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https://www.readbyqxmd.com/read/28217037/lung-injury-induced-skeletal-muscle-wasting-in-aged-mice-is-linked-to-alterations-in-long-chain-fatty-acid-metabolism
#1
D Clark Files, Amro Ilaiwy, Traci L Parry, Kevin W Gibbs, Chun Liu, James R Bain, Osvaldo Delbono, Michael J Muehlbauer, Monte S Willis
INTRODUCTION: Older patients are more likely to acquire and die from acute respiratory distress syndrome (ARDS) and muscle weakness may be more clinically significant in older persons. Recent data implicate muscle ring finger protein 1 (MuRF1) in lung injury-induced skeletal muscle atrophy in young mice and identify an alternative role for MuRF1 in cardiac metabolism regulation through inhibition of fatty acid oxidation. OBJECTIVES: To develop a model of lung injury-induced muscle wasting in old mice and to evaluate the skeletal muscle metabolomic profile of adult and old acute lung injury (ALI) mice...
August 2016: Metabolomics: Official Journal of the Metabolomic Society
https://www.readbyqxmd.com/read/28213045/identification-of-the-causes-for-chronic-hypokalemia-importance-of-urinary-sodium-and-chloride-excretion
#2
Kun-Lin Wu, Chih-Jen Cheng, Chih-Chen Sung, Ming-Hua Tseng, Yu-Juei Hsu, Sung-Sen Yang, Tom Chau, Shih-Hua Lin
BACKGROUND: Uncovering the correct diagnosis of chronic hypokalemia with potassium (K(+)) wasting from the kidneys or gut can be fraught with challenges. We identified clinical and laboratory parameters helpful for differentiating the causes of chronic hypokalemia. METHODS: Normotensive patients referred to our tertiary academic medical center for the evaluation of chronic hypokalemia were prospectively enrolled over five years. Clinical features, laboratory examinations-including blood and spot urine electrolytes, acid-base status, biochemistries and hormones-as well as genetic analysis were determined...
February 14, 2017: American Journal of Medicine
https://www.readbyqxmd.com/read/28210640/muscle-weakness-a-misleading-presentation-in-children-with-distinctive-syndromic-entities-clinical-case-reports
#3
Ali Al Kaissi, Sergey Ryabykh, Polina Ochirova, Vladimir Kenis, Jochen G Hofstätter, Franz Grill, Rudolf Ganger, Susanne Gerit Kircher
Marked ligamentous hyperlaxity and muscle weakness/wasting associated with awkward gait are the main deficits confused with the diagnosis of myopathy. Seven children (6 boys and 1 girl with an average age of 8 years) were referred to our department because of diverse forms of skeletal abnormalities. No definitive diagnosis was made, and all underwent a series of sophisticated investigations in other institutes in favor of myopathy. We applied our methodology through the clinical and radiographic phenotypes followed by targeted genotypic confirmation...
January 2017: Journal of Investigative Medicine High Impact Case Reports
https://www.readbyqxmd.com/read/28207417/adrenarche-unmasks-compound-heterozygous-3%C3%AE-hydroxysteroid-dehydrogenase-deficiency-c-244g-a-p-ala82thr-and-the-novel-931c-t-p-gln311-variant-in-a-non-salt-wasting-severely-undervirilised-46xy
#4
Stephanie Louise Teasdale, Adam Morton
3β-Hydroxysteroid dehydrogenase type II deficiency (3βHSD2) congenital adrenal hyperplasia is a rare cause of ambiguous genitalia, resulting in abnormal virilisation in both 46XY and 46XX. We describe a case of 46XY ambiguous genitalia that was misdiagnosed as androgen insensitivity syndrome. The correct diagnosis was made after adrenarche. Genotyping demonstrated compound heterozygosity in two alleles, the previously described c.244G>A (p.Ala82Thr), and a novel 931C>T(p.Gln311*) variant. We suggest that adrenarche unmasked the condition by driving cortisol production to rates that caused the mutant 3bHSD2 enzyme to become rate limiting for cortisol production...
February 16, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28194285/cerebral-salt-wasting-syndrome-caused-by-minor-head-injury
#5
Toshiki Fukuoka, Yuko Tsurumi, Arihito Tsurumi
A 34-year-old woman was admitted to hospital after sustaining a head injury in a motor vehicle accident (day 1). No signs of neurological deficit, skull fracture, brain contusion, or intracranial bleeding were evident. She was discharged without symptoms on day 4. However, headache and nausea worsened on day 8, at which time serum sodium level was noted to be 121 mEq/L. Treatment with sodium chloride was initiated, but serum sodium decreased to 116 mEq/L on day 9. Body weight decreased in proportion to the decrease in serum sodium...
