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https://www.readbyqxmd.com/read/28324240/neurocognitive-profiles-in-msud-school-age-patients
#1
Juliette Bouchereau, Julie Leduc-Leballeur, Samia Pichard, Apolline Imbard, Jean-François Benoist, Marie-Thérèse Abi Warde, Jean-Baptiste Arnoux, Valérie Barbier, Anaïs Brassier, Pierre Broué, Aline Cano, Brigitte Chabrol, Gilles Damon, Claire Gay, Isabelle Guillain, Florence Habarou, Delphine Lamireau, Chris Ottolenghi, Laetitia Paermentier, Frédérique Sabourdy, Guy Touati, Hélène Ogier de Baulny, Pascale de Lonlay, Manuel Schiff
Maple syrup urine disease (MSUD), an inborn error of amino acids catabolism is characterized by accumulation of branched chain amino acids (BCAAs) leucine, isoleucine, valine and their corresponding alpha-ketoacids. Impact on the cognitive development has been reported historically, with developmental delays of varying degree. Currently, earlier diagnosis and improved management allow a better neurodevelopment, without requirement of special education. However, specific impairments can be observed, and so far, results of detailed neurocognitive assessments are not available...
March 21, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28324239/mtdna-maintenance-defects-syndromes-and-genes
#2
Carlo Viscomi, Massimo Zeviani
A large group of mitochondrial disorders, ranging from early-onset pediatric encephalopathic syndromes to late-onset myopathy with chronic progressive external ophthalmoplegia (CPEOs), are inherited as Mendelian disorders characterized by disturbed mitochondrial DNA (mtDNA) maintenance. These errors of nuclear-mitochondrial intergenomic signaling may lead to mtDNA depletion, accumulation of mtDNA multiple deletions, or both, in critical tissues. The genes involved encode proteins belonging to at least three pathways: mtDNA replication and maintenance, nucleotide supply and balance, and mitochondrial dynamics and quality control...
March 21, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28317218/rodent-models-of-genetic-and-chromosomal-variations-in-psychiatric-disorders
#3
Jun Nomura, Geetha Kannan, Toru Takumi
Elucidating the molecular basis of complex human psychiatric disorders is challenging due to the multitude of factors that underpin these disorders. Genetic and chromosomal changes are two factors that have been suggested to be involved in psychiatric disorders. Indeed, numerous risk loci have been identified in autism spectrum disorders (ASD), schizophrenia, and related psychiatric disorders. Here, we introduce genetic animal models that disturb excitatory-inhibitory (E/I) balance in the brain and animal models mirroring human chromosomal abnormalities, both of which may be implicated in ASD pathophysiology...
March 20, 2017: Psychiatry and Clinical Neurosciences
https://www.readbyqxmd.com/read/28315304/sphingosine-1-phosphate-a-double-edged-sword-in-the-brain
#4
REVIEW
Indulekha Karunakaran, Gerhild van Echten-Deckert
The physiological functions of sphingosine 1-phosphate (S1P) and its pathological roles in various diseases are increasingly being elucidated. Particularly, a growing body of literature has implicated S1P in the pathogenesis of brain related disorders. With the deciphering of more intricate aspects of S1P signalling, there is also a need to reconsider the notion of S1P only as a determinant of cell survival and proliferation. Further the concept of 'S1P-ceramide' balance as the controlling switch of cellular fate and functions needs to be refined...
March 14, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28315266/sigma-1-receptors-fine-tune-the-neuronal-networks
#5
Shang-Yi Anne Tsai, Tsung-Ping Su
The endoplasmic reticular (ER) protein sigma-1 receptor (Sig-1R) has been implicated in CNS disorders including but not limited to neurodegenerative diseases, depression , amnesia, and substance abuse. Sig-1Rs are particularly enriched in the specific domain where ER membranes make contacts with the mitochondria (MAM). Within that specific domain, Sig-1Rs play significant roles governing calcium signaling and reactive oxygen species homeostasis to maintain proper neuronal functions. Studies showed that the Sig-1R is pivotal to regulate neuroplasticity and neural survival via multiple aspects of mechanism...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28314964/increased-intake-of-energy-dense-diet-and-negative-energy-balance-in-a-mouse-model-of-chronic-psychosocial-defeat
#6
Roberto Coccurello, Adele Romano, Giacomo Giacovazzo, Bianca Tempesta, Marco Fiore, Anna Maria Giudetti, Ilaria Marrocco, Fabio Altieri, Anna Moles, Silvana Gaetani
PURPOSE: Chronic exposure to stress may represent a risk factor for developing metabolic and eating disorders, mostly driven by the overconsumption of easily accessible energy-dense palatable food, although the mechanisms involved remain still unclear. In this study, we used an ethologically oriented murine model of chronic stress caused by chronic psychosocial defeat (CPD) to investigate the effects of unrestricted access to a palatable high fat diet (HFD) on food intake, body weight, energy homeostasis, and expression of different brain neuropeptides...
