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Hereditary Disease

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https://www.readbyqxmd.com/read/29453630/somatic-brca1-mutations-in-clinically-sporadic-breast-cancer-with-medullary-histological-features
#1
Markus Rechsteiner, Konstantin Dedes, Daniel Fink, Bernhard Pestalozzi, Bettina Sobottka, Holger Moch, Peter Wild, Zsuzsanna Varga
BACKGROUND: The role of somatic BRCA1/2 gene mutations in breast cancer is getting increasing attention in view of hereditary disease. The medullary phenotype and triple negative intrinsic subtypes are often, but not exclusively encountered in BRCA1 germline mutated breast cancer, whilst for BRCA2, no association to specific histological features are known. In this study, we addressed the relationship between morphological medullary phenotype and BRCA1/2 somatic mutations in breast cancer without known positive family anamnesis...
February 17, 2018: Journal of Cancer Research and Clinical Oncology
https://www.readbyqxmd.com/read/29453415/erlin1-mutations-cause-teenage-onset-slowly-progressive-als-in-a-large-turkish-pedigree
#2
Ceren Tunca, Fulya Akçimen, Cemre Coşkun, Aslı Gündoğdu-Eken, Cemile Kocoglu, Betül Çevik, Can Ebru Bekircan-Kurt, Ersin Tan, A Nazlı Başak
Amyotrophic lateral sclerosis (ALS) is a late-onset motor neuron disease with mostly dominant inheritance and a life expectancy of 2-5 years; however, a quite common occurrence of atypical forms of the disease, due to recessive inheritance, has become evident with the use of NGS technologies. In this paper, we describe a family with close consanguinity for at least four generations, suffering from a slowly progressive form of ALS. Spastic walking is observed since teenage years, while bulbar symptoms start much later, at the fifth or sixth decade of life...
February 16, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29449337/alk1-activin-receptor-like-kinase-1-loss-results-in-vascular-hyperplasia-in-mice-and-humans-through-pi3k-phosphatidylinositol-3-kinase-activation
#3
Elisenda Alsina-Sanchís, Yaiza García-Ibáñez, Ana M Figueiredo, Carla Riera-Domingo, Agnès Figueras, Xavier Matias-Guiu, Oriol Casanovas, Luisa M Botella, Miquel A Pujana, Antoni Riera-Mestre, Mariona Graupera, Francesc Viñals
OBJECTIVE: ALK1 (activin-receptor like kinase 1) is an endothelial cell-restricted receptor with high affinity for BMP (bone morphogenetic protein) 9 TGF-β (transforming growth factor-β) family member. Loss-of-function mutations in ALK1 cause a subtype of hereditary hemorrhagic telangiectasia-a rare disease characterized by vasculature malformations. Therapeutic strategies are aimed at reducing potential complications because of vascular malformations, but currently, there is no curative treatment for hereditary hemorrhagic telangiectasia...
February 15, 2018: Arteriosclerosis, Thrombosis, and Vascular Biology
https://www.readbyqxmd.com/read/29448286/-mitochondrial-dysfunctions-and-role-of-coenzyme-q10-in-patients-with-glaucoma
#4
Carl Erb, Katarzyna Konieczka
Mitochondrial function is closely linked to numerous aspects of eye health. Imbalance between the creation of energy and the development of reactive oxygen species (ROS) seems to be the cause of the development of mitochondrial dysfunctions. As a result of this energy deficit, the level of oxidative stress in the eye tissues increases, leading to numerous ophthalmic impairments. It is important to distinguish between primary mitochondrial eye diseases and secondary mitochondrial changes. Primary mitochondrial eye diseases, for example Leber's hereditary optic atrophy (LHON), retinitis pigmentosa and chronic progressive external ophthalmoplegia are caused by direct damage to mitochondrial function induced by defective genes, either located on mitochondrial DNA (mtDNA) or the DNA of the nucleus (nDNA)...
February 2018: Klinische Monatsblätter Für Augenheilkunde
https://www.readbyqxmd.com/read/29447396/rna-dna-hybrids-promote-the-expansion-of-friedreich-s-ataxia-gaa-n-repeats-via-break-induced-replication
#5
Alexander J Neil, Miranda U Liang, Alexandra N Khristich, Kartik A Shah, Sergei M Mirkin
Expansion of simple DNA repeats is responsible for numerous hereditary diseases in humans. The role of DNA replication, repair and transcription in the expansion process has been well documented. Here we analyzed, in a yeast experimental system, the role of RNA-DNA hybrids in genetic instability of long (GAA)n repeats, which cause Friedreich's ataxia. Knocking out both yeast RNase H enzymes, which counteract the formation of RNA-DNA hybrids, increased (GAA)n repeat expansion and contraction rates when the repetitive sequence was transcribed...
