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https://www.readbyqxmd.com/read/29772390/pathobiology-of-christianson-syndrome-linking-disrupted-endosomal-lysosomal-function-with-intellectual-disability-and-sensory-impairments
#1
Mallory Kerner-Rossi, Maria Gulinello, Steven Walkley, Kostantin Dobrenis
Christianson syndrome (CS) is a recently described rare neurogenetic disorder presenting early in life with a broad range of neurological symptoms, including severe intellectual disability with nonverbal status, hyperactivity, epilepsy, and progressive ataxia due to cerebellar atrophy. CS is due to loss-of-function mutations in SLC9A6, encoding NHE6, a sodium-hydrogen exchanger involved in the regulation of early endosomal pH. Here we review what is currently known about the neuropathogenesis of CS, based on insights from experimental models, which to date have focused on mechanisms that affect the CNS, specifically the brain...
May 14, 2018: Neurobiology of Learning and Memory
https://www.readbyqxmd.com/read/29771807/administration-of-an-oral-hydration-solution-prevents-electrolyte-and-fluid-disturbances-and-reduces-readmissions-in-patients-with-a-diverting-ileostomy-after-colorectal-surgery-a-prospective-randomized-controlled-trial
#2
Athanasios Migdanis, Georgios Koukoulis, Ioannis Mamaloudis, Ioannis Baloyiannis, Ioannis Migdanis, Maria Kanaki, Eleni Malissiova, Georgios Tzovaras
BACKGROUND: Patients with a newly formed ileostomy often develop electrolyte abnormalities and dehydration. OBJECTIVE: The study assessed the prophylactic effect of an isotonic hydration solution on dehydration and electrolyte abnormalities in patients with a newly formed ileostomy. DESIGN: This was a prospective, randomized, controlled trial (NCT02036346). SETTINGS: The study was conducted at a single surgical unit of a public university hospital...
May 15, 2018: Diseases of the Colon and Rectum
https://www.readbyqxmd.com/read/29767557/polycystin-1-dysfunction-impairs-electrolyte-and-water-handling-in-a-renal-pre-cystic-mouse-model-for-adpkd
#3
Eric H J Verschuren, Sami G Mohammed, Wouter N Leonhard, Caro Overmars-Bos, Kimberly A M Veraar, Joost G J Hoenderop, René J M Bindels, Dorien J M Peters, Francisco J Arjona
The PKD1 gene encodes polycystin-1 (PC1), a mechanosensor triggering intracellular responses upon urinary flow sensing in kidney tubular cells. Mutations in PKD1 lead to autosomal dominant polycystic kidney disease (ADPKD). The involvement of PC1 in renal electrolyte handling remains unknown since renal electrolyte physiology in ADPKD patients has only been characterized in cystic ADPKD. We thus studied the renal electrolyte handling in inducible kidney-specific Pkd1 knockout (iKsp-Pkd1-/-) mice manifesting a pre-cystic phenotype...
May 16, 2018: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/29757121/management-of-electrolyte-disorders-also-the-method-matters
#4
Joris Richard Delanghe
INTRODUCTION: For the last few decades, electrolyte determinations in plasma or serum are carried out by reliable potentiometric methods. In recent years, a marked technical evolution has taken place, where the clinical analysis of common analytes (e.g. electrolytes) is partly moving from centralised clinical core laboratories to near-patient point-of-care testing. METHODS: As the measuring principle used by point-of-care testing markedly differs from the one used in core laboratories, sodium results are not always interchangeable in critically ill patients due to the different sensitivity of the analytical methods for the electrolyte exclusion effect...
May 14, 2018: Acta Clinica Belgica
https://www.readbyqxmd.com/read/29746361/prolonged-qrs-widening-after-aripiprazole-overdose
#5
Maryann Mazer-Amirshahi, Robert Porter, Kayla Dewey
BACKGROUND: Aripiprazole is an atypical antipsychotic with a long half-life. Overdose can result in protracted somnolence and cardiac disturbances, particularly QT interval prolongation. METHODS: This is a single case report of a 14-year-old boy who took an overdose of aripiprazole and developed QRS widening. CASE: A 14-year-old boy intentionally ingested 20 tablets of aripiprazole (5 mg). He was brought to the emergency department when his ingestion was discovered...
May 5, 2018: Pediatric Emergency Care
https://www.readbyqxmd.com/read/29744073/complex-visual-hallucinatory-experience-in-an-elderly-blind-woman-with-glaucoma-revisiting-charles-bonnet-syndrome
#6
Azan A Nyundo, Innocent R Mwombeki
For fear of being ridiculed, individuals with visual hallucinations hide their experiences and thus remain unrecognized and miss treatment. An elderly blind woman secondary to glaucoma experienced visual hallucinations accompanied by gross behavior disturbances. She improved with sodium valproate after haloperidol failed and remained relatively improved upon 3 months follow-up.
