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https://www.readbyqxmd.com/read/28922727/the-relevance-of-gastric-cancer-biomarkers-in-prognosis-and-pre-and-post-chemotherapy-in-clinical-practice
#1
REVIEW
Muhammad Abbas, Murad Habib, Muhammad Naveed, Kumaragurubaran Karthik, Kuldeep Dhama, Meiqi Shi, Chen Dingding
Gastric cancer (GC) is one among the major cancer types, causing human deaths and present noticeable heterogeneity. The incidences and mortality rates are higher in males in comparison to females with a male to female ratio of 2.3:1. A lot of studies have revealed out the molecular basis, pathogenesis, invasion and metastasis related findings of gastric stomach cancer. Present review encompasses the salient information on various biomarkers for the early diagnosis, treatment and prognosis of gastric cancer elaborate the clinical importance of serum tumor markers in patients with this cancer as well as checking the growths, together with epigenetic changes and genetic polymorphisms...
September 14, 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/28922317/medical-genetic-services-in-a-developing-country-lesson-from-thailand
#2
Chanin Limwongse
PURPOSE OF REVIEW: To give an example of how advances in medical genetics impact a developing country and how Thailand struggle to improve medical genetics services. RECENT FINDINGS: Thailand is an example of developing country with limited resources, low geneticist to population ratio, formally decentralized even though practically centralized healthcare system and growing public interest in medical genetic technology. Nonetheless, efforts have been and still being made in regard to expanding clinical genetics services, improving access to laboratory diagnosis, increasing rare disease medication in national formulary, and training of medical genetics personnel...
September 16, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28918537/reverse-genetics-of-filoviruses
#3
Thomas Hoenen, Janine Brandt, Yíngyún Caì, Jens H Kuhn, Courtney Finch
Reverse genetics systems are used for the generation of recombinant viruses. For filoviruses, this technology has been available for more than 15 years and has been used to investigate questions regarding the molecular biology, pathogenicity, and host adaptation determinants of these viruses. Further, reporter-expressing, recombinant viruses are increasingly used as tools for screening for and characterization of candidate medical countermeasures. Thus, reverse genetics systems represent powerful research tools...
September 17, 2017: Current Topics in Microbiology and Immunology
https://www.readbyqxmd.com/read/28918391/genetic-polymorphisms-associated-with-the-risk-of-concussion-in-1056-college-athletes-a-multicentre-prospective-cohort-study
#4
Thomas Roland Terrell, Ruth Abramson, Jeffery T Barth, Ellen Bennett, Robert C Cantu, Richard Sloane, Daniel T Laskowitz, David M Erlanger, Douglas McKeag, Gregory Nichols, Verle Valentine, Leslie Galloway
BACKGROUND/AIM: To evaluate the association of genetic polymorphisms APOE, APOE G-219T promoter, microtubule associated protein(MAPT)/tau exon 6 Ser(53)Pro, MAPT/tau Hist(47)Tyr, IL-6572 G/C and IL-6R(Asp)358(Ala) with the risk of concussion in college athletes. METHODS: A 23-centre prospective cohort study of 1056 college athletes with genotyping was completed between August 2003 and December 2012. All athletes completed baseline medical and concussion questionnaires, and post-concussion data were collected for athletes with a documented concussion...
September 16, 2017: British Journal of Sports Medicine
https://www.readbyqxmd.com/read/28917829/a-chinese-boy-with-geleophysic-dysplasia-caused-by-compound-heterozygous-mutations-in-adamtsl2
#5
Li Dongxiao, Dong Hui, Zheng Hong, Song Jinqing, Li Xiyuan, Jin Ying, Liu Yupeng, Yang Yanling
Geleophysic dysplasia, belonging to the group of acromelic dysplasia, is a rare genetic disease. Two genes, FBN1 and ADAMTSL2, were known to be linked to this disorder. The disorder presents as extreme short stature, short limbs, small hands and feet, stubby fingers and toes, joint stiffness, toe walking, skin thickening, progressive cardiac valvular thickening and characteristic facial features, including a round face with full cheeks. Here, we report the first Chinese case with geleophysic dysplasia type 1 based on clinical and genetic features...
