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https://www.readbyqxmd.com/read/27923259/-established-therapies-and-new-therapeutic-strategies-in-alcoholic-liver-disease
#1
Helmut Karl Seitz, Sebastian Mueller
Chronical alcohol abuse causes more than 200 diseases and/or symptoms and among these alcoholic liver disease (ALD) is of special importance since it occurs frequently and may be life-threatening. In Europe alcohol consumption as well as ALD increased as compared to the rest of the world. It has been estimated that in Europe approximately 500 000 people die every year due to ALD. ALD consists of alcoholic fatty liver, alcoholic steatohepatitis (ASH), alcoholic cirrhosis and hepatocellar cancer (HCC ). Alcohol hepatitis (AH) is a clinical feature with jaundice and liver failure and a high mortality...
December 6, 2016: Zeitschrift Für Gastroenterologie
https://www.readbyqxmd.com/read/27922502/the-limb-girdle-muscular-dystrophies-and-the-dystrophinopathies
#2
Stanley Jones P Iyadurai, John T Kissel
PURPOSE OF REVIEW: The classic approach to identifying and accurately diagnosing limb-girdle muscular dystrophies (LGMDs) relied heavily on phenotypic characterization and ancillary studies including muscle biopsy. Because of rapid advances in genetic sequencing methodologies, several additional LGMDs have been molecularly characterized, and the diagnostic approach to these disorders has been simplified. This article summarizes the epidemiology, clinical features, and genetic defects underlying the LGMDs...
December 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27921426/-gestational-diabetes-mellitus
#3
Hana Krejčí
The present generation of women of childbearing age more frequently suffer from overweight, obesity, initial as well as fully established metabolic syndrome, which together with postponing motherhood until the third decade in life plays an important role in the increasing incidence of gestational diabetes (GDM) that currently affects about 1/5 of pregnant women. However the causal link between diabetes during pregnancy and metabolic diseases in the whole population is mutual. By way of epigenetic changes, maternal diabetes unfavourably programmes metabolism of the offspring, who tend to transfer the disorder to the next generations...
2016: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/27921323/the-application-of-strand-invasion-phenomenon-directed-by-peptide-nucleic-acid-pna-and-single-stranded-dna-binding-protein-ssb-for-the-recognition-of-specific-sequences-of-human-endogenous-retroviral-herv-w-family
#4
Grzegorz Machnik, Łukasz Bułdak, Jarosław Ruczyński, Tomasz Gąsior, Małgorzata Huzarska, Dariusz Belowski, Magdalena Alenowicz, Piotr Mucha, Piotr Rekowski, Bogusław Okopień
The HERV-W family of human endogenous retroviruses represents a group of numerous sequences that show close similarity in genetic composition. It has been documented that some members of HERV-W-derived expression products are supposed to play significant role in humans' pathology, such as multiple sclerosis or schizophrenia. Other members of the family are necessary to orchestrate physiological processes (eg, ERVWE1 coding syncytin-1 that is engaged in syncytiotrophoblast formation). Therefore, an assay that would allow the recognition of particular form of HERV-W members is highly desirable...
December 6, 2016: Journal of Molecular Recognition: JMR
https://www.readbyqxmd.com/read/27921132/-differential-diagnosis-of-juvenile-normal-pressure-glaucoma
#5
K Geidel, P Wiedemann, J D Unterlauft
The case of a 50-year-old female patient with autosomal dominant optic atrophy is described, which was initially misinterpreted and treated as normal pressure glaucoma. Bilateral partial optic atrophy can be diagnosed by chance with mild manifestation of symptoms and can initially be misinterpreted as glaucoma. Taking a detailed medical history and performing a thorough optic nerve head examination can raise the suspicion of hereditary optic atrophy. The reliable detection of autosomal dominant optic atrophy by genetic investigations should be strived for in such cases...
