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Biomedical subjects

M Ali

Publications and source records attributed to M Ali.

At least 37 records · Page 2Linked to original sources
PubMed2005

Mutation and polymorphism analysis of TSC1 and TSC2 genes in Indian patients with tuberous sclerosis complex.

OBJECTIVE: To find the mutation and polymorphism spectrum of TSC1 and TSC2 genes in patients affected with tuberous sclerosis complex from the Indian population. MATERIAL AND METHODS: All coding exons and promoter regions of both TSC genes were screened for mutations and polymorphisms in 24 TSC families using polymerase chain reaction-single strand conformation polymorphism and DNA sequencing techniques. RESULTS: A single previously known mutation, c.2111_2112delAT was identified in the TSC1 gene. A total of 11 mutations were identified in the TSC2 gene. Of these, seven mutations, c.137_138delGA, c.2070delC, c.2087_2088insAA, c.3080T>C (p.L1027P), c.648+1G>A, c.3131+1G>A and c.5034C>G were novel. The remaining four mutations, c.4544_4547delACAA, c.1941_1942insT, c.1831C>T (p.R611W) and c.1832G>A (p.R611Q) had been reported previously in other populations. The novel mutation, c.137_138delGA was predicted to result in the production of a very small tuberin protein of 64 amino acids lacking all seven functional domains. In addition, we also detected three and 10 polymorphisms in the TSC1 and TSC2 genes respectively. DNA sequence analysis of promoter regions of both TSC genes in 24 families did not show any variation. CONCLUSIONS: This is the first molecular genetic study of TSC in an Indian population. A total of 12 mutations were detected in 24 Indian TSC families in TSC genes. All except one mutation were detected in the TSC2 gene. No variation was found in the promoter regions of either gene. As observed in the western and Japanese populations, the mutations were scattered across the TSC2 gene.

Amino Acid Sequence↗
PubMed2005

Application of an improved method for the recombinant k 39 enzyme-linked immunosorbent assay to detect visceral leishmaniasis disease and infection in Bangladesh.

Several serology-based immunoassays are used to diagnose visceral leishmaniasis (VL), a chronic protozoan parasitic disease caused by the Leishmania donovani complex. These tests are primarily designed to diagnose the most severe clinical form of VL, known as kala-azar. However, leishmanial infection is frequently asymptomatic and may manifest only as a positive serologic response or positive leishmanin skin test. We modified a previously described enzyme-linked immunosorbent assay (ELISA) that detects patient antibodies reactive with the recombinant Leishmania protein K39 (rK39) to confirm suspected kala-azar and to detect asymptomatic infection in a community study in Bangladesh. With the inclusion of a standard curve on each ELISA plate, the rK39 ELISA was more repeatable (kappa coefficient of agreement=0.970) and more reliable compared to the original method (kappa=0.587, P<0.001). The cutoff point for a positive antibody response was chosen based on the 99th percentile of the ELISA distribution for the negative-control sera. However, we found that sera from all patients with active kala-azar yielded values more than twice the magnitude of this cutoff. Using receiver-operator characteristic curves, we determined a second cutoff value predictive of kala-azar. Using these criteria, the sensitivity and specificity of the modified ELISA for kala-azar were 97.0% and 98.9%, respectively, for sera from our study population. We hypothesize that individuals with antibody levels greater than the 99th percentile of the negative controls but less than the cutoff point for kala-azar have asymptomatic leishmanial infections.

Animals↗
PubMed2005

Socio-economic status of chronic arsenicosis patients in Bangladesh.

The study showed that the maximum number of arsenicosis patients (71%) belonged to low income group and 29% belong to middle class income group but none was found in high income group and all these patients were from rural areas of the country. Majority of all these patients was related with the traditional occupation of the country like cultivation (53%) in addition to lower level of educational background (81.5%). Most of the patients of chronic arsenicosis were suffering from malnutrition (91%). The present study which reflects that the vast majority of patients of chronic arsenicosis in the country belonged to low income group, but also to low educational background and individuals, who had been suffering from malnutrition, needs a special consideration in the management of the problem. Emphasis has been given to have access to arsenic-free water and protein rich diet to people of arsenic affected areas.

Adult↗
PubMed2005

New compounds from the seeds of Embelia ribes Burm.

Phytochemical investigation of the seeds of Embelia ribes Burm. resulted in the isolation of three new compounds identified as 3-(4"-hydroxyoctadecanyloxy)-p-quinonyl-5-methylene-8-(10-pentanyloxy)-p-quinone (embelinol) (1), n-pentacosanyl-n-nonadeca-7'-en-9'-alpha-ol-1'-oate (embeliaribyl ester) (2) and 1,2,4,5-tetrahydroxy 3-undecanyl benzene (embeliol) (3) along with the known compound 2,5-dihydroxy-3-undecyl-2,5-cyclohexadiene-1,4-dione (embelin) (4). Their structures have been established on the basis of spectral data analyses and chemical reactions.

