Neonatal screening of the common endocrine and metabolic disorders in Menoufiya governorate

Hereditary diseases and congenital marformations have been reported to affect 2-5% of all live births; they account for up to 30% of pediatric hospital admissions, and cause about half of childhood deaths in developed countries. Available evidence suggests that genetic are important also in countries of the Eastern Mediterranean Region. The following factors may contribute to the prevalence of genetically determined disorders: the high consanguinity rates; the trend of continuing to bear children up to menopause; the general lack of public awareness about genetic diseases and the dearth of genetic services in the region. Neonatal screening tests early detect disorders in newborns for which interventions shortly after birth have obvious benefits. We aimed at screening of congenital hypothyroidism [CH], phenylketonuria [PKU], and galactosemia which are common causes of preventable mental retardation and starting their early intervention. Our study included 15.000 dried blood specimens [DBSs] from the newborns of all the ten conters of the Menoufiya governorate, as a representative random sample of the year 2007. all speciemens were analysed in neonatal screening laboratory in our genetics and endocrinology unit, pediatric department; Menoufiya University in collaboration with the central laboratories of ministry of health and population; using ELISA for TSH analysis and flourometric assay [WALLAC system, Perkin Elmer] for PKU and galactosemia screening. Preservation and transfer of DBSs were according to the recommendations of the International Society for Neonatal Screening. Because of the high costs, we randomly selected two thousands DBSs for PKU screening and another two thousands for screening of galactosemia. Out of the /5,000 DBSs, 99.84% were negative for CH [TSH < 20 ulU/ml]. Twenty five cases were borderline for CH, while 9 cases only were confirmed as CH after clinical examination and revaluation using serum samples [serum TSH > 20 ulU/ml and T4 < 0.8 ng/dl], the confirmed cases were treated according to the management schedule. So the incidence of CH in our study was 0.06%. As regards PKU screening; 93.95% of studied samples were negative [phenyl alanine < 2.1 mg/dl]. Only 21 cases were initially borderline for PKU [phenyl alanine = 2.1-3.0 mg/dl, while clinically normal] but no PKU cases were detected after revaluation. On the other side; the 2000 DBSs screened for galactosemia were negative [Galactose uridyl -1 transferase enzyme [GALT] > 3.5 u/gHb]. On conclusion, because of the high costs of mass screening for PKU and galactosemia, only screening of high risk families and neonates is recommended. On the other hand screening programs should include our more common problems as congenital deafness and hemoglobinopathies

effect of L - carnitine on acute myocardial infarction in albino rats

Recently, there is increased interest in the use of over-the-counter supplements and naturally occurring nutriceuticals for enhancement of cardiac and skeletal muscle performance. These include amino acids such as creatine, L-carnitine, and L-arginine, as well as vitamins and cofactors such as alpha-tocopherol and coenzyme Q. The present work was designed to study the effect of L-carnitine on acute myocardial infarction in anaesthetized male albino rats. The animals were divided into three groups. In the 1[st] group, the animals were injected with normal saline and served as control. In the 2[nd] group, the animals were injected with isoprenaline [300 mg/kg, S.C. as single dose] to induce acute myocardial infarction [AMI]. In the 3[rd] group the animals were pretreated with L-carnitine in a single daily dose of [500 mg/kg], orally for three successive days with the 3[rd] dose given one hour before isoprenaline injection. The studied parameters were heart rate, T -wave voltage,serum level of total creatine kinase [CK], and its isoenzyme CK-MB, and the size of infarction. The results of the present study demonstrated that isoprenaline induced AMI as proved by significant increase in all studied parameters compared with control group with infarction size around 65%. L-carnitine produced significant decrease in all studied parameters in comparison to isoprenaline. It is concluded that pretreatment with L-carnitine is effective in reducing the myocardial damage. Thus, L-carnitine has myocardial protective effect in case of AMI as proved by the results of the present study