Identification of the mutations in BTD gene in Iranian patients with biotinidase deficiency and evaluating their genotype-phenotype correlations.

Background: Biotinidase (BTD, encoded by the BTD gene) deficiency is an autosomal recessive neurometabolic disease caused by abnormal BTD activity in the biotin cycle. The clinical symptoms of patients, which are mainly neurocutaneous, range from mild to severe based on the enzyme activity level. This study aimed to identify BTD gene mutations in suspected BTD deficiency patients for the first time in the southwest of Iran and evaluate their genotype-phenotype correlations.

Study of the genomics and transcriptomics profiles of male-infertility genes in human prostate cancer: an analysis.

The World Health Organization has considered the infertility as an international public health problem. Infertility affect nearly 1 in 7 couples and male component contributes to 50% of infertility cases. There is a clear link between male infertility and some cancers such as testicular germ cell, prostate and colon cancers.

Folate gene polymorphisms 844ins68 and A80G and risk of Down syndrome offspring in young Iranian women: A cross-sectional study.

Background: Cytogenetics and association studies showed that folate gene polymorphisms can increase the risk of chromosomal nondisjunction and aneuploidies. The folate-metabolizing gene polymorphisms in Down syndrome mothers (DSM) have been assessed in a variety of populations. Reduced folate carrier 1 () and cystathionine beta-synthase () are key enzymes in folate metabolism.

Evaluating the Gray Level Co-Occurrence Matrix-Based Texture Features of Magnetic Resonance Images for Glioblastoma Multiform Patients' Treatment Response Assessment.

Background: Medical images of cancer patients are usually evaluated qualitatively by clinical specialists which makes the accuracy of the diagnosis subjective and related to the skills of clinicians. Quantitative methods based on the textural feature analysis may be useful to facilitate such evaluations. This study aimed to analyze the gray level co-occurrence matrix (GLCM)-based texture features extracted from T1-axial magnetic resonance (MR) images of glioblastoma multiform (GBM) patients to determine the distinctive features specific to treatment response or disease progression.

gene polymorphism is associated with downregulation of expression, suppressor of cytokine signaling-1 overexpression, and low probability of metastatic tumor at the time of breast cancer diagnosis.

Background: is a key player in inflammatory reactions, carcinogenesis, and tumor development. In this study, polymorphism of and its gene and suppressor of cytokine signaling-1 (SOCS-1) expression were investigated in relation to cancer susceptibility and development in breast cancer (BC) patients.

Materials And Methods: Polymorphism of was evaluated between a population of 174 patients with BC and 129 controls using restriction fragment length polymorphism and the expression of and SOCS-1 were examined in peripheral blood mononuclear cells (PBMCs) by real-time polymerase chain reaction.

Evaluating the effects of variation in CT scanning parameters on the image quality and Hounsfield units for optimization of dose in radiotherapy treatment planning: A semi-anthropomorphic thorax phantom study.

Aim: The diagnosis accuracy of computed tomography (CT) systems and the reliability of calculated Hounsfield Units (HUs) are critical in tumor detection and cancer patients' treatment planning. This study evaluated the effects of scan parameters (Kilovoltage peak or kVp, milli-Ampere-second or mAS reconstruction kernels and algorithms, reconstruction field of view, and slice thickness) on image quality, HUs, and the calculated dose in the treatment planning system (TPS).

Materials And Methods: A quality dose verification phantom was scanned several times by a 16-slice Siemens CT scanner.

Evaluation of BRCA1 Gene Promoter Methylation Status in Sporadic Breast Cancer Patients in Southwest of Iran.

Objective: Similar to other types of cancer, the development of breast cancer is a multi-stage process, consisting of various mutations and epigenetic changes in many genes. Mutations in the BRCA1 gene, which is a tumor suppressor gene, are considered as the most important types of mutations. The pivotal role of epigenetics is currently considered as the primary key to carcinogenesis.

Segmentation of the prostate, its zones, anterior fibromuscular stroma, and urethra on the MRIs and multimodality image fusion using U-Net model.

