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https://www.readbyqxmd.com/read/29031192/growth-and-endocrine-function-in-children-with-dravet-syndrome
#1
Krista Eschbach, Sharon Scarbro, Elizabeth Juarez-Colunga, Victoria Allen, Stephanie Hsu, Kelly Knupp
PURPOSE: Dravet syndrome is an intractable childhood epilepsy syndrome most often associated with an SCN1A mutation. In our clinical practice, several patients with Dravet syndrome were noted to have short stature and endocrine dysfunction. This has not been reported in the literature. Our study aim was to describe growth measurements and endocrine abnormalities in children with Dravet syndrome. METHOD: A retrospective chart review was performed at a single institution...
September 29, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29029331/the-clinical-utility-of-human-leucocyte-antigen-b27-in-axial-spondyloarthritis
#2
Chong Seng Edwin Lim, Raj Sengupta, Karl Gaffney
The association between HLA-B27 and AS was first established in the early 1970s. Since then, our understanding of this disease has changed, such that we now recognize AS to be the extreme of the clinical phenotype within a disease spectrum known as axial SpA (axSpA). Recent advances in therapeutic options have driven the need for earlier diagnosis and many screening strategies have been proposed to facilitate this. In parallel, our understanding of axSpA genetics, and especially the contribution of HLA-B27, has expanded...
September 25, 2017: Rheumatology
https://www.readbyqxmd.com/read/29029226/new-insights-into-the-genetic-basis-of-monge-s-disease-and-adaptation-to-high-altitude
#3
Tsering Stobdan, Ali Akbari, Priti Azad, Dan Zhou, Orit Poulsen, Otto Appenzeller, Gustavo F Gonzales, Amalio Telenti, Emily H M Wong, Shubham Saini, Ewen F Kirkness, J Craig Venter, Vineet Bafna, Gabriel G Haddad
Human high-altitude (HA) adaptation or mal-adaptation is explored to understand the physiology, pathophysiology and molecular mechanisms that underlie long-term exposure to hypoxia. Here we report the results of an analysis of the largest whole-genome-sequencing of Chronic Mountain Sickness (CMS) and non-CMS individuals, identified candidate genes and functionally validated these candidates in a genetic model system (Drosophila). We used PreCIOSS algorithm that uses Haplotype Allele Frequency score to separate haplotypes carrying the favored allele from the non-carriers and accordingly prioritize genes associated with the CMS or non-CMS phenotype...
September 19, 2017: Molecular Biology and Evolution
https://www.readbyqxmd.com/read/29029216/diversity-and-distribution-of-cryptic-species-of-the-bemisia-tabaci-hemiptera-aleyrodidae-complex-in-pakistan
#4
Mariyam Masood, Imran Amin, Ishtiaq Hassan, Shahid Mansoor, Judith K Brown, Rob W Briddon
Bemisia tabaci (Gennadius; Hempitera: Aleyrodidae) is considered to be a cryptic (sibling) species complex, the members of which exhibit morphological invariability while being genetically and behaviorally distinct. Members of the complex are agricultural pests that cause direct damage by feeding on plants, and indirectly by transmitting viruses that cause diseases leading to reduced crop yield and quality. In Pakistan, cotton leaf curl disease, caused by multiple begomovirus species, is the most economically important viral disease of cotton...
October 4, 2017: Journal of Economic Entomology
https://www.readbyqxmd.com/read/29029192/paracoccidioidomycosis-associated-with-a-heterozygous-stat4-mutation-and-impaired-ifn-%C3%AE-immunity
#5
Lena F Schimke, James Hibbard, Ruben Martinez-Barricarte, Taj Ali Khan, Ricardo de Souza Cavalcante, Edgar Borges de Oliveira Junior, Tabata Takahashi França, Asif Iqbal, Guilherme Yamamoto, Christina Arslanian, Claudia Feriotti, Tania Alves da Costa, Jacinta Bustamante, Stéphanie Boisson-Dupuis, Jean-Laurent Casanova, José Alexandre Marzagao Barbuto, Mayana Zatz, Rinaldo Poncio Mendes, Vera Lucia Garcia Calich, Hans D Ochs, Troy R Torgerson, Otávio Cabral-Marques, Antonio Condino-Neto
Background: Mutations in genes affecting interferon (IFN)-γ immunity have contributed to understand the essential role of IFN-γ in the protection against intracellular pathogens. However, inborn errors in STAT4, which controls IL-12 responses, have not yet been reported. Objective: To determine the underlying genetic defect in a family with a history of paracoccidioidomycosis (PCM) disease. Methods: Genetic analysis was performed by whole-exome sequencing and sanger sequencing...
