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https://www.readbyqxmd.com/read/28545161/classic-galactosemia-study-on-the-late-prenatal-development-of-galt-specific-activity-in-a-sheep-model
#1
Ana I Coelho, Jörgen Bierau, Martijn Lindhout, Jelle Achten, Boris W Kramer, M Estela Rubio-Gozalbo
BACKGROUND: Classic galactosemia results from deficient activity of galactose-1-phosphate uridylyltransferase (GALT), a key enzyme of galactose metabolism. Despite early diagnosis and early postnatal therapeutic intervention, patients still develop neurologic and fertility impairments. Prenatal developmental toxicity has been hypothesized as a determinant factor of disease. In order to shed light on the importance of prenatal GALT activity, several studies have examined GALT activity throughout development...
May 25, 2017: Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
https://www.readbyqxmd.com/read/28545069/behavioral-alterations-are-associated-with-vitamin-b12-deficiency-in-the-transcobalamin-receptor-cd320-ko-mouse
#2
Kaveri Arora, Jeffrey M Sequeira, Alejandro I Hernández, Juan M Alarcon, Edward V Quadros
Vitamin B12 (cobalamin) deficiency is prevalent worldwide and causes megaloblastic anemia and neurologic deficits. While the anemia can be treated, the neurologic deficits can become refractive to treatment as the disease progresses. Therefore, timely intervention is critical for a favorable outcome. Moreover, the metabolic basis for the neuro-pathologic changes and the role of cobalamin deficiency in the pathology still remains unexplained. Using a transcobalamin receptor / CD320 knockout mouse that lacks the receptor for cellular uptake of transcobalamin bound cobalamin, we aimed to determine whether cobalamin deficiency in the central nervous system produced functional neurologic deficits in the mouse that would parallel those observed in humans...
2017: PloS One
https://www.readbyqxmd.com/read/28544654/hypogonadism-in-testicular-cancer-patients-is-associated-with-risk-factors-of-cardiovascular-disease-and-the-metabolic-syndrome
#3
C Bogefors, S Isaksson, J Bobjer, M Kitlinski, I Leijonhufvud, K Link, A Giwercman
More than 95% of testicular cancer are cured but they are at increased long-term risk of cardiovascular disease. The risk of cardiovascular disease and treatment intensity was reported, but it is unknown whether this effect of cancer therapy is direct or indirect, mediated through androgen deficiency. Our aim was, therefore, to evaluate whether testicular cancer patients have increased the prevalence of risk factors of cardiovascular disease and if these risk factors are associated with hypogonadism and/or the cancer treatment given...
May 23, 2017: Andrology
https://www.readbyqxmd.com/read/28544651/genetic-determination-of-body-fat-distribution-and-the-attributive-influence-on-metabolism
#4
Ellen Fehlert, Róbert Wagner, Caroline Ketterer, Anja Böhm, Jürgen Machann, Louise Fritsche, Fausto Machicao, Fritz Schick, Harald Staiger, Norbert Stefan, Hans-Ulrich Häring, Andreas Fritsche, Martin Heni
OBJECTIVE: Genome-wide association studies (GWAS) have identified single-nucleotide polymorphisms (SNPs) associated with estimates of body fat distribution. Using predefined risk allele scores, the correlation of these scores with precisely quantified body fat distribution assessed by magnetic resonance (MR) imaging techniques and with metabolic traits was investigated. METHODS: Data from 4,944 MR scans from 915 subjects of European ancestry were analyzed. Body fat distribution was determined by MR imaging and liver fat content by (1) H-MR spectroscopy...
May 25, 2017: Obesity
https://www.readbyqxmd.com/read/28544614/proteomic-profiling-of-the-hypothalamus-in-two-mouse-models-of-narcolepsy
#5
Sausan Azzam, Daniela Schlatzer, David Nethery, Dania Saleh, Xiaolin Li, Afaf Akladious, Mark R Chance, Kingman P Strohl
Narcolepsy is a disabling neurological disorder of sleepiness linked to the loss of neurons producing orexin neuropeptides in the hypothalamus. Two well characterized phenotypic mouse models of narcolepsy, loss-of-function (orexin-knockout) and progressive loss of orexin (orexin/ataxin-3) exist. The open question is whether the proteomics signatures of the hypothalamus would be different between the two models. To address this gap, we utilized a label-free proteomics approach and conducted a hypothalamic proteome analysis by comparing each disease model to that of wild type...
