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https://www.readbyqxmd.com/read/29792847/the-polymorphisms-of-atoh-7-et-1-and-ace-in-non-arteritic-anterior-ischemic-optic-neuropathy
#1
Ting Chen, Jin Ma, Guangliang Shan, Yong Zhong
Non-arteritic anterior ischemic optic neuropathy (NAION) is a common cause of acute optic neuropathy in the elderly. The role of the genetic polymorphisms of Atonal Homolog 7 (ATOH7), Endothelin-1 (ET-1) and Angiotensin Converting Enzyme (ACE) in NAION and the combined effects of the gene-gene and gene-medical comorbidities on NAION were not clear. We conducted a perspective, case-control study. 71 NAION patients and 142 age and sex-matched healthy controls were enrolled. Single nucleotide polymorphisms of ATOH7 (rs1900004), ET-1 (rs5370) and ACE (rs1799752) were identified by polymerase chain reaction (PCR) method and all PCR products were screened with Sanger sequencing...
May 21, 2018: Experimental Eye Research
https://www.readbyqxmd.com/read/29792339/pulmonary-hypertension-in-congenital-heart-disease
#2
Emma Pascall, Robert Mr Tulloh
Pulmonary hypertension is defined as a mean pulmonary arterial pressure ≥25 mmHg. We focus on its relevance in congenital heart disease, reviewing pathophysiology, diagnosis and management. Pulmonary hypertension is a relatively common complication of congenital heart disease, with adult prevalence between 5 and 10%. A multifactorial cause is recognized, relating to the size and nature of cardiac defect as well as environmental and genetic factors. More complex disease is increasingly recognized rather than pure Eisenmenger complex...
May 24, 2018: Future Cardiology
https://www.readbyqxmd.com/read/29792293/recruitment-and-participation-of-recreational-runners-in-a-large-epidemiological-and-genetic-research-study-retrospective-data-analysis
#3
Silvia Manzanero, Maria Kozlovskaia, Nicole Vlahovich, David C Hughes
BACKGROUND: With the increasing capacity for remote collection of both data and samples for medical research, a thorough assessment is needed to determine the association of population characteristics and recruitment methodologies with response rates. OBJECTIVE: The aim of this research was to assess population representativeness in a two-stage study of health and injury in recreational runners, which consisted of an epidemiological arm and genetic analysis. METHODS: The cost and success of various classical and internet-based methods were analyzed, and demographic representativeness was assessed for recruitment to the epidemiological survey, reported willingness to participate in the genetic arm of the study, actual participation, sample return, and approval for biobank storage...
May 23, 2018: JMIR Research Protocols
https://www.readbyqxmd.com/read/29791621/speech-language-pathology-aspects-in-a-pediatric-case-of-head-and-neck-arthrogryposis
#4
Jennifer Alvares Trindade, Jordana da Silva Freitas, Liliane Menzen, Carolina Laux, Lisiane de Rosa Barbosa, Maria Cristina de Almeida Freitas Cardoso
Arthrogryposis is a rare, multiple, congenital syndrome of non-progressive nature characterized by a series of genetic malformations, as well as stiffness and joint contractures. This is a clinical case study whose objective is to describe speech-language pathology disorders through the evaluation process in a case of arthrogryposis in Pediatrics. The medical records of a patient were analyzed from birth. A complete clinical evaluation of pediatric dysphagia was performed, establishing a diagnosis of severe oropharyngeal dysphagia evidenced by functional and structural impairments...
2018: CoDAS
https://www.readbyqxmd.com/read/29791243/amcp-partnership-forum-managing-care-in-the-wave-of-precision-medicine
#5
(no author information available yet)
Precision medicine, the customization of health care to an individual's genetic profile while accounting for biomarkers and lifestyle, has increasingly been adopted by health care stakeholders to guide the development of treatment options, improve treatment decision making, provide more patient-centered care, and better inform coverage and reimbursement decisions. Despite these benefits, key challenges prevent its broader use and adoption. On December 7-8, 2017, the Academy of Managed Care Pharmacy convened a group of stakeholders to discuss these challenges and provide recommendations to facilitate broader adoption and use of precision medicine across health care settings...
