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https://www.readbyqxmd.com/read/28741715/first-report-of-carglumic-acid-in-a-patient-with-citrullinemia-type-1-argininosuccinate-synthetase-deficiency
#1
E Kose, P Kuyum, B Aksoy, J Häberle, N Arslan, Y Ozturk
WHAT IS KNOWN AND OBJECTIVE: Carglumic acid is a structural analogue of human N-acetylglutamate, which has become an alternative therapeutic option for hyperammonaemia in organic acidaemias such as isovaleric acidaemia, methylmalonic acidaemia and propionic acidaemia, and it has been suggested in other urea cycle disorders such as ornithine transcarbamylase deficiency and carbamoyl phosphate synthetase 1 deficiency. CASE DESCRIPTION: A male newborn was diagnosed with citrullinemia after serum amino acid analyses revealed markedly elevated citrulline concentration together with homozygous p...
July 25, 2017: Journal of Clinical Pharmacy and Therapeutics
https://www.readbyqxmd.com/read/28739252/valproic-acid-inhibits-ttx-resistant-sodium-currents-in-prefrontal-cortex-pyramidal-neurons
#2
Bartlomiej Szulczyk, Ewa Nurowska
Valproic acid is frequently prescribed and used to treat epilepsy, bipolar disorder and other conditions. However, the mechanism of action of valproic acid has not been fully elucidated. The aim of this study was to assess the influence of valproic acid (200 μM) on TTX-resistant sodium currents in mPFC pyramidal neurons. Valproic acid inhibited the maximal amplitude and did not change the activation parameters of TTX-resistant sodium currents. Moreover, valproic acid (2 μM and 200 μM) shifted the TTX-resistant sodium channel inactivation curve towards hyperpolarisation...
July 21, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28735675/treatment-of-narcolepsy-and-other-organic-hypersomnias-in-children
#3
REVIEW
Suresh Kotagal
The comprehensive management of chronic disorders such as hypersomnias of childhood requires combining life-style changes with rational pharmacotherapy that is based on treating the symptoms that are most bothersome, the age, comorbidities, and metabolic and endocrine status of the patient. The excessive sleepiness of narcolepsy and idiopathic hypersomnia is best treated with dextroamphetamine or methylphenidate preparations or modafinil/armodafinil. Cataplexy treatment requires sodium oxybate, tricyclic agents, selective norepinephrine reuptake inhibitors or selective serotonin reuptake inhibitors...
June 20, 2017: Paediatric Respiratory Reviews
https://www.readbyqxmd.com/read/28732575/beraprost-sodium-a-prostacyclin-analogue-reduces-fructose-induced-hepatocellular-steatosis-in-mice-and-in-vitro-via-the-microrna-200a-and-sirt1-signaling-pathway
#4
Pengyuan Zhang, Lijuan Xu, Hongyu Guan, Liehua Liu, Juan Liu, Zhimin Huang, Xiaopei Cao, Zhihong Liao, Haipeng Xiao, Yanbing Li
PURPOSE: To determine whether beraprost sodium, a prostacyclin analogue, could reduce hepatic lipid accumulation induced by fructose in mice and cultured human hepatocytes, and to investigate the expression of microRNAs and the sirtuin 1 (SIRT1) pathway. METHODS: Male C57BL/6JNju mice were divided into three groups and fed one of the following diets: a normal diet, a high fructose diet, or a high fructose diet with beraprost sodium treatment. In addition, human-derived HepG2 cells were cultured and treated with fructose (25mmol/L) with or without beraprost sodium (10μmol/L) for 24h, and transfected with small interfering RNA (siRNA) against SIRT1, miR-200a mimic, or miR-200a inhibitor for 48h...
August 2017: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/28730896/cannabinoid-hyperemesis-syndrome-potential-mechanisms-for-the-benefit-of-capsaicin-and-hot-water-hydrotherapy-in-treatment
#5
John R Richards, Jeff M Lapoint, Guillermo Burillo-Putze
INTRODUCTION: Cannabinoid hyperemesis syndrome is a clinical disorder that has become more prevalent with increasing use of cannabis and synthetic cannabinoids, and which is difficult to treat. Standard antiemetics commonly fail to alleviate the severe nausea and vomiting characteristic of the syndrome. Curiously, cannabinoid hyperemesis syndrome patients often report dramatic relief of symptoms with hot showers and baths, and topical capsaicin. OBJECTIVES: In this review, we detail the pharmacokinetics and pharmacodynamics of capsaicin and explore possible mechanisms for its beneficial effect, including activation of transient receptor potential vanilloid 1 and neurohumoral regulation...
