Effect of medium chain triglycerides enriched formula on growth of biliary atresia patients after Kasai portoenterostomy.

BACKGROUND AND STUDY AIMS: Biliary atresia (BA) is the most common cause of neonatal cholestasis, negatively affecting nutritional status, growth, and development. It is the most frequent paediatric indication for liver transplantation. The Kasai portoenterostomy (KPE) operation is an effective procedure with favourable outcomes when performed before two months of age. The present study aimed to assess the nutritional status of patients with biliary atresia who underwent the Kasai operation and to evaluate the effectiveness of nutritional counselling using medium-chain triglyceride (MCT) formulas and proper supplementation on their nutritional status, growth, and vitamin D levels. PATIENTS AND METHODS: This prospective observational study included 36 infants with biliary atresia who underwent Kasai portoenterostomy. All patients underwent clinical assessment, anthropometric evaluation, nutritional counselling, and an evaluation of vitamin D levels. Only compliant patients (22/36) were followed up after 3 and 6 months of nutritional counselling. RESULTS: Z-scores for weight, triceps skinfold thickness, and mid-upper arm circumference improved significantly after three months, and the height velocity Z-score improved after six months of nutritional counselling using an MCT-containing formula and supplementations. Patients who showed an improvement in cholestasis had better responses. The initial assessment revealed low serum levels of 25-hydroxyvitamin D in 77.8 %, which increased significantly (p = 0.012). CONCLUSION: Dietary intervention and supplementation with MCT and micronutrients can improve the nutritional status of children with BA following KPE.

Congenital leptin and leptin receptor deficiencies in nine new families: identification of six novel variants and review of literature.

Early childhood obesity is a real public health problem worldwide. Identifying the etiologies, especially treatable and preventable causes, can direct health professionals toward proper management. Measurement of serum leptin levels is helpful in the diagnosis of congenital leptin and leptin receptor deficiencies which are considered important rare causes of early childhood obesity. The main aim of this study was to investigate the frequency of LEP, LEPR, and MC4R gene variants among a cohort of Egyptian patients with severe early onset obesity. The current cross-sectional study included 30 children who developed obesity during the first year of life with BMI > 2SD (for age and sex). The studied patients were subjected to full medical history taking, anthropometric measurements, serum leptin and insulin assays, and genetic testing of LEP, LEPR and MC4R. Disease causing variants in LEP and LEPR were identified in 10/30 patients with a detection rate of 30%. Eight different homozygous variants (two pathogenic, three likely pathogenic, and three variants of uncertain significant) were identified in the two genes, including six previously unreported LEPR variants. Of them, a new frameshift variant in LEPR gene (c.1045delT, p.S349Lfs*22) was recurrent in two unrelated families and seems to have a founder effect in our population. In conclusion, we reported ten new patients with leptin and leptin receptor deficiencies and identified six novel LEPR variants expanding the mutational spectrum of this rare disorder. Furthermore, the diagnosis of these patients helped us in genetic counseling and patients' managements specially with the availability of drugs for LEP and LEPR deficiencies.

Assessment of the Effect of Timing of Insulin Glargine Administration (Bedtime versus Morning) on Glycemic Control in Children with Type 1 Diabetes in Cairo, Egypt: A Single Centre Experience.

BACKGROUND: Diabetes control without developing hypoglycemia is challenging in Type 1 diabetes (T1D) management, with few studies evaluating the effect of insulin glargine timing on glucoregulation. OBJECTIVES: The aim is to compare glycemic control using continuous glucose monitoring (CGM) in children with T1D receiving bedtime versus morning glargine and to assess CGM effect on glycemia. METHODS: This cross-sectional observational study was conducted on 30 pediatric patients with T1D receiving glargine (19 at bedtime and 11 in the morning). CGM sensor was applied for 3-5 days using the I-Pro2 blood glucose sensor. RESULTS: Total daily dose of glargine showed a significant correlation with HbA1C (p=0.006) and percentage of glucose readings within average (p=0.039). HbA1C correlated significantly with time in range (TIR) (p=0.049). Nocturnal hypoglycemia was significantly higher in the bedtime glargine group than in the morning one (p=0.016). The morning glargine group showed better control in terms of lower HbA1C and higher TIR, but these did not reach statistical significance. Follow- up after 3 months revealed significant improvement in the percentage of hyperglycemia, BG readings within average, as well as HbA1c (p:0.001). CONCLUSIONS: Bedtime glargine administration was associated with a higher frequency of occurrence of nocturnal hypoglycemia. No statistically significant difference in glycemic control between both groups was found. CGM use improved glycemic control.

