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https://www.readbyqxmd.com/read/29471564/genetic-and-epigenetic-heterogeneity-in-normal-liver-homeostasis-and-its-implications-for-liver-disease-and-hepatocellular-cancer
#1
Ryan A Hlady, Keith D Robertson
Hepatocellular carcinoma (HCC) is the most prevalent primary tumor of the liver, and is steadily becoming one of the most lethal cancers worldwide. Liver resection, which is the recommended procedure for early localized HCC, results in frequent recurrence (50-70%), while the standard of care for late-stage HCC, multikinase inhibitors, only improves survival by a few months. The lack of success for these treatment modalities is attributable, at least in part, to marked phenotypic heterogeneity within the tumor...
February 2018: Seminars in Liver Disease
https://www.readbyqxmd.com/read/29471561/nonalcoholic-fatty-liver-disease-in-children
#2
Jake P Mann, Luca Valenti, Eleonora Scorletti, Christopher D Byrne, Valerio Nobili
Nonalcoholic steatohepatitis, a progressive form of nonalcoholic fatty liver disease (NAFLD), is one of the most common hepatic diseases in children who present with particular risk factors including obesity, sedentary lifestyle, and/or a predisposing genetic background. The worldwide prevalence of NAFLD in children is a worrying phenomenon because this disease is closely associated with the development of both cirrhosis and cardiometabolic syndrome in adulthood. To date, the etiopathogenesis of primary NAFLD in children is unknown...
February 2018: Seminars in Liver Disease
https://www.readbyqxmd.com/read/29471550/phenotype-genotype-correlation-in-children-with-neurofibromatosis-type-1
#3
Christophe Barrea, Sandrine Vaessen, Saskia Bulk, Julie Harvengt, Jean-Paul Misson
Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder with an incidence of ∼1 in 4,000 live births. Neurofibromin, the gene product, is ubiquitously expressed at high levels in the nervous system and functions as a tumor suppressor. Haploinsufficiency of neurofibromin through mutation leads to an increased risk of developing benign and malignant tumors in affected individuals. Although NF1 has complete penetrance, it displays considerable inter- and intrafamilial variability in phenotypic expression which poses disease prediction and management problems...
February 22, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29471426/isolation-characterization-and-antibiotic-sensitivity-assessment-of-gallibacterium-anatis-biovar-haemolytica-from-diseased-egyptian-chicken-flocks-during-the-years-2013-and-2015
#4
Ahmed R Elbestawy, Hany F Ellakany, Hatem S Abd El-Hamid, Ahmed A Bekheet, Nahla E Mataried, Sherif M Nasr, Nadim M Amarin
Gallibacterium anatis biovar haemolytica constitutes a part of the normal microflora in the upper respiratory and genital tracts of healthy chickens, but it is also associated with different pathological conditions. In the current study, 102 commercial chicken flocks suffering from respiratory disease and/or drop in egg production were investigated for the presence of G. anatis during 2013 and 2015. These flocks comprised 8 breeder, 32 layer, and 62 broiler flocks. By culture method, 20 flocks were found positive: one isolate derived from broiler breeders, 6 isolates from layers, and 13 isolates from broilers...
February 16, 2018: Poultry Science
https://www.readbyqxmd.com/read/29471399/from-genome-wide-association-studies-to-mendelian-randomization-novel-opportunities-for-understanding-cardiovascular-disease-causality-pathogenesis-prevention-and-treatment
#5
Marianne Benn, Børge G Nordestgaard
The Mendelian randomization approach is an epidemiologic study design incorporating genetic information into traditional epidemiologic studies to infer causality of biomarkers, risk factors, or lifestyle factors on disease risk. Mendelian randomization studies often draw on novel information generated in genome-wide association studies on causal associations between genetic variants and a risk factor or lifestyle factor. Such information can then be used in a largely unconfounded study design free of reverse causation to understand if and how risk factors and lifestyle factors cause cardiovascular disease...
February 19, 2018: Cardiovascular Research
https://www.readbyqxmd.com/read/29471383/genetic-analysis-of-calf-health-in-charolais-beef-cattle
#6
A Vinet, H Leclerc, F Marquis, F Phocas
The objective of this study was to investigate the factors that influence calf health and survival in Charolais cattle. Data from 2,740 calves, originating from 16 French farms and observed from birth until 30 d of age, were analyzed using models that took account of direct genetic, maternal genetic and common environmental effects. Both direct and maternal genetic parameters were estimated for birth weight (BW), calving ease (CE), neonatal vitality (NV), survival at 30 d (Surv), and umbilical infection and diarrhea at different ages (0-5 d: Umb1 and Diar1; 6-20 d: Umb2 and Diar2; and 21-30 d: Umb3 and Diar3)...