July 21, 2017: Clinical Toxicology
https://www.readbyqxmd.com/read/28729970/severe-cyclophosphamide-related-hyponatremia-in-a-patient-with-acute-glomerulonephritis
#6
Pasquale Esposito, Maria Valentina Domenech, Nicoletta Serpieri, Marta Calatroni, Ilaria Massa, Alessandro Avella, Edoardo La Porta, Luca Estienne, Elena Caramella, Teresa Rampino
Cyclophosphamide is frequently used to treat cancer, autoimmune and renal diseases, such as rapidly progressive glomerulonephritis. Its side effects are well-known, including bone marrow depression, infections, alopecia, sterility, bladder malignancy and hemorrhagic cystitis. Moreover, in some cases cyclophosphamide use has been related to the onset of hyponatremia, by development of a syndrome of inappropriate antidiuresis. Indeed, severe hyponatremia has been previously reported in patients treated with high-dose or moderate-dose of intravenous cyclophosphamide, while only few cases have been reported in patients treated with low dose...
July 6, 2017: World Journal of Nephrology
https://www.readbyqxmd.com/read/28728476/a-perspective-on-diuretic-resistance-in-chronic-congestive-heart-failure
#7
Niel Shah, Raef Madanieh, Mehmet Al Kan, Muhammad U Dogar, Constantine E Kosmas, Timothy J Vittorio
Chronic congestive heart failure (CHF) is a complex disorder characterized by inability of the heart to keep up the demands on it, followed by the progressive pump failure and fluid accumulation. Although the loop diuretics are widely used in heart failure (HF) patients, both pharmacodynamic and pharmacokinetic alterations are thought to be responsible for diuretic resistance in these patients. Strategies to overcome diuretic resistance include sodium intake restriction, changes in diuretic dose and route of administration and sequential nephron diuretic therapy...
July 1, 2017: Therapeutic Advances in Cardiovascular Disease
https://www.readbyqxmd.com/read/28725949/tubulointerstitial-nephritis-induced-hypophosphatemic-osteomalacia-in-sj%C3%A3-gren-s-syndrome-a-case-report-and-review-of-the-literature
#8
REVIEW
Yan Geng, Youlu Zhao, Zhuoli Zhang
Sjögren's syndrome (SS) is a chronic autoimmune inflammatory disease that typically affects the salivary and lacrimal glands. Renal involvement is relatively uncommon and may precede other complaints. Tubulointestitial nephritis (TIN) is the most common renal involvement in SS. Osteomalacia occurring as the first manifestation of renal tubular disorder due to SS is very rare. We report a 39-year-old male who presented with polydipsia, polyuria, and multiple bone pain. Bone density test showed severe osteoporosis, and laboratory findings suggested hypokalemia, hypophosphatemia, and vitamin D deficiency, which supported the diagnosis of hypophosphatemic osteomalacia...
July 20, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28719807/evaluation-of-a-novel-radiotracer-for-positron-emission-tomography-imaging-of-reactive-oxygen-species-in-the-central-nervous-system
#9
Alan A Wilson, Oleg Sadovski, José N Nobrega, Roger J Raymond, Francis R Bambico, Mina G Nashed, Armando Garcia, Peter M Bloomfield, Sylvain Houle, Romina Mizrahi, Junchao Tong
INTRODUCTION: Few, if any, radiotracers are available for the in vivo imaging of reactive oxygen species (ROS) in the central nervous system. ROS play a critical role in normal cell processes such as signaling and homeostasis but overproduction of ROS is implicated in several disorders. We describe here the radiosynthesis and initial ex vivo and in vivo evaluation of [(11)C]hydromethidine ([(11)C]HM) as a radiotracer to image ROS using positron emission tomography (PET). METHODS: [(11)C]HM and its deuterated isotopologue [(11)C](4) were produced using [(11)C]methyl triflate in a one-pot, two-step reaction and purified by high performance liquid chromatography...
June 1, 2017: Nuclear Medicine and Biology
https://www.readbyqxmd.com/read/28710467/human-ipsc-derived-cardiomyocytes-cultured-in-3d-engineered-heart-tissue-show-physiological-upstroke-velocity-and-sodium-current-density
#10
Marc D Lemoine, Ingra Mannhardt, Kaja Breckwoldt, Maksymilian Prondzynski, Frederik Flenner, Bärbel Ulmer, Marc N Hirt, Christiane Neuber, András Horváth, Benjamin Kloth, Hermann Reichenspurner, Stephan Willems, Arne Hansen, Thomas Eschenhagen, Torsten Christ
Human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CM) are a promising tool for drug testing and modelling genetic disorders. Abnormally low upstroke velocity is a current limitation. Here we investigated the use of 3D engineered heart tissue (EHT) as a culture method with greater resemblance to human heart tissue in comparison to standard technique of 2D monolayer (ML) format. INa was measured in ML or EHT using the standard patch-clamp technique. INa density was ~1.8 fold larger in EHT (-18...
