keyword
MENU ▼
Read by QxMD icon Read
search

wasting syndrome

keyword
https://www.readbyqxmd.com/read/29791932/b3galnt2-related-dystroglycanopathy-expansion-of-the-phenotype-with-novel-mutation-associated-with-muscle-eye-brain-disease-walker-warburg-syndrome-epileptic-encephalopathy-west-syndrome-and-sensorineural-hearing-loss
#1
Muna A Al Dhaibani, Ayman W El-Hattab, Omar Ismayl, Jehan Suleiman
Mutations in B3GALNT2 , encoding a glycosyltransferase enzyme involved in α-dystroglycan glycosylation, have been recently associated with dystroglycanopathy, a well-recognized subtype of congenital muscular dystrophy (CMD). Only a few cases have been reported with B3GALNT2 -related dystroglycanopathy with variable severity ranging from mild CMD to severe muscle-eye-brain disease. Here, we describe a child with a novel homozygous nonsense mutation in B3GALNT2 . The affected child has severe neurological disease since birth, including muscle disease manifested as hypotonia, muscle weakness, and wasting with elevated creatine kinase, eye disease including microphthalmia and blindness, brain disease with extensive brain malformations including massive hydrocephalus, diffuse cobblestone-lissencephaly, deformed craniocervical junction, and pontocerebellar hypoplasia...
May 23, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29791908/a-de-novo-kcna1-mutation-in-a-patient-with-tetany-and-hypomagnesemia
#2
Jenny van der Wijst, Martin Konrad, Sjoerd A J Verkaart, Marcin Tkaczyk, Femke Latta, Janine Altmüller, Holger Thiele, Bodo Beck, Karl Peter Schlingmann, Jeroen H F de Baaij
Mutations in the KCNA1 gene encoding the voltage-gated potassium (K+) channel Kv1.1 have been linked to rare neurological syndromes, episodic ataxia type 1 (EA1) and myokymia. In 2009, a KCNA1 mutation was identified in a large family with autosomal dominant hypomagnesemia. Despite efforts in establishing a genotype-phenotype correlation for the wide variety of symptoms in EA1, little is known on the serum magnesium (Mg2+) levels in these patients. In the present study, we describe a new de novo KCNA1 mutation in a Polish patient with tetany and hypomagnesemia...
May 23, 2018: Nephron
https://www.readbyqxmd.com/read/29786180/-bartter-syndrome-severe-rare-orphan-kidney-disease-a-step-towards-therapy-through-pharmacogenetic-and-epidemiological-studies
#3
EDITORIAL
Elena Conte, Paola Imbrici, Dalila Sahbani, Antonella Liantonio, Diana Conte
Bartter syndromes (BS) types 1-5 are rare salt-losing tubulopathies presenting with overlapping clinical phenotypes including marked salt wasting and hypokalemia leading to polyuria, polydipsia, volume contraction, muscle weakness and growth retardation. These diseases are due to an impairment of sodium, potassium, chloride reabsorption caused by mutations in genes encoding for ion channel or transporters expressed in specific nephron tubule segments. Particularly, BS type 3 is a clinically heterogeneous form caused by mutations in CLCNKB gene which encodes the ClC-Kb chloride channel involved in NaCl reabsorption in the renal tubule...
May 2018: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
https://www.readbyqxmd.com/read/29785246/modulating-metabolism-to-improve-cancer-induced-muscle-wasting
#4
REVIEW
Fabio Penna, Riccardo Ballarò, Marc Beltrá, Serena De Lucia, Paola Costelli
Muscle wasting is one of the main features of cancer cachexia, a multifactorial syndrome frequently occurring in oncologic patients. The onset of cachexia is associated with reduced tolerance and response to antineoplastic treatments, eventually leading to clinical conditions that are not compatible with survival. Among the mechanisms underlying cachexia, protein and energy dysmetabolism play a major role. In this regard, several potential treatments have been proposed, mainly on the basis of promising results obtained in preclinical models...
2018: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/29761653/detection-of-porcine-circovirus-like-virus-p1-in-hebei-china
#5
L Wen, A Mao, F Jiao, D Zhang, J Xie, K He
Porcine circovirus-like virus P1 is a novel unclassified circovirus that was first detected in China and may be associated with post-weaning multisystemic wasting syndrome (PMWS) and congenital tremor. In this study, we detected P1 infection in pigs in Hebei Province, China, in 2017. One hundred and forty of 500 (28.0%) serum samples from 25 pig farms with different PMWS status in seven cities were P1 positive on PCR. Twelve P1 strains were sequenced, and the complete genomes of 11 P1 strains were 648 nucleotides (nt) in length, whereas that of strain ZJK02 was 647 nt, with a G deletion at position of 183 in its genome...
