Journal of Human and Clinical Genetics最新文献

Schmid Type Metaphyseal Chondrodysplasia in a Large Single Genetic Lineage 大型单一遗传谱系中的Schmid型干骺端软骨发育不良

Journal of Human and Clinical Genetics Pub Date : 2021-05-27 DOI: 10.29245/2690-0009/2021/1.1118

D. Michaeli, Ravi S Rajendra, Daniel C. Kim, Michael D. Goodlett, J. R. Humphries, P. Nimityongskul

{"title":"Schmid Type Metaphyseal Chondrodysplasia in a Large Single Genetic Lineage","authors":"D. Michaeli, Ravi S Rajendra, Daniel C. Kim, Michael D. Goodlett, J. R. Humphries, P. Nimityongskul","doi":"10.29245/2690-0009/2021/1.1118","DOIUrl":"https://doi.org/10.29245/2690-0009/2021/1.1118","url":null,"abstract":"Several subtypes of metaphyseal chondrodysplasia exist, of which the Schmid type is the most common. Characteristics include short limbed dwarfism, coxa vara, genu vara, and waddling gait. Skull, spine, and upper extremity involvement is minimal and often nonexistent. The primary defect involves a mutation affecting the metaphyseal portion of the growth plate, while the epiphysis is normal. A large single lineage family with metaphyseal chondrodysplasia, Schmid type (MCDS) was investigated. A genetic pedigree of 135 members of this family showed autosomal dominant inheritance between all 42 affected members. The large sample size allowed for the characterization of a broad range of features present in cases of MCDS. The majority of affected patients exhibited coxa vara with an average neck/shaft angle of 105 degrees. Despite coxa vara, premature osteoarthritis of the hip is not a feature of MCDS. Genu varum is the most prevalent knee disorder in this group, but greater than 30% of patients may exhibit genu valgum. This manuscript highlights MCDS background information, differential diagnoses, treatment options, and prognosis to aid in clinical decision-making.","PeriodicalId":127978,"journal":{"name":"Journal of Human and Clinical Genetics","volume":"50 4 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129959969","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Assessment of Adiposity in Neurofibromatosis Type 1: Comparison between Dual Energy X-ray Absorptiometry and Conventional Methods 1型神经纤维瘤病脂肪的评估:双能x线吸收仪与常规方法的比较

Journal of Human and Clinical Genetics Pub Date : 2020-06-01 DOI: 10.29245/2690-0009/2020/1.1112

M. Souza, A. Jansen, L. Rodrigues, Darlene L S Vilela, A. Martins, J. Souza, N. Rezende

{"title":"Assessment of Adiposity in Neurofibromatosis Type 1: Comparison between Dual Energy X-ray Absorptiometry and Conventional Methods","authors":"M. Souza, A. Jansen, L. Rodrigues, Darlene L S Vilela, A. Martins, J. Souza, N. Rezende","doi":"10.29245/2690-0009/2020/1.1112","DOIUrl":"https://doi.org/10.29245/2690-0009/2020/1.1112","url":null,"abstract":"Neurofibromatosis type 1 (NF1) is a genetic disease, characterized by multiple neural tumors as well as cutaneous symptoms. A simpler, non-invasive and cost-effective method for measuring adiposity would be useful in the care of individuals with NF1. Dual energy X-ray absorptiometry (DXA) is the standard method for this assessment but it is not widely accessible in daily clinical practice. This study aimed to compare body compositions measured using bioelectrical impedance analysis (BIA) and skinfold thickness (ST) predictive equations to those measured with DXA in twenty-six individuals with NF1. Body fat percentage (BF%) was predicted using DXA, five ST-equations and four BIA-equations. The BF% measured by DXA was 26.6 ± 7.3 and 37.4 ± 7.2 % for men and women, respectively. The best predictor of BF% was the Sun et al. BIA equation with a smaller difference compared to DXA ( P =0.664), better median of adequacy (101.0%) and accuracy of 46.2%. For males, the Kyle et al. and Lohman BIA equations were the best predictors (accuracy: 78.6 and 64.3%, respectively). For females, all nine equations showed lower differences compared to DXA ( P <0.001 for all equations). Among ST equations, Durnin and Womersley showed a smaller difference, greater median of adequacy and percentage of adequacy compared to DXA, even when stratified by sex. This study showed that BIA equations present better adequacy and accuracy compared to SK equations. Nevertheless, these equations should be used with caution in this population due to the variations observed in comparison to DXA.","PeriodicalId":127978,"journal":{"name":"Journal of Human and Clinical Genetics","volume":"42 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"117285897","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Hemoglobin AE, AO-Arab and SO-Arab Genotypes in Burkina Faso: Hematological Parameters, Genotypic and Allelic Frequencies of Hemoglobinopathies 布基纳法索的血红蛋白AE、AO-Arab和SO-Arab基因型:血红蛋白病的血液学参数、基因型和等位基因频率