September 13, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28917658/multiple-events-of-gene-manipulation-via-in-pouch-electroporation-in-a-marsupial-model-of-mammalian-forebrain-development
#6
Annalisa Paolino, Laura R Fenlon, Peter Kozulin, Linda J Richards, Rodrigo Suárez
BACKGROUND: The technique of in utero electroporation has been widely used in eutherians, such as mice and rats, to investigate brain development by selectively manipulating gene expression in specific neuronal populations. A major challenge, however, is that surgery is required to access the embryos, affecting animal survival and limiting the number of times it can be performed within the same litter. New method: Marsupials are born at an early stage of brain development as compared to eutherians...
September 13, 2017: Journal of Neuroscience Methods
https://www.readbyqxmd.com/read/28917219/reuma-pt-contribution-to-the-knowledge-of-immune-mediated-systemic-rheumatic-diseases
#7
Maria José Santos, Helena Canhão, Ana Filipa Mourão, Filipa Oliveira Ramos, Cristina Ponte, Cátia Duarte, Anabela Barcelos, Fernando Martins, José António Melo Gomes
Patient registries are key instruments aimed at a better understanding of the natural history of diseases, at assessing the effectiveness of therapeutic interventions, as well as identifying rare events or outcomes that are not captured in clinical trials. However, the potential of registries goes far beyond these aspects. For example, registries promote the standardization of clinical practice, can also provide information on domains that are not routinely collected in clinical practice and can support decision-making...
September 14, 2017: Acta Reumatológica Portuguesa
https://www.readbyqxmd.com/read/28916377/clinical-and-molecular-characterization-of-two-chinese-patients-with-type-2-congenital-generalized-lipodystrophy
#8
Ruimin Chen, Xin Yuan, Jian Wang, Ying Zhang
BACKGROUND: Type 2 congenital generalized lipodystrophy (CGL2, OMIM 269700) is a rare autosomal recessive disease, characterized by the generalized absence of adipose tissue at birth or in early infancy. Pathogenic variants in BSCL2 gene have been reported to be responsible for CGL2. The aim of this study is to analyze the clinical and genetic characteristics of two Chinese patients with CGL2, and with particular focus on the BSCL2 gene sequence variants. METHODS: Medical history, clinical manifestations, physical examination, laboratory data, and ultrasonography findings were analyzed for the two patients with CGL2...
September 12, 2017: Gene
https://www.readbyqxmd.com/read/28916311/lenalidomide-maintenance-after-first-line-therapy-for-high-risk-chronic-lymphocytic-leukaemia-cllm1-final-results-from-a-randomised-double-blind-phase-3-study
#9
Anna Maria Fink, Jasmin Bahlo, Sandra Robrecht, Othman Al-Sawaf, Ali Aldaoud, Holger Hebart, Kathleen Jentsch-Ullrich, Steffen Dörfel, Kirsten Fischer, Clemens-Martin Wendtner, Thomas Nösslinger, Paolo Ghia, Francesc Bosch, Arnon P Kater, Hartmut Döhner, Michael Kneba, Karl-Anton Kreuzer, Eugen Tausch, Stephan Stilgenbauer, Matthias Ritgen, Sebastian Böttcher, Barbara Eichhorst, Michael Hallek
BACKGROUND: The combined use of genetic markers and detectable minimal residual disease identifies patients with chronic lymphocytic leukaemia with poor outcome after first-line chemoimmunotherapy. We aimed to assess lenalidomide maintenance therapy in these high-risk patients. METHODS: In this randomised, double-blind, phase 3 study (CLLM1; CLL Maintenance 1 of the German CLL Study Group), patients older than 18 years and diagnosed with immunophenotypically confirmed chronic lymphocytic leukaemia with active disease, who responded to chemoimmunotherapy 2-5 months after completion of first-line therapy and who were assessed as having a high risk for an early progression with at least a partial response after four or more cycles of first-line chemoimmunotherapy, were eligible if they had high minimal residual disease levels or intermediate levels combined with an unmutated IGHV gene status or TP53 alterations...
