Background & objectives:Chronic myelogenous leukaemia (CML) is the commonest leukaemia in Asia. There is a paucity data on cytogenetic and molecular analyses of Indian CML patients. This apparently reflects the low availability of cytogenetic and molecular techniques in our country. This study aimed to document various types of BCR-ABL fusion transcripts in different phases of CML and to compare the Ph chromosome positivity/negativity vis-a-vis BCR-ABL fusion transcripts in adult CML patients.Methods:Between June 2004 and February 2009, 208 patients were diagnosed as CML in chronic phase (CP), accelerated phase (AP) and blast crisis (BC), according to standard criteria. Cytogenetic and molecular genetic analyses were performed in all patients. Various types of BCR-ABL hybrid transcripts were compared with phases of CML and cytogenetic abnormalities.Results:Among 208 CML patients, b3a2 BCR-ABL transcripts were most commonly detected (66.82%) followed by b2a2 (28.84%), b3a2 + b2a2 (3.36%), b3a2 + e19a2 (0.48%) and b2a2 + e19a2 (0.48%). b3a2 transcripts were more frequently detected than b2a2 transcripts, in the whole group of 208 as well as in 183 CML-CP patients (P<0.0001). Ph chromosome was positive in 135 of 139 patients with b3a2 transcripts and 56 of 60 patients with b2a2 transcripts, difference not being significant. Additional cytogenetic abnormalities detected in 3.8 per cent patients in CML-CP and 44 per cent patients in CML-AP/BC, did not show predilection for any BCR-ABL transcript type.Interpretation & conclusions:This study documents higher Ph positivity (96.15%) by cytogenetic analysis among CML patients, as confirmed by qualitative reverse transcriptase-polymerase chain reaction (RT-PCR) analysis in a large patient group from north India. Both the techniques contribute towards understanding the disease biology, and have important implications for diagnosis and management of CML patients.

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Background: Myopathy of metabolic origin in childhood occurs due to a variety of conditions. Pompe's Disease also known as Glycogen storage disease Type II, is a rare storage disorder with clinical presentation akin to spinal muscular atrophy. Methods: A series of patients with suspected metabolic myopathy were reviewed at a tertiary care service hospital over a period of three years. The diagnosis was confirmed by estimation of acid alpha glucosidase activity. Result: At our centre, these cases presented with generalized hypotonia, organomegaly (hepatomegaly, cardiomegaly) and congestive cardiac failure. Infantile onset, the most severe form of Pompe's disease, was the commonest form accounting for 75% of the cases. Four of the babies with infantile onset Pompe's disease expired, three due to refractory heart failure and one to fulminant respiratory infection before 15 months of age. Conclusion: Pompe's Disease is now being increasingly diagnosed, due to definitive enzyme estimation facilities. With the recent availability of enzyme replacement therapy with Myozyme, the prognosis is likely to change for the better. MJAFI 2010; 66 : 32-36

Background: Gluten sensitive enteropathy or celiac disease (CD) is a disorder of small bowel that occurs upon exposure to gluten. A total of 67 children of either sex in the age group of 1-12 years with unexplained failure to thrive were studied for the prevalence of CD. Methods: This was a cross-sectional study. It included detailed history, clinical assessment, estimation of anti gliadin (AGA), tissue transglutaminase antibodies (tTGA) and duodenal biopsy. Treatment with gluten free diet and follow-up of diagnosed cases was done for one year. Result: Sixteen cases (23.88%) had villous atrophy and positive serology, essential criteria for the diagnosis of CD. Forty six (69%) children were between 4-12 years of age. Male to female ratio was 2.3:1. Main symptoms were irritability (63%), diarrhea (56%) and weight loss (56%). Thirty seven (56%) children had weight less than 3 rd percentile. tTGA was 100% sensitive and 90.2% specific. Duodenal biopsy showed decreased villious-crypt ratio in 81.25% and intra epithelial lymphocytosis in 81% children (p<0.000001). All the confirmed cases were advised strict gluten free diet for one year. On follow-up at six months, all children showed improvement in their symptoms and weight gain. Conclusion: CD is an important cause of unexplained failure to thrive in children.

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