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https://www.readbyqxmd.com/read/27906503/neurodevelopmental-disorders
#1
REVIEW
Hana D'Souza, Annette Karmiloff-Smith
Recent technological advances allow us to measure how the infant brain functions in ways that were not possible just a decade ago. Although methodological advances are exciting, we must also consider how theories guide research: what we look for and how we explain what we find. Indeed, the ways in which research findings are interpreted affects the design of policies, educational practices, and interventions. Thus, the theoretical approaches adopted by scientists have a real impact on the lives of children with neurodevelopmental disorders (NDDs) and their families, as well as on the wider community...
December 1, 2016: Wiley Interdisciplinary Reviews. Cognitive Science
https://www.readbyqxmd.com/read/27906494/alcohol-dependent-molecular-adaptations-of-the-nmda-receptor-system
#2
REVIEW
Nadege Morisot, Dorit Ron
Phenotypes such as motivation to consume alcohol, goal-directed alcohol seeking and habit formation contribute to the mechanisms underlying heavy alcohol use. Learning and memory processes greatly contribute to the establishment and maintenance of these behavioral phenotypes. The N-Methyl-D-Aspartate receptor (NMDAR) is a driving force of synaptic plasticity, a key cellular hallmark of learning and memory. Here, we describe data in rodents and humans linking signaling molecules that center around the NMDARs and behaviors associated with the development and/or maintenance of alcohol abuse...
December 1, 2016: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/27906414/delphi-consensus-on-attention-deficit-hyperactivity-disorder-adhd-evaluation-by-a-panel-of-experts
#3
Amaia Hervás, Teresa de Santos, Javier Quintero, Pedro M Ruíz-Lázaro, José A Alda, Alberto Fernández-Jaén, Josep A Ramos-Quiroga
INTRODUCTION: Attention Deficit Hyperactivity Disorder (ADHD) is one of the most prevalent neurodevelopmental disorders in childhood, which is frequently maintained in adolescent and adult age. It presents great clinical heterogeneity, significantly affecting the functioning of those who suffer it. Although drug treatments obtain results by themselves, the approach should be multidisciplinary and be adapted to the specific needs of each patient and his/ her family. Given the variety of drugs currently available to treat ADHD, there are diverse opinions on the most effective way to approach this disorder...
November 2016: Actas Españolas de Psiquiatría
https://www.readbyqxmd.com/read/27906412/multiple-cluster-axis-ii-comorbidity-and-functional-outcome-in-severe-patients-with-borderline-personality-disorder
#4
Nerea Palomares, Antonia McMaster, Marina Díaz-Marsá, Irene de la Vega, Ana Montes, José Luis Carrasco
BACKGROUND: Current literature suggests that personality disorder comorbidity negatively contributes to both the severity and prognosis of other disorders; however, little literature has been devoted to its influence on borderline personality disorder (BPD). The objective of the present work is to study comorbidity with other personality disorders in a severe clinical sample of patients with BPD, and its relationship with global functionality. METHODS: A sample of 65 patients with severe borderline personality disorder was included in the study...
November 2016: Actas Españolas de Psiquiatría
https://www.readbyqxmd.com/read/27906199/microduplication-of-the-arid1a-gene-causes-intellectual-disability-with-recognizable-syndromic-features
#5
Marie Bidart, Michèle El Atifi, Sarra Miladi, John Rendu, Véronique Satre, Pierre F Ray, Caroline Bosson, Françoise Devillard, Daphné Lehalle, Valérie Malan, Jeanne Amiel, Maria Antonietta Mencarelli, Margherita Baldassarri, Alessandra Renieri, Jill Clayton-Smith, Gaëlle Vieville, Julien Thevenon, Florence Amblard, François Berger, Pierre-Simon Jouk, Charles Coutton
PURPOSE: To determine whether duplication of the ARID1A gene is responsible for a new recognizable syndrome. METHODS: We describe four patients with a 1p36.11 microduplication involving ARID1A as identified by array-comparative genomic hybridization . We performed comparative transcriptomic analysis of patient-derived fibroblasts using RNA sequencing and evaluated the impact of ARID1A duplication on the cell cycle using fluorescence-activated cell sorting. Functional relationships between differentially expressed genes were investigated with ingenuity pathway analysis (IPA)...
