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https://www.readbyqxmd.com/read/29166669/frequency-of-five-disease-causing-genetic-mutations-in-a-large-mixed-breed-dog-population-2011-2012
#1
Sharon Zierath, Angela M Hughes, Neale Fretwell, Mark Dibley, Kari J Ekenstedt
BACKGROUND: A large and growing number of inherited genetic disease mutations are now known in the dog. Frequencies of these mutations are typically examined within the breed of discovery, possibly in related breeds, but nearly always in purebred dogs. No report to date has examined the frequencies of specific genetic disease mutations in a large population of mixed-breed dogs. Further, veterinarians and dog owners typically dismiss inherited/genetic diseases as possibilities for health problems in mixed-breed dogs, assuming hybrid vigor will guarantee that single-gene disease mutations are not a cause for concern...
2017: PloS One
https://www.readbyqxmd.com/read/29166365/cdc-grand-rounds-improving-the-lives-of-persons-with-sickle-cell-disease
#2
Mary Hulihan, Kathryn L Hassell, Jean L Raphael, Kim Smith-Whitley, Phoebe Thorpe
Approximately 100,000 Americans have sickle cell disease (SCD), a group of recessively inherited red blood cell disorders characterized by abnormal hemoglobin, called hemoglobin S or sickle hemoglobin, in the red blood cells. Persons with hemoglobin SS or hemoglobin Sß(0) thalassemia, also known as sickle cell anemia (SCA), have the most severe form of SCD. Hemoglobin SC disease and hemoglobin Sß(+) thalassemia are other common forms of SCD. Red blood cells that contain sickle hemoglobin are inflexible and can stick to vessel walls, causing a blockage that slows or stops blood flow...
November 24, 2017: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/29165759/transient-receptor-potential-melastatin-4-cation-channel-in-pediatric-heart-block
#3
J Tian, X-J An, M-Y Fu
Progressive cardiac conduction disease (PCCD) is a common pediatric heart conduction disorder. It is an autosomal inheritance of rare mutations, which leads to familial cases of PCCD. In these cases, the His-Purkinje system's conductive capacity is progressively deranged, involving either right or left bundle branch block. Also, QRS complexes display widening is an important characteristic that culminates in complete AV block, syncope, and sudden death. Mutations in TRPM4 gene that encodes for transient receptor potential melastatin 4 have recently been reported to cause familial cases of PCCD and heart block...
October 2017: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/29165738/alloantibodies-in-von-willebrand-disease
#4
Massimo Franchini, Pier Mannuccio Mannucci
von Willebrand disease (VWD), the most commonly known inherited bleeding disorder, is caused by a partial (type 1) or total (type 3) deficiency or dysfunction (type 2) of von Willebrand factor (VWF). Its management encompasses the prevention or treatment of bleeding by raising endogenous VWF levels using a synthetic agent, such as desmopressin, or providing exogenous VWF concentrates. The development of inhibitory alloantibodies against VWF is a rare but often severe complication encountered during the treatment of type 3 VWD, which is associated with a lack of hemostatic response to infused VWF concentrates and more rarely with allergic, even anaphylactic, reactions...
November 17, 2017: Seminars in Thrombosis and Hemostasis
https://www.readbyqxmd.com/read/29164982/spinocerebellar-ataxia-type-3-presenting-with-writer-s-cramp-without-ataxia
#5
A Méndez-Guerrero, D Uriarte-Pérez de Urabayen, S Llamas-Velasco
Spinocerebellar ataxia type 3 is the most common cause of autosomal dominant inherited ataxia worldwide. Clinically, it exhibits wide phenotypic variability. Presentation as isolated dystonia is exceptional. Here, the case of a woman with writer´s cramp without ataxia is presented as a paucisymptomatic manifestation of this disease. This association has not been described to date and extends the clinical variability of the disease.