May 22, 2017: Proteomics
https://www.readbyqxmd.com/read/28544558/psychiatric-and-physical-comorbidities-and-their-impact-on-the-course-of-bipolar-disorder-a-prospective-naturalistic-4-year-follow-up-study
#6
Benedikt L Amann, Joaquim Radua, Christian Wunsch, Barbara König, Christian Simhandl
OBJECTIVES: The aim of the present study was to increase the available evidence on how physical and psychiatric comorbidities influence the long-term outcome in bipolar I and II disorder. METHODS: We examined the prevalence of comorbid physical (metabolic, cardiovascular, thyroid, and neurological) diseases and psychiatric (neurotic, stress-related, somatoform, and personality) disorders and their impact on the risk of relapse in bipolar disorder. A total of 284 consecutively admitted patients with ICD-10 bipolar I (n=161) and II (n=123) disorder were followed up naturalistically over a period of 4 years...
May 22, 2017: Bipolar Disorders
https://www.readbyqxmd.com/read/28544376/hif-2%C3%AE-regulates-non-canonical-glutamine-metabolism-via-activation-of-pi3k-mtorc2-pathway-in-human-pancreatic-ductal-adenocarcinoma
#7
Wenzhu Li, Changhao Chen, Xiaohui Zhao, Huilin Ye, Yue Zhao, Zhiqiang Fu, Wenwei Pan, Shangyou Zheng, Lusheng Wei, Tianwen Nong, Zhihua Li, Rufu Chen
Hypoxia-inducible factor-2α (HIF-2α) plays an important role in increasing cancer progression and distant metastasis in a variety of tumour types. We aimed to investigate its biological function and clinical significance in human pancreatic ductal adenocarcinoma (PDAC). A total of 283 paired PDAC tissues and adjacent normal tissues were collected from patients who underwent surgery or biopsy at Sun Yat-sen Memorial Hospital between February 2004 and October 2016. In this study, we noted that HIF-2α expression was significantly up-regulated in PDAC, positively associated with disease stage, lymph-node metastasis and patient survival, and identified as an independent prognostic factor of PDAC patients...
May 24, 2017: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/28544245/ghrelin-receptor-inverse-agonists-as-a-novel-therapeutic-approach-against-obesity-related-metabolic-disease
#8
Kathrin Abegg, Lara Bernasconi, Melanie Hutter, Lynda Whiting, Claudio Pietra, Claudio Giuliano, Thomas A Lutz, Thomas Riediger
AIMS: Ghrelin is implicated in the control of energy balance and glucose homeostasis. The ghrelin receptor exhibits ligand independent constitutive activity, which can be pharmacologically exploited to induce inverse ghrelin actions. Since ghrelin receptor inverse agonists (GHSR-IA) might be effective for the treatment of obesity-related metabolic disease, we tested two novel synthetic compounds GHSR-IA1 and GHSR-IA2. MATERIALS AND METHODS: In functional cell assays, electrophysiogical and immunohistochemical experiments, we demonstrated inverse agonist activity for GHSR-IA1 and GHSR-IA2...
May 24, 2017: Diabetes, Obesity & Metabolism
https://www.readbyqxmd.com/read/28544208/ultra-high-field-magnetic-resonance-spectroscopy-in-non-alcoholic-fatty-liver-disease-novel-mechanistic-and-diagnostic-insights-of-energy-metabolism-in-non-alcoholic-steatohepatitis-and-advanced-fibrosis
#9
Stefan Traussnigg, Christian Kienbacher, Martin Gajdošík, Ladislav Valkovič, Emina Halilbasic, Judith Stift, Christian Rechling, Harald Hofer, Petra Steindl-Munda, Peter Ferenci, Fritz Wrba, Siegfried Trattnig, Martin Krššák, Michael Trauner
BACKGROUND & AIMS: With the rising prevalence of non-alcoholic fatty liver disease (NAFLD) and steatohepatitis (NASH) non-invasive tools obtaining pathomechanistic insights to improve risk stratification are urgently needed. We therefore explored high- and ultra-high-field magnetic resonance spectroscopy (MRS) to obtain novel mechanistic and diagnostic insights into alterations of hepatic lipid, cell membrane and energy metabolism across the spectrum of NAFLD. METHODS: MRS and liver biopsy were performed in 30 NAFLD patients with NAFL (n=8) or NASH (n=22)...
