Diagnostic Strategy for Mucolipidosis II/III.

Overlapping clinical phenotypes are a diagnostic challenge to the clinician, especially in the cases of mucolipidosis (ML) and mucopolysaccharide disorders (MPS), due to overlapping phenotypes. Present study was carried out in 147 children suspected to have ML or MPS and 100 controls. They were screened for ML II/III by colorimetric method using substrate pNCS. Six children were found screen positive for ML II/III and further confirmatory study showed significantly raised activity in plasma confirming high specificity of the ML screening test. Forty-two (28.5%) children out of remaining 141 children that were screen negative, were found to have various MPS disorders, while rest 99 had normal enzyme activity in plasma and leucocytes. Present study demonstrates prompt and specific chemical method that can be used as a tool for estimating ML II/III, with high specificity.

Beta-thalassemia mutations in western India.

OBJECTIVE: To study occurrence of common mutations in the population of Gujarat and the most prevalent mutation in certain high-risk communities. METHODS: The mutation screening was carried out using ARMS-PCR in children with beta thalassemia. RESULTS: Population screening has identified certain communities like Sindhis, Lohana, Rajputs, and SC/ST/OBC to be at higher risk as compared to others. The most common mutation was IVS 1-5 (G-->C) followed by 619 bp deletions of the total cases coming to Gujarat. CONCLUSION: Molecular evaluation for Thalassemia should be considered for families whose ethnicity indicates origin from high-risk community.

Study of anticardiolipin antibodies in repeated abortions--an institutional experience.

A cohort of 178 pregnant women with a history of first or second trimester abortions (2 or more) were the base of present study. In all, other causes of abortion were ruled out except for anti-phospholipid syndrome. Anti-Cardiolipin antibody (ACA) (IgG & IgM) was estimated in the sera samples of all women. Out of 178 women, any one or both immunoglobulins were above the cut off range (> 15.0 units) in 47 (26.4%) while both immunoglobulins were normal in 131 (73.59%) women. Both immunoglobulins were present in only 0.5% women. ACA-IgG alone was present in 11.79% while ACA-IgM alone was present in 14.04% women. We observe from present study that ACA is a major cause of recurrent fetal loss & many pregnancies can be saved if diagnosed & treated adequately.

A case of a sex-reversed 46,XY female with endodermus sinus tumor.

We describe.a 46,XY female with complete gonadal dysgenesis, who developed an endodermal sinus tumor in her peritoneal cavity at 21 years of age. Histological investigations for gonadal dysgenesis revealed a complete absence of testicular development. Molecular studies indicated that the sex determining gene, SRY, was not mutated and that the DSS locus at Xp21.3 was present as a single copy. The possible molecular mechanisms of sex reversal and endodemal sinus tumor in this patient are discussed.

A newer avenue for evaluation of thyroid dysfunction.

Attempt has been made to rationalise the biochemical assessment of patients suspected to have thyroid dysfunction by introduction of a new rapid and supersensitive immunoradiometric assay (IRMA) for TSH. 294 patients were subjected to thyroid investigation viz; tT3, tT4 and TSH (IRMA). Of these, 51 (17.34%) were hypothyroid, 22 (7.48%) were hyperthyroid and 221 (75.1%) were euthyroid. The ratio of thyroid disorder in male to female was 1:3.38. In all patients with hyperthyroidism TSH (IRMA) was 0.05 to undetectable and it was more than 4.5 ulu/ml in hypothyroid patients. TSH (IRMA) was low in one euthyroid patient a 0.34% incidence of false negativity. In 2 patients with subclinical hyperthyroidism TSH (IRMA) was low while tT3 and tT4 were normal. TSH (IRMA) therefore may obviate the need for more time consuming and expensive TRH test and simplify the approach to thyroid function tests in patients suspected to have masked or overt hyperthyroidism.