March 17, 2017: European Journal of Nutrition
https://www.readbyqxmd.com/read/28314476/polydatin-alleviates-alcohol-induced-acute-liver-injury-in-mice-relevance-of-matrix-metalloproteinases-mmps-and-hepatic-antioxidants
#7
Meghana Koneru, Bidya Dhar Sahu, Sagarika Gudem, Madhusudana Kuncha, Halley Gora Ravuri, Jerald Mahesh Kumar, Eswar Kumar Kilari, Ramakrishna Sistla
BACKGROUND: Alcohol, a most commonly consumed beverage, is the foremost cause of liver injury throughout the world. Polydatin, a stilbenoid glucoside, was known to possess antioxidant and anti-inflammatory properties and is being investigated for use in various disorders. PURPOSE: The present study was intended at investigating the hepatoprotective efficacy of polydatin against acute-alcohol induced liver injury model in mice. STUDY DESIGN: C57BL/6 mice were fed with five doses of 50% ethyl alcohol (10ml/kg body weight) to induce acute liver injury...
April 15, 2017: Phytomedicine: International Journal of Phytotherapy and Phytopharmacology
https://www.readbyqxmd.com/read/28306736/identifying-predictive-motor-factors-for-falls-in-post-menopausal-breast-cancer-survivors
#8
Marek Zak, Malgorzata Biskup, Pawel Macek, Halina Krol, Szymon Krupnik, Anna Opuchlik
OBJECTIVE: Breast cancer treatment, including radical surgery, is also pursued as late as the 7th - 8th decade of women's lives. Standard physical rehabilitation procedures offered to those women are predominantly focused on attenuating specific functional deficits of the upper limb and trunk. Seldom do they entail any regimens specifically aimed at recovering overall functionality, and reducing exposure to falls-risk. The study aimed to assess potential interrelationships between the self-reported falls, individual functional capabilities and appreciably reducing exposure to falls-risk in a group of post-menopausal, post-surgical breast cancer survivors...
2017: PloS One
https://www.readbyqxmd.com/read/28304267/posttraumatic-stress-disorder-symptoms-and-family-functioning-in-adult-children-facing-parental-cancer-a-comparison-study
#9
Ricardo J Teixeira, M Graça Pereira
This study analyzed posttraumatic stress disorder (PTSD) symptoms and family functioning in a sample of adult children caregivers of cancer patients and in a group of adult children of nonchronically ill parents. Participants completed measures of family functioning and PTSD symptoms. The parental cancer group was subdivided into PTSD subgroups, and significant differences, on family functioning, were found. In the parental cancer group, the predictors of PTSD symptoms were being a woman and having an enmeshed or chaotic family functioning...
August 1, 2016: Research and Theory for Nursing Practice
https://www.readbyqxmd.com/read/28303465/pharmacotherapy-in-generalized-anxiety-disorder-novel-experimental-medicine-models-and-emerging-drug-targets
#10
REVIEW
David S Baldwin, Ruihua Hou, Robert Gordon, Nathan T M Huneke, Matthew Garner
Many pharmacological and psychological approaches have been found efficacious in patients with generalized anxiety disorder (GAD), but many treatment-seeking patients will not respond and others will relapse despite continuing with interventions that initially had beneficial effects. Other patients will respond but then stop treatment early because of untoward effects such as sexual dysfunction, drowsiness, and weight gain. There is much scope for the development of novel approaches that could have greater overall effectiveness or acceptability than currently available interventions or that have particular effectiveness in specific clinical subgroups...
