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https://www.readbyqxmd.com/read/28102862/mutation-spectrum-in-the-abcc6-gene-and-genotype-phenotype-correlations-in-a-french-cohort-with-pseudoxanthoma-elasticum
#1
Anne Legrand, Laurence Cornez, Wafa Samkari, Jean-Michael Mazzella, Annabelle Venisse, Valérie Boccio, Karine Auribault, Boris Keren, Karelle Benistan, Dominique P Germain, Michael Frank, Xavier Jeunemaitre, Juliette Albuisson
PURPOSE: Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder caused by variants in the ABCC6 gene. Ectopic mineralization of connective tissues leads to skin, eye, and cardiovascular manifestations with considerable phenotypic variability of unknown cause. We aimed to identify genotype-phenotype correlations in PXE. METHODS: A molecular analysis was performed on 458 French PXE probands clinically evaluated using the Phenodex score (PS). Variant topographic analysis and genotype-phenotype correlation analysis were performed according to the number and type of identified variants...
January 19, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28102546/ataluren-and-similar-compounds-specific-therapies-for-premature-termination-codon-class-i-mutations-for-cystic-fibrosis
#2
REVIEW
Aisha A Aslam, Colin Higgins, Ian P Sinha, Kevin W Southern
BACKGROUND: Cystic fibrosis is a common life-shortening genetic disorder in the Caucasian population (less common in other ethnic groups) caused by the mutation of a single gene that codes for the production of the cystic fibrosis transmembrane conductance regulator protein. This protein coordinates the transport of salt (and bicarbonate) across cell surfaces and the mutation most notably affects the airways. In the lungs of people with cystic fibrosis, defective protein results in a dehydrated surface liquid and compromised mucociliary clearance...
January 19, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28102042/identification-of-a-10-10-matched-donor-for-patients-with-an-uncommon-haplotype-is-unlikely
#3
J A Olson, Y Gibbens, K Tram, J Kempenich, J Novakovich, K Buck, J Dehn
BACKGROUND: Despite over 6 million subjects contributing to the National Marrow Donor Program human leukocyte antigen (HLA) haplotype frequency reference data (HFD), haplotypes cannot be predicted from the HLA assignments of some patients searching for an unrelated donor (URD) in the Be The Match Registry®. We aimed to determine the incidence of these patient searches and whether haplotypes lacking from the HFD can be found among the low-resolution typed URD pool. MATERIALS AND METHODS: New NMDP searches with uncommon patient haplotypes (UPH), defined as a lack of haplotype pairs in any single ethnic group in the HFD based upon HLA-A˜C˜B˜DRB1˜DQB1, were identified...
February 2017: HLA
https://www.readbyqxmd.com/read/28101761/the-sg13s114-polymorphism-of-the-alox5ap-gene-is-associated-with-ischemic-stroke-in-europeans-a-meta-analysis-of-8062-subjects
#4
Zhongjun Chen, Jinyu Zheng, Wenguang Liu, Kun Yang, Kai Li, Baosheng Huang, Ronglan Zhu, Xiaocheng Lu, Lixin Li
The association between ALOX5AP SG13S114 polymorphism and ischemic stroke (IS) susceptibility has extensively been investigated, especially in white populations; however, the results were inconclusive. Here, we perform a meta-analysis to clarify the effect of SG13S114 variant on the IS risk in Europeans. The Web of Science, PubMed, EMBASE, and Medline were searched up to August 1st, 2016. Data were extracted and the odd ratios (ORs) and 95% confidence intervals (CIs) were calculated by a fixed-effects or random-effects model...
January 18, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28101643/polymorphisms-in-genes-encoding-mir-155-and-mir-146a-are-associated-with-protection-to-type-1-diabetes-mellitus
#5
Taís S Assmann, Guilherme C K Duarte, Letícia A Brondani, Pedro H O de Freitas, Égina M Martins, Luís H Canani, Daisy Crispim
AIMS: Type 1 diabetes mellitus (T1DM) is characterized by severe autoimmune destruction of pancreatic beta-cells. The triggering of autoimmunity against beta-cells is probably caused by a combination of environmental and genetic risk factors. Even though much is known about the genetic of T1DM, more information is needed to completely unravel this tangled disease. MicroRNAs (miRNAs) are a class of small noncoding RNAs molecules that negatively regulate gene expression by inducing target mRNA cleavage or by inhibiting protein translation...