December 1, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/27906186/preimplantation-factor-is-an-anti-apoptotic-effector-in-human-trophoblasts-involving-p53-signaling-pathway
#6
Hadia Moindjie, Esther Dos Santos, Rita-Josiane Gouesse, Nelly Swierkowski-Blanchard, Valérie Serazin, Eytan R Barnea, François Vialard, Marie-Noëlle Dieudonné
From the earliest stages of gestation, embryonic-maternal interaction has a key role in a successful pregnancy. Various factors present during gestation may significantly influence this type of juxta/paracrine interaction. PreImplantation Factor (PIF) is a recently identified factor with activity at the fetomaternal interface. PIF is secreted by viable embryos and directly controls placental development by increasing the invasive capacity of human extravillous trophoblasts (EVTs). To further specify PIF's role in the human placenta, we analyzed the genome-wide expression profile of the EVT in the presence of a synthetic PIF analog (sPIF)...
December 1, 2016: Cell Death & Disease
https://www.readbyqxmd.com/read/27906119/degrading-traumatic-memories-with-eye-movements-a-pilot-functional-mri-study-in-ptsd
#7
Kathleen Thomaes, Iris M Engelhard, Marit Sijbrandij, Danielle C Cath, Odile A Van den Heuvel
BACKGROUND: Eye movement desensitization and reprocessing (EMDR) is an effective treatment for posttraumatic stress disorder (PTSD). During EMDR, the patient recalls traumatic memories while making eye movements (EMs). Making EMs during recall is associated with decreased vividness and emotionality of traumatic memories, but the underlying mechanism has been unclear. Recent studies support a "working-memory" (WM) theory, which states that the two tasks (recall and EMs) compete for limited capacity of WM resources...
2016: European Journal of Psychotraumatology
https://www.readbyqxmd.com/read/27906116/embracing-change-striated-for-smooth-muscle-replacement-in-esophagus-development
#8
REVIEW
Robert S Krauss, Daisuke Chihara, Anthony I Romer
The esophagus functions to transport food from the oropharyngeal region to the stomach via waves of peristalsis and transient relaxation of the lower esophageal sphincter. The gastrointestinal tract, including the esophagus, is ensheathed by the muscularis externa (ME). However, while the ME of the gastrointestinal tract distal to the esophagus is exclusively smooth muscle, the esophageal ME of many vertebrate species comprises a variable amount of striated muscle. The esophageal ME is initially composed only of smooth muscle, but its developmental maturation involves proximal-to-distal replacement of smooth muscle with striated muscle...
August 8, 2016: Skeletal Muscle
https://www.readbyqxmd.com/read/27906103/progressive-impairment-of-cav1-1-function-in-the-skeletal-muscle-of-mice-expressing-a-mutant-type-1-cu-zn-superoxide-dismutase-g93a-linked-to-amyotrophic-lateral-sclerosis
#9
Donald Beqollari, Christin F Romberg, Gabriella Dobrowolny, Martina Martini, Andrew A Voss, Antonio Musarò, Roger A Bannister
BACKGROUND: Amyotrophic lateral sclerosis (ALS) is an adult-onset neurodegenerative disorder that is typically fatal within 3-5 years of diagnosis. While motoneuron death is the defining characteristic of ALS, the events that underlie its pathology are not restricted to the nervous system. In this regard, ALS muscle atrophies and weakens significantly before presentation of neurological symptoms. Since the skeletal muscle L-type Ca(2+) channel (CaV1.1) is a key regulator of both mass and force, we investigated whether CaV1...
June 23, 2016: Skeletal Muscle
https://www.readbyqxmd.com/read/27905952/mental-health-and-urban-living-in-sub-saharan-africa-major-depressive-episodes-among-the-urban-poor-in-ouagadougou-burkina-faso
#10
Géraldine Duthé, Clémentine Rossier, Doris Bonnet, Abdramane Bassiahi Soura, Jamaica Corker
BACKGROUND: In sub-Saharan African cities, the epidemiological transition has shifted a greater proportion of the burden of non-communicable diseases, including mental and behavioral disorder, to the adult population. The burden of major depressive disorder and its social risk factors in the urban sub-Saharan African population are not well understood and estimates vary widely. We conducted a study in Ouagadougou, Burkina Faso, in order to estimate the prevalence of major depressive episodes among adults in this urban setting...
