Dyskeratosis congenita: a case report and review of literature

Dyskeratosis congenita (DC) is classically characterised by a mucocutaneous triad of reticulated poikiloderma, nail dystrophy and mucosal leukoplakia together with bone marrow failure and increased risk of malignancy1- 4. Due to its rarity and clinical heterogeneity it is not easily recognised and patients are often treated for other entities. We report a case of dyskeratosis congenita who presented to us with the classical triad in his late twenties after years of being treated as lichen planus

Mass modeling of Malaysian varieties pomelo fruit (Citrus Grandis L. Osbeck) with some physical characteristics

Knowledge of physical characteristics of Malaysian variety pomelo fruits are necessary for the design of some post harvesting, processing systems such as cleaning, handling, grading and packaging system. For proper development of pomelo grading systems, important relationships between the mass and some physical characteristics of pomelo fruits such as length, width, thickness, surface area, projected areas and volumes must be known. The aim of this research was to measure physical characteristics of two Malaysian varieties of pomelo fruit; Ledang (PO55) and Tambun (PO52) varieties. In this study, the mass of pomelo fruit was evaluated and correlated to measure physical characteristics using Linear, Quadratic, S-curve and Power models. The results showed that the correlation of the mass of pomelo fruit with all measured physical characteristics was significant at the 0.01 probability level. In the nutshell, mass modeling of pomelo fruit for Ledang (PO55) and Tambun (PO52) varieties based on the projected area are recommended according to economical view

No association of BgII dimorphism of human renin gene in hypertensive subjects in Malaysia.

The presence of a dimorphic BglI site in the first intron of the Renin (REN) gene is an increased risk in essential hypertension. Several studies have found the association between BglI dimorphism and essential hypertension with conflicting results in various populations, which might be due to ethnic and geographical variations. The objective of this study is to determine the relationship between the BglI dimorphism of REN gene and Essential Hypertension (EHT) with or without Type 2 Diabetes Mellitus (T2DM) in Malaysian subjects. The study includes 70 EHT, 60 EHT with T2DM and 70 unrelated healthy subjects from the three ethnic groups of Malaysian Subjects. The genotype of BglI dimorphism was done by PCR-RFLP method using BglI restriction enzyme. The frequency of the BglI (+) allele was 37.86% in EHT, 40.83% in EHT with T2DM subjects and 35.71% in control subjects. The results of this study indicate that the BglI (+) allele of REN gene is not associated with essential hypertension with or without T2DM in Malaysian Subjects

Analysis of 14 genetic polymorphisms for risk factors in Malaysian essential hypertension with or without type 2 diabetes mellitus subjects

Objectives The objective of this study was to determine the association of insertion/deletion (I/D), G2350A and T3892C polymorphisms of angiotensin converting enzyme (ACE) gene, A20C and A6G polymorphism of angiotensinogen (AGT) gene, BglI and MboI polymorphisms of renin gene, I/D of alpha 2B adrenoceptor gene, Gly460Trp of aldosterone synthase gene, Lys173Arg of adducin gene, A6244G polymorphism of the insulin receptor gene, S477X polymorphism of the lipoprotein lipase gene, C511T polymorphism of the interleukin gene and C825T polymorphism of the G protein beta 3 subunit (GNβ3) gene in essential hypertension (EHT) with or without type 2 diabetes mellitus (T2DM) of Malaysian subjects. Methods This cross-sectional study includes 70 EHT without T2DM, 65 EHT with T2DM and 75 unrelated healthy control subjects. Genomic DNA was extracted from the peripheral blood. The polymerase chain reaction (PCR)-restriction fragment length polymorphism, mutagenically PCR and the hot-start PCR methods were carried out to detect the genotypes of the various genetic polymorphisms. All the PCR products and the restricted fragments were resolved electrophoretically on agarose and polyacrylamide gels. Statistical analyses was done using SPPS version 14.0. Results Among the 14 genetic polymorphisms, only I/D and G2350A polymorphism of ACE gene, I/D polymorphism of alpha adrenoceptor gene and A6G variant of AGT gene differed significantly (p0.05) when compared to control subjects. Conclusions The alleles of I/D and G2350A polymorphisms of ACE, A6G of AGT and I/D of alpha 2B adrenoceptor genes can be considered as possible genetic markers or predisposing risk factors for EHT with or without T2DM in Malaysian subjects