May 2018: Clinical Case Reports
https://www.readbyqxmd.com/read/29728388/fecal-microbiota-transplantation-in-experimental-ulcerative-colitis-reveals-associated-gut-microbial-and-host-metabolic-reprogramming
#7
Zhixiang Yan, Xue-Jiao Gao, Ting Li, Bin Wei, Panpan Wang, Ying Yang, Ru Yan
Fecal microbiota transplantation (FMT) is gaining attention for the treatment of ulcerative colitis (UC). Data from individual case studies have suggested that FMT may be beneficial for UC but the detailed microbial and molecular basis remains unknown. Here, we employ 16S rRNA gene sequencing and metabolomics to investigate the influence of FMT on gut microbial community composition and host metabolism in the dextran sulfate sodium (DSS) induced UC rat model. The findings from this pilot study suggest that FMT from normal donors to UC recipients could alleviate UC symptoms without close resemblance of donor's gut microbial and metabolic pattern...
May 4, 2018: Applied and Environmental Microbiology
https://www.readbyqxmd.com/read/29718149/a-common-co-morbidity-modulates-disease-expression-and-treatment-efficacy-in-inherited-cardiac-sodium-channelopathy
#8
Mathilde R Rivaud, John A Jansen, Pieter G Postema, Eline A Nannenberg, Yuka Mizusawa, Roel van der Nagel, Rianne Wolswinkel, Ingeborg van der Made, Gerard A Marchal, Sridharan Rajamani, Luiz Belardinelli, J Peter van Tintelen, Michael W T Tanck, Allard C van der Wal, Jacques M T de Bakker, Harold V van Rijen, Esther E Creemers, Arthur A M Wilde, Maarten P van den Berg, Toon A B van Veen, Connie R Bezzina, Carol Ann Remme
Aims: Management of patients with inherited cardiac ion channelopathy is hindered by variability in disease severity and sudden cardiac death (SCD) risk. Here, we investigated the modulatory role of hypertrophy on arrhythmia and SCD risk in sodium channelopathy. Methods and results: Follow-up data was collected from 164 individuals positive for the SCN5A-1795insD founder mutation and 247 mutation-negative relatives. A total of 38 (obligate) mutation-positive patients died suddenly or suffered life-threatening ventricular arrhythmia...
April 27, 2018: European Heart Journal
https://www.readbyqxmd.com/read/29694352/effects-of-loxoprofen-on-the-apical-root-resorption-during-orthodontic-tooth-movement-in-rats
#9
Taeko Yamamoto, Masato Kaku, Hiromi Sumi, Yuka Yashima, Jin Izumino, Kotaro Tanimoto
Studies have revealed that severe apical root resorption during tooth movement is caused by the noninfective inflammatory reaction of apical root tissues. We hypothesized that loxoprofen can suppress apical root resorption during tooth movement. Cyclic tensile force (CTF) of 10 kPa was applied to the human pulp cells for 48 hours by the Flexcell Strain Unit. Loxoprofen (10 and 100 μM) was added to the culture cells, and expression of cyclooxygenase (COX)-1, COX-2, interleukin (IL)-1β, receptor activator of nuclear factor kappa-B ligand (RANKL), tumor necrosis factor (TNF)-α, and macrophage colony-stimulating factor (M-CSF) were examined...
2018: PloS One
https://www.readbyqxmd.com/read/29661451/ischemia-with-preconditioning-in-wistar-rats-maintains-mitochondrial-respiration-even-with-mild-hepatocellular-disturbance
#10
R R Tártaro, G L Jorge, A H Dianin, C A F Escanhoela, I F S F Boin
INTRODUCTION: In hepatectomy or liver transplantation, preconditioning is a procedure indicated to protect the organ from ischemia-reperfusion injury (I-R). OBJECTIVE: Evaluate the effect of preconditioning after hepatic I-R in Wistar rats, through mitochondrial respiration, liver histology, and profile. METHOD: Twenty male Wistar rats, weighing on average 307.1 g, were anesthetized with sodium thiopental (25 mg/kg) intravenously and xylazine hydrochloride (30 mg/kg) intramuscularly...
