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https://www.readbyqxmd.com/read/28110418/occurrence-of-atypical-hus-associated-with-influenza-b
#1
Karen van Hoeve, Corinne Vandermeulen, Marc Van Ranst, Elena Levtchenko, Lambert van den Heuvel, Djalila Mekahli
: Hemolytic uremic syndrome (HUS) is a disease characterized by thrombotic microangiopathy with a triad of non-immune hemolytic anemia, thrombocytopenia, and renal impairment. Approximately 10% of cases of HUS are classified as atypical (aHUS). While today many genetically forms of aHUS pathology are known, only about 50% of carriers precipitate the disease. The reason remains unclear, and triggering events like intercurrent infections have been postulated. In rare cases, influenza A is the known trigger of aHUS; however, no cases of influenza B have been reported...
January 21, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28110385/the-prevalence-of-anticitrullinated-protein-antibodies-increases-with-age-in-healthy-individuals-at-risk-for-rheumatoid-arthritis
#2
D Alpizar-Rodriguez, Laure Brulhart, Ruediger B Mueller, Burkhard Möller, Jean Dudler, Adrian Ciurea, Ulrich A Walker, Ines Von Mühlenen, Diego Kyburz, Pascal Zufferey, Michael Mahler, Sylvette Bas, Danielle Gascon, Céline Lamacchia, Pascale Roux-Lombard, Kim Lauper, Michael J Nissen, Delphine S Courvoisier, Cem Gabay, Axel Finckh
Transition from genetic risk to the development of systemic autoimmunity associated with rheumatoid arthritis (RA) is considered a key step for the development of RA and often referred to as the immune onset of the disease. The aim of this study is to identify predictors for the presence of anticitrullinated protein antibodies (ACPA) as a marker of systemic autoimmunity associated with RA in a high-risk population, an ongoing cohort of first-degree relatives of patients with RA. We assessed the presence of ACPA in individuals without clinical evidence of RA...
January 21, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28110369/neuroradiology-of-human-prion-diseases-diagnosis-and-differential-diagnosis
#3
REVIEW
Simona Gaudino, Emma Gangemi, Raffaella Colantonio, Annibale Botto, Emanuela Ruberto, Rosalinda Calandrelli, Matia Martucci, Maria Gabriella Vita, Carlo Masullo, Alfonso Cerase, Cesare Colosimo
Human transmissible spongiform encephalopathies (TSEs), or prion diseases, are invariably fatal conditions associated with a range of clinical presentations. TSEs are classified as sporadic [e.g. sporadic Creutzfeldt-Jakob disease (sCJD), which is the most frequent form], genetic (e.g. Gerstmann-Straussler-Scheinker disease, fatal familial insomnia, and inherited CJD), and acquired or infectious (e.g. Kuru, iatrogenic CJD, and variant CJD). In the past, brain imaging played a supporting role in the diagnosis of TSEs, whereas nowadays magnetic resonance imaging (MRI) plays such a prominent role that MRI findings have been included in the diagnostic criteria for sCJD...
January 21, 2017: La Radiologia Medica
https://www.readbyqxmd.com/read/28110336/new-territory-for-an-old-disease-5-alpha-reductase-type-2-deficiency-in-bulgaria
#4
Silvia Andonova, Ralitsa Robeva, Radoslava Vazharova, Susanne Ledig, Liliana Grozdanova, Elisaveta Stefanova, Irena Bradinova, Tihomir Todorov, George Hadjidekov, Milko Sirakov, Peter Wiacker, Philip Kumanov, Alexey Savov
Disorders/differences of sexual development (DSD) are a group of conditions, some of which can be clinically indistinguishable mainly due to their phenotypic variability. Defining the molecular basis of their wide spectrum is still in progress. The diagnosis of 5-alpha-reductase type 2 (5α-reductase-2) deficiency is difficult especially in newborns and pre-pubertal individuals, and as a result its frequency might be underestimated. In the present study, we describe the clinical characteristics and molecular defects in 3 nonrelated 5α-reductase-2 deficiency patients of Bulgarian descent...
January 21, 2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28110250/detection-and-discrimination-of-maintenance-and-de-novo-cpg-methylation-events-using-methylbreak
#5
William Hsu, Augustus T Mercado, George Hsiao, Jui-Ming Yeh, Chung-Yung Chen
Understanding the principles governing the establishment and maintenance activities of DNA methyltransferases (DNMTs) can help in the development of predictive biomarkers associated with genetic disorders and diseases. A detection system was developed that distinguishes and quantifies methylation events using methylation-sensitive endonucleases and molecular beacon technology. MethylBreak (MB) is a 22-mer oligonucleotide with one hemimethylated and two unmethylated CpG sites, which are also recognition sites for Sau96I and SacII, and is attached to a fluorophore and a quencher...
