Molecular analysis of mucopolysaccharidosis type VI in Iranian patients; the influence of founder effect and consanguinity.

Background: Mucopolysaccharidosis type VI (MPS VI), also known as Manteaux-Lamy syndrome, is an autosomal recessive lysosomal storage disorder caused by deficiency of the enzyme arylsulfatase B(ARSB). This syndrome is progressive and affects many tissues and organs, leading to inflammation and scarring. The classic clinical features of Maroteaux-Lamy syndrome are significant impairment of the osteoarticular system with dysostosis multiplex, short stature and motor dysfunction.

Therapeutic potential of endometrial stem cells encapsulated in alginate/gelatin hydrogel to treat of polycystic ovary syndrome.

Polycystic ovary syndrome (PCOS) is a prevalent endocrine disorder in women, often leading to infertility due to anovulation. Recent advances suggest that endometrial stem cells (EnSCs) hold considerable promise for tissue regeneration, which could be pivotal in treating PCOS. To enhance the survival and stabilization of EnSCs within the ovary, the EnSCs were encapsulated in an injectable alginate/gelatin hydrogel (SC-H), which has excellent biocompatibility to support the survival of EnSCs.

Comparison of SPAG11A gene expression in infertile men with grade 1 and 2 varicocele before and after treatment.

Objective: Sperm Associated Antigen 11A (SPAG11A) protein is a family of the epididymis-specific secretory proteins implicated in sperm maturation and function. Varicocele might cause pathophysiological difficulties in the testis and epididymis, with a harmful effect on the environment for spermatogenesis and sperm maturation. The aim of this study was to evaluate the expression level of the SPAG11A gene and sperm parameters in infertile men with grade 1 and 2 varicocele before and after treatment.

The association of RBX1 and BAMBI gene expression with oocyte maturation in PCOS women.

Background: Polycystic ovarian syndrome (PCOS) is a common endocrine disorder that affects 6-20% of women of reproductive age. One of the symptoms of PCOS is hyperandrogenism, which can impair follicular development. This disruption can cause issues with the development of oocytes and the growth of embryos.

Detrimental effects of radiofrequency electromagnetic waves emitted by mobile phones on morphokinetics, oxidative stress, and apoptosis in mouse preimplantation embryos.

Due to the increasing use of smart mobile phones, the impact of radiofrequency electromagnetic radiation (RF-EMR) on reproductive health has become a serious concern. This study investigated the effect of mobile phone RF-EMR with frequency 900-1800 MHZ on the mouse embryo morphokinetics and genotoxic effect in laboratory conditions. After ovarian stimulation in mice, the MII oocytes were collected and underwent by in vitro fertilization (IVF) method.

Study Protocol for the Interactions between Dietary Patterns and and Genes Polymorphisms on Cardiometabolic Risk Factors.

Background: Cardiovascular diseases (CVDs) are recognized as one of the leading causes of death worldwide. Studies have shown the impact of genetic predisposition and dietary factors on developing these diseases. Dietary patterns and genetic factors such as polymorphisms related to the level of adiponectin may also interact with each other and produce variances in the effects of these factors on different individuals.

Misexpression of LINC01410, FOSL1, and MAFB in peripheral blood mononuclear cells associated with diabetic nephropathy.

Aims: Currently, diabetic nephropathy (DN) is considered the leading cause of the end-stage renal disease (ESRD). However, its specific molecular mechanism is still unclear, and there is still a lack of effective diagnostic and therapeutic methods.

Method: A pathway was assumed after bioinformatics analysis of GEO datasets related to individuals with various levels of DN, LINC01410, MAFB, and FOSL1.

Evaluation of the relationship between miR-1271 and GRB2 gene in endometriosis.

Background: Endometriosis is a common gynecological condition with a substantial economic burden on society. It is known that both genetic and environmental factors are contributing to the phenotypic development of the disease. MicroRNAs have a vital role in the pathogenesis of endometriosis.

Isolation of HLA-G cells using MEM-G/9 antibody-conjugated magnetic nanoparticles for prenatal screening: a reliable, fast and efficient method.

The development of an effective and noninvasive early method for obtaining fetal cells is crucial to prenatal screening. Despite proving the presence of fetal cells in the reproductive tract, their use is limited due to their inability to properly isolate them from maternal cells. Magnetic-activated cell sorting (MACS) is a simple technique to separate cells.

Ofatumumab and Granzyme B as immunotoxin against CD20 antigen.

Unlabelled: Anti-CD20 antibodies such as ofatumumab has demonstrated efficacy in relapsed/refractory chronic lymphocytic leukemia, are among the most successful therapies to date. In this study, we have designed an immunotoxin composed of Granzyme B and the high affinity variant of Ofatumumab. Different simulation software applied to explore the structure of Granzyme B, a serine protease in cytotoxic lymphocytes granules as an apoptosis mediator was attached to its specific antibody structure (Ofatumumab) via an adaptor sequence.

Plasma miR-21 as a potential predictor in prediabetic individuals with a positive family history of type 2 diabetes mellitus.

Type 2 diabetes mellitus (T