May 5, 2016: Population Health Metrics
https://www.readbyqxmd.com/read/27905548/neurexin-regulates-nighttime-sleep-by-modulating-synaptic-transmission
#11
Huawei Tong, Qian Li, Zi Chao Zhang, Yi Li, Junhai Han
Neurexins are cell adhesion molecules involved in synaptic formation and synaptic transmission. Mutations in neurexin genes are linked to autism spectrum disorders (ASDs), which are frequently associated with sleep problems. However, the role of neurexin-mediated synaptic transmission in sleep regulation is unclear. Here, we show that lack of the Drosophila α-neurexin homolog significantly reduces the quantity and quality of nighttime sleep and impairs sleep homeostasis. We report that neurexin expression in Drosophila mushroom body (MB) αβ neurons is essential for nighttime sleep...
December 1, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27905499/the-correlation-between-plasma-brain-derived-neurotrophic-factor-and-cognitive-function-in-bipolar-disorder-is-modulated-by-the-bdnf-val66met-polymorphism
#12
Sheng-Yu Lee, Tzu-Yun Wang, Shiou-Lan Chen, Yun-Hsuan Chang, Po-See Chen, San-Yuan Huang, Nian-Sheng Tzeng, Liang-Jen Wang, I Hui Lee, Kao Chin Chen, Yen Kuang Yang, Yi-Hsin Yang, Ru-Band Lu, Cheng-Sheng Chen
We explored the effect of the Brain-derived neurotrophic factor (BDNF) Val66Met polymorphism (rs6265) on correlation between changes in plasma BDNF levels with cognitive function and quality of life (QoL) after 12 weeks of treatment in bipolar disorder (BD). Symptom severity and plasma BDNF levels were assessed upon recruitment and during weeks 1, 2, 4, 8 and 12. QoL, the Wisconsin Card Sorting Test (WCST), and the Conners' Continuous Performance Test (CPT) were assessed at baseline and endpoint. The BDNF Val66Met polymorphism was genotyped...
December 1, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27905440/organization-and-functions-of-mglu-and-gabab-receptor-complexes
#13
Jean-Philippe Pin, Bernhard Bettler
The neurotransmitters glutamate and γ-aminobutyric acid (GABA) transmit synaptic signals by activating fast-acting ligand-gated ion channels and more slowly acting G-protein-coupled receptors (GPCRs). The GPCRs for these neurotransmitters, metabotropic glutamate (mGlu) and GABAB receptors, are atypical GPCRs with a large extracellular domain and a mandatory dimeric structure. Recent studies have revealed how these receptors are activated through multiple allosteric interactions between subunit domains. It emerges that the molecular complexity of these receptors is further increased through association with trafficking, effector and regulatory proteins...
December 1, 2016: Nature
https://www.readbyqxmd.com/read/27905389/-lipid-profile-and-psychometric-traits-in-patients-with-psychosomatic-disorders-and-chronic-cerebral-ischemia
#14
A V Shevchenko, B M Doronin, V B Kuznetsova, T G Amstislavskaya
AIM: To explore the correlation of serum cholesterol and triglycerides with psychometric traits in patients with psychosomatic disorders and chronic cerebral ischemia (CCI). MATERIAL AND METHODS: One hundred and ten patients with CCI, aged from 46 to 76 years, were examined. Total cholesterol and triglycerides were measured in the blood. A battery of tests for assessment of cognitive functions and neurotic traits was used. RESULTS: The level of cholesterol was higher in patients with post-infarction cardiosclerosis (PICS) compared to patients with CCI without psychosomatic disorders but did not differ from that in patients with gastric ulcer (GU)...
2016: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/27905384/-oxidative-stress-as-an-indicator-of-metabolic-disorders-in-the-pathogenesis-of-cerebral-stroke
#15
M A Lutsky, A M Zemskov, V V Razuvaeva, Yu P Lushnikova, O Yu Karpova
AIM: To verify the oxidative stress as an indicator of metabolic disorders in the complex pathogenesis of hemorrhagic and ischemic stroke. MATERIAL AND METHODS: The study included 50 hemorrhagic stroke patients and 50 ischemic stroke patients. A control group consisted of 20 age-matched healthy subjects. In total 12 biochemical parameters, including blood indicators, indicators of free-radical oxidation (ketodiens, diene conjugates, malonic aldehyde, bityrosin, Schiff bases) and endogenous system antioxidant defense (vitamin E, reduced glutathione, total antioxidative activity, superoxide dismutase, glutathione peroxidase, glutathione reductase, catalase) were determined...
