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https://www.readbyqxmd.com/read/29793213/end-stage-renal-disease-models-in-the-americas-optimizing-resources-to-achieve-better-health-outcomes
#1
Ramiro E Gilardino, Eduardo González-Pier, Claudia Brabata
End-stage renal disease, the last and most severe stage of chronic kidney disease, represents a major and rising concern for countries in Latin America, driven in large part by aging populations and the near-epidemic rises in diabetes, obesity, and hypertension. This places a great clinical, economic, and social burden on the region's health systems. During the ISPOR 6th Latin America Conference held in Sao Paulo, Brazil, in September 2017, an educational forum debated on value-based decision making in the treatment of end-stage renal disease in Latin America...
May 21, 2018: Value in Health Regional Issues
https://www.readbyqxmd.com/read/29793197/association-of-low-moderate-urine-arsenic-and-qt-interval-cross-sectional-and-longitudinal-evidence-from-the-strong-heart-study
#2
Katherine A Moon, Yiyi Zhang, Eliseo Guallar, Kevin A Francesconi, Walter Goessler, Jason G Umans, Lyle G Best, Barbara V Howard, Richard B Devereux, Peter M Okin, Ana Navas-Acien
Epidemiologic studies suggest that chronic exposure to arsenic is related to cardiovascular disease (CVD), but the pathophysiological link remains uncertain. We evaluated the association of chronic low-moderate arsenic exposure and arsenic metabolism with baseline difference and annual change in ECG measures (QT interval, JT interval, PR interval, QRS duration, and QT dispersion) using linear mixed models in the Strong Heart Study main cohort (N = 1174, median age 55 years) and family study (N = 1695 diabetes-free, median age 36 years)...
May 21, 2018: Environmental Pollution
https://www.readbyqxmd.com/read/29793062/functional-mri-of-brain-physiology-in-aging-and-neurodegenerative-diseases
#3
J Jean Chen
Brain aging and associated neurodegeneration constitute a major societal challenge as well as one for the neuroimaging community. A full understanding of the physiological mechanisms underlying neurodegeneration still eludes medical researchers, fuelling the development of in vivo neuroimaging markers. Hence it is increasingly recognized that our understanding of neurodegenerative processes likely will depend upon the available information provided by imaging techniques. At the same time, the imaging techniques are often developed in response to the desire to observe certain physiological processes...
May 21, 2018: NeuroImage
https://www.readbyqxmd.com/read/29792170/liddle-s-like-syndrome-associated-with-nephrotic-syndrome-secondary-to-membranous-nephropathy-the-first-case-report
#4
Eriko Yamaguchi, Kazuhiro Yoshikawa, Izaya Nakaya, Karen Kato, Yoshikazu Miyasato, Terumasa Nakagawa, Yutaka Kakizoe, Masashi Mukoyama, Jun Soma
BACKGROUND: Liddle's syndrome is a rare monogenic form of hypertension caused by truncating or missense mutations in the C termini of the epithelial sodium channel (ENaC) β or γ subunits. Patients with this syndrome present with early onset of hypertension, hypokalemia, metabolic alkalosis, hyporeninemia and hypoaldosteronism, and a potassium-sparing diuretics (triamterene or amiloride) can drastically improves the disease condition. Although elderly patients having these characteristics were considered to have Liddle's syndrome or Liddle's-like syndrome, no previous report has indicated that Liddle's-like syndrome could be caused by nephrotic syndrome of primary glomerular disease, which is characterized by urinary excretion of > 3 g of protein/day plus edema and hypoalbuminemia, or has explained how the activity function of ENaC could be affected in the setting of high proteinuria...
May 23, 2018: BMC Nephrology
https://www.readbyqxmd.com/read/29792024/metabotropic-glutamate-receptors-in-alcohol-use-disorder-physiology-plasticity-and-promising-pharmacotherapies
#5
Max E Joffe, Samuel W Centanni, Anel A Jaramillo, Danny G Winder, P Jeffrey Conn
Developing efficacious treatments for alcohol use disorder (AUD) has proven difficult. The insidious nature of the disease necessitates a deep understanding of its underlying biology as well as innovative approaches to ameliorate ethanol-related pathophysiology. Excessive ethanol-seeking and relapse are generated by long-term changes to membrane properties, synaptic physiology, and plasticity throughout the limbic system and associated brain structures. Each of these factors can be modulated by metabotropic glutamate (mGlu) receptors, a diverse set of G protein-coupled receptors highly expressed throughout the central nervous system...
