Correlation between the RhD genotyping and RhD serotyping in isoimmunized pregnancies

Alloimmunisation was one of the most important causes of perinatal mortality and morbidity by the middle of the last century. The objective of the present study was to investigate the presence of the RHD gene in fetal cells (amniocytes) obtained from amniotic fluid by genotyping to compare it with the RhD serotyping. Also to correlate the presence of RhD gene with the neonatal outcome. This work was carried out at Maternity hospital and Medical Genetics center, while PCR testing was done at the Medical Research center, Faculty of Medicine, Ain Shams University in the period from 2008 to 2010. The present study included recruiting of 20 RhD negative (sensitized to the RhD antigen) pregnant mothers. The entire study group was subjected to complete general, obstetric and a detailed obstetric ultrasonographic examination. Rh typing and indirect Coomb’s test were also done. Amniocentesis was performed with a 20-gauge needle under continuous ultrasound guidance. RhD serotyping of the fetuses showed that, 14 fetuses (70%) were positive and six fetuses (30%) were negative. While using RhD gentyping 13 cases (65%) were positive and seven cases (35%) were negative (P value = 0.002). Among fetuses positive for RhD genotyping six fetuses (46%) had received postnatal treatment, while among fetuses negative for RhD genotyping, neither of them had received postnatal treatment (P value =0.032), which is statistically significant. From the present study we can conclude that, the identification of an antigen-negative fetus on the basis of the blood group genotype provides significant advantages in managing the pregnancy at risk for HDFN.Keywords: Maternal alloimmunization; Rhesus; RHD; Isoimmunization; Hydrops fetalis; Fetus; Rh negativ

Mitochondrial alterations in children with chronic liver disease

Background: Over recent years it has become apparent that the hepatocyte mitochondrion functions both as a cause and as a target of liver injury. Resultant dysfunction of mitochondria yields deficient oxidative phosphorylation, increased generation of reactive oxygen species, impairment of other metabolic pathways and activation of both necrotic and apoptotic pathways of cellular death.Methods: This study was conducted on 26 children and adolescents with chronic liver disease who presented to or were following up in the Pediatric Hepatology Clinic, Children’s Hospital, Ain-Shams University. They were divided into three groups according to the aetiology of liver disease (GI=patients with Wilson’s disease (WD), GII=patients with chronic hepatitis C, GIII=patients with chronic liver disease other thanWilson’s and chronic hepatitis C).Ultrasound-guided gun liver biopsies were performed, under local anaesthesia for all the 26 patients, using a modified 18-gauge truecut needle. Two liver biopsy cores were taken from each patient. One for light and electron microscopic examinations and the other was immediately immersed in liquid nitrogen to be frozen and used forstudying mitochondrial DNA deletions by PCR.Results: Liver steatosis was higher in the group of patients with Wilson’s disease and other liver disease. Electron microscopic examination of the mitochondria revealed significant mitochondrial pleomorphism in patients with Wilson’s disease and patients with chronic hepatitis C infection. Enlarged mitochondria were found to bemore prevalent among patients with chronic  hepatitis infection.Three of our patients (11.53%) had mitochondrial DNA deletions. We developed scoring system for mitochondrial affection in our patients, 7 patients (32%) were considered to have mild mitochondrial affection,9 patients (41%) had moderate mitochondrial affection, while 6 patients (27%) had severe mitochondrial affection. Four of the studied patients had no mitochondrial affection.Conclusion: Mitochondria affection is common in chronic liver disease. This mitochondrial affection might be responsible for some of the chronic liver disease manifestation such as easy fatiguability and steatosis