Journal of Human and Clinical Genetics Pub Date : 2020-06-01 DOI: 10.29245/2690-0009/2020/1.1109

M. Traoré, T. Zohoncon, P. Ouedraogo, A. Ouattara, D. Obiri-Yeboah, Issoufou Tao, Geoffroy Ganane, M. Belemgnégré, T. Boro, F. Sanou, J. Simporé

引用次数: 2

Using Metaphors to Explain Immunotherapy to Cancer Patients 用隐喻向癌症患者解释免疫疗法

Journal of Human and Clinical Genetics Pub Date : 2019-11-01 DOI: 10.29245/2690-0009/2019/3.1108

Rachel S. Hianik, M. Bilen, R. Kudchadkar, M. Dixon, M. Yushak, R. Pentz

引用次数: 1

Coats Plus Syndrome and Mutation of the TERT Gene: A Case Report Coats +综合征与TERT基因突变1例报告

Journal of Human and Clinical Genetics Pub Date : 2019-11-01 DOI: 10.29245/2690-0009/2019/3.1107

T. Grenet, C. Kannengiesser, R. Borie, A. Giocanti-Aurégan

引用次数: 0

Testing Primer Sequence Variations Using AS-PCR to Diagnose the V232D-CFTR Mutation 应用AS-PCR检测引物序列变异诊断V232D-CFTR突变

Journal of Human and Clinical Genetics Pub Date : 2019-06-01 DOI: 10.29245/2690-0009/2019/2.1105

D. Hohman

{"title":"Testing Primer Sequence Variations Using AS-PCR to Diagnose the V232D-CFTR Mutation","authors":"D. Hohman","doi":"10.29245/2690-0009/2019/2.1105","DOIUrl":"https://doi.org/10.29245/2690-0009/2019/2.1105","url":null,"abstract":"There are over 1,700 mutations of the CFTR gene that lead to the autosomal recessive disease cystic fibrosis (CF). Of these, the V232D mutation is a rare condition caused by a single nucleotide polymorphism at the 232nd codon. At the mutation site, a T→A nucleotide change causes GTC (valine), to become GAC (aspartic acid). This promotes the formation of non-native hydrogen bonds, which lead to a misfolding of the CFTR protein. To increase the specificity of detecting the V232D mutation of CFTR, an array of allele specific polymerase chain reaction (AS-PCR) strategies were tested. Preliminary control experiments were conducted by analyzing commercially purified genomes and human genomic DNA isolated from somatic buccal cells using chelex resin. Primers were developed to compare amplification stability versus nucleotide sequence. Applying the Yaku group’s strategy, we hypothesized that a primer designed with the V232D SNP nucleotide mismatch at the second base from the 3’ end would be more effective at diagnosing the V232D mutation of CFTR than a primer with a mismatch at the third base from the 3’ end due to steric strain principle limiting false positive results. Final analysis yielded data to support the function of our mutant seeking primers on mutant DNA. Yet further studies are needed to investigate mismatched nucleotide placement versus annealing and polymerization.","PeriodicalId":127978,"journal":{"name":"Journal of Human and Clinical Genetics","volume":"31 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2019-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"130079795","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

Genetics of Atrial Fibrillation and Atrial Cardiomyopathy 房颤和房性心肌病的遗传学

Journal of Human and Clinical Genetics Pub Date : 2019-06-01 DOI: 10.29245/2690-0009/2019/2.1106

J. H. Andersen, M. Olesen

引用次数: 1

Pathogenetic Potential of the Mutations of SPTAN 1 sptan1基因突变的发病潜力

Journal of Human and Clinical Genetics Pub Date : 2019-02-01 DOI: 10.29245/2690-0009/2019/1.1101

V. Rapaccini, Francesco Miconi, S. Esposito, A. Pasini

引用次数: 0

Commentary: "The Etiology of Down Syndrome" 评论:《唐氏综合症的病因学》

Journal of Human and Clinical Genetics Pub Date : 2019-02-01 DOI: 10.29245/2690-0009/2019/1.1102

Hultén Ma, E. Iwarsson, J. Jonasson

引用次数: 0

Commentary: Sortilin Inhibition Limits Secretion-induced Progranulin-dependent Breast Cancer Progression and Cancer Stem Cell Expansion 评论:Sortilin抑制限制分泌诱导的前蛋白依赖性乳腺癌进展和癌症干细胞扩增

Journal of Human and Clinical Genetics Pub Date : 2019-02-01 DOI: 10.29245/2690-0009/2019/1.1103

S. Rhost, É. Hughes, A. Ståhlberg, G. Landberg

引用次数: 0