1.The Association of TOX3 Copy Number Variation with Gene Expression and Susceptibility to Nonsyndromic Cleft Lip and/or Palate in a Malay Cohort
Noor Areefa Ameera Mohd Ma&rsquo ; amor ; Nurul Syazana Mohamad Shah ; Sarina Sulong ; Nazia Abdul Majid ; Izzeddin Jamil Abualjubain ; Wan Azman Wan Sulaiman
Archives of Orofacial Sciences 2025;20(2):151-164
The Association of TOX3 Copy Number Variation with Gene Expression and Susceptibility to Nonsyndromic Cleft Lip and/or Palate in a Malay Cohort
Nonsyndromic cleft lip and/or palate (NSCL/P) is a common congenital malformation with genetic
influences. While Thymocyte selection-associated high mobility group box 3 (TOX3) is involved in
other developmental processes, its role in NSCL/P remained unexplored. This study investigated the
association between TOX3 copy number, expression, and NSCL/P in 64 Malay NSCL/P cases and 64
normal controls. Samples from patients undergoing cleft repair surgery and eligible volunteers for the
control group were quantified via quantitative polymerase chain reactions (qPCR). A higher mean of
TOX3 copy number was found in cases (2.195 ± 0.689) compared to controls (1.962 ± 0.558; p < 0.05).
Similarly, a higher TOX3 expression was observed in cases (0.014 [IQR 0.024]) compared to controls
(0.006 [IQR 0.019]; p < 0.001). Unadjusted analyses showed higher TOX3 copy number (OR = 1.850;
p < 0.05) and its expression associated with NSCL/P. However, these associations were nullified after
adjusting for sex and age (p > 0.05). Instead, male sex emerged as a significant independent predictor for NSCL/P (adjusted OR = 4.03; p < 0.001). Besides, an inverse, weak correlation was observed between TOX3 copy number and expression in NSCL/P patients (ρ = –0.285; p < 0.05) indicating the potential role of epigenetics in this condition. While male sex strongly contributed to the NSCL/P condition, our results suggest that TOX3 is not an independent genetic risk factor for NSCL/P in this population. These results highlight sex as a primary demographic risk factor and underscore the importance of considering demographic context in genetic association studies.
2.Early Versus Late ECV In Primigravidae With Breech Presentation: A Pilot Study
Nor Azlin MI ; Norliza H ; Norzilawati MN ; Mahdy ZA ; Shuhaila A ; Jamil MA
Malaysian Journal of Public Health Medicine 2013;13(1):20-27
This was a pilot study comparing the success between early versus late external cephalic version (ECV) involving primigravidae with singleton breech pregnancy. They were randomised into early (34–36 weeks) and late (37-40 weeks) ECV groups. A total of 44 women were initially randomised into 22 women for each group. The overall ECV success rate was acceptable in both groups although insignificantly higher in the late ECV group (55.6% versus 46.7%, p= 0.732.) Caesarean section in the early ECV group was higher (80% versus 72.2%). Early ECV group had women with higher BMI (29.5 versus 26.8 kg/m2, p=0.107), anterior placentation (60% versus 38.9%) and extended breech presentation (55.6% versus 44.4%; p= 0.296). In conclusion, early ECV in primigravidae showed no better success rate than late ECV. Maternal obesity, anterior placentation and extended breech presentation should alert to failure risk.
3.Ectopic Pregnancy Following Levonorgesterol-Only Emergency Contraception: The First Malaysian Case Report
Natasha MN ; Khoo HW ; Sulaiman AS ; Nur Azurah AG, Md Dali Azh, Jamil MA
Medicine and Health 2012;7(2):107-111
Levonorgestrel (LNG) is a well-known safe and efficacious emergency contraception (EC). However, ectopic pregnancy following the failure of LNG-only EC has been reported. The exact incidence of ectopic pregnancy has been hindered by lack of data due to the fact that LNG-only EC is accessible at pharmacies without a prescription. We describe a case of ectopic pregnancy in an 18 year-old single woman who took LNG-only EC within 48 hours of unprotected sexual intercourse.


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