Background: Due to the large variability in the prostate gland of different patient groups, manual segmentation is time-consuming and subject to inter-and intra-reader variations. Hence, we propose a U-Net model to automatically segment the prostate and its zones, including the peripheral zone (PZ), transitional zone (TZ), anterior fibromuscular stroma (AFMS), and urethra on the MRI [T2-weighted (T2W), diffusion-weighted imaging (DWI), and apparent diffusion coefficient (ADC)], and multimodality image fusion.

Methods: A total of 91 eligible patients were retrospectively identified; 50 patients were considered for training process in a 10-fold cross-validation fashion and 41 ones for external test.

Altered Expression Levels of MicroRNA-155 and SOCS-1 in Peripheral Blood Mononuclear Cells of Newly Diagnosed Breast Cancer Patients.

MicroRNA-155 (miR-155) has a critical role in pro-inflammatory activation and tumor progression. In addition, miR-155 has various oncogenic effects in the tumor microenvironment by targeting the suppressor gene of cytokine signaling-1(SOCS-1) and interleukin-6 (IL-6). This study investigated the association of inflammatory changes with the variations of miR-155 expression in newly diagnosed breast cancer (NDBC) patients.

DNA vaccine containing gene induces significant immune responses against infection: An study.

Objectives: is one of the most prevalent human infectious agents that is directly involved in various upper digestive tract diseases. Although antibiotics-based therapy and proton pump inhibitors eradicate the bacteria mostly, their effectiveness has been declined recently due to emergence of antibiotic-resistant strains. Development of a DNA vaccine is a promising approach against bacterial pathogens.

Transcription Factors of CAT1, EFG1, and BCR1 Are Effective in Persister Cells of -Associated HIV-Positive and Chemotherapy Patients.

Background: Biofilm is an accumulation of cells, which are formed on mucosal surfaces of the host as well as on medical devices. The inherent resistance of strains producing biofilms to antimicrobial agents is an important and key feature for biofilm growth, which can lead to treatment failure. This resistance is due to the regulatory increase of the output pumps, the presence of extracellular matrix, and the existence of persister cells.

The pattern of gene copy number alteration (CNAs) in hepatocellular carcinoma: an in silico analysis.

Background: Hepatocellular carcinoma (HCC) is the most common type of liver cancer that occurs predominantly in patients with previous liver conditions. In the absence of an ideal screening modality, HCC is usually diagnosed at an advanced stage. Recent studies show that loss or gain of genomic materials can activate the oncogenes or inactivate the tumor suppressor genes to predispose cells toward carcinogenesis.

Identification of the PRM1 gene mutations in oligoasthenoteratozoospermic men.

Mutations or altered expression of PRM1 gene have been associated with male infertility. This study aimed to analyse pathogenic variations of PRM1 gene in Iranian Arab infertile men with oligoasthenoteratozoospermia that was carried out for the first time in this population. Genomic DNA was used to perform PCR sequencing in PRM1 untranslated regions, exons and intron.

Increased Expression Level of Long Noncoding RNA H19 in Plasma of Patients with Myocardial Infarction.

Long noncoding RNAs (lncRNAs) are lengthy noncoding transcripts which are actively involved in crucial cellular pathways. Tissue-specific expression of lncRNAs besides its secretion into the body fluids, has made lncRNAs in attention as biomarkers of the diseases. According to the role of lncRNAs, especially in cardiac regeneration, it is not surprising if their altered expression levels lead to cardiac diseases.

Fractionated radiation promotes proliferation and radioresistance in bystander A549 cells but not in bystander HT29 cells.

Aims: Recent studies suggest that direct exposure of cells to fractionated radiotherapy might induce radioresistance. However, the effects of fractionated radiotherapy on the non-irradiated bystander cells remain unclear. We hypothesized that fractionated radiotherapy could enhance radioresistance and proliferation of bystander cells.

Oral colonization by Candida species and associated factors in HIV-infected patients in Ahvaz, southwest Iran.