December 5, 2016: Der Ophthalmologe: Zeitschrift der Deutschen Ophthalmologischen Gesellschaft
https://www.readbyqxmd.com/read/27920870/pyle-disease-metaphyseal-dysplasia-presenting-in-two-adult-sisters
#6
Diego Ximenes Soares, Amália Mapurunga Almeida, André Rodrigues Façanha Barreto, Ilze Jucá Alencar E Silva, José Daniel Vieira de Castro, Francisco José Magalhães Pinto, Daniel Aguiar Dias, Lindenberg Barbosa Aguiar
Pyle's disease is an extremely rare skeletal disorder characterized by a benign course and an autosomal recessive genetic pattern of inheritance. Its causal mutation is still unknown. In the medical literature, fewer than 30 cases have been described to date. We report the case of two female siblings, daughters of consanguineous parents, referred to the radiology department complaining of genu valgum. Laboratory tests showed no other relevant findings. Conventional radiography plain films revealed Erlenmeyer flask deformity in bilateral femorotibial metaphyses, metaphyseal flaring of long bones, and mild sclerosis of the skull base...
December 2016: Radiology case reports
https://www.readbyqxmd.com/read/27920806/hereditary-multiple-exostoses-a-review-of-clinical-appearance-and-metabolic-pattern
#7
REVIEW
Giovanni Beltrami, Gabriele Ristori, Guido Scoccianti, Angela Tamburini, Rodolfo Capanna
Hereditary multiple exostoses (HME) is an inherited genetic condition characterized by the presence of multiple exostoses (osteochondromas). MHE is a relatively rare autosomal dominant disorder, mainly caused by loss of function mutations in two genes: exostosin-1 (EXT1) and exostosin-2 (EXT2). These genes are linked to heparan sulfate (HS) synthesis, but the specific molecular mechanism leading to the disruption of the cartilage structure and the consequent exostoses formation is still not resolved. The aim of this paper is to encounter the main aspects of HME reviewing the literature, in order to improve clinical features and evolution, and the metabolic-pathogenetic mechanisms underlying...
May 2016: Clinical Cases in Mineral and Bone Metabolism
https://www.readbyqxmd.com/read/27920713/late-onset-langerhans-cell-histiocytosis-with-cerebellar-ataxia-as-an-initial-symptom
#8
Jung-Min Pyun, Hyeyoung Park, Kyung Chul Moon, Beomseok Jeon
Late-onset progressive cerebellar ataxia is a diagnostic challenge because of a poor correlation between genotype and phenotype, and a broad range of secondary causes that extend beyond the neurological field. We report the case of a 45-year-old woman admitted after 2 years of slowly progressing cerebellar ataxia, dysarthria, and emotional instability. Notably, she was diagnosed with diabetes insipidus at the age of 35. As 'idiopathic cerebellar ataxia' was suspected, diagnostic tests, including genetic testing as well as serum and cerebrospinal fluid analyses, and brain magnetic resonance imaging (MRI) were performed...
September 2016: Case Reports in Neurology
https://www.readbyqxmd.com/read/27920271/the-need-for-a-privacy-standard-for-medical-devices-that-transmit-protected-health-information-used-in-the-precision-medicine-initiative-for-diabetes-and-other-diseases
#9
David C Klonoff, W Nicholson Price
Privacy is an important concern for the Precision Medicine Initiative (PMI) because success of this initiative will require the public to be willing to participate by contributing large amounts of genetic/genomic information and sensor data. This sensitive personal information is intended to be used only for specified research purposes. Public willingness to participate will depend on the public's level of trust that their information will be protected and kept private. Medical devices may constantly provide information...
December 4, 2016: Journal of Diabetes Science and Technology
https://www.readbyqxmd.com/read/27918840/resilience-and-risk-for-alcohol-use-disorders-a-swedish-twin-study
#10
Elizabeth C Long, Sara L Lönn, Jianguang Ji, Paul Lichtenstein, Jan Sundquist, Kristina Sundquist, Kenneth S Kendler
BACKGROUND: Resilience has been shown to be protective against alcohol use disorders (AUDs), but the magnitude and nature of the relationship between these 2 phenotypes are not clear. The aim of this study was to examine the strength of this relationship and the degree to which it results from common genetic or common environmental influences. METHODS: Resilience was assessed on a 9-point scale during a personal interview in 1,653,721 Swedish men aged 17 to 25 years...
