Parathyroid hormone in pediatric patients with b-thalassemia major and its relation to bone mineral density; a case control study

Background: Thalassemia syndromes are heterogeneous groups of inherited anemias. Its treatment depends on recurrent blood transfusion with a problem of iron overload, which leads to multiple endocrinopathies including hypoparathyroid. The aim of the study is to estimate the level of serum parathyroid hormone and its relation to bone mineral density in transfusion dependent beta-thalassemia major children

Subjects and methods: We measured serum calcium, phosphorus and parathyroid hormone in a sample of pediatric patients with thalassemia, compared them with age and sex matched healthy control. Measurement of bone mineral density by dual-energy X-ray absorptiometry was done in 2 sites: lumbar spine [L2-L4] in the anteroposterior position and left femur neck using Lunar Densitometry in osteoporosis Unit Ain Shams University Hospital for thalassemia patients

Results: Thalassemic patients had significantly higher alkaline phosphatase and lower bone mineral density

Conclusion: Osteopenia in b-thalassemia major patients is multifactorial and is mainly predisposed by defective function of the parathyroid gland and excessive iron deposition

Study of relationship between g894t variant of endothelial Nitric oxide synthase gene and acute ischemic stroke

Background: cerebral stroke [CS] is considered as one of the major causes of death and disability worldwide. Ischemic stroke is the most common type of stroke in Egypt, as in other countries, accounting for 43% to 79% of all stroke types .There are some traditional factors that increase the risk of ischemic stroke such as hypertension and smoking, but genetic risk factors, suggested by evidence from inheritance-based studies, might contribute to predisposition to ischemic stroke. Among investigated genetic variations of eNOS is G894T polymorphism that leads to a change of glutamate to aspartate at site 298 and is said to have increased susceptibility to cleavage of eNOS enzyme which contribute to the development of stroke

Patients and methods: the study was conducted on a group of thirty [30] Egyptian patients admitted to the Neurology Department and Stroke Units of Ain Shams University hospitals [Al-Demerdash hospital].They were presented with acute ischemic stroke in the first 48 hours and diagnosed according to clinical neurological and radiological examinations. Oral informed consents were obtained either from the patients or their relatives before enrollment in the study according to the Ethical Committee of Faculty of Medicine, Ain Shams University. In addition, ten [10] Egyptian apparently healthy, age and sex- matched subjects were investigated as control group. All individuals included in this study were subjected to full history taking, thorough general, neurological and radiological assessment. The laboratory investigations included complete blood count, coagulation profile, and blood glucose level assay. Furthermore, eNOS G894T gene polymorphism was assessed by PCR- RFLP

Results: in this study, we couldn't find a significant association between eNOS G894Tgene polymorphism and acute stroke Egyptian patient

Cytokeratin 20: a new promising marker for colorectal carcinomas

Colorectal carcinoma [CRC] is one of the most common malignancies. Inspire of successful resection of the primary Tumour, metastasis is one of the most important factors determining the patient's prognosis. The present study was initiated to detect disseminated cancer cells in LNs and peripheral blood of patient's with CRC via detection of cytokeratin 20 [CK20] mRNA expression by conventional and real time reverse transcriptase polymerase chain reaction [RT-PCR]. This study included 34 patients with early stage CRC who have undergone total tumor resection, and were proved to be node negative histopathology. The study also included two control groups; a pathological control group [n = 10] suffering from ulcerative colitis and a healthy control group [n = 21], who have undergone pelvic repair for rectal prolapse and were otherwise completely free. For all subjects, serum CEA was measured in addition to cull routine laboratory investigations. Conventional PCR for detection of CK20 mRNA was [lone in both peripheral blood and lymph node samples for all participants. Whereas, quantitative real time RT-PCR for detection of CK20 mRNA was done for lymph node samples of the patient group only. Results of' the present study showed that all peripheral blood samples tested by conventional PCR were consistently negative for CK20 mRNA expression, whereas, mRNA was detected in the LN tissues of 16 of the 34 patients included in this study. Quantitative real-time RT-PCR appeared to be more sensitive than conventional PCR as it was able to detect CK20 mRNA in 20 out of the 34 patients included in this study. Based on the results of our realtime PCR, time patient group was divided into 20 patients with detectable mRNA and 14 with undetectable CK20 mRNA. The results of CEA levels were elevated in the former goup than time latter one, however this elevation was not statistically significant. on comparing nodal expression of CK20 mRNA in different histologic tumour types, 85. 7% of mucinous carcinoma patients showed nodal expression versus 51.9% of adenocarcinoma patients. Patients with Dukes' stag B2 showed 92.8% nodal expression versus only 35% patients with Dukes' B1 stage. Poorly differentiated tumours showed 100% nodal expression of CK20 mRNA versus 38.1% for time moderately differentiated and 66.7% for the well differentiated tumour group. In conclusion, CK20 mRNA is a valuable tool for monitoring early stage dissemination of CRC malignant cells. Real time PCR provides a more sensitive and reliable technique for detection of' disseminated cancer cells in CRC patients than the traditional PCR technique. Besides, CK20 mRNA is a promising predictor of poor prognosis being increased in mucinous, poorly differentiated and Dukes' B2 CRC patients