Cardiac autonomic neuropathy linked to left ventricular dysfunction in type 1 diabetic patients.

Type 1 diabetes is a major cause of cardiovascular death; diabetic cardiomyopathy (DCM) is the most important cause of mortality among diabetic patients. There is an increasing body of evidence that the most important inducer of DCM is microvascular injury. The aim of this study is to establish a potential relationship between low frequency/high frequency (LF/HF) ratio and DCM and to set a possible predictive cutoff of LF:HF ratio for early detection of DCM. Methods: 75 type 1 diabetic patients together with 75 controls were assessed using tissue Doppler imaging for left ventricular (LV) and right ventricular (RV) diastolic function, and heart rate variability (HRV) indices including LF/HF ratio. Type 1 diabetic patients were also assessed for parameters of glycemic and lipid profile control. Results: Cases showed a statistically significant increase in LF/HF ratio compared to controls reflecting reduced HRV. Also, LV and RV diastolic function were reduced in cases compared to controls, there was a significant correlation between LV E/E' ratio (ratio of early transmitral velocity and average early mitral annular and basal septal velocities) and LF/HF ratio. LF/HF ratio was able to predict LV diastolic dysfunction as expressed by the LV E/E' ratio with a sensitivity of 96%. Conclusion: HRV indices notably LF/HF ratio seem to be an early and sensitive predictor of DCM, the latter finding not only underlines the role of microvascular injury in the induction of DCM but might help also for the early detection and reversal of it.

Effect of high protein and fat diet on postprandial blood glucose levels in children and adolescents with type 1 diabetes in Cairo, Egypt.

BACKGROUND AND AIMS: To determine the effect of high protein and high fat meals on post prandial glycemia in patients with type 1 diabetes. METHODS: This study included 51 children and adolescents with type 1 diabetes who were following up at Diabetes, Endocrine and Metabolism Pediatric Unit (DEMPU), Abo Elrish Children's hospital, Cairo University. Post prandial blood glucose levels were recorded and compared following three breakfast meals with varying protein and fat content (standard carbohydrate meal, high fat meal, and high protein meal) over a period of 5 hours on 3 consecutive days. RESULTS: High protein meal resulted in hyperglycemia with the peak level at 3.5 hours and continued for 5 hours post prandial while high fat meal caused early hyperglycemia reached the peak at 2 hours then declined towards 5 hours. Comparison of the three different breakfast meals revealed statistically significant difference regarding the postprandial glycemia at 30, 60, 90,120, 180, 210, 240, 270, 300 min. CONCLUSION: Meals high in protein caused sustained increase in postprandial glucose levels over a period of 5 h. However, high fat meals caused early postprandial hyperglycemia. Protein and fat content of meals affect the timing and values of the peak blood glucose as well as the duration of postprandial hyperglycemia. Therefore, fat/protein unit should be taken in consideration while calculating the bolus insulin dose and anticipating the postprandial glucose response.

Ghrelin, obestatin and the ghrelin/obestatin ratio as potential mediators for food intake among obese children: a case control study.