October 5, 2017: Journal of Infectious Diseases
https://www.readbyqxmd.com/read/29029165/depicting-new-pharmacological-strategies-for-familial-hypercholesterolaemia-involving-lipoprotein-a
#6
Alpo Vuorio, Gerald F Watts, Petri T Kovanen
Approximately 35 million people worldwide suffer from heterozygous familial hypercholesterolaemia (HeFH), a condition characterized by genetically determined life-long elevation of plasma low-density lipoprotein cholesterol (LDL-C). One in three of these patients also inherit an elevated plasma concentration of lipoprotein (a) [Lp(a)], a lipoprotein particle with atherogenic, inflammatory and prothrombotic properties. Accordingly, the combination of high plasma LDL-C and Lp(a) can markedly accelerate premature atherosclerotic cardiovascular disease (ASCVD)...
October 3, 2017: European Heart Journal
https://www.readbyqxmd.com/read/29029143/genome-wide-analysis-of-genetic-risk-factors-for-rheumatic-heart-disease-in-aboriginal-australians-provides-support-for-pathogenic-molecular-mimicry
#7
Lesley-Ann Gray, Heather A D'Antoine, Steven Y C Tong, Melita McKinnon, Dawn Bessarab, Ngaire Brown, Bo Reményi, Andrew Steer, Genevieve Syn, Jenefer M Blackwell, Michael Inouye, Jonathan R Carapetis
Background: Rheumatic heart disease (RHD) following Group A Streptococcus (GAS) infections is heritable and prevalent in Indigenous populations. Molecular mimicry between human and GAS proteins triggers pro-inflammatory cardiac valve-reactive T-cells. Methods: Genome-wide genetic analysis was undertaken in 1263 Aboriginal Australians (398 RHD cases; 865 controls). Single nucleotide polymorphisms (SNPs) were genotyped using Illumina HumanCoreExome BeadChips. Direct typing and imputation was used to fine-map the human leukocyte antigen (HLA) region...
September 26, 2017: Journal of Infectious Diseases
https://www.readbyqxmd.com/read/29029133/rapid-determination-of-ebolavirus-infectivity-in-clinical-samples-using-a-novel-reporter-cell-line
#8
Markus H Kainulainen, Stuart T Nichol, César G Albariño, Christina F Spiropoulou
Modern ebolavirus diagnostics rely primarily on qRT-PCR, a sensitive method to detect viral genetic material in the acute phase of the disease. However, qRT-PCR does not confirm presence of infectious virus, presenting limitations in patient and outbreak management. Attempts to isolate infectious virus rely on in vivo or basic cell culture approaches, which prohibit rapid results and screening. Here we present a novel reporter cell line capable of detecting live ebolaviruses. These cells permit sensitive large-scale screening and titration of infectious virus in experimental and clinical samples, independent of ebolavirus species and variant...
September 23, 2017: Journal of Infectious Diseases
https://www.readbyqxmd.com/read/29029128/evolution-and-spatio-temporal-dynamics-of-enterovirus-a71-subgenogroups-in-vietnam
#9
Nguyen Thi Thanh Thao, Celeste Donato, Vu Thi Huyen Trang, Nguyen Trung Kien, Ph M Mai Thuy Trang, Tran Quoc Khanh, Dang Thi Nguyet, October Sessions, Hoang Quoc Cuong, Phan Trong Lan, Vu Thi Que Huong, H Rogier van Doorn, Vijaykrishna Dhanasekaran
Background: Enterovirus A71 (EV-A71) is the major cause of severe hand, foot and mouth disease and viral encephalitis in children across the Asia-Pacific region, including in Vietnam which has experienced a high burden of disease in recent years. Multiple subgenogroups (C1, C4, C5 and B5) concurrently circulate in the region with a large variation in epidemic severity. The relative differences in their evolution and epidemiology were examined within Vietnam and globally. Methods: A total of 752 VP1 gene sequences were analysed (413 generated in this study combined with 339 obtained from GenBank), collected from patients in 36 provinces in Vietnam during 2003-2013 along with epidemiological metadata...
September 23, 2017: Journal of Infectious Diseases
https://www.readbyqxmd.com/read/29029121/clinical-heterogeneity-and-phenotypic-expansion-of-napi-iia-associated-disease
#10
Korcan Demir, Melek Yildiz, Hilla Bahat, Michael Goldman, Nisreen Hassan, Shay Tzur, Ayala Ofir, Daniella Magen
Context: NaPi-IIa, encoded by SLC34A1 is a key phosphate transporter in the mammalian proximal tubule, and plays a cardinal role in renal phosphate handling. NaPi-IIa impairment has been linked to various overlapping clinical syndromes, including hypophosphatemic nephrolithiasis with osteoporosis, renal Fanconi's syndrome with chronic kidney disease, and most recently, with idiopathic infantile hypercalcemia and nephrocalcinosis. Objectives: We studied the molecular basis of idiopathic infantile hypercalcemia with partial proximal tubulopathy in two apparently unrelated patients of Israeli and Turkish descent...