January 14, 2017: Biosensors & Bioelectronics
https://www.readbyqxmd.com/read/28110103/the-retromer-complex-system-in-a-transgenic-mouse-model-of-ad-influence-of-age
#6
Jin Chu, Domenico Praticò
Deficiencies of the retrograde transport mediated by the retromer complex have been described in Alzheimer's disease (AD). Genetic manipulation of retromer modulates brain amyloidosis in Tg2576 mice. However, whether the complex is altered during the development of the AD-like phenotype remains unknown. In this study we assayed the expression levels of the vacuolar sorting protein 35 (VPS35), VPS26, VPS29, and its cargo proteins, cation independent mannose 6-phosphate receptor, sortilin-related receptor in brains of Tg2576 and controls at the ages of 3, 8, and 14 months...
January 3, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28109769/molecular-typing-and-diagnosis-of-anaplasma-spp-closely-related-to-anaplasma-phagocytophilum-in-ruminants-from-tunisia
#7
Mourad Ben Said, Hanène Belkahia, Narjesse El Mabrouk, Mariem Saidani, Mariem Ben Hassen, Alberto Alberti, Rosanna Zobba, Skander Bouattour, Ali Bouattour, Lilia Messadi
Accurate diagnosis of animal and zoonotic diseases, such as granulocytic anaplasmosis, is crucial to estimate risk during control programs. In this study, 16S rRNA nested PCR and RFLP assay were combined to investigate the presence of Anaplasma phagocytophilum and genetically related strains (namely A. phagocytophilum-like 1 and 2) in 936 Tunisian ruminants. By using this method, A. phagocytophilum was not detected in any of the tested animals, while A. phagocytophilum-like 1 and A. phagocytophilum-like 2 were detected at variable prevalence rates in sheep, goats and cattle at coinfection rates respectively of 3...
January 16, 2017: Ticks and Tick-borne Diseases
https://www.readbyqxmd.com/read/28109725/6q12-and-11p14-variants-are-associated-with-postnatal-exhaled-nitric-oxide-and-respiratory-symptoms
#8
Oliver Fuchs, Olga Gorlanova, Philipp Latzin, Anne Schmidt, Maximilian Schieck, Antoaneta A Toncheva, Sven Michel, Vincent D Gaertner, Michael Kabesch, Urs Frey
BACKGROUND: Exhaled nitric oxide (eNO) is a biomarker of airway inflammation and seems to precede respiratory symptoms, such as asthma in childhood. Identifying genetic determinants of postnatal eNO may aid in unraveling the role of eNO in epithelial function or airway inflammation and disease. OBJECTIVE: To identify genetic determinants of early postnatal eNO and subsequent respiratory symptoms during the first year of life. METHODS: Within a population-based birth cohort, eNO was measured in healthy term infants aged 5 weeks during quiet tidal breathing in unsedated sleep...
January 18, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28109622/genetics-for-the-identification-of-lipid-targets-beyond-pcsk9
#9
REVIEW
Linda R Wang, Robert A Hegele
From studies of rare families to genome-wide associations in populations, understanding of human genetics has accelerated the search for new drug targets for the prevention of atherosclerotic cardiovascular disease. DNA sequencing and genome-wide analyses of DNA markers have illuminated rare as well as common variants in genes that regulate lipids and ultimately atherosclerosis risk. A recent innovative approach called Mendelian randomization can endorse specific genes and variants as causative not just for lipid disturbances, but also for clinical cardiovascular end points...
November 11, 2016: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/28109590/phenotypic-genetic-and-single-nucleotide-polymorphism-marker-associations-between-calf-diseases-and-subsequent-performance-and-disease-occurrences-of-first-lactation-german-holstein-cows
#10
M Mahmoud, T Yin, K Brügemann, S König
A total of 31,396 females born from 2010 to 2013 in 43 large-scale Holstein-Friesian herds were phenotyped for calf and cow disease traits using a veterinarian diagnosis key. Calf diseases were general disease status (cGDS), calf diarrhea (cDIA), and calf respiratory disease (cRD) recorded from birth to 2 mo of age. Incidences were 0.48 for cGDS, 0.28 for cRD, and 0.21 for cDIA. Cow disease trait recording focused on the early period directly after calving in first parity, including the interval from 10 d before calving to 200 d in lactation...
