METHODS: Genome-wide linkage analysis was carried out on eight large extended families of NSCL/P with the total of 91 individuals among Malay population using microarray platform. Based on linkage analyses findings, copy number variation (CNV) of LPHN2, SATB2, PVRL3, COL21A1, and TOX3 were identified in four large extended families that showed linkage evidence using quantitative polymerase chain reaction (qPCR) as for a validation purpose. Copy number calculated (CNC) for each genes were determined with Applied Biosystems CopyCallerTM Software v2.0. Normal CNC of the target sequence expected was set at two.
RESULTS: Genome-wide linkage analysis had discovered several genes including TOX3 and COL21A1 in four different loci 4p15.2-p16.1, 6p11.2-p12.3, 14q13-q21, and 16q12.1. There was significant decreased, p
AIM: Our present paper has been written to disclose the statistical counts on the number of vWD cases reported from 2011 to 2013.
MATERIAL AND METHODS: This article is based on sociodemographic data, diagnoses and laboratory findings of vWD in Malaysia. A total of 92 patients were reported to have vWD in Malaysia from 2011 to 2013.
RESULTS: Sociodemographic-analysis revealed that 60% were females, 63% were of the Malay ethnicity, 41.3% were in the 19-44 year old age group and 15.2% were from Sabah, with the East region having the highest registered number of vWD cases. In Malaysia, most patients are predominately affected by vWD type 1 (77.2%). Factor 8, von Willebrand factor: Antigen and vWF: Collagen-Binding was the strongest determinants in the laboratory profiles of vWD.
CONCLUSION: This report has been done with great interest to provide an immense contribution from Malaysia, by revealing the statistical counts on vWD from 2011-2013.
DESIGN: A descriptive cross-sectional multicenter study based on a study questionnaire was conducted of parents of patients with cleft lip and/or palate.
SETTING: Three centers providing cleft care from different regions in Malaysia: the national capital of Kuala Lumpur, east coast of peninsular Malaysia, and East Malaysia on the island of Borneo.
PARTICIPANTS: Parents/primary caregivers of patients with cleft lip and/or palate.
RESULTS: There were 295 respondents from different ethnic groups: Malays (58.3%), indigenous Sabah (30.5%), Chinese (7.1%), Indian (2.4%), and indigenous Peninsular Malaysia and Sarawak (1.7%). Malay participants reported that attributing causes of cleft to God's will, superstitious beliefs that the child's father went fishing when the mother was pregnant or inheritance. Sabahans parents reported that clefts are caused by maternal antenatal trauma, fruit picking, or carpentry. The Chinese attribute clefts to cleaning house drains, sewing, or using scissors. Cultural background was reported by 98.3% of participants to pose no barrier in cleft treatment. Those from lower socioeconomic and educational backgrounds were more likely to encounter difficulties while receiving treatment, which included financial constraints and transportation barriers.
CONCLUSION: There is a wide range of cultural beliefs in the multiethnic society of Malaysia. These beliefs do not prevent treatment for children with cleft. However, they face challenges while receiving cleft treatment, particularly financial constraints and transportation barriers. Such barriers are more likely experienced by parents from lower income and lower education backgrounds.