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https://www.readbyqxmd.com/read/29353275/endocrine-and-metabolic-disturbances-in-survivors-of-hematopoietic-stem-cell-transplantation-in-childhood-and-adolescence
#1
Shlomit Shalitin, Lihi Pertman, Michal Yackobovitch-Gavan, Isaac Yaniv, Yael Lebenthal, Moshe Phillip, Jerry Stein
BACKGROUND/AIMS: The objective was to evaluate endocrine complications in survivors of hematopoietic stem cell transplantation (HSCT) performed during childhood. METHODS: Endocrine dysfunction and metabolic syndrome parameters were assessed by chart review of 178 childhood HSCT survivors (median age at evaluation, 15.5 [range: 3.8-29.8] years; median follow-up, 8.5 [range: 2-23.4] years). RESULTS: The following statistically significant associations were identified (p < 0...
January 19, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29353259/non-invasive-prenatal-testing-of-pregnancies-at-risk-for-phenylketonuria
#2
Huikun Duan, Ning Liu, Zhenhua Zhao, Yiqian Liu, Yin Wang, Zhifeng Li, Mengnan Xu, David S Cram, Xiangdong Kong
BACKGROUND: Phenylketonuria (PKU) is a common metabolic disorder caused predominately by mutations in the phenylalanine hydroxylase (PAH) gene. The aim of the study was to design and validate the performance of a non-invasive prenatal test (NIPT) for PKU using circulating single molecule amplification and resequencing technology (cSMART). METHODS: A total of 18 couples at genetic risk for having a child with PKU were recruited to the study. Gold standard invasive prenatal diagnosis (IPD) was performed on amniocyte or villus cell DNA by Sanger sequencing, targeting the known parental PAH mutations...
January 20, 2018: Archives of Disease in Childhood. Fetal and Neonatal Edition
https://www.readbyqxmd.com/read/29352292/rna-seq-of-kaposi-s-sarcoma-reveals-alterations-in-glucose-and-lipid-metabolism
#3
For Yue Tso, Andrew V Kossenkov, Salum J Lidenge, Owen Ngalamika, John R Ngowi, Julius Mwaiselage, Jayamanna Wickramasinghe, Eun Hee Kwon, John T West, Paul M Lieberman, Charles Wood
Kaposi's sarcoma-associated herpesvirus (KSHV) is the etiologic agent of Kaposi's sarcoma (KS). It is endemic in a number of sub-Saharan African countries with infection rate of >50%. The high prevalence of HIV-1 coupled with late presentation of advanced cancer staging make KS the leading cancer in the region with poor prognosis and high mortality. Disease markers and cellular functions associated with KS tumorigenesis remain ill-defined. Several studies have attempted to investigate changes of the gene profile with in vitro infection of monoculture models, which are not likely to reflect the cellular complexity of the in vivo lesion environment...
January 19, 2018: PLoS Pathogens
https://www.readbyqxmd.com/read/29352023/monoamine-abnormalities-in-the-sapap3-knockout-model-of-obsessive-compulsive-disorder-related-behaviour
#4
Jesse Wood, Zoe LaPalombara, Susanne E Ahmari
Obsessive-compulsive disorder (OCD) is a leading cause of illness-related disability, but the neural mechanisms underlying OCD symptoms are unclear. One potential mechanism of OCD pathology is monoamine dysregulation. Because of the difficulty of studying monoamine signalling in patients, animal models offer a viable alternative to understanding this aspect of OCD pathophysiology. We used HPLC to characterize post-mortem monoamine levels in lateral orbitofrontal cortex (OFC), medial OFC, medial prefrontal cortex and dorsal and ventral striatum of SAPAP-3 knockout (KO) mice, a well-validated model of compulsive-like behaviours in OCD...
March 19, 2018: Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences
https://www.readbyqxmd.com/read/29351662/the-versatile-tanycyte-a-hypothalamic-integrator-of-reproduction-and-energy-metabolism
#5
Vincent Prevot, Bénédicte Dehouck, Ariane Sharif, Philippe Ciofi, Paolo Giacobini, Jerome Clasadonte
The fertility and survival of an individual rely on the ability of the periphery to promptly, effectively and reproducibly communicate with brain neural networks that control reproduction, food intake and energy homeostasis. Tanycytes, a specialized glial cell type lining the wall of the third ventricle in the median eminence of the hypothalamus, appear to act as the linchpin of these processes by dynamically controlling the secretion of neuropeptides into the portal vasculature by hypothalamic neurons and regulating blood-brain and blood-cerebrospinal fluid exchanges, both processes that depend on the ability of these cells to adapt their morphology to the physiological state of the individual...
