Use of Anthropometry Versus Ultrasound for the Assessment of Body Fat and Comorbidities in Children With Obesity.

OBJECTIVES: We aimed to examine the association between abdominal fat measured by ultrasound and anthropometric indices in children with obesity, and those with normal weight. We also examined the association between anthropometry and fat measures in the prediction of comorbidities in children with obesity. METHODS: Forty children with body mass index of >95th percentile were included as cases, and a comparable group of 32 healthy average-weight peers were included as controls in this study. All children underwent clinical assessment, anthropometric measures, and evaluation of abdominal subcutaneous fat (SCF) and visceral fat by ultrasound. Fasting blood sugar, serum transaminases, and lipid profile of all the included children were also evaluated. RESULTS: Children with obesity had a mean age of 8.7 ±â€Š2.9 years (range 3-13). The SCF and intraperitoneal fat (IPF) values correlated well with each other and with anthropometric measurements in children with obesity. Among all the included cases, 90% were metabolically unhealthy, 70% had hypertension, 52.5% had dyslipidemia, and 22.5% had echogenic liver. Anthropometric measures, abdominal SCF and IPF were higher in children with complications. SCF was observed as a good predictor for hepatic echogenicity among the measured ultrasound parameters (P: 0.03, odds ratio 4.6). The best cutoff value for SCF in cases with hepatic echogenicity was 23.2 mm with an overall accuracy of 80%. CONCLUSIONS: In children with obesity, abdominal SCF and IPF correlated well with anthropometric measures and were higher in children with comorbidities. This finding, however, did not predict comorbidities apart from those with echogenic liver.

Genotype Mutations in Egyptian Children with Familial Mediterranean Fever: Clinical Profile, and Response to Colchicine.

BACKGROUND: Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disorder that is characterized by recurrent episodes of fever, peritonitis, pleuritis, pericarditis, and/or arthritis. MEFV is the responsible gene for FMF, of which more than 310 mutations have been reported; M694V, M694I, V726A, E148Q, and M680I mutations are the five most frequent mutations responsible for the majority of FMF patients in the Middle East. AIM: To study the genetic background of FMF among Egyptian children to detect the most frequent MEFV mutations and to study the response of colchicine therapy with different gene mutations. METHODS: This cross-sectional study included 109 pediatric patients already diagnosed clinically with FMF, and were following-up at the Rheumatology Outpatient Clinic, Children's Hospital, Cairo University. RESULTS: Out of 109 patients, 95 had positive-MEFV mutation (87.16%), of which the most frequent mutations were E148Q (24/95 patients, 25.26%), V726A (19/95 patients, 20%), M680I (19/95 patients, 20%), M694V (17/95 patients, 17.89%), and M694I (7 patients, 7.37%). A better response to colchicine therapy was noted in E148Q mutation; on the other hand, more severe cases were reported with M694V mutations. CONCLUSION: E148Q, V726A, M680I, M694V and M694I mutations are the most frequent mutations denoting the heterogeneous mutation pattern and the milder form of the disease among Egyptian patients. M694V mutations may indicate a more severe disease score.

Focal hepatic lesions in Egyptian infants and children: the pediatric hepatologist perspective.

BACKGROUND: Hepatic focal lesions in the pediatric age group are diverse and can be broadly classified into congenital, neoplastic and infective. The aim of this paper was to describe the frequency, nature and clinical presentation of focal hepatic lesions from a pediatric hepatologist perspective. METHODS: Data were retrieved from files of all cases with focal hepatic lesions presenting to the Pediatric Hepatology Unit, Cairo University Pediatric Hospital, from January 2006 to December 2013, after the study protocol was approved by the department research committee and the institution ethical committee. RESULTS: Over an 8-year period, 38 cases had focal hepatic lesions. They constituted less than 1% of the 4475 new cases presenting to the unit over this period. The commonest lesion was hepatic hemangioma(s) (34%). Two-thirds were neoplastic lesions whether benign or malignant. Eighty percent were benign focal lesions. Infectious causes (fascioliasis and pyogenic liver abscess) accounted for 29% of cases. Hepatocellular carcinoma was the commonest malignant neoplasm; it occurred in 5 cases (13.2%) on top of a chronic liver disease. Hepatoblastoma was less common. CONCLUSIONS: From the hepatologist perspective, pediatric focal hepatic lesions are more likely to be benign. Hepatic hemangiomas are the commonest. Infectious causes are common in a developing country like Egypt. Hepatocellular carcinoma is the commoner malignant neoplasm and usually develops on a diseased liver. Screening infants and children with chronic liver disease for development of hepatocellular carcinoma is mandatory. Hepatoblastoma is less likely to present to the pediatric hepatologist as it is referred immediately to the oncologist or onco-surgeon.

Value of Ultrasound in Detecting Urinary Tract Anomalies After First Febrile Urinary Tract Infection in Children.

Background Urinary tract infection (UTI) is an infection that affects part of the urinary tract. Ultrasound is a noninvasive test that can demonstrate the size and shape of kidneys, presence of dilatation of the ureters, and the existence of anatomic abnormalities. The aim of the study is to estimate the value of ultrasound in detecting urinary tract anomalies after first attack of UTI. Methods This study was conducted at the Nephrology Clinic, New Children's Hospital, Faculty of Medicine, Cairo University, from August 2012 to March 2013, and included 30 children who presented with first attack of acute febrile UTI. All patients were subjected to urine analysis, urine culture and sensitivity, serum creatinine, complete blood count, and imaging in the form of renal ultrasound, voiding cysto-urethrography, and renal scan. Results All the patients had fever with a mean of 38.96°C ± 0.44°C and the mean duration of illness was 6.23 ± 5.64 days. Nineteen patients (63.3%) had an ultrasound abnormality. The commonest abnormalities were kidney stones (15.8%). Only 2 patients who had abnormal ultrasound had also vesicoureteric reflux on cystourethrography. Sensitivity of ultrasound was 66.7%, specificity was 37.5%, positive predictive value was 21.1%, negative predictive value was 81.8%, and total accuracy was 43.33%. Conclusion We concluded that ultrasound alone was not of much value in diagnosing and putting a plan of first attack of febrile UTI. It is recommended that combined investigations are the best way to confirm diagnosis of urinary tract anomalies.

Clinical characterization and NPHP1 mutations in nephronophthisis and associated ciliopathies: a single center experience.

Nephronophthisis (NPHP) is a recessive disorder of the kidney that is the leading genetic cause of end-stage renal failure in children. Egypt is a country with a high rate of consanguineous marriages; yet, only a few studies have investigated the clinical and molecular characteristics of NPHP and related ciliopathies in the Egyptian population. We studied 20 children, from 17 independent families, fulfilling the clinical and the ultrasonographic criteria of NPHP. Analysis for a homozygous deletion of the NPHP1 gene was performed by polymerase chain reaction on the genomic DNA of all patients. Patients were best categorized as 75% juvenile NPHP, 5% infantile NPHP, and 20% Joubert syndrome-related disorders (JSRD). The mean age at diagnosis was 87.5 + 45.4 months, which was significantly late as compared with the age at onset of symptoms, 43.8 ± 29.7 months (P <0.01). Homozygous NPHP1 deletions were detected in six patients from five of 17 (29.4%) studied families. Our study demonstrates the clinical phenotype of NPHP and related disorders in Egyptian children. Also, we report that homozygous NPHP1 deletions account for 29.4% of NPHP in the studied families in this cohort, thereby confirming the diagnosis of type-1 NPHP. Moreover, our findings confirm that NPHP1 deletions can indeed be responsible for JSRD.