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https://www.readbyqxmd.com/read/28544625/a-mutation-in-gabrb3-associated-with-dravet-syndrome
#1
Sy Vinh Le, Phan Hoang Truc Le, Thi Khanh Van Le, Thi Thuy Kieu Huynh, Thi Thu Hang Do
Dravet syndrome is a rare and severe type of epilepsy in infants. Approximately, 70-80% of patients with Dravet syndrome have mutations in SCN1A, the gene encoding the alpha-1 subunit of the sodium channel, while some simplex patients have variants in one of several other genes, including but not limited to GABRA1, SCN2A, STXBP1, GABRG2, and SCN1B. In this study, we performed exome sequencing in six patients with SCN1A-negative Dravet syndrome to identify other genes related to this disorder. In one affected individual, we detected a novel de novo heterozygous missense variant, c...
May 24, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28538700/stability-profiles-and-therapeutic-effect-of-cu-zn-superoxide-dismutase-chemically-coupled-to-o-quaternary-chitosan-derivatives-against-dextran-sodium-sulfate-induced-colitis
#2
Nan Zhao, Zhaolong Feng, Meng Shao, Jichao Cao, Fengshan Wang, Chunhui Liu
Superoxide dismutase (SOD) has attracted considerable attention on treatment of reactive oxygen species (ROS)-related disorders. We previously conjugated Cu/Zn SOD to O-quaternary chitosan derivatives (O-HTCC) to yield a polymer-enzyme conjugate O-HTCC-SOD that demonstrated superior therapeutic effect to native SOD. The present study demonstrated that O-HTCC-SOD had wider pH activity range, better thermal stability, excellent long-term stability for storage, as well as unique reinstatement of activity exposure to proteolytic degradation that was helpful for longer half-life in vivo...
May 24, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28538409/a-case-report-of-pedigree-of-a-homozygous-mutation-of-the-steroidogenic-acute-regulatory-protein-causing-lipoid-congenital-adrenal-hyperplasia
#3
Rong Fu, Lin Lu, Jun Jiang, Min Nie, Xiaojing Wang, Zhaolin Lu
RATIONALE: Lipoid congenital adrenal hyperplasia (LCAH) is extremely rare, but is the most fatal form of congenital adrenal hyperplasia resulting from mutations in the steroidogenic acute regulatory protein (STAR) gene. LCAH arises from severe defects in the conversion of cholesterol to pregnenolone, the precursor of all steroids. PATIENT CONCERNS: A case was reported that an 11-month-old Chinese girl who presented with a sex development disorder and hyponatremia...
May 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28533932/metabolic-parameters-and-responsiveness-of-isolated-iliac-artery-in-ldlr-mice-role-of-aerobic-exercise-training
#4
Nádia F Garcia, Amanda Cs Sponton, Maria A Delbin, Juliana M Parente, Michele M Castro, Angelina Zanesco, Camila de Moraes
Physical inactivity and dyslipidemia are considered risk factors for cardiovascular diseases. There are few studies evaluating the effects of physical exercise in small-caliber artery in a model that mimics familial hypercholesterolemia. The aim of this study was to examine the effect of exercise training, at moderate intensity, on metabolic parameters and iliac artery responsiveness in LDL(-/-) mice. Sedentary (SD) and trained (TR) mice performed AET (5 days/week, 60 minutes/day at 60-70% of maximum speed) during 8 weeks...
2017: American Journal of Cardiovascular Disease
https://www.readbyqxmd.com/read/28530638/sodium-channel-nav1-9-mutations-associated-with-insensitivity-to-pain-dampen-neuronal-excitability
#5
Jianying Huang, Carlos G Vanoye, Alison Cutts, Y Paul Goldberg, Sulayman D Dib-Hajj, Charles J Cohen, Stephen G Waxman, Alfred L George
Voltage-gated sodium channel (NaV) mutations cause genetic pain disorders that range from severe paroxysmal pain to a congenital inability to sense pain. Previous studies on NaV1.7 and NaV1.8 established clear relationships between perturbations in channel function and divergent clinical phenotypes. By contrast, studies of NaV1.9 mutations have not revealed a clear relationship of channel dysfunction with the associated and contrasting clinical phenotypes. Here, we have elucidated the functional consequences of a NaV1...