Background Ghrelin and obestatin are two gastric hormones encoded by the same preproghrelin gene that convey information concerning nutritional status to the central nervous system. Ghrelin has been considered as an appetite stimulating peptide that has a role in the regulation of energy homeostasis. Obestatin has been described for its appetite suppressing effects opposing ghrelin's effect on food intake. The study aimed to evaluate ghrelin, obestatin and the ghrelin/obestatin ratio in obese children compared to non-obese and correlate them to food macronutrients intake. Methods This study is a cross-sectional case control study comprising 60 obese children, in addition to 31 age- and sex-matched controls. All children were subjected to clinical examination, anthropometric assessment, and a 3-day 24-h dietary recall. Fasting serum ghrelin and obestatin levels were evaluated, the ghrelin/obestatin ratio was calculated and they were correlated to macronutrients intake. Results Obese children had significantly lower serum fasting levels of ghrelin, obestatin and the ghrelin/obestatin ratio than the control group. The mean intake of total energy and macronutrients was significantly higher in obese children. Ghrelin showed positive correlation with total energy and fat intake in the obese group. Obestatin had positive correlations with total energy and fat intake while the ghrelin/obestatin ratio had a negative correlation with the total energy intake in the control group. Conclusions Ghrelin, obestatin and the ghrelin/obestatin ratio were significantly lower in obese children and significantly associated with their total energy intake. Disturbed ghrelin to obestatin balance may have a role in the etiology and pathophysiology of obesity.

The value of different insulin resistance indices in assessment of non-alcoholic fatty liver disease in overweight/obese children.

OBJECTIVE: The aim of the present study was to determine the association between insulin resistance (IR) and both non-alcoholic fatty liver disease (NAFLD) and metabolic syndrome (MetS) in a group of Egyptian overweight/obese children and adolescents and to evaluate different IR indices in detection of NAFLD. PATIENTS AND METHODS: The study included 76 overweight/obese children aged 2-15 years; 52.6% were males. Laboratory analysis included fasting blood glucose, serum insulin, lipid profile, liver biochemical profile, and liver ultrasound. IR was calculated using the following indices; the homeostasis model assessment method (HOMA-IR), the quantitative insulin-sensitivity check index (QUICKI) and hepatic insulin sensitivity. The National Cholesterol Education Program Adult Treatment Panel III criteria were used to estimate prevalence of MetS. Liver biopsy was done when medically indicated and accepted by parents. RESULTS: IR was detected in 43.4% and 34.2% by using QUICKI and HOMA, respectively. MetS was detected in 36.8% and NAFLD was detected in 45.5% among those performing liver biopsy. Cases with NAFLD had more frequent IR than children with normal histology. QUICKI showed significant difference between normal subjects and both steatosis and non-alcoholic steatohepatitis; while HOMA-IR was sensitive in cases with NASH only. MetS was present in 100% of patients with NASH and in 75% of those with steatosis and they were all obese. Patients with NASH had significantly higher ALT than those with normal histology. CONCLUSION: IR was significantly associated with NAFLD. QUICKI is considered more sensitive than HOMA-IR in differentiating simple steatosis from normal liver histology.

A study of familial Mediterranean Fever (MEFV) gene mutations in Egyptian children with type 1 diabetes mellitus.

BACKGROUND/AIMS: An association of type 1 DM and familial Mediterranean fever (FMF) has been newly reported in the medical literature. The aim of the present work was to investigate frequency of MEFV gene mutations in Egyptian children with type 1 diabetes mellitus. METHODS: Forty five children with type 1 DM were screened for Mediterranean Fever (MEFV) gene mutation. Forty one healthy control subjects were included. Identification of FMF gene mutation was done based on polymerase chain reaction (PCR) and reverse hybridization. The assay covers 12 mutations in the FMF gene: E148Q - P369S - F479L - M680I (G/C) - M680I (G/A) - I692del - M694V - M694I - K695R-V726A - A744S and R761H. RESULTS: Among the screened diabetics, the overall frequency of MEFV gene mutations was 42.2% and among the control group it was 34.1% with no significant difference. Fourteen out of 45 diabetic children (31.1%) were heterozygous (E148Q in 7 children, A744S in 3 children, V726A in 2 children, M680I (G/C) in 1 child and P369S in1 child), while 5 children (11.1%) were compound heterozygous (M694V/M694I in 2 children, E148Q/K695R mutations in 1 child, E148Q/M694I in 1 child and E148Q/V726A in 1 child). The control group showed heterozygous mutation in 34.1% of cases (E148Q mutation in 14.6%, V726A in 12.2%, M680I (G/C) in 4.9% and M694V in 2.4%). CONCLUSION: No significant difference in mutation frequency between diabetic and non-diabetic children. We have high carrier rate of MEFV gene mutations among Egyptian population probably due to high consanguinity.

