Evaluation of Radiation Sensitivity in Patients with Hyper IgM Syndrome.

Background: HIGM syndrome is a rare form of primary immunodeficiencies characterized by normal/increased amounts of serum IgM and decreased serum levels of other switched immunoglobulin classes. Since the affected patients are continuously infected with various types of pathogens and are susceptible for cancers, diagnostic and therapeutic tests including imaging techniques are recommended for the diagnosis and treatment of these patients, which predispose them to higher accumulated doses of radiation. Given the evidence of class switching recombination machinery defect and its association with an increased rate of DNA repair, we aimed to evaluate radiation sensitivity among a group of patients diagnosed with HIGM syndrome.

Relationship Study of The Verified H uman Epidermal Growth Factor Receptor 2 Amplification with Other Tumor Markers and Clinicohistopathological Characteristics in Patients with Invasive Breast Cancer, Using Chromogenic In Situ Hybridization.

Objective: Human epidermal growth factor receptor 2 (), as a crucial factor involved in about 20% of breast cancer cases, is one of the most reliable tumor markers to determine prognosis and therapeutic trend of this disease. This marker is generally assessed by immunohistochemistry (IHC) technique. In the cases that result of IHC test cast doubt (+2), the test should be repeated or validated by applying in situ hybridization techniques, like chromogenic in situ hybridization (CISH).

G2-lymphocyte chromosomal radiosensitivity in patients with LPS responsive beige-like anchor protein (LRBA) deficiency.

Lipopolysaccharide-responsive, beige-like anchor protein (LRBA) deficiency is an autosomal recessive primary immunodeficiency disease characterized by a CVID-like phenotype, particularly severe autoimmunity and inflammatory bowel disease. This study was undertaken to evaluate radiation sensitivity in 11 LRBA-deficient patients. Therefore, stimulated lymphocytes of the studied subjects were exposed to a low dose γ-radiation (100 cGy) in the G phase of the cell cycle and chromosomal aberrations were scored.

High frequency of microdeletion in gene family in peripheral blood leukocytes of non-obstructive azoospermia patients.

About 10-15% of non-obstructive azoospermia (NOA) patients show microdeletion in their blood leukocytes. However, if genes were involved in impaired spermatogenesis, a higher frequency of chromosomal microdeletions was expected. In this study the frequency of microdeletion was compared with gene family, i.

High frequency of de novo DAZ microdeletion in sperm nuclei of subfertile men: possible involvement of genome instability in idiopathic male infertility.

The occurrence and diagnosis of Y-chromosome microdeletions, specifically deletions of the DAZ (Deleted in Azoospermia) genes are an important issue in male infertility. Screening Y chromosome microdeletion is mainly done using polymerase chain reaction (PCR) on blood leukocytes. However, there is some evidence indicating that presence of DAZ in somatic cells might not be indicative of its presence in the germ cell lineage.

DNA damage and repair of leukocytes from Fanconi anaemia patients, carriers and healthy individuals as measured by the alkaline comet assay.

Fanconi anaemia (FA) patients show cellular sensitivity to a variety of clastogens and prominently to cross-linking agents. Although there is a long-standing clinical impression of radiosensitivity, in vitro studies have yielded conflicting results. In this study, initial radiation-induced DNA damage and kinetics of DNA repair in (60)Co gamma-irradiated leukocytes from healthy volunteers, FA patients and heterozygotes were assessed using alkaline comet assay.