Phenotypes of Alpha 1 Antitrypsin in Karachi, Pakistan

Objective: To determine serum level of the protease inhibitor, to identify phenotypes and determine their frequencies. Study Design: A prospective study. Setting: PMRC Research Centre, JPMC and the Aga Khan University Hospital Karachi. Subjects: Healthy aduIts without history ol peptic ulcer disease and a normal endoscopy. Methodology: Quantitive measurement of serum alpha 1 AT was carried out by radial immunodiffusion. phenotyping by iso-electric focusing and confirmation of phenotypes by immunofixation and DNA analysis technique. Results:Serum alpha I AT was low in 13.4% of the subjects. Ni MM phenotype predominated followed by SZ SS, MZ and ZZ. DNA diagnosis accurately resolved the phenotypes as S and Z. Conclusion: Frequency by phenotype associated with total and intermediate deficiency is less in the populatio

Genetic Variants of Serum Alpha 1 Antitrypsin

Complete absence of data on alpha 1 antitrypsin in this country prompted us to determine serum levels using radial immunodiffusion (RID) and phenotypes by isoelectric focusing (IEF) in 100 healthy adults (52 males and 48 females). Mean serum alpha 1 antitrypsin concentration in healthy subjects was 2.47±0.08 g/l and the main phenotypes MM (70%), M1 M2 (28%) and FM 3(2%) are infrequent in our population (JPMA 45:245,1995)

Genetic Markers and Duodenal Ulcer

Serum pepsinogen, ui-antitrypsin (ui-AT) and blood groups were studied as genetic markets in 32 patients with endoscopically proven duodenal ulcer and 44 control subjects with no family history of ulcer disease. Serum pepsinogen was detennined by the modified method of Edward et al7, a1-AT by single radial hnmunodiffusion8 (RID) and phenotyping was carried out by isoelectric focusing (IEF)9. Duodenal ulcer patients with hyper- pepsinogenemia (28%) and low serum ui-AT (35%) had a dominant blood group 0, lower mean age, an early onset of disease, a higher frequency of gastrointestinal (CI) bleeding and ulcer perforation. These parameters were found considerably different in patients with normal serum pepsi­nogen and ui-AT. Phenotype analysis of a1-AT revealed that four duodenal ulcer patients had partial deficiency of the protease inhibitor and none of the normal exhibited the deficiency pattern. The etiology of the disease appears to be genetic anomaly in 28% of patients while the rest (72%) had ulcers as a result of neuroendocrinological or environmental factors (JPMA 47:135,1997)

Synergistic effects of dietary nano selenium and vitamin C on growth, feeding, and physiological parameters of mahseer fish (Tor putitora)

The current study was conducted to determine the synergistic effects of dietary nano selenium (Nano Se) and vitamin C on growth, feeding, and physiological parameters of juvenile mahseer, Tor putitora. L-ascorbyl-2-polyphosphate (APP) was used as a source of vitamin C. Four semi-purified experimental diets were prepared. A basal diet kept without the supplementation of any micronutrient and the other three diets were formulated such that three different levels of APP (100, 200, and 300 mg kg−1) were used in combination with a pre-determined dose of Nano Se (0.68 mg kg−1). The results showed that both the micronutrients positively synergized the effects of each other. APP at the rate of 300 mg kg−1 showed strong interaction with Nano Se. The APP300 + Nano Se0.68 mg kg−1 diet supplemented diet significantly decreased (P< 0.05) the feed conversion ratio (FCR) while significantly increased (P< 0.05) the weight gain percentage (WG%), feed conversion efficiency (FCE%), specific growth rate (SGR), and serum growth hormone (GH) concentration. Similarly, the physiological parameters such as red blood cells count (RBCs), hemoglobin level (Hb), hematocrit value (Hct), and serum lysozyme activity were also significantly increased in group of fish fed diet supplemented with APP100 mg kg−1 in combination with Nano Se0.68 mg kg−1 as compared to the control group. The present results clearly indicated the beneficent synergistic effects of Nano Se and APP in mahseer fish. Moreover, the current finding also supported our hypothesis that Nano Se and APP potentiate positively the effect of each other when both the micronutrients are supplemented together in the same fish feed

Asthma knowledge and approach among Pakistani family physicians and the impact of an educational programme.

OBJECTIVES: To assess asthma knowledge and approach among Pakistani family physicians and the impact of an educational programme. DESIGN: A total of 89 family physicians attending a continuing medical education programme were evaluated using a 17-item questionnaire before and after a lecture and seminar-based educational programme. Three scores—total score (TSc), knowledge subscore (KSc) and approach subscore (ASc)—were calculated before and after the course. RESULTS: A total of 82 (92%) family physicians completed the questionnaire. A minimum TSc of 9 was achieved by 57% physicians before the course; this increased to 78% after the course. Physicians with 10 years since graduation achieved a higher baseline TSc than those who had graduated 20 years previously. The latter group showed a larger post-course improvement. Analysis of individual questions disclosed that 79% of family physicians were unable to assess the empirical risk of asthma in an unborn child, 61% were unable to correctly classify/treat Stage 2 asthma and a similar number peak expiratory flow rate (PEFR) (l/min) based acute asthma exacerbation. Reassuringly, 97% correctly identified clinical signs and 87% life-threatening features of asthma. CONCLUSION: Of all family physicians who responded to the questionnaire, 57% achieved acceptable baseline standards. Deficiencies regarding areas such as genetic counselling and disease severity assessment were observed. Strengths in identifying clinical signs and life-threatening features were evident. Continuing medical education resulted in a significant improvement in the post-course assessment, regardless of the years since graduation. KEY WORDS: asthma; family physicians; knowledge; approach; continuing medical education