Chromatography, Thin Layer↗
PubMed2004

Congenital glaucoma and brain stem atrophy as features of Aicardi-Goutières syndrome.

We report on three children from two families with Aicardi-Goutières syndrome. All three had congenital glaucoma. Additionally, neuroimaging demonstrated significant brain stem atrophy in the affected sib-pair. These features have not been previously described in Aicardi-Goutières syndrome and expand the phenotypic spectrum.

Abnormalities, Multiple↗
PubMed2004

Anatomy of the pelvic plexus and innervation of the prostate gland.

We have examined the anatomy of the pelvic (inferior hypogastric) plexus in six male cadavers, paying particular attention to gross anatomical landmarks that might aid in locating it and have used immunohistochemistry to study the small branches of the plexus that supply the prostate gland. The pelvic plexus was found two finger breadths lateral to the third anterior sacral foramina, lying deep to a line drawn from third sacral vertebra, the conventional level of the recto-sigmoid junction, and the palpable posterior superior surface of the pubic symphysis. Immunohistochemical staining showed small nerve branches from the pelvic plexus entering the prostate gland and the presence of ganglia within the prostate gland that contained both tyrosine hydroxylase positive and negative neuronal cell bodies. This information may be useful in nerve-sparing surgical procedures and in discussions of the functional implications of perturbations of prostate innervation.

Aged↗
PubMed2004

Fly ash leachate induces oxidative stress in freshwater fish Channa punctata (Bloch).

Oxidative stress inducing potential of fly ash leachate (FAL) was studied in a freshwater fish, Channa punctata (Bloch). Fish were exposed to fly ash leachate for 24 h and lipid peroxidation (LPO) was studied as a marker of oxidative stress. Catalase (CAT), glutathione S-transferase (GST) activities and levels of reduced glutathione (GSH) were also estimated in the exposed fish. FAL (1 ml/l) induced LPO in all the organs and most prominent response was in the gill. It also caused induction of enzymes and glutathione. Liver showed highest level of induction of enzyme activities. The results of this study demonstrate that fly ash constituents have potential to induce oxidative stress in fish and gills are the most vulnerable organs. It is also suggested that in case of exposure to FAL, along with LPO antioxidant defense is also activated to counteract the reactive oxygen species (ROS) at least partly in the initial stages of exposure.

Analysis of Variance↗
PubMed2004

Antifungal potential of Indian medicinal plants.

Fourteen Indian plants, selected based on their use in respiratory and other disorders in traditional systems of medicine, were analyzed for their potential activity against fungi. The antifungal activity was investigated by disc diffusion, microbroth dilution and percent spore germination inhibition tests against pathogenic Aspergilli. Methanolic extracts of Solanum xanthocarpum and Datura metel inhibited the growth of Aspergillus fumigatus, A. flavus and A. niger and their in vitro MICs were found to be 1.25-2.50 mg/ml by both microbroth dilution and percent spore germination assays. In disc diffusion assay, a concentration of 0.062 mg/disc of methanol extract of D. metel showed significant activity against Aspergilli. S. xanthocarpum exhibited similar activity at 0.125 mg/disc.

Antifungal Agents↗
PubMed2004

Men and reproductive health in rural Pakistan: the case for increased male participation.

OBJECTIVES: In Pakistan, the role of men has always been considered to dominate in the decision-making process pertaining to women's fertility and birth spacing. This study was done to explore men's knowledge, perceptions and behavior on various reproductive health issues. METHODS: A cross-sectional survey was carried out among 180 married adult males in 12 rural districts of Pakistan in 2000. The study was qualitative, utilizing tools such as in-depth and key-informant interviews. RESULTS: The findings pointed out gaps in knowledge and misconceptions among men on a range of reproductive health issues and stress the need for health education. The findings suggest that strategies such as couple counseling, door-to-door campaigns by village-based male family planning workers and small group meetings could be effective. This study indicates a pressing need for incorporating effective intervention strategies, both at the community and the clinic level, backed with efficient counseling, motivation, and provision of services with appropriate education of males in rural areas. CONCLUSION: The findings suggest that investment into promotion of healthy fertility control practices among men will be effective in the near future, as they are interested in acquiring new knowledge and are willing to become partners.

Adult↗
PubMed2004

Comparison of the OptiMAL rapid antigen test with field microscopy for the detection of Plasmodium vivax and P. falciparum: considerations for the application of the rapid test in Afghanistan.