January 18, 2017: Journal of Dairy Science
https://www.readbyqxmd.com/read/28109404/how-could-breast-cancer-molecular-features-contribute-to-locoregional-treatment-decision-making
#11
REVIEW
Pelagia G Tsoutsou, Marie-Catherine Vozenin, André-Dante Durham, Jean Bourhis
Systemic treatments are tailored to breast cancer (BC) heterogeneity, which is not yet taken into account for radiotherapy (RT) personalization. The primary objective of this review is to summarize existing data suggesting BC subtypes and genetic assays are prognostic and predictive biomarkers useful for RT decision-making and to provide implications for their incorporation into future translational and clinical research. The evidence suggesting that BC subtypes also exhibit distinct "locoregional recurrence (LRR)" patterns is retrospective but consistent and validated in over fifteen studies...
February 2017: Critical Reviews in Oncology/hematology
https://www.readbyqxmd.com/read/28109402/frontline-treatment-of-acute-myeloid-leukemia-in-adults
#12
REVIEW
Gevorg Tamamyan, Tapan Kadia, Farhad Ravandi, Gautam Borthakur, Jorge Cortes, Elias Jabbour, Naval Daver, Maro Ohanian, Hagop Kantarjian, Marina Konopleva
Recent years have highlighted significant progress in understanding the underlying genetic and epigenetic signatures of acute myeloid leukemia(AML). Most importantly, novel chemotherapy and targeted strategies have led to improved outcomes in selected genetic subsets. AML is a remarkably heterogeneous disease, and individualized therapies for disease-specific characteristics (considering patients' age, cytogenetics, and mutations) could yield better outcomes. Compared with the historical 5-to 10-year survival rate of 10%, the survival of patients who undergo modern treatment approaches reaches up to 40-50%, and for specific subsets, the improvements are even more dramatic; for example, in acute promyelocytic leukemia, the use of all-trans retinoic acid and arsenic trioxide improved survival from 30 to 40% up to 80 to 90%...
February 2017: Critical Reviews in Oncology/hematology
https://www.readbyqxmd.com/read/28109190/qtl-mapping-and-candidate-genes-for-resistance-to-fusarium-ear-rot-and-fumonisin-contamination-in-maize
#13
Valentina Maschietto, Cinzia Colombi, Raul Pirona, Giorgio Pea, Francesco Strozzi, Adriano Marocco, Laura Rossini, Alessandra Lanubile
BACKGROUND: Fusarium verticillioides is a common maize pathogen causing ear rot (FER) and contamination of the grains with the fumonisin B1 (FB1) mycotoxin. Resistance to FER and FB1 contamination are quantitative traits, affected by environmental conditions, and completely resistant maize genotypes to the pathogen are so far unknown. In order to uncover genomic regions associated to reduced FER and FB1 contamination and identify molecular markers for assisted selection, an F2:3 population of 188 progenies was developed crossing CO441 (resistant) and CO354 (susceptible) genotypes...
January 21, 2017: BMC Plant Biology
https://www.readbyqxmd.com/read/28109013/investigation-of-genetic-defects-in-severe-combined-immunodeficiency-patients-from-turkey-by-targeted-sequencing
#14
Baran Erman, Ivan Bilic, Tatjana Hirschmugl, Elisabeth Salzer, Heidrun Boztug, Özden Sanal, Deniz Çağdaş Ayvaz, Ilhan Tezcan, Kaan Boztug
Primary immunodeficiencies (PIDs) represent a large group of disorders with an increased susceptibility to infections. Severe combined immunodeficiency (SCID) is the most severe form of primary immunodeficiencies (PIDs) with marked T-cell lymphopenia. Investigation of the genetic etiology using classical Sanger sequencing is associated with considerable diagnostic delay. We here established a custom-designed, next generation sequencing-based panel to efficiently identify disease-causing genetic defects in PID patients and applied this method in SCID patients of Turkish origin with previously undefined genetic etiology...
January 21, 2017: Scandinavian Journal of Immunology
https://www.readbyqxmd.com/read/28109005/the-mboat7-variant-rs641738-increases-inflammation-and-fibrosis-in-chronic-hepatitis-b
#15
Khaled Thabet, Henry Lik Yuen Chan, Salvatore Petta, Alessandra Mangia, Thomas Berg, Andre Boonstra, Willem P Brouwer, Maria Lorena Abate, Vincent Wai-Sun Wong, Maiiada Nazmy, Janett Fischer, Christopher Liddle, Jacob George, Mohammed Eslam
Chronic hepatitis B (CHB) is characterized by hepatic inflammation that promotes progression to cirrhosis and predisposes to the development of hepatocellular carcinoma (HCC). Subtle inter-individual genetic variation, viral and environmental factors interact to determine the disease progression between individuals. Recently, the rs641738 Membrane Bound O-Acyltransferase Domain Containing 7 (MBOAT7) polymorphism was demonstrated to influence histological liver damage in alcoholic liver disease, nonalcoholic fatty liver disease and hepatitis C, but no data are available for CHB...