September 29, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29029085/impairment-of-elastic-properties-of-the-aorta-in-bicuspid-aortic-valve-relationship-between-biomolecular-and-aortic-strain-patterns
#11
Luca Longobardo, Maria Ludovica Carerj, Gabriele Pizzino, Alessandra Bitto, Maurizio Cusma Piccione, Marta Zucco, Lilia Oreto, Maria Chiara Todaro, Maria Pia Calabrò, Francesco Squadrito, Gianluca Di Bella, Giuseppe Oreto, Bijoy K Khandheria, Scipione Carerj, Concetta Zito
Aims: Bicuspid aortic valve (BAV) is associated with aortic wall alterations. We aimed to detect any correlation between aortic elasticity and genetic and biomolecular patterns of elastin. Methods and results: Forty-nine BAV patients (mean age: 38 ± 17.05) were prospectively enrolled. A blood sample was drawn for analysis of a single nucleotide polymorphism of elastin gene (ELN rs2071307) responsible for misfolding of elastin, and for the amount of elastin soluble fragments (ESF) in the plasma...
September 23, 2017: European Heart Journal Cardiovascular Imaging
https://www.readbyqxmd.com/read/29029084/penicillin-binding-protein-encoded-by-pbp4-is-involved-in-mediating-copper-stress-in-listeria-monocytogenes
#12
Cameron Parsons, Ben Costolo, Phillip Brown, Sophia Kathariou
Listeria monocytogenes raises major food safety and public health concerns due its potential for severe foodborne disease and persistent colonization of food processing facilities. Copper is often employed to control pathogens in agriculture and is increasingly used in healthcare facilities, but mechanisms mediating tolerance of L. monocytogenes to copper remain poorly understood. A mariner-based mutant library of L. monocytogenes 2011L-2858, implicated in the 2011 listeriosis outbreak via whole cantaloupe, was screened for growth at sublethal levels of copper yielding mutant G2B4 with decreased copper tolerance...
October 4, 2017: FEMS Microbiology Letters
https://www.readbyqxmd.com/read/29029073/clinical-genetics-and-outcome-of-left-ventricular-non-compaction-cardiomyopathy
#13
Farbod Sedaghat-Hamedani, Jan Haas, Feng Zhu, Christian Geier, Elham Kayvanpour, Martin Liss, Alan Lai, Karen Frese, Regina Pribe-Wolferts, Ali Amr, Daniel Tian Li, Omid Shirvani Samani, Avisha Carstensen, Diana Martins Bordalo, Marion Müller, Christine Fischer, Jing Shao, Jing Wang, Ming Nie, Li Yuan, Sabine Haßfeld, Christine Schwartz, Min Zhou, Zihua Zhou, Yanwen Shu, Min Wang, Kai Huang, Qiutang Zeng, Longxian Cheng, Tobias Fehlmann, Philipp Ehlermann, Andreas Keller, Christoph Dieterich, Katrin Streckfuß-Bömeke, Yuhua Liao, Michael Gotthardt, Hugo A Katus, Benjamin Meder
Aims: In this study, we aimed to clinically and genetically characterize LVNC patients and investigate the prevalence of variants in known and novel LVNC disease genes. Introduction: Left ventricular non-compaction cardiomyopathy (LVNC) is an increasingly recognized cause of heart failure, arrhythmia, thromboembolism, and sudden cardiac death. We sought here to dissect its genetic causes, phenotypic presentation and outcome. Methods and results: In our registry with follow-up of in the median 61 months, we analysed 95 LVNC patients (68 unrelated index patients and 27 affected relatives; definite familial LVNC = 23...
October 6, 2017: European Heart Journal
https://www.readbyqxmd.com/read/29029051/multi-locus-sequence-typing-and-virulence-genotyping-of-streptococcus-suis-serotype-9-isolates-revealed-high-genetic-and-virulence-diversity
#14
Wenyang Dong, Yinchu Zhu, Ye Ma, Jiale Ma, Yue Zhang, Lvfeng Yuan, Zihao Pan, Zongfu Wu, Huochun Yao
Streptococcus suis (S. suis) is an important swine pathogen that can cause a variety of diseases. S. suis serotype 9 (SS9) is a prevalent serotype, but limited information is available. Here, we studied and compared 30 SS9 isolates, including 24 isolates from China between year 2004 and 2013, 5 isolates from Vietnam and a serotype reference isolate from Denmark. A MLST analysis was performed to exploit the genetic relationships between those isolates. The phylogenetic tree based on the MLST data divides those isolates into two clades (I and II), revealing different evolutionary paths of collected strains...