January 17, 2018: Endocrine Reviews
https://www.readbyqxmd.com/read/29351564/steatosis-in-south-african-women-how-much-and-why
#6
Nitien H Naran, Mark Haagensen, Nigel J Crowther
BACKGROUND: Globally, steatosis is the commonest type of liver pathology and is closely associated with obesity and the metabolic syndrome. Obesity is common in urban African females but no data is available on hepatic fat content in this population group when compared to other ethnic groups. The aim of this study was therefore to compare hepatic fat content in woman from different ethnic groups in South Africa and to characterise the principle determinants of liver fat. MATERIALS AND METHODS: A convenience sample of 106 (48 Indian, 29 African and 29 Caucasian) female volunteers aged 20-60 years and having no history of cardiometabolic disorders were recruited...
2018: PloS One
https://www.readbyqxmd.com/read/29351550/differential-actions-of-ppar-%C3%AE-and-ppar-%C3%AE-%C3%AE-on-beige-adipocyte-formation-a-study-in-the-subcutaneous-white-adipose-tissue-of-obese-male-mice
#7
Tamiris Lima Rachid, Flavia Maria Silva-Veiga, Francielle Graus-Nunes, Isabele Bringhenti, Carlos Alberto Mandarim-de-Lacerda, Vanessa Souza-Mello
BACKGROUND AND AIMS: Obesity compromises adipocyte physiology. PPARs are essential to adipocyte plasticity, but its isolated role in the browning phenomenon is not clear. This study aimed to examine whether activation of PPAR-α or PPAR-β/δ could induce beige cell depots in the subcutaneous white adipose tissue of diet-induced obese mice. MATERIAL AND METHODS: Sixty animals were randomly assigned to receive a control diet (C, 10% lipids) or a high-fat diet (HF, 50% lipids) for ten weeks...
2018: PloS One
https://www.readbyqxmd.com/read/29351259/dietary-fatty-acids-alter-lipid-profiles-and-induce-myocardial-dysfunction-without-causing-metabolic-disorders-in-mice
#8
Bainian Chen, Yifan Huang, Dong Zheng, Rui Ni, Mark A Bernards
Oversupply of bulk saturated fatty acids (SFA) induces metabolic disorders and myocardial dysfunction. We investigated whether, without causing metabolic disorders, the uptake of individual dietary SFA species alters lipid profiles and induces myocardial dysfunction. C57BL/6 mice were fed various customized long-chain SFA diets (40% caloric intake from SFA), including a beef tallow (HBD), cocoa butter (HCD), milk fat (HMD) and palm oil diet (HPD), for 6 months. An isocaloric fat diet, containing medium-chain triglycerides, served as a control (CHD)...
January 19, 2018: Nutrients
https://www.readbyqxmd.com/read/29350350/biochemical-changes-and-clinical-outcomes-in-34-patients-with-classic-galactosemia
#9
Tatiana Yuzyuk, Krista Viau, Ashley Andrews, Marzia Pasquali, Nicola Longo
Impaired activity of galactose-1-phosphate uridyltransferase (GALT) causes galactosemia, an autosomal recessive disorder of galactose metabolism. Early initiation of a galactose-restricted diet can prevent or resolve neonatal complications. Despite therapy, patients often experience long-term complications including speech impairment, learning disabilities, and premature ovarian insufficiency in females. This study evaluates clinical outcomes in 34 galactosemia patients with markedly reduced GALT activity and compares outcomes between patients with different levels of mean galactose-1-phosphate in red blood cells (GAL1P) using logistic regression: group 1 (n = 13) GAL1P ≤1...
January 19, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29349890/case-report-cytochrome-p450-implications-for-comorbid-adhd-and-ocd-pharmacotherapy
#10
Michaela K Hogan, Nikhil P Rao
TOPIC: This case report details the treatment of an early adolescent already receiving treatment for attention-deficit hyperactivity disorder who presents with recurrent obsessive-compulsive disorder. Potential atomoxetine (Strattera) and fluoxetine (Prozac) interactions via Cytochrome P450 (CYP450) pathways are examined and alternate therapies are recommended. PURPOSE: Provide a discussion of psychopharmacogenomics, especially in the case of combining medications, CYP450 enzymes, and clinical implications in the context of the burgeoning field of precision medicine...
January 19, 2018: Journal of Child and Adolescent Psychiatric Nursing
https://www.readbyqxmd.com/read/29349573/mesencephalic-astrocyte-derived-neurotrophic-factor-manf-elevates-stimulus-evoked-release-of-dopamine-in-freely-moving-rats
#11
Juho-Matti Renko, Susanne Bäck, Merja H Voutilainen, T Petteri Piepponen, Ilkka Reenilä, Mart Saarma, Raimo K Tuominen
Neurotrophic factors (NTFs) hold potential as disease-modifying therapies for neurodegenerative disorders like Parkinson's disease. Glial cell line-derived neurotrophic factor (GDNF), cerebral dopamine neurotrophic factor (CDNF), and mesencephalic astrocyte-derived neurotrophic factor (MANF) have shown neuroprotective and restorative effects on nigral dopaminergic neurons in various animal models of Parkinson's disease. To date, however, their effects on brain neurochemistry have not been compared using in vivo microdialysis...