May 22, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28529799/new-m-m-3-arsenates-the-framework-structures-of-agm-3-haso4-2-m-3-al-ga-and-m-gaas2o7-m-na-ag
#6
Karolina Schwendtner, Uwe Kolitsch
The crystal structures of hydro-thermally synthesized silver(I) aluminium bis-[hydrogen arsenate(V)], AgAl(HAsO4)2, silver(I) gallium bis-[hydrogen arsenate(V)], AgGa(HAsO4)2, silver gallium diarsenate(V), AgGaAs2O7, and sodium gallium diarsenate(V), NaGaAs2O7, were determined from single-crystal X-ray diffraction data collected at room temperature. The first two compounds are representatives of the MCV-3 structure type known for KSc(HAsO4)2, which is characterized by a three-dimensional anionic framework of corner-sharing alternating M(3+)O6 octa-hedra (M = Al, Ga) and singly protonated AsO4 tetra-hedra...
May 1, 2017: Acta Crystallographica. Section E, Crystallographic Communications
https://www.readbyqxmd.com/read/28527083/shared-mechanisms-of-epilepsy-migraine-and-affective-disorders
#7
Davide Zarcone, Simona Corbetta
Since the nineteenth century several clinical features have been observed in common between migraine and epilepsy (such as episodic attacks, triggering factors, presence of aura, frequent familiarity), but only in recent years researchers have really engaged in finding a common pathogenic mechanism. From studies of disease incidence, we understand how either migraine among patients with epilepsy or epilepsy among migraine patients are more frequent than in the general population. This association may result from a direct causality, by the same environmental risk factors and/or by a common genetic susceptibility...
May 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28526927/sodium-thiosulphate-attenuates-brain-inflammation-induced-by-systemic-lipopolysaccharide-administration-in-c57bl-6j-mice
#8
Gonzalo Acero, Miryam Nava Catorce, Ricardo González-Mendoza, Marco Antonio Meraz-Rodríguez, Luis Fernando Hernández-Zimbron, Roberto González-Salinas, Goar Gevorkian
It has been demonstrated that peripheral infections accompanied by neuroinflammation may modify brain development or affect normal brain aging and represent major risk factors for the development of neurological disorders. A wide range of synthetic and natural compounds with anti-inflammatory properties have been evaluated in animal models of neuroinflammation and neurodegeneration as an adjuvant therapeutic strategy. In the present study we have demonstrated for the first time that sodium thiosulphate (STS), a known antidote approved for treatment of certain medical conditions, is capable of reducing brain inflammation caused by systemic LPS administration...
May 19, 2017: Inflammopharmacology
https://www.readbyqxmd.com/read/28523370/use-of-tolvaptan-vs-furosemide-in-older-patients-with-heart-failure-meta-analysis-of-randomized-controlled-trials
#9
W-L Huang, Y Yang, J Yang, J Yang, H-B Wang, X-L Xiong, Y-F Zhang
BACKGROUND: It is not known whether older patients with acute heart failure (HF) receiving tolvaptan have decreased mortality rates and a better long-term prognosis than patients who receive furosemide. We conducted a systematic review of randomized controlled trials (RCTs) to address this issue. METHODS: The Medline, Embase, and Cochrane Library databases were searched for English-language RCTs published before September 2016 comparing tolvaptan with furosemide treatment in older patients (>65 years old) after acute HF...
May 18, 2017: Herz
https://www.readbyqxmd.com/read/28522903/oxidative-stress-antioxidants-and-intestinal-calcium-absorption
#10
REVIEW
Gabriela Diaz de Barboza, Solange Guizzardi, Luciana Moine, Nori Tolosa de Talamoni
The disequilibrium between the production of reactive oxygen (ROS) and nitrogen (RNS) species and their elimination by protective mechanisms leads to oxidative stress. Mitochondria are the main source of ROS as by-products of electron transport chain. Most of the time the intestine responds adequately against the oxidative stress, but with aging or under conditions that exacerbate the ROS and/or RNS production, the defenses are not enough and contribute to developing intestinal pathologies. The endogenous antioxidant defense system in gut includes glutathione (GSH) and GSH-dependent enzymes as major components...
April 28, 2017: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/28522342/acute-and-repeated-exposure-with-the-nitric-oxide-no-donor-sodium-nitroprusside-snp-differentially-modulate-responses-in-a-rat-model-of-anxiety
#11
Martha A Orfanidou, Anastasios Lafioniatis, Aikaterini Trevlopoulou, Ntilara Touzlatzi, Nikolaos Pitsikas
The nitric oxide (NO) donor sodium nitroprusside (SNP) actually is under investigation for the treatment of schizophrenia. That anxiety disorders are noted to occur commonly in schizophrenia patients is known. Contradictory results were reported however, concerning the effects of SNP in animal models of anxiety disorders. The present study investigated the effects of acute and repeated administration of SNP on anxiety-like behaviour in rats assessed in the light/dark test. The effects of SNP on motility in a locomotor activity chamber were also investigated in rats...
