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Biomedical subjects

M Rahim

Publications and source records attributed to M Rahim.

7 recordsLinked to original sources
PubMed2001

Leber's congenital amaurosis with anterior keratoconus in Pakistani families is caused by the Trp278X mutation in the AIPL1 gene on 17p.

BACKGROUND: Leber's congenital amaurosis (LCA) represents the earliest and severest form of retinal dystrophy leading to congenital blindness. A total of 20% of children attending blind schools have this disease. LCA has a multigenic basis and is proving central to our understanding of the development of the retina. We describe the clinical and molecular genetic features of four inbred pedigrees from neighbouring remote villages in northern Pakistan, in which some of the affected members have concurrent keratoconus. METHODS: History-taking and physical and eye examinations were performed in the field. Venipuncture, DNA extraction, studies of linkage to known LCA genes, automated sequencing and polymorphism analyses for haplotype assessments were done. RESULTS: We examined 12 affected and 15 unaffected family members. By history, there were an additional nine blind people in the four pedigrees. In each pedigree a consanguineous marriage was evident. We found a homozygous nonsense mutation in the AIPL1 gene, which replaces a tryptophan with a stop codon (Trp278X). The phenotype is severe and variable, despite the common molecular genetic etiology in each family. Affected patients had hand motion to no light perception vision and fundus findings ranging from maculopathy to diffuse pigmentary retinopathy. Three affected members had definite keratoconus, and two were suspects based on mild cone formation in the cornea of at least one eye. INTERPRETATION: We have identified four Pakistani families with a severe form of LCA that is associated with severe keratoconus in some affected members. The molecular etiology in all four families is a homozygous nonsense mutation, Trp278X, in the photoreceptor-pineal gene AIPL1. To our knowledge, this is one of the first phenotype-genotype correlations of AIPL1-associated LCA.

Adaptor Proteins, Signal Transducing↗
PubMed2001

Occlusive versus nonocclusive calcipotriol ointment treatment for palmoplantar psoriasis.

Thirty-nine patients with a clinical diagnosis of palmoplantar psoriasis [23 (58%) males and 16 (42%) females] were included in this study with the aim of evaluating the efficacy of occlusive calcipotriol 50 micrograms/mg ointment vs. nonocclusive therapy. Patients were randomized to either twice-weekly overnight calcipotriol ointment under occlusion or twice-daily topical nonocclusive application of the same ointment for 6 weeks. The effect of treatment was assessed on the basis of a psoriasis signs score for erythema, thickness and scaliness, which was graded from 0 (absent) to 4 (most severe) at the first visit, after 2 weeks and at the end of treatment. Analysis of our results showed that twice-weekly occlusive calcipotriol ointment was as effective as the twice-daily application. The mean total score at baseline was 6 for the occlusive group and 6.1 for the nonocclusive group. The score decreased to 1.5 in both groups at the end of treatment. No significant adverse effects were reported by patients or investigators. We conclude that occlusive calcipotriol ointment is effective in the treatment of palmoplantar psoriasis and may produce even better results with more frequent use, such as application on alternate days.

Administration, Topical↗
PubMed2000

Scalp psoriasis: topical calcipotriol 50 micrograms/g/ml solution vs. betamethasone valerate 1% lotion.

Forty-two patients aged between 6 and 61 years (mean: 33.5 years) with psoriasis of the scalp were enrolled in this study. Twenty-seven patients (69%) were males and 15 (31%) were females. The aim of our study was to evaluate the efficacy, safety and tolerability of topical calcipotriol 50 micrograms/g/ml solution vs. betamethasone valerate 1% lotion in the treatment of psoriasis of the scalp. The study was randomized with the twice-daily application of either calcipotriol solution or betamethasone valerate lotion for 6 weeks. Treatment evaluation was clinically based on signs of psoriasis (thickness, redness, scaliness) which were scored from 0 = absent to 4 = severest possible involvement and was performed at the start of treatment and at weeks 2 and 6 of treatment. The results showed a marked improvement and clearance at the end of treatment in 15 (72.8%) of the 24 patients in the calcipotriol group and in 13 of the 18 patients (72%) in the betamethasone group. The mean total sign score at baseline was 5.1 in the calcipotriol group and 5.4 in the betamethasone valerate group. At the end of treatment, this score was decreased to 2.1 and 1.49, respectively. No significant adverse effects were reported in either group except in two patients (8.3%) in the calcipotriol group who developed signs of irritation including itching and erythema. In conclusion, both drugs were effective and well tolerated in the treatment of scalp psoriasis but in some patients calcipotriol had to be given for more prolonged courses.

Administration, Topical↗
PubMed1985

Control of energy production in the heart: a new function for fatty acid binding protein.

The quantitative subcellular distribution of the fatty acid binding protein (FABP) in heart muscle is reported for the first time. A gradient-like distribution according to the following pattern was observed: 6.96 mg X mL-1 on the myofibrils, 2.77 mg X mL-1 in the spaces surrounding the mitochondria, and 2.21 mg X mL-1 in the mitochondria. This heterogeneous distribution suggests that the local in vivo concentration of FABP might fluctuate as a function of time. The consequences of these possible fluctuations, particularly in the mitochondrial vicinity, were analyzed in an in vitro system containing a fixed concentration of cardiac mitochondria and stearic acid but variable concentrations of FABP. Competition for the fatty acid was observed between the mitochondrial membranes and the binding sites on the protein. Maximal binding of fatty acid to FABP was detected in the range of FABP concentration between 1 and 3 mg X mL-1. Remarkably, in this concentration range, two emerging peaks of beta-oxidative activity were also detected. As a major conclusion, it appears that the fatty acid pool, bound to FABP, is the source of fatty acid providing the beta-oxidative system with substrate. The mechanism of fatty acid transfer from this pool toward the beta-oxidative system remains an open question. However, it is suggested that a gradient-like distribution of FABP in the mitochondrial vicinity leads to the coexistence of multispecies of the protein by self-aggregation. Only two of these species seem to be involved in this fatty acid transfer. As a consequence, a strong modulation of fatty acid beta-oxidation rate is observed in isolated mitochondria when the concentrations of these two species are allowed to fluctuate. In conclusion, this unique cardiac fatty acid carrier, via its self-aggregation capacity and its in vivo gradient-like distribution, may act as a powerful effector in the regulation of heart energy.

Animals↗
PubMedDate not supplied

Health Workers for Change: a tool for promoting behaviour change among health providers.

Sensitizing health providers to customers' needs and women's health remains a challenge to the Pakistani health system. The Health Workers for Change methodology has been demonstrated to improve provider-client relationships in certain African and Latin American countries. This paper describes the experience of using Health Workers for Change participatory workshops in Pakistan to sensitize male and female health providers to gender issues. Health care providers identified the unmet needs of women clients as a function of individual, household and societal factors, and, unlike the African experience with this tool, not predominantly confined to factors associated with the health facility.

Attitude of Health Personnel↗