May 14, 2018: Transboundary and Emerging Diseases
https://www.readbyqxmd.com/read/29761372/outcomes-of-takotsubo-cardiomyopathy-in-hospitalized-cancer-patients
#6
Parijat Saurav Joy, Achuta Kumar Guddati, Iuliana Shapira
BACKGROUND: Chemotherapy-induced cardiomyopathy is a critical complication of treatment for cancer. The emotional stress of a cancer diagnosis, ongoing chemotherapy, abnormal cancer-related wasting syndrome may contribute to cardiac morbidity in these patients. The burden of Takotsubo Cardiomyopathy (TCM) in cancer patients is unknown. The incidence of TCM and related outcomes in cancer patients was investigated in this study. METHODS: The 2007-2013 National Inpatient Sample (NIS) was analyzed for patients with a prior and new diagnosis of TCM with and without malignancy...
May 14, 2018: Journal of Cancer Research and Clinical Oncology
https://www.readbyqxmd.com/read/29745361/a-window-beneath-the-skin-how-computed-tomography-assessment-of-body-composition-can-assist-in-the-identification-of-hidden-wasting-conditions-in-oncology-that-profoundly-impact-outcomes
#7
L E Daly, C M Prado, A M Ryan
Advancements in image-based technologies and body composition research over the past decade has led to increased understanding of the importance of muscle abnormalities, such as low muscle mass (sarcopenia), and more recently low muscle attenuation (MA), as important prognostic indicators of unfavourable outcomes in patients with cancer. Muscle abnormalities can be highly prevalent in patients with cancer (ranging between 10 and 90 %), depending on the cohort under investigation and diagnostic criteria used...
May 2018: Proceedings of the Nutrition Society
https://www.readbyqxmd.com/read/29737795/the-anti-wasting-effects-of-l-carnitine-supplementation-on-cancer-experimental-data-and-clinical-studies
#8
Mahsa Esfahani, Sahar Sahafi, Ali Derakhshandeh, Azadeh Moghaddas
BACKGROUND AND OBJECTIVES: Cachexia is a paraneoplastic syndrome that affects the large majority of patients with end-stage cancer. No known therapy exists to effectively overcome the severe symptoms of cachexia, which include anorexia, weight loss and fatigue. This study considered the results of both experimental and clinical studies to evaluate the suitability of L-carnitine and its derivatives as potential therapies for cachexia in patients with cancer. METHODS AND STUDY DESIGN: All available English-language papers on the use of L-carnitine in patients with cachexia related to cancer, including reviews, case reports, case series, and clinical trials, were obtained by searching multiple databases, including all Elsevier publications, Web of Knowledge, PubMed, Scopus, clinical trials, and the Cochrane database of systematic reviews...
2018: Asia Pacific Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/29737001/clinical-and-functional-characterization-of-two-novel-zbtb20-mutations-causing-primrose-syndrome
#9
Emilia Stellacci, Katharina Steindl, Pascal Joset, Laura Mercurio, Massimiliano Anselmi, Serena Cecchetti, Laura Gogoll, Markus Zweier, Annette Hackenberg, Gianfranco Bocchinfuso, Lorenzo Stella, Marco Tartaglia, Anita Rauch
Primrose syndrome (PS) is a rare disorder characterized by macrocephaly, tall stature, intellectual disability, autistic traits, and disturbances of glucose metabolism with insulin-resistant diabetes and distal muscle wasting occurring in adulthood. The disorder is caused by functional dysregulation of ZBTB20, a transcriptional repressor controlling energetic metabolism and developmental programs. ZBTB20 maps in a genomic region that is deleted in the 3q13.31 microdeletion syndrome, which explains the clinical overlap between the two disorders...
May 7, 2018: Human Mutation
https://www.readbyqxmd.com/read/29735496/glucosuria-without-diabetes-key-to-the-diagnosis-of-fragility-fractures-due-to-fanconi-syndrome
#10
Lilluck F Alacapa, Mark Anthony Santiago Sandoval, Coralie Therese D Dimacali, Nathaniel Jr S Orillaza
A 64-year-old woman had fragility fractures which caused her to have gross deformities and confined her to bed. These were initially ascribed to vitamin D deficiency. However, despite correction of the deficiency, she did not improve. A review of previous records already showed glucosuria in the absence of diabetes, but this finding was overlooked. Eight years into the disease, it was realised that the glucosuria despite normal blood sugar could also mean that the patient was losing other substances needed for proper bone formation...
