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https://www.readbyqxmd.com/read/29216896/what-will-it-take-pathways-time-and-funding-australian-medical-students-perspective-on-clinician-scientist-training
#1
Diann S Eley, Charmaine Jensen, Ranjeny Thomas, Helen Benham
BACKGROUND: Clinician-scientists are in decline worldwide. They represent a unique niche in medicine by bridging the gap between scientific discovery and patient care. A national, integrated approach to training clinician-scientists, typically programs that comprise a comprehensive MD-PhD pathway, are customary. Such a pathway is lacking in Australia. The objective was to gather perceptions from Australian medical students on factors they perceive would influence their decision to pursue clinician-scientist training...
December 8, 2017: BMC Medical Education
https://www.readbyqxmd.com/read/29215093/two-large-deletions-extending-beyond-either-end-of-the-rhd-gene-and-their-red-cell-phenotypes
#2
Kshitij Srivastava, David Alan Stiles, Franz Friedrich Wagner, Willy Albert Flegel
Only two partial deletions longer than 655 nucleotides had been reported for the RHD gene, constrained within the gene and causing DEL phenotypes. Using a combination of quantitative PCR and long-range PCR, we examined three distinct deletions affecting parts of the RHD gene in three blood donors. Their RHD nucleotide sequences and exact boundaries of the breakpoint regions were determined. DEL phenotypes were caused by a novel 18.4 kb deletion and a previously published 5.4 kb deletion of the RHD gene; a D-negative phenotype was caused by a novel 7...
November 16, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/29214630/a-del-phenotype-attributed-to-rhd-exon-9-sequence-deletion-slipped-strand-mispairing-and-blood-group-polymorphisms
#3
Genghis H Lopez, Robyn M Turner, Eunike C McGowan, Elizna M Schoeman, Stacy A Scott, Helen O'Brien, Glenda M Millard, Eileen V Roulis, Amanda J Allen, Yew-Wah Liew, Robert L Flower, Catherine A Hyland
BACKGROUND: The RhD blood group antigen is extremely polymorphic and the DEL phenotype represents one such class of polymorphisms. The DEL phenotype prevalent in East Asian populations arises from a synonymous substitution defined as RHD*1227A. However, initially, based on genomic and cDNA studies, the genetic basis for a DEL phenotype in Taiwan was attributed to a deletion of RHD Exon 9 that was never verified at the genomic level by any other independent group. Here we investigate the genetic basis for a Caucasian donor with a DEL partial D phenotype and compare the genomic findings to those initial molecular studies...
December 6, 2017: Transfusion
https://www.readbyqxmd.com/read/29213053/the-conserved-ancient-role-of-chordate-pias-as-a-multilevel-repressor-of-the-nf-%C3%AE%C2%BAb-pathway
#4
Ruihua Wang, Shengfeng Huang, Xianan Fu, Guangrui Huang, Xinyu Yan, Zirui Yue, Shangwu Chen, Yingqiu Li, Anlong Xu
In vertebrates, PIAS genes encode versatile cellular regulators, with functions extremely complex and redundant. Here we try to understand their functions from an evolutionary perspective. we evaluate the sequences, expression and molecular functions of amphioxus PIAS genes and compare them with their vertebrate counterparts. Phylogenetic analysis suggests a single PIAS gene in ancestral chordates, which has been duplicated into four families (PIAS1-4) in vertebrates by 2R-WGD but remained single in a basal chordate (amphioxus)...
December 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29203504/frequencies-and-ethnic-distribution-of-abo-and-rhd-blood-groups-in-china-a-population-based-cross-sectional-study
#5
Jue Liu, Shikun Zhang, Qiaomei Wang, Haiping Shen, Yiping Zhang, Min Liu
OBJECTIVES: ABO and RhD blood groups are key factors affecting blood transfusion safety. The distribution of ABO and RhD blood groups varies globally, but limited data exist for ethnic distributions of these blood groups in Asian populations. We aimed to evaluate the distribution of ABO and RhD blood groups among Chinese ethnic groups. DESIGN: A population-based cross-sectional study. SETTING: Data on ABO groups and ethnicities were obtained from the National Free Preconception Health Examination Project (NFPHEP) with participants from 220 counties of 31 provinces in China PARTICIPANTS: There were 3 832 034 participants aged 21-49 years who took part in the NFPHEP from January 2010 to December 2012 and were included in this study...