May 23, 2018: ACS Chemical Neuroscience
https://www.readbyqxmd.com/read/29791943/the-growing-reality-of-the-neurological-complications-of-global-stem-cell-tourism
#6
Katie Julian, Nick Yuhasz, Ethan Hollingsworth, Jaime Imitola
"Stem cell tourism" is defined as the unethical practice of offering unproven cellular preparations to patients suffering from various medical conditions. This phenomenon is rising in the field of neurology as patients are requesting information and opportunities for treatment with stem cells for incurable conditions such as multiple sclerosis and amyotrophic lateral sclerosis, despite their clinical research and experimental designation. Here, we review the recent trends in "stem cell tourism" in both the United States and abroad, and discuss the recent reports of neurological complications from these activities...
April 2018: Seminars in Neurology
https://www.readbyqxmd.com/read/29791793/assays-for-nucleotide-competitive-reversible-and-irreversible-inhibitors-of-ras-gtpases
#7
Sadasivam Jeganathan, Matthias Philipp Müller, Ali Imtiaz, Roger S Goody
Although the Ras protein has been seen as a potential target for cancer therapy for the past 30 years, there was a tendency to consider it undruggable until recently. This has changed with the demonstration that small molecules with specifcity for (disease related mutants of) Ras can indeed be found, and some of these molecules form covalent adducts. A subgroup of these molecules can be characterized as competing with binding of the natural ligands GTP and GDP. Because of the distinct properties of Ras and related GTPases, in particular the very high nucleotide affinities and associated very low dissociation rates, assays for characterizing such molecules are not trivial...
May 23, 2018: Biochemistry
https://www.readbyqxmd.com/read/29791783/in-silico-and-wet-bench-interactomics-sheds-light-on-the-similitudes-and-differences-between-human-roco-proteins
#8
Jean-Marc Taymans, Marie-Christine Chartier-Harlin
Defining a common and specific functions for homologs of a novel protein family is not a trivial task. In their recent study, Tomkins and colleagues have addressed this challenge for the ROCO protein family by exploring interactomes of its four human members: MASL1, DAPK1, LRRK1 and LRRK2. ROCO proteins are characterized by a Ras-GTPase domain embedded in complex multidomain proteins and a functional descriptor for this protein family has been elusive despite accumulating research, particularly for LRRK2, a protein implicated in Parkinson's disease...
May 23, 2018: Proteomics
https://www.readbyqxmd.com/read/29791754/atp-triggers-a-robust-intracellular-ca-2-mediated-signalling-pathway-in-human-synovial-fibroblasts
#9
Kondo C, R B Clark, T Y Kim, Belke D, Banderali U, R T Szerencsei, A H Jalloul, P P M Schnetkamp, Spitzer Kw, Giles Wr
NEW FINDINGS: What is the central question of this study? In human articular joints, the synovial fibroblast HSF cell population has essential functions including secretion of lubricants. We address some remaining questions concerning activation-secretion coupling by characterizing the main [Ca2+ ]i signalling pathways activated by ATP. What is the main finding and its importance? In HSF ATP acts through a linked G-protein (Gq ) and phospholipase C signalling mechanisms to produce IP-3 which markedly enhances release of Ca2+ from the endoplasmic reticulum...
May 23, 2018: Experimental Physiology
https://www.readbyqxmd.com/read/29791657/estimated-costs-of-hospitalization-due-to-coronary-artery-disease-attributable-to-familial-hypercholesterolemia-in-the-brazilian-public-health-system
#10
Luciana R Bahia, Roger S Rosa, Raul D Santos, Denizar V Araujo
OBJECTIVE: Cardiovascular diseases are the leading cause of death in Brazil, imposing substantial economic burden on the health care system. Familial hypercholesterolemia (FH) is known to greatly increase the risk of premature coronary artery disease (CAD). This study aimed to estimate the economic impact of hospitalizations due to CAD attributable to FH in the Brazilian Unified Health Care System (SUS). SUBJECTS AND METHODS: Retrospective, cross-sectional study of data obtained from the Hospital Information System of the SUS (SIHSUS)...