May 7, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29734195/tenascin-x-congenital-adrenal-hyperplasia-and-the-cah-x-syndrome
#11
Walter L Miller, Deborah P Merke
Mutations of the CYP21A2 gene encoding adrenal 21-hydroxylase cause congenital adrenal hyperplasia (CAH). The CYP21A2 gene is partially overlapped by the TNXB gene, which encodes an extracellular matrix protein called Tenascin-X (TNX). Mutations affecting both alleles of TNXB cause a severe, autosomal recessive form of Ehlers-Danlos syndrome (EDS). Rarely, patients with severe, salt-wasting CAH have deletions of CYP21A2 that extend into TNXB, resulting in a "contiguous gene syndrome" consisting of CAH and EDS...
May 7, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29734150/association-between-increases-in-normalized-protein-catabolic-rate-and-increases-in-creatinine-generation-rate-in-dialysis-patients
#12
Norio Hanafusa, Daigo Kamei, Misao Tsukada, Naoko Miwa, Mizuki Komatsu, Shunji Shiohira, Masayuki Okazaki, Ryota Watanabe, Hiroshi Kawaguchi, Ken Tsuchiya, Kosaku Nitta
The older dialysis population is growing, and malnutrition and wasting syndrome are great concerns in this population. The management of these syndromes includes appropriate nutritional intake and physical activity. However, whether management in the form of an increase in protein intake has a beneficial effect on muscle mass has not been demonstrated. In this study, we investigated an association between changes of normalized protein catabolic rate (nPCR), as a proxy for protein intake and percent creatinine generation rate (%CGR), as a proxy for muscle mass in patients receiving hemodialysis...
2018: Contributions to Nephrology
https://www.readbyqxmd.com/read/29730308/in-vitro-and-in-silico-studies-reveal-capsid-mutant-porcine-circovirus-2b-with-novel-cytopathogenic-and-structural-characteristics
#13
Taís Fukuta Cruz, Angelo José Magro, Alessandra M M G de Castro, Francisco J Pedraza-Ordoñez, Miriam Harumi Tsunemi, David Perahia, João Pessoa Araújo
Porcine circovirus 2 (PCV2) is an icosahedral, non-enveloped, and single-stranded circular DNA virus that belongs to the family Circoviridae, genus Circovirus, and is responsible for a complex of different diseases defined as porcine circovirus diseases (PCVDs). These diseases - including postweaning multisystemic wasting syndrome (PMWS), enteric disease, respiratory disease, porcine dermatitis and nephropathy syndrome (PDNS), and reproductive failure - are responsible for large economic losses in the pig industry...
May 3, 2018: Virus Research
https://www.readbyqxmd.com/read/29727365/evaluating-muscle-mass-in-survivors-of-acute-respiratory-distress-syndrome-a-1-year-multicenter-longitudinal-study
#14
Kitty S Chan, Marina Mourtzakis, Lisa Aronson Friedman, Victor D Dinglas, Catherine L Hough, E Wesley Ely, Peter E Morris, Ramona O Hopkins, Dale M Needham
OBJECTIVES: Rapid muscle wasting occurs during acute respiratory failure, resulting in muscle weakness and functional impairments. This study examines survivors' body composition in the year after acute respiratory distress syndrome and tests associations of patient characteristics, hospital exposures, and survivors' strength and physical functioning with whole body percent lean mass. DESIGN: Prospective cohort study with 6- and 12-month follow-up. SETTING: National study enrolling patients from five study centers...
May 4, 2018: Critical Care Medicine
https://www.readbyqxmd.com/read/29721271/reduction-and-recovery-of-keystone-predation-pressure-after-disease-related-mass-mortality
#15
Monica M Moritsch, Peter T Raimondi
Disturbances such as disease can reshape communities through interruption of ecological interactions. Changes to population demographics alter how effectively a species performs its ecological role. While a population may recover in density, this may not translate to recovery of ecological function. In 2013, a sea star wasting syndrome outbreak caused mass mortality of the keystone predator Pisaster ochraceus on the North American Pacific coast. We analyzed sea star counts, biomass, size distributions, and recruitment from long-term intertidal monitoring sites from San Diego to Alaska to assess regional trends in sea star recovery following the outbreak...