February 19, 2018: Journal of Animal Science
https://www.readbyqxmd.com/read/29471116/genetic-populations-and-virulence-factors-of-helicobacter-pylori
#7
REVIEW
Evariste Tshibangu Kabamba, Vo Phuoc Tuan, Yoshio Yamaoka
Helicobacter pylori is a bacterium that has infected more than half of the human population worldwide. This bacterium is closely associated with serious human diseases, such as gastric cancer, and identifying and understanding factors that predict bacterial virulence is a priority. In addition, this pathogen shows high genetic diversity and co-evolution with human hosts. H. pylori population genetics, therefore, has emerged as a tool to track human demographic history. As the number of genome sequences available is increasing, studies on the evolution and virulence of H...
February 19, 2018: Infection, Genetics and Evolution
https://www.readbyqxmd.com/read/29471055/brain-insulin-signalling-glucose-metabolism-and-females-reproductive-aging-a-dangerous-triad-in-alzheimer-s-disease
#8
REVIEW
A I Duarte, M S Santos, C R Oliveira, P I Moreira
Alzheimer's disease (AD) constitutes a major socioeconomic challenge due to its disabling features and the rise in prevalence (especially among (peri)menopausal women and type 2 diabetes patients). The precise etiopathogenesis of AD remains poorly understood. Importantly, its neurodegenerative perspective has been challenged towards a more "systemic" view. Amyloid-β (Aβ) and hyperphosphorylated Tau protein (P-Tau) (the main AD neuropathological features) affect and are affected by peripheral and brain insulin signalling dysfunction, leading to glucose dysmetabolism, synaptic loss and AD-related cognitive deficits...
February 19, 2018: Neuropharmacology
https://www.readbyqxmd.com/read/29471019/hsp90-co-chaperone-p23-contributes-to-dopaminergic-mitochondrial-stress-via-stabilization-of-phd2-implications-for-parkinson-s-disease
#9
Anand Rane, Subramanian Rajagopalan, Manuj Ahuja, Bobby Thomas, Shankar J Chinta, Julie K Andersen
The heat shock factor 90 (hsp90) complex has long been associated with neuropathological phenotypes linked to Parkinson's disease (PD) and its inhibition is neuroprotective in disease models. Hsp90 is conventionally believed to act by suppressing induction of hsp70. Here, we report a novel hsp70-independent mechanism by which Hsp90 may also contribute to PD-associated neuropathology. We previously reported that inhibition of the enzyme prolyl hydroxylase domain 2 (PHD2) in conjunction with increases in hypoxia-inducible factor 1 alpha (HIF1α) results in protection of vulnerable dopaminergic substantia nigra pars compacta (DAergic SNpc) neurons in in vitro and in vivo models of PD...
February 19, 2018: Neurotoxicology
https://www.readbyqxmd.com/read/29471014/epigenomic-drugs-and-the-germline-collateral-damage-in-the-home-of-heritability
#10
REVIEW
Patrick S Western
The testis and ovary provide specialised environments that nurture germ cells and facilitate their maturation, culminating in the production of mature gametes that can found the following generation. The sperm and egg not only transmit genetic information, but also epigenetic modifications that affect the development and physiology of offspring. Importantly, the epigenetic information contained in mature sperm and oocytes can be influenced by a range of environmental factors, such as diet, chemicals and drugs...
February 19, 2018: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/29471012/pediatric-fatty-liver-disease-pefld-all-is-not-nafld-pathophysiological-insights-and-approach-to-management
#11
REVIEW
Robert Hegarty, Maesha Deheragoda, Emer Fitzpatrick, Anil Dhawan
The recognition of a pattern of steatotic liver injury where histology mimicked alcoholic liver disease but alcohol consumption was denied, led to the identification of non-alcoholic fatty liver disease (NAFLD). Non-alcoholic fatty liver disease has since become the most common chronic liver disease in adults owing to the global epidemic of obesity. However, in pediatrics, the term NAFLD seems incongruous: alcohol consumption is largely not a factor and inherited metabolic disorders (IMD) can mimic or co-exist with a diagnosis of NAFLD...