January 20, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/28108859/the-arc-gene-confers-genetic-susceptibility-to-alzheimer-s-disease-in-han-chinese
#16
Rui Bi, Li-Li Kong, Min Xu, Guo-Dong Li, Deng-Feng Zhang, Tao Li, Yiru Fang, Chen Zhang, Buchang Zhang, Yong-Gang Yao
Alzheimer's disease (AD) is the most common form of dementia. The deposition of β-amyloid (Aβ) plaques in the brain was considered one of the main neuropathological hallmarks of AD. As the loss of synapses always occurs during AD progression, AD has been gradually regarded as a "synaptopathy." The activity-regulated cytoskeleton-associated protein (Arc) was recently identified as a key factor for AD due to its active roles in synaptic plasticity, learning, memory, and Aβ generation. However, there is little evidence to support the association of the Arc gene with AD...
January 20, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28108847/airway-mucus-inflammation-and-remodeling-emerging-links-in-the-pathogenesis-of-chronic-lung-diseases
#17
REVIEW
Zhe Zhou-Suckow, Julia Duerr, Matthias Hagner, Raman Agrawal, Marcus A Mall
Airway mucus obstruction is a hallmark of many chronic lung diseases including rare genetic disorders such as cystic fibrosis (CF) and primary ciliary dyskinesia, as well as common lung diseases such as asthma and chronic obstructive pulmonary disease (COPD), which have emerged as a leading cause of morbidity and mortality worldwide. However, the role of excess airway mucus in the in vivo pathogenesis of these diseases remains poorly understood. The generation of mice with airway-specific overexpression of epithelial Na(+) channels (ENaC), exhibiting airway surface dehydration (mucus hyperconcentration), impaired mucociliary clearance (MCC) and mucus plugging, led to a model of muco-obstructive lung disease that shares key features of CF and COPD...
January 20, 2017: Cell and Tissue Research
https://www.readbyqxmd.com/read/28108845/liver-involvement-in-congenital-disorders-of-glycosylation-cdg-a-systematic-review-of-the-literature
#18
REVIEW
D Marques-da-Silva, V Dos Reis Ferreira, M Monticelli, P Janeiro, P A Videira, P Witters, J Jaeken, D Cassiman
Congenital disorders of glycosylation (CDG) are a rapidly growing family of genetic diseases caused by defects in glycosylation. Nearly 100 CDG types are known so far. Patients present a great phenotypic diversity ranging from poly- to mono-organ/system involvement and from very mild to extremely severe presentation. In this literature review, we summarize the liver involvement reported in CDG patients. Although liver involvement is present in only a minority of the reported CDG types (22 %), it can be debilitating or even life-threatening...
January 20, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28108744/increased-breast-cancer-risk-with-habp1-p32-gc1qr-genetic-polymorphism-rs2285747-and-its-upregulation-in-northern-chinese-women
#19
Yongdong Jiang, Hao Wu, Jing Liu, Yanbo Chen, Jingjing Xie, Yashuang Zhao, Da Pang
OBJECT: Hyaluronic acid binding protein 1 (HABP1/p32/gC1qR) is overexpressed in breast cancer. However, it is unknown whether HABP1 gene polymorphisms affect breast cancer risk. This study aims to evaluate the potential association of single nucleotide polymorphisms (SNPs) of HABP1 with breast cancer in northern Chinese women. RESULTS: The minor allele of rs2285747 was strongly associated with breast cancer with OR of 1.553 (95% CI = 1.251-1.927). SNP rs2285747 was also associated with high HABP1 protein expression under the co-dominant and dominant model (p = 0...
January 19, 2017: Oncotarget
https://www.readbyqxmd.com/read/28108555/immune-dysregulation-may-contribute-to-disease-pathogenesis-in-spinal-muscular-atrophy-mice
#20
Marc-Olivier Deguise, Yves De Repentigny, Emily McFall, Nicole Auclair, Subash Sad, Rashmi Kothary
Spinal muscular atrophy (SMA) has long been solely considered a neurodegenerative disorder. However, recent work has highlighted defects in many other cell types that could contribute to disease aetiology. Interestingly, the immune system has never been extensively studied in SMA. Defects in lymphoid organs could exacerbate disease progression by neuroinflammation or immunodeficiency. Smn depletion led to severe alterations in the thymus and spleen of two different mouse models of SMA. The spleen from Smn depleted mice was dramatically smaller at a very young age and its histological architecture was marked by mislocalization of immune cells in the Smn(2B/-) model mice...
January 19, 2017: Human Molecular Genetics
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