To establish the sensitivity and specificity of a batch of 'OptiMAL 48' rapid antigen tests procured by the World Health Organization in Afghanistan, a sample was tested, in parallel with routine, microscopical diagnosis, at basic health units (BHU) within Afghan refugee camps in Pakistan. The results of both methods of field diagnosis were compared with those of cross-checking microscopy at a reference laboratory, which were taken as the 'gold standard'. Out of 499 patients examined, 36% were diagnosed as malaria cases by field microscopy and 34% by the rapid test. For the OptiMAL 48 test, cross-checking of the corresponding smears at the reference laboratory gave a sensitivity of 79.3% and a specificity of 99.7% for Plasmodium falciparum and corresponding values of 86.1% and 98.7% for P. vivax infections. The performance of the field microscopy was better, with a sensitivity and specificity of 85.2% and 99.7% for P. falciparum, and 90.4% and 98.7% for P. vivax, respectively. These results show that the performance of OptiMAL 48 is adequate for acute- and post-emergency situations when the alternative is just clinical diagnosis. However, in the developing health system of Afghanistan, the main focus should be on the expansion of the existing network for microscopical diagnosis and quality control, to meet the needs of a stable situation. Rapid antigen tests are more suited to investigations of outbreaks in remote situations, where health services are deficient or absent.

Afghanistan↗
PubMed2004

Coronary artery diameter in a cohort of adult Pakistani population.

OBJECTIVE: To study the diameter of coronary arteries in a cohort of adult Pakistani population and to compare these with the diameters of Caucasians mentioned in the literature. METHODS: A study of 220 adult patients referred to National Institute of Cardiovascular Disease (NICVD) for diagnostic coronary angiography between May 2000 to December 2000. RESULTS: The mean diameter of Right Coronary Artery (RCA) was found to be 3.08 + 0.78 mm with a 95% CI of 2.9 - 3.2, and of Left Main Coronary Artery (LMCA), 4.28 +/- 0.82 with a 95% CI of 4.2 - 4.4. While the mean diameter of Left Anterior Descending Artery (LAD) was 3.22 +/- 0.74 with a 95% CI of 3.1 - 3.33, and that of the Circumflex Artery (CX) 3.02 + 0.75 with a 95% CI 2.9 - 3.1. The total coronary area (TCA), diameter of three vessels was 9.32 + 1.68 with a 95% CI of 9.1 - 9.5, while the sum of 4 vessels diameter was 13.6 + 2.26 with a 95% CI of 13.3 - 13.9. CONCLUSION: The diameters of coronary arteries of Pakistani population are not significantly different from that of Caucasians and the cause of increased mortality in the people of South Asians origin seems to be other than the diameter of coronary arteries.

Adult↗
PubMed2004

A novel antifungal pyrrole derivative from Datura metel leaves.

Phytochemical investigation of the leaves of Datura metel Linn. led to the isolation of a new pyrrole derivative 1 which was characterised as 2beta-(3,4-dimethyl-2,5-dihydro-1H-pyrrol-2-yl)-1'-methylethyl pentanoate on the basis of spectral data analyses and chemical reactions. Compound 1 was endowed with antifungal activity and its MIC was found to be 87.5 microg/ml. Two proteins having molecular weights of 42 and 58 kD of Aspergillus fumigatus are potential targets for compound 1.

Antifungal Agents↗
PubMed2004

Factors influencing the results of surgery for hypospadias: experience at NICH.

OBJECTIVE: To evaluate the factors that may influence the results of surgery after hypospadias repair at National Institute of Child Health, Karachi. METHODS: It was a retrospective observational study. Files of all patients who had Hypospadias repair were retrieved and analysed with a view to identify the factors which may influence the results of surgery for Hypospadias. Patients with complete record available were included in the study, whereas those with incomplete data were excluded. For most patients who had penile or distal hypospadias TIP (Tubularised Incised Plate) urethroplasty was performed. Patients with severe chordee had Duckett Island flap urethroplasty as a two stage procedure. Patients having moderate chordee were subjected to the Mustardee Procedure. Some underwent MAGPI and Mathieu's repairs. RESULTS: One hundred four patients were operated. Files of only 46 patients with a mean age of 4 years could be retrieved and these were included in the study. Twenty five patients had TIP urethroplasty, 5 had island flap urethroplasty, 2 had Mustardee repair, 6 had MAGPI, 5 had Mathew's repair and 3 had Byers Staged Urethroplasty. Over all incidence of fistula formation was 26%. The frequency of fistula formation was less with TIP urethroplasty (16%) compared to those who received no dartos pedicle flap. Mathieu's repair gave good results with 20% incidence of fistula formation. Highest numbers of complications (60%) were seen in patients who had Island flap urethroplasty for proximal hypospadias with chordee. CONCLUSION: TIP urethroplasty is a safe and reliable method of hypospadias repair. The results of surgery can however be improved by using dartos pedicle flap to protect the repair, meticulous surgical techniques, use of monofilamentous absorbable suture material and soft waterproof dressing.

Child↗