January 19, 2017: Acta Diabetologica
https://www.readbyqxmd.com/read/28101480/spectrum-of-cutaneous-adverse-reactions-to-levetiracetam-and-human-leukocyte-antigen-typing-in-north-indian-patients
#6
Bhargavi Ramanujam, Kavish Ihtisham, Gurvinder Kaur, Shivani Srivastava, Narinder Kumar Mehra, Neena Khanna, Mahip Singh, Manjari Tripathi
BACKGROUND AND PURPOSE: Aromatic antiepileptic drugs are frequently implicated for cutaneous adverse drug reactions (cADRs); there are case-reports of even severe reactions like drug reaction eosinophilia and systemic symptoms (DRESS) and Stevens Johnson syndrome (SJS)-toxic epidermal necrolysis with Levetiracetam (LEV). Certain human leukocyte antigen (HLA)-alleles have strong association with cADRs due to specific drugs - HLA-B*15:02 and HLA-A*31:01 in Carbamazepine (CBZ)-related SJS in Han-Chinese and European populations, respectively...
December 2016: Journal of Epilepsy Research
https://www.readbyqxmd.com/read/28101320/variation-in-dose-and-plasma-level-of-lamotrigine-in-patients-discharged-from-a-mental-health-trust
#7
Petrina Douglas-Hall, Olubanke Dzahini, Fiona Gaughran, Ahmed Bile, David Taylor
BACKGROUND: The objectives of this study were to investigate the dose of lamotrigine when prescribed with an enzyme inhibitor or enzyme inducer in patients discharged from a mental health trust and to determine the corresponding lamotrigine plasma concentrations and the factors that may affect these. METHODS: All patients discharged on lamotrigine between October 2007 and September 2012 were identified using the pharmacy dispensing database. We recorded demographic details, lamotrigine dose and plasma levels and coprescribed medication...
January 2017: Therapeutic Advances in Psychopharmacology
https://www.readbyqxmd.com/read/28100913/genome-wide-association-study-using-the-ethnicity-specific-japonica-array-identification-of-new-susceptibility-loci-for-cold-medicine-related-stevens-johnson-syndrome-with-severe-ocular-complications
#8
Mayumi Ueta, Hiromi Sawai, Ryosei Shingaki, Yusuke Kawai, Chie Sotozono, Kaname Kojima, Kyung-Chul Yoon, Mee Kum Kim, Kyoung Yul Seo, Choun-Ki Joo, Masao Nagasaki, Shigeru Kinoshita, Katsushi Tokunaga
A genome-wide association study (GWAS) for cold medicine-related Stevens-Johnson syndrome (CM-SJS) with severe ocular complications (SOC) was performed in a Japanese population. A recently developed ethnicity-specific array with genome-wide imputation that was based on the whole-genome sequences of 1070 unrelated Japanese individuals was used. Validation analysis with additional samples from Japanese individuals and replication analysis using samples from Korean individuals identified two new susceptibility loci on chromosomes 15 and 16...
January 19, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28100373/-epidemiological-characteristics-of-children-aged-1-4-years-without-timely-birth-dose-of-hepatitis-b-vaccine-vaccination-in-china-2014
#9
F Z Wang, G M Zhang, L P Shen, J H Liu, H Zheng, F Wang, N Miao, X J Sun, X F Liang, F Q Cui
Objective: To evaluate the epidemiological characteristics of the children aged 1-4 years without timely birth dose of hepatitis B vaccine (HepB(1)) vaccination. Methods: Based on the data from 160 disease surveillance points in 31 provinces of China, two-stage cluster random sampling was used to select the target population aged 1-4 years. A standard questionnaire was used to collect the information about the birth date, gender, ethnic group, place of birth, HepB immunization history of the children selected...
January 10, 2017: Zhonghua Liu Xing Bing Xue za Zhi, Zhonghua Liuxingbingxue Zazhi
https://www.readbyqxmd.com/read/28100344/-recurrent-syncope-related-to-catecholaminergic-polymorphic-ventricular-tachycardia-due-to-de-novo-ryr2-r2401h-mutation
#10
X Liu, J X Li, J Z Hu, Y Shen, R Wan, Q M Xiong, Q Q Zhou, J Y Xie, J J Jin, X Yan, J H Yu, K Hong
Objective: To explore the clinical and molecular genetic features of a Chinese patient with catecholaminergic polymorphic ventricular tachycardia (CPVT). Methods: Clinical data including resting electrocardiography, echocardiography and treadmill exercise testing of a patient with CPVT admitted to our department in March 2013 were analyzed, and the peripheral venous blood samples of the patient and his family members and 400 ethnicity-matched healthy controls were obtained. All exons and exon-intron boundaries of the six CPVT-related genes including RYR2, CASQ2, TRDN, CALM1, KCNJ2 and ANKB were sequenced to detect the variants related to CPVT...