November 22, 2017: International Journal of Neuroscience
https://www.readbyqxmd.com/read/29163366/clinical-genetic-and-protein-structural-aspects-of-familial-dysalbuminemic-hyperthyroxinemia-and-hypertriiodothyroninemia
#6
REVIEW
Ulrich Kragh-Hansen, Monica Galliano, Lorenzo Minchiotti
Familial dysalbuminemic hyperthyroxinemia (FDH-T4) and hypertriiodothyroninemia (FDH-T3) are dominantly inherited syndromes characterized by a high concentration of thyroid hormone in the blood stream. The syndromes do not cause disease, because the concentration of free hormone is normal, but affected individuals are at risk of erroneous treatment. FDH-T4 is the most common cause of euthyroid hyperthyroxinemia in Caucasian populations in which its prevalence is about 1 in 10,000 individuals, but the prevalence can be much higher in some ethnic groups...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/29163336/two-novel-mutations-associated-with-ataxia-telangiectasia-identified-using-an-ion-ampliseq-inherited-disease-panel
#7
Maria V Kuznetsova, Dmitry Yu Trofimov, Ekaterina S Shubina, Taisiya O Kochetkova, Natalia A Karetnikova, Ilya Yu Barkov, Vladimir A Bakharev, Oleg A Gusev, Gennady T Sukhikh
Ataxia-telangiectasia (A-T), or Louis-Bar syndrome, is a rare neurodegenerative disorder associated with immunodeficiency. For families with at least one affected child, timely A-T genotyping during any subsequent pregnancy allows the parents to make an informed decision about whether to continue to term when the fetus is affected. Mutations in the ATM gene, which is 150 kb long, give rise to A-T; more than 600 pathogenic variants in ATM have been characterized since 1990 and new mutations continue to be discovered annually...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/29163333/mutation-analysis-of-consanguineous-moroccan-patients-with-parkinson-s-disease-combining-microarray-and-gene-panel
#8
Ahmed Bouhouche, Christelle Tesson, Wafaa Regragui, Mounia Rahmani, Valérie Drouet, Houyam Tibar, Zouhayr Souirti, Rafiqua Ben El Haj, Naima Bouslam, Mohamed Yahyaoui, Alexis Brice, Ali Benomar, Suzanne Lesage
During the last two decades, 15 different genes have been reported to be responsible for the monogenic form of Parkinson's disease (PD), representing a worldwide frequency of 5-10%. Among them, 10 genes have been associated with autosomal recessive PD, with PRKN and PINK1 being the most frequent. In a cohort of 145 unrelated Moroccan PD patients enrolled since 2013, 19 patients were born from a consanguineous marriage, of which 15 were isolated cases and 4 familial. One patient was homozygous for the common LRRK2 G2019S mutation and the 18 others who did not carry this mutation were screened for exon rearrangements in the PRKN gene using Affymetrix Cytoscan HD microarray...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/29163032/lipid-involvement-in-neurodegenerative-diseases-of-the-motor-system-insights-from-lysosomal-storage-diseases
#9
REVIEW
James C Dodge
Lysosomal storage diseases (LSDs) are a heterogeneous group of rare inherited metabolic diseases that are frequently triggered by the accumulation of lipids inside organelles of the endosomal-autophagic-lysosomal system (EALS). There is now a growing realization that disrupted lysosomal homeostasis (i.e., lysosomal cacostasis) also contributes to more common neurodegenerative disorders such as Parkinson disease (PD). Lipid deposition within the EALS may also participate in the pathogenesis of some additional neurodegenerative diseases of the motor system...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29162676/the-role-of-genetic-counseling-in-pompe-disease-after-patients-are-identified-through-newborn-screening
#10
Andrea M Atherton, Debra Day-Salvatore
An important part of the coordinated care by experienced health care teams for all Pompe disease patients, whether diagnosed through newborn screening (NBS), clinical diagnosis, or prenatal diagnosis, is genetic counseling. Genetic counseling helps families better understand medical recommendations and options presented by the patient's health care team so they can make informed decisions. In addition to providing important information about the inheritance and genetic risks, genetic counseling also provides information about Pompe disease and available treatments and resources and should be offered to families with an affected child and all adults diagnosed with Pompe disease...
July 2017: Pediatrics
https://www.readbyqxmd.com/read/29162500/the-emerging-role-of-immune-dysfunction-in-mitochondrial-diseases-as-a-paradigm-for-understanding-immunometabolism
#11
REVIEW
Senta M Kapnick, Susan E Pacheco, Peter J McGuire
Immunometabolism aims to define the role of intermediary metabolism in immune cell function, with bioenergetics and the mitochondria recently taking center stage. To date, the medical literature on mitochondria and immune function extols the virtues of mouse models in exploring this biologic intersection. While the laboratory mouse has become a standard for studying mammalian biology, this model comprises part of a comprehensive approach. Humans, with their broad array of inherited phenotypes, serve as a starting point for studying immunometabolism; specifically, patients with mitochondrial disease...
