Idiopathic hemochromatosis: a report of two cases.
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Biomedical subjects
Publications and source records attributed to M M Ahuja.
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Electrophysiological studies in 13 patients with thyrotoxicosis (5 men and 8 women, aged 17 to 76 years) are reported. Five patients presented with features of sick sinus syndrome (SSS) (Group A) while the remaining 8 patients (Group B) had no detectable cardiovascular abnormality. Sinus node function (corrected sinus node recovery and sinoatrial conduction time) was abnormal in all Group A but normal in Group B patients. Intra-atrial, artioventricular (AV) nodal, and infranodal conduction time and effective refractory period of atrium were normal in all patients in both groups. Effective refractory period of AV node was decreased in 6 patients (3 in each group). All Group A patients received radioiodine with complete clinical remission of sick sinus state in 4 subjects. Repeat electrophysiological studies in two of these patients, 6 and 12 months after treatment, showed complete normalization of sinus node function. This is the first reported electrophysiological study documenting the occurrence of SSS in thyrotoxicosis reversed by effective antithyroid treatment. We suggest that attempts should be made to identify underlying thyrotoxicosis in all patients with SSS, especially in the older age group. Appropriate medical treatment may prevent unnecessary implantation of permanent pacemakers in such patients.
The HLA haplotype segregation and autoantibody spectrum in 7 type I (insulin-dependent) diabetic multiplex families of North Indian origin were determined. Of the total of 17 diabetic sibs, 7 shared both haplotypes and 3 shared one haplotype with the proband. No HLA-non-identical sibs were observed. This distribution of haplotypes was non-random (P approximately equal to 0.005). The mode of inheritance was compatible with an autosomal recessive model, while a dominant model was unlikely. Pancreatic islet-cell antibodies were found in 23.5% of affected sibs, but in no healthy family member. A high incidence of other autoantibodies (parietal-cell and thyroglobulin/thyroid microsomal antibodies) was detected in both the diabetic patients (26.3%), and in healthy first-degree relatives (22.2%). These findings emphasize the role of HLA-linked genes and autoimmunity in the pathogenesis of type I diabetes in North India.
The incidence of neonatal hypothyroidism, as reflected in cord-blood thyroxine and thyrotropin levels, varied from 0.6% to 13.3% in iodine-deficient and normal regions of India (selected districts of Uttar Pradesh and Kerala and the city of Delhi), depending on the degree of environmental iodine deficiency. In populations with a high incidence of neonatal hypothyroidism, an increased prevalence of nerve deafness and a shift to the left in the distribution of IQ scores (towards lower scores) have been demonstrated. These indications of mild brain damage suggest that nutritional iodine deficiency can present in other ways than goitre or cretinism. Determination of the incidence of neonatal hypothyroidism using dried cord-blood spot screening appears to be the most useful and reliable method to assess the risk of brain damage in iodine-deficient areas.
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Eighty-eight North Indian patients with type I, insulin-dependent diabetes mellitus (IDDM) and 113 unaffected individuals were typed for HLA-DR antigens from DR1 to DR7. The frequency of HLA-DR3 was significantly increased in the patients as compared with the controls (78.4% versus 25.7%, corrected P = 1.68 X 10(-12], the relative risk (RR) of 10.52 being much higher than that reported in the Western IDDM population. HLA-DR2 showed a significant negative association (RR = 0.18, corrected P = 1.03 X 10(-5], but DR4 had no relationship with IDDM in the present study (RR = 1.12, P = 0.12). These results emphasize the differences in HLA-IDDM associations among different ethnic groups.
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HLA antigen studies indicate heterogeneity of allele of B locus and propedine factor based on racial differences, while confirming specificity of DR3-DR4 for IDDM. C-peptide reserve is indicative of some sparing of beta cell destruction due to pre-existing nutritional state with enzymatic modulations modifying ketosis in the atypical IDDM in North India. Specific diabetic vascular disease has lesser geographical predisposition though factors that promote its severity or restrain its progress are not well understood.
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