Biomedical subjects
Publications and source records attributed to S Afsar.
A 60-year-old woman with thick crusted erythematous plaques on her glabella, apex nasi and left infraorbital region was diagnosed as recidivans cutaneous leishmaniasis. The lesions were resistant to antimonial drugs. Although some response was observed on the infraorbital region, lesions on the glabella and nose continued to infiltrate despite therapy with liposomal amphotericin B.
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder of lipid storage with prominent neurologic features. The disease is associated with mutations in CYP27, which encodes mitochondrial sterol 27-hydroxylase, an enzyme that catalyzes the oxidation of sterol intermediates during bile acid synthesis. The loss of this enzyme results in accumulation of cholestanol in the nervous system and other tissues. Six different mutations have been previously described in CTX. We analyzed a Pakistani family, which included four affected individuals with clinical characteristics of CTX, for mutations in CYP27. The exons of CYP27 in the family DNA were amplified by polymerase chain reaction (PCR) and analyzed for mutations by band shifts (single stranded conformational polymorphism [SSCP]) and DNA sequencing. The PCR product for exon 4 showed an SSCP change in this family. The DNA of affected individuals showed an abnormal mobility pattern interpreted as homozygous for the mutation. One non-affected sibling was homozygous for the normal migrating pattern, whereas the parents and another non-affected sibling were heterozygous. The sequence of exon 4 of affected individuals showed a substitution of C to T in codon 237, thus substituting arginine to a stop codon. This mutation would terminate the translation, which may result in a protein half the size of the wild type rendering it practically inactive.
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A prospective study was performed to detect oxygen saturation (SaO2) during and following fiberoptic bronchoscopy (FOB) in 50 patients. Twenty-five patients (group 1) underwent the procedure without and 25 (group 2) with supplemental oxygen. The SaO2 declined from the baseline value of 96.4% to 92.08% in group 1 and to 94.88% in group 2 after bronchoscopy alone. The decline was also noted when biopsy and broncho-alveolar lavage (BAL) were performed, the lowest values being recorded during BAL. The result showed that the fall in SaO2 in group 2 was significantly less than that in group 1 (P < 0.05). SaO2 returned to baseline values after a mean time of 4.9 minutes in group 1 and 2.4 minutes in group 2, demonstrating the benefit of supplemental oxygen.
It is not known whether the pattern of psychiatric disorders in medical outpatients in Pakistan is similar to that observed in the West. Consecutive medical outpatients completed the Self-Report Questionnaire (SRQ) to detect probable psychiatric disorder. The usual cut-off score of 8/9 was used. One-thousand and sixty-nine patients completed the SRQ (84% response rate) at four half-day clinics. Sixteen percent of men and 58% of women presented with medically unexplained symptoms. In men, 80% of patients with medically unexplained symptoms had an SRQ score of 9 or above (probable depressive disorder) compared to 40% of those with symptoms caused by recognized physical illness (P<.0005). In women, the respective proportions were 55.4% and 49.6% (P=.34). Depressive disorder is probably very common in medical outpatients in Pakistan, especially in men with medically unexplained symptoms. Systematic attempts to initiate antidepressant treatment in this setting should be attempted.
Enoxacin 400 mg twice daily was given orally to 40 patients who had Salmonella typhi- or Salmonella paratyphi-positive blood or bone marrow cultures. One patient was switched to parenteral therapy within 48 hours of study enrollment, but the remaining 39 patients were given enoxacin for 10 to 14 days. All 39 patients were cured by enoxacin, even though 23 (58.9%) strains were resistant to cotrimoxazole and 16 (41%) strains were multiply resistant to ampicillin, chloramphenicol, and cotrimoxazole. No adverse events necessitated the interruption of therapy. In this study, enoxacin was well tolerated and efficacious in the treatment of typhoid fever.