April 2018: Ecology and Evolution
https://www.readbyqxmd.com/read/29708864/first-time-detection-of-porcine-reproductive-and-respiratory-syndrome-virus-and-porcine-circovirus-2-in-an-albanian-farrow-to-finish-herd
#16
Vasileios G Papatsiros, Serafeim C Chaintoutis, Dimitra Psalla, Georgios G Maragkakis, Georgios Christodoulopoulos, Chrysostomos I Dovas
The purpose of this case report is to describe for the first time concurrent porcine reproductive and respiratory syndrome virus (PRRSV) and porcine circovirus 2 (PCV-2) infections in a commercial farrow-to-finish pig farm in Albania, as well as the phylogenetical analysis of isolated PRRSV strain. The present study reports on a farrow-to-finish commercial pig farm, located in South Albania. In a percentage of about 40% of weaners in each batch (60-70 piglets per batch), clinical signs, including fever, severe respiratory signs, wasting, jaundice, rough hairy coat, palpable inguinal lymphadenopathy, and high mortality rate, were performed...
April 30, 2018: Viral Immunology
https://www.readbyqxmd.com/read/29707907/secondary-hyperparathyroidism-and-protein-energy-wasting-in-end-stage-renal-disease
#17
REVIEW
Hirotaka Komaba, Masafumi Fukagawa
Protein-energy wasting (PEW), a syndrome involving adverse changes in nutrition and body composition, is a serious problem associated with morbidity and mortality in patients with end-stage renal disease (ESRD). The pathogenesis of PEW is multifactorial, and the underlying mechanisms are not fully understood. However, recent translational work has provided compelling evidence for a causal role of parathyroid hormone (PTH) in the pathogenesis of adipose tissue browning and increased energy expenditure, a critical component of PEW in ESRD...
April 30, 2018: Therapeutic Apheresis and Dialysis
https://www.readbyqxmd.com/read/29696242/fibroblast-growth-factor-23-induced-hypophosphatemia-in-acute-leukemia
#18
Rachel B Reinert, Dale Bixby, Ronald J Koenig
Fibroblast growth factor 23 (FGF23)-induced hypophosphatemia is a rare paraneoplastic syndrome of phosphate wasting that, if unrecognized, may cause tumor-induced osteomalacia. It is classically associated with benign mesenchymal tumors but occasionally has been found in patients with other malignancies. Hypophosphatemia has been associated with acute leukemia but has not previously been reported to be due to inappropriate FGF23 secretion. Here, we describe FGF23-induced severe hypophosphatemia and renal phosphate wasting associated with a mixed-phenotype Philadelphia chromosome-like acute leukemia in a previously healthy 22-year-old man...
May 1, 2018: Journal of the Endocrine Society
https://www.readbyqxmd.com/read/29688489/protective-role-of-the-lipid-phosphatase-fig4-in-the-adult-nervous-system
#19
Yevgeniya A Mironova, Jing-Ping Lin, Ashley Kalinski, Lucas Huffman, Guy M Lenk, Leif A Havton, Miriam H Meisler, Roman J Giger
The signaling lipid phosphatidylinositol 3,5-bisphosphate, PI(3,5)P2, functions in vesicular trafficking through the endo-lysosomal compartment. Cellular levels of PI(3,5)P2 are regulated by an enzyme complex comprised of the kinase PIKFYVE, the phosphatase FIG4, and the scaffold protein VAC14. Mutations of human FIG4 cause inherited disorders including Charcot-Marie-Tooth disease type 4J, polymicrogyria with epilepsy, and Yunis-Varón syndrome. Constitutive Fig4-/- mice exhibit intention tremor, spongiform degeneration of neural tissue, hypomyelination, and juvenile lethality...
April 24, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29682162/metabolic-alterations-in-a-slow-paced-model-of-pancreatic-cancer-induced-wasting
#20
Elisabeth Wyart, Simone Reano, Myriam Y Hsu, Dario Livio Longo, Mingchuan Li, Emilio Hirsch, Nicoletta Filigheddu, Alessandra Ghigo, Chiara Riganti, Paolo Ettore Porporato
Cancer cachexia is a devastating syndrome occurring in the majority of terminally ill cancer patients. Notably, skeletal muscle atrophy is a consistent feature affecting the quality of life and prognosis. To date, limited therapeutic options are available, and research in the field is hampered by the lack of satisfactory models to study the complexity of wasting in cachexia-inducing tumors, such as pancreatic cancer. Moreover, currently used in vivo models are characterized by an explosive cachexia with a lethal wasting within few days, while pancreatic cancer patients might experience alterations long before the onset of overt wasting...
2018: Oxidative Medicine and Cellular Longevity
keyword
keyword
100459
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"