May 23, 2018: Journal of Managed Care & Specialty Pharmacy
https://www.readbyqxmd.com/read/29791184/expert-exchange-workgroup-on-children-aged-5-and-younger-with-severe-obesity-a-narrative-review-of-medical-and-genetic-risk-factors
#6
Nazrat Mirza, Thao-Ly Phan, June Tester, Angela Fals, Cristina Fernandez, George Datto, Elizabeth Estrada, Ihuoma Eneli
Severe obesity defined as an age- and gender-specific body mass index ≥120% of the 95th percentile in children younger than 5 years is well recognized as a significant challenge for prevention and treatment. This article provides an overview of the prevalence, classification of obesity severity, patterns of weight gain trajectory, medical and genetic risk factors, and comorbid disorders among young children with an emphasis on severe obesity. Studies suggest rapid weight gain trajectory in infancy, maternal smoking, maternal gestational diabetes, and genetic conditions are associated with an increased risk for severe obesity in early childhood...
May 23, 2018: Childhood Obesity
https://www.readbyqxmd.com/read/29790872/genomic-sequencing-identifies-secondary-findings-in-a-cohort-of-parent-study-participants
#7
Michelle L Thompson, Candice R Finnila, Kevin M Bowling, Kyle B Brothers, Matthew B Neu, Michelle D Amaral, Susan M Hiatt, Kelly M East, David E Gray, James M J Lawlor, Whitley V Kelley, Edward J Lose, Carla A Rich, Shirley Simmons, Shawn E Levy, Richard M Myers, Gregory S Barsh, E Martina Bebin, Gregory M Cooper
PurposeClinically relevant secondary variants were identified in parents enrolled with a child with developmental delay and intellectual disability.MethodsExome/genome sequencing and analysis of 789 "unaffected" parents was performed.ResultsPathogenic/likely pathogenic variants were identified in 21 genes within 25 individuals (3.2%), with 11 (1.4%) participants harboring variation in a gene defined as clinically actionable by the American College of Medical Genetics and Genomics. These 25 individuals self-reported either relevant clinical diagnoses (5); relevant family history or symptoms (13); or no relevant family history, symptoms, or clinical diagnoses (7)...
April 12, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29789557/measuring-coverage-and-accuracy-of-whole-exome-sequencing-in-clinical-context
#8
Sek Won Kong, In-Hee Lee, Xuanshi Liu, Joel N Hirschhorn, Kenneth D Mandl
PurposeTo evaluate the coverage and accuracy of whole-exome sequencing (WES) across vendors.MethodsBlood samples from three trios underwent WES at three vendors. Relative performance of the three WES services was measured for breadth and depth of coverage. The false-negative rates (FNRs) were estimated using the segregation pattern within each trio.ResultsMean depth of coverage for all genes was 189.0, 124.9, and 38.3 for the three vendor services. Fifty-five of the American College of Medical Genetics and Genomics 56 genes, but only 56 of 63 pharmacogenes, were 100% covered at 10 × in at least one of the nine individuals for all vendors; however, there was substantial interindividual variability...
April 12, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29789444/short-term-seizure-outcomes-in-childhood-epilepsy
#9
Kari Modalsli Aaberg, Inger Johanne Bakken, Morten I Lossius, Camilla Lund Søraas, Kamath K Tallur, Camilla Stoltenberg, Richard Chin, Pål Surén
BACKGROUND AND OBJECTIVES: Seizure freedom is the optimal response to antiepileptic treatment. In previous studies, it has been shown that between 61% and 71% of children with epilepsy achieve seizure freedom, whereas 7% to 20% have drug-resistant epilepsy. The definition of drug resistance has not been consistent across studies, and there is a lack of contemporary population-based data. We used data from a large nationwide child cohort to provide such information, implementing the current standard definition of drug resistance...
May 22, 2018: Pediatrics
https://www.readbyqxmd.com/read/29786587/legal-protection-of-public-health-through-control-over-genetically-modified-food
#10
Nataliya Gutorova, Olena Batyhina, Maryna Trotska
OBJECTIVE: Introduction: Science is constantly being developed which leads to both positive and negative changes in public health and the environment. One of the results of scientific progress is introduction of food based on genetically modified organisms whose effects on human health, to date, remain scantily studied and are ambiguous. The aim: to determine how human health can be influenced by food production based on genetically modified organisms. PATIENTS AND METHODS: Materials and methods: international acts, data of international organizations and conclusions of scientists have been examined and used in the study...
