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https://www.readbyqxmd.com/read/28454282/gastrointestinal-tract-cancers-genetics-heritability-and-germ-line-mutations
#1
Xiao-Peng Lv
Gastrointestinal (GI) tract cancers that arise due to genetic mutations affect a large number of individuals worldwide. Even though many of the GI tract cancers arise sporadically, few of these GI tract cancers harboring a hereditary predisposition are now recognized and well characterized. These include Cowden syndrome, MUTYH-associated polyposis, hereditary pancreatic cancer, Lynch syndrome, Peutz-Jeghers syndrome, familial adenomatous polyposis (FAP), attenuated FAP, serrated polyposis syndrome, and hereditary gastric cancer...
March 2017: Oncology Letters
https://www.readbyqxmd.com/read/28454201/-identical-variants-different-disease-course-genetics-of-chronic%C3%A2-pancreatitis
#2
Sebastian Beer, Joachim Mössner
Multiple genetic associations with chronic pancreatitis have been identified. In cases with hereditary pancreatitis family history is reported and mostly distinct causative variants in cationic trypsinogen (PRSS1) are identified. Furthermore, variants in other genes of proteases and anti-proteases of the digestive enzyme cascade (SPINK1, CTRC, CPA1), are also associated with chronic pancreatitis. Interestingly, penetrance of associated variants as well as the disease course are variable. As such environmental factors like smoking may play an important role...
May 2017: Deutsche Medizinische Wochenschrift
https://www.readbyqxmd.com/read/28454198/-no-magic-bullet-genetic-diagnostics-and-predictive-testing
#3
Heiko Witt
The enormous increase in knowledge about the genetic basis of human diseases, combined with the rapid development of genetic techniques, has led to the possible use of genetic tests in medical diagnostics to a degree previously unknown. In addition, predictive genetic diagnostics has the aim of identifying hereditary disease risks in healthy individuals in order to take precautionary measures. However, the assessment of genetic findings is still subject to numerous problems. In particular, in the case of disease prediction, only probability statements can be made since endogenous and exogenous factors influence the penetrance and expressivity of genetically determined diseases...
May 2017: Deutsche Medizinische Wochenschrift
https://www.readbyqxmd.com/read/28454196/-diagnostic-procedures-in-hereditary-diseases
#4
Joachim Mössner
No abstract text is available yet for this article.
May 2017: Deutsche Medizinische Wochenschrift
https://www.readbyqxmd.com/read/28453785/structural-and-functional-characterization-of-the-pnkp-xrcc4-ligiv-dna-repair-complex
#5
R Daniel Aceytuno, Cortt G Piett, Zahra Havali-Shahriari, Ross A Edwards, Martial Rey, Ruiqiong Ye, Fatima Javed, Shujuan Fang, Rajam Mani, Michael Weinfeld, Michal Hammel, John A Tainer, David C Schriemer, Susan P Lees-Miller, J N Mark Glover
Non-homologous end joining (NHEJ) repairs DNA double strand breaks in non-cycling eukaryotic cells. NHEJ relies on polynucleotide kinase/phosphatase (PNKP), which generates 5΄-phosphate/3΄-hydroxyl DNA termini that are critical for ligation by the NHEJ DNA ligase, LigIV. PNKP and LigIV require the NHEJ scaffolding protein, XRCC4. The PNKP FHA domain binds to the CK2-phosphorylated XRCC4 C-terminal tail, while LigIV uses its tandem BRCT repeats to bind the XRCC4 coiled-coil. Yet, the assembled PNKP-XRCC4-LigIV complex remains uncharacterized...
April 27, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28453574/social-defeat-stress-causes-depression-like-behavior-with-metabolite-changes-in-the-prefrontal-cortex-of-rats
#6
Yi-Yun Liu, Xin-Yu Zhou, Li-Ning Yang, Hai-Yang Wang, Yu-Qing Zhang, Jun-Cai Pu, Lan-Xiang Liu, Si-Wen Gui, Li Zeng, Jian-Jun Chen, Chan-Juan Zhou, Peng Xie
Major depressive disorder is a serious mental disorder with high morbidity and mortality. The role of social stress in the development of depression remains unclear. Here, we used the social defeat stress paradigm to induce depression-like behavior in rats, then evaluated the behavior of the rats and measured metabolic changes in the prefrontal cortex using gas chromatography-mass spectrometry. Within the first week after the social defeat procedure, the sucrose preference test (SPT), open field test (OFT), elevated plus maze (EPM) and forced swim test (FST) were conducted to examine the depressive-like and anxiety-like behaviors...
