Non HLA genetic markers association with type-1 diabetes mellitus

The currently available data identified IDDM1 and IDDM2 as 2 susceptibility loci for type 1 diabetes [T1D]. The major histocompatibility complex [MHC]/HLA region referred to as IDDM1 contains several 100 genes known to have a great influence on T1D risk. Within IDDM2, a minisatellite variable number of tandem repeats [VNTR] locus in the insulin gene [INS] promoter region is likely to represent the etiologic polymorphism. The aim of the present work was to study the association between genotypes and susceptibility to T1D among Egyptian diabetic children and their family members. Twenty-five nuclear Egyptian families with 27 children having T1D, aged 3-14 years, their nondiabetic 44 sibs, aged 3-15 years and their parents were included in our study. All studied children were subjected to: detailed history and family pedigree. Thorough clinical examination and anthropometric measurements. Laboratory work up of diabetes including random blood sugar [RBS] and HbA[1]C. Molecular genetics of INS was studied in four steps; nucleic acid purification, amplification, sequencing and haplotyping using flanking single nucleotide polymorphisms [SNPs] as surrogate markers for minisatellite alleles identification. Analysis of variant repeat distribution among Egyptian families combined with flanking haplotypes revealed that all our diabetic children had class I alleles of INS; 9 had class IC+, 9 had class ID+ and 9 had class ID-, while all non-diabetic family members had class III alleles of INS. Therefore the three class I alleles were considered to be equally predisposing to T1D, while class III alleles are dominantly protective. There was significant positive correlations between body mass index [BMI] and both HbA[1]C and AST liver enzyme among diabetic children with class IC+ but not other alleles; indicating that they need close monitoring of their diabetic control and liver functions beside following specific dietary regimens. It can be concluded that all class I alleles [IC+, ID+ and ID-] are equally important susceptibility factors for T1D among Egyptian children, while class III alleles [IIIA and IIIB] are dominantly protective. It is concluded also that our diabetic children with class IC+ are an especially endangered subgroup of diabetics. Genotyping for INS-VNTR alleles is recommended for diabetic children as an important step of diagnostic and follow up regimens and for their non-diabetic family members for family counseling and early identification of potential diabetics. Further studies of INS-VNTR alleles and HLA haplotypes all over Egypt are recommended to define the Egyptian susceptibility loci for T1D and their relations to the clinical and laboratory findings as an important national programs

Utility of ultrasonography in the evaluation of renal scarring using dimercaptosuccinic acid scan as the gold standard

Dimercaptosuccinic acid [DMSA] is considered the most sensitive tool for diagnosis of renal scars. This study was done to evaluate the utility of renal ultrasound scanning in detection of renal scars in children with urinary tract infection [UTI] compared to DMSA scan as the gold standard. During 4 years period, we evaluated 202 children with UTI for detection of renal scars using ultrasound and DMSA renal scanning. All patients underwent renal ultrasound and DMSA scan for detection of renal scars. Renal scars were classified into diffuse or focal types. The data were statistically analyzed to evaluate the sensitivity and specificity of renal ultrasound in detection of renal scars. Two hundred and two patients [404 renal units] scanned with ultrasound and DMSA for detection of renal scars. Male to female ratios were 1:1.8 [71 males and 131 females]. DMSA proved the presence of scars in 145 units [35.89%], Ultrasound was able to detect scars in 52 units out of 145 with sensitivity; specificity, PPV, and NPV ultrasound in detection of scars were 35.68%, 91.12%, 69.33%and 71.73%, respectively. DMSA scan detect focal scars in 85 units while diffuse one in 60 units. Ultrasound was able to detect focal scars in 20 out of 85 units [23.5%] with sensitivity, specificity, PPV, and NPV were 23.5%, 94.3%, 52.6% and 82.2% respectively. While diffuse scars in 32 units out of 60 [53.3%] with sensitivity, specificity, PPV, and NPV were53.3%, 98.5%, 86.5%and 92.5%, respectively. Although ultrasonography has a good specificity for detection of renal scarring compared with DMSA scan. Ultrasonography cannot replace DMSA scan in the evaluation of focal renal scarring. However ultrasound might be used for selection of the cases that should be underwent DMSA renal scan