September 22, 2017: FEMS Microbiology Letters
https://www.readbyqxmd.com/read/29029019/combined-loss-of-eaf2-and-p53-induces-prostate-carcinogenesis-in-male-mice
#15
Yao Wang, Laura E Pascal, Mingming Zhong, Junkui Ai, Dan Wang, Yifeng Jing, Jan Pilch, Qiong Song, Lora H Rigatti, Lara E Graham, Joel B Nelson, Anil V Parwani, Zhou Wang
Mutations in the p53 tumor suppressor are frequent in patients with castration-resistant prostate cancer but less so in patients with localized disease, and Li-Fraumeni patients with germline p53 mutations do not have an increased incidence of prostate cancer, suggesting that additional molecular and/or genetic changes are required for p53 to promote prostate carcinogenesis. EAF2 is a tumor suppressor that is frequently down-regulated in advanced prostate cancer. Previous studies have suggested that p53 binds to EAF2, providing a potential mechanism for their functional interactions...
September 27, 2017: Endocrinology
https://www.readbyqxmd.com/read/29029005/biopsy-derived-intestinal-epithelial-cell-cultures-for-pathway-based-stratification-of-patients-with-inflammatory-bowel-disease
#16
Wiebe Vanhove, Kris Nys, Ingrid Arijs, Isabelle Cleynen, Manuel Noben, Sebastiaan De Schepper, Gert Van Assche, Marc Ferrante, Séverine Vermeire
Background: Endoplasmic reticulum stress was shown to be pivotal in the pathogenesis of inflammatory bowel disease. Despite progress in IBD drug development, not more than one third of patients achieve steroid-free remission and mucosal healing with current therapies. Furthermore, patient stratification tools for therapy selection are lacking. We aimed to identify and quantify epithelial ER stress in a patient-specific manner in an attempt towards personalized therapy. Methods: A biopsy-derived intestinal epithelial cell culture system was developed and characterized...
September 23, 2017: Journal of Crohn's & Colitis
https://www.readbyqxmd.com/read/29028924/survivor-bias-in-mendelian-randomization-analysis
#17
Stijn Vansteelandt, Oliver Dukes, Torben Martinussen
Mendelian randomization studies employ genotypes as experimental handles to infer the effect of genetically modified exposures (e.g. vitamin D exposure) on disease outcomes (e.g. mortality). The statistical analysis of these studies makes use of the standard instrumental variables framework. Many of these studies focus on elderly populations, thereby ignoring the problem of left truncation, which arises due to the selection of study participants being conditional upon surviving up to the time of study onset...
September 27, 2017: Biostatistics
https://www.readbyqxmd.com/read/29028893/canvas-spw-calling-de-novo-copy-number-variants-in-pedigrees
#18
Sergii Ivakhno, Eric Roller, Camilla Colombo, Philip Tedder, Anthony J Cox
Motivation: Whole genome sequencing is becoming a diagnostics of choice for the identification of rare inherited and de novo copy number variants in families with various pediatric and late-onset genetic diseases. However, joint variant calling in pedigrees is hampered by the complexity of consensus breakpoint alignment across samples within an arbitrary pedigree structure. Results: We have developed a new tool, Canvas SPW, for the identification of inherited and de novo copy number variants from pedigree sequencing data...
September 27, 2017: Bioinformatics
https://www.readbyqxmd.com/read/29028840/polymorphism-of-keratin-1-associates-with-systemic-lupus-erythematosus-and-systemic-sclerosis-in-a-south-chinese-population
#19
Weiguang Luo, Bin Zhou, Qizhi Luo, Huilong Fang, Xiaoxia Zuo, Yizhou Zou
Both systemic lupus erythematosus (SLE) and systemic sclerosis (SSc) diseases are related to the genetic and environmental factors, causing damage to the skin. The mutations of keratin 1 gene (KRT1) were reported to associate with skin diseases. The single-nucleotide polymorphism (SNP, rs14024) and the indel polymorphism (cds-indel, rs267607656), consisting mostly of the common haplotypes and could be used for genotyping of KRT1. We used the PCR with sequence specific primers (PCR-SSP) to determine the genotype of KRT1 in 164 SLE, 99 SSc patients, and 418 healthy controls...
2017: PloS One
https://www.readbyqxmd.com/read/29028765/preventing-clinical-progression-and-need-for-treatment-in-patients-on-active-surveillance-for-prostate-cancer
#20
Hanan Goldberg, Zachary Klaassen, Thenappan Chandrasekar, Neil Fleshner
PURPOSE OF REVIEW: Active surveillance is an established treatment option for men with localized, low-risk prostate cancer (CaP). It entails the postponement of immediate therapy with the option of delayed intervention upon disease progression. The rate of clinical progression and need for treatment on active surveillance is approximately 50% over 15 years. The present review summarizes recent data on current methods, attempting to prevent clinical progression. RECENT FINDINGS: Patient selection for active surveillance is the first mandatory step required to lower progression...
October 11, 2017: Current Opinion in Urology
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