Bioinformatic analysis of KIT juxtamembrane domain mutations in Syrian GIST patients: jigsaw puzzle completed.

Background: The huge number of detected somatic KIT mutations highlights the necessity of in silico analyses that are almost absent in the relevant medical literature. The aim of this study is to report the mutation spectrum analysis of exon 11 encoding the juxtamembrane (JM) domain of the KIT gene in a group of Syrian GIST patients.

Methods: Forty-eight formalin-fixed paraffin-embedded GIST tissue samples, collected between 2006 and 2016, were retrieved from the pathological archives and analyzed for KIT exon 11 mutations by DNA sequencing.

EBV Plasma Epstein-Barr Virus (EBV) DNA as a Biomarker for Diagnosis of EBV-positive Hodgkin Lymphoma in Syria.

Introduction: Epstein Barr Virus - positive Hodgkin lymphoma is defined by the presence of Epstein-Barr virus (EBV) in tumor cells. EBV plays an important role in the development and prognosis of Hodgkin's lymphoma. The standard way to detect EBV in Hodgkin lymphoma is immunohistochemistry stains for latent membrane protein-1 (LMP1) in tumor cells.

Association Between rs7574865 Polymorphism and Rheumatoid Arthritis: Debate Unresolved.

Background: rs7574865 polymorphism has been evidently associated with susceptibility to Rheumatoid Arthritis (RA) in European and Eastern Asian populations, whereas studies in other countries reported otherwise.

Objective: We investigated the distribution of rs7574865 polymorphism in a group of Syrian RA patients.

Methods: Eighty-one RA patients and forty healthy controls were enrolled and rs7574865 was genotyped by direct sequencing.

Polymorphism of IFN-γ (+874 T/A) in Syrian patients with chronic hepatitis B.

Aim: This study aimed to investigate the association of IFN- γ +874 (T/A) polymorphism with susceptibility to chronic HBV infection in the Syrian population.

Background: Accumulating evidence indicate that the inadequate immune responses are responsible for HBV persistency. Therefore, polymorphisms in genes encoding the cytokines, which are responsible for regulation of the immune response, can affect the course and outcome of the infection.

Seropositivity of Hepatitis B and C among Syrian Multi-transfused Patients with Hemoglobinopathy.

Background And Objectives: Blood transfusion is a lifesaving therapy for patients with hemoglobinopathies. However, the need of frequent transfusion carries the risk of transmitting hepatitis B and C infections which are intermediately prevalent in Syria. Despite screening blood donations with sensitive methods, the risk of transmission is still present when infectious blood is donated within the window period.

Frequency of BCR-ABL Transcript Types in Syrian CML Patients.

Background. In Syria, CML patients are started on tyrosine kinase inhibitors (TKIs) and monitored until complete molecular response is achieved. BCR-ABL mRNA transcript type is not routinely identified, contrary to the recommendations.

Screening of GJB6 gene large deletions among Syrians with congenital hearing impairment.

Background: Research into the genetics of congenital hearing impairment in the Syrian population, where cases are noticeably encountered, is still in its infancy.

Aims: Our goal was to estimate the frequencies of the del(GJB6-D13S1830) and del(GJB6-D13S1854) mutations in a group of Syrians with autosomal recessive nonsyndromic hearing loss (ARNSHL).

Methods: Forty-one unrelated Syrian probands, already screened for exon 2, GJB2 gene mutations, were reanalyzed for del(GJB6-D13S1830) and del(GJB6-D13S1854) mutations by polymerase chain reaction.

Prevalence of "anti-HBc alone" among Syrian blood donors.

Introduction: We aimed to evaluate the prevalence of "anti-HBc alone" among Syrian blood donors, highlighting the possibility of representing occult HBV infection.

Methodology: Sera of 3,896 healthy blood donors were tested for both HBsAg and anti-HBc. HBsAg-negative, anti-HBc-positive samples were further tested for the antibodies to HBsAg (anti-HBs), and "anti-HBc alone" sera were tested for HBV DNA.

Hepatitis B splice-generated protein antibodies in Syrian chronic hepatitis B patients: incidence and significance.

Background: Previous studies have suggested hepatitis B splice-generated protein (HBSP), when expressed, is involved in the pathogenesis of HBV infection.

Objectives: We aimed to evaluate anti-HBSP incidence and association with several HBV infection parameters in a group of Syrian chronic hepatitis B patients.

Patients And Methods: Eighty treatment-naïve HBsAg-positive adult chronic hepatitis B patients' sera were included in our prospective targeted study.

High prevalence of genetic abnormalities in Middle Eastern patients with idiopathic non-obstructive azoospermia.

Introduction: Our objective is to detect the frequency and types of major genetic abnormalities of idiopathic non-obstructive azoospermia (NOA) to give appropriate genetic counseling before assisted reproductive techniques (ART) in Middle East and to compare the frequencies with other regions of the world.

