier analysis to describe the survival trends and the Cox proportional hazard model to identify predictors of deaths in HIV-infected patients. Mortality rate and causes of death were compared among patients whose HIV diagnosis was made in two different study periods. There were 672 deaths recorded. The exact cause of death was clearly identified for 202 patients (35%)...
September 18, 2015: West Indian Medical Journal
Agnese Collamati, Emanuele Marzetti, Riccardo Calvani, Matteo Tosato, Emanuela D'Angelo, Alex N Sisto, Francesco Landi
Chronic heart failure (CHF) is a highly prevalent condition among the elderly and is associated with considerable morbidity, institutionalization and mortality. In its advanced stages, CHF is often accompanied by the loss of muscle mass and strength. Sarcopenia is a geriatric syndrome that has been actively studied in recent years due to its association with a wide range of adverse health outcomes. The goal of this review is to discuss the relationship between CHF and sarcopenia, with a focus on shared pathophysiological pathways and treatments...
July 2016: Journal of Geriatric Cardiology: JGC
Min Jeong Han, Soon Chul Kim, Chan Uhng Joo, Sun Jun Kim
RATIONALE FOR THIS CASE REPORT: Cerebral Salt-Wasting Syndrome (CSWS) is characterized by hyponatremia and sodium wasting in the urine. These conditions are triggered by various neurosurgical disorders such as subarachnoid hemorrhage, brain tumor, head injury, and brain surgery. To our knowledge, CSWS caused by Wernicke encephalopathy (WE) has been rarely reported. PRESENTING CONCERNS OF THE PATIENT: A 2-year-old male patient presented to our hospital due to a seizure attack...
September 2016: Medicine (Baltimore)
Wenna Liang, Xihai Li, Houhuang Chen, Xiang Shao, Xuejuan Lin, Jianying Shen, Shanshan Ding, Jie Kang, Candong Li
The temporomandibular joint (TMJ), a unique synovial joint whose development differs from that of other synovial joints, develops from two distinct mesenchymal condensations that grow toward each other and ossify through different mechanisms. The short stature homeobox 2 (Shox2) gene serves an important role in TMJ development and previous studies have demonstrated that Shox2SHOX KI/KI mice display a TMJ defective phenotype, congenital dysplasia and premature eroding of the articular disc, which is clinically defined as a TMJ disorder...
October 2016: Molecular Medicine Reports
Yang Quan-Jun, Huo Yan, Han Yong-Long, Wan Li-Li, Li Jie, Huang Jin-Lu, Lu Jin, Chen Peng-Guo, Gan Run, Guo Cheng
Cancer cachexia is a multifactorial syndrome affecting the skeletal muscle. Previous clinical trials showed MEK inhibitor selumetinib treatment resulted in skeletal muscle anabolism. However, it is conflicting that MAPK/ERK pathway control mass of skeletal muscle. The present study investigated the therapeutic effect and mechanisms of selumetinib in amelioration of cancer cachexia. The classical cancer cachexia model was established via transplantation of CT26 colon adenocarcinoma into BALB/c mice. The effect of selumetinib on body weight, tumor growth, skeletal muscle, food intake, serum proinflammatory cytokines, E3 ligases and MEK/ERK-related pathways was analyzed...
September 6, 2016: Molecular Cancer Therapeutics
Marco A Valdez-Flores, Rosa Vargas-Poussou, Sjoerd Verkaart, Omar A Z Tutakhel, Angel Valdez-Ortiz, Anne Blanchard, Cyrielle Treard, Joost G J Hoenderop, René J M Bindels, Sabina Jeleń
Gitelman syndrome (GS) is an autosomal recessive salt-wasting tubular disorder resulting from loss-of-function mutations in the thiazide-sensitive NaCl cotransporter (NCC). Functional analysis of these mutations has been limited to the use of Xenopus laevis oocytes. The aim of the present study was, therefore, to analyze the functional consequences of NCC mutations in a mammalian cell-based assay, followed by analysis of mutated NCC protein expression as well as glycosylation and phosphorylation profiles using human embryonic kidney (HEK) 293 cells...
August 31, 2016: American Journal of Physiology. Renal Physiology
Maria Czarina Acelajado, R Michael Culpepper, Wilburn D Bolton Iii
Introduction. Gitelman's syndrome (GS) is an autosomal recessive inherited defect in the thiazide-sensitive sodium-chloride cotransporter (NCCT) in the renal distal convoluted tubule. Physiologic changes of pregnancy promote renal potassium wasting, but serum potassium levels are kept in the physiologic range by increased levels of progesterone, which resist kaliuresis. In the presence of GS, this compensatory mechanism is easily overwhelmed, resulting in profound hypokalemia. We present a case of an 18-year-old primigravida with undiagnosed GS who presented with hyperemesis gravidarum in her 7th week of pregnancy...
2016: Case Reports in Medicine
Lluis Campins, Marcella Camps, Ariadna Riera, Eulogio Pleguezuelos, Juan Carlos Yebenes, Mateu Serra-Prat
Sarcopenia is a geriatric syndrome characterized by progressive and generalized loss of skeletal muscle mass and function. Reported prevalence of this geriatric syndrome, differs depending on the definition, the population and the method used to identify sarcopenia. The causes of sarcopenia are multifactorial, and can include genetic influence, immobility or disuse, endocrine factors, inflammation and nutritional deficiencies. These disorders involve an imbalance between anabolic and catabolic pathways that rules muscle mass...