November 18, 2017: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/29162372/genetics-environment-and-asthma-associated-with-celiac-disease-in-the-extended-family-of-an-affected-child
#12
R Sigala-Robles, S V Aguayo-Patrón, A M Calderón de la Barca
INTRODUCTION: Celiac disease (CD) is an autoimmune enteropathy associated with gluten ingestion. In extended families of celiac patients that live in close proximity of one another, shared genetic and environmental factors can predispose them to CD. AIM: The aim of this study was to provide evidence about the genetic and environmental factors involved in the development of CD in the extended family of a pediatric patient. METHODS: The medical history, environmental conditions, and participant weight, height, and peripheral blood samples were evaluated...
November 18, 2017: Revista de Gastroenterología de México
https://www.readbyqxmd.com/read/29162218/renal-histology-and-mri-in-a-25-year-old-japanese-man-with-nephronophthisis-4%C3%A2
#13
Daisuke Takada, Akinari Sekine, Junko Yabuuchi, Yuta Kogure, Toshiharu Ueno, Masayuki Yamanouchi, Keiichi Sumida, Tatsuya Suwabe, Noriko Hayami, Junichi Hoshino, Kenmei Takaichi, Keiichi Kinowaki, Takeshi Fujii, Kenichi Ohashi, Takayasu Mori, Eisei Sohara, Shinichi Uchida, Yoshifumi Ubara
We investigated a 25-year-old Japanese man who had polycystic kidneys and end-stage renal failure without a positive family history. Ultrasonography revealed enlarged kidneys with increased echogenicity and multiple cystic lesions. MRI showed replacement of both kidneys by cystic lesions without definite walls. Renal biopsy demonstrated interstitial fibrosis, especially at the corticomedullary junction. The residual tubular system showed starfish-like disruption. Tubules with cystic dilation were mainly the distal loop of Henle and the distal tubules since immunohistochemical staining was positive for cytokeratin 7 (the distal loop of Henle and the distal tubule) and Tamm-Horsfall protein (the distal loop of Henle), while being negative for aquaporin 3 (the collecting duct) and CD10 (proximal tubule)...
November 22, 2017: Clinical Nephrology
https://www.readbyqxmd.com/read/29162161/international-szent-gy%C3%A3-rgyi-prize-for-progress-in-cancer-research-basic-and-translational-research-recognition-mary-claire-king-received-the-2016-prize-for-her-pioneering-research-that-demonstrated-the-first-evidence-of-genetic-predisposition-to-breast-cancer
#14
EDITORIAL
Hali Hartmann, Jie Zhao, Sujuan Ba
The Szent-Györgyi Prize for Progress in Cancer Research is a prestigious scientific award sponsored by the National Foundation for Cancer Research (NFCR)-a leading cancer research charitable organization in the United States that supports innovative cancer research globally with the ultimate goal to cure cancer. The coveted Szent-Györgyi Prize annually honors a scientist whose seminal discovery or body of work has resulted in, or led toward, notable contributions to cancer prevention, diagnosis, or treatment; and the discovery has had a high direct impact of saving people's lives...
November 21, 2017: Chinese Journal of Cancer
https://www.readbyqxmd.com/read/29161709/impact-of-local-and-systemic-factors-on-kidney-dysfunction-in-bardet-biedl-syndrome
#15
Miriam Zacchia, Giovanna Capolongo, Francesco Trepiccione, Vincent Marion
Bardet Biedl syndrome (BBS) is a rare inherited syndromic condition characterized by renal and extra-renal disorders. Renal defect, at either structural or functional level, is one of the cardinal clinical features, and is a major cause of morbidity. However, the pathogenic mechanism underlying its dysfunction remains largely unknown, and to date only symptomatic treatment with no specific therapy is available for these patients. Elucidating aberrant cellular and/or systemic processes that impact kidney function is therefore a prerequisite to develop targeted innovative therapeutic strategies for the BBS patients...
November 21, 2017: Kidney & Blood Pressure Research
https://www.readbyqxmd.com/read/29161289/mitochondrial-dna-sequence-context-in-the-penetrance-of-mitochondrial-t-rna-mutations-a-study-across-multiple-lineages-with-diagnostic-implications
#16
Rachel A Queen, Jannetta S Steyn, Phillip Lord, Joanna L Elson
Mitochondrial DNA (mtDNA) mutations are well recognized as an important cause of inherited disease. Diseases caused by mtDNA mutations exhibit a high degree of clinical heterogeneity with a complex genotype-phenotype relationship, with many such mutations exhibiting incomplete penetrance. There is evidence that the spectrum of mutations causing mitochondrial disease might differ between different mitochondrial lineages (haplogroups) seen in different global populations. This would point to the importance of sequence context in the expression of mutations...