The effect of tailoring of cornstarch intake on stature in children with glycogen storage disease type III.

AIM: To determine the individual fasting tolerance for patients with glycogen storage disease type III (GSD III) and to assess their linear growth velocity after tailoring of dose intervals of oral uncooked cornstarch. PATIENTS AND METHODS: A prospective cohort study included 32 patients with GSD III aged 6 months-11.5 years (median: 3.3 years). The fasting tolerance of each patient was determined as the time interval between starch administration until the drop in blood glucose level was below 60 mg/dL. RESULTS: Some 27 patients (84.4%) developed hypoglycemia. The intervals between oral cornstarch administration were tailored for each child according to his/her individual fasting tolerance. After a 6-month follow up there was a significant reduction in seizure attacks (p<0.01) and liver size (p<0.01), but there was no statistically significant difference in liver transaminase and serum lactate levels. There was a significant improvement in height (p<0.01) and linear growth velocity (p<0.05) of these patients after at least a 12-month follow up. CONCLUSION: Adjusting the intervals between the cornstarch doses for each patient with GSD III, according to individual fasting tolerance test was very beneficial and resulted in improvement of the linear growth velocity and reduction in the frequency of hypoglycemic seizures as well as the size of the liver. Individual scheduling of cornstarch doses prevents complications in those who develop hypoglycemia at short intervals; it also allows some relaxation in schedule for those who can tolerate longer fasting hours to improve their appetite and prolong their uninterrupted sleep hours.

Glycogen storage disease type III in Egyptian children: a single centre clinico-laboratory study.

BACKGROUND AND STUDY AIMS: Glycogen storage disease type III (GSD III) is an autosomal recessive disorder caused by deficiency of glycogen debrancher enzyme and is characterised by clinical variability. PATIENTS AND METHODS: We herein describe the clinical and laboratory findings in 31 Egyptian patients with GSD III presenting to the Paediatric Hepatology Unit, Cairo University, Egypt. RESULTS: Eighteen patients (58%) were males. Their ages ranged between 6 months to 12 years. The main presenting complaint was progressive abdominal distention in 55%. Twelve patients (38.7%) had a history of recurrent attacks of convulsions; four had an erroneous diagnosis of hypocalcaemia and epilepsy. Doll-like facies was noted in 90%. Abdominal examination of all cases revealed abdominal distention and soft hepatomegaly which had bright echogenicity by ultrasound. Hypertriglyceridaemia was present in 93.6%, hyperlactacidaemia in 51.6% and hyperuricaemia in 19.4%. Liver biopsy showed markedly distended hepatocytes with well distinct cytoplasmic boundaries and 32% had macrovesicular fatty changes. Serum creatine kinase was elevated in 64.6% of patients and correlated positively and significantly with age (r=0.7 and P=<0.001), while serum triglycerides correlated negatively with age (r=-0.4 and P=0.05). CONCLUSION: Blood glucose assessment and search for hepatomegaly in an infant with recurrent seizures may prevent delay in the diagnosis. A huge soft liver reaching the left midclavicular line that appears echogenic on ultrasonography is characteristic of GSD III. A distended hepatocyte with rarified cytoplasm is pathognomonic but not diagnostic. Hypertriglyceridaemia correlates negatively with age, in contrary to CK level.

Analysis of the gene coding for steroidogenic factor 1 (SF1, NR5A1) in a cohort of 50 Egyptian patients with 46,XY disorders of sex development.