December 3, 2017: BMJ Open
https://www.readbyqxmd.com/read/29193119/evaluation-of-the-applicability-and-effectiveness-of-a-molecular-strategy-for-identifying-weak%C3%A2-d-and-del-phenotype-among-d-blood-donors-of-mixed-origin-exhibiting-high-frequency-of-rhd-%C3%AE
#6
Marcia Regina Dezan, Luis Giovani O Guardalini, Elaine Pessoa, Ingrid Helena Ribeiro, Valeria Brito Oliveira, Fabio Luz, Denise Rossite Novac, António Gallucci, Silvia Bonifácio, Francisco Gomes, José E Levi, Alexandre C Pereira, Jose E Krieger, Alfredo Mendrone-Junior, Vanderson Rocha, Carla Luana Dinardo
BACKGROUND: Molecular tests designed to detect the presence of active RHD gene among D- donors have been successfully applied in people of European ancestry, but not in admixed populations with a considerable frequency of RHD*Ψ. Our goal was to evaluate the performance of a molecular screening tool for identifying active RHD alleles among Brazilian blood donors classified as D- C+ and/or E+. STUDY DESIGN AND METHODS: Pools of five DNA samples of serologically D- C+ and/or E+ donors were checked by a RHD polymerase chain reaction (PCR) assay specific for RHD Intron 4 and Exon 7...
November 28, 2017: Transfusion
https://www.readbyqxmd.com/read/29193104/transfusion-strategy-for-weak-d-type-4-0-based-on-rhd-alleles-and-rh-haplotypes-in-tunisia
#7
Mouna Ouchari, Kshitij Srivastava, Houda Romdhane, Saloua Jemni Yacoub, Willy Albert Flegel
BACKGROUND: With more than 460 RHD alleles, this gene is the most complex and polymorphic among all blood group systems. The Tunisian population has the largest known prevalence of weak D Type 4.0 alleles, occurring in one of 105 RH haplotypes. We aimed to establish a rationale for the transfusion strategy of weak D Type 4.0 in Tunisia. STUDY DESIGN AND METHODS: Donors were randomly screened for the serologic weak D phenotype. The RHD coding sequence and parts of the introns were sequenced...
November 29, 2017: Transfusion
https://www.readbyqxmd.com/read/29188626/-polymorphism-of-rhd-gene-among-rhd-negative-and-d-variant-blood-donors-from-qingdao-region
#8
Bin Hu, Zhihui Feng, Yuli Zhu
OBJECTIVE: To study the molecular mechanism and polymorphism of D gene of RhD negative and D variants among voluntary blood donors from Qingdao region. METHODS: For 220 D-negative phenotype cases and 5 D variant cases confirmed by serological test, exons 1 to 10 of the RHD gene were detected by a PCR-SSP method. The samples which contain all or part of the exons were sequenced. RESULTS: Among the 220 cases, 166 (75.45%) had complete absence of the RHD gene, while 54 (24...
December 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29187184/rheumatic-heart-disease-infectious-disease-origin-chronic-care-approach
#9
REVIEW
Judith M Katzenellenbogen, Anna P Ralph, Rosemary Wyber, Jonathan R Carapetis
BACKGROUND: Rheumatic heart disease (RHD) is a chronic cardiac condition with an infectious aetiology, causing high disease burden in low-income settings. Affected individuals are young and associated morbidity is high. However, RHD is relatively neglected due to the populations involved and its lower incidence relative to other heart diseases. METHODS AND RESULTS: In this narrative review, we describe how RHD care can be informed by and integrated with models of care developed for priority non-communicable diseases (coronary heart disease), and high-burden communicable diseases (tuberculosis)...
November 29, 2017: BMC Health Services Research
https://www.readbyqxmd.com/read/29187036/persistence-of-villous-immaturity-in-term-deliveries-following-intrauterine-transfusion-for-parvovirus-b19-infection-and-rhd-associated-hemolytic-disease-of-the-fetus-and-newborn
#10
Whitney A McCarthy, Edwina J Popek
Common causes of fetal anemia and hydrops include parvovirus B19 infection during the first 2 trimesters of pregnancy, as well as maternal alloimmunization to RhD with subsequent hemolytic disease of the fetus and newborn (HDFN) in an RhD positive fetus. Although both of these conditions have historically caused significant fetal morbidity and mortality, the advent of intrauterine transfusion (IUT) over the last few decades have dramatically improved outcomes. Prior literature has extensively documented placental changes associated with untreated parvovirus infection and RhD HDFN in intrauterine fetal demises and preterm births; however, histopathologic changes in term placentas from term infants treated with IUT have not been reported...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/29170852/t-cell-subsets-an-integral-component-in-pathogenesis-of-rheumatic-heart-disease
#11
REVIEW
Devinder Toor, Neha Sharma
Acute rheumatic fever (ARF) is a consequence of pharyngeal infection of group A streptococcal (GAS) infection. Carditis is the most common manifestation of ARF which occurs in 30-45% of the susceptible individuals. Overlooked ARF cases might further progress towards rheumatic heart disease (RHD) in susceptible individuals, which ultimately leads to permanent heart valve damage. Molecular mimicry between streptococcal antigens and human proteins is the most widely accepted theory to describe the pathogenesis of RHD...
