Medulloblastomas and ependymomas are the most common malignant brain tumors in children. However genetic abnormalities associated with their development and prognosis remain unclear. Recently two gene fusions, KIAA1549–BRAF and SRGAP3–RAF1 have been detected in a number of brain tumours. We report here our development and validation of RT-RQPCR assays to detect various isoforms of these two fusion genes in formalin fixed paraffin embedded (FFPE) tissues of medulloblastoma and ependymoma. We examined these fusion genes in 44 paediatric brain tumours, 33 medulloblastomas and 11 ependymomas. We detected both fusion transcripts in 8/33, 5/33 SRGAP3 ex10/RAF1 ex10, and 3/33 KIAA1549 ex16/BRAF ex9, meduloblastomas but none in the 11 ependymomas examined. This investigation provided evidence to the value of RT-RQPCR assays for the detection of these fusion genes in large-scale studies on FFPE tissues. The study also reports the first detection of RAF fusion genes in meduloblstomas.
This study aimed to find relationship between thymidine kinase-1 (TK-1) as tumor marker and total antioxidant capacity (TAC) in Iraqi children patients with thrombocytopenia and with thrombocytosis. The present study conducted 60 children patients (30 patients with idiopathic thrombocytopenia purpura (ITP) and 30 patients with thrombocytosis caused by leukemia) attending the Children Fever Hospital in the Medical City / Baghdad, and 30 healthy children as a control group. All study groups were with range ages (1-15) years, and they were diagnosed by assay of platelet count, Prothrombin Time (PT), and partial Thromboplastin Time (PTT). The results shown elevation in plasma TK-1
... Show MoreBleeding disorders in pediatrics is an important issue and can be lifethreatening if not diagnosed and treated appropriately. We aimed to evaluate Iraqi pediatric practice (as an example of resource-limited settings) about the use of Recombinant Activated Factor VII (RFVIIa) in bleeding disorders, with emphasis on its effectiveness and safety, in comparison with adjuvant therapy. Budget restrictions may affect the availability of even lifesaving drugs such as (RFVIIa). Therefore, we tried to investigate the local experience of pediatric bleeding, with the evaluation of the potential ability of adjuvant therapy of blood products and vitamin K to substitute RFVIIa in case of non-availability. During a complete one year‘s period, 35 patients
... Show MorePituitary adenomas are the anterior pituitary tumors. Patients with an Aryl Hydrocarbon Receptor-Interacting Protein (AIP) mutation (AIP- mut) tend to have more aggressive tumors occurring at a younger age. Single nucleotide polymorphisms (SNPs) in many studies have been related to metabolic comorbidities in the general population. Study aims investigated the role of AIP gene SNPs with susceptibility to acromegaly pituitary- adenoma, with levels of LH, FSH, TSH, Testosterone, IGF1,GH, FT4 , Prolactin hormones and blood sugar levels. The study was conducted on a group of acromegaly patients, including 50 patients) both Genders( with hyperplasia of the ends, and apparently healthy control group. Genotyping of
... Show MoreUrine proteomics have been an area of interest and recently in Kala-azar as an alternative sample type for serum or plasma. Because of simplicity, noninvasiveness of collection and simpler matrix. Many studies had detected an increased protein excretion in the urine of patients with active Kala-azar due to renal involvement particularly by an immunological related mechanism(s). This study have demonstrated the presence of three different protein profiles in Iraqi children (Patients: including 60 children aged 4-60 months) with defined Kala-azar using the conventional SDS-PAGE on urine samples. Urine protein profile in Kala-azar patients revealed three groups of banding patterns: group-1(33.4)% of the patients show the pattern of 5
... Show MoreBackground: Osteogenesis imperfecta (OI) is a rare congenital condition that results in bone fragility, recurrent fractures, and various extra-skeletal manifestations. Currently, intravenous bisphosphonate is the mainstay of medical treatment in OI. Objective: To identify the effect of current management strategies on Iraqi children diagnosed with OI. Methods: A retrospective study enrolled OI patients who were registered in Central Child Teaching Hospital, Baghdad, Iraq, from January 2015 to December 2022. We enrolled confirmed OI cases (either clinically and/or radiologically) who received cyclic pamidronate therapy for at least 3 cycles. They neither received other types of bisphosphonates nor underwent surgical intervention. Res
... Show MoreSTAG3 is the meiotic component of cohesin and a member of the Cancer Testis Antigen (CTA) family. This gene has been found to be overexpressed in many types of cancer, and recently, its variants have been implicated in other disorders and many human diseases. Therefore, this study aimed to analyze the major variants of STAG3. Western blot (WB) and immunoprecipitation (IP) assays were performed using two different anti-STAG3 antibodies that targeted the relevant protein in MCF-7, T-47D, MDA-MB-468, and MDA-MB-231 breast cancer cells with Jurkat and MCF-10A cells as positive and negative controls, respectively. In silico analyses were searched to study the major isoforms. WB and IP assays revealed two abundant polypeptides < 191 kDa and
... Show MoreCeliac disease (CD) is an autoimmune disorder characterized by chronic inflammation that essentially affects the small intestine and is caused by eating gluten-containing foods. This study sought to determine gene expression of NLRP3 Inflammasome in peripheral blood of Iraqi CD children using quantitative real-time PCR (qRT-PCR) assay. Thirty children with CD (12 males and 18 females) were enrolled in the study and their age range was 3-15 years. The diagnosis of the disease was confirmed by serological examinations and intestinal endoscopy. A control sample of 20 age-matched healthy children was also included. The children were stratified for age, gender, body max index (BMI), histological findings, and marsh classification. Fu
... Show MoreQuantitative real-time Polymerase Chain Reaction (RT-qPCR) has become a valuable molecular technique in biomedical research. The selection of suitable endogenous reference genes is necessary for normalization of target gene expression in RT-qPCR experiments. The aim of this study was to determine the suitability of each 18S rRNA and ACTB as internal control genes for normalization of RT-qPCR data in some human cell lines transfected with small interfering RNA (siRNA). Four cancer cell lines including MCF-7, T47D, MDA-MB-231 and Hela cells along with HEK293 representing an embryonic cell line were depleted of E2F6 using siRNA specific for E2F6 compared to negative control cells, which were transfected with siRNA not specific for any gene. Us
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