OBJECTIVE: Steroidogenic factor 1 (SF1, NR5A1) is a key transcriptional regulator of genes involved in the hypothalamic-pituitary-gonadal axis. Recently, SF1 mutations were found to be a frequent cause of 46,XY disorders of sex development (DSD) in humans. We investigate the frequency of NR5A1 mutations in an Egyptian cohort of XY DSD. DESIGN: Clinical assessment, endocrine evaluation and genetic analysis of 50 Egyptian XY DSD patients (without adrenal insufficiency) with a wide phenotypic spectrum. METHODS: Molecular analysis of NR5A1 gene by direct sequencing followed by in vitro functional analysis of the two novel missense mutations detected. RESULTS: Three novel heterozygous mutations of the coding region in patients with hypospadias were detected. p.Glu121AlafsX25 results in severely truncated protein, p.Arg62Cys lies in DNA-binding zinc finger, whereas p.Ala154Thr lies in the hinge region of SF1 protein. Transactivation assays using reporter constructs carrying promoters of anti-Müllerian hormone (AMH), CYP11A1 and TESCO core enhancer of Sox9 showed that p.Ala154Thr and p.Arg62Cys mutations result in aberrant biological activity of NR5A1. A total of 17 patients (34%) harboured the p.Gly146Ala polymorphism. CONCLUSION: We identified two novel NR5A1 mutations showing impaired function in 23 Egyptian XY DSD patients with hypospadias (8.5%). This is the first study searching for NR5A1 mutations in oriental patients from the Middle East and Arab region with XY DSD and no adrenal insufficiency, revealing a frequency similar to that in European patients (6.5-15%). We recommend screening of NR5A1 in patients with hypospadias and gonadal dysgenesis. Yearly follow-ups of gonadal function and early cryoconservation of sperms should be performed in XY DSD patients with NR5A1 mutations given the risk of future fertility problems due to early gonadal failure.

Nesfatin-1 in childhood and adolescent obesity and its association with food intake, body composition and insulin resistance.

Nesfatin-1 is an anorexigenic peptide that controls feeding behavior and glucose homeostasis. However, there is little data that exists regarding nesfatin-1 secretion in obese children and young adolescents. The aim of this study is to investigate serum nesfatin-1 in childhood and adolescent obesity and to study potential correlations with food intake, anthropometric indices, body composition and insulin resistance. Forty obese children and adolescents and 40 healthy control subjects were studied. Anthropometric measurements were assessed, dietary food intake was evaluated based on 3-days food record and body composition indices were evaluated using bioelectrical impedance analysis. Lipid profile, fasting blood sugar, fasting insulin and HOMA-IR were measured. Fasting serum nesfatin-1 was quantitatively assayed by ELISA. Serum nesfatin-1 was significantly higher in obese group (2.49±1.96 ng/ml) than in control group (0.70±0.81 ng/ml), P=0.001. Positive correlations with serum insulin (P=0.001), HOMA-IR (P=0.000), BMI-SDS (P=0.04), body fat % (P=0.000), fat mass (P=0.000), fat free mass (P=0.03), CHO % (P=0.000), and saturated fat % (P=0.01) were found. While significant negative correlation with protein % (P=0.000) was observed. In conclusion, our results denote that nesfatin-1 might have an important role in regulation of food intake and pathogenesis of insulin resistance in obese children and young adolescents.

Study of primary IGF-1 deficiency in Egyptian children with idiopathic short stature.

BACKGROUND/AIMS: Primary insulin-like growth factor-1 (IGF-1) deficiency (IGFD) is defined by low levels of IGF-1 without growth hormone (GH) deficiency and absence of secondary causes. The aim of this study was to evaluate IGF-1 in Egyptian children with idiopathic short stature (ISS) and describe patients with IGFD. METHODS: This cross-sectional study included 50 children with ISS following up at the Diabetes Endocrine and Metabolism Pediatric Unit at Cairo University Pediatric Hospital. Children were included based on the following criteria: (1) short stature with current height standard deviation score (SDS) ≤-2.5; (2) age between 2 and 9 years in boys and 2 and 8 years in girls, and (3) prepubertal status. Exclusion criteria were: (1) identified cause of short stature and (2) pubertal children. IGF-1-deficient children were defined as children without GH deficiency and with IGF-1 levels below the 2.5th percentile. RESULTS: Among 50 children with ISS, 14 (28%) patients had low IGF-1 levels, consistent with the diagnosis of primary IGFD. When compared with non-IGFD children, IGFD children had lower birth weight SDS (-1.8 vs. -0.7 SDS, p < 0.0001) and lower height SDS (-4.2 vs. -3.1 SDS, p < 0.05) and more delayed bone age (2.6 vs. 1.6 years, p = 0.001). CONCLUSION: Primary IGF-1 deficiency is found in 28% of children with ISS.