April 24, 2017: Liver International: Official Journal of the International Association for the Study of the Liver
https://www.readbyqxmd.com/read/28544137/phenotypic-identification-of-a-novel-autophagy-inhibitor-chemotype-targeting-lipid-kinase-vps34
#10
Herbert Waldmann, Lucas Robke, Luca Laraia, Marjorie A Carnero Corrales, Georgios Konstantinidis, Makoto Muroi, André Richters, Michael Winzker, Tobias Engbring, Stefano Tomassi, Nobumoto Watanabe, Hiroyuki Osada, Daniel Rauh, Yaowen Wu, Julian Engel
Autophagy is a critical regulator of cellular homeostasis and metabolism. Interference with this process is considered a new approach for the treatment of disease, in particular cancer and neurological disorders. Therefore, novel small molecule autophagy modulators are in high demand. We describe the discovery of autophinib, a potent autophagy inhibitor with a novel chemotype. Autophinib was identified by means of a phenotypic assay monitoring formation of autophagy-induced puncta indicating accumulation of lipidated cytosolic protein LC3 on the autophagosomal membrane...
May 22, 2017: Angewandte Chemie
https://www.readbyqxmd.com/read/28543830/weight-change-obesity-and-risk-of-prostate-cancer-progression-among-men-with-clinically-localized-prostate-cancer
#11
Barbra A Dickerman, Thomas U Ahearn, Edward Giovannucci, Meir J Stampfer, Paul L Nguyen, Lorelei A Mucci, Kathryn M Wilson
Obesity is associated with an increased risk of fatal prostate cancer. We aimed to elucidate the relevant timing and importance of obesity and weight change for prostate cancer progression. We identified 5,158 men diagnosed with localized prostate cancer (clinical stage T1/T2) from 1986-2012 in the Health Professionals Follow-up Study. Men were followed for biochemical recurrence and lethal prostate cancer (development of distant metastasis or prostate cancer-specific mortality) until 2012. Cox regression estimated hazard ratios (HRs) for body mass index (BMI) at age 21, BMI at diagnosis, "long-term" weight change from age 21 to diagnosis, and "short-term" weight change over spans of 4 and 8 years preceding diagnosis...
May 23, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28543814/intra-and-interindividual-variability-of-fatty-acid-unsaturation-in-six-different-human-adipose-tissue-compartments-assessed-by-1-h-mrs-in-vivo-at-3%C3%A2-t
#12
Jürgen Machann, Norbert Stefan, Robert Wagner, Malte Bongers, Erwin Schleicher, Andreas Fritsche, Hans-Ulrich Häring, Konstantin Nikolaou, Fritz Schick
It is generally accepted that the amount and distribution of adipose tissue (AT) in the human body play an important role in the pathogenesis of metabolic diseases. In addition, metabolic effects of released saturated fatty acids (FAs) in blood are known to be more critical than those of unsaturated FAs. However, little is known about the variability in unsaturation of FAs in various AT compartments. The aim of this prospective study was the assessment of mono- and polyunsaturated FAs in various AT compartments by localized (1) H-MRS in order to obtain insight into the intra- and interindividual variability...
May 25, 2017: NMR in Biomedicine
https://www.readbyqxmd.com/read/28543688/glycated-human-albumin-alters-mitochondrial-respiration-in-preadipocyte-3t3-l1-cells
#13
Pascal Baret, Fanny Le Sage, Cynthia Planesse, Olivier Meilhac, Anne Devin, Emmanuel Bourdon, Philippe Rondeau
Diabetes and obesity are strongly associated with increased levels of circulating advanced glycation end products (AGEs) and reactive oxygen species (ROS). These two molecular phenomena affect the physiology of adipose tissue, a biological driver of the metabolic syndrome, leading to an inflammatory profile and insulin resistance, which could contribute to obesity/diabetes-associated complications, such as cardiovascular diseases. Herein, we investigated the impact of AGEs on mitochondrial bioenergetics in murine preadipocyte cells (3T3-L1) and cellular redox homeostasis...
May 22, 2017: BioFactors
https://www.readbyqxmd.com/read/28543550/polycystic-ovary-morphology-is-associated-with-insulin-resistance-in-women-with-polycystic-ovary-syndrome
#14
So-Hyeon Hong, Yeon-Ah Sung, Young Sun Hong, Kyungah Jeong, Hyewon Chung, Hyejin Lee
BACKGROUND/OBJECTIVES: Polycystic ovary syndrome (PCOS) is a heterogeneous disorder characterised by chronic anovulation, hyperandrogenenism, polycystic ovary morphology (PCOM), and metabolic disturbances including insulin resistance and type 2 diabetes mellitus. Although insulin resistance could be associated with PCOM, recent studies have shown controversial results. The aim of this study was to determine the relationship between PCOM and insulin resistance. SUBJECTS/METHODS: This was a cross-sectional clinical study...