2017: PloS One
https://www.readbyqxmd.com/read/28453507/genetic-cancer-risk-assessment-for-breast-cancer-in-latin-america
#7
Yanin Chavarri-Guerra, Kathleen Reilly Blazer, Jeffrey Nelson Weitzel
In Latin America, breast cancer is the most common malignancy in women, and limited available data suggest that up to 15% of all breast cancer cases in the region are hereditary. Genetic cancer risk assessment and counseling is a critical component of the appropriate clinical care of patients with hereditary breast cancer and their families. Unfortunately, genetic services are underdeveloped across Latin America, and access to genetic testing and counseling is very scarce in the region. Barriers contributing to the access to genetic care are high cost and lack of insurance coverage for genetic tests, insufficient oncogenetics training or expertise, nonexistence of genetic counseling as a clinical discipline, and lack of supportive healthcare policies...
March 2017: Revista de Investigación Clínica; Organo del Hospital de Enfermedades de la Nutrición
https://www.readbyqxmd.com/read/28453344/pediatric-hereditary-angioedema-as-a-cause-of-acute-compartment-syndrome-of-the-hand-and-forearm-a-case-report
#8
Chelsea Venditto, Zachary Jager, John LoGiudice, Hani Matloub
BACKGROUND: Compartment syndrome of the upper extremity is a surgical emergency that, when left untreated, can have dire consequences. Its causes are numerous, one of which is the uncommon entity hereditary angioedema, an autosomal dominant disease resulting in edema in a variety of potential locations, including the extremities. This is only the second time hereditary angioedema has been mentioned in the literature as a cause of compartment syndrome. METHODS: We present a case of hereditary angioedema leading to hand and forearm compartment syndrome in a 13-year-old pediatric patient...
May 2017: Hand: Official Journal of the American Association for Hand Surgery
https://www.readbyqxmd.com/read/28447765/plasma-microrna-451-as-a-novel-hemolytic-marker-for-%C3%AE-0-thalassemia-hbe-disease
#9
Kamonlak Leecharoenkiat, Yuka Tanaka, Yasuko Harada, Porntip Chaichompoo, Orawan Sarakul, Yasunobu Abe, Duncan Richard Smith, Suthat Fucharoen, Saovaros Svasti, Tsukuru Umemura
In Southeast Asia, particularly in Thailand, β0-thalassemia/hemoglobin E (HbE) disease is a common hereditary hematological disease. It is associated with pathophysiological processes, such as the intramedullary destruction of immature erythroid cells and peripheral hemolysis of mature red blood cells. MicroRNA (miR) sequences, which are short non-coding RNA that regulate gene expression in a suppressive manner, serve a crucial role in human erythropoiesis. In the present study, the plasma levels of the erythroid-expressed miRNAs, miR‑451 and miR‑155, were analyzed in 23 patients with β0-thalassemia/HbE and 16 control subjects...
March 15, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28447499/is-pre-implantation-genetic-diagnosis-pgd-more-of-a-strain-regarding-satisfaction-with-marital-quality-for-male-or-female-partners-a-three-year-follow-up-study
#10
Stina Järvholm, Ann Thurin-Kjellberg, Malin Broberg
INTRODUCTION: Men and women with a hereditary genetic disease are faced with different options when they plan to become parents. One is pre-implantation genetic diagnosis (PGD) which is a combination of in vitro fertilization (IVF) and genetic analysis of the embryo before implantation. The present study focuses on how men and women planning for PGD experience the quality of marital satisfaction when they apply for treatment and again, three years later. METHODS: The study was a prospective cohort study where all couples (n = 22) applying for PGD during 2010 and 2011 were eligible...
