Norashikin Shamsudin

Association of insertion/deletion polymorphism of angiotensin-converting enzyme gene with essential hypertension and type 2 diabetes mellitus in Malaysian subjects:

Introduction. The deletion (D) allele of the angiotensin-converting enzyme (ACE) gene has been studied in various populations in relation to hypertension (HTN) and type 2 diabetes mellitus (T2DM) with contradictory results.This study sought to determine the association of insertion (I)/D polymorphism of the ACE gene in hypertensive andT2DM subjects in a Malaysian population. Materials and methods. A total of 260 subjects consisting of 65 HTN, 60 T2DM, 65 T2DM with HTN and 70 controls were recruited. Genotyping was performed by polymerase chain reaction initially and mistyping of DD genotypes was performed with an insertion-specific primer. Results. The frequency for II, ID and DD genotypes of the ACE gene was 36.92%, 52.31% and 10.77% in HTN, 40.00%, 41.67% and 18.33% inT2DM, 30.77%, 53.85% and 15.38% inT2DM with HTN and 57.14%, 40.00% and 2.86% in controls, respectively. The frequency for the D allele was 36.92% in HTN, 39.17% in T2DM and 42.31% in T2DM with HTN compared to 22.86% in controls.The genotype and allele frequency of the ACE gene polymorphism differed significantly in patients when compared to controls (p < 0.05). Conclusion. The D allele of the ACE gene is associated with essential HTN and T2DM in Malaysian subjects.

Analysis of renin-angiotensin aldosterone system gene polymorphisms in malaysian essential hypertensive and type 2 diabetic subjects

BackgroundThe renin-angiotensin aldosterone system (RAAS) plays an important role in regulating the blood pressure and the genetic polymorphisms of RAAS genes has been extensively studied in relation to the cardiovascular diseases in various populations with conflicting results. The aim of this study was to determine the association of five genetic polymorphisms (A6G and A20C of angiotensinogen (AGT), MboI of renin, Gly460Trp of aldosterone synthase and Lys173Arg of adducin) of RAAS genes in Malaysian essential hypertensive and type 2 diabetic subjects.MethodsRAAS gene polymorphisms were determined using mutagenically separated PCR and PCR-RFLP method in a total of 270 subjects consisting of 70 hypertensive subjects without type 2 diabetes mellitus (T2DM), 60 T2DM, 65 hypertensive subjects with T2DM and 75 control subjects.ResultsThere was significant difference found in age, body mass index, systolic/diastolic blood pressure, fasting plasma glucose and high density lipoprotein cholesterol levels between the hypertensive subjects with or without T2DM and control subjects. No statistically significant differences between groups were found in the allele frequency and genotype distribution for A20C variant of AGT gene, MboI of renin, Gly460Trp of aldosterone and Lys173Arg of adducin (p > 0.05). However, the results for A6G of AGT gene revealed significant differences in allele and genotype frequencies in essential hypertension with or without T2DM (p < 0.001).ConclusionAmong the five polymorphisms of RAAS genes only A6G variant of AGT gene was significantly associated in Malaysian essential hypertensive and type 2 diabetic subjects. Therefore, A6G polymorphism of the AGT gene could be a potential genetic marker for increased susceptibility to essential hypertension with or without T2DMin Malaysian subjects.

Computerised image analysis of vitiligo lesion: evaluation using manually defined lesion areas

Vitiligo is a cutaneous pigmentary disorder characterized by depigmented macules and patches that result from loss of epidermal melanocytes. Physician evaluates the efficacy of treatment by comparing the extent of vitiligo lesions before and after treatment based on the overall visual impression of the treatment response. This method is called the physicians global assessment (PGA) which is subjective. In this article, we present an innovative digital image processing method to determine vitiligo lesion area in an objective manner.

