Results 41 to 50 of about 10,626 (165)
Prevention of hemoglobinopathies in Turkey
Thalassemia Reports, 2013 Hemoglobinopathies are the most common genetic disorders in Turkey. The incidence of beta thalassemia and sickle cell trait (HbAS) is 2.0% and 0.3% respectively. In addition to HbS, 51 abnormal hemoglobins and 42 different beta thalassemia mutations have
Mehmet Akif Çürük +2 more
doaj +1 more source
Detection of Aneuploidy Using Suspension Array Technology after Multiplex Ligation-dependent Probe Amplification [PDF]
, 2009 摘要 本论文围绕作为新一代分子诊断技术平台的液相芯片检测平台展开，以染色体非整倍体异常疾病为对象，首次提出结合多重连接探针扩增(MLPA)的液相悬浮芯片技术(又称MLPA-液相悬浮芯片技术)，并且考察该技术在定量分析方面的应用潜力。染色体非整倍体异常疾病是一类因染色体数目增加或减少引起的发病率高的遗传性疾病，是孕妇需要进行产前检查的主要原因之一。因此将染色体非整倍体异常疾病作为检测对象探讨该技术检测拷贝数异常的可行性，既有技术创新性又有实际检测意义。 第一章 ...
曾懿
core
Ultrasound in Obstetrics &Gynecology, Volume 64, Issue 6, Page 808-817, December 2024.ABSTRACT Objectives The primary aim was to validate the International Ovarian Tumor Analysis (IOTA) benign simple descriptors (BDs) followed by the Assessment of Different NEoplasias in the adneXa (ADNEX) model, if BDs cannot be applied, in a two‐step strategy to classify adnexal masses identified during pregnancy. The secondary aim was to describe the
J. Barcroft +8 more
wiley +1 more source
Thalassemia Reports, 2014 Hemoglobinopathies (HBP) are the most common genetic disorder in Oman and are in need of prevention programs due to the high incidence of β-thalassemia major and sickle cell disease. Prenatal diagnosis (PD) and selective pregnancy termination is shown to
Suha Mustafa Hassan +3 more
doaj +1 more source
Veterinary Dermatology, Volume 35, Issue 6, Page 736-744, December 2024.Background – Topical therapy is preferred for otitis externa (OE) in dogs, and otic products commonly contain glucocorticoids that can be systemically absorbed and possibly interfere with diagnostic tests such as intradermal testing (IDT). Hypothesis/Objectives – To determine the effect of a long‐lasting otic solution containing mometasone furoate (MF)
Jennifer L. Clegg +2 more
wiley +1 more source
Analysis of chromosomal karyotypes in cases of cytogenetic counseling and leukemia disea [PDF]
, 2010 目的：应用染色体分析技术对厦门地区的遗传咨询者以及白血病患者进行染色体核 型分析，以了解厦门地区染色体病发生状况、对优生优育工作提供实验依据以及通过染 色体核型分析对白血病患者的诊断、治疗和预后提供实验依据。方法：对遗传咨询者采 用外周血淋巴细胞培养法，对白血病患者采用骨髓细胞短期培养法，G显带。结果：2005 年至2008年厦门地区遗传咨询者染色体病发生率为19.11%。其中，不良孕产组的染色 体异常率为7.77%；性发育不良组的染色体异常率为25.28%；智力低下组的染色体异常 率为47.76 ...
张旺东
core
Ultrasound in Obstetrics &Gynecology, Volume 64, Issue 5, Page 635-650, November 2024.ABSTRACT Objectives To reach an international expert consensus on the diagnosis, prognosis and management of fetal lower urinary tract obstruction (LUTO) by means of a Delphi procedure, and to use this to define a core outcome set (COS). Methods A three‐round Delphi procedure was conducted among an international panel of experts in fetal LUTO.
H. J. Mustafa +90 more
wiley +1 more source
Linchuang shenzangbing zazhi, 2019 病例资料患者,女,37岁,因"维持性血液透析10年,左上肢内瘘血管杂音消失2 h"入院。已诊断"慢性肾脏病5期、慢性肾小球肾炎、肾性高血压、肾性贫血",5年前诊断"重度骨质疏松、肾性骨病、甲状旁腺功能亢进",2015年5月至北京中日友好医院行甲状旁腺切除术、左上肢动静脉内瘘重建术。生育史:G3P1,顺产1女婴,入院前因"停经50 d",妇产彩超诊断"早孕"。目前以人工血管为血液透析通路2年余,行每周3次血液透析治疗 ...
LU Yong-xin +5 more
doaj
The preliminary study on the relationship of heavy metal（lead and cadmium） and adverse pregnancy outcomes [PDF]
, 2013 目的通过流行病学调查，基本掌握厦门及周边地区行产前诊断孕妇（高危）及未行产前诊断（对照）的妊娠结局，并结合高危行产前诊断的孕妇的外周血及羊水中的重金属（铅、镉）暴露情况，评估对胎儿健康的危害。最后探讨孕期重金属（铅、镉）暴露情况对妊娠结局的危害情况。 方法利用问卷形式收集孕妇流行病学资料，同时采集高危孕妇的外周静脉血及羊水（妊娠16-24周之间）。应用MG2血液铅镉分析仪（分光光度计）测定高危孕妇外周血及羊水中重金属（铅、镉）含量。 结果 1.高危组孕妇（N=482）的流行病学调查资料结果 ...
张凯凤
core
Maroteaux-Lamy综合征的ARSB基因分析及新突变的致病性鉴定 [PDF]
, 2018 【目的】对7家拟诊为Maroteaux_Lamy综合征(MPSⅥ)的患儿及其父母进行ARSB基因的突变检测和新突变的致病性鉴定,以揭示其分子发病机制,为将来的产前/植入前基因诊断等创造前提条件。【方法】在临床初诊及GAG尿检和MPS酶检的基础上,抽取患儿及其父母EDTA抗凝血,进行ARSB基因的PCR扩增和Sanger测序。对所发现的新突变,在经HGMD、1000G和ExAC等数据库核实排查后,首先用SWISS-MODEL软件分析、比对突变蛋白和正常蛋白的空间构象,然后用Clustal ...
唐佳 +7 more
core +1 more source