February 19, 2018: Journal of Hepatology
https://www.readbyqxmd.com/read/29470968/multiple-sclerosis-mechanisms-and-immunotherapy
#12
REVIEW
Clare Baecher-Allan, Belinda J Kaskow, Howard L Weiner
Multiple sclerosis (MS) is an autoimmune disease triggered by environmental factors that act on a genetically susceptible host. It features three clinical stages: a pre-clinical stage detectable only by MRI; a relapsing-remitting (RRMS) stage characterized by episodes of neurologic dysfunction followed by resolution; and a progressive stage, which usually evolves from the relapsing stage. Advances in our understanding of the immune mechanisms that contribute to MS have led to more than ten FDA-approved immunotherapeutic drugs that target effector T cells, regulatory cells, B cells, and cell trafficking into the nervous system...
February 21, 2018: Neuron
https://www.readbyqxmd.com/read/29470945/porcine-circovirus-2-in-the-north-eastern-region-of-india-disease-prevalence-and-genetic-variation-among-the-isolates-from-areas-of-intensive-pig-rearing
#13
Priyanka Mukherjee, Amarjit Karam, Luit Barkalita, Prabodh Borah, Amit Kr Chakraborty, Samir Das, Kekungo Puro, Rajkumari Sanjukta, Sandeep Ghatak, Ingudam Shakuntala, Ram Gopal Laha, Arnab Sen, Indu Sharma
Porcine Circovirus type-2 (PCV-2) is considered as a major threat to the piggery sector in India. To ascertain the epidemiological status and infection level of PCV2, a pilot study was undertaken to find out the prevalence of PCV2 in swine population by ELISA and PCR in the interior and border areas of Meghalaya which includes the area where accessibility and medical aid is a rare phenomenon. A total of 249 serum samples were collected from October 2014 to February 2016 from three divisions of Meghalaya: Khasi, Jaintia and Garo Hills Divisions...
February 19, 2018: Acta Tropica
https://www.readbyqxmd.com/read/29470806/screening-of-over-1000-indian-patients-with-breast-and-or-ovarian-cancer-with-a-multi-gene-panel-prevalence-of-brca1-2-and-non-brca-mutations
#14
Jaya Singh, Nishita Thota, Suhasini Singh, Shila Padhi, Puja Mohan, Shivani Deshwal, Soumit Sur, Mithua Ghosh, Amit Agarwal, Ramesh Sarin, Rosina Ahmed, Sachin Almel, Basumita Chakraborti, Vinod Raina, Praveen K DadiReddy, B K Smruti, Senthil Rajappa, Chandragouda Dodagoudar, Shyam Aggarwal, Manish Singhal, Ashish Joshi, Rajeev Kumar, Ajai Kumar, Deepak K Mishra, Neeraj Arora, Aarati Karaba, Satish Sankaran, Shanmukh Katragadda, Arunabha Ghosh, Vamsi Veeramachaneni, Ramesh Hariharan, Ashraf U Mannan
PURPOSE: Breast and/or ovarian cancers are among the most common cancers in women across the world. In the Indian population, the healthcare burden of breast and/or ovarian cancers has been steadily rising, thus stressing the need for early detection, surveillance, and disease management measures. However, the burden attributable to inherited mutations is not well characterized. METHODS: We sequenced 1010 unrelated patients and families from across India with an indication of breast and/or ovarian cancers, using the TruSight Cancer panel which includes 14 genes, strongly associated with risk of hereditary breast and/or ovarian cancers...
February 22, 2018: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/29470805/adjuvant-versus-neoadjuvant-chemotherapy-in-triple-negative-breast-cancer-patients-with-brca-mutations
#15
Katherine Clifton, Angelica Gutierrez-Barrera, Junsheng Ma, Roland Bassett, Jennifer Litton, Henry Kuerer, Stacy Moulder, Constance Albarracin, Gabriel Hortobagyi, Banu Arun
PURPOSE: As triple-negative breast cancers are associated with earlier recurrences and poorer survival, optimal treatment of early-stage breast cancer is essential. Several retrospective studies in triple-negative breast cancer have reported conflicting results in overall survival in patients receiving neoadjuvant or adjuvant systemic therapy. This study aims to analyze outcomes of adjuvant versus neoadjuvant in patients with early-stage triple-negative breast cancer with and without BRCA germline mutations...