Material And Methods: A total of 880 Middle Eastern patients with NOA were recruited in this multicenter study for genetic evaluation prior to use of ART. Karyotyping was performed on peripheral blood lymphocytes according to standard G-banding methods, polymerase chain reaction (PCR) was performed to screen the microdeletions in the AZF region of the Y chromosome.

HLA-DRB1 allele association with rheumatoid arthritis susceptibility and severity in Syria.

Introduction: Rheumatoid arthritis (RA) is a complex multifactorial chronic disease. The importance of human leukocyte antigen as a major genetic risk factor for RA was studied worldwide. Although it is widely distributed in different Syrian areas, studies of human leukocyte antigen (HLA) alleles' role are absent.

Rethinking therapeutic decisions for hepatitis B infection in Syria: insights into molecular monitoring.

Introduction: Hepatitis B virus patients are usually treated in Syria with alpha interferon and nucleos(t)ide analogues. Genotypic viral factors causing inadequate response or relapse following initial response are not routinely investigated. This study aimed to explore and discuss local therapeutic decisions from a molecular perspective.

Brucellosis laboratory tests in Syria: what are their diagnostic efficacies in different clinical manifestations?

Introduction: Diagnosis of brucellosis in Syria is based on the presence of compatible symptoms in addition to positive agglutination results. This study investigated the potential of culture, ELISA and real-time PCR to support the diagnosis in different clinical manifestations of brucellosis.

Methodology: Peripheral blood samples from 34 suspected brucellosis patients and 42 probable chronic or relapsed brucellosis patients were tested by agglutination tests, culture, ELISA and real-time PCR.

Utility of an interferon-gamma release assay as a potential diagnostic aid for active pulmonary tuberculosis.

Introduction: Sensitivity, specificity, early confirmation and obtaining an optimal specimen are challenging problems in active tuberculosis (TB) diagnosis. Interferon-gamma release assay (IGRA) is a good indicator for latent TB but can it be useful as a diagnostic tool for active TB? This study was designed to address these challenges and assess the potential of IGRA as a diagnostic indicator of active pulmonary TB by comparing it with other MT diagnostic conventional methods and molecular methods.

Methodology: The study was conducted on 91 patients with suspicion of pulmonary active TB.

Are human herpes viruses associated with autoimmune thyroid disease?

Introduction: Autoimmune diseases are complex diseases with genetic, endogenous and environmental etiologies. Viral infections have been postulated as one of the factors that may be the trigger of autoimmune diseases.

Methodology: Thyroid peroxidase (TPO) and thyroglobulin (TG) antibodies were measured before thyroidectomy in 100 subjects by chemiluminescence method, 50 of whom were autoimmune thyroid diseases (AITD) patients and 50 of whom were multinodular goiter (MNG) patients used as a control group.

The subgingival microbiota of Papillon-Lefèvre syndrome.

Background: There is little information about the microbiologic profiles of periodontal lesions in Papillon-Lefèvre syndrome (PLS) and the significance of bacteria in the pathogenesis of periodontitis in these patients. This comprehensive analysis of the subgingival microbiota in patients with PLS used 16S ribosomal RNA (rRNA) clonal analysis and the 16S rRNA-based Human Oral Microbe Identification Microarray (HOMIM).

Methods: Thirteen patients with PLS from seven unrelated families volunteered for this microbiologic study.

Is low birth weight a risk indicator for congenital cytomegalovirus infection?

Background: Congenital cytomegalovirus infection is currently the leading cause of congenital infection in 0.2-2.2% of live births worldwide leading to variable serious sequalae.

Comparative evaluation of published cytomegalovirus primers for rapid real-time PCR: which are the most sensitive?

Standardization of human cytomegalovirus (CMV) PCR is highly recommended. As primer design is essential for PCR sensitivity, this study evaluated all published CMV primer pairs to identify the most sensitive for single-round real-time PCR. PubMed (1993-2004) was searched for original papers aimed at CMV PCR.

Optimization of human cytomegalovirus LightCycler real-time PCR.

Background: Real-time PCR has been widely considered as a powerful tool for the evaluation of Human Cytomegalovirus (CMV) DNA kinetics. Successful PCR relies on optimization, which is an extremely demanding procedure. Nevertheless, certain values could be optimal for most primers in use.

Pregnancy outcomes among Palestinian refugee women with sickle cell trait in Damascus, Syria.

Objective: The results on pregnancy outcomes of mothers afflicted with sickle cell trait are still contradictory. This study aimed to examine the fetal and maternal outcomes among a cohort of pregnant women.

Methods: This is a prospective cohort study that examined the fetal and maternal outcomes among 98 women with sickle cell trait (HbAS) and 402 women with normal hemoglobin (HbAA).

Prevalence of hepatitis C virus antibodies among intravenous drug abusers and prostitutes in Damascus, Syria.

Objective: In studies of risk factors among patients presenting with acute and chronic hepatitis C, a history of intravenous drug use is the most common finding, accounting for 40% or more of subjects. The prevalence of anti-hepatitis C virus antibodies among intravenous drug users is considered one of the highest numbers among high risk groups. Whether hepatitis C virus is transmitted efficiently or at all via sexual contact remains controversial.