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Aim: The study aims to evaluate the pattern of cardiac affection among Down Syndrome pediatric patients. Methods: A case series study included 102 children was conducted in tertiary University Hospital between Feburary 2022 and June 2023. The questionnaire was used including the socio-demographic characteristics, nutritional history, motor development, mental and social development and examination. Results: The current study recruited a total of 102 children with Down syndrome. A total of (45.1%) patients had clinically cardiac affection and (54.90%) without cardiac affection. The participiants majority were < 1 years old (63.7%), males (58.8%) and majority of patients came from rural areas (87.3%). Majority of mothers were multiparous (27.45%) The current study found that advanced age of the mother not a risk factor for occurrence of Down syndrome as the study reveal median maternal age 35.5(18-50) and had Down syndrome child. In the current study was found that Breast Feeding was fairly common in those children (31.4%) but with no significant difference between those with cardiac affection and those without cardiac affection. Both groups had insignificant differences as regard demographic, obstetric and comorbidities with exception of residence where majority of both groups came from rural areas with higher frequency of rural residency among those without cardiac affection (94.65 vs. 78.3%; p= 0.01). In the current study found that the most frequency cardiac lesions were ASD with VSD that present in (45.7%) children, isolated ASD (15.2%), isolated VSD (6.5%) and VSD& PFO (6.5%).


Few data are available concerning the roles of polymorphisms of inosine triphosphatase (ITPA) gene and ribavirin (RBV) transporter genes in the prediction of RBV‐induced anaemia among Egyptians with chronic hepatitis C (CHC). Genotyping of three ITPA gene variants and two variants of RBV transporter genes has been performed in 123 patients under pegylated interferon‐α/ribavirin treatment. The baseline haemoglobin and ITPA rs1127354 CA/AA have been found as predictors of anaemia at 4, 8 and 12 weeks of RBV therapy. In addition, ITPA rs7270101 AC/CC and age predicted anaemia after 12 weeks of therapy. In conclusion, the ITPA variant rs1127354C>A significantly predict RBV‐induced anaemia during the first 3 months of treatment and it is recommended to be assessed before RBV administration