July 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28706399/comparative-effect-of-divided-doses-of-adult-solid-and-liquid-oral-formulations-of-antiepileptic-drugs-in-the-management-of-pediatric-epilepsy
#11
Ravi Prasad Nidanapu, Bascarane Tamijarassy, Subramanian Mahadevan, Batmanabane Gitanjali
OBJECTIVE: To compare the differences in the efficacy and safety of the commonly prescribed AEDs in the management of epilepsy in children when using divided doses of adult solid oral formulations (DDSF) with the liquid oral formulations (LFs). MATERIALS AND METHODS: Patients who had one or more seizures per month and prescribed with DDSF were recruited. Initially the patients were continued on DDSF for 4 months following which they were switched over to LF for the subsequent 4 months...
April 2017: Journal of Pharmacology & Pharmacotherapeutics
https://www.readbyqxmd.com/read/28706256/an-extremely-high-dietary-iodide-supply-forestalls-severe-hypothyroidism-in-na-i-symporter-nis-knockout-mice
#12
Giuseppe Ferrandino, Rachel R Kaspari, Andrea Reyna-Neyra, Nabil E Boutagy, Albert J Sinusas, Nancy Carrasco
The sodium/iodide symporter (NIS) mediates active iodide (I(-)) accumulation in the thyroid, the first step in thyroid hormone (TH) biosynthesis. Mutations in the SLC5A5 gene encoding NIS that result in a non-functional protein lead to congenital hypothyroidism due to I(-) transport defect (ITD). ITD is a rare autosomal disorder that, if not treated promptly in infancy, can cause mental retardation, as the TH decrease results in improper development of the nervous system. However, in some patients, hypothyroidism has been ameliorated by unusually large amounts of dietary I(-)...
July 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28704925/licochalcone-a-prevents-platelet-activation-and-thrombus-formation-through-the-inhibition-of-plc%C3%AE-2-pkc-akt-and-mapk-pathways
#13
Li-Ming Lien, Kuan-Hung Lin, Li-Ting Huang, Mei-Fang Tseng, Hou-Chang Chiu, Ray-Jade Chen, Wan-Jung Lu
Platelet activation is involved in cardiovascular diseases, such as atherosclerosis and ischemic stroke. Licochalcone A (LA), an active ingredient of licorice, exhibits multiple biological activities such as anti-oxidation and anti-inflammation. However, its role in platelet activation remains unclear. Therefore, the study investigated the antiplatelet mechanism of LA. Our data revealed that LA (2-10 μM) concentration dependently inhibited platelet aggregation induced by collagen, but not thrombin and U46619...
July 12, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28704395/intraperitoneal-pyrophosphate-treatment-reduces-renal-calcifications-in-npt2a-null-mice
#14
Daniel Caballero, Yuwen Li, Jonathan Fetene, Julian Ponsetto, Alyssa Chen, Chuanlong Zhu, Demetrios T Braddock, Clemens Bergwitz
Mutations in the proximal tubular sodium-dependent phosphate co-transporters NPT2a and NPT2c have been reported in patients with renal stone disease and nephrocalcinosis, however the relative contribution of genotype, dietary calcium and phosphate, and modifiers of mineralization such as pyrophosphate (PPi) to the formation of renal mineral deposits is unclear. In the present study, we used Npt2a-/- mice to model the renal calcifications observed in these disorders. We observed elevated urinary excretion of PPi in Npt2a-/- mice when compared to WT mice...
2017: PloS One
https://www.readbyqxmd.com/read/28704229/treatment-of-hyponatremic-encephalopathy-in-the-critically-ill
#15
Steven G Achinger, Juan Carlos Ayus
OBJECTIVES: Hyponatremic encephalopathy, symptomatic cerebral edema due to a low osmolar state, is a medical emergency and often encountered in the ICU setting. This article provides a critical appraisal and review of the literature on identification of high-risk patients and the treatment of this life-threatening disorder. DATA SOURCES, STUDY SELECTION, AND DATA EXTRACTION: Online search of the PubMed database and manual review of articles involving risk factors for hyponatremic encephalopathy and treatment of hyponatremic encephalopathy in critical illness...