February 13, 2018: Nucleic Acids Research
https://www.readbyqxmd.com/read/29447225/low-apolipoprotein-a-i-levels-in-friedreich-s-ataxia-and-in-frataxin-deficient-cells-implications-for-therapy
#6
QingQing Wang, Lili Guo, Cassandra J Strawser, Lauren A Hauser, Wei-Ting Hwang, Nathaniel W Snyder, David R Lynch, Clementina Mesaros, Ian A Blair
Friedreich's ataxia (FA) is an autosomal recessive neurodegenerative disorder, which results primarily from reduced expression of the mitochondrial protein frataxin. FA has an estimated prevalence of one in 50,000 in the population, making it the most common hereditary ataxia. Paradoxically, mortality arises most frequently from cardiomyopathy and cardiac failure rather than from neurological effects. Decreased high-density lipoprotein (HDL) and apolipoprotein A-I (ApoA-l) levels in the general population are associated with an increased risk of mortality from cardiomyopathy and heart failure...
2018: PloS One
https://www.readbyqxmd.com/read/29446975/primary-adrenal-insufficiency-due-to-hereditary-apolipoprotein-ai-amyloidosis-endocrine-involvement-beyond-hypogonadism
#7
Adriana Pané, Sabina Ruiz, Aida Orois, Daniel Martínez, Mattia Squarcia, Lydia Sastre, Pablo Ruiz, Joan Caballería, Mireia Mora, Felicia A Hanzu, Irene Halperin
Several mutations in the gene encoding apolipoprotein AI (apoAI) have been described as a cause of familial amyloidosis. Individuals with apoAI-derived (AApoAI) amyloidosis frequently manifest with liver, kidney, laryngeal, skin and myocardial involvement. Although primary hypogonadism (PH) is considered almost pathognomonic of this disease, until now, primary adrenal insufficiency (PAI) has not been described as a common clinical feature. Here, we report the first kindred with AApoAI amyloidosis in which PAI is well-documented...
February 15, 2018: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/29446520/lenalidomide-as-a-novel-therapy-for-gastrointestinal-angiodysplasia-in-von-willebrand-disease
#8
N V Khatri, B Patel, D R Kohli, S S Solomon, K Bull-Henry, C M Kessler
INTRODUCTION: Lenalidomide is a thalidomide analog with anti-angiogenic properties. Previous case reports suggest its efficacy in preventing gastrointestinal bleeding (GIB) secondary to angiodysplasia (AD) in hereditary haemorrhagic telangiectasia and potentially in reversing AD. We present the first case series to explore lenalidomide as a treatment for AD-related GIB in patients with von Willebrand disease (VWD). METHODS: A retrospective chart review was conducted to include patients with VWD, who were evaluated from 2010 to 2013 and who had received lenalidomide to treat recurrent GIB secondary to AD...
February 15, 2018: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/29442465/polymorphism-of-gly39glu-c-116g-a-hmsh6-is-associated-with-sporadic-colorectal-cancer-development-in-the-polish-population-preliminary-results
#9
Piotr Zelga, Karolina Przybyłowska-Sygut, Marta Zelga, Adam Dziki, Ireneusz Majsterek
BACKGROUND: Colorectal cancer (CRC) remains a major source of cancer-related mortality, accounting for 10% of all cancer-related deaths. DNA mismatch repair mechanism (MMR) responsible for correcting errors generated during DNA replication and its deficiency is associated with both hereditary and sporadic CRC. Single-nucleotide polymorphisms (SNPs) are the most common forms of genetic variation, and it has been shown that the SNPs in MMR genes may modify CRC risk. OBJECTIVES: The aim of the study was to determine the relationship between gene polymorphism Glu39Gly (c...
December 2017: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
https://www.readbyqxmd.com/read/29442300/population-screening-for-hereditary-haemochromatosis-in-australia-construction-and-validation-of-a-state-transition-cost-effectiveness-model
#10
Barbara de Graaff, Lei Si, Amanda L Neil, Kwang Chien Yee, Kristy Sanderson, Lyle C Gurrin, Andrew J Palmer
INTRODUCTION: HFE-associated haemochromatosis, the most common monogenic disorder amongst populations of northern European ancestry, is characterised by iron overload. Excess iron is stored in parenchymal tissues, leading to morbidity and mortality. Population screening programmes are likely to improve early diagnosis, thereby decreasing associated disease. Our aim was to develop and validate a health economics model of screening using utilities and costs from a haemochromatosis cohort...
