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Fulltext A family study of HbS in a Malay family by molecular analysis

Hafiza A, Noor HH, Noor FA, Azlin I, Ainoon O

Malays J Pathol, 2010 Dec;32(2):137-41.
PMID: 21329186 MyJurnal

Sickle cell disease (SCD) is an inherited red cell disorder, characterized by the tendency of haemoglobin S or sickle haemoglobin to polymerize and assume a characteristic sickle shape. Molecular analysis has been the mainstay of detection method when confirmation is required. Previously a polymerase chain reaction (PCR)-based restriction enzyme analysis was used for this purpose. A simple bidirectional allele-specific amplification, recently described by Waterfall in 2001 was used to detect the GAG --> GTG mutation on codon 6 of the beta globin gene. Two sets of primers for the mutant and the wild type alleles were used in a single PCR reaction to amplify the regions of interest. The resultant PCR products will produce two fragments at 517 and 267 base pair (bp) respectively. This report highlights the investigations for SCD in the family of a 16-year old girl with recurrent painful crisis affecting the lower limbs whereby the family members are asymptomatic for the disease. Her haemoglobin electrophoresis at an alkaline pH showed dense bands at the HbS and HbF regions, while her father and two sisters had bands at HbS, HbF and HbA. The PCR analysis showed that she was homozygous for the mutation by the presence of only one band at 267 bp fragment, while the father and her sisters were heterozygotes, with the presence of two bands at 267 as well as 517 bp fragments. DNA sequencing of the sample confirmed the mutation. In conclusion, this case report highlighted the simple and cheap yet practical method for molecular confirmation of the presence of HbS gene in subjects with homozygous or heterozygous state of the condition.

Matched MeSH terms: Fathers
Siriraj I Gγ(Aγδβ)0-thalassaemia causing severe thalassaemia intermedia in compound heterozygous state with IVS1-1(G→T) mutation

Wong YY, Alauddin H, Raja Sabudin RZA, Ithnin A, Jalil N, Abdul Latiff Z, et al.

Malays J Pathol, 2021 Apr;43(1):95-100.
PMID: 33903312

The Siriraj I Gγ(Aγδβ)0-thalassaemia is a novel mutation involving a 118kb deletion of the β-globin gene cluster. It was first reported in 2012 in two unrelated families from the southern part of Thailand. The carriers in the heterozygous state are clinically asymptomatic. Nonetheless, its complex interaction with other β-thalassaemia could give rise to different clinical phenotypes, ranging from mild thalassaemia intermedia to thalassaemia major. We report here a case of a six-year-old Malay boy, presented with pallor, growth failure and hepatosplenomegaly. His haemoglobin at presentation was 9.2g/dL with a mean cell haemoglobin of 22.6pg and a mean cell volume of 69.9fl. His peripheral blood smear showed features of thalassaemia intermedia. Haemoglobin (Hb) analysis revealed markedly raised Hb F (83%), normal HbA2 levels and absent HbA. Deoxyribonucleic acid (DNA) analysis showed compound heterozygous IVS1-1 (G→T) β-globin gene mutation and Siriraj I Gγ(Aγδβ)0-deletion (genotype βIVS1-1/ β Siriraj I deletion). Both his father and elder sister are carriers of Siriraj I Gγ(Aγδβ)0-thalassaemia while his mother carries IVS1-1 (G→T) gene mutation. Clinically, the patient is transfusion dependent on six weekly regime. To the best of our knowledge, this is the first reported case in Malaysia involving unique Siriraj I Gγ(Aγδβ)0-thalassaemia and IVS1-1 (G→T) in a compound heterozygous state. In summary, detection of Siriraj I Gγ(Aγδβ)0-thalassaemia is essential as this deletion can lead to severe disease upon interaction with a β-thalassemia point mutation as demonstrated in our case. The establishment of effective carrier screening and genetic counselling is important to prevent its adverse consequences.

Matched MeSH terms: Fathers
Prevalence and predictors of pediculosis capitis among primary school children in Hulu Langat, Selangor

Lye MS, Tohit NF, Rampal L

Med J Malaysia, 2017 02;72(1):12-17.
PMID: 28255134 MyJurnal

INTRODUCTION: Pediculosis capitis infestation is endemic in both developing and developed countries leading to various physical, economical and psychological consequences. Our main objective was to determine the prevalence and predictors of pediculosis capitis among primary school children in Hulu Langat District, Malaysia.
METHODS: An analytic cross-sectional study using cluster random sampling method was carried out in Hulu Langat District, Malaysia. Self-administered pretested questionnaires were used to collect the data. Hair and scalp examination was also carried out. Multivariate logistic regression was used to control for potential confounding and determine the predictors.
RESULTS: The overall mean age of the 1,336 respondents was 9.3 years. Majority were males (52.8%), Malays (79.5%) and 81.3% of the fathers had secondary or tertiary education as compared to 77.3% for the mothers. The overall prevalence of pediculosis capitis was 15.3%. The prevalence of pediculosis was significantly higher among females (28.4%) than males (3.7%, p=0.001). Multivariate logistic regression analysis showed that age 10 years or more (Odds Ratio (OR) = 2.34, 95% Confidence Interval (CI) = 1.673 to 3.272), female gender (OR = 10.26, 95% CI = 6.620 to 15.903), history of contact with an infested person (OR = 2.11, 95% CI = 1.506 to 2.960), Indian compared to Chinese (OR = 3.55, 95% CI = 1.282 to 9.860), Malay to Chinese (OR = 2.59, 95% CI = .994 to 6.774) were associated with pediculosis capitis.
CONCLUSIONS: Prevalence of pediculosis capitis among children aged 7 - 12 years in Hulu Langat District was high. There is a need for screening and treatment of pediculosis capitis in primary schools.