December 5, 2016: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/27918193/dna-barcodes-identify-medically-important-tick-species-in-canada
#11
Danielle A Ondrejicka, Kevin C Morey, Robert H Hanner
Medically important ticks (Acari: Ixodidae) are often difficult to identify morphologically. A standardized, molecular approach using a 658 base pair DNA barcode sequence (from the 5' region of the mitochondrial cytochrome c oxidase subunit I gene) was evaluated for its effectiveness in discriminating ticks in North America, with an emphasis on Canadian ticks. DNA barcodes were generated for 96 of 154 specimens representing 26 ixodid species. A genetic cluster analysis was performed on the barcode sequences, which separated specimens into haplogroups closely corresponding with morphologically identified species...
July 19, 2016: Genome Génome / Conseil National de Recherches Canada
https://www.readbyqxmd.com/read/27918163/-the-role-of-trefoil-factor-family-in-gynecological-disease
#12
D Neubert, R Pilka, D Stejskal, G Krejčí
AIM: Trefoil peptides are a family of small proteins that are expressed in a site-specific fashion by certain epithelial tissues. These peptides appear to be important in mucosal healing processes, in neoplastic disease and in human reproduction. DESIGN: Literature review. SETTING: Department of Obstetrics and Gynaecology, University Hospital, Medical Faculty, Palacký University, Olomouc, Czech Republic; Department of Laboratory Biochemistry, Central Moravian Hospital Trust, Member of Agel holding, Prostějov...
2016: Ceská Gynekologie
https://www.readbyqxmd.com/read/27918162/-mutations-in-genes-affecting-fertility-of-men-current-routine-laboratory-genetic-diagnostics-and-searching-for-more-dna-segments-and-genes-influencing-spermatogenesis
#13
I Hrdlička, B Chylíková, K Veselá, M Danková, M Janků, K Řežábek, R Mihalová, F Liška
OBJECTIVE: To present the results of molecular genetics analysis in men with reproductive disorders focusing on the DNA segments and genes which affect spermatogenesis. DESIGN: Original article. SETTING: Institute of Biology and Medical Genetics of the First Faculty of Medicine and General Teaching Hospital, Prague. METHODS: One hundred and twenty-three patients identified with a fertility disorder were screened for mutations of the CFTR gene...
2016: Ceská Gynekologie
https://www.readbyqxmd.com/read/27917414/receptivity-and-preferences-for-lifestyle-programs-to-reduce-cancer-risk-among-lung-cancer-family-members
#14
Lisa A Howell, Tabetha A Brockman, Pamela S Sinicrope, Christi A Patten, Paul A Decker, Allan Busta, Shawn Stoddard, Sheila R McNallan, Ping Yang
BACKGROUND: Lifestyle factors and genetic information has been found to contribute to the occurrence of lung cancer. This study assessed receptivity to participating in lifestyle programs to reduce cancer risk among unaffected lung cancer family members. We also explored demographic, medical, and psychosocial correlates of willingness to participate in lifestyle programs. METHODS: Family members who are part of a lung Cancer Family Registry were asked to fill out a survey assessing their receptivity to cancer risk reduction programs including preferences for an individual or family-based program...
September 2016: Adv Cancer Prev
https://www.readbyqxmd.com/read/27916824/graphene-oxide-nanoribbons-induce-autophagic-vacuoles-in-neuroblastoma-cell-lines
#15
Emanuela Mari, Stefania Mardente, Emanuela Morgante, Marco Tafani, Emanuela Lococo, Flavia Fico, Federica Valentini, Alessandra Zicari
Since graphene nanoparticles are attracting increasing interest in relation to medical applications, it is important to understand their potential effects on humans. In the present study, we prepared graphene oxide (GO) nanoribbons by oxidative unzipping of single-wall carbon nanotubes (SWCNTs) and analyzed their toxicity in two human neuroblastoma cell lines. Neuroblastoma is the most common solid neoplasia in children. The hallmark of these tumors is the high number of different clinical variables, ranging from highly metastatic, rapid progression and resistance to therapy to spontaneous regression or change into benign ganglioneuromas...