January 18, 2018: Molecular Neurobiology
https://www.readbyqxmd.com/read/29348994/the-association-of-mediterranean-diet-and-exercise-modifications-with-anthropometric-parameters-in-a-psychiatric-community-population-a-pilot-study
#12
Rosaria Di Lorenzo, Jessica Pedretti, Letizia Grossi, Benedetta Cuoghi, Cinzia Varni, Giulia Landi, Ludovica Spattini, Chiara Visentini, Paola Ferri, Francesca Carubbi
Weight gain and related metabolic syndrome (MS) are major current issues in public health. MS consists of abdominal fat, atherogenic dyslipidemia, hypertension, hyperglycemia, insulin resistance, pro-inflammatory and pro-thrombotic state, and accounts for both cardiovascular diseases and type II diabetes mellitus risk factors. Patients affected by psychiatric illness present a prevalence of 35-40% of MS. Many studies have shown that Mediterranean diet is associated with the reduction of mortality due to cardiovascular and malignant diseases, potentially preventing both obesity and type II diabetes mellitus...
March 2018: Preventive Medicine Reports
https://www.readbyqxmd.com/read/29348617/neuronal-lysosomal-dysfunction-releases-exosomes-harboring-app-c-terminal-fragments-and-unique-lipid-signatures
#13
André M Miranda, Zofia M Lasiecka, Yimeng Xu, Jessi Neufeld, Sanjid Shahriar, Sabrina Simoes, Robin B Chan, Tiago Gil Oliveira, Scott A Small, Gilbert Di Paolo
Defects in endolysosomal and autophagic functions are increasingly viewed as key pathological features of neurodegenerative disorders. A master regulator of these functions is phosphatidylinositol-3-phosphate (PI3P), a phospholipid synthesized primarily by class III PI 3-kinase Vps34. Here we report that disruption of neuronal Vps34 function in vitro and in vivo impairs autophagy, lysosomal degradation as well as lipid metabolism, causing endolysosomal membrane damage. PI3P deficiency also promotes secretion of unique exosomes enriched for undigested lysosomal substrates, including amyloid precursor protein C-terminal fragments (APP-CTFs), specific sphingolipids, and the phospholipid bis(monoacylglycero)phosphate (BMP), which normally resides in the internal vesicles of endolysosomes...
January 18, 2018: Nature Communications
https://www.readbyqxmd.com/read/29348607/evaluation-of-mitochondrial-bioenergetics-dynamics-endoplasmic-reticulum-mitochondria-crosstalk-and-reactive-oxygen-species-in-fibroblasts-from-patients-with-complex-i-deficiency
#14
Guilhian Leipnitz, Al-Walid Mohsen, Anuradha Karunanidhi, Bianca Seminotti, Vera Y Roginskaya, Desiree M Markantone, Mateus Grings, Stephanie J Mihalik, Peter Wipf, Bennett Van Houten, Jerry Vockley
Mitochondrial complex I (CI) deficiency is the most frequent cause of oxidative phosphorylation (OXPHOS) disorders in humans. In order to benchmark the effects of CI deficiency on mitochondrial bioenergetics and dynamics, respiratory chain (RC) and endoplasmic reticulum (ER)-mitochondria communication, and superoxide production, fibroblasts from patients with mutations in the ND6, NDUFV1 or ACAD9 genes were analyzed. Fatty acid metabolism, basal and maximal respiration, mitochondrial membrane potential, and ATP levels were decreased...
January 18, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29348398/association-study-of-polymorphisms-in-genes-relevant-to-vitamin-b12-and-folate-metabolism-with-childhood-autism-spectrum-disorder-in-a-han-chinese-population
#15
Zengyu Zhang, Lianfang Yu, Sufang Li, Jun Liu
BACKGROUND Both genetic and environmental factors play a role in the development of autism spectrum disorder (ASD). This case-control study examined the association between childhood ASD and single-nucleotide polymorphisms (SNPs) in genes involved with vitamin B12 and folate metabolism. MATERIAL AND METHODS Genotypes of transcobalamin 2 (TCN2) rs1801198, methionine synthase (MTR) rs1805087, methionine synthase reductase (MTRR) rs1801394, and methylene tetrahydrofolate reductase (MTHFR) rs1801133 were examined in 201 children with ASD and 200 healthy controls from the Han Chinese population...