April 2018: Transplantation Proceedings
https://www.readbyqxmd.com/read/29657939/cisplatin-alters-sodium-excretion-and-renal-clearance-in-rats-gender-and-drug-dose-related
#11
Sima Jilanchi, Ardeshir Talebi, Mehdi Nematbakhsh
Background: Nephrotoxicity is one of the side effects of cisplatin (CP) therapy which is gender related. CP disturbs renal function through glomerular filtration rate and electrolytes transport disturbances. This study was designed to compare some markers related to renal function in two protocols of CP treatment in rats. Materials and Methods: Male and female rats were subjected to receive single (treat 1; 7.5 mg/kg) and continues doses (treat 2; 3 mg/kg/day for 5 days) of CP, and the measurements were compared with control animals...
2018: Advanced Biomedical Research
https://www.readbyqxmd.com/read/29649760/signalling-cross-talk-between-nitric-oxide-and-active-oxygen-in-trifolium-repens-l-plants-responses-to-cadmium-stress
#12
Shiliang Liu, Rongjie Yang, Durgesh Kumar Tripathi, Xi Li, Mingyan Jiang, Bingyang Lv, Mingdong Ma, Qibing Chen
The significant influence of • NO on the stress response is well established; however, the precise metabolic pathways of • NO and RNS under metal stresses remain unclear. Here, the key components of ROS and RNS metabolism under Cd stress were investigated with multi-level approaches using high-quality forage white clover (Trifolium repens L.) plants. For the studied plants, Cd disturbed the redox homeostasis, affected the absorption of minerals, and exacerbated the degree of lipid peroxidation, thus triggering oxidative stress...
April 9, 2018: Environmental Pollution
https://www.readbyqxmd.com/read/29588531/review-of-case-reports-on-hyperkalemia-induced-by-dietary-intake-not-restricted-to-chronic-kidney-disease-patients
#13
REVIEW
Rogier P M Te Dorsthorst, Jytte Hendrikse, Mats T Vervoorn, Valerie Y H van Weperen, Marcel A G van der Heyden
Hyperkalemia is a metabolic disturbance of the potassium balance that can cause potentially fatal cardiac arrhythmias. Kidney dysfunction and renin-angiotensin-aldosterone system inhibiting drugs are notorious for their tendency to induce hyperkalemia by decreasing the excretion of potassium. The role of dietary potassium intake in inducing hyperkalemia is less clear. We review and analyze the common presentation, laboratory, and electrocardiogram (ECG) findings and therapeutic options associated with dietary-induced hyperkalemia, and find evidence for hyperkalemia development in non-renal impaired patients...
March 27, 2018: European Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/29579035/diabetes-and-cardiovascular-disease-from-new-mechanisms-to-new-therapies
#14
Grzegorz Gajos
Diabetes increases the risk of cardiovascular diseases, which are the leading cause of mortality among diabetic patients. Although hyperglycemia is a major determinant of macrovascular and microvascular complications in diabetes, hypoglycemia and glycemic variability have also a strong influence on the cardiovascular system. This overview presents the current state of knowledge on the impact of type 2 diabetes on the cardiovascular system and new therapeutic strategies that have been recently developed to correct gluco-metabolic disturbances in patients with high cardiovascular risk, such as glucagon-like peptide-1 (GLP-1) receptor agonists, dipeptidyl peptidase-4 (DPP-4) inhibitors and sodium-glucose cotransporter 2 (SGLT2) inhibitors...
March 29, 2018: Polish Archives of Internal Medicine
https://www.readbyqxmd.com/read/29574671/impact-of-prenatal-and-postnatal-treatment-of-sodium-fluoride-and-aluminum-chloride-on-some-hormonal-and-sensorimotor-aspects-in-rats
#15
Amal A Kinawy, Ahoud A Al-Eidan
In most communities, there is a constant exposure to environmental pollutants with probable negative impact on the development of the nervous system. Among these pollutants are the sodium fluoride (NaF) and aluminum chloride (AlCl3 ) which may represent a real threat to the proper functioning of the brain. This study comprises two fundamentally different strategies; in the first one, pregnant rats were administered a daily dose of NaF (0.15 g /L) or AlCl3 (500 mg/L) in the drinking water either separately or in combination with each other from day 6 of gestation until just after weaning...
March 24, 2018: Biological Trace Element Research
https://www.readbyqxmd.com/read/29567111/direct-evidence-of-impaired-neuronal-na-k-atpase-pump-function-in-alternating-hemiplegia-of-childhood
#16
Christine Q Simmons, Christopher H Thompson, Bryan E Cawthon, Grant Westlake, Kathryn J Swoboda, Evangelos Kiskinis, Kevin C Ess, Alfred L George
Mutations in ATP1A3 encoding the catalytic subunit of the Na/K-ATPase expressed in mammalian neurons cause alternating hemiplegia of childhood (AHC) as well as an expanding spectrum of other neurodevelopmental syndromes and neurological phenotypes. Most AHC cases are explained by de novo heterozygous ATP1A3 mutations, but the fundamental molecular and cellular consequences of these mutations in human neurons are not known. In this study, we investigated the electrophysiological properties of neurons generated from AHC patient-specific induced pluripotent stem cells (iPSCs) to ascertain functional disturbances underlying this neurological disease...