2018: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/29785153/prevalence-of-deleterious-mutations-among-patients-with-breast-cancer-referred-for-multigene-panel-testing-in-a-romanian-population
#11
Iulian Gabriel Goidescu, Gabriela Caracostea, Dan Tudor Eniu, Florin Vasile Stamatian
Aim: Multigene panel testing for Hereditary Breast and Ovarian Cancer (HBOC) using next generation sequencing is becoming more common in medical care.We report our experience regarding deleterious mutations of high and moderate-risk breast cancer genes (BRCA1/2, TP53, STK11, CDH1, PTEN, PALB2, CHEK2, ATM), as well as more recently identified cancer genes, many of which have increased risk but less well-defined penetrance. Methods: Genetic testing was performed in 130 consecutive cases with breast cancer referred to our clinic for surgical evaluation and who met the 2016 National Comprehensive Cancer Network (NCCN) criteria for genetic testing...
2018: Clujul Medical (1957)
https://www.readbyqxmd.com/read/29784583/medical-techniques-of-fertility-preservation-in-the-male-and-female
#12
C Vinolas, J Raad, C Sonigo, C Sifer, N Sermondade, M Grynberg
Therapeutic advances in many medical fields have led to the need to consider patient quality of life after curative medico-surgical treatments for malignancy. Thus, it has become a major issue for young patients to preserve the ability to become "genetic" parents, with their own gametes. While the preservation of male fertility has been an established technique for more than 30 years, it is only in the last decade that progress in cryopreservation techniques has allowed surgeons to offer successful oocyte and ovarian tissue cryobanking...
May 18, 2018: Journal of Visceral Surgery
https://www.readbyqxmd.com/read/29783250/-signifuing-resident-of-the-city-poltava-at-the-expense-of-signs-stroke-risk-factors-and-urgent-measures-according-to-medico-social-survey
#13
Anzhelina M Kryvchun, Nataliia V Lytvynenko, Viktoriia A Pinchuk, Galyna Ya Sylenko, Viktoriia M Gladka
OBJECTIVE: Introduction: The problem of cerebrovascular diseases and their most severe form - cerebral stroke is one of the most pressing problems in modern medicine due to the high level of lethality, significant disability of patients. The aim: To assess and increase the sign of residents of the city Poltava at the expense of signs of stroke, its risk factors for emergence and emergency measures for stroke. PATIENTS AND METHODS: Materials and methods: During the annual social event dedicated to the World Stroke Day, on October 27, 2017, a survey of 981 people in Poltava city was conducted by volunteer students and staff of the Department of Nervous Diseases with Neurosurgery and Medical Genetics of "Ukrainian Medical Stomatological Academy"...
2018: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/29782345/precision-surgery-for-obesity
#14
Zhiyong Dong, Sheikh Mohammed Shariful Islam, Enan Simms-Walker, Cunchuan Wang
Precision medicine is targeted towards improving the effectiveness of treatment, reducing the side effects of drugs and reducing medical costs. The application of precision surgery for obesity is a new concept that involves 2 stages: the first stage is to attain a precise obesity surgery, and the second stage is to achieve individualized obese gene therapy. In this article, we discuss the value of precision surgery for obesity, its stages and its future application to improve obesity surgery. Due to recent advancements in medical technologies, genetics, surgical and clinical research; precision surgery for obesity will lead the future of obesity surgery...
May 16, 2018: American Journal of Therapeutics
https://www.readbyqxmd.com/read/29782195/acute-pancreatitis-secondary-to-oral-contraceptive-induced-hypertriglyceridemia-a-case-report
#15
Matheo Augusto Morandi Stumpf, Ana Claudia Garabeli Cavalli Kluthcovsky, Jefferson Matsuiti Okamoto, Gianna Carla Alberti Schrut, Patricia de Oliveira Cajoeiro, Ana Paula Marte Chacra, Ricardo Bizeli
Hypertriglyceridemia is the third most common cause of acute pancreatitis. Among the causes that lead to secondary hypertriglyceridemia, the use of contraceptive agents is the main reason to be assessed in young women. We report a case of a 31-year-old woman who had suffered two acute pancreatitis episodes secondary to hypertriglyceridemia. In the investigation, the previous medical team indicated a genetic screening before ruling out all secondary causes. LPL, apo CII and apo AV genes were negative for mutations...