April 27, 2017: Journal of Psychosomatic Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28447420/red-cell-membrane-disorders
#11
REVIEW
J Narla, N Mohandas
Significant advances have been made in our understanding of the structural basis for altered cell function in various inherited red cell membrane disorders with reduced red cell survival and resulting hemolytic anemia. The current review summarizes these advances as they relate to defining the molecular and structural basis for disorders involving altered membrane structural organization (hereditary spherocytosis [HS] and hereditary elliptocytosis [HE]) and altered membrane transport function (hereditary overhydrated stomatocytosis and hereditary xerocytosis)...
May 2017: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/28447412/optimal-utilization-of-thrombophilia-testing
#12
REVIEW
R K Pruthi
The global incidence of venous thromboembolism is high so laboratory testing for hereditary thrombophilia and selected acquired thrombophilia is common. Given the costs associated with testing and multiple pre-analytic and analytic variables affecting the assays, careful patient selection and timing of testing and diligent application to patient management are critical to providing high-value clinical care. Collaboration between the ordering providers and performing laboratories has the potential to achieve these goals...
May 2017: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/28447284/apical-sparing-pattern-of-left-ventricular-myocardial-99m-tc-hmdp-uptake-in-patients-with-transthyretin-cardiac-amyloidosis
#13
Axel Van Der Gucht, Anne-Ségolène Cottereau, Mukedaisi Abulizi, Aziz Guellich, Paul Blanc-Durand, Jean-Marc Israel, Arnault Galat, Violaine Plante-Bordeneuve, Jean-Luc Dubois-Randé, Diane Bodez, Jean Rosso, Thibaud Damy, Emmanuel Itti
BACKGROUND: A decreased longitudinal strain in basal segments with a base-to-apex gradient has been described in patients with cardiac amyloidosis (CA). OBJECTIVES: Aim was to investigate the left ventricular (LV) regional distribution of early-phase (99m)Tc-Hydroxymethylene diphosphonate ((99m)Tc-HMDP) uptake in patients with transthyretin-related cardiac amyloidosis (TTR-CA). METHODS: All patients underwent a whole-body planar (99m)Tc-HMDP scintigraphy acquired at 10-min post-injection (early-phase) followed by a thorax SPECT/CT...
April 26, 2017: Journal of Nuclear Cardiology: Official Publication of the American Society of Nuclear Cardiology
https://www.readbyqxmd.com/read/28445472/unsuspected-osteochondroma-like-outgrowths-in-the-cranial-base-of-hereditary-multiple-exostoses-patients-and-modeling-and-treatment-with-a-bmp-antagonist-in-mice
#14
Sayantani Sinha, Christina Mundy, Till Bechtold, Federica Sgariglia, Mazen M Ibrahim, Paul C Billings, Kristen Carroll, Eiki Koyama, Kevin B Jones, Maurizio Pacifici
Hereditary Multiple Exostoses (HME) is a rare pediatric disorder caused by loss-of-function mutations in the genes encoding the heparan sulfate (HS)-synthesizing enzymes EXT1 or EXT2. HME is characterized by formation of cartilaginous outgrowths-called osteochondromas- next to the growth plates of many axial and appendicular skeletal elements. Surprisingly, it is not known whether such tumors also form in endochondral elements of the craniofacial skeleton. Here, we carried out a retrospective analysis of cervical spine MRI and CT scans from 50 consecutive HME patients that included cranial skeletal images...
April 26, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28444876/cataracts-in-a-population-of-bengal-cats-in-france
#15
Aurélie Bourguet, Gilles Chaudieu, Alice Briatta, Alexandre Guyonnet, Marie Abitbol, Sabine Chahory
OBJECTIVE: To document the clinical appearance and prevalence of cataracts in a French population of Bengal cats. METHODS: Two distinct populations of Bengal cats were examined as follows: (i) 51 animals recruited for evaluation of national prevalence of ocular diseases in an observational study conducted between October 2014 and November 2016 at the Alfort ophthalmology unit; (ii) 12 patients referred for cataract diagnosis examined at a veterinary eye clinic located in central France, between December 2014 and February 2016...