2016: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/27905373/-enteral-distress-syndrome-in-surgery-definition-pathogenesis-diagnosis
#16
A P Vlasov, V A Trofimov, T I Grigor'eva, V A Shibitov, P A Vlasov
It was performed a comprehensive experimental and clinical study of functional and metabolic status of the intestine in acute peritonitis, pancreatic necrosis, acute intestinal obstruction. We obtained objective data of impaired barrier function based on levels of toxins in arterial and mesenteric venous blood. Association of organ and organismic homeostatic changes was revealed. It was proved an important role of membrane-destabilizing processes in intestinal epithelium as a cause of enteral insufficiency...
2016: Khirurgiia
https://www.readbyqxmd.com/read/27905362/-characteristics-of-parkinson-s-disease-course-in-the-heterozygous-carriage-of-mutations-in-the-glucocerebrosidase-a-gene
#17
O A Gan'kina, E E Vasenina, O S Levin, E Yu Fedotova, S N Illarioshkin
Parkinson's disease (PD) is a common neurodegenerative disease. Literature sources indicate the association of PD and mutations in the glucocerebrosidase A (GBA) gene. According to our study, the frequency of the two most common mutations in the GBA gene, N370S and L444P, is 1.85%. Mutation carriers have slower progression of motor symptoms, but are more likely to develop drug-induced motor fluctuations and dyskinesia. In carriers of GBA mutations, the severity of cognitive impairment corresponds to age-matched patients without mutations...
2016: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/27905298/haploinsufficiency-of-the-folliculin-gene-leads-to-impaired-functions-of-lung-fibroblasts-in-patients-with-birt-hogg-dub%C3%A3-syndrome
#18
Yoshito Hoshika, Fumiyuki Takahashi, Shinsaku Togo, Muneaki Hashimoto, Takeshi Nara, Toshiyuki Kobayashi, Fariz Nurwidya, Hideyuki Kataoka, Masatoshi Kurihara, Etsuko Kobayashi, Hiroki Ebana, Mika Kikkawa, Katsutoshi Ando, Koichi Nishino, Okio Hino, Kazuhisa Takahashi, Kuniaki Seyama
Birt-Hogg-Dubé syndrome (BHDS) is an autosomal dominant inherited disorder caused by germline mutations in the FLCN gene, and characterized by skin fibrofolliculomas, multiple lung cysts, spontaneous pneumothorax, and renal neoplasms. Pulmonary manifestations frequently develop earlier than other organ involvements, prompting a diagnosis of BHDS However, the mechanism of lung cyst formation and pathogenesis of pneumothorax have not yet been clarified. Fibroblasts were isolated from lung tissues obtained from patients with BHDS (n = 12) and lung cancer (n = 10) as controls...
November 2016: Physiological Reports
https://www.readbyqxmd.com/read/27905199/high-prevalence-of-anti-tsh-receptor-antibody-in-fibromyalgia-syndrome
#19
Kenya Nishioka, Toyoyoshi Uchida, Chie Usui, Ryota Tanaka, Takashi Matsushima, Yoshifuji Matsumoto, Ikuro Nakamura, Kusuki Nishioka, Nobutaka Hattori
AIM: Fibromyalgia syndrome (FMS) is defined as chronic widespread pain that cannot be accounted for by any other medical disorder. Our aim was to explore the prevalence of thyroid autoimmunity in patients with FMS. METHODS: For determining thyroid function in 207 FMS patients, we tested for the titers of free tri-iodothyronine, free thyroxine, thyroid-stimulating hormone (TSH), anti-thyroid peroxidase antibody (TPOAb), anti-thyroglobulin antibody (TgAb) and anti-TSH receptor antibody (TRAb)...
November 30, 2016: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/27905107/co-operative-suppression-of-inflammatory-responses-in-human-dendritic-cells-by-plant-proanthocyanidins-and-products-from-the-parasitic-nematode-trichuris-suis
#20
Andrew R Williams, Elsenoor J Klaver, Lisa C Laan, Aina Ramsay, Christos Fryganas, Rolf Difborg, Helene Kringel, Jess D Reed, Irene Mueller-Harvey, Søren Skov, Irma van Die, Stig M Thamsborg
Interactions between dendritic cells (DCs) and environmental, dietary and pathogen antigens play a key role in immune homeostasis and regulation of inflammation. Dietary polyphenols such as proanthocyanidins (PAC) may reduce inflammation, and we therefore hypothesized that PAC may suppress lipopolysaccharide (LPS) -induced responses in human DCs and subsequent T helper type 1 (Th1) -type responses in naive T cells. Moreover, we proposed that, because DCs are likely to be exposed to multiple stimuli, the activity of PAC may synergise with other bioactive molecules that have anti-inflammatory activity, e...
November 7, 2016: Immunology
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