May 17, 2018: Archives of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29791652/inflammatory-myopathy-in-the-context-of-an-unusual-overlapping-laminopathy
#11
Cristina Guillín-Amarelle, Sofía Sánchez-Iglesias, Antonio Mera, Elena Pintos, Ana Castro-Pais, Leticia Rodríguez-Cañete, Julio Pardo, Felipe F Casanueva, David Araújo-Vilar
Laminopathies are genetic disorders associated with alterations in nuclear envelope proteins, known as lamins. The LMNA gene encodes lamins A and C, and LMNA mutations have been linked to diseases involving fat (type 2 familial partial lipodystrophy [FPLD2]), muscle (type 2 Emery-Dreifuss muscular dystrophy [EDMD2], type 1B limb-girdle muscular dystrophy [LGMD1B], and dilated cardiomyopathy), nerves (type 2B1 Charcot-Marie-Tooth disease), and premature aging syndromes. Moreover, overlapping syndromes have been reported...
May 17, 2018: Archives of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29791583/what-we-know-and-do-not-know-about-women-and-kidney-diseases-questions-unanswered-and-answers-unquestioned-reflection-on-world-kidney-day-and-international-woman-s-day
#12
G B Piccoli, M Al Rukhaimi, Zhi-Hong Liu, E Zakharova, A Levin
Chronic kidney disease affects approximately 10% of the world's adult population: it is within the top 20 causes of death worldwide, and its impact on patients and their families can be devastating. World Kidney Day and International Women's Day in 2018 coincide, thus offering an opportunity to reflect on the importance of women's health and specifically women's kidney health on the community and the next generations, as well as to strive to be more curious about the unique aspects of kidney disease in women so that we may apply those learnings more broadly...
2018: Brazilian Journal of Medical and Biological Research, Revista Brasileira de Pesquisas Médicas e Biológicas
https://www.readbyqxmd.com/read/29791572/is-lipid-accumulation-product-associated-with-an-atherogenic-lipoprotein-profile-in-brazilian-subjects
#13
Flavia De Conti Cartolano, Caroline Pappiani, Maria Camila Prupper de Freitas, Antonio M Figueiredo Neto, Antônio Augusto Ferreira Carioca, Nágila Raquel Teixeira Damasceno
BACKGROUND: Lipid accumulation product (LAP), a simple and low-cost tool, is a novel biomarker of central lipid accumulation and represents a potential surrogate marker for atherogenic lipoprotein profile. However, its association with lipoprotein subfractions has not been described in the literature. OBJECTIVE: To determine whether LAP index could be used as a marker of low- and high-density lipoprotein (LDL and HDL) size in Brazilian individuals. METHODS: This cross-sectional study included patients (n = 351) of both sexes and age between 30-74 years...
April 2018: Arquivos Brasileiros de Cardiologia
https://www.readbyqxmd.com/read/29791487/patients-experiences-of-coping-with-idiopathic-pulmonary-fibrosis-and-their-recommendations-for-its-clinical-management
#14
Sameera Senanayake, Kim Harrison, Michael Lewis, Melitta McNarry, Joanne Hudson
BACKGROUND: Idiopathic Pulmonary Fibrosis (IPF) is a chronic, progressive and life-limiting condition. From a healthcare perspective it is vital to establish effective methods of improving the quality of remaining life in these patients. This requires a detailed understanding of the multiple impacts of an IPF diagnosis on the individual. METHODS: We sought to understand how patients coped with their initial diagnosis, how they live with the disease day-to-day, and their experiences and opinions of the professional support they receive...
2018: PloS One
https://www.readbyqxmd.com/read/29791438/identity-by-descent-analyses-for-measuring-population-dynamics-and-selection-in-recombining-pathogens
#15
Lyndal Henden, Stuart Lee, Ivo Mueller, Alyssa Barry, Melanie Bahlo
Identification of genomic regions that are identical by descent (IBD) has proven useful for human genetic studies where analyses have led to the discovery of familial relatedness and fine-mapping of disease critical regions. Unfortunately however, IBD analyses have been underutilized in analysis of other organisms, including human pathogens. This is in part due to the lack of statistical methodologies for non-diploid genomes in addition to the added complexity of multiclonal infections. As such, we have developed an IBD methodology, called isoRelate, for analysis of haploid recombining microorganisms in the presence of multiclonal infections...
May 23, 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29791184/expert-exchange-workgroup-on-children-aged-5-and-younger-with-severe-obesity-a-narrative-review-of-medical-and-genetic-risk-factors
#16
Nazrat Mirza, Thao-Ly Phan, June Tester, Angela Fals, Cristina Fernandez, George Datto, Elizabeth Estrada, Ihuoma Eneli
Severe obesity defined as an age- and gender-specific body mass index ≥120% of the 95th percentile in children younger than 5 years is well recognized as a significant challenge for prevention and treatment. This article provides an overview of the prevalence, classification of obesity severity, patterns of weight gain trajectory, medical and genetic risk factors, and comorbid disorders among young children with an emphasis on severe obesity. Studies suggest rapid weight gain trajectory in infancy, maternal smoking, maternal gestational diabetes, and genetic conditions are associated with an increased risk for severe obesity in early childhood...