Ultrasonography as a non-invasive tool for detection of nonalcoholic fatty liver disease in overweight/obese Egyptian children.

INTRODUCTION: Liver biopsy, although a gold standard in diagnosis of nonalcoholic fatty liver disease (NAFLD), is an invasive and expensive tool. AIM: To assess the diagnostic accuracy of abdominal ultrasound in detecting NAFLD among a group of overweight/obese children having one or more liver abnormality (clinical hepatomegaly, raised ALT or echogenic liver parenchyma by ultrasound). METHODS: Seventy-eight overweight/obese children were referred to the Pediatric Hepatology Unit, Cairo University Pediatric Hospital, Egypt, for assessment for hepatic abnormalities. Out of the 78 children, 34 had one or more abnormality in the form of clinical hepatomegaly, raised alanine aminotransferase (ALT) and/or echogenic liver parenchyma by ultrasound. All 34 cases underwent liver biopsy for evaluation for NAFLD. RESULTS: Histological NAFLD was detected in 15 cases; 8 simple steatosis and 7 nonalcoholic steatohepatitis (NASH). Sonographic evaluation of hepatic parenchymal echogenicity revealed: 11 with grade 1 echogenicity, 12 with grade 2 and 9 with grade 3 while only 2 had normal liver echopattern. Ultrasonography was 100% sensitive and 100% specific in detecting histological NAFLD, while the positive predictive value (PPV) was 47% and negative predictive value (NPV) was 11%. After consolidating the included children into 2 groups: the first including normal and grade 1 echogenicity and the second including grades 2 and 3, the sensitivity of ultrasonography in detecting histological NAFLD was still 100%, while negative predictive value increased to 100% with an accuracy of 82%. CONCLUSION: We conclude that ultrasonography is an important non invasive tool in assessment for NAFLD. Normal or grade 1 hepatic echogenicity can soundly exclude histological NAFLD and obviates the need for liver biopsy.

The association of metabolic syndrome, insulin resistance and non-alcoholic fatty liver disease in overweight/obese children.

BACKGROUND/AIM: To study the prevalence of metabolic syndrome (MS), insulin resistance (IR) and non-alcoholic fatty liver disease (NAFLD) in overweight/obese children with clinical hepatomegaly and/or raised alanine aminotransferase (ALT). PATIENTS AND METHODS: Thirty-three overweight and obese children, aged 2-13 years, presenting with hepatomegaly and/or raised ALT, were studied for the prevalence of MS, IR and NAFLD. Laboratory analysis included fasting blood glucose, serum insulin, serum triglycerides (TG), total cholesterol, high-density lipoprotein cholesterol (HDL-c), low-density lipoprotein cholesterol (LDL-c) and liver biochemical profile, in addition to liver ultrasound and liver biopsy. RESULTS: Twenty patients (60.6%) were labeled with MS. IR was present in 16 (48.4%). Fifteen (44%) patients had biopsy-proven NAFLD. Patients with MS were more likely to have NAFLD by biopsy (P=0.001). Children with NAFLD had significantly higher body mass index, waist circumference, ALT, total cholesterol, LDL-c, TG, fasting insulin, and lower HDL-c compared to patients with normal liver histology (P< 0.05) and fitted more with the criteria of MS (80% vs. 44%). IR was significantly more common among NAFLD patients (73% vs. 28%). CONCLUSION: There is a close association between obesity, MS, IR and NAFLD. Obese children with clinical or biochemical hepatic abnormalities are prone to suffer from MS, IR and NAFLD.

Genetic polymorphisms in non-alcoholic fatty liver disease in obese Egyptian children.