September 12, 2017: Lancet Haematology
https://www.readbyqxmd.com/read/28916107/genetically-functionalized-ferritin-nanoparticles-with-a-high-affinity-protein-binder-for-immunoassay-and-imaging
#10
Jong-Won Kim, Woosung Heu, Sukyo Jeong, Hak-Sung Kim
Molecular detection of target molecules with high sensitivity and specificity is of great significance in bio and medical sciences. Here, we present genetically functionalized ferritin nanoparticles with a high-affinity protein binder, and their utility as a signal generator in a variety of immunoassays and imaging. As a high-affinity protein binder, human IgG-specific repebody, which is composed of LRR (Leucine-rich repeat) modules, was used. The repebody was genetically fused to the N-terminal heavy-chain ferritin, and the resulting subunits were self-assembled to the repebody-ferritin nanoparticles composed of 24 subunits...
October 2, 2017: Analytica Chimica Acta
https://www.readbyqxmd.com/read/28914984/hypercalcemic-disorders-in-children
#11
REVIEW
Victoria J Stokes, Morten F Nielsen, Fadil M Hannan, Rajesh V Thakker
Hypercalcemia is defined as a serum calcium concentration that is greater than 2 standard deviations above the normal mean, which in children may vary with age and sex, reflecting changes in the normal physiology at each developmental stage. Hypercalcemic disorders in children may present with hypotonia, poor feeding, vomiting, constipation, abdominal pain, lethargy, polyuria, dehydration, failure to thrive and seizures. In severe cases renal failure, pancreatitis and reduced consciousness may also occur and older children and adolescents may present with psychiatric symptoms...
September 15, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28914273/patterns-and-appropriateness-of-thrombophilia-testing-in-an-academic-medical-center
#12
Nicholas Cox, Stacy A Johnson, Sara Vazquez, Ryan P Fleming, Matthew T Rondina, David Kaplan, Stephanie Chauv, Gabriel V Fontaine, Scott M Stevens, Scott Woller, Daniel M Witt
BACKGROUND: Clinical guidelines recommend against routine use of thrombophilia testing in patients with acute thromboembolism. Thrombophilia testing rarely changes acute management of a thrombotic event. OBJECTIVE: To determine appropriateness of thrombophilia testing in a teaching hospital. DESIGN: Retrospective cohort study. SETTING: One academic medical center in Utah. PARTICIPANTS: All patients who received thrombophilia testing between July 1, 2014, and December 31, 2014...
September 2017: Journal of Hospital Medicine: An Official Publication of the Society of Hospital Medicine
https://www.readbyqxmd.com/read/28914268/impact-of-hipaa-s-minimum-necessary-standard-on-genomic-data-sharing
#13
Barbara J Evans, Gail P Jarvik
This article provides a brief introduction to the Health Insurance Portability and Accountability Act of 1996 (HIPAA) Privacy Rule's minimum necessary standard, which applies to sharing of genomic data, particularly clinical data, following 2013 Privacy Rule revisions. This research used the Thomson Reuters Westlaw database and law library resources in its legal analysis of the HIPAA privacy tiers and the impact of the minimum necessary standard on genomic data sharing. We considered relevant example cases of genomic data-sharing needs...
September 14, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28914266/medical-genetics-and-genomics-education-and-its-impact-on-genomic-literacy-of-the-clinical-workforce
#14
Katherine Hyland, Shoumita Dasgupta
No abstract text is available yet for this article.