May 23, 2018: Childhood Obesity
https://www.readbyqxmd.com/read/29791048/long-term-course-of-inflammatory-bowel-disease-after-the-great-east-japan-earthquake
#17
Teruko Miyazawa, Hisashi Shiga, Yoshitaka Kinouchi, Seiichi Takahashi, Gen Tominaga, Hiroki Takahashi, Sho Takagi, Nobuya Obana, Tatsuya Kikuchi, Shinya Omori, Yuichirou Sato, Shuichiro Takahashi, Ken Umemura, Katsuya Endo, Yoichi Kakuta, Masaki Matsuura, Tomoya Kimura, Masatake Kuroha, Tooru Shimosegawa
BACKGROUND AND AIM: This study analyzed inflammatory bowel disease activity for two years after the Great East Japan Earthquake. METHODS: We compared the relapse rates of patients with ulcerative colitis or Crohn's disease 1 and 2 years after the earthquake with rates immediately after the earthquake. To evaluate continuous disease courses, we also performed multivariate time-to-event analyses from the time of the earthquake to the onset of additional treatments...
May 23, 2018: Journal of Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/29790923/missed-opportunities-to-prescribe-preexposure-prophylaxis-in-south-carolina-2013-2016
#18
Dawn K Smith, Man-Huei Chang, Wayne A Duffus, Stella Okoye, Sharon Weissman
Introduction: Expanding use of preexposure prophylaxis (PrEP) in ways that address current racial/ethnic disparities is an important HIV prevention goal. We investigated missed opportunities to provide PrEP during healthcare visits occurring prior to HIV infection. Methods: This retrospective cohort study linked South Carolina HIV case surveillance data to 3 statewide healthcare databases. Characteristics of patients, health care visits and providers, sexually transmitted diseases (STD), and other diagnoses, were assessed for medical encounters occurring before an initial HIV diagnosis...
May 22, 2018: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/29790874/point-of-care-whole-exome-sequencing-of-idiopathic-male-infertility
#19
Khalid A Fakhro, Haitham Elbardisi, Mohamed Arafa, Amal Robay, Juan L Rodriguez-Flores, Alya Al-Shakaki, Najeeb Syed, Jason G Mezey, Charbel Abi Khalil, Joel A Malek, Abdulla Al-Ansari, Sami Al Said, Ronald G Crystal
PurposeNonobstructive azoospermia (NOA) affects 1% of the male population; however, despite state-of-the-art clinical assessment, for most patients the cause is unknown. We capitalized on an analysis of multiplex families in the Middle East to identify highly penetrant genetic causes.MethodsWe used whole-exome sequencing (WES) in 8 consanguineous families and combined newly discovered genes with previously reported ones to create a NOA gene panel, which was used to identify additional variants in 75 unrelated idiopathic NOA subjects and 74 fertile controls...
April 12, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29790873/diversity-of-genetic-events-associated-with-mlh1-promoter-methylation-in-lynch-syndrome-families-with-heritable-constitutional-epimutation
#20
Julie Leclerc, Cathy Flament, Tonio Lovecchio, Lucie Delattre, Emilie Ait Yahya, Stéphanie Baert-Desurmont, Nelly Burnichon, Myriam Bronner, Odile Cabaret, Sophie Lejeune, Rosine Guimbaud, Gilles Morin, Jacques Mauillon, Philippe Jonveaux, Pierre Laurent-Puig, Thierry Frébourg, Nicole Porchet, Marie-Pierre Buisine
PurposeConstitutional epimutations are an alternative to genetic mutations in the etiology of genetic diseases. Some of these epimutations, termed secondary, correspond to the epigenetic effects of cis-acting genetic defects transmitted to the offspring following a Mendelian inheritance pattern. In Lynch syndrome, a few families with such apparently heritable MLH1 epimutations have been reported so far.MethodsWe designed a long-range polymerase chain reaction next-generation sequencing strategy to screen MLH1 entire gene and applied it to 4 French families with heritable epimutations and 10 additional patients with no proven transmission of their epimutations...
April 12, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
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