The parents of 130 Down Syndrome (DS) females aged 15 to 40 years were requested to pen the information about the menstrual cycle details. Only 10 responded to the request. In view of the absence of information on DS in India regarding menstrual history, the present investigation has been undertaken. It has given the following observations: The axillary and pubic hair is present in most of the females. Most of them have a normal voice. As for the menstrual history, the age of onset of menstruation was at an average age of 15.5 years, the previous and the present menstrual history are normal in most of them. None of the females have pain during menstruation, premenstrual tension or mid menstrual pain or spotting. Most of them need help in changing sanitary pads. One has been hysterectomized. Hence, appropriate regular gynecological care is emphasized.

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Loss of sex chromosomes has been reported in normal and malignant marrows and its frequency increases with age in both situations. It is not clear whether the sex chromosome loss is a critical mutational event for neoplastic transformation or a genetic change related to ageing. The present study was undertaken to analyze incidence of loss of sex chromosomes in leukemia patients. Karyotypic analysis in bone marrow cells was carried out in total 270 AML patients registered at G.C.& R.I. during January 2000 to October 2003. Out of 270, 22 patients had loss of sex chromosome in addition to other disease specific chromosomal abnormalities. Out of 22 patients, 50% (11 of 22) were of the pediatric age (up to 14 years), and only 10% (3 of 22) patients were above the age of 50 years, maximum age being 65 years. On follow-up, only in patients with pathological remission normal 46XX/XY karyotypes were seen. Whereas in patients with persistent leukemic activity, clones with loss of sex chromosome were observed. The results indicate that sex chromosome loss in these cases may be equivalent of a clonal cytogenetic process rather than related to ageing process.

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Arthritides, a symmetrical polyarticular disease of the bone are a heterogenous group of disorders in which hereditary and environmental factors in combination with an altered immune response appear to play a causative and pathogenic role in its occurrence. Alkaline phosphatase (ALP) is an enzyme found in all tissues, with particularly high concentrations of ALP observed in the liver, bile ducts, placenta, and bone.Alkaline phosphatase is an orthophosphoric monoester phosphohydrolase catalyzing the hydrolysis of organic esters at alkaline pH, indicating that alkaline phosphatase is involved in fundamental biological processes.1 The present study envisages on identifying the specific electromorphic association of alkaline phosphatase with arthritides. Phenotyping of serum samples was carried out by PAGE (Polyacrylamide gel electrophoresis) following Davies (1964)2 protocol on 41 juvenile arthritis, 150 rheumatoid arthritis and 100 osteo arthritis apart from, 25 normal children and 100 adult healthy subjects. Phenotyping of alkaline phosphatase revealed an increase in preponderance of p+ and p++ phenotypes in juvenile, rheumatoid and osteo arthritic patients. However a significant association of these phenotypes was observed only with rheumatoid arthritis condition (c2:17.46). Similarly, a significant increase of p+ phenotypes in female rheumatoid arthritis patients was observed (c2:14.973), suggesting that the decrease in p° (tissue non specific) synthesis/secretion of alkaline phosphatase could be associated with decreased mineralization and ossification process in arthritis condition.

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Superoxde dismutase is dimeric antioxidant enzyme responsible for quenching of superoxide radicals which are released during the chemical reactions of the various metabolic pathways .The enzyme levels of SOD are altered to a considerable extent in various diseased states exhibiting either elevation or depletion in their enzymatic activity.As this phenomenon was found to be more evident in leukaemias, we have estimated the Cu-Zn SOD levels in the red cells of the leukaemic patients in order to evaluate the efficiency of anti oxidant system and its relation to leukaemiogenesis. The overall mean SOD levels in the leukaemic patients (AML, ALL and CML) were significantly low (124.97±6.46) as compared to that of the normal controls (287.08±6.79). In respect to the age, the mean SOD levels were found to be elevated indicating the extent of the free radicals might have stimulated the production of the antioxidants.In response to chemotherapy, the mean SOD levels were observed to be elevated but not the extent of the normal levels among the treated groups in AML(127.40±8.67) and CML (174.73±53.59) types of leukaemias as compared to that of the untreated groups. In general the stage of leukaemia did not cause any variation in the SOD levels. However, the L2 in ALL (107.49±4.88), blast crisis in CML (154.00±19.86) showed reduced levels of SOD.

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Achondroplasia is the most common form of dwarfism and has an incidence of approximately 1/7,500. In more than 97% of cases, it is caused by a recurrent point mutation, a G to A substitution at nucleotide position 1138 (G1138A) of the fibroblast growth factor receptor 3 gene. Although this is an autosomal dominant condition, more than 90% of all mutations occur sporadically making this one of the most mutagenic sites in the human genome. The reasons for the high spontaneous G1138A mutation rate are not known. This investigation was performed by developing a simple and rapid semi-quantitative allele specific PCR based assay capable of reliably detecting more than 25 mutant G1138A copies in a pool of 300,000 wild type molecules. Using this assay, the G1138A mutation frequency was measured in cell lines deficient in mismatch repair (LoVo, SW48) and comparing it with controls. No differences were found in the frequency of this point mutation between the mismatch repair deficient and wild type cell lines.

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