Melanin determination using optimised inverse Monte Carlo for skin — Light interaction

Abnormality of melanin production causes skin pigmentation disorders. Many simulation models of light interaction with human skin have been reported. The most accurate skin model is based on Monte Carlo approach. An inverse model is used to derive optical properties of skin by fitting the spectral reflectance obtained from the model of light interaction to the actual spectral reflectance obtained from empirical data. Currently there is no an inverse Monte Carlo model which is designed to analyse skin chromophores especially melanin type and its concentration. In this paper, a development of an inverse Monte Carlo model to analyse skin pigmentation model is presented. The inverse model is first validated with 37 spectral reflectance data obtained from normal participants. An observational clinical study involving 11 melasma patients is then conducted. As expected, result shows that the concentrations of eumelanin and pheomelanin of all melasma lesions are higher than concentration of eumelanin and pheomelanin of normal skin, resulting in higher light photon absorption. It can be inferred that the developed inverse model is able to determine relative concentrations of eumelanin and pheomelanin.

Objective assessment of vitiligo with a computerised digital imaging analysis system.

An objective tool to quantify treatment response in vitiligo is currently lacking. This study aimed to objectively evaluate the treatment response in vitiligo by using a computerised digital imaging analysis system (C‐DIAS) and to compare it with the physicians global assessment (PGA). Tacrolimus ointment 0.1% (Protopic; Astellas Pharma Tech,Toyama, Japan) was applied twice daily on selected lesions which were photographed every 6 weeks for 24 weeks. The primary efficacy end‐point was the mean percentage of repigmentation (MPR), as assessed by the digital method (MPR‐C‐DIAS) or by the PGA. The response was categorised into none (0%), mild (1–25%), moderate (26–50%), good (51–75%) and excellent (76–100%). MPR‐C‐DIAS: Out of 56 patients, 44 (79%) responded. Overall, the response was mild in 22 (39%), moderate in 21(40%) and good in one (2%) patient(s). A total of 39 (70%) patients responded as measured by PGA. The repigmentation was mild in 27(48%), moderate in 10 (18%) and good to excellent in two (4%) patients. The κ test of consistency was 0.17 (P = 0.053), which shows poor agreement between the two assessment methods, although this is not statistically significant. The C‐DIAS can be used to perform an objective analysis of repigmentation or depigmentation in vitiligo skin lesions in response to treatment.

Nodular hidradenoma arising on the site of a BCG scar

Hidradenomas are tumours that arise from the adnexal structures, both eccrine and apocrine and are histologically benign. The tumours that arise from eccrine differentiation are known as poroid hidradenomas and when they arise from the apocrine glands they are called nodular hidradenomas. In our centre a 13‐year‐old boy presented with a slow‐growing, painless erythematous fungating nodule on the left upper arm over a period of 18 months at the site of the BCG vaccination. The nodule was surgically excised and sent for histopathological examination, leading to a diagnosis of nodular hidradenoma. This case is presented to highlight its rarity, together with its clinical features that were suggestive of malignancy but proved ultimately to be benign.

IMAGES IN CLINICAL MEDICINE. Nevus Comedonicus.

A 19-year-old man presented with a congenital skin lesion on the left clavicular region (Panel A), with closely arranged, dilated follicular openings with keratinous plugs resembling classic comedones (Panel B). These openings were distributed linearly along the left clavicle and extending to the upper back, with a subtle background dyspigmentation that lacked a distinct pattern. There were no associated neurologic or skeletal abnormalities. Nevus comedonicus, a hamartoma of the pilosebaceous unit, is present at birth or develops in early childhood. It is usually asymptomatic with a predilection for the face, neck, chest, and upper arms, and growth is accelerated during puberty. The condition may be complicated by inflammation or secondary infection and can be associated with skeletal or central nervous system anomalies and cataracts in the context of the nevus comedonicus syndrome. Histopathological findings on skin biopsy typically show large, grouped, dilated follicular ostia filled with keratin but devoid of hair shafts. Treatment options include topical therapy, laser treatment, and surgery. This patient declined further intervention and continues to be monitored in the clinic.