Prevalence of the ß(S) gene among scheduled castes, scheduled tribes and other backward class groups in Central India.

Sickle cell disease is an inherited disorder of the blood, and characterized by vasoocclusive crises (VOC), risks for pneumococcal infections and organ toxicities, is associated with morbidity and premature mortality. India, with a population of 1.2 billion individuals, is estimated to be home to over 50.0% of the world's patients with sickle cell disease. The ß(S) gene [ß6(A3)Glu→Val; HBB: c.20A>T] has the highest prevalence in three socio-economically disadvantaged ethnic categories: the Scheduled Castes (SC), the Scheduled Tribes (ST), and Other Backward Class (OBC) groups in India. The tradition of endogamy practiced by the ethnic groups in India provides the rationale for the screening of individual populations to better understand the distribution of the ß(S) gene, guide counseling and awareness programs and aid development of public policy. We undertook a study to describe the prevalence of the ß(S) gene in these ethnic groups in the district of Nagpur, Maharashtra in Central India. Through community screening and subsequent targeted screening of high risk individuals, 35,636 individuals were screened, of whom 5466 were found to have sickle cell trait and 1010 were identified with sickle cell disease. Community screening revealed a sickle cell trait prevalence of 13.0% in the SC, 12.0% in the ST and 3.4% in the OBC population. This study describes the prevalence of the ß(S) gene within these groups in Central India determined by large scale community screening. This program has uncovered previously undiagnosed cases, provided detailed information to guide population-based disease counseling, prevention and comprehensive care programs.

Tuberculous neuritis: a rare sequel of a common disease.

Tuberculosis (TB), a disease caused by Mycobacterium tuberculosis is an infectious disease that continues to be a significant health problem in a developing country like India. The cause of peripheral neuropathy associated with tuberculosis is controversial. Possibilities include the toxic effects of anti-tuberculous chemotherapy (especially, rifampicin, streptomycin & ethambutol), immune mediated neuropathy, direct invasion of nerves, vasculitic neuropathy, compressive neuropathy, and meningitic reaction. This report describes an unusual finding of tuberculous granulomas in the peripheral nerve (Greater auricular nerve) of a patient ,who presented with a painful neck swelling. Granulomas were present in Greater auricular nerve (C2,C3) biopsy specimen associated with tuberculous peri-neuritis, but with no more specific indications of the mechanism of the neuropathy.

Study of placenta in sickle cell disorders.

Remarkable changes are seen on gross and microscopic examination of placenta of patients with sickle cell disorders, hence the present study was undertaken to find out the pathological changes seen in the placenta of sickle cell disorder patients, as compared to control and to study the effect of maternal sickling on the fetus. It includes total 73 cases, of which 10 were of control group and 63 were from patients with sickle cell disorders, which included 47 sickle cell trait (AS) and 16 sickle cell disease (SS) patients. In group II, 9 (14.28%) patients with SS pattern developed complications during pregnancy, in the form of vaso-occlusive and hemolytic crises. Pregnancy induced hypertension was seen in 4 (25%) out of 16 SS and 11 (23.40%) of the 47 AS patients. Urinary tract infection (UTI) was seen in 6 (37.5%) out of 16 SS and 8 (17.02%) out of 47 AS patients. Placentae in sickle cell disorders showed pathological changes in the form of infarction, calcification, sickled red blood cells and hemorrhage in intervillous spaces, increased syncytial knots, fibrinoid necrosis, stromal fibrosis, hyalinised villi and compensatory proliferation of trophoblastic cells.

Triangular approach for the diagnosis of monoclonal gammopathy in malignancies.

Monoclonal Gammopathy (MG) in multiple myeloma (MM) is an established association but its occurrence in nonmyelomatous malignancies and other inflammatory conditions is still a subject of research. We carried out this study to detect monoclonal gammopathy in myelomatous and nonmyelomatous malignancies by adopting the triangular approach of correlating radiologic findings, bone marrow studies and electrophoretic findings. 200 cases of malignancies (25 cases of multiple myeloma and 175 cases of nonmyelomatous malignancies) were studied. Serum and urine electrophoresis was carried out in every case and positive cases were subjected for typing by immunoelectrophoresis (IEP). The incidence of monoclonal gammopathy in nonmyelomatous malignancies was 2.29% (4/175 cases), in epithelial malignancies was 0.8% (1/125 cases) and 6% (3/50 cases) in haematological malignancies. Though the study sample was small, these interesting findings warrant more exhaustive research in this field.