2017: PloS One
https://www.readbyqxmd.com/read/29160116/assessment-of-aav-serotype-tropism-in-human-retinal-explants
#17
Luke Aaron Wiley, Erin Burnight, Emily E Kaalberg, Chunhua Jiao, Megan J Riker, Jennifer A Halder, Meagan A Luse, Ian C Han, Stephen R Russell, Elliott H Sohn, Edwin Stone, Budd A Tucker, Robert F Mullins
Advances in the discovery of the causes of monogenic retinal disorders, combined with technologies for the delivery of DNA to the retina, offer enormous opportunities for the treatment of previously untreatable blinding diseases. However, for gene augmentation to be most effective, vectors that have the correct cell-type specificity are needed. While animal models are very useful, they often exhibit differences in retinal cell surface receptors compared to human retina. In this study, we evaluated the use of an ex vivo organotypic explant system to test the transduction efficiency and tropism of 7 different adeno-associated viral type 2 (AAV2) serotypes in human retina and retinal pigment epithelium-choroid: AAV2/1, AAV2/2, AAV2/4, AAV2/5, AAV2/6, AAV2/8, and AAV2/9, all driving expression of GFP under control of the cytomegalovirus promoter...
November 21, 2017: Human Gene Therapy
https://www.readbyqxmd.com/read/29160004/urological-dysfunction-in-young-women-an-inheritance-of-childhood
#18
Elisabetta Costantini, Ester Illiano, Konstantinos Giannitsas, Marco Prestipino, Antonio Luigi Pastore, Antonio Carbone, Giovanni Palleschi, Raffaele Balsamo, Franca Natale, Donata Villari, Vittorio Bini, Serena Maruccia, Maria-Teresa Filocamo, Alessandro Zucchi
OBJECTIVE: To investigate the correlation of a history of lower urinary tract symptomatology during childhood to lower urinary tract dysfunction in young adult women. SUBJECTS/PATIENTS AND METHODS: This was a multicenter, prospective, case-control study conducted from April 2013 to November 2015. The trial was registered in ClinicalTrials. gov (NCT02185287). Three-hundred women, 18 to 40 years old, participated. Cases were women attending urogynecology clinics for various lower urinary tract complaints and controls were recruited from a healthy population...
November 21, 2017: BJU International
https://www.readbyqxmd.com/read/29159928/the-immunogenetics-of-neurological-disease
#19
REVIEW
Maneesh K Misra, Vincent Damotte, Jill A Hollenbach
Genes encoding antigen-presenting molecules within the human major histocompatibility complex (MHC) account for the highest component of genetic risk for many neurological diseases, such as multiple sclerosis, neuromyelitis optica, Parkinson's disease, Alzheimer's disease, schizophrenia, myasthenia gravis and amyotrophic lateral sclerosis. Myriad genetic, immunological and environmental factors may contribute to an individual's susceptibility to neurological disease. Here, we review and discuss the decades long research on the influence of genetic variation at the MHC locus and the role of immunogenetic killer cell immunoglobulin-like receptor (KIR) loci in neurological diseases, including multiple sclerosis, neuromyelitis optica, Parkinson's disease, Alzheimer's disease, schizophrenia, myasthenia gravis and amyotrophic lateral sclerosis...
November 21, 2017: Immunology
https://www.readbyqxmd.com/read/29159826/pharmacological-and-molecular-approaches-for-the-treatment-of-%C3%AE-hemoglobin-disorders
#20
REVIEW
Neelam Lohani, Nupur Bhargava, Anjana Munshi, Sivaprakash Ramalingam
β-hemoglobin disorders, such as β-thalassemia and sickle cell anemia are among the most prevalent inherited genetic disorders worldwide. These disorders are caused by mutations in the gene encoding hemoglobin-β (HBB), a vital protein found in red blood cells (RBCs) that carries oxygen from lungs to all parts of the human body. As a consequence, there has been an enduring interest in this field in formulating therapeutic strategies for the treatment of these diseases. Currently, there is no cure available for hemoglobin disorders, although, some patients have been treated with bone marrow transplantation, whose scope is limited because of the difficulty in finding a histocompatible donor and also due to transplant-associated clinical complications that can arise during the treatment...
November 20, 2017: Journal of Cellular Physiology
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