巴基斯坦俾路支省先天性和遗传性畸形的流行模式。

IF 1.2 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL
Azmatullah, Muhammad Qasim Khan, Abdullah Jan, Junaid Mehmood, Sajid Malik
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引用次数: 0

摘要

研究目的本研究旨在报告巴基斯坦俾路支省普通人群中遗传性和先天性畸形(CA)的流行模式,并阐明CA的家族性/散发性表现和父母近亲关系:方法:在一项多中心横断面研究中,从2019年至2023年期间在俾路支省各地区医院和公共场所确定了CA患者。为了统一分类,采用了在线人类孟德尔遗传(OMIM)和国际疾病分类(ICD-10)数据库。采用了描述性统计方法:结果:共招募了 1185 名独立确诊的 CA 患者,其中男性占 71%。CA分为9大类和118小类。在主要分类中,神经系统疾病发病率最高(n=317;27%),其次是肢体缺陷(n=161;14%)、血液心脏缺陷(n=159;13%)、神经肌肉异常(n=156;13%)、感音神经/耳部缺陷(n=140;12%)、眼/视力障碍(n=90;8%)、肌肉骨骼缺陷(n=83;7%)、外胚层缺陷(n=31;3%)和其他(48;4%)。61%的CA为散发性,39%为家族性;51%的病例父母为近亲。还发现了几例罕见的 CA:结论:在神经肌肉异常和肌肉骨骼缺陷中,散发性病例居多,而在外胚层缺陷和肌肉骨骼缺陷中,父母近亲发病率较低,这可能说明非遗传/环境因素(如产前暴露和母体条件)在病因学上起着重要作用。在这种情况下,必须在俾路支省增加健康教育,加强产前和围产期护理,并加强卫生保健系统,以减轻 CA 的负担。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Prevalence-pattern of congenital and hereditary anomalies in Balochistan Province of Pakistan.

Objectives: This study was aimed to report the prevalence-pattern of hereditary and congenital anomalies (CA) in general population of Balochistan province of Pakistan, and to elucidate the familial/sporadic presentations and parental consanguinity of CA.

Methods: In a multi-center cross-sectional study, patients with CA were ascertained from various district hospitals and public places throughout Balochistan from 2019 to 2023. Online Mendelian Inheritance in Man (OMIM) and International Classification of Diseases (ICD-10) databases were utilized for uniformity in classification. Descriptive statistics was employed.

Results: A cohort of 1185 independent patients diagnosed with CA was recruited and the index males were 71%. The CA were classified into nine major and 118 minor entities. In the major categories, neurological disorders had the highest prevalence (n=317; 27%), followed by limb defects (n=161; 14%), blood-heart defects (n=159; 13%), neuromuscular anomalies (n=156; 13%), sensorineural/ear defects (n=140; 12%), eye/visual impairments (n=90; 8%), musculoskeletal defects (n=83; 7%), ectodermal defects (n=31; 3%), and others (48; 4%). Sixty one percent CA were sporadic in nature and 39% were familial; and parental consanguinity was observed in 51% cases. Several rare CA were witnessed.

Conclusions: High preponderance of sporadic presentations in neuromuscular anomalies and musculoskeletal defects and low incidence of parental consanguinity in ectodermal defects and musculoskeletal defects may depict a significant etiological role of non-genetic/environmental factors such as prenatal exposures and maternal conditions. In this context, it is important to increase health education, enhance antenatal and perinatal care, and strengthen the health-care system in Balochistan to reduce the burden of CA.

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来源期刊
Pakistan Journal of Medical Sciences
Pakistan Journal of Medical Sciences 医学-医学:内科
CiteScore
4.10
自引率
9.10%
发文量
363
审稿时长
3-6 weeks
期刊介绍: It is a peer reviewed medical journal published regularly since 1984. It was previously known as quarterly "SPECIALIST" till December 31st 1999. It publishes original research articles, review articles, current practices, short communications & case reports. It attracts manuscripts not only from within Pakistan but also from over fifty countries from abroad. Copies of PJMS are sent to all the import medical libraries all over Pakistan and overseas particularly in South East Asia and Asia Pacific besides WHO EMRO Region countries. Eminent members of the medical profession at home and abroad regularly contribute their write-ups, manuscripts in our publications. We pursue an independent editorial policy, which allows an opportunity to the healthcare professionals to express their views without any fear or favour. That is why many opinion makers among the medical and pharmaceutical profession use this publication to communicate their viewpoint.
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