May 21, 2018: Gynecological Endocrinology
https://www.readbyqxmd.com/read/29781468/previvor-an-oncology-nurse-s-story-of-cancer-risk-reduction-through-genetic-testing
#16
Joanne Kelly
My mother was diagnosed with triple-negative breast cancer in 1998 at age 48. Her younger sister has been diagnosed with breast cancer at age 33 but ultimately died of ovarian cancer at age 47. Her mother died of ovarian cancer at age 47. I knew my fate. Meanwhile, as the medical world around me kept turning, the medical-surgical floor on which I worked became an oncology floor. This was not part of my plan.
June 1, 2018: Clinical Journal of Oncology Nursing
https://www.readbyqxmd.com/read/29781421/molecular-phylogeny-based-on-six-nuclear-genes-suggests-that-echinococcus-granulosus-sensu-lato-genotypes-g6-g7-and-g8-g10-can-be-regarded-as-two-distinct-species
#17
Teivi Laurimäe, Liina Kinkar, Epp Moks, Thomas Romig, Rihab A Omer, Adriano Casulli, Gérald Umhang, Guna Bagrade, Malik Irshadullah, Mitra Sharbatkhori, Hossein Mirhendi, Francisco Ponce-Gordo, Silvia V Soriano, Antonio Varcasia, Mohammad Rostami-Nejad, Vanessa Andresiuk, Urmas Saarma
Tapeworms of the species complex of Echinococcus granulosus sensu lato (s. l.) are the cause of a severe zoonotic disease - cystic echinococcosis, which is listed among the most severe parasitic diseases in humans and is prioritized by the World Health Organization. A stable taxonomy of E. granulosus s. l. is essential to the medical and veterinary communities for accurate and effective communication of the role of different species in this complex on human and animal health. E. granulosus s. l. displays high genetic diversity and has been divided into different species and genotypes...
May 21, 2018: Parasitology
https://www.readbyqxmd.com/read/29779949/disease-heritability-inferred-from-familial-relationships-reported-in-medical-records
#18
Fernanda C G Polubriaginof, Rami Vanguri, Kayla Quinnies, Gillian M Belbin, Alexandre Yahi, Hojjat Salmasian, Tal Lorberbaum, Victor Nwankwo, Li Li, Mark M Shervey, Patricia Glowe, Iuliana Ionita-Laza, Mary Simmerling, George Hripcsak, Suzanne Bakken, David Goldstein, Krzysztof Kiryluk, Eimear E Kenny, Joel Dudley, David K Vawdrey, Nicholas P Tatonetti
Heritability is essential for understanding the biological causes of disease but requires laborious patient recruitment and phenotype ascertainment. Electronic health records (EHRs) passively capture a wide range of clinically relevant data and provide a resource for studying the heritability of traits that are not typically accessible. EHRs contain next-of-kin information collected via patient emergency contact forms, but until now, these data have gone unused in research. We mined emergency contact data at three academic medical centers and identified 7...
May 15, 2018: Cell
https://www.readbyqxmd.com/read/29779145/comprehensive-genetic-testing-for-female-and-male-infertility-using-next-generation-sequencing
#19
Bonny Patel, Sasha Parets, Matthew Akana, Gregory Kellogg, Michael Jansen, Chihyu Chang, Ying Cai, Rebecca Fox, Mohammad Niknazar, Roman Shraga, Colby Hunter, Andrew Pollock, Robert Wisotzkey, Malgorzata Jaremko, Alex Bisignano, Oscar Puig
PURPOSE: To develop a comprehensive genetic test for female and male infertility in support of medical decisions during assisted reproductive technology (ART) protocols. METHODS: We developed a next-generation sequencing (NGS) gene panel consisting of 87 genes including promoters, 5' and 3' untranslated regions, exons, and selected introns. In addition, sex chromosome aneuploidies and Y chromosome microdeletions were analyzed concomitantly using the same panel. RESULTS: The NGS panel was analytically validated by retrospective analysis of 118 genomic DNA samples with known variants in loci representative of female and male infertility...
May 19, 2018: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/29779126/animal-models-of-chronic-migraine
#20
REVIEW
Tse-Ming Chou, Shih-Pin Chen
PURPOSE OF REVIEW: Chronic migraine (CM) is a recalcitrant subtype of migraine which causes high degrees of disability, poor treatment responses, and frequent recurrences in sufferers. However, the pathophysiological mechanisms underlying the development and chronification of migraine attacks remain incompletely understood. A validated animal model could help to decipher the pathogenic mechanism of the disease, facilitating the development of possible therapeutic strategies for CM. In this review, we aimed to summarize current animal models of CM and discuss the validity of these models...
May 19, 2018: Current Pain and Headache Reports
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