May 20, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28543438/humanized-mice-a-brief-overview-on-their-diverse-applications-in-biomedical-research
#15
REVIEW
Shigeyoshi Fujiwara
Model animals naturally differ from humans in various respects and results from the former are not directly translatable to the latter. One approach to address this issue is humanized mice that are defined as mice engrafted with functional human cells or tissues. In humanized mice, we can investigate the development and function of human cells or tissues (including their products encoded by human genes) in the in vivo context of a small animal. As such, humanized mouse models have played important roles that cannot be substituted by other animal models in various areas of biomedical research...
May 20, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/28543186/clinical-biochemical-and-genetic-aspects-of-sj%C3%A3-gren-larsson-syndrome
#16
REVIEW
Kye Hee Cho, Sung Han Shim, MinYoung Kim
Sjögren-Larsson syndrome (SLS) is caused by an autosomal recessive mutation in ALDH3A2, which encodes the fatty aldehyde dehydrogenase responsible for the metabolism of long-chain aliphatic aldehydes and alcohols. The pathophysiologic accumulation of aldehydes in various organs, including the skin, brain, and eyes, leads to characteristic features of ichthyosis, intellectual disability, spastic di-/quadriplegia, and low visual acuity with photophobia. The severity of the clinical manifestations thereof can vary greatly, although most patients are bound to a wheelchair due to contractures...
May 23, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28542929/the-immune-response-to-prevotella-bacteria-in-chronic-inflammatory-disease
#17
REVIEW
Jeppe Madura Larsen
The microbiota plays a central role in human health and disease by shaping immune development, immune responses, metabolism, and protecting from invading pathogens. Technical advances that allow comprehensive characterization of microbial communities by genetic sequencing have sparked the hunt for disease modulating bacteria. Emerging studies in humans have linked increased abundance of Prevotella species at mucosal sites to localized and systemic disease, including periodontitis, bacterial vaginosis, rheumatoid arthritis, metabolic disorders, and low-grade systemic inflammation...
May 19, 2017: Immunology
https://www.readbyqxmd.com/read/28542922/study-of-retinal-neurodegeneration-and-maculopathy-in-diabetic-meriones-shawi-a-particular-animal-model-with-human-like-macula
#18
Imane Hammoum, Maha Benlarbi, Ahmed Dellaa, Klaudia Szabó, Bulcsú Dékány, Dávid Csaba, Zsuzsanna Almási, Rozina I Hajdú, Rached Azaiz, Ridha Charefeddine, Ákos Lukáts, Rafika Benchouacha-Chekir
The purpose of this work was to evaluate a potentially useful animal model, Meriones shawi (M.sh) - developing metabolic X syndrome, diabetes and possessing a visual streak similar to human macula - in the study of diabetic retinopathy and diabetic macular edema (DME). Type 2 diabetes (T2D) was induced by high fat diet administration in M.sh. Body weights, blood glucose levels were monitored throughout the study. Diabetic retinal histopathology was evaluated 3 and 7 months after diabetes induction. Retinal thickness was measured, retinal cell types were labeled by immunohistochemistry and the number of stained elements were quantified...
May 20, 2017: Journal of Comparative Neurology
https://www.readbyqxmd.com/read/28542792/on-the-complexity-of-clinical-and-molecular-bases-of-neurodegeneration-with-brain-iron-accumulation
#19
REVIEW
Cristina Tello, Alejandra Darling, Vincenzo Lupo, Belén Pérez-Dueñas, Carmen Espinós
Neurodegeneration with brain iron accumulation (NBIA) are a group of inherited heterogeneous neurodegenerative rare disorders. These patients present with dystonia, spasticity, parkinsonism and neuropsychiatric disturbances, along with brain MRI evidence of iron accumulation. In sum, they are devastating disorders and to date, there is no specific treatment. Ten NBIA genes are accepted: PANK2, PLA2G6, C19orf12, COASY, FA2H, ATP13A2, WDR45, FTL, CP, and DCAF17, and. Nonetheless, a relevant percentage of patients remain without genetic diagnosis, suggesting that other novel NBIA genes remain to be discovered...
May 23, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28542653/-folate-and-pregnancy-current-concepts-it-is-required-folic-acid-supplementation
#20
Erika Castaño, Raúl Piñuñuri, Sandra Hirsch, Ana María Ronco
Folate intake during pregnancy is essential for an adequate fetal and placental development and for the long time health of the individual. Its deficiency may induce fetal pathologies, including neural tube disease (NTD). Therefore, several countries implemented public policies to fortify foods with folic acid (FA). Chile started the fortification of wheat flour with FA in the year 2000, decreasing a 43% the prevalence of NTD. However, despite the high consumption of bread (the main fortified food with FA) by our population, a high number of pregnant women consume FA supplements, thus, over passing the maximal recommended FA intake...
April 2017: Revista Chilena de Pediatría
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