case of diaphragmatic hernia

Congenital diaphragmatic hernia is a rare condition addressed in the medical literature as a surgical problem. It is usually a disorder of the newborns, equally occurring in males and females. There are 3 basic types of congenital diaphragmatic hernia: the posterolateral Bochdalek hernia, the anterior Morgagni hernia, and the hiatus hernia. This is a presentation of a newborn with congenital diaphragmatic hernia and a favorable outcome after surgical repair

Prenatal diagnosis of aneuploidy among a sample of Egyptian high risk pregnancies

A number of studies have shown that aneuploidies of only 5 chromosomes [13, 18, 21, X and Y] account for about 65% of all chromosomal abnormalities and 95% of chromosomal aberrations cause live-born birth defects. Fluorescent in-situ Hybridization [FISH] has been found to be highly effective for rapidly determining the number of specified chromosomes in interphase cells. Prenatal diagnosis was performed on 40 high risk pregnancies chosen from mothers attending the Antenatal Clinic of Ain Shams University Medical genetics Center [ASUMGC]. Early amniocentesis for conventional karyotype analysis of cultured amniocytes and interphase FISH studies of uncultured amniocytes for rapid detection of aneuploidies of chromosomes [13, 18, 21, X and Y] was performed. Normal karyotype was detected in 35 cases [87.5%] and in 4 cases [10%] chromosomal abnormalities were detected by conventional karyotype. However, culture failed in one case [2.5%] due to culture contamination. FISH assay confirmed the cytogenetic findings, for the probes used, on interphase nuclei in all cases analysed, except three cases of structural chromosomal abnormalities: [46, XX, add 21[q22]; 46, XX, t[5; 20] mat, 46, XY inv[9] [p11:q13]] paternal. In one case of culture contamination, FISH analysis was useful in excluding the aberrations of specific chromosomes 13, 18, 21, X and Y on the uncultured/interphase nuclei. Molecular cytogenetic technique of FISH is very useful in urgent cases of prenatal diagnosis where it can be used on uncultured amniocytes for rapid and accurate detection of common aneuploidies

Blood lead level in children with behavioral and or psychiatric disorders

A case-control study was carried out compromising 60 children enrolled into two groups: Group I included 40 cases suffering from different behavioral and/or psychiatric disorders and group II included 20 clinically healthy children serving as controls. Full medical history taking, assessment of exposure to risk factors of lead poisoning as well as its symptomatology using a standardized questionnaire, thorough clinical examination, delineation of behavior problems using Arabic translated child behavior checklist, diagnosis of psychiatric disorders in the studied cases using DSM IV criteria, scaling of depression and anxiety using children depression inventory [CDI] and child manifest anxiety scale, respectively, for children above the age of eight years, cognitive function assessment, language age and language age delay estimation, complete blood count, blood smear examination, assessment of blood indices and estimation of blood lead level using the technique of flameless atomic absorption spectrophotometry were done for all children enrolled in the current study. The current study showed a significant direct link between blood lead level and inattentiveness, conduct disorder and socialized aggression in the studied sample of cases with behavior and/or psychiatric disorders as well as a significant negative correlation with the patients' cognitive abilities and some hematological variables; namely, hemoglobin and mean corpuscular hemoglobin

Serum and CSF electrolytes, zinc and glucose concentration in febrile convulsions; are they useful biochemical markers in such cases?

This study was designed to assess serum and CSF concentrations of sodium, potassium, zinc and blood glucose in infants and children presented with febrile convulsions in comparison with age matched healthy controls. On the other hand, it aimed to investigate the correlation between serum and CSF concentrations of those variables in enrolled cases in a trial to delineate their usefulness as biochemical markers in such cases. Twenty-one cases with febrile convulsions [FC] were included in the current study as group I [cases] and ten age matched clinically healthy children were also enrolled as group II [controls]. Full history taking, thorough clinical examination, CBC and ESR estimation, assessment of serum Na, K, Zn and blood glucose concentrations were done for all subjects included in the current study. Lumbar puncture with complete CSF examination was carried out for all cases, excluding bacterial or viral meningitis or encephalitis and determining the CSF concentrations of the previously mentioned biochemical variables. In conclusion, it was recommended to assess Na and Zn levels in cases with febrile convulsions to detect any possible deficiency and to conduct future studies to investigate the effect of their supplementation, whenever deficient, on the course and recurrence of convulsions