March 2017: PharmacoEconomics Open
https://www.readbyqxmd.com/read/29439543/patient-centered-care-in-breast-cancer-genetic-clinics
#11
Anne Brédart, Amélie Anota, Julia Dick, Violetta Kuboth, Olivier Lareyre, Antoine De Pauw, Alejandra Cano, Dominique Stoppa-Lyonnet, Rita Schmutzler, Sylvie Dolbeault, Jean-Luc Kop
With advances in breast cancer (BC) gene panel testing, risk counseling has become increasingly complex, potentially leading to unmet psychosocial needs. We assessed psychosocial needs and correlates in women initiating testing for high genetic BC risk in clinics in France and Germany, and compared these results with data from a literature review. Among the 442 counselees consecutively approached, 212 (83%) in France and 180 (97%) in Germany, mostly BC patients (81% and 92%, respectively), returned the 'Psychosocial Assessment in Hereditary Cancer' questionnaire...
February 12, 2018: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/29437580/the-epidemiology-of-childhood-blindness-and-severe-visual-impairment-in-indonesia
#12
Mohammad Muhit, Tasneem Karim, Johurul Islam, Denny Hardianto, Habibah Setyawati Muhiddin, Setia A Purwanta, Suhardjo Suhardjo, Doni Widyandana, Gulam Khandaker
BACKGROUND: The magnitude of blindness among children in Indonesia is unknown. In this study, we aimed to define the magnitude and aetiology of childhood blindness in two parts of Indonesia. METHOD: Children aged 0-15 years, identified through key informant method and from special schools and community-based rehabilitation programme in Sumba and Yogyakarta, were assessed following WHO protocol and definitions for ophthalmological assessment and classification of visual impairment and blindness among children...
February 6, 2018: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/29436780/autosomal-tubulointerstitial-kidney-disease-muc1-type-differential-proteomics-suggests-that-mutated-muc1-insc-affects-vesicular-transport-in-renal-epithelial-cells
#13
Simon Staubach, Andrea Wenzel, Bodo B Beck, Markus M Rinschen, Stefan Müller, Franz-Georg Hanisch
Autosomal dominant tubulointerstitial kidney disease associated to the MUC1 gene (ADTKD-MUC1; formerly MCKD1) belongs to a heterogenous group of rare hereditary kidney diseases that is prototypically caused by frameshift mutations in the MUC1 repeat domain. The mutant MUC1(insC) lacks the transmembrane domaine, exhibits aberant cellular topology and hence might gain a function during the pathological process. To get insight into potential pathomechanisms we performed differential proteomics of extracellular vesicles shed by renal epithelia into the urine of patients...
February 13, 2018: Proteomics
https://www.readbyqxmd.com/read/29432474/community-knowledge-perceptions-and-attitudes-regarding-leprosy-in-rural-cameroon-the-case-of-ekondotiti-and-mbonge-health-districts-in-the-south-west-region
#14
Earnest Njih Tabah, Dickson Shey Nsagha, Anne-Cecile Zoung-Kanyi Bissek, Theophilus Ngeh Njamnshi, Irine Ngani-Nformi Njih, Gerd Pluschke, Alfred Kongnyu Njamnshi
BACKGROUND: Although leprosy is one of the oldest diseases known to humanity, it remains largely misunderstood. Misconceptions about leprosy leads to stigma towards people with the disease. This study aimed at exploring the knowledge, perceptions and attitudes regarding leprosy in rural Cameroon. METHODS: We carried out a cross-sectional community survey of 233 respondents aged 15-75 years, free from leprosy, and living in two rural health districts of the South-west Region of Cameroon...
February 12, 2018: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/29431910/lipomatoses
#15
Philipp Al Ghazal, Lisa-Lena Grönemeyer, Michael P Schön
Lipomatoses are benign proliferations of adipose tissue, often with typical distribution patterns, which usually occur without clear causes. In contrast to circumscribed lipomas, they develop diffusely and symmetrically and are not surrounded by a fibrous pseudocapsule. The most common form is benign symmetric lipomatosis (BSL; Launois-Bensaude syndrome), of which four types are distinguished based on the distribution pattern of hyperplastic adipose tissue. The etiology and pathogenesis of the disease are still largely unknown, although some forms appear to have a hereditary basis or to be associated with increased alcohol consumption...