January 25, 2017: Zhonghua Xin Xue Guan Bing za Zhi
https://www.readbyqxmd.com/read/28100272/bibliometric-analysis-of-literature-on-toxic-epidermal-necrolysis-and-stevens-johnson-syndrome-1940-2015
#11
Waleed M Sweileh
BACKGROUND: Stevens Johnson Syndrome (SJS) and toxic epidermal necrolysis (TEN) are rare but fatal adverse skin reactions that affect all age groups. In order to better understand literature on this topic, we conducted a bibliometric study using Scopus database to shed light on number and growth of publications, most active countries, institutions, journals and authors involved in publishing articles in this field, citation analysis, top cited articles, international collaboration, role of medications and genetic association...
January 18, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28100181/gestational-diabetes-mellitus-and-retinal-microvasculature
#12
Ling-Jun Li, Michael Kramer, Robyn J Tapp, Ryan E K Man, Ngee Lek, Shirong Cai, Fabian Yap, Peter Gluckman, Kok Hian Tan, Yap Seng Chong, Jia Yu Koh, Seang Mei Saw, Yin Bun Cheung, Tien Yin Wong
BACKGROUND: Small-vessel dysfunction may be an important consequence of chronic hyperglycemia. We examined the association between gestational diabetes mellitus (GDM), a state of transient hyperglycemia during pregnancy, and retinal microvascular changes in pregnant women at 26-28 weeks of pregnancy. METHODS: A total of 1136 pregnant women with singleton pregnancies were recruited during their first trimester at two major Singapore maternity hospitals in an on-going birth cohort study...
January 18, 2017: BMC Ophthalmology
https://www.readbyqxmd.com/read/28100067/race-based-experiences-of-ethnic-minority-health-professionals-arab-physicians-and-nurses-in-israeli-public-healthcare-organizations
#13
Yael Keshet, Ariela Popper-Giveon
: Increasing workforce diversity was found to contribute to the narrowing of disparities in health. However, racism toward ethnic minority health professionals has not been adequately researched. In Israel, public healthcare organizations that serve a mixed Jewish-Arab population employ Arab minority healthcare professionals. Instances of prejudice and manifestations of racism toward them, which frequently surface in public discussion and the media, have unfortunately gained little scholarly attention...
January 19, 2017: Ethnicity & Health
https://www.readbyqxmd.com/read/28099953/social-networks-among-the-older-chinese-population-in-the-usa-findings-from-the-pine-study
#14
XinQi Dong, E-Shien Chang
BACKGROUND: Social network research has become central to studies of health and aging. Its results may yield public health insights that are actionable and improve the quality of life of older adults. However, little is known about the social networks of older immigrant adults, whose social relationships often develop in the context of migration, compounded by cultural and linguistic barriers. OBJECTIVES: This report aims to describe the structure, composition, and emotional components of social networks in the Chinese aging population of the USA, and to explore ways in which their social networks may be critical to their health decision-making...
January 19, 2017: Gerontology
https://www.readbyqxmd.com/read/28099948/mdm4-genetic-variants-and-risk-of-gastric-cancer-in-an-eastern-chinese-population
#15
Meng-Yun Wang, Ming Jia, Jing He, Fei Zhou, Li-Xin Qiu, Meng-Hong Sun, Ya-Jun Yang, Jiu-Cun Wang, Li Jin, Ya-Nong Wang, Qing-Yi Wei
MDM4 is a p53-interacting protein and plays an important role in carcinogenesis. In this study of 1,077 gastric cancer (GCa) cases and 1,173 matched cancer-free controls, we investigated associations between three tagging single nucleotide polymorphisms (SNPs) (rs11801299 G>A, rs1380576 C>G and rs10900598 G>T) in MDM4 and gastric cancer risk in an Eastern Chinese Population. In logistic regression analysis, a significantly decreased GCa risk was associated with the rs1380576 GG variant genotype (adjusted odds ratio [OR] =0...
January 14, 2017: Oncotarget
https://www.readbyqxmd.com/read/28099407/effects-of-functional-cyp2c8-cyp2c9-cyp3a5-and-abcb1-genetic-variants-on-the-pharmacokinetics-of-insulin-sensitizer-pioglitazone-in-chinese-han-individuals
#16
Sheng-Ju Yin, Hui-Min Qi, Xin Wang, Pu Zhang, Yuan Lu, Min-Ji Wei, Pu Li, Guang-Zhao Qi, Ya-Qing Lou, Chuang Lu, Guo-Liang Zhang
BACKGROUND AND OBJECTIVES: Pioglitazone is a thiazolidinedione antihyperglycemic drug with insulin-sensitizing properties. We investigated whether the variant genotypes of cytochrome P450 2C8 (CYP2C8), CYP2C9, CYP3A5 and transporter ABCB1 influence the pharmacokinetic phenotype of the substrate pioglitazone in Chinese individuals. PARTICIPANTS AND METHODS: Single-nucleotide polymorphisms were determined by the PCR-restriction fragment length polymorphism method in 244 (CYP2C8 and CYP2C9) healthy Chinese Han individuals...