March 19, 2018: Neurobiology of Disease
https://www.readbyqxmd.com/read/29561026/the-protective-effect-of-polyunsaturated-fatty-acid-intake-during-pregnancy-against-embryotoxicity-of-sodium-valproate-in-mice
#17
Kelei Li, Jiaomei Li, Jiaojiao Gu, Xiaofei Guo, Tianlin Gao, Duo Li
Sodium valproate (VPA) is an anti-epileptic drug, but has a strong embryotoxicity due to its induced disturbance of folate-homocysteine (Hcy) metabolism and fatty acid metabolism. The aim of the present study was to investigate whether polyunsaturated fatty acid (PUFA) intake during pregnancy can relieve the embryotoxicity of VPA. VPA (dose: 500 mg kg-1, concentration: 38.5 mg ml-1) was intraperitoneally injected into pregnant mice on day 8.5 of gestation (E8.5d). PUFA intake significantly decreased fetal mortality and NTD incidence induced by VPA: n-3 long chain PUFAs (n-3 LCPUFAs) in fish oil had the best decreasing effect, followed by C18:3n-3 in flaxseed oil and then C18:2n-6 in corn oil...
March 21, 2018: Food & Function
https://www.readbyqxmd.com/read/29556787/dysregulation-of-the-renin-angiotensin-system-and-the-vasopressinergic-system-interactions-in-cardiovascular-disorders
#18
REVIEW
Ewa Szczepanska-Sadowska, Katarzyna Czarzasta, Agnieszka Cudnoch-Jedrzejewska
PURPOSE OF REVIEW: In many instances, the renin-angiotensin system (RAS) and the vasopressinergic system (VPS) are jointly activated by the same stimuli and engaged in the regulation of the same processes. RECENT FINDINGS: Angiotensin II (Ang II) and arginine vasopressin (AVP), which are the main active compounds of the RAS and the VPS, interact at several levels. Firstly, Ang II, acting on AT1 receptors (AT1R), plays a significant role in the release of AVP from vasopressinergic neurons and AVP, stimulating V1a receptors (V1aR), regulates the release of renin in the kidney...
March 19, 2018: Current Hypertension Reports
https://www.readbyqxmd.com/read/29551592/metabolomic-assessment-of-arsenite-toxicity-and-novel-biomarker-discovery-in-early-development-of-zebrafish-embryos
#19
Szu-Yuan Wu, Nam-Nhut Phan, Shih-Hsin Ho, Yu-Heng Lai, Tsai Chih-Hung, Yang Chung-Han, Kuan-Lun Li, Hang-Gan Yu, Jung-Chieh Wang, Pung-Ling Huang, Yen-Chang Lin
CONTEXT: Arsenic poisoning commonly occurs through exposure to water contaminated with arsenic and causes long-term symptoms. Of all the arsenic derivatives, arsenite is the one of the most toxic compounds. However, the toxicity of arsenite during developmental stages is still unclear. OBJECTIVE: In this study, we performed a metabolomic analysis of arsenite responses in embryonic zebrafish. MATERIALS AND METHODS: Embryonic zebrafish were used as an animal model in this study...
March 15, 2018: Toxicology Letters
https://www.readbyqxmd.com/read/29540853/the-voltage-gated-sodium-channel-ef-hands-form-an-interaction-with-the-iii-iv-linker-that-is-disturbed-by-disease-causing-mutations
#20
Bernd R Gardill, Ricardo E Rivera-Acevedo, Ching-Chieh Tung, Mark Okon, Lawrence P McIntosh, Filip Van Petegem
Voltage-gated sodium channels (NaV ) are responsible for the rapid depolarization of many excitable cells. They readily inactivate, a process where currents diminish after milliseconds of channel opening. They are also targets for a multitude of disease-causing mutations, many of which have been shown to affect inactivation. A cluster of disease mutations, linked to Long-QT and Brugada syndromes, is located in a C-terminal EF-hand like domain of NaV 1.5, the predominant cardiac sodium channel isoform. Previous studies have suggested interactions with the III-IV linker, a cytosolic element directly involved in inactivation...
March 14, 2018: Scientific Reports
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