February 12, 2018: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
https://www.readbyqxmd.com/read/29431403/mildly-elevated-liver-transaminase-levels-causes-and-evaluation
#16
Robert C Oh, Thomas R Hustead, Syed M Ali, Matthew W Pantsari
Mild, asymptomatic elevations (less than five times the upper limit of normal) of alanine transaminase and aspartate transaminase levels are common in primary care. It is estimated that approximately 10% of the U.S. population has elevated transaminase levels. An approach based on the prevalence of diseases that cause asymptomatic transaminase elevations can help clinicians efficiently identify common and serious liver disease. The most common causes of elevated transaminase levels are nonalcoholic fatty liver disease and alcoholic liver disease...
December 1, 2017: American Family Physician
https://www.readbyqxmd.com/read/29430176/alpha-1-antitrypsin-to-treat-lung-disease-in-alpha-1-antitrypsin-deficiency-recent-developments-and-clinical-implications
#17
REVIEW
Kenneth R Chapman, Joanna Chorostowska-Wynimko, A Rembert Koczulla, Ilaria Ferrarotti, Noel G McElvaney
Alpha 1 antitrypsin deficiency is a hereditary condition characterized by low alpha 1 proteinase inhibitor (also known as alpha 1 antitrypsin [AAT]) serum levels. Reduced levels of AAT allow abnormal degradation of lung tissue, which may ultimately lead to the development of early-onset emphysema. Intravenous infusion of AAT is the only therapeutic option that can be used to maintain levels above the protective threshold. Based on its biochemical efficacy, AAT replacement therapy was approved by the US Food and Drug administration in 1987...
2018: International Journal of Chronic Obstructive Pulmonary Disease
https://www.readbyqxmd.com/read/29429480/-review-of-a-new-subtype-of-hereditary-angio-oedema-with-normal-complement-c1-inhibitor
#18
Maria Bach Okholm-Hansen, Anna Hillert Winther, Christina Fagerberg, Marianne Antonius Jakobsen, Anette Bygum
Hereditary angio-oedema (HAE) is a rare, potentially fatal disease characterized by recurrent swelling of skin and mucosa. Besides HAE with quantitative (type I) or qualitative (type II) deficiency of complement C1-inhibitor (C1-INH), a new subtype of HAE is now described with normal levels of C1-INH. This subtype is possibly underdiagnosed, and a treatment regimen and general knowledge about the condition is still in its infancy. The purpose of this article is to inform Danish doctors about the disease to identify more Danish patients...
February 5, 2018: Ugeskrift for Laeger
https://www.readbyqxmd.com/read/29427840/generation-of-patient-specific-induced-pluripotent-stem-cells-from-leber-s-hereditary-optic-neuropathy
#19
Huai-En Lu, Yi-Ping Yang, Yan-Ting Chen, You-Ren Wu, Chia-Lin Wang, Fu-Ting Tsai, De-Kuang Hwang, Tai-Chi Lin, Shih-Jen Chen, An-Guor Wang, Patrick C H Hsieh, Shih-Hwa Chiou
Leber's hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disease caused by homoplasmic point mutations in complex I subunit genes of mitochondrial DNA. In this report, we generated an induced pluripotent stem cell (iPSCs) line, TVGH-iPSC-010-09, from the peripheral blood mononuclear cells of a female patient with Leber's hereditary optic neuropathy (LHON) by using the Sendai-virus delivery system. The resulting iPSCs retained the disease-causing mitochondrial DNA mutation, expressed pluripotent markers and could differentiate into the three germ layers...
January 31, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29427371/cause-or-compensation-altered-neuronal-ca2-handling-in-huntington-s-disease
#20
REVIEW
James P Mackay, Wissam B Nassrallah, Lynn A Raymond
Huntington's disease (HD) is a hereditary neurodegenerative disorder of typically middle-aged onset for which there is no disease-modifying treatment. Caudate and putamen medium-sized spiny projection neurons (SPNs) most severely degenerate in HD. However, it is unclear why mutant huntingtin protein (mHTT) is preferentially toxic to these neurons or why symptoms manifest only relatively late in life. mHTT interacts with numerous neuronal proteins. Likewise, multiple SPN cellular processes have been described as altered in various HD models...
February 9, 2018: CNS Neuroscience & Therapeutics
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