Matched MeSH terms: Fathers
Fulltext Clinical characteristics and demographic profile of children with Autism Spectrum Disorder (ASD) at child development clinic (CDC), Penang Hospital, Malaysia

Sathyabama R

Med J Malaysia, 2019 Oct;74(5):372-376.
PMID: 31649211

OBJECTIVE: To explore socio-demographics and clinical characteristics of children with Autism Spectrum Disorder (ASD) at Child Development Clinic (CDC), Penang Hospital.

STUDY DESIGN: A record review study of 331 children with ASD attending CDC, Penang Hospital from September 2013 to April 2017.

RESULTS: Out of 331 children with ASD, 82.5% were males, 17.5% females, with male to female ratio of 4.7:1. Mean age at consultation was 5 years and 6 months (SD 31.68 months) with age range from 19 months to 18 years and 4 months. 85.8% were term infants with normal birth weight. History of speech regression was noted in 14.8%, epilepsy and genetic disorders in 9.4% and 5.7% respectively. Sleep problems was reported in 29.3%, dietary issues 22.1%, challenging behaviour 24.2% and ADHD 14.2%. Mean age of the father and mother at birth was 33.6 and 31.6 years respectively.

CONCLUSION: In this study, we report a higher male to female ratio and mean age at referral with some similar rates of neurodevelopmental and medical comorbidities and relatively younger parental age with higher parental education levels.

Matched MeSH terms: Fathers
Fulltext The association between tobacco and the risk of asthma, rhinoconjunctivitis and eczema in children and adolescents: analyses from Phase Three of the ISAAC programme

Mitchell EA, Beasley R, Keil U, Montefort S, Odhiambo J, ISAAC Phase Three Study Group

Thorax, 2012 Nov;67(11):941-9.
PMID: 22693180 DOI: 10.1136/thoraxjnl-2011-200901

BACKGROUND: Exposure to parental smoking is associated with wheeze in early childhood, but in 2006 the US Surgeon General stated that the evidence is insufficient to infer a causal relationship between exposure and asthma in childhood and adolescents.
AIMS: To examine the association between maternal and paternal smoking and symptoms of asthma, eczema and rhinoconjunctivitis.
METHODS: Parents or guardians of children aged 6-7 years completed written questionnaires about symptoms of asthma, rhinoconjunctivitis and eczema, and several risk factors, including maternal smoking in the child's first year of life, current maternal smoking (and amount) and paternal smoking. Adolescents aged 13-14 years self completed the questionnaires on these symptoms and whether their parents currently smoked.
RESULTS: In the 6-7-year age group there were 220 407 children from 75 centres in 32 countries. In the 13-14-year age group there were 350 654 adolescents from 118 centres in 53 countries. Maternal and paternal smoking was associated with an increased risk of symptoms of asthma, eczema and rhinoconjunctivitis in both age groups, although the magnitude of the OR is higher for symptoms of asthma than the other outcomes. Maternal smoking is associated with higher ORs than paternal smoking. For asthma symptoms there is a clear dose relationship (1-9 cigarettes/day, OR 1.27; 10-19 cigarettes/day, OR 1.35; and 20+ cigarettes/day, OR 1.56). When maternal smoking in the child's first year of life and current maternal smoking are considered, the main effect is due to maternal smoking in the child's first year of life. There was no interaction between maternal and paternal smoking.
CONCLUSIONS: This study has confirmed the importance of maternal smoking, and the separate and additional effect of paternal smoking. The presence of a dose-response effect relationship with asthma symptoms suggests that the relationship is causal, however for eczema and rhinoconjunctivitis causality is less certain.

Matched MeSH terms: Fathers/statistics & numerical data
Fulltext Gender Socialisation and its Relation to Women’s Work and Family Conflict

NWANESI PETER KARUBI, ELAINE CHAI YEE NING

Trends in Undergraduate Research, 2018;1(1):0-0.
MyJurnal

This article examines the impact of gender socialization in Malaysian families, especially on daughters regarding their perception towards work inside and outside the home. Hence, this study utilized in-depth interview as part of the qualitative methods to obtain quality data needed. The study establishes, that patriarchy environment, especially one with the classic model of ‘breadwinner father, housewife mother’ creates a pressure on women to bear more household responsibility. Thus, the dominant gender ideologies are entangled with ‘motherhood mandate’ and ‘superior feminine virtue’ that is associated with the reason women left the labour force. It was equally necessary to point out here that other agents of socialization such as media, peers and education played its part as well and influenced the respondent’s conformity to patriarchal values.

Matched MeSH terms: Fathers
Fulltext Parental reports of behavioural outcome among paediatric leukaemia survivors in Malaysia: a single institution experience

Hamidah A, Sham Marina M, Tamil AM, Loh CK, Zarina LA, Jamal R, et al.

Trop Med Int Health, 2014 Oct;19(10):1177-84.
PMID: 25047756 DOI: 10.1111/tmi.12358

To determine the behavioural impact of chemotherapy in survivors of acute lymphoblastic leukaemia (ALL) treated with chemotherapy only and to identify treatment-related or sociodemography-related factors that might be associated with behavioural outcome.

Matched MeSH terms: Fathers