Objectives: Oropharyngeal candidiasis is one of the most common opportunistic fungal infections among human immunodeficiency virus (HIV)-infected individuals. The most common cause is Candida albicans, followed by non-albicans Candida. This study aimed to identify colonized Candida species in HIV-infected patients from Ahvaz, Iran.

miR-485-3p suppresses colorectal cancer via targeting TPX2.

Background: Colorectal cancer (CRC), is the third most common cancer type. MicroRNAs and their roles in cancer progression have gained considerable attention in the scientific community. miR-485-3p has been identified to be abnormally expressed in different types of cancer, but its expression level, biological function, and underlying pathways are still unclear in CRC.

SNHG1 Long Noncoding RNA is Potentially Up-Regulated in Colorectal Adenocarcinoma.

Colorectal cancer (CRC) is one of the most common types of cancer worldwide. However, the molecular mechanisms involved in CRC initiation and progression is remained to be unknown. It seems that lncRNAs, as the main and lengthy functional transcripts of the genome, have important roles in different cancers such as CRC.

Whole exome sequencing identified a novel nonsense INPP4A mutation in a family with intellectual disability.

Intellectual disability (ID) is characterized by significant deficits in adaptive behaviors and cognitive functioning. The involvement of both genetic and environmental factors in pathogenesis of the ID, makes the diagnosis of the disease more complicated. Nowadays, the entrance of next generation sequencing (NGS) approaches has facilitated the discovery of causative genes in this genetically heterogeneous disease.

Study of the immunogenicity of () gene from as DNA vaccine candidate .

Objectives: is one the most dangerous opportunistic pathogens in hospitalized infections. This bacterium is resistant to 90% of commercial antibiotics. Therefore, developing new strategies to cure -infections is urgent.

Whole exome sequencing revealed a novel dystrophin-related protein-2 () deletion in an Iranian family with symptoms of polyneuropathy.

Objectives: Charcot-Marie Tooth disease (CMT) is one of the main inherited causes of motor and sensory neuropathies with variable expressivity and age-of onset. Although more than 70 genes have been identified for CMT, more studies are needed to discover other genes involved in CMT. Introduction of whole exome sequencing (WES) to capture all the exons may help to find these genes.

Optimization of Brain Tumor MR Image Classification Accuracy Using Optimal Threshold, PCA and Training ANFIS with Different Repetitions.

Background: One of the leading causes of death is brain tumors. Accurate tumor classification leads to appropriate decision making and providing the most efficient treatment to the patients. This study aims to optimize brain tumor MR images classification accuracy using optimal threshold, PCA and training Adaptive Neuro Fuzzy Inference System (ANFIS) with different repetitions.

Exome sequencing revealed a p.G299R mutation in the COMP gene in an Iranian family suffering from pseudoachondroplasia.

Background: Short-stature (SS) is multifactorial pathologic condition that originates from either genetic or environmental factors. The diagnosis is based on family history, clinical findings, radiological examination and genetic analysis. A variety of genes have been reported for SS, among which FGFR-3 was the main gene in achondroplasia and hypochondroplasia.

Defective mitosis-linked DNA damage response and chromosomal instability in liver cancer.

Hepatocellular carcinoma (HCC), the most common form of liver cancer, represents a health problem in hepatic viruses-eradicating era because obesity, type 2 diabetes, and nonalcoholic steatohepatitis (NASH) are considered emerging pathogenic factors. Metabolic disorders underpin mitotic errors that lead to numerical and structural chromosome aberrations in a significant proportion of cell divisions. Here, we review that genomically unstable HCCs show evidence for a paradoxically DNA damage response (DDR) which leads to ongoing chromosome segregation errors.

Exome sequencing found a novel homozygous deletion in ADCK3 gene involved in autosomal recessive spinocerebellar ataxia.

Autosomal recessive cerebellar ataxia is heterogeneous inherited neurodegenerative disorders with more than 70 involved genes. The development of next generation sequencing opens a new window in rapid diagnosis of such heterogeneous condition in medical genetics laboratories. Here, we present ADCK3; del.