September 14, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28913623/updated-strategies-for-the-management-pathogenesis-and-molecular-genetics-of-different-forms-of-ichthyosis-syndromes-with-prominent-hair-abnormalities
#15
REVIEW
Madiha Rasheed, Shaheen Shahzad, Afifa Zaeem, Imran Afzal, Asma Gul, Sumbal Khalid
Syndromic ichthyosis is rare inherited disorders of cornification with varied disease complications. This disorder appears in seventeen subtypes associated with severe systematic manifestations along with medical, cosmetic and social problems. Syndromic ichthyosis with prominent hair abnormalities covers five major subtypes: Netherton syndrome, trichothiodystrophy, ichthyosis hypotrichosis syndrome, ichthyosis hypotrichosis sclerosing cholangitis and ichthyosis follicularis atrichia photophobia syndrome. These syndromes mostly prevail in high consanguinity states, with distinctive clinical features...
September 14, 2017: Archives of Dermatological Research
https://www.readbyqxmd.com/read/28912182/hypertrophic-obstructive-cardiomyopathy-surgical-myectomy-and-septal-ablation
#16
REVIEW
Rick A Nishimura, Hubert Seggewiss, Hartzell V Schaff
Hypertrophic cardiomyopathy is a genetic disorder characterized by marked hypertrophy of the myocardium. It is frequently accompanied by dynamic left ventricular outflow tract obstruction and symptoms of dyspnea, angina, and syncope. The initial therapy for symptomatic patients with obstruction is medical therapy with β-blockers and calcium antagonists. However, there remain a subset of patients who have continued severe symptoms, which are unresponsive to medical therapy. These patients can be treated with septal reduction therapy, either surgical septal myectomy or alcohol septal ablation...
September 15, 2017: Circulation Research
https://www.readbyqxmd.com/read/28911965/physiological-roles-of-cns-muscarinic-receptors-gained-from-knockout-mice
#17
REVIEW
Morgane Thomsen, Gunnar Sørensen, Ditte Dencker
Because the five muscarinic acetylcholine receptor subtypes have overlapping distributions in many CNS tissues, and because ligands with a high degree of selectivity for a given subtype long remained elusive, it has been difficult to determine the physiological functions of each receptor. Genetically engineered knockout mice, in which one or more muscarinic acetylcholine receptor subtype has been inactivated, have been instrumental in identifying muscarinic receptor functions in the CNS, at the neuronal, circuit, and behavioral level...
September 11, 2017: Neuropharmacology
https://www.readbyqxmd.com/read/28911857/new-mouse-model-for-inducing-and-evaluating-unilateral-vestibular-deafferentation-syndrome
#18
R Cassel, P Bordiga, D Pericat, C Hautefort, B Tighilet, C Chabbert
BACKGROUND: Unilateral vestibular deafferentation syndrome (uVDS) holds a particular place in the vestibular pathology domain. Due to its suddenness, the violence of its symptoms that often result in emergency hospitalization, and its associated original neurophysiological properties, this syndrome is a major source of questioning for the otoneurology community. Also, its putative pathogenic causes remain to be determined. There is currently a strong medical need for the development of targeted and effective countermeasures to improve the therapeutic management of uVDS...
September 11, 2017: Journal of Neuroscience Methods
https://www.readbyqxmd.com/read/28910524/cover-image-volume-175c-number-3-september-2017
#19
(no author information available yet)
The cover image, by Gene S. Fisch, is based on the Introduction Introduction to Behavioral Phenotypes In Medical Genetics, DOI: 10.1002/ajmg.c.31573.
September 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28910158/interaction-between-rare-variants-in-notch1-and-betel-quid-chewing-in-oral-squamous-cell-carcinoma
#20
Chia-Min Chung, Chien-Hung Lee, Mu-Kuan Chen, Ming-Hsui Tsai, Ying-Chin Ko
BACKGROUND: In this study, we investigated rare variants of the NOTCH1 gene located near somatic mutations as surrogate markers, as well as the relationship of these rare variants with betel quid (BQ) chewing and the occurrence of oral squamous cell carcinoma (OSCC). MATERIALS AND METHODS: A total of 410 patients diagnosed with OSCC and 282 unrelated, healthy subjects without cancer were recruited from two medical centers in Taiwan. Odds ratios (OR) and 95% confidence intervals (CI) were assessed by logistic regression...
September 14, 2017: Genetic Testing and Molecular Biomarkers
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