2017: Case Reports in Emergency Medicine
https://www.readbyqxmd.com/read/28193220/a-rare-case-of-multiple-phosphaturic-mesenchymal-tumors-along-a-tendon-sheath-inducing-osteomalacia
#6
Ryuta Arai, Tomohiro Onodera, Mohamad Alaa Terkawi, Tomoko Mitsuhashi, Eiji Kondo, Norimasa Iwasaki
BACKGROUND: Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome characterized by renal phosphate wasting, hypophosphatemia, reduction of 1,25-dihydroxyl vitamin D, and bone calcification disorders. Tumors associated with TIO are typically phosphaturic mesenchymal tumors that are bone and soft tissue origin and often present as a solitary tumor. The high production of fibroblast growth factor 23 (FGF23) by the tumor is believed to be the causative factor responsible for the impaired renal tubular phosphate reabsorption, hypophosphatemia and osteomalacia...
February 13, 2017: BMC Musculoskeletal Disorders
https://www.readbyqxmd.com/read/28185879/ctla4-ig-effectively-controls-immune-activation-and-inflammatory-disease-in-a-novel-murine-model-of-leaky-scid
#7
Stéphanie Humblet-Baron, Susann Schönefeldt, Josselyn Garcia-Perez, Frédéric Baron, Emanuela Pasciuto, Adrian Liston
BACKGROUND: Severe combined immunodeficiency (SCID) can be caused by loss-of-function mutations in genes involved in the DNA recombination machinery, such as RAG1, RAG2 or DCLRE1C. Defective DNA recombination causes a developmental block in T cells and B cells, resulting in high susceptibility to infections. Hypomorphic mutations in the same genes can also give a partial loss of T cells, in a spectrum including leaky SCID (LS) and Omenn syndrome (OS). These patients not only develop life-threatening infections due to immunodeficiency, but also develop inflammatory/autoimmune conditions due to the presence of autoreactive T cells...
February 6, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28177923/protein-calorie-malnutrition-nutritional-intervention-and-personalized-cancer-care
#8
Anju Gangadharan, Sung Eun Choi, Ahmed Hassan, Nehad M Ayoub, Gina Durante, Sakshi Balwani, Young Hee Kim, Andrew Pecora, Andre Goy, K Stephen Suh
Cancer patients often experience weight loss caused by protein calorie malnutrition (PCM) during the course of the disease or treatment. PCM is expressed as severe if the patient has two or more of the following characteristics: obvious significant muscle wasting, loss of subcutaneous fat; nutritional intake of <50% of recommended intake for 2 weeks or more; bedridden or otherwise significantly reduced functional capacity; weight loss of >2% in 1 week, 5% in 1 month, or 7.5% in 3 months. Cancer anorexia-cachexia syndrome (CACS) is a multifactorial condition of advanced PCM associated with underlying illness (in this case cancer) and is characterized by loss of muscle with or without loss of fat mass...
February 4, 2017: Oncotarget
https://www.readbyqxmd.com/read/28176463/severe-chronic-norovirus-diarrheal-disease-in-transplant-recipients-clinical-features-of-an-under-recognized-syndrome
#9
Robin K Avery, Bonnie E Lonze, Edward S Kraus, Kieren A Marr, Robert A Montgomery
BACKGROUND: Norovirus (NV) infection has been reported as a cause of severe chronic diarrhea in transplant recipients, but this entity remains under-recognized in clinical practice, leading to diagnostic delays. Transplant clinicians should become familiar with this syndrome in order to facilitate early detection and management. METHODS: Demographic, clinical, and outcomes variables were summarized from a series of transplant recipients with positive stool NV reverse transcription polymerase chain reaction (RT-PCR) assays at Johns Hopkins in 2013-2014...