January 19, 2018: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/29346932/gap-junction-coupling-and-atp-sensitive-potassium-channels-in-human-%C3%AE-cell-clusters-effects-on-emergent-dynamics
#16
A Loppini, M G Pedersen, M Braun, S Filippi
The importance of gap-junction coupling between β cells in pancreatic islets is well established in mouse. Such ultrastructural connections synchronize cellular activity, confine biological heterogeneity, and enhance insulin pulsatility. Dysfunction of coupling has been associated with diabetes and altered β-cell function. However, the role of gap junctions between human β cells is still largely unexplored. By using patch-clamp recordings of β cells from human donors, we previously estimated electrical properties of these channels by mathematical modeling of pairs of human β cells...
September 2017: Physical Review. E
https://www.readbyqxmd.com/read/29346380/rapidly-progressive-dementia-an-eight-year-2008-2016-retrospective-study
#17
Patil Anuja, Vishnu Venugopalan, Naheed Darakhshan, Pandit Awadh, Vinny Wilson, Goyal Manoj, Modi Manish, Lal Vivek
BACKGROUND AND PURPOSE: Rapidly progressive dementia (RPD) is an emergency in cognitive neurology, defined as cognitive impairment affecting the daily living activities developed over less than 1 year. This study investigated the profile of patients with rapidly progressive dementia at first presentation. METHODS: Retrospective case analysis was done in 187 patients with rapidly progressive dementia who presented to the Postgraduate Institute of Medical Education and Research, Chandigarh, India from January 2008 to August 2016...
2018: PloS One
https://www.readbyqxmd.com/read/29346051/diagnosis-treatment-and-outcome-of-and-risk-factors-for-ophthalmic-disease-in-leopard-geckos-eublepharis-macularius-at-a-veterinary-teaching-hospital-52-cases-1985-2013
#18
K Tomo Wiggans, David Sanchez-Migallon Guzman, Christopher M Reilly, Claire Vergneau-Grosset, Philip H Kass, Steven R Hollingsworth
OBJECTIVE To describe diagnosis, treatment, and outcome of and risk factors for ophthalmic disease in leopard geckos (Eublepharis macularius) evaluated at a veterinary teaching hospital. DESIGN Retrospective case series. ANIMALS 112 of 144 (78%) leopard geckos that were evaluated at a veterinary teaching hospital in January 1985 through October 2013 and for which sufficient medical record information was available. PROCEDURES Information from medical records was used to identify leopard geckos with ophthalmic disease, characterize cases, and determine risk factors for the presence of ophthalmic disease...
February 1, 2018: Journal of the American Veterinary Medical Association
https://www.readbyqxmd.com/read/29345930/%C3%AE-amino-%C3%AE-carboxymuconate-%C3%AE%C2%B5-semialdehyde-decarboxylase-acmsd-inhibitors-as-novel-modulators-of-de-novo-nicotinamide-adenine-dinucleotide-nad-biosynthesis
#19
Roberto Pellicciari, Paride Liscio, Nicola Giacchè, Francesca De Franco, Andrea Carotti, Janet Robertson, Lucia Cialabrini, Elena Katsyuba, Nadia Raffaelli, Johan Auwerx
NAD+ has a central function in linking cellular metabolism to major cell signaling and gene regulation pathways. Defects in NAD+ homeostasis underpin a wide range of diseases, including cancer, metabolic disorders, and aging. Whilst the beneficial effects of NAD+ boosting are well established in mitochondrial fitness, metabolism, and lifespan, to date, no therapeutic enhancers of de novo NAD+ biosynthesis have been reported. Herein we report the discovery of 3-[[[5-cyano-1,6-dihydro-6-oxo-4-(2-thienyl)-2-pyrimidinyl]thio]methyl]phenylacetic acid (TES-1025, 22) the first potent and selective inhibitor of human ACMSD (IC50 = 0...
January 18, 2018: Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/29345748/kudingcha-and-fuzhuan-brick-tea-prevent-obesity-and-modulate-gut-microbiota-in-high-fat-diet-fed-mice
#20
Guijie Chen, Minhao Xie, Zhuqing Dai, Peng Wan, Hong Ye, Xiaoxiong Zeng, Yi Sun
SCOPE: Kudingcha (KDC) from Ilex kudingcha and Fuzhuan brick tea (FBT) are popular beverages in China, and their preventive and therapeutic roles in metabolic disorders have been reported. However, the relationship between the gut microbiota modulatory effects of KDC and FBT and prevention of obesity is still not clearly understood. METHODS AND RESULTS: KDC and FBT were tested individually for their capacities to prevent obesity and modulate the gut microbiota in high-fat diet (HFD) fed C57BL/6J mice...
January 18, 2018: Molecular Nutrition & Food Research
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