November 23, 2017: Immunologic Research
https://www.readbyqxmd.com/read/29168587/effect-of-secondary-penicillin-prophylaxis-on-valvular-changes-in-patients-with-rheumatic-heart-disease-in-far-north-queensland
#12
Shankar Haran, Natalie Crane, Saniya Kazi, Louise Axford-Haines, Andrew White
OBJECTIVE: To determine the effect of secondary penicillin prophylaxis (SPP) on echocardiographic diagnosed valvular changes in patients with rheumatic heart disease (RHD) or history of acute rheumatic fever (ARF) in the Townsville Health district. DESIGN: Patients with known ARF/RHD were identified from the North Queensland RHD register, serial echocardiogram results and number of SPP doses received in 2014 were collated. Descriptive statistics were utilised. SETTING: Townsville Hospital and outreach clinics within the Townsville Health catchment zone...
November 23, 2017: Australian Journal of Rural Health
https://www.readbyqxmd.com/read/29162540/genomic-analysis-of-nf-%C3%AE%C2%BAb-signaling-pathway-reveals-its-complexity-in-crassostrea-gigas
#13
Mingjia Yu, Jianming Chen, Yongbo Bao, Jun Li
NF-κB signaling pathway is an evolutionarily conserved pathway that plays highly important roles in several developmental, cellular and immune response processes. With the recent release of the draft Pacific oyster (Crassostra gigas) genome sequence, we have sought to identify the various components of the NF-κB signaling pathway in these mollusks and investigate their gene structure. We further constructed phylogenetic trees to establish the evolutionary relationship of the oyster proteins with their homologues in vertebrates and invertebrates using BLASTX and neighbor-joining method...
November 18, 2017: Fish & Shellfish Immunology
https://www.readbyqxmd.com/read/29149897/enablers-and-barriers-to-secondary-prophylaxis-for-rheumatic-fever-among-m%C3%A4-ori-aged-14-21-in-new-zealand-a-framework-method-study
#14
Hilary Barker, John G Oetzel, Nina Scott, Michelle Morley, Polly E Atatoa Carr, Keri Bolton Oetzel
BACKGROUND: Acute rheumatic fever (ARF) rates have declined to near zero in nearly all developed countries. However, in New Zealand rates have not declined since the 1980s. Further, ARF diagnoses in New Zealand are inequitably distributed--occurring almost exclusively in Māori (the indigenous population) and Pacific children--with very low rates in the majority New Zealand European population. With ARF diagnosis, secondary prophylaxis is key to prevent recurrence. The purpose of this study was to identify the perceived enablers and barriers to secondary recurrence prophylaxis following ARF for Māori patients aged 14-21...
November 17, 2017: International Journal for Equity in Health
https://www.readbyqxmd.com/read/29133472/rheumatic-heart-disease-treatment-cascade-in-uganda
#15
Chris T Longenecker, Stephen R Morris, Twalib O Aliku, Andrea Beaton, Marco A Costa, Moses R Kamya, Cissy Kityo, Peter Lwabi, Grace Mirembe, Dorah Nampijja, Joselyn Rwebembera, Craig Sable, Robert A Salata, Amy Scheel, Daniel I Simon, Isaac Ssinabulya, Emmy Okello
BACKGROUND: Rheumatic heart disease (RHD) is a leading cause of premature death and disability in low-income countries; however, few receive optimal benzathine penicillin G (BPG) therapy to prevent disease progression. We aimed to comprehensively describe the treatment cascade for RHD in Uganda to identify appropriate targets for intervention. METHODS AND RESULTS: Using data from the Uganda RHD Registry (n=1504), we identified the proportion of patients in the following care categories: (1) diagnosed and alive as of June 1, 2016; (2) retained in care; (3) appropriately prescribed BPG; and (4) optimally adherent to BPG (>80% of prescribed doses)...
November 2017: Circulation. Cardiovascular Quality and Outcomes
https://www.readbyqxmd.com/read/29131870/-low-platelet-usage-haematology-laboratories-to-store-or-not-to-store
#16
M Elmi, B Sirigireddy, J Abukar, D Tchipeva, N Chauhan, D A Tsitsikas
In the UK, hospitals with annual platelet use of less than 500 pools, like our institution, usually do not store platelets on-site and these are only ordered from the national blood service (NBS) when a transfusion is required. In 2016, we piloted routine on-site storage of one pool of A RhD negative PLT. Data were collected retrospectively on units of PLTs ordered from NBS, units transfused to patients, wastage, requirements for emergency deliveries from NBS and overall cost. These were compared to corresponding data from the four preceding years (2012-2015)...