Assessment of some biochemical parameters for early detection of protein energy malnutrition

Protein energy malnutrition [PEM] is a common health problem in developing countries. The mild form of PEM results in growth retardation while severe forms result in the syndromes of marasmus and kwashiorkor. Mild PEM was described as a condition in which specific or, nonspecific clinical signs, as well as nonspecific laboratory indices are present without any of the classical manifestations of nutritional deficiency. Objective of this work was to assess serum transferrin and fibronectin as a biochemical markers for early detection of PEM. We studied 42 children: 30 patients had PEM [15 cases were mild to moderate PEM and 15 cases were severe PEM] with their age ranged between 4 -36 months and the remaining 12 children were age and sex matched healthy children as controls. All studied children were subjected to: full history taking, thorough clinical examination including anthropometric measurements [weight, hight, body mass, index [BMI], and mid arm circumference [MAC]] as well as estimation of serum albumin, serum transferrin, fibronectin, Hb and urine analysis. Results revealed significant reduction in all anthropometric measurements in both mild to moderate and severe PEM patients as compared to control group . Serum albumin was significantly lowered in severe PEM as compared to control and still within normal level in mild to moderate PEM patients. Serum transferrin and fibronectin were significantly lowered in mild to moderate PEM as compared to controls and more reduction in severe form of PEM as compared to controls. Serum fibronectin and transferrin correlated positively with BMI [P <0.05] and serum albumin [P <0.001] in both mild to moderate and severe PEM. In conclusion serum fibronectin and transferrin are markedly reduced in patients with mild to moderate PEM and correlated positively with BMI and serum albumin. This represents an evidence for the role of serum fibronectin and transferrin as biochemical markers for early detection of PEM

Delayed presentation of congenital diaphragmatic hernia: diagnosis, management and outcome

Although over 90% of cases with congenital diaphragmatic hernia [CDH] are diagnosed antenatally or early at neonatal age by severe respiratory distress, some cases are diagnosed at an older age. The aim of the work was to study the clinical presentation, the pathological findings and the operative results in children with delayed presentation of CDH. Between January 2001 to September 2003, at Menoufiya University Hospitals, 14 infants [12 males and 2 females] with CDH were included in this study. The mean age was 5 +/- 2,3 months [Range, 3-9mdnths]. The presenting symptoms and signs, diagnostic procedures, operative findings, and postoperative outcome were assessed. Accidental diagnosis after routine chest X-ray for repeated attacks of chest infection was the commonest presentation in 9 patients [64.35%]; severe respiratory distress and cyanosis in 2 patients [14.3%], vomiting in 4 patients [28.6%], and weight loss in 6 patients [42.9%]. Physical signs included the absence of breathing sounds in the chest in 8 patients [57.2%], and hyper resonance in 4 [28.6%]. Sex infants [42.9%] were under weight, three of them had marasmus. A posterolateral [Bochdalek] defect of diaphragm was found in the left side in 12 infants [85.3%] and in the right side in 1 infant [7.15%], central CDH was found in 1 case [7.15%]. A hernial sac was found in I infant [7.15%]. Organs protruding into thorax included intestinal loops in 11[78.5%] children, spleen in 6 [42.6%] individuals, stomach in 10 [71.5%] and kidney, pancreas and omentum in one each [7.15%]. The associated anomalies include Ladd's band and malrotation in 4 children [28.6%], lobulated spleen in I patient [7.15%], and mild degree of pulmonary hypoplasia were found in 9 patients [64.35%]. Omphalocele, right ventricular diverticulum, and Fallot's tetralogy were found in I case [7.15%]. The defect in diaphragm was occluded by a primary repair in 13 patients, while a patch of Polypropylene mesh was used once. One infant suffered from adhesive intestinal obstruction 2 months after repair and died after re-exploration and adhesolysis. The other infants were cured up without complications. The congenital diaphragmatic hernia should be considered in differential diagnosis of every infant with unusual respiratory or gastrointestinal symptoms and abnormal X-ray picture of thorax