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Deletion analyses of SMN1 and NAIP genes in Malaysian spinal muscular atrophy patients

Watihayati MS, Zabidi-Hussin AM, Tang TH, Matsuo M, Nishio H, Zilfalil BA

Pediatr Int, 2007 Feb;49(1):11-4.
PMID: 17250498

The survival motor neuron 1 (SMN1) gene has been recognized to be responsible for spinal muscular atrophy (SMA) because it is homozygously deleted in more than 90% of SMA patients, irrespective of their clinical severity, whereas the neuronal apoptosis inhibitory protein (NAIP) gene is now considered to be a modifying factor of the severity of SMA. In Malaysia, it remains to be elucidated whether deletion of the SMN1 gene is also a main cause of SMA or whether deletion of the NAIP gene is found in the SMA patients.
Effects of vitamin D supplementation on endothelial function: a systematic review and meta-analysis of randomised clinical trials

Hussin AM, Ashor AW, Schoenmakers I, Hill T, Mathers JC, Siervo M

Eur J Nutr, 2017 Apr;56(3):1095-1104.
PMID: 26848580 DOI: 10.1007/s00394-016-1159-3

BACKGROUND: In addition to regulating calcium homoeostasis and bone health, vitamin D influences vascular and metabolic processes including endothelial function (EF) and insulin signalling. This systematic review and meta-analysis of randomised clinical trials (RCTs) were conducted to investigate the effect of vitamin D supplementation on EF and to examine whether the effect size was modified by health status, study duration, dose, route of vitamin D administration, vitamin D status (baseline and post-intervention), body mass index (BMI), age and type of vitamin D.
METHODS: We searched the Medline, Embase, Cochrane Library and Scopus databases from inception until March 2015 for studies meeting the following criteria: (1) RCT with adult participants, (2) vitamin D administration alone, (3) studies that quantified EF using commonly applied methods including ultrasound, plethysmography, applanation tonometry and laser Doppler.
RESULTS: Sixteen articles reporting data for 1177 participants were included. Study duration ranged from 4 to 52 weeks. The effect of vitamin D on EF was not significant (SMD: 0.08, 95 % CI -0.06, 0.22, p = 0.28). Subgroup analysis showed a significant improvement of EF in diabetic subjects (SMD: 0.31, 95 % CI 0.05, 0.57, p = 0.02). A non-significant trend was found for diastolic blood pressure (β = 0.02; p = 0.07) and BMI (β = 0.05; p = 0.06).
CONCLUSIONS: Vitamin D supplementation did not improve EF. The significant effect of vitamin D in diabetics and a tendency for an association with BMI may indicate a role of excess adiposity and insulin resistance in modulating the effects of vitamin D on vascular function. This remains to be tested in future studies.
Fulltext Computed tomography perfusion of ischaemic stroke patients in a rural Malaysian tertiary referral centre

Man K, Kareem AM, Ahmad Alias NA, Shuaib IL, Tharakan J, Abdullah JM, et al.

Singapore Med J, 2006 Mar;47(3):194-7.
PMID: 16518552

Computed tomography (CT) perfusion is a new method to diagnose ischaemic stroke especially in developing countries. It identifies the area and is useful to predict the size of final infarction. The aim of this study was to assess cerebral ischaemia with CT perfusion (CTP) among patients with acute ischaemic stroke in Hospital Universiti Sains Malaysia, a tertiary referral centre in a rural setting.
Associations between Aging and Vitamin D Status with Whole-Body Nitric Oxide Production and Markers of Endothelial Function

Siervo M, Hussin AM, Calella P, Ashor A, Shannon OM, Mendes I, et al.

J Nutr, 2024 Feb;154(2):469-478.
PMID: 38048992 DOI: 10.1016/j.tjnut.2023.12.002

BACKGROUND: Aging and vitamin D deficiency have been associated with reduced nitric oxide (NO) synthesis and impaired endothelial function (EF) but the evidence in humans remains weak.
OBJECTIVES: Two independent cross-sectional studies were designed to evaluate the association between age, sex, and plasma vitamin D concentrations with physiological and biochemical biomarkers of NO synthesis and EF in young and older healthy participants (Study 1) and in overweight and obese postmenopausal females (Study 2).
METHODS: In Study 1, 40 young (20-49 y) and older (50-75 y) males and females (10 participants per age and sex group) were included. Resting blood pressure and ear-to-finger peripheral pulse wave velocity (PWV) were measured. A stable-isotopic method was used to determine whole-body NO production. Plasma 25-hydroxyvitamin D (25(OH)D), nitrate, nitrite, and asymmetric dimethylarginine (ADMA) concentrations were determined. In Study 2, 80 older overweight and obese females (age 61.2 ± 6.2 y, body mass index 29.5 ± 4.4 kg/m2) were recruited. Postocclusion reactive hyperemia (PORH) and peripheral PWV were measured. Plasma concentrations of 25(OH)D, nitrate, cyclic guanosine monophosphate, 3-nitrotyrosine (3-NT), endothelin-1, vascular endothelial growth factor, and ADMA were determined.
RESULTS: In Study 1, whole-body NO production was significantly greater in young compared with older participants (0.61 ± 0.30 μmol·h-1·kg-1 compared with 0.39 ± 0.10 μmol·h-1·kg-1, P = 0.01) but there was no evidence of a sex difference (P = 0.81). Plasma 25(OH)D concentration was not associated with PWV (r = 0.18, P = 0.28) or whole-body NO production (r = -0.20, P = 0.22). Plasma ADMA concentration was associated positively with age (r = 0.35, P = 0.03) and negatively with whole-body NO production (r = -0.33, P = 0.04). In Study 2, age was associated with lower PORH (r = -0.28, P = 0.02) and greater ADMA concentrations (r = 0.22, P = 0.04). Plasma 25(OH)D concentration was inversely associated with 3-NT concentrations (r = -0.31, P = 0.004).
CONCLUSIONS: Older age was associated with lower whole-body NO production. Plasma vitamin D concentrations were not associated with NO production or markers of EF but showed a weak, significant correlation with oxidative stress in postmenopausal overweight females.
National response to neurological diseases in Malaysia: planning for the future

Abdullah JM, Hussin AM, Tharakan J, Abdullah MR, Saad R, Kamari Z, et al.

Southeast Asian J Trop Med Public Health, 2006 Jul;37(4):798-805.
PMID: 17121309

The number of cases of neurological disease is expected to rise in the next 10 years, making this the second leading cause of morbidity and mortality after heart disease in Malaysia. The lack of human resources in the neurological field currently serving the Malaysian population may cause a deficiency in specialized care, especially in rural areas where neurological and neurosurgical care may be lacking. Thus, a resolve was made to increase the numbers of specialists by the Universiti Sains Malaysia (USM) with the help of the Ministry of Health of Malaysia. A study was made to evaluate the number of referral centers needed in strategic parts of Malaysia. Our calculation was based on service demands and operative procedures following the guidelines of the Association of British Neurologists (ABN) where 15 minutes of service time was equivalent to 1 unit. Based on 2 million population covered in the state of Kelantan by this University Hospital, 4.27 neurologists are needed to meet service demands with a consultant to population ratio (CPR) of 1:468,384, compared to 7.46 neurosurgeons, with a CPR of 1:268,097. According to the current service demands, one neurologist has to work more than 407 hours per year and one neurosurgeon 1,219 hours per year in our hospital. Hospitals with a larger catchment area would need to have more neurologists and neurosurgeons for optimal care in their area. Thus, more neurologists and neurosurgeons are needed to be produced, since the existing numbers are too small for quality care in Malaysia.