April 25, 2017: Veterinary Ophthalmology
https://www.readbyqxmd.com/read/28444533/breast-cancer-risk-models-a-comprehensive-overview-of-existing-models-validation-and-clinical-applications
#16
REVIEW
Jessica A Cintolo-Gonzalez, Danielle Braun, Amanda L Blackford, Emanuele Mazzola, Ahmet Acar, Jennifer K Plichta, Molly Griffin, Kevin S Hughes
Numerous models have been developed to quantify the combined effect of various risk factors to predict either risk of developing breast cancer, risk of carrying a high-risk germline genetic mutation, specifically in the BRCA1 and BRCA2 genes, or the risk of both. These breast cancer risk models can be separated into those that utilize mainly hormonal and environmental factors and those that focus more on hereditary risk. Given the wide range of models from which to choose, understanding what each model predicts, the populations for which each is best suited to provide risk estimations, the current validation and comparative studies that have been performed for each model, and how to apply them practically is important for clinicians and researchers seeking to utilize risk models in their practice...
April 25, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/28444445/acquired-cystic-kidney-disease-an-under-recognized-condition-in-children-with-end-stage-renal-disease
#17
Eugene Y H Chan, Bradley A Warady
Acquired cystic kidney disease (ACKD) is a condition that occurs predominantly in patients with end-stage renal disease (ESRD). In contrast to hereditary cystic kidney disease, ACKD is characterized by the presence of multiple small cysts in bilaterally small kidneys. Limited pediatric data suggest a high incidence (21.6-45.8%) of ACKD in children on dialysis, comparable to that in adults, with an increased frequency associated with a longer duration of dialysis. Recent research has shed light on the pathogenesis of ACKD, such as activation of proto-oncogenes...
April 25, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28444329/the-eye-drop-preservative-benzalkonium-chloride-potently-induces-mitochondrial-dysfunction-and-preferentially-affects-lhon-mutant-cells
#18
Sandipan Datta, Christophe Baudouin, Francoise Brignole-Baudouin, Alexandre Denoyer, Gino A Cortopassi
Purpose: Benzalkonium chloride (BAK) is the most commonly used eye drop preservative. Benzalkonium chloride has been associated with toxic effects such as "dry eye" and trabecular meshwork degeneration, but the underlying biochemical mechanism of ocular toxicity by BAK is unclear. In this study, we propose a mechanistic basis for BAK's adverse effects. Method: Mitochondrial O2 consumption rates of human corneal epithelial primary cells (HCEP), osteosarcoma cybrid cells carrying healthy (control) or Leber hereditary optic neuropathy (LHON) mutant mtDNA [11778(G>A)], were measured before and after acute treatment with BAK...
April 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28443246/genetic-and-dietary-iron-overload-differentially-affect-the-course-of-salmonella-typhimurium-infection
#19
Manfred Nairz, Andrea Schroll, David Haschka, Stefanie Dichtl, Piotr Tymoszuk, Egon Demetz, Patrizia Moser, Hubertus Haas, Ferric C Fang, Igor Theurl, Günter Weiss
Genetic and dietary forms of iron overload have distinctive clinical and pathophysiological features. HFE-associated hereditary hemochromatosis is characterized by overwhelming intestinal iron absorption, parenchymal iron deposition, and macrophage iron depletion. In contrast, excessive dietary iron intake results in iron deposition in macrophages. However, the functional consequences of genetic and dietary iron overload for the control of microbes are incompletely understood. Using Hfe(+/+) and Hfe(-/-) mice in combination with oral iron overload in a model of Salmonella enterica serovar Typhimurium infection, we found animals of either genotype to induce hepcidin antimicrobial peptide expression and hypoferremia following systemic infection in an Hfe-independent manner...
2017: Frontiers in Cellular and Infection Microbiology
https://www.readbyqxmd.com/read/28442163/the-search-for-the-missing-heritability-of-prostate-cancer
#20
EDITORIAL
Patrick C Walsh
Scientists and clinicians at Johns Hopkins have been working since 1987 to uncover the genetic pathogenesis of prostate cancer. A patient query about the hereditary nature of the disease led to data collection on family history, followed by segregation and linkage analyses. Collaborative investigations using next-generation sequencing to identify genetic variants associated with prostate cancer risk have revealed the significance of HOXB13, BRCA 1/2, and DNA repair mutations.
April 22, 2017: European Urology
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