Seip-Berardinelli syndrome.
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Biomedical subjects
Publications and source records attributed to L Mehta.
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Some 0.55 million people living in semi-urban and slum populations were screened for mental retardation by trained primary health centre (PHC) doctors, nurses and community health volunteers (CHVs). The staff were provided with prior training on the detection, prevention and diagnosis of mental retardation, prenatal diagnosis, and reproductive responsibilities. Field visits were employed to confirm diagnosed developmental disabilities, and demographic data incorporating social maps of 14 PHCs were prepared. Cases with high-risk genetic factors detected by PHC staff were referred to the Centre for Research in Mental Retardation (CREMERE) for cytogenetic and metabolic investigations, thus linking the study population and the Referral Centre. A genetic team interacted with the patient and family members for genetic counselling. Mental retardation was confirmed in 511 of the 525 cases reported, reflecting the positive impact of training on the CHVs. Potentially preventable environmental factors, such as birth asphyxia, infections, and low birth weight were identified in 251 cases (49%), 137 (27%) of which had additional genetic factors. Genetic causes were found in 186 (36%) individuals, the most common being Down syndrome. The study illustrates the urgent need for the integration of genetic screening into the public health services in India.
The index branch of the radial cutaneous nerve has been demonstrated as a constant nerve which can readily biopsied under local anesthesia and yields a nerve which is of suitable size for quantitative and qualitative studies both by light and electron microscopy. It supplies a limited but constant area where the sensory loss does not disturb the patient. Definite ultrastructural changes have been demonstrated in the clinically normal nerves of leprosy patients. These nerves have also revealed a loss in the small myelinated and unmyelinated fibers, which correlated with the common clinical findings of the absence of sweating and dissociated sensory loss in this disease. Gross damage has been encountered in nerves which showed only early signs of clinical damage even with refined methods of sensory testing. These nerves would have passed as normal on routine testing by No. 5 nylon. Regeneration of small fibers was noted following loss of large size fibers. Nerve conduction velocity may be a useful tool in early diagnosis.
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Alkaline phosphatase activity in leprosy nerves was studied. The activity was mainly in blood vessels and was maximum in healthy nerves. Low levels were seen in crush injury. In leprosy lower levels were in BT than LL cases. Endothelial cells (in vitro) released alkpase when infected with live bacilli only. No response was observed with heat killed bacilli.
The nature of the sub epithelial zone was established. S.E. shows IgG and IgM activity in tuberculoid group. Lepromatous group did not show any IgM or IgG response. IgE activity was seen in the lepromatous region in exudate and on the surfaces of Macrophages. Lysozyme activity was seen in the mucous acini of lepromatous leprosy.
The morphology of the gall bladder, the length and mode of termination of the cystic duct, and the origin and distribution of the cystic artery were studied in 88 adult Zambians (61 men, 27 women). The origin of the cystic artery was the right hepatic artery (53%), and the common hepatic artery (41%). Hartmann's pouch was observed in 44% of gall bladders. The cystic duct usually opened into the common hepatic duct (91%); its average length was 2 cm.
A cross sectional study of 2,637 Zambian school children (1,220 boys and 1,417 girls) between the ages of six and eighteen years was carried out to observe growth patterns. Five anthropometric measurements were taken. It was noted that the growth spurt commenced at the age of nine years in girls. The accelerated growth continued until the age of fifteen years after which the rate of growth was very small. In boys, the growth spurt commenced a year later and continued until the age of seventeen years. Height was compared with that of the European and Ghanian children from London and Accra respectively. Although the growth patterns were similar, the Europeans were taller and the Ghanians were shorter than Zambians in this age group.
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