ABSTRACT
BACKGROUND: Neonatal diabetes mellitus (NDM) is a monogenic form of diabetes mellitus. Until now, patients in developing countries who had this condition had been misdiagnosed as having type 1 diabetes mellitus and accordingly directed to erroneous, ineffective, and costly therapeutic regimens. OBJECTIVE: To detect Egyptian patients who harbor pathological variant in the KCNJ11 gene, so that their treatment regimen can be modified as needed to increase its effectiveness. METHODS: We sequenced KCNJ11 in 17 ethnic Egyptian probands diagnosed with diabetes mellitus before age 2 years. RESULTS: A preliminary case individual harboring a KCNJ11 pathological variant (p.R201H) was identified. The patient was successfully shifted from insulin therapy to sulfonylurea. Four previously identified benign variants, namely, E23K, I337V, L270V, and A190A, were detected in this patient. CONCLUSION: Implementing the findings of this molecular analysis could have a major clinical and nationwide economic impact on world health, especially in developing countries.
Subject(s)
DNA Mutational Analysis , Diabetes Mellitus , Potassium Channels, Inwardly Rectifying/genetics , Adolescent , Child , Child, Preschool , Cross-Sectional Studies , Diabetes Mellitus/diagnosis , Diabetes Mellitus/drug therapy , Diabetes Mellitus/genetics , Diabetes Mellitus, Type 1 , Diagnostic Errors , Egypt , Female , Humans , Infant , Male , Mutation , Prospective Studies , Sulfonylurea Compounds/therapeutic useABSTRACT
BACKGROUND: Evaluation of left ventricular (LV) size and function is one of the important reasons for performing echocardiography. Real time three dimensional echocardiography (RT3DE) is now available for a precise non-invasive ventricular volumetry. Aim of work was to validate RT3DE as a non-invasive cardiac imaging method for measurement of LV volumes using cardiac angiography as the reference technique. METHODS: Prospective study on 40 consecutive patients with tetralogy of Fallot (TOF) referred for cardiac catheterization for preoperative assessment. Biplane cineangiography, conventional 2 dimensional echocardiography (2DE) and RT3DE were performed for the patients. A control group of 18 age and sex matched children was included and 2DE and RT3DE were performed for them. RESULTS: The mean LV end diastolic volume (LVEDV) and LVEDV index (LVEDVI) measured by RT3DE of patients were lower than controls (p value = 0.004, 0.01, respectively). There was strong correlation between the mean value of the LVEDV and the LVEDVI measured by RT3DE and angiography (r = 0.97, p < 0.001). The mean value of LV ejection fraction measured by RT3DE was lower than that assessed by 2DE (50 ± 6.2%, 65 ± 4.6%, respectively, p value < 0.001) in the studied TOF cases. There was good intra- and inter-observer reliability for all measurements. CONCLUSION: RT3DE is a noninvasive and feasible tool for measurement of LV volumes that strongly correlates with LV volumetry done by angiography in very young infants and children, and further studies needed.