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

<p>Abstract</p> <p>Background</p> <p>The 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), <it>MboI </it>of renin, Gly460Trp of aldosterone synthase and Lys173Arg of adducin) of RAAS genes in Malaysian essential hypertensive and type 2 diabetic subjects.</p> <p>Methods</p> <p>RAAS 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.</p> <p>Results</p> <p>There 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, <it>MboI </it>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).</p> <p>Conclusion</p> <p>Among 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.</p

Formation of stable palm kernel oil esters nanoemulsion system containing hydrocortisone

A physical and chemically stable palm kernel oil esters emulsion system with nanosized droplet was developed as a delivery system for hydrocortisone (hydrophobic drug). A simple low energy emulsification method was used in forming the nanoemulsions. The influence of added solvents (isopropanol and ethanol) on particle size and stability of oil in water nanoemulsion was investigated. Formation of nanoemulsion with solvent, increase the solubility of hydrocortisone in the oil phase and thus make the nanoemulsion more stable. Reducing the solvent to lipoid ratio showed no significant difference in the mean particle size. However, after solvent removal particle size increased over time. As for zeta potential value, all nanoemulsions exhibited values below -30 mV which indicated good stability. The DSC thermograms for stable nanoemulsions proved that hydrocortisone is in a non-crystalline state, suggesting that hydrocortisone is homogenized well in the nanoemulsion system. These results showed that nanoemulsion with solvent appear to be a promising transdermal delivery vehicle for hydrocortisone

The psychological impact and functional disability of patients with acne vulgaris in Hospital Serdang, Malaysia: a cross sectional analysis

Acne vulgaris is not only associated with physical morbidity, but also associated with significant psychosocial disturbances, such as depression and suicide. The objective of this study was to examine the functional disability and psychological impact of acne vulgaris. Methods: A cross-sectional study of 55 acne patients, aged more than 12, was conducted in the dermatology clinic of Serdang Hospital from January to March 2017. Data on demographics, clinical features, current treatment modalities were collected. Acne severity was graded using Comprehensive Acne Severity Scale (CASS), Cardiff Acne Disability Index (CADI) was used to assess functional disability, while DASS-21 was used to assess three related states of depression, anxiety and stress. Statistical analysis was done using SPSS software. A p value ≤ 0.05 considered significant. Results: The mean age was 23.2 (14-46), majority were females (39, 70.9%), Malays (44, 80%) and students (34, 61.8%). 53 (96.4%) subjects had almost clear (CASS = 1) to moderate (CASS = 3) acne severity. Majority had facial acne with or without truncal involvement, 53 (96.3%). The average age of disease onset was 17.8 (9-45). 45 (81.8%) patients found their acne mild to moderately disabling. 69.1%, 45.8% and 41.8% reported feeling anxious, depressed and stressed out. CADI was found to be significantly related with depression (p=0.012), anxiety (p= 0.015) and stress (p=0.001). Relationship between CASS with CADI (p=0.07), stress (p=0.09), anxiety (p=0.13) and depression (p=0.12) were insignificant. Conclusion: Although acne vulgaris is not hazardous, it is associated with psychosocial disturbances. Early and effective treatments are necessary, especially when dealing with facial lesions

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 physician's 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

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

Background: 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 physician's 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. Method: The digital method uses Independent Component Analysis (ICA) to generate melanin-based images representing skin areas due to melanin followed by Region Growing process to segment vitiligo lesion from normal skin. Results: Based on 41 digital images of vitiligo lesions taken from 18 patients, the proposed method achieved sensitivities of 0.9105 ± 0.0161, specificities of 0.9973 ± 0.0009 and accuracies of 0.9901 ± 0.0028 at 95% confidence level. Conclusion: With the proposed method, physicians are able to assess vitiligo treatment efficacies objectively