November 29, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27916124/alkaline-phosphatase-fused-repebody-as-a-new-format-of-immuno-reagent-for-an-immunoassay
#16
Hyo-Deok Seo, Joong-Jae Lee, Yu Jung Kim, Oliver Hantschel, Seung-Goo Lee, Hak-Sung Kim
Enzyme-linked immunoassays based on an antibody-antigen interaction are widely used in biological and medical sciences. However, the conjugation of an enzyme to antibodies needs an additional chemical process, usually resulting in randomly cross-linked molecules and a loss of the binding affinity and enzyme activity. Herein, we present the development of an alkaline phosphatase-fused repebody as a new format of immuno-reagent for immunoassays. A repebody specifically binding to human TNF-α (hTNF-α) was selected through a phage display, and its binding affinity was increased up to 49 nM using a modular engineering approach...
January 15, 2017: Analytica Chimica Acta
https://www.readbyqxmd.com/read/27915479/trends-in-next-generation-sequencing-and-a-new-era-for-whole-genome-sequencing
#17
REVIEW
Sang Tae Park, Jayoung Kim
This article is a mini-review that provides a general overview for next-generation sequencing (NGS) and introduces one of the most popular NGS applications, whole genome sequencing (WGS), developed from the expansion of human genomics. NGS technology has brought massively high throughput sequencing data to bear on research questions, enabling a new era of genomic research. Development of bioinformatic software for NGS has provided more opportunities for researchers to use various applications in genomic fields...
November 2016: International Neurourology Journal
https://www.readbyqxmd.com/read/27915035/hyperinsulinaemic-hypoglycaemia-in-children-and-adults
#18
REVIEW
Pratik Shah, Sofia A Rahman, Huseyin Demirbilek, Maria Güemes, Khalid Hussain
Pancreatic β cells are functionally programmed to release insulin in response to changes in plasma glucose concentration. Insulin secretion is precisely regulated so that, under normal physiological conditions, fasting plasma glucose concentrations are kept within a narrow range of 3·5-5·5 mmol/L. In hyperinsulinaemic hypoglycaemia, insulin secretion becomes dysregulated (ie, uncoupled from glucose metabolism) so that insulin secretion persists in the presence of low plasma glucose concentrations. Hyperinsulinaemic hypoglycaemia is the most common cause of severe and persistent hypoglycaemia in neonates and children...
November 30, 2016: Lancet Diabetes & Endocrinology
https://www.readbyqxmd.com/read/27914874/transmission-networks-and-risk-of-hiv-infection-in-kwazulu-natal-south-africa-a-community-wide-phylogenetic-study
#19
Tulio de Oliveira, Ayesha B M Kharsany, Tiago Gräf, Cherie Cawood, David Khanyile, Anneke Grobler, Adrian Puren, Savathree Madurai, Cheryl Baxter, Quarraisha Abdool Karim, Salim S Abdool Karim
BACKGROUND: The incidence of HIV infection in young women in Africa is very high. We did a large-scale community-wide phylogenetic study to examine the underlying HIV transmission dynamics and the source and consequences of high rates of HIV infection in young women in South Africa. METHODS: We did a cross-sectional household survey of randomly selected individuals aged 15-49 years in two neighbouring subdistricts (one urban and one rural) with a high burden of HIV infection in KwaZulu-Natal, South Africa...
November 30, 2016: Lancet HIV
https://www.readbyqxmd.com/read/27914838/lacrimal-gland-involvement-in-blepharophimosis-ptosis-epicanthus-inversus-syndrome
#20
Ana Filipa Duarte, Patricia M S Akaishi, Greice A de Molfetta, Salomão Chodraui-Filho, Murilo Cintra, Alcina Toscano, Wilson Araujo Silva, Antonio A V Cruz
PURPOSE: To describe the involvement of the lacrimal gland (LG) in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). DESIGN: Observational, cross-sectional study. PARTICIPANTS: Twenty-one patients with BPES (10 female, 11 male) aged on average 15 years (range, 2-39 years), from 3 Brazilian medical centers and 1 Portuguese medical center. METHODS: Patients had their ocular surface evaluated with slit-lamp biomicroscopy, and tear production quantified with the Schirmer test I...
November 30, 2016: Ophthalmology
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