Risk factors for self-injurious behaviours among children with autistic disorders

The aim of this study was to assess the risk factors for self-injurious behaviours among children with autistic disorders. A descriptive exploratory design was utilized in this study. A sample of convenience of 50 autistic children were recruited from Out-patient Clinic in Institute for Postgraduate Childhood Studies-Center for Children with Special Needs [Autism Unit] in Ain-Shams University and Center for Social and Preventive Medicine [child psychiatry out-patient clinic] at Abu-EL-Rish University Hospital. Four tools were used to measure the current study variables, sociodemographic and medical data sheet, childhood autism rating scale, diagnostic self-injury behaviors scale and Vineland adaptive behavior scale. The results showed that, half of the studied sample had severe degree of autism, and severe degree of self-injury behaviors. Findings revealed that there is an association between severity of self-injury and higher degree of autism, higher communication delay, lower age and intelligent quotient. To conclude, SIBs represent a very common problem in children with autism. Further studies about SIBs on a larger number of autistic children from different geographical areas are recommended

Osteoporosis in beta-thalassemia major patients: role of COLIA1 gene G-T polymorphism

Growth impairment and osteoporosis are serious causes of morbidity in patients with beta-thalassemia major [beta-TM]. Desferoxamine [DFO] toxicity and iron overload have been proposed as the main underlying reasons. G-T polymorphism in regulatory region of COLIA1 gene has recently been associated with reduced bone mass and osteoporotic fractures in postmenopausal women. To detect the possible implication of COLIA1 gene polymorphism in pathogenesis of osteoporosis in beta-TM. Twenty five patients with beta-TM and 20 healthy controls were investigated for the G-T polymorphism of COLIA1 gene using restriction enzyme analysis. Bone mineral density [BMD], growth parameters, serum ferritin level and duration of chelation therapy were also assessed. We detected a heterozygous polymorphism of COLIA1 gene in 12% of beta-TM patients and 25% of the control group. Thalassemic patients had significant lower BMD than normal controls [p < 0.01]. Significant correlation was observed between low BMD and both duration of DFO intake and high ferritin level. Within the control group: Subjects with G/T genotype had significantly lower femoral and lumber BMD than those with G/G genotype. In thalassemic patients: No significant difference was found in BMD between the two COLIA 1 genotypes. We cannot detect evident role for COLIA1 gene polymorphism in the pathogenesis of osteoporosis in this group of beta-TM patients although this role has been detected in the control group. Further studies that include higher number of patients and more than one genetic polymorphism are needed in order to evaluate the role of genetic factors in the pathogenesis of osteoporosis in thalassemic patients

Effect transfusional of iron overload on hepatic fibrosis in Egyptian beta-thalassemia major patients

Multitransfused beta-thalassemia patients constitute a population with high prevalence of Hepatitis C virus [HCV] infection, because of transmission of HCV from infected blood donors. Increased hepatic iron is assumed to potentiate progression towards liver fibrosis in chronic HCV infection. The aim of the present work is to evaluate the potentiating effect of marked hepatic iron overload and chronic HCV infection on hepatic fibrosis in Thalassemia patients. Sixty eight patients, previously diagnosed to have homozygous beta-thalassemia and followed up at the Hematology Clinic of the New Children's Hospital of Cairo University [44 hepatitis C positive and 24 hepatitis C negative patients], were selected to participate in this study after signing a written informed consent. Their age ranged between 6 and 27 years with a mean age of 9.7 +/- 2.1 years and compared to a group of 42 non thalassemic chronic HCV patients whose age ranged between 7 and 27 years with a mean age of 10.9 +/- 1.5 years [control group]. Liver Biopsies were done for all patients for estimation of stage of hepatic fibrosis and liver iron content [LIC]. The results were then correlated to liver function tests and serum ferritin. The stage of fibrosis and LIC were significantly higher in beta-thalassemia patients than the non thalassemia HCV patients [p = 0.005, p<0.0001 respectively]. There was no significant difference between the two groups of thalassemia as regards staging of fibrosis. The degree of hepatic fibrosis was significantly correlated to the LIC in hepatitis negative thalassemic group while it was significantly correlated to serum ferritin in thalasemic patients with positive HCV. Hepatic iron overload has a potentiating effect on hepatic fibrogenesis in beta-thalassemia major. The proper use of chelating agents is of great importance in delaying progression of liver disease in these patients

Immune dysregulation associated with breast cancer

In an attempt to understand the prognostic significance of p53, apoptosis and sIL-2R in cancer breast, their serum levels were evaluated in 15 breast cancer patients by enzyme linked immunoassay. While, DNA fragmentation was assessed as a marker of apoptosis using photometric sandwich ELISA technique. Ten healthy women as controls were also included. A significant increase in serum p53 [8.18 +/- 0.4 u/ml] and apoptosis [1.56 +/- 0.32 u/ml] was recorded in cancer patients than in the control [6.29 +/- 0.38 u/ml and 0.114 +/- 0.009 u/ml, respectively]. This increase was positively correlated with the stage of carcinoma. A significant increase in serum sIL-2R was also observed in patients [1156.74 +/- 176.27 u/ml] than in the control subjects [774.145 +/- 40.641 u/ml]

Role of cytokines as markers for immunomodulation in patients with hepatitis C

In the present study, soluble interleukin-2 receptor [sIL-2R] and tumor necrosis factor-alpha [TNF-a] were measured in serum by ELISA and alpha fetoprotein was assessed by RIA in 20 patients with hepatitis C virus [HCV] infection, in addition to 10 apparently healthy subjects served as controls. The results showed an increased serum level of sIL-2R in the patients group [783.65 U/ml] than in the control subjects [774.19 U/ml]. In the same time, the mean level of TNF-alpha was also significantly elevated in patients [1.51 +/- 1.01] than in the controls [0.39 +/- 0.07 ng/ml]. Furthermore, 3 out of 20 HCV +ve patients had an elevated serum alpha-fetoprotein [AFP]