Noha Musa

Uncontrolled type-1 diabetes (T1DM) can lead to dyslipidaemia and albuminuria, which may promote cardiovascular injuries. However, some lipidemic factors could be useful in predicting cardiac dysfunction. Seventy-eight adolescents under insulin treatment due to a 6-year history of T1DM and were retrospectively examined. Glycemia, lipidemia, and albuminuria were measured in addition to development of cardiovascular abnormalities Both girls and boys showed higher HbA1c and fasting blood glucose and 27.1% females and 33.3% males exhibited microalbuminuria though their plasma levels of total cholesterol (TC), triglycerides (TG), and low-density lipoproteins (LDL) and high-density lipoproteins (HDL lipoproteins were in the normal range. They exhibited a preserved systolic function, but 50% of females and 66.6% of males had developed diastolic failures. Interestingly, girls with diastolic dysfunction showed significantly lower concentrations of HDL and higher TC/HDL and TG/HDL ratios. In fact, low HDL levels (OR 0.93; 95% CI 0.88-0.99; = 0.029) and high TC/HDL (OR 2.55; 95% CI 1.9-5.45; = 0.016) and TG/HDL (OR 2.74; 95% CI 1.12-6.71; = 0.028) ratios associated with the development of diastolic complications. The cut-off values for HDL, TC/HDL, and TG/HDL were 49 mg/dL, 3.0 and 1.85, respectively. HDL and TC/HDL and TG/HDL ratios may be useful for predicting diastolic dysfunction in girls with uncontrolled T1DM.

Congenital adrenal hyperplasia (CAH) is a monogenic disorder caused by genetic diversity in the gene, with 21-hydroxylase deficiency (21-OHD) as the most common type. Early sex assignment and early diagnosis of different genetic variations with a proper technique are important to reduce mortality and morbidity. Proper early sex identification reduces emotional, social, and psychological stress. Detection of a spectrum of aberrations in the gene, including copy number variations, gene conversion, chimeric genes, and point variations. The gene was screened using MLPA assay in 112 unrelated Egyptian children with 21-OHD CAH (33 males and 79 females). In the studied group, 79.5% were diagnosed within the first month of life. 46.8% of the genetic females were misdiagnosed as males. Among the copy number variation results, large deletions in 15.4% and three types of chimeric genes in 9% (CH-1, CH-7, and CAH-X CH-1) were detected. Regarding gene dosage, one copy of was found in 5 cases (4.5%), three copies were detected in 7 cases (6.3%), and one case (0.9%) showed four copies. Eight common genetic variants were identified, I2G, large deletions, large gene conversion (LGC), I172N, F306 + T, -113 SNP, 8bp Del, and exon 6 cluster (V237E and M239K) with an allelic frequency of 32.62%, 15.45%, 7.30%, 3.00%, 2.58%, 2.15%, 0.86%, and 0.86%, respectively. High prevalence of copy number variations highlights the added value of using MLPA in routine laboratory diagnosis of CAH patients.

INTRODUCTION: Kidney transplantation (KT) has been established as an efficient treatment of end stage renal disease (ESRD) with the advantage of allowing the patient to live a nearly healthy life. We aimed to determine whether pre-transplant body mass index (BMI) affects renal allograft function and survival in pediatric KT recipients.

METHODS: cross sectional cohort study included 50 post KT recipients (more than 3 years) with an age range of 10 to 15 years, regularly following at the Kidney Transplantation Outpatient Clinic, Cairo University Children's Hospital, were subjected to a detailed history and physical examination, laboratory investigation in the form of fasting blood glucose (FBG),oral glucose tolerance test (OGTT), lipid profile, hemoglobin A1c (HbA1c) and microalbuminuria.

RESULTS: Pre- post- kidney transplant BMI has significant positive correlation with graft rejection episodes, HbA1c, FBG, BMI post-KT, total cholesterol, triglycerides, and low-density lipoprotein (p < 0.01). There was a statistically significant negative correlation between the mean difference of BMI (post - pre) and graft survival in years (p = 0.036). Obese patients displayed lower survival compared with non-obese subjects at 5 years, but this was statistically not significant (p-value = 0.165).

CONCLUSION: obesity is an independent risk factor for graft loss and patient death in kidney transplantation. Careful patient selection with pre-transplantation weight reduction is mandatory to reduce the rate of early post-transplantation complications and to improve long-term outcomes.