BACKGROUND/AIM: Polymorphisms in the promoter of microsomal triglyceride transfer protein (MTP) lead to decreased MTP transcription, less export of triglyceride from hepatocytes, and greater intracellular triglyceride accumulation. Therefore, functional polymorphisms in MTP may be involved in determining susceptibility to nonalcoholic steatohepatitis (NASH). The aim of this study is to examine the effect of some genetic influences among a group of obese Egyptian children. PATIENTS AND METHODS: A cross-sectional study was conducted on 76 overweight and obese children presenting to the Pediatric Endocrinology Unit, Cairo University Children's Hospital, Egypt, as well as on 20 healthy controls. Anthropometric measurements were taken for all the patients and they underwent clinical examination, ultrasonographic examination of the liver, and liver biopsy when appropriate. Liver functions, blood glucose, serum insulin, C-peptide, and lipid profile were assessed and HOMA-IR calculated. Blood samples from biopsy-proven NASH patients and controls were analyzed by polymerase chain reaction (PCR) and restriction fragment length polymorphism for the -493 G/T polymorphism in the promoter of MTP and the 1183 T/C polymorphism in the mitochondrial targeting sequence of manganese superoxide dismutase (MnSOD). RESULTS: Eight had biopsy-proven simple steatosis and 7 had NASH. NASH patients had a much higher incidence of the MTP G/G genotype (P = 0.002, CI: 2.9-392) compared with the controls. NASH patients also had a 100% prevalence of the MnSOD T/T genotype. CONCLUSION: Certain genotypes in MTP and MnSOD are significantly more prevalent among obese children with NASH and may be responsible for such a phenotype.

Predictors of non-alcoholic fatty liver disease in obese and overweight Egyptian children: single center study.

BACKGROUND/AIM: Pediatric non-alcoholic fatty liver disease (NAFLD) is a global problem which has been increasingly recognized with the dramatic rise in pediatric obesity. The aim of the present study was to identify the clinical, sonographic, and biochemical predictors for NAFLD in obese children. MATERIALS AND METHODS: Seventy-six children (2-15 years) were included after an informed consent. All were subjected to full anthropometric assessment (including height, weight, body mass index, subscapular skin fold thickness, waist and hip circumference and calculation of waist: hip ratio), biochemical assessment of liver function tests, lipid profile and insulin resistance and sonographic assessment of hepatic echogenicity. Liver biopsy when indicated, was done in 33 patients. RESULTS: Sixteen patients (21%) had elevated ALT and 6 (7.9%) had elevated AST. Significant dyslipidemia (low HDL-c, high total cholesterol, high LDL-c and triglycerides) and higher insulin resistance were found in obese patients (P<0.01). The main sonographic findings were hepatomegaly in 20 patients (26.3%) and echogenic liver in 41 patients (53.9%). Liver biopsy showed simple steatosis in eight cases (24.2%) and non-alcoholic steatohepatitis (NASH) in seven cases (21.2%). Anthropometric measurements, increased hepatic echogenicty by ultrasound, insulin resistance and lipid profile were good predictors of NAFLD in obese children if assessed together. However, LDL-c was the only sensitive predictor (independent variable) for NAFLD in both uni- and multivariate logistic regression analyses. CONCLUSION: Dyslipidemia per se is a strong predictor of NAFLD among obese Egyptian children.

Facilitation of amblyopia management by laser in situ keratomileusis in children with myopic anisometropia.

PURPOSE: To evaluate the effects of Laser in situ keratomileusis (LASIK) in decreasing myopic anisometropia in children with spectacles or contact lens intolerance and its validity in facilitating treatment of resultant myopic anisometropic amblyopia. PATIENTS AND METHODS: LASIK was performed for 18 eyes of 18 children having myopic anisometropic amblyopia not successfully treated with the standard amblyopia treatment for 6 months. Children were followed up at 1 week, 1, 2, 6, 12, 18, and 24 months. Postoperative amblyopia therapy was continued with occlusion of the dominant eye for 6 hr daily for the first 3 months and then for 4 hr per day as long as possible. RESULTS: The mean spherical equivalent refraction in the operated eye had reduced significantly from -9.25 +/- 3.43D preoperatively to -1.5 +/- 1.23D at 2 years postoperatively. The mean spherical equivalent in the non operated fellow eye was -1.0 +/- 1.18D preoperatively and -2.25 +/- 1.05D at 2 years. The mean spherical equivalent myopic anisometropia was -7.75 +/- 2.34D preoperatively and -0.5 +/- 0.31D at 2 years, representing a 93.5% reduction in myopic anisometropia. At 6 months, 14 eyes (77.8%) were within +/-1D of the targeted refraction and at 2 years, 10 eyes (55.6%) were within +/-1.0D. The mean regression value was -2.25 +/- 1.7D, however, 15 eyes (83.3%) were within 3.0D of the fellow eye. The mean BCVA was significantly improved from 0.26 +/- 0.21 preoperatively to 0.82 +/- 0.17 by 2 years after LASIK with amblyopia treatment. CONCLUSION: LASIK is a safe and effective alternative method for correcting myopic anisometropia facilitating treatment of amblyopia, only considerd in children with spectacles or contact lens intolerance, with more improved visual acuity and binocular vision.