March 16, 2017: CNS Drugs
https://www.readbyqxmd.com/read/28303071/the-regulation-of-iron-absorption-and-homeostasis
#11
REVIEW
Daniel F Wallace
Iron is an essential element in biology, required for numerous cellular processes. Either too much or too little iron can be detrimental, and organisms have developed mechanisms for balancing iron within safe limits. In mammals there are no controlled mechanisms for the excretion of excess iron, hence body iron homeostasis is regulated at the sites of absorption, utilisation and recycling. This review will discuss the discoveries that have been made in the past 20 years into advancing our understanding of iron homeostasis and its regulation...
May 2016: Clinical Biochemist. Reviews
https://www.readbyqxmd.com/read/28301889/geburtshilfe-an%C3%A3-sthesie-bei-exit-prozedur
#12
Alexander Torossian
The ex utero intrapartum treatment (EXIT) procedure is performed as a part of an extended caesarean section for example to treat fetal airway disorders. For treatment, optimal uterine relaxation is necessary, however utero-placental supply of the fetus has to be guaranteed as well. "Balanced" anesthesia, tocolysis and tight maternal arterial blood pressure control are recommended. Standard fetal monitoring comprises pulse oxymetry and echocardiography. The article describes the physiology and anesthestic goals of the EXIT procedure, discusses alternative anesthesia techniques and gives an outlook on emerging progress...
March 2017: Anästhesiologie, Intensivmedizin, Notfallmedizin, Schmerztherapie: AINS
https://www.readbyqxmd.com/read/28299658/clinical-relevance-of-runx1-and-cbfb-alterations-in-acute-myeloid-leukemia-and-other-hematological-disorders
#13
Klaus H Metzeler, Clara D Bloomfield
The translocation t(8;21), leading to a fusion between the RUNX1 gene and the RUNX1T1 locus, was the first chromosomal translocation identified in cancer. Since the first description of this balanced rearrangement in a patient with acute myeloid leukemia (AML) in 1973, RUNX1 translocations and point mutations have been found in various myeloid and lymphoid neoplasms. In this chapter, we summarize the currently available data on the clinical relevance of core binding factor gene alterations in hematological disorders...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28297592/a-systematized-review-of-atypical-antipsychotics-in-pregnant-women-balancing-between-risks-of-untreated-illness-and-risks-of-drug-related-adverse-effects
#14
Sarah Tosato, Umberto Albert, Simona Tomassi, Felice Iasevoli, Claudia Carmassi, Silvia Ferrari, Maria Giulia Nanni, Alessandra Nivoli, Umberto Volpe, Anna Rita Atti, Andrea Fiorillo
OBJECTIVE: To summarize risks related to (1) illness and (2) second-generation antipsychotic (SGA) treatment in pregnant women and their offspring. Concerning illness-related risks, we focused on bipolar disorder and schizophrenia, psychiatric disorders for which SGAs are preferentially prescribed. DATA SOURCES: PubMed, Ovid, Scopus, PsycINFO, and Cochrane Library were searched from the date of the first available article to October 2015 using the following key terms: pregnancy OR gestation OR bipolar disorder OR schizophrenia...
March 14, 2017: Journal of Clinical Psychiatry
https://www.readbyqxmd.com/read/28296593/protocatechuic-acid-enhances-osteogenesis-but-inhibits-adipogenesis-in-c3h10t1-2-and-3t3-l1-cells
#15
Adriana Rivera-Piza, Young Jae An, Do Kyung Kim, Sung-Hyen Lee, Jung-Bong Kim, Jung-Sook Choi, Sung-Joon Lee
Abnormal activation of adipogenesis in mesenchymal stem cells (MSCs) and preadipocyte cells is associated with human metabolic disorders, such as osteoporosis and obesity. This study investigated the biological effects of protocatechuic acid (PCA) on the modulation of osteogenesis and adipogenesis in cultured cells. PCA stimulation of MSCs significantly increased intracellular mineralization during osteogenesis, but reduced lipid accumulation in both MSCs and 3T3-L1 preadipocyte cells during adipogenesis. Reverse transcription-polymerase chain reaction and immunoblotting analyses showed a dose-dependent upregulation of proosteogenic runt-related transcription factor 2 due to induction of β-catenin...
