شیوع میکروسفالی ارثی در بیماریهای اتوزوم مغلوب ناشی از ازدواجهای فامیلی در اهواز
Authors
Abstract:
Background and purpose: Microcephaly is reduced head circumference more than two standard deviation below the mean for the age and sex. Genetic microcephaly disorder is divided into two categories; isolated and syndromic microcephaly. The incidence of autosomal recessive primary microcephaly in consanguineous population is more than that in non-consanguineous population. So far, few studies are conducted on the common genes in microcephaly in Iran. The present study, reveals the necessity to study, and implementing programs for genetical and clinical prenatal diagnosis. Materials and methods: In this study, the records of more than 1500 families participating in genetic counseling (2003-2014 in Ahvaz Welfare Organization) were used. Depending on the type of disease and drawn pedigree, the frequency of isolated microcephaly was calculated among autosomal recessive patients. Data was analyzed applying Chi-square test. Results: Microcephaly and isolated microcephaly were observed in 5.51% and 3.29% of autosomal recessive patients, respectively. The risk of isolated microcephaly in non-Arab ethnic was 3.56 times more than the risk in Arab ethnic. The risk of isolated microcephaly in double first cousin and first cousin offspring was 4.44 times more than the risk of it in the first cousin once removed and other consanguineous marriages offsprings. Conclusion: Consultation for risk of isolated microcephaly is more necessary in non-Arab ethnic and in double first cousin and first cousin offspring.
similar resources
شیوع میکروسفالی ارثی در بیماری های اتوزوم مغلوب ناشی از ازدواج های فامیلی در اهواز
سابقه و هدف: کاهش دور سر بیش از 2 انحراف معیار نسبت به سن و جنس، میکروسفالی قلمداد می شود. اختلال میکروسفالی ژنتیکی به دو دسته میکروسفالی ایزوله و سندرومی تقسیم می گردد. شیوع میکروسفالی اولیه اتوزوم مغلوب در جمعیت های همخون بیش تر ازجمعیت غیر همخون است. با وجود اهمیت میکروسفالی، تاکنون مطالعات چندانی بر ژن های رایج میکروسفالی در ایران صورت نگرفته است. این مطالعه، ضرورت مطالعه، و ارائه راه کارها...
full textگزارش یک مورد بیماری کلیه پلی‌کیستیک اتوزوم مغلوب ناشی از دو جهش به‌صورت هتروزیگوت مرکب در ژن PKHD1: گزارش موردی
Background: Autosomal recessive polycystic kidney disorder (ARPCKD) is one of the most prevalent hereditary disorders in neonates and children. Its frequency is between 1/6000 to 1/55000 births. In the most severe cases, it can be diagnosed prenatally by the presence of enlarged, echogenic kidneys and oligohydramnios. However, in the milder forms, clinical manifestations are usually detected in...
full textاثر بربرین در تنظیم آستروسیتهای Gfap+ ناحیه هیپوکمپ موشهای صحرایی دیابتی شده با استرپتوزوتوسین
Background: Diabetes mellitus increases the risk of central nervous system (CNS) disorders such as stroke, seizures, dementia, and cognitive impairment. Berberine, a natural isoquinolne alkaloid, is reported to exhibit beneficial effect in various neurodegenerative and neuropsychiatric disorders. Moreover astrocytes are proving critical for normal CNS function, and alterations in their activity...
full textاثر بربرین در تنظیم آستروسیتهای Gfap+ ناحیه هیپوکمپ موشهای صحرایی دیابتی شده با استرپتوزوتوسین
Background: Diabetes mellitus increases the risk of central nervous system (CNS) disorders such as stroke, seizures, dementia, and cognitive impairment. Berberine, a natural isoquinolne alkaloid, is reported to exhibit beneficial effect in various neurodegenerative and neuropsychiatric disorders. Moreover astrocytes are proving critical for normal CNS function, and alterations in their activity...
full textMy Resources
Journal title
volume 25 issue 134
pages 345- 350
publication date 2016-03
By following a journal you will be notified via email when a new issue of this journal is published.
No Keywords
Hosted on Doprax cloud platform doprax.com
copyright © 2015-2023