Prevalence of hepatic abnormalities in a cohort of Egyptian children with type 1 diabetes mellitus.

BACKGROUND AND AIM: Children with type 1 diabetes mellitus (T1DM) are frequently investigated for hepatic abnormalities. This study was carried out to report on the prevalence of hepatic abnormalities in diabetic children and adolescents and to highlight the possible etiology and appropriate management. METHODS: The study included 692 children (333 were males) with T1DM attending the Diabetes Unit at Cairo University Pediatric Hospital. Their mean age was 9.65 ± 4.18 yr. All children were subjected to clinical examination for hepatomegaly, determination of alanine aminotransferase (ALT) and antibodies to hepatitis C virus (anti-HCV), and abdominal ultrasonography. All children with clinical, laboratory or ultrasound abnormality were counseled about proper glycemic control and followed up. If abnormalities persisted, more detailed investigations were carried out. HCV RNA was done for anti-HCV positive children. RESULTS: Sixty (8.7%) were found to have one or more abnormalities: clinical hepatomegaly in 13 (1.9%), elevated ALT in 27 (3.9%), anti-HCV in 25 (3.6%) and abnormal hepatic ultrasound in 31 (4.5%). Forty percent of anti-HCV positive children were HCV-RNA positive. Glycogenic hepatopathy was diagnosed in three cases by liver biopsy. Abnormalities were reversible in 37/60 after proper glycemic control. CONCLUSION: Although diabetic children are at risk of acquisition of HCV, poor glycemic control is the key factor that predisposes to hepatomegaly, elevated ALT and abnormal ultrasound findings. A 4 to 8-wk therapeutic trial of proper glycemic control is recommended prior to more invasive diagnostic procedures.

Bone mineral density, bone turnover markers, lean mass, and fat mass in Egyptian children with congenital adrenal hyperplasia.

INTRODUCTION: Aim of this paper is to assess bone mineral density (BMD) and body composition, by dual energy X-ray absorptiometry (DXA), and various markers of bone growth, in a group of children with congenital adrenal hyperplasia (CAH) on long-term glucocorticoid therapy. MATERIAL AND METHODS: A case-control study included thirty patients with CAH with different states of metabolic control. Their mean age was 7.5 ±4.2 years. All patients are subjected to BMD using DXA at the neck of the femur and lumbar spine. A blood sample was taken for assessment of osteocalcin, osteoprotegerin, and procollagen type 1, as markers of bone formation, as well as RANKL and urinary deoxypyridinoline (DPD), as markers of bone resorption. RESULTS: We found no difference in BMD in patients and control subjects; however, patients showed significantly lower serum osteocalcin (p = 0.008) and osteoprotegerin (p = 0.0001) and significantly higher serum RANKL levels (p = 0.0001). Our results show that patients had significantly lower lean body mass (p = 0.005) and fat/lean ratio (p = 0.008) compared to matched controls. The duration of treatment showed a significant negative correlation with procollagen type 1 (r = -0.49, p = 0.02) and lean mass % (r = -0.43, p = 0.04); however, it showed a significant positive correlation with total fat mass % (r = 0.6, p = 0.0006), and fat/lean ratio (r = 0.43, p = 0.04). Dose of steroid had a significant positive correlation with BMI SDS (r = 0.4, p = 0.02). CONCLUSIONS: Bone mineral density is normal but bone turnover is low in patients with CAH. There is an increase in fat/lean mass in patients with CAH.