2017: PloS One
https://www.readbyqxmd.com/read/29130670/-risk-factors-associated-with-the-outcomes-of-heart-valve-replacement
#17
Zhi Fang, Er-Yong Zhang
OBJECTIVE: To determine risk factors associated with the outcomes of heart valve replacement,especially in the patients with rheumatic heart disease (RHD). METHODS: Data were extracted from 2 696 patients who received valve replacement from August 2012 to January 2015. Spearman correlation analyses were performed to identify potential risk factors. Logistic regression models were established to determine risk factors associated with deaths and complications. RESULTS: Duration of cardiopulmonary bypass (CPB) [standard partial regression coefficient ( B')=0...
September 2017: Sichuan da Xue Xue Bao. Yi Xue Ban, Journal of Sichuan University. Medical Science Edition
https://www.readbyqxmd.com/read/29119571/targeted-exome-sequencing-defines-novel-and-rare-variants-in-complex-blood-group-serology-cases-for-a-red-blood-cell-reference-laboratory-setting
#18
Elizna M Schoeman, Eileen V Roulis, Yew-Wah Liew, Jacqueline R Martin, Tanya Powley, Brett Wilson, Glenda M Millard, Eunike C McGowan, Genghis H Lopez, Helen O'Brien, Jennifer A Condon, Robert L Flower, Catherine A Hyland
BACKGROUND: We previously demonstrated that targeted exome sequencing accurately defined blood group genotypes for reference panel samples characterized by serology and single-nucleotide polymorphism (SNP) genotyping. Here we investigate the application of this approach to resolve problematic serology and SNP-typing cases. STUDY DESIGN AND METHODS: The TruSight One sequencing panel and MiSeq platform was used for sequencing. CLC Genomics Workbench software was used for data analysis of the blood group genes implicated in the serology and SNP-typing problem...
November 8, 2017: Transfusion
https://www.readbyqxmd.com/read/29104639/snail1-is-positively-correlated-with-atrial-fibrosis-in-patients-with-atrial-fibrillation-and-rheumatic-heart-disease
#19
Furong Guo, Xin Yi, Mingjiang Li, Jinrong Fu, Sha Li
The present study investigated the association between Snail1 and atrial fibrosis in patients with atrial fibrillation (AF) and rheumatic heart disease (RHD) and to determine the possible mechanism underlying this interrelation. A total of 19 patients were included in the current study and were divided into two groups: A sinus rhythm (SR) group (n=9) and an AF group (n=10). All patients underwent heart valve replacement surgery, during which ~200 mg right atrium tissue was obtained. Hematoxylin and eosin and Masson's trichrome-stained sections were used to evaluate the morphological changes of cardiomyocytes and the level of fibrosis...
November 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29100090/exome-wide-association-study-identifies-greb1l-mutations-in-congenital-kidney-malformations
#20
Simone Sanna-Cherchi, Kamal Khan, Rik Westland, Priya Krithivasan, Lorraine Fievet, Hila Milo Rasouly, Iuliana Ionita-Laza, Valentina P Capone, David A Fasel, Krzysztof Kiryluk, Sitharthan Kamalakaran, Monica Bodria, Edgar A Otto, Matthew G Sampson, Christopher E Gillies, Virginia Vega-Warner, Katarina Vukojevic, Igor Pediaditakis, Gabriel S Makar, Adele Mitrotti, Miguel Verbitsky, Jeremiah Martino, Qingxue Liu, Young-Ji Na, Vinicio Goj, Gianluigi Ardissino, Maddalena Gigante, Loreto Gesualdo, Magdalena Janezcko, Marcin Zaniew, Cathy Lee Mendelsohn, Shirlee Shril, Friedhelm Hildebrandt, Joanna A E van Wijk, Adela Arapovic, Marijan Saraga, Landino Allegri, Claudia Izzi, Francesco Scolari, Velibor Tasic, Gian Marco Ghiggeri, Anna Latos-Bielenska, Anna Materna-Kiryluk, Shrikant Mane, David B Goldstein, Richard P Lifton, Nicholas Katsanis, Erica E Davis, Ali G Gharavi
Renal agenesis and hypodysplasia (RHD) are major causes of pediatric chronic kidney disease and are highly genetically heterogeneous. We conducted whole-exome sequencing in 202 case subjects with RHD and identified diagnostic mutations in genes known to be associated with RHD in 7/202 case subjects. In an additional affected individual with RHD and a congenital heart defect, we found a homozygous loss-of-function (LOF) variant in SLIT3, recapitulating phenotypes reported with Slit3 inactivation in the mouse...
November 2, 2017: American Journal of Human Genetics
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