May 15, 2017: Nitric Oxide: Biology and Chemistry
https://www.readbyqxmd.com/read/28521989/synthesis-of-strontium-chondroitin-sulfate-and-the-evaluation-of-its-capability-to-attenuate-osteoarthritis
#12
F B Ma, N Liu, N Hu, C Y Wen, B Tang
Osteoarthritis (OA) is the most prevalent musculoskeletal disorder and the leading cause of joint disability in elderly patients. In this study, we fabricated strontium chondroitin sulfate (SrCS), a new polysaccharide-metal ion complex that is the combination of chondroitin sulfate and strontium, which are two widely adopted chemicals in OA clinical management. The structural, chemical compositions and morphology of as-fabricated SrCS were systematically investigated. Cell proliferation test, RT-PCR and preliminary animal studies were conducted to evaluate the clinical potential of SrCS on OA treatment...
August 15, 2017: Carbohydrate Polymers
https://www.readbyqxmd.com/read/28512024/repurposing-of-proton-pump-inhibitors-as-first-identified-small-molecule-inhibitors-of-endo-%C3%AE-n-acetylglucosaminidase-engase-for-the-treatment-of-ngly1-deficiency-a-rare-genetic-disease
#13
Yiling Bi, Matthew Might, Hariprasad Vankayalapati, Balagurunathan Kuberan
N-Glycanase deficiency, or NGLY1 deficiency, is an extremely rare human genetic disease. N-Glycanase, encoded by the gene NGLY1, is an important enzyme involved in protein deglycosylation of misfolded proteins. Deglycosylation of misfolded proteins precedes the endoplasmic reticulum (ER)-associated degradation (ERAD) process. NGLY1 patients produce little or no N-glycanase (Ngly1), and the symptoms include global developmental delay, frequent seizures, complex hyperkinetic movement disorder, difficulty in swallowing/aspiration, liver dysfunction, and a lack of tears...
May 5, 2017: Bioorganic & Medicinal Chemistry Letters
https://www.readbyqxmd.com/read/28511406/effect-of-sodium-valproate-and-docosahexaenoic-acid-on-pain-in-rats
#14
REVIEW
Sushil Kiran Kunder, Laxminarayana Kurady Bairy, Avinash Arivazhahan
INTRODUCTION: Analgesics are commonly prescribed medications used to alleviate pain of various aetiologies without affecting the patient's consciousness. They interfere with the transmission of pain signals. A commonly used antiepileptic drug, sodium valproate has been used in various non-epileptic conditions like migraine prophylaxis and in the treatment of bipolar disorder because of the multiple mechanisms by which it acts. Docosahexanoic Acid (DHA), an omega 3 fatty acid, is known to possess analgesic activity...
March 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28511177/familial-hyperkalemia-and-hypertension-fhht-and-klhl3-description-of-a-family-with-a-new-recessive-mutation-s553l-compared-to-a-family-with-a-dominant-mutation-q309r-with-analysis-of-urinary-sodium-chloride-cotransporter
#15
Orit Kliuk-Ben Bassat, Vered Carmon, Aaron Hanukoglu, Liat Ganon, Eias Massalha, Eliezer J Holtzman, Zvi Farfel, Haim Mayan
BACKGROUND: Familial hyperkalemia and hypertension (FHHt) is an inherited disorder manifested by hyperkalemia and hypertension. The following four causative genes were identified: WNK1, WNK4, CUL3, and KLHL3. For the first 3 genes, inheritance is autosomal dominant. For KLHL3, inheritance is mostly dominant. A few cases with autosomal recessive disease were described. The mechanism of these 2 modes of inheritance is not clear. In the recessive form, the phenotype of heterozygotes is not well described...
May 17, 2017: Nephron
https://www.readbyqxmd.com/read/28509122/severe-hyponatremia-in-a-patient-with-schizophrenia-associated-with-prolonged-consciousness-disturbance
#16
Kunihiko Yasuda, Takatsugu Iwashita, Yosuke Tayama, Yuko Makino, Ayumu Watanabe, Tatsuro Sano, Taisuke Shimizu, Tomonari Ogawa, Koichi Kanozawa, Hajime Hasegawa
Hyponatremia presents with various central nervous system symptoms during its course and treatment. We treated a patient who presented with a prolonged consciousness disorder and was suspected of having complications of neuroleptic malignant syndrome and osmotic demyelination syndrome (ODS) during the treatment for his hyponatremia, which was caused by syndrome of inappropriate secretion of antidiuretic hormone (SIADH). The patient was a 30-year-old Japanese man who had been under treatment for schizophrenia...
