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https://www.readbyqxmd.com/read/28434076/%C3%AE-synuclein-nonhuman-primate-models-of-parkinson-s-disease
#1
REVIEW
David J Marmion, Jeffrey H Kordower
Proper understanding of the mechanism(s) by which α-synuclein misfolds and propagates may hold the key to unraveling the complex pathophysiology of Parkinson's disease. A more complete understanding of the disease itself, as well as establishing animal models that fully recapitulate pathological and functional disease progression, are needed to develop treatments that will delay, halt or reverse the disease course. Traditional neurotoxin-based animal models fail to mimic crucial aspects of Parkinson's and thus are not relevant for the study of neuroprotection and disease-modifying therapies...
April 22, 2017: Journal of Neural Transmission
https://www.readbyqxmd.com/read/28434050/prevalence-of-toxoplasma-gondii-infection-in-hiv-infected-patients-and-food-animals-and-direct-genotyping-of-t-gondii-isolates-southern-ghana
#2
Faustina Pappoe, Weisheng Cheng, Lin Wang, Yuanling Li, Dorcas Obiri-Yeboah, Samuel Victor Nuvor, Henock Ambachew, Xiaodong Hu, Qingli Luo, Deyong Chu, Yuanhong Xu, Jilong Shen
Toxoplasma gondii is of public health and veterinary importance causing severe diseases in immunocompromised individuals including HIV/AIDS patients and in congenital cases and animals. There is limited information on the epidemiology of T. gondii infection in humans, particularly HIV patients and food animals and the parasite genotypes in Ghana. A total of 394 HIV-infected patients from three hospitals were screened for T. gondii anti-IgG and IgM using ELISA. DNAs from blood samples of seropositve participants and 95 brain tissues of food animals were PCR assayed to detect Toxoplasma gra6...
April 22, 2017: Parasitology Research
https://www.readbyqxmd.com/read/28434033/the-gut-microbiome-as-a-target-for-prevention-and-treatment-of-hyperglycaemia-in-type-2-diabetes-from-current-human-evidence-to-future-possibilities
#3
REVIEW
Louise Brunkwall, Marju Orho-Melander
The totality of microbial genomes in the gut exceeds the size of the human genome, having around 500-fold more genes that importantly complement our coding potential. Microbial genes are essential for key metabolic processes, such as the breakdown of indigestible dietary fibres to short-chain fatty acids, biosynthesis of amino acids and vitamins, and production of neurotransmitters and hormones. During the last decade, evidence has accumulated to support a role for gut microbiota (analysed from faecal samples) in glycaemic control and type 2 diabetes...
April 22, 2017: Diabetologia
https://www.readbyqxmd.com/read/28433926/discredited-legacy-stigma-and-familial-amyloid-polyneuropathy-in-northwestern-portugal
#4
Álvaro Mendes, Liliana Sousa, Jorge Sequeiros, Angus Clarke
RATIONALE: Genetic inherited conditions may result in feelings of stigmatisation, mainly because of visible physical appearance and its transmissibility to offspring. OBJECTIVE: This article reports accounts of stigmatisation from Portuguese patients affected by the inherited neurodegenerative disease, familial amyloid polyneuropathy (FAP), living in the largest cluster of patients worldwide. METHOD: We draw on semi-structured interviews conducted with individuals at-risk or affected by FAP, recruited through the national patients' association, about their experiences of stigmatisation related to the illness...
April 15, 2017: Social Science & Medicine
https://www.readbyqxmd.com/read/28433924/the-metabolic-fate-of-isotopically-labeled-trimethylamine-n-oxide-tmao-in-humans
#5
Siraphat Taesuwan, Clara E Cho, Olga V Malysheva, Erica Bender, Julia H King, Jian Yan, Anna E Thalacker-Mercer, Marie A Caudill
Trimethylamine-N-oxide (TMAO) is associated with chronic disease risk. However, little is known about the metabolic fate of dietary TMAO. This study sought to quantitatively elucidate the metabolic fate of orally consumed TMAO in humans. As part of a crossover feeding study, healthy young men (n=40) consumed 50-mg deuterium-labeled methyl d9-TMAO (d9-TMAO), and enrichments of TMAO and its derivatives were measured in blood for 6 h, urine and stool, as well as skeletal muscle in a subset of men (n=6). Plasma d9-TMAO was detected as early as 15 min, increased until 1 h and remained elevated through the 6-h period...
