Mody genes; linkage analysis and subgroup discovery from text documents

Genetic screening of Maturity Onset Diabetes of the Young [MODY] genes has not been performed in Pakistan so far; albeit MODY genes have been noticed in local population. A relevant research will help to establish a scheme for identification and treatment of MODY. The data source for the subgroup discovery was retrieved from PubMed. Family affected by MODY were contacted personaly for descriptive study. The family history was obtained from the representative members of the family and pedigree was drawn. The extensive clinical examination of both patients and their unaffected normal relatives was carried out by expert clinician. Specific primers for region of interest in genomic DNA were designed at the IBGE Islamabad using Primer 3 during last quarter of 2011. Mutation detection was performed followed by pattern discovery using subgroup discovery technique. Unidentified MODY genes facilitating the cause of a specific diabetes in European population may play a central role for diabetes characterized by autosomal dominant transmission in Pakistani population. Exclusion study indicates that there is no linkage to the known loci of MODY. Similarly genetic screening results suggest that no mutation is indicated in this examined family in MODY genes. There may be some environmental factors involved in causing this disease in this family; otherwise this disease is due to mutation in other reported MODY genes which are not screened in this study. Subgroup discovery results point out that all the reported MODY genes have association among themselves revealing 580 patterns

Prolonged neuromuscular blockade; after emergency cesarean section

We are presenting a case of prolonged neuromuscular blockade after emergency cesarean section. A 34 years old, young lady with no previous history of any systemic illness including neuromuscular disorder reported in the operation theatre for cesarean section. She was offered standard protocol for general anaesthesia using thiopentone sodium i/v for induction, suxamethonium i/v for intubation, and pancuronium bromide i/v for intra-operative relaxation. Intra-operative analgesia was obtained with nalbuphine i/v [after delivery of child]. Ampicillin and gentamicin i/v were used as prophylactic antibiotics, The patient failed to regain spontaneous breathing effort after a lapse of two hours since the last dose of pancuronium bromide. Laboratory investigations including complete blood picture, urea, creatinine, electrolytes [calcium, sodium, potassium] revealed anemia and severe hypocalcemia. She was given fresh whole blood and calcium gluconate intravenously, in addition to other supportive measures like ven tilatory support using SIMV mode of ventilation with 40% 02. Patient started regaining breathing effort after about 12 hours and was extubated after about 15 hours of artificial ventilation with little residual neuromuscular blocking effect. She was kept in the ICU for the next 24 hours for observation and was discharged from ICU the next day with full recovery. Conclusion Patient probably suffered from the interaction between gentamicin and pancuronium bromide, that was further potentiated by hypocalcemia and anaemia. She was given supportive care along with replacement of calcium, and anaemia was corrected by fresh whole blood transfusion. Patient recovered uneventfully and was discharged from ICU the next day