February 7, 2017: Transplant Infectious Disease: An Official Journal of the Transplantation Society
https://www.readbyqxmd.com/read/28163111/a-compromised-liver-alters-polychlorinated-biphenyl-mediated-toxicity
#10
Banrida Wahlang, Jordan T Perkins, Michael C Petriello, Jessie B Hoffman, Arnold J Stromberg, Bernhard Hennig
Exposure to environmental toxicants namely polychlorinated biphenyls (PCBs) is correlated with multiple health disorders including liver and cardiovascular diseases. The liver is important for both xenobiotic and endobiotic metabolism. However, the responses of an injured liver to subsequent environmental insults has not been investigated. The current study aims to evaluate the role of a compromised liver in PCB-induced toxicity and define the implications on overall body homeostasis. Male C57Bl/6 mice were fed either an amino acid control diet (CD) or a methionine-choline deficient diet (MCD) during the 12-week study...
February 2, 2017: Toxicology
https://www.readbyqxmd.com/read/28148578/hypokalaemia-in-sj%C3%A3-gren-s-syndrome-the-missing-piece
#11
Umer Farooq Khan, Lee Chun Tsu, Kong-Bing Tan, Jingxiang Huang, Audrey LiAnn Wong
A 58-year-old Chinese woman with well controlled type 1 diabetes mellitus presented with acute and progressive bilateral lower limb weakness. Investigations revealed severe hypokalaemia (1.3 mmol/L) and hypophosphataemia (<0.32 mmol/L) with rhabdomyolysis and electrocardiogram changes, without other concurrent biochemical abnormalities. Immediate intravenous and oral potassium and phosphate replacement was initiated with objective improvement in weakness with replenished electrolyte levels. Urine studies confirmed renal potassium wasting...
February 2017: Clinical Medicine: Journal of the Royal College of Physicians of London
https://www.readbyqxmd.com/read/28147208/systemic-granulomatous-and-haemorrhagic-syndrome-in-new-zealand-dairy-cattle
#12
T G Rawdon, K N Buckle, K E Lawrence, K G Thompson, A F Julian, B L Vaatstra, A C Johnstone, J F Weston, R A Fairley
CASE HISTORY: Cases were obtained through passive surveillance reporting by veterinary pathologists, via the Ministry for Primary Industries Exotic Pest and Disease Hotline. They included ill or dead cows that had evidence of frank haemorrhage, petechial haemorrhages on mucous membranes, wasting or dermatitis of unknown cause, and were reported between 2009-2014. Affected cows (n=16) were from nine seasonally calving dairy farms, aged ≥3 years, and were predominantly in their mid-to-late non-lactating period...
February 1, 2017: New Zealand Veterinary Journal
https://www.readbyqxmd.com/read/28132973/non-granulomatous-myositis-in-a-patient-with-ulcerative-colitis-who-showed-symptoms-resembling-gastrocnemius-myalgia-syndrome
#13
Masayoshi Yamamoto, Manabu Inoue, Naoko Tachibana, Koji Tsuzaki, Yoko Shibata, Toshiaki Hamano
The patient was a 36-year-old man. His initial symptom was bilateral thigh and calf pain. When he developed ulcerative colitis in the following year, he also noticed wasting of the calf muscles. The clinical feature is similar to gastrocnemius myalgia syndrome, although the left upper limb was also involved. A high-intensity lesion in the left calf and soleus muscles was observed on MRI, which was lead to the diagnosis of non-granulomatous myositis with infiltration of CD68-positive cells based on muscle biopsy...
January 28, 2017: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/28132107/depletion-of-follicular-dendritic-cells-in-tonsils-collected-from-pmws-affected-pigs
#14
Giuseppe Marruchella, Luca Valbonetti, Nicola Bernabò, Ciriaco Ligios
Post-weaning multisystemic wasting syndrome (PMWS) is a relevant, worldwide disease caused by porcine circovirus type 2 (PCV2). Microscopically, PMWS is mainly characterized by lymphocytic depletion, macrophage infiltration and syncytia in lymphoid tissues. Some data suggest that follicular dendritic cells (FDCs) could be infected by PCV2, thus likely playing a role in the pathogenesis of PMWS. The present paper aims at assessing, qualitatively and quantitatively, the FDCs' network in the soft palate tonsils of clinically healthy and PMWS-affected pigs...