May 2017: CEN Case Reports
https://www.readbyqxmd.com/read/28504618/butyrate-reduces-high-fat-diet-induced-metabolic-alterations-hepatic-steatosis-and-pancreatic-beta-cell-and-intestinal-barrier-dysfunctions-in-prediabetic-mice
#17
V A Matheus, Lcs Monteiro, R B Oliveira, D A Maschio, C B Collares-Buzato
In this study, we investigated the effect of diet supplementation with sodium butyrate (5% w/w), a short-chain fatty acid produced by the intestinal microbiota, on metabolic parameters, body adiposity, hepatic and pancreatic lipid accumulation, beta cell function/mass as well as on the structure and function of the tight junction-mediated intestinal epithelial barrier in both normal and obese/prediabetic C57 mice fed a regular (control) or high-fat diet for 60 days, respectively. Butyrate treatment significantly inhibited all the high-fat-induced metabolic dysfunctions evaluated, i...
January 1, 2017: Experimental Biology and Medicine
https://www.readbyqxmd.com/read/28502906/anti-inflammatory-effects-of-forsythia-suspensa-in-dextran-sulfate-sodium-induced-colitis
#18
Youn-Hwan Hwang, Dong-Gun Kim, Wei Li, Hye Jin Yang, Nam-Hui Yim, Jin Yeul Ma
ETHNOPHARMACOLOGICAL RELEVANCE: Forsythia suspensa Fructus (FS) is used to treat various inflammatory disorders in traditional Oriental medicine, including gastrointestinal diseases, but its therapeutic potential in ulcerative colitis is unclear. Thus, we investigated any potential therapeutic effects of FS against intestinal inflammation and the bioactive constituents in FS. MATERIALS AND METHODS: After the induction of colitis using 3% dextran sulfate sodium, FS (100mg/kg/day) was administered orally during the experimental period...
May 11, 2017: Journal of Ethnopharmacology
https://www.readbyqxmd.com/read/28501929/hyponatremia-associated-with-human-herpesvirus-6-hhv-6-encephalitis-after-allogeneic-hematopoietic-stem-cell-transplantation-a-presentation-different-from-hhv-6-myelitis
#19
Koichi Murakami, Sumiko Kohashi, Masatoshi Sakurai, Jun Kato, Takaaki Toyama, Yuya Koda, Yusuke Yamane, Risa Hashida, Ryohei Abe, Rie Yamazaki, Taku Kikuchi, Takayuki Shimizu, Shigeaki Suzuki, Naoki Hasegawa, Shinichiro Okamoto, Takehiko Mori
Human herpesvirus-6 (HHV-6) encephalitis and myelitis following allogeneic hematopoietic stem cell transplantation (HSCT) is frequently life-threatening. We retrospectively evaluated the clinical significance of hyponatremia in cases of HHV-6 encephalitis/myelitis. Using an institutional database and medical records, we identified and retrospectively analyzed 16 cases of HHV-6 encephalitis and/or myelitis after allogeneic HSCT. HHV-6 encephalitis and myelitis were defined as the symptoms/signs with HHV-6-DNA in the cerebrospinal fluid...
May 13, 2017: International Journal of Hematology
https://www.readbyqxmd.com/read/28499269/identification-of-novel-serotonin-reuptake-inhibitors-targeting-central-and-allosteric-binding-sites-a-virtual-screening-and-molecular-dynamics-simulations-study
#20
Ismail Erol, Busecan Aksoydan, Isik Kantarcioglu, Ramin E Salmas, Serdar Durdagi
The serotonin (5-hydroxytryptamine, 5HT) transporter (SERT) is a member of neurotransmitter sodium symporter (NSS) family, which maintains neurotransmitter by reuptaking 5HT into synapses. Decrease in serotonin concentrations in synaptic clefts have been reported to cause psychological and neurological disorders. Therefore, inhibition of SERT is a potent strategy for the treatment of related diseases such as depression. In this study, approximately 260,000 small molecules from an available chemical database have been virtually screened both at central and allosteric binding sites of SERT to identify potent novel candidate SERT inhibitors...
March 22, 2017: Journal of Molecular Graphics & Modelling
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