July 11, 2017: Critical Care Medicine
https://www.readbyqxmd.com/read/28702509/loss-of-function-variants-of-scn8a-in-intellectual-disability-without-seizures
#16
Jacy L Wagnon, Bryan S Barker, Matteo Ottolini, Young Park, Alicia Volkheimer, Purnima Valdez, Marielle E M Swinkels, Manoj K Patel, Miriam H Meisler
OBJECTIVE: To determine the functional effect of SCN8A missense mutations in 2 children with intellectual disability and developmental delay but no seizures. METHODS: Genomic DNA was analyzed by next-generation sequencing. SCN8A variants were introduced into the Nav1.6 complementary DNA by site-directed mutagenesis. Channel activity was measured electrophysiologically in transfected ND7/23 cells. The stability of the mutant channels was assessed by Western blot...
August 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28701338/lifestyle-in-progression-from-hypertensive-disorders-of-pregnancy-to-chronic-hypertension-in-nurses-health-study-ii-observational-cohort-study
#17
Simon Timpka, Jennifer J Stuart, Lauren J Tanz, Eric B Rimm, Paul W Franks, Janet W Rich-Edwards
Objectives To study the association between lifestyle risk factors and chronic hypertension by history of hypertensive disorders of pregnancy (HDP: gestational hypertension and pre-eclampsia) and investigate the extent to which these risk factors modify the association between HDP and chronic hypertension.Design Prospective cohort study.Setting Nurses' Health Study II (1991-2013).Participants 54 588 parous women aged 32 to 59 years with data on reproductive history and without previous chronic hypertension, stroke, or myocardial infarction...
July 12, 2017: BMJ: British Medical Journal
https://www.readbyqxmd.com/read/28700948/peripartum-antibiotics-promote-gut-dysbiosis-loss-of-immune-tolerance-and-inflammatory-bowel-disease-in-genetically-prone-offspring
#18
Jun Miyoshi, Alexandria M Bobe, Sawako Miyoshi, Yong Huang, Nathaniel Hubert, Tom O Delmont, A Murat Eren, Vanessa Leone, Eugene B Chang
Factors affecting the developing neonatal gut microbiome and immune networks may increase the risk of developing complex immune disorders such as inflammatory bowel diseases (IBD). In particular, peripartum antibiotics have been suggested as risk factors for human IBD, although direct evidence is lacking. Therefore, we examined the temporal impact of the commonly used antibiotic cefoperazone on both maternal and offspring microbiota when administered to dams during the peripartum period in the IL-10-deficient murine colitis model...
July 11, 2017: Cell Reports
https://www.readbyqxmd.com/read/28699114/reversible-hypokalemia-and-bartter-like-syndrome-during-prolonged-systemic-therapy-with-colistimethate-sodium-in-an-adult-patient
#19
Tarek Kamal Eldin, Grazia Tosone, Alfredo Capuano, Raffaele Orlando
We present the case of a 58-year-old woman who developed hypokalaemia and metabolic alkalosis 2 weeks after therapy with colistimethate sodium for the treatment of chronic lower limb ulcer infection by extensively drug-resistant (XDR) Pseudomonas aeruginosa. The metabolic changes observed resembled Bartter syndrome, a group of congenital disorders affecting the distal segments of the renal tubules. The metabolic abnormalities reversed spontaneously 6 days after drug discontinuation. Acquired forms of Bartter syndrome have been reported during courses of antibiotic therapy; however, to our knowledge, this is the first documented case associated with colistimethate therapy in an adult...
December 2017: Drug Safety—Case Reports
https://www.readbyqxmd.com/read/28698728/association-of-25-hydroxyvitamin-d-deficiency-in-pediatric-epileptic-patients
#20
Jaydip Ray Chaudhuri, Kandadai Rukmini Mridula, Chakrala Rathnakishore, Banda Balaraju, Vcs Srinivasarao Bandaru
OBJECTIVE: Epilepsy is a chronic neurological disorder requiring long-term therapy using antiepileptic medications. Reports have incriminated long-term antiepileptic drugs use in deficiency of vitamin D and bone diseases in all age groups. We aimed to investigate the association between serum 25-hydroxyvitamin D levels and pediatric epilepsy in Indian patients. MATERIALS & METHODS: We prospectively recruited 100 pediatric epilepsy patients, on monotherapy for minimum one-year duration, and 50 age and sex matched controls...
2017: Iranian Journal of Child Neurology
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