ABSTRACT
Maternally inherited diabetes with deafness is rare diabetes caused by a mitochondrial DNA defect. 85% of cases are associated with m.3243A N G mutation. The phenotypic heterogeneity of MIDD may be the consequence of different levels of mutated mtDNA among mitochondria in a given tissue. It is important to diagnose this form of diabetes because of the unique management issues and associated comorbidities. A very strong family history of diabetes, deafness and presence of retinal dystrophy should prompt an investigation for MIDD. Microvascular complications out of keeping with duration of diabetes are another clue to the diagnosis. Retinal and renal manifestations of mitochondrial disease may be confused for diabetic complications. Glutamic acid decarboxylase (GAD) autoantibody negativity in a nonobese diabetic is another clue. Cardiac conduction defects and GDM may also raise suspicion as to the diagnosis. Recognizing this etiology of DM should promote family screening, genetic counseling, screening of associated comorbidities, avoidance of metformin, and cautious use of statins. Methods: We screened a total of 125 patients with diabetes and after careful history and examination, family history and screening, focused examination by ENT and an ophtho specialist and imaging of brain along with fundus photography, we found out a total of 7 patients with monogenic diabetes. Results: Out of 125 patients screened ,there were 5 females and 2 males.5 out of 7 patients were having maternal history and were diagnosed after 4 to 12 years of diabetes duaration.5 out of 7 patients had neurological involvement and 4 out of 7 patients had hearing impairment.5 out of 7 patients had retinal findings on fundus photography. Conclusion: Recognizing this etiology of DM should promote family screening, genetic counseling, screening of associated comorbidities, avoidance of metformin, and cautious use of statins.
ABSTRACT
Background: Organophosphate (OP) insectide poisoning results from occupational, accidental and intentional exposure. The mortality rate of OP poisoning is high. Early diagnosis and appropriate treatment is often lifesaving.Methods: This study 揑ntensive care management of organophosphorous poisoning in Govt. medical college Srinagar (Sgr) hospital was a prospective one and was conducted over a period of two. All the patients with a provisional diagnosis of Organophosphorous poisoning who reported to the medical casualty and intensive care unit of SMHS hospital Sgr were included in this study.Results: Out of a total of 1258 Organophosphorous poisoning cases, males were (34.5%) and females were (65.5%). Suicidal mode of poisoning was most common in our patients and constituted 63.20%. Out of 254 Organophosphorous poisoned patients admitted in ICU, 184 survived and 70 expired. Therefore, mortality rate for Organophosphorous poisoned patients who needed mechanical ventilation was 27.55.Conclusions: OP poisoning is a serious problem in Kashmir Valley. Efforts should be directed towards rapid diagnosis and management of this condition. Additionally, close intensive monitoring of these patients for early recognition of respiratory failure which is one of the serious complication of OP poisoning with intensive care support will help in decreasing the mortality rate in these patients.