April 13, 2017: Journal of Nutritional Biochemistry
https://www.readbyqxmd.com/read/28433894/a-functional-snp-mcp-1-2518a-g-predispose-to-renal-disorder-in-indian-systemic-lupus-erythematosus-patients
#6
Vinod D Umare, Vandana D Pradhan, Anjali G Rajadhyaksha, Kanjaksha Ghosh, Anita H Nadkarni
Systemic Lupus Erythematosus (SLE) is a clinically heterogeneous chronic, inflammatory autoimmune disorder that affects multiple organs where exact etiology of the disease is not yet clearly understood. Various evidences suggest that genetic polymorphisms in inflammatory mediators like cytokines and chemokines may influence development of the disease. Here, we investigated whether functional polymorphism at the Monocyte Chemoattractant Protein-1 (MCP-1) regulatory region associates with disease phenotype in Indian SLE patients...
April 20, 2017: Cytokine
https://www.readbyqxmd.com/read/28433665/advancing-the-science-of-myocardial-recovery-with-mechanical-circulatory-support-a-working-group-of-the-national-heart-lung-and-blood-institute
#7
Stavros G Drakos, Francis D Pagani, Martha S Lundberg, J Timothy Baldwin
The medical burden of heart failure (HF) has spurred interest in clinicians and scientists to develop therapies to restore the function of a failing heart. To advance this agenda, the National Heart Lung Blood Institute (NHLBI) convened a Working Group of experts on June 2-3, 2016 in Bethesda Maryland to develop recommendations for the NHLBI aimed at advancing the science of cardiac recovery in the setting of mechanical circulatory support (MCS). MSC devices effectively reduce volume and pressure overload that drives the cycle of progressive myocardial dysfunction, thereby triggering structural and functional reverse remodeling...
April 19, 2017: Journal of Cardiac Failure
https://www.readbyqxmd.com/read/28433569/vitamin-d-binding-protein-rs7041-polymorphism-and-high-residual-platelet-reactivity-in-patients-receiving-dual-antiplatelet-therapy-with-clopidogrel-or-ticagrelor
#8
Monica Verdoia, Veronica Daffara, Patrizia Pergolini, Roberta Rolla, Paolo Marino, Giorgio Bellomo, Alessandro Carriero, Giuseppe De Luca
BACKGROUND: Vitamin D deficiency represents a major health problem in general population, especially for its association with cardiovascular disorders and thrombotic risk, even in patients on dual antiplatelet therapy (DAPT). Vitamin D Binding Protein (VDBP) is the main transporter of vitamin D in the bloodstream and genetic polymorphisms of this protein have been shown to account for a significant variability of vitamin D levels and its systemic effects. Contrasting data have linked the rs7041 T→G substitution with cardiovascular disease...
April 19, 2017: Vascular Pharmacology
https://www.readbyqxmd.com/read/28433481/genetics-of-common-complex-diseases-a-view-from-iceland
#9
REVIEW
David O Arnar, Runolfur Palsson
In the past decade, large scale genotyping has led to discoveries of numerous sequence variants that confer increased risk of many common complex diseases. Interestingly, a substantial proportion of pioneering genetic work has originated from the small nation of Iceland and has been facilitated by an extensive genealogy database. We provide examples of relevant observations made so far in several major disease categories central to internal medicine practice. Some of these findings offer new mechanistic clues into the pathophysiology of common disorders and may suggest novel approaches in diagnosis and drug therapy...