January 28, 2017: Archives of Virology
https://www.readbyqxmd.com/read/28130033/efficient-evaluation-of-humoral-immune-responses-by-the-use-of-serum-pools
#15
Louise Sternbæk, Anette H Draborg, Christoffer T Nielsen, Søren Jacobsen, Line V Iversen, Lone Troelsen, Elke Theander, Gunnar Houen
BACKGROUND: Collection and testing of individual serum samples are often used in research to gain knowledge about e.g. the humoral response against bacteria or virus. This is a valid but time-consuming method and might be a waste of valuable serum samples for inefficient research. So far, no study has considered using serum pools as a quick and efficient screening method to confirm or deny hypotheses. METHODS: We created serum pools from four different patient groups (systemic lupus erythematosus n=85, rheumatoid arthritis n=77, Sjögren's syndrome n=91, systemic sclerosis n=66) and one healthy control group (n=67)...
January 25, 2017: Journal of Immunological Methods
https://www.readbyqxmd.com/read/28125972/gitelman-syndrome-in-a-south-african-family-presenting-with-hypokalaemia-and-unusual-food-cravings
#16
Pieter Du Toit van der Merwe, Megan A Rensburg, William L Haylett, Soraya Bardien, M Razeen Davids
BACKGROUND: Gitelman syndrome (GS) is an autosomal recessive renal tubular disorder characterised by renal salt wasting with hypokalaemia, metabolic alkalosis, hypomagnesaemia and hypocalciuria. It is caused by mutations in SLC12A3 encoding the sodium-chloride cotransporter on the apical membrane of the distal convoluted tubule. We report a South African family with five affected individuals presenting with hypokalaemia and unusual food cravings. METHODS: The affected individuals and two unaffected first degree relatives were enrolled into the study...
January 26, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28119439/successful-treatment-of-tumour-induced-osteomalacia-after-resection-of-an-oral-peripheral-ossifying-fibroma
#17
Mark Anthony Santiago Sandoval, Majorie Amoroto Palermo, Ryner Carrillo, Rafael Bundoc, Jose Ma Carnate, Romelito Jose Galsim
Tumour-induced osteomalacia is a paraneoplastic syndrome wherein bone is affected by a hormone from a tumour that causes renal phosphate wasting and hypophosphataemia. Here, we present the case of a 31-year-old man who has been suffering from generalised bone pains and a spine deformity that led to loss of height. Pertinent findings are low serum phosphorus, low vitamin D and decreased bone mineral density. These findings led to a diagnosis of osteomalacia. However, the finding of an oral mass raised some questions as to what role it plays in the patient's disease...
January 24, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28114129/lipid-lowering-therapy-in-ckd-should-we-use-it-and-in-which-patients
#18
George A Kaysen
BACKGROUND: Chronic kidney disease is associated with a 15-fold increase in the risk of death and a 30-fold increase in the risk of cardiovascular events even prior to dialysis initiation, and this situation remains unchanged following the initiation of the dialysis procedure. Lipoprotein structure and function, especially the anti-oxidative properties of high-density lipoprotein, are altered. In this study, the effectiveness of lipid-lowering therapy on mortality and cardiovascular outcomes is explored...
January 24, 2017: Blood Purification
https://www.readbyqxmd.com/read/28110888/cerebral-salt-wasting-is-the-most-common-cause-of-hyponatremia-in-stroke
#19
Jayantee Kalita, Rajesh Kumar Singh, Usha Kant Misra
OBJECTIVE: The study aimed to evaluate the frequency, severity, and causes of hyponatremia in stroke and its influence on outcome. MATERIALS AND METHODS: Consecutive computed tomography- or magnetic resonance imaging-proven stroke patients within 7 days of stroke were included. Severity of stroke was assessed using the National Institute of Health Stroke Scale and consciousness using the Glasgow Coma Scale. Hyponatremia was defined if 2 consecutive serum sodium levels were <135 mEq/L and hypernatremia if >145 mEq/L...
January 16, 2017: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/28109116/aminoaciduria-caused-by-fanconi-syndrome-in-a-heifer
#20
N Cesbron, L Dorso, A-L Royer, G Dervilly-Pinel, J Hervé
A case study of renal tubular dysfunction consistent with idiopathic Fanconi syndrome is reported in an 18-month-old Holstein heifer. The clinical, biochemical, and histopathological features are described. The heifer had clinical signs of growth retardation, wasting, and persistent diarrhea. Biochemical blood analysis identified hypokalemia, hyponatremia, and hypochloremia. Urinalysis identified glycosuria, proteinuria, and acidic pH. Histological examination of the kidney disclosed mild tubular necrosis with proteinaceous casts in the lumina of renal tubules...
January 21, 2017: Journal of Veterinary Internal Medicine
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