January 17, 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28099358/the-gender-specific-association-of-rs334558-in-gsk3%C3%AE-with-major-depressive-disorder
#17
Sha Liu, Le Wang, Ning Sun, Chunxia Yang, Zhifen Liu, Xinrong Li, Xiaohua Cao, Yong Xu, Kerang Zhang
Major depressive disorder (MDD) is one of the most prevalent psychiatric illnesses with a heritability ranging from 40% to 50%. The single nucleotide polymorphism (SNP) rs334558 on the glycogen synthase kinase-3β (GSK3β) gene has been identified as a genetic risk loci associated with schizophrenia and bipolar disorder. However, results from replication studies examining the association between rs334558 and MDD remain inconsistent.In the present study, first, we conducted a meta-analysis of the association between rs334558 and MDD by combining 5 available case-control samples totaling 2311 cases and 2535 controls...
January 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28099117/casz1-loss-of-function-mutation-contributes-to-familial-dilated-cardiomyopathy
#18
Xing-Biao Qiu, Xin-Kai Qu, Ruo-Gu Li, Hua Liu, Ying-Jia Xu, Min Zhang, Hong-Yu Shi, Xu-Min Hou, Xu Liu, Fang Yuan, Yu-Min Sun, Jun Wang, Ri-Tai Huang, Song Xue, Yi-Qing Yang
BACKGROUND: The zinc finger transcription factor CASZ1 plays a key role in cardiac development and postnatal adaptation, and in mice, deletion of the CASZ1 gene leads to dilated cardiomyopathy (DCM). However, in humans whether genetically defective CASZ1 contributes to DCM remains unclear. METHODS: The coding exons and splicing junction sites of the CASZ1 gene were sequenced in 138 unrelated patients with idiopathic DCM. The available family members of the index patient harboring an identified CASZ1 mutation and 200 unrelated, ethnically matched healthy individuals used as controls were genotyped for CASZ1...
January 18, 2017: Clinical Chemistry and Laboratory Medicine: CCLM
https://www.readbyqxmd.com/read/28098149/characterising-private-and-shared-signatures-of-positive-selection-in-37-asian-populations
#19
Xuanyao Liu, Dongsheng Lu, Woei-Yuh Saw, Philip J Shaw, Pongsakorn Wangkumhang, Chumpol Ngamphiw, Suthat Fucharoen, Worachart Lert-Itthiporn, Kwanrutai Chin-Inmanu, Tran Nguyen Bich Chau, Katie Anders, Anuradhani Kasturiratne, H Janaka de Silva, Tomohiro Katsuya, Ryosuke Kimura, Toru Nabika, Takayoshi Ohkubo, Yasuharu Tabara, Fumihiko Takeuchi, Ken Yamamoto, Mitsuhiro Yokota, Dolikun Mamatyusupu, Wenjun Yang, Yeun-Jun Chung, Li Jin, Boon-Peng Hoh, Ananda R Wickremasinghe, RickTwee-Hee Ong, Chiea-Chuen Khor, Sarah J Dunstan, Cameron Simmons, Sissades Tongsima, Prapat Suriyaphol, Norihiro Kato, Shuhua Xu, Yik-Ying Teo
The Asian Diversity Project (ADP) assembled 37 cosmopolitan and ethnic minority populations in Asia that have been densely genotyped across over half a million markers to study patterns of genetic diversity and positive natural selection. We performed population structure analyses of the ADP populations and divided these populations into four major groups based on their genographic information. By applying a highly sensitive algorithm haploPS to locate genomic signatures of positive selection, 140 distinct genomic regions exhibiting evidence of positive selection in at least one population were identified...
January 18, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28097623/toward-a-functional-definition-of-ankyloglossia-validating-current-grading-scales-for-lingual-frenulum-length-and-tongue-mobility-in-1052-subjects
#20
Audrey Yoon, Soroush Zaghi, Rachel Weitzman, Sandy Ha, Clarice S Law, Christian Guilleminault, Stanley Y C Liu
PURPOSE: Alterations of the lingual frenulum may contribute to oromyofacial dysfunction, speech and swallowing impediments, underdevelopment of the maxillofacial skeleton, and even predispose to sleep breathing disorder. This study aims to assess the utility of existing instruments for evaluation of restricted tongue mobility, describe normal and abnormal ranges of tongue mobility, and provide evidence in support of a reliable and efficient measure of tongue mobility. METHODS: A prospective cohort study of 1052 consecutive patients was evaluated during a 3-month period...
January 17, 2017: Sleep & Breathing, Schlaf & Atmung
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