April 19, 2017: European Journal of Internal Medicine
https://www.readbyqxmd.com/read/28433476/patient-with-multiple-acyl-coa-dehydrogenation-deficiency-disease-and-flad1-mutations-benefits-from-riboflavin-therapy
#10
M Auranen, A Paetau, P Piirilä, A Pohju, T Salmi, A Lamminen, M Löfberg, S Mosegaard, R K Olsen, T Tyni
Multiple acyl-CoA dehydrogenation deficiency is genetically heterogenous metabolic disease with mutations in genes involved in electron transfer to the mitochondrial respiratory chain. Disease symptoms vary from severe neonatal form to late-onset presentation with metabolic acidosis, lethargy, vomiting, muscle pain and weakness. Riboflavin therapy has been shown to ameliorate diseases symptoms in some of these patients. Recently, mutations in FAD synthase have been described to cause multiple acyl-CoA dehydrogenation deficiency...
March 9, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28433418/binge-alcohol-alters-pnpla3-levels-in-liver-through-epigenetic-mechanism-involving-histone-h3-acetylation
#11
REVIEW
Ricardo J Restrepo, Robert W Lim, Ronald J Korthuis, Shivendra D Shukla
The human PNPLA3 (patatin-like phospholipase domain-containing 3) gene codes for a protein which is highly expressed in adipose tissue and liver, and is implicated in lipid homeostasis. While PNPLA3 protein contains regions homologous to functional lipolytic proteins, the regulation of its tissue expression is reflective of lipogenic genes. A naturally occurring genetic variant of PNPLA3 in humans has been linked to increased susceptibility to alcoholic liver disease. We have examined the modulatory effect of alcohol on PNPLA3 protein and mRNA expression as well as the association of its gene promoter with acetylated histone H3K9 by chromatin immunoprecipitation (ChIP) assay in rat hepatocytes in vitro, and in vivo in mouse and rat models of acute binge, chronic, and chronic followed by acute binge ethanol administration...
March 12, 2017: Alcohol
https://www.readbyqxmd.com/read/28433410/echinococcus-oligarthrus-in-the-subtropical-region-of-argentina-first-integration-of-morphological-and-molecular-analyses-determines-two-distinct-populations
#12
Juan Pablo Arrabal, Hector Gabriel Avila, Maria Romina Rivero, Federico Camicia, Martin Miguel Salas, Sebastián A Costa, Carlos G Nocera, Mara C Rosenzvit, Laura Kamenetzky
Echinococcosis is a parasitic zoonosis that is considered as a neglected disease by the World Health Organization. The species Echinococcus oligarthrus is one of the causative agents of Neotropical echinococcosis, which is a poorly understood disease that requires a complex medical examination, may threaten human life, and is frequently associated with a low socioeconomic status. Morphological and genetic diversity in E. oligarthrus remains unknown. The aim of this work is to identify and characterize E. oligarthrus infections in sylvatic animals from the Upper Paraná Atlantic Forest in the province of Misiones, Argentina, by following an integrative approach that links morphological, genetic and ecological aspects...
March 27, 2017: Veterinary Parasitology
https://www.readbyqxmd.com/read/28433111/epidemiology-and-introduction-to-the-clinical-presentation-of-wilson-disease
#13
Christine Lo, Oliver Bandmann
Our understanding of the epidemiology of Wilson disease has steadily grown since Sternlieb and Scheinberg's first prevalence estimate of 5 per million individuals in 1968. Increasingly sophisticated genetic techniques have led to revised genetic prevalence estimates of 142 per million. Various population isolates exist where the prevalence of Wilson disease is higher still, the highest being 885 per million from within the mountainous region of Rucar in Romania. In Sardinia, where the prevalence of Wilson disease has been calculated at 370 per million births, six mutations account for around 85% of Wilson disease chromosomes identified...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28433110/animal-models-of-wilson-disease
#14
Valentina Medici, Dominik Huster
Wilson disease (WD) is caused by ATPase copper-transporting beta (ATP7B) mutations and results in copper toxicity in liver and brain. Although the defective gene was identified in 1993, the specific mechanisms underlying copper toxicity and the remarkable phenotypic diversity of the disease are still poorly understood. Animal models harboring defects in the ATP7B homolog have helped to reveal new insights into pathomechanisms of WD. Four rodent models with ATP7B gene defects have been described - the Long-Evans Cinnamon (LEC) rat, inbred mouse models (toxic milk (tx), the Jackson Laboratory toxic milk (tx-j)), and the genetically engineered ATP7B(-/-) (knockout) mouse - all of which develop liver disease to different extents...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28433109/pathogenesis-of-wilson-disease