March 2017: Journal of Medicinal Food
https://www.readbyqxmd.com/read/28294135/bidirectional-control-of-anxiety-related-behaviours-in-mice-role-of-inputs-arising-from-the-ventral-hippocampus-to-the-lateral-septum-and-medial-prefrontal-cortex
#16
Gustavo Morrone Parfitt, Robin Nguyen, Jee Yoon Bang, Afif Aqrabawi, Matthew M Tran, D Kanghoon Seo, Blake A Richards, Jun Chul Kim
Anxiety is an adaptive response to potentially threatening situations. Exaggerated and uncontrolled anxiety responses become maladaptive and lead to anxiety disorders. Anxiety is shaped by a network of forebrain structures, including the hippocampus, septum, and prefrontal cortex. In particular, neural inputs arising from the ventral hippocampus (vHPC) to the lateral septum (LS) and medial prefrontal cortex (mPFC) are thought to serve as principal components of the anxiety circuit. However, the role of vHPC-to-LS and vHPC-to-mPFC signals in anxiety is unclear, as no study has directly compared their behavioural contribution at circuit level...
March 15, 2017: Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/28293171/the-role-of-semaphorin-3a-in-bone-remodeling
#17
REVIEW
Zhenxia Li, Jin Hao, Xin Duan, Nan Wu, Zongke Zhou, Fan Yang, Juan Li, Zhihe Zhao, Shishu Huang
Bone remodeling occurs at the bone surface throughout adult life and associates bony quantity and quality. This process is a balance between the osteoblastic bone formation and osteoclastic bone resorption, which cross-talks together. Semaphorin 3A is a membrane-associated secreted protein and regarded as a diffusible axonal chemorepellent, which has been identified in the involvement of bone resorption and formation synchronously. However, the role of Semaphorin 3A in bone homeostasis and diseases remains elusive, in particular the association to osteoblasts and osteoclasts...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/28293105/the-effect-of-visual-biofeedback-on-balance-in-elderly-population-a-systematic-review
#18
REVIEW
Hammad Alhasan, Victoria Hood, Frederick Mainwaring
BACKGROUND: Balance is commonly affected by multiple factors, especially among the elderly population. Visual biofeedback (VBF) is an intervention tool that can be used in balance rehabilitation. AIM: This study aimed to systematically review randomized controlled trials that examine whether VBF training is effective in improving balance in an elderly population. DATA SOURCES: Three databases were searched: CIAHL, EMBASE, and MEDLINE. The searches were limited to the period from 2010 to 2016...
2017: Clinical Interventions in Aging
https://www.readbyqxmd.com/read/28292989/-renal-disorders-and-drug-therapy
#19
Satoru Muto
In recent years, among patients treated with anticancer chemotherapy, the rate of chronic kidney disease has been increasing. Nephropathy is a major potential adverse event in cancer drug therapy. Anticancer chemotherapy, particularly in patients with comorbid chronic kidney disease, requires sufficient examination of the balance between the potential therapeutic benefit and the risk of decreased renal function. The overwhelming diversity of drugs used to treat cancer involves equally diverse nephropathy pathologies and dose adjustments...
March 2017: Gan to Kagaku Ryoho. Cancer & Chemotherapy
https://www.readbyqxmd.com/read/28292531/stress-overeating-and-obesity-insights-from-human-studies-and-preclinical-models
#20
REVIEW
Maria Razzoli, Carolyn Pearson, Scott Crow, Alessandro Bartolomucci
Eating disorders and obesity have become predominant in human society. Their association to modern lifestyle, encompassing calorie-rich diets, psychological stress, and comorbidity with major diseases are well documented. Unfortunately the biological basis remains elusive and the pharmacological treatment inadequate, in part due to the limited availability of valid animal models. Human research on binge eating disorder (BED) proves a strong link between stress exposure and bingeing: state-levels of stress and negative affect are linked to binge eating in individuals with BED both in laboratory settings and the natural environment...
March 11, 2017: Neuroscience and Biobehavioral Reviews
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