February 22, 2018: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/29470720/diagnostic-tools-for-inborn-errors-of-human-immunity-primary-immunodeficiencies-and-immune-dysregulatory-diseases
#16
REVIEW
Annely M Richardson, Ann M Moyer, Linda Hasadsri, Roshini S Abraham
PURPOSE OF REVIEW: The purpose of this review is to provide an overview of diagnostic testing in primary immunodeficiency and immune dysregulatory disorders (PIDDs), particularly focusing on flow cytometry and genetic techniques, utilizing specific examples of PIDDs. RECENT FINDINGS: Flow cytometry remains a vital tool in the diagnosis and monitoring of immunological diseases. Its utility ranges from cellular analysis and specific protein quantitation to functional assays and signaling pathway analysis...
February 22, 2018: Current Allergy and Asthma Reports
https://www.readbyqxmd.com/read/29470654/-molecular-characterization-of-penile-cancer-literature-review-of-new-prognostic-markers-and-potential-therapeutic-targets
#17
REVIEW
M May, S D Brookman-May, T H Ecke, M Burger
Squamous cell carcinoma of the penis (SCCP) is a rare cancer type in Western industrialized nations; nevertheless, it shows an aggressive course of disease in advanced tumor stages with accordantly high recurrence and progression rates. While molecular biomarkers are not established in clinical routine for the management of SCCP patients yet, the accordant unmet need is enormous, as adequate biomarkers would be meaningful for prognostic determination, planning of modality and extent of primary therapy, indication for inguinal lymph node resection, adjuvant treatment, and as potential targets for specific systemic treatment...
February 22, 2018: Der Urologe. Ausg. A
https://www.readbyqxmd.com/read/29470609/-new-aspects-in-systemic-treatment-of-atopic-dermatitis
#18
REVIEW
T Werfel, A Wollenberg, T Pumnea, A Heratizadeh
In severe cases of atopic dermatitis (AD) systemic treatment is indicated. So far, cyclosporine and systemic glucocorticosteroids represented the only systemic treatment options approved for the indications of AD in Germany; however, from clinical practice there is increasing evidence for beneficial therapeutic effects in AD by other immunosuppressive or immunomodulatory substances, such as mycophenolate, methotrexate, alitretinoin and ustekinumab. Beyond this, ongoing research activities focus on a better understanding of genetic and immunological aspects of this chronic inflammatory skin disease...
February 22, 2018: Der Hautarzt; Zeitschrift Für Dermatologie, Venerologie, und Verwandte Gebiete
https://www.readbyqxmd.com/read/29470556/no-evidence-for-association-between-apol1-kidney-disease-risk-alleles-and-human-african-trypanosomiasis-in-two-ugandan-populations
#19
Magambo Phillip Kimuda, Harry Noyes, Julius Mulindwa, John Enyaru, Vincent Pius Alibu, Issa Sidibe, Dieuodonne Mumba Ngoyi, Christiane Hertz-Fowler, Annette MacLeod, Özlem Tastan Bishop, Enock Matovu
BACKGROUND: Human African trypanosomiasis (HAT) manifests as an acute form caused by Trypanosoma brucei rhodesiense (Tbr) and a chronic form caused by Trypanosoma brucei gambiense (Tbg). Previous studies have suggested a host genetic role in infection outcomes, particularly for APOL1. We have undertaken candidate gene association studies (CGAS) in a Ugandan Tbr and a Tbg HAT endemic area, to determine whether polymorphisms in IL10, IL8, IL4, HLAG, TNFA, TNX4LB, IL6, IFNG, MIF, APOL1, HLAA, IL1B, IL4R, IL12B, IL12R, HP, HPR, and CFH have a role in HAT...
February 22, 2018: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/29470517/two-essential-thioredoxins-mediate-apicoplast-biogenesis-protein-import-and-gene-expression-in-toxoplasma-gondii
#20
Marco Biddau, Anne Bouchut, Jack Major, Tracy Saveria, Julie Tottey, Ojore Oka, Marcel van-Lith, Katherine Elizabeth Jennings, Jana Ovciarikova, Amy DeRocher, Boris Striepen, Ross Frederick Waller, Marilyn Parsons, Lilach Sheiner
Apicomplexan parasites are global killers, being the causative agents of diseases like toxoplasmosis and malaria. These parasites are known to be hypersensitive to redox imbalance, yet little is understood about the cellular roles of their various redox regulators. The apicoplast, an essential plastid organelle, is a verified apicomplexan drug target. Nuclear-encoded apicoplast proteins traffic through the ER and multiple apicoplast sub-compartments to their place of function. We propose that thioredoxins contribute to the control of protein trafficking and of protein function within these apicoplast compartments...
February 2018: PLoS Pathogens
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