Study of congenital malformations in infants and children in Menoufia governorate, Egypt

Congenital anomalies is one of the main causes of physical disabilities, stillbirths and neonatal deaths. The exact etiology of most congenital anomalies is unidentified but genetic and environmental causes are accused.We aimed to study congenital anomalies regarding frequency, clinical pattern and associated risk factors.A cross-sectional study was conducted on 100 infants and children with congenital anomalies attended to our pediatric genetic clinic at Menoufia University Hospital from October 2016 to October 2017. Detailed history taking, clinical examination and investigations including cytogenetic study were done.Out of 100 cases, 51% have isolated anomalies and 49% have multiple anomalies, 14.2% had chromosomal abnormalities, 44.8% were diagnosed as genetic syndromes, while we did not reach the final diagnosis in 40.8% of cases. According to the ICD-10 classification of congenital anomalies musculoskeletal system anomalies were the most common in 48% of cases, followed by anomalies of the eye, ear, face and neck in 44% of cases. Anomalies of nervous system, circulatory system, genital organs, urinary system, chromosomal abnormalities, cleft lip and cleft palate occur in 26%, 22%, 18%, 12%, 7% and 6% of cases respectively.Gastrointestinal anomalies in only 4% of cases taking into account that one case may have more than one affected system. According to the guidelines for case classification for the National Birth Defects Prevention Study, 2003, 51% had major anomalies, 18% had minor anomalies while 31% had both. Some cases had undergone immediate intervention e.g. meningomyelocele, encephalocele, omphalocele and gastroschisis. While other cases required later intervention e.g. hypospadius, cleft palate and cleft lip. Male gender, consanguineous marriage and lack of maternal folic acid supplementations were found in 54%, 43% and 59% of cases respectively, constituted the main risk factors.Subjects and methods: proper physical examination, cytogenetic and molecular studies are important for the early intervention so prevention will be possible.Keywords: Anomalies, Chromosomal, Congenital, Dysmorphic, Syndrome, Diagnosi

Genetic and other epidemiological risk factors of infants and children with hypospadias: a case control study

Abstract Background To study hypospadias as regard epidemiological risk factors and genetic association with mutations in Steroid 5 alpha reductase type 2 genes. Materials This study was conducted on two groups; the first group included 50 male children with hypospadias and the other group included 50 male healthy children as a matched control. All patients and controls were subjected to detailed history, physical examination and molecular study of 5-alpha-reductase gene polymorphisms (V89L and G34R). Results Mean age in hypospadias group was 3.28 ± 2.87 years. The most common type of hypospadias was the glanular type in 19 children (38%). Higher maternal and paternal age, consanguinity, rural residence and preterm labor carry significant epidemiological risk factors for hypospadias. According to genetic study, all healthy children carried the wild valine residue (VV) genotype, while only 44% of hypospadias cases carried the wild VV genotype and 56% carried the mutant L allele (homozygote for leucine residue and heterozygote for both valine and leucine (VL)) with high significant p value (p < 0.001). For Allele Specific—polymerase chain reaction for glycine to arginine (G34R) mutation detection in the 5 alpha reductase type 2 gene, hypospadias children had significantly higher frequency of heterozygous GR genotype than healthy controls. Binary logistic regression analysis showed that mother age and rural residence were the most independent predictors for hypospadias. Conclusions V89L and G34R Steroid 5 alpha reductase type 2 gene polymorphisms, higher maternal and paternal age, consanguinity, rural residence and preterm labor carry significant risk factors for hypospadias. On multivariate logistic regression, mother age and rural residence are the most independent predictors for hypospadias

Sort-Mid tasks scheduling algorithm in grid computing

Scheduling tasks on heterogeneous resources distributed over a grid computing system is an NP-complete problem. The main aim for several researchers is to develop variant scheduling algorithms for achieving optimality, and they have shown a good performance for tasks scheduling regarding resources selection. However, using of the full power of resources is still a challenge. In this paper, a new heuristic algorithm called Sort-Mid is proposed. It aims to maximizing the utilization and minimizing the makespan. The new strategy of Sort-Mid algorithm is to find appropriate resources. The base step is to get the average value via sorting list of completion time of each task. Then, the maximum average is obtained. Finally, the task has the maximum average is allocated to the machine that has the minimum completion time. The allocated task is deleted and then, these steps are repeated until all tasks are allocated. Experimental tests show that the proposed algorithm outperforms almost other algorithms in terms of resources utilization and makespan

Molecular study of developmental sex disorders in children

Background: Sex determination and differentiation in humans are processes that involve the interaction of several genes such as SRY, SOX9 genes which are important in the development of the male genital system. Also NR5A1 gene plays an important role in the development of gonads and the adrenal glands. Aim of the study include clinical assessment of children with disorders of sex development, molecular analyses for SRY, SOX9 and NR5A1 genes and genetic counseling for the patients and their families. Subjects and methods: This study included sixteen patients from 1 day to 6 years old attending the Genetics and Endocrinology unit, Pediatric department, Faculty of Medicine, Menoufiya University, Egypt. All cases were subjected to: detailed history, thorough clinical examination, routine and hormonal investigations, imaging studies, cytogenetic and molecular studies for SRY, SOX9 and NR5A1 genes. Results: Positive consanguinity between the parents was detected in seven patients (43.75%). Serum 17 OH progesterone was elevated in five patients (31.25%) and below normal ranges in two patients (12.5%). Cytogenetic study revealed six patients with normal (46, XX) karyotype, eight patients with normal (46, XY) karyotype, one patient had (45, X) karyotype and another with (45, X/46, XY) karyotype. Thirteen out of sixteen patients undergone molecular studies, SRY gene was +ve for six patients with normal male (46, XY) undergone and one patient with (45, X) karyotype (translocated SRY). SRY was −ve for five patients with normal female (46, XX) karyotype and one patient with (45, X/46, XY) karyotype (deleted SRY). All patients were +ve for SOX9 and NR5A1 genes and no deletions detected. Conclusion: Genetic studies beside clinical and hormonal evaluation will allow us to rapidly reach a diagnosis and to identify a ‘molecular sex’ for each patient