Rosiglitazone and metformin in patients with type-2 diabetes mellitus who are inadequately controlled on metformin alone

Type 2 Diabetes Mellitus is almost reaching epidemic levels. With tight hyperglycemic control the risk reduction is 24% for any diabetes related end-point and 32% for death related to diabetes, against only 0.9% decrease in HbAlc level. Complementary mode of actions of Rosiglitazone and Metformin can be used to maximize the therapeutic effect and to decrease the side effects. We evaluated the efficacy, safety and tolerability of the combination of Rosiglitazone and Metformin on change in HbAlc levels from baseline over a period 24 weeks in patients with type 2 diabetes mellitus. Twenty eight type 2 diabetes mellitus patients were recruited randomly presenting to West Medical Ward, Mayo hospital Lahore, through OPD, Diabetic Clinic and Emergency, who were on Metformin alone and were poorly controlled from September 2003 to July 2004. They were given Rosiglitazone 4 mg/day or 8 mg/day with metformin for a period of 24 weeks. Only 2 patients were dropped and 26 patients completed the study [46% were males and 54% were females], and none of patient was dropped due to adverse effects. Their fasting blood sugar measured at baseline and at 4, 8, 16 and 24 week. HbAlc was measured at start and at 24 weeks. The fasting blood glucose responders were 84.6%, with mean fall of 46 mg/dl. HbAlc responders were 73% patients. Average weight gain was 1.125 kg over 24 weeks. Out of 26 patients, 89% showed a mild decrease in hemoglobin concentration but none reaching anemic levels. Only 10% patients had a rise in liver enzymes, which was less than 2 times the normal. Addition of rosiglitazone, in patients with type 2 diabetes mellitus, who are inadequately controlled on metformin alone, resulted in better glycemic control but a large scale study is required and other combinations with Rosiglitazone like sulphonylurea and insulin should be compared

Use of FISH technique in the diagnosis of chromosomal syndromes

Major chromosome abnormalities are present in 0.65% of all neonates. Fluorescent in situ hybridization [FISH] is useful in diagnosing microdeletion syndromes that would otherwise be difficult to diagnose using standard cytogenetics. In this study, we used FISH analysis in the laboratory diagnosis of 4 patients with Prader-Willi Syndrome [del[15][q11.2q12]], 4 patients with DiGeorge syndrome [del[22][q11.2q11.23]] and 4 patients with Williams syndrome [del[7][q11.23q11.23]]. High-resolution chromosome analysis in all these patients was either normal or inconclusive but all the syndromes were confirmed using FISH. We recommend cytogenetic analysis should always be supplemented with FISH to diagnose all cases suspected of a microdeletion syndrome

Cytogenetic evaluation of 1000 cases of chorionic villus sampling

Chorionic villus sampling [CVS] is used routinely as a first trimester diagnostic procedure for fetal karyotyping in at-risk pregnancies. The success of the procedure is dependent on the experience of the operator performing it. The objective of this study was to determine the relationship between an operator-controlled clinical and laboratory setting and the safety and reliability of CVS service. One thousand patients had a CVS procedure for a variety of indications, such as advanced maternal age, previous child with chromosome abnormality, etc. Both transcervical and transabdominal procedures were performed, according to placental location and uterine environment. For cytogenetic diagnosis, direct and short-term cultures were set up according to standard laboratory protocol. Cytogenetic results were obtained in 99.6% of studies with 94.5% normal [46. XX or 46. XY], with the remaining having a variety of numerical and structural chromosomal abnormalities. Maternal cell contamination was found in 2% of the first 262 cases, while the overall rate observed in the 1000 samples was 0.5%. Level II mosaicism was observed in 0.8% and level III mosaicism observed in 0.9% of cases, respectively. The overall rate of pregnancy loss of chromosomally normal pregnancies within 28 weeks of gestation was 2.8%. No limb reduction defects were seen in any infant post-CVS. Our record demonstrates that experienced operators can deliver a safe and reliable CVS service