#15
Ivo Florin Scheiber, Radan Brůha, Petr Dušek
Wilson disease is an autosomal-recessive disorder originating from a genetic defect in the copper-transporting ATPase ATP7B that is required for biliary copper secretion and loading of ceruloplasmin with copper. Impaired ATP7B function in Wilson disease results in excessive accumulation of copper in liver, brain, and other tissues. Toxic copper deposits may induce oxidative stress, modify expression of genes, directly inhibit proteins, and impair mitochondrial function, leading to hepatic, neuropsychiatric, renal, musculoskeletal, and other symptoms...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28433108/genetic-and-environmental-modifiers-of-wilson-disease
#16
Valentina Medici, Karl-Heinz Weiss
Wilson disease (WD) is characterized by remarkable variety in its phenotypic presentation. Patients with WD can present with hepatic, neurologic, and psychiatric symptoms combined in different and unpredictable ways. Importantly, no convincing phenotype-genotype correlation has ever been identified, opening the possibility that other genes, aside from ATPase copper-transporting beta (ATP7B), are involved in the pathogenesis of this condition. In addition, modifier genes, or genes that can affect the expression of other genes, may be involved...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28433102/the-genetics-of-wilson-disease
#17
Irene J Chang, Si Houn Hahn
Wilson disease (WD) is an autosomal-recessive disorder of hepatocellular copper deposition caused by pathogenic variants in the copper-transporting gene, ATP7B. Early detection and treatment are critical to prevent lifelong neuropsychiatric, hepatic, and systemic disabilities. Due to the marked heterogeneity in age of onset and clinical presentation, the diagnosis of Wilson disease remains challenging to physicians today. Direct sequencing of the ATP7B gene is the most sensitive and widely used confirmatory testing method, and concurrent biochemical testing improves diagnostic accuracy...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28433101/wilson-disease-currently-used-anticopper-therapy
#18
Anna Członkowska, Tomasz Litwin
Wilson disease (WD) is a genetic disorder of copper metabolism that can be treated successfully with pharmacologic treatment. Two groups of drugs are currently used: chelators (e.g., d-penicillamine and trientine), which increase urinary copper excretion, and zinc salts, which inhibit copper absorption in the digestive tract. The mechanisms of action lead to a negative copper balance, stopping pathologic accumulation of copper in the tissues and clearing affected organs of copper overload. Due to a lack of prospective clinical trials, the use of drugs depends mainly on center experience and the accessibility in different countries or regions...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28433100/diagnosis-of-wilson-disease
#19
Peter Ferenci
Clinical presentation of Wilson disease can vary widely; therefore diagnosis is not always straightforward. Wilson disease is not just a disease of children and young adults, but may present at any age. The key features of Wilson disease are liver disease and cirrhosis, neuropsychiatric disturbances, Kayser-Fleischer rings, and acute episodes of hemolysis, often in association with acute liver failure. Diagnosis is particularly difficult in children and in adults presenting with active liver disease. None of the available laboratory tests is perfect and may not be specific for Wilson disease...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28432816/rhodnius-prolixus-from-classical-physiology-to-modern-developmental-biology
#20
REVIEW
Rodrigo Nunes-da-Fonseca, Mateus Berni, Vitória Tobias-Dos-Santos, Attilio Pane, Helena Marcolla Araujo
The hemiptera Rhodnius prolixus is a blood-feeding insect and a primary vector of Trypanosoma cruzi, the etiological agent of the Chagas disease. Over the past century, Rhodnius has been the subject of intense investigations, which have contributed to unveil important aspects of metabolism and physiology in insects. Recent technological innovations are helping dissect the genetic and molecular underpinnings of Rhodnius embryogenesis and organogenesis, thus fostering the use of this important species in the fields of developmental and evolutionary biology...
April 22, 2017: Genesis: the Journal of Genetics and Development
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