August 31, 2016: Pharmacology
Maria Rohm, Michaela Schäfer, Victor Laurent, Bilgen Ekim Üstünel, Katharina Niopek, Carolyn Algire, Oksana Hautzinger, Tjeerd P Sijmonsma, Annika Zota, Dasa Medrikova, Natalia S Pellegata, Mikael Ryden, Agné Kulyte, Ingrid Dahlman, Peter Arner, Natasa Petrovic, Barbara Cannon, Ez-Zoubir Amri, Bruce E Kemp, Gregory R Steinberg, Petra Janovska, Jan Kopecky, Christian Wolfrum, Matthias Blüher, Mauricio Berriel Diaz, Stephan Herzig
Cachexia represents a fatal energy-wasting syndrome in a large number of patients with cancer that mostly results in a pathological loss of skeletal muscle and adipose tissue. Here we show that tumor cell exposure and tumor growth in mice triggered a futile energy-wasting cycle in cultured white adipocytes and white adipose tissue (WAT), respectively. Although uncoupling protein 1 (Ucp1)-dependent thermogenesis was dispensable for tumor-induced body wasting, WAT from cachectic mice and tumor-cell-supernatant-treated adipocytes were consistently characterized by the simultaneous induction of both lipolytic and lipogenic pathways...
October 2016: Nature Medicine
Mari Ohtaka, Yusuke Hattori, Yohei Kumano, Yoko Maeda, Takuya Kondo, Taku Mochizuki, Takashi Kawahara, Jun-Ichi Teranishi, Yasuhide Miyoshi, Yasushi Yumura, Hiroji Uemura
Hyponatremia is one of the common electrolyte disorders associated with cisplatin (CDDP) administration. We report here two cases of hyponatremia associated with CDDP. Case 1 : A 75-year-old man with urothelial carcinoma of bladder (cT3N1M0) underwent neoadjuvant chemotherapy with CDDP and gemcitabine. He lost consciousness on the eighth day after the chemotherapy. Blood tests showed severe hyponatremia (Na 113 mEq/l), low plasma osmolality and high level of plasma vasopressin. Urine tests showed low osmolality...
July 2016: Hinyokika Kiyo. Acta Urologica Japonica
Shigeru Takishima, Keisuke Nakajima, Risa Nomura, Atsumi Tsuji-Hosokawa, Nozomi Matsuda, Yohei Matsubara, Makoto Ono, Kentaro Miyai, Kei Takasawa, Tomohiro Morio, Yukihiro Hasegawa, Kenichi Kashimada
21-hydroxylase deficiency (21-OHD) is the most common type of congenital adrenal hyperplasia. In addition to the clinical problems caused by adrenal insufficiency and androgen excess, a risk for obesity and metabolic syndrome during young adulthood is a major ramification of the disease. Although glucocorticoid therapy is very likely to be one of the contributory factors, the precise causes of the metabolic status of adult 21-OHD patients remain to be clarified. Previously we reported that 21-OHD patients developed early onset AR, a condition which might create a risk for obesity and metabolic syndrome in adulthood...
August 19, 2016: Endocrine Journal
Harry P Selker, William S Harris, Charles E Rackley, Julian B Marsh, Robin Ruthazer, Joni R Beshansky, Eric J Rashba, Inga Peter, Lionel H Opie
AIMS: In the IMMEDIATE Trial, intravenous glucose-insulin-potassium (GIK) was started as early as possible for patients with suspected acute coronary syndrome by ambulance paramedics in communities. In the IMMEDIATE Biological Mechanism Cohort substudy, reported here, we investigated potential modes of GIK action on specific circulating metabolic components. Specific attention was given to suppression of circulating oxygen-wasting free fatty acids (FFAs) that had been posed as part of the early GIK action related to averting cardiac arrest...
August 2016: American Heart Journal
R André, A Gabrielli, E Laffitte, O Kherad
INTRODUCTION: Scurvy, or "Barlow's disease", is a widely described disease involving cutaneous and mucosal lesions resulting from vitamin C deficiency. Herein, we report a case of scurvy in a 48-year-old woman that was unusual in its atypical cutaneous-mucosal presentation as well as its association with anorexia nervosa. PATIENTS AND METHODS: A 48-year-old woman treated for depression for several years was admitted to hospital for her impaired general state of health...
August 5, 2016: Annales de Dermatologie et de Vénéréologie
Ola Abdelhadi, Daniela Iancu, Horia Stanescu, Robert Kleta, Detlef Bockenhauer
EAST syndrome is a recently described autosomal recessive disorder secondary to mutations in KCNJ10 (Kir4.1), a gene encoding a potassium channel expressed in the brain, eye, ear and kidney. This condition is characterized by 4 cardinal features; Epilepsy, Ataxia, Sensorineural deafness, and (a renal salt-wasting) Tubulopathy, hence the acronym EAST syndrome. Here we review reported clinical manifestations, in particular the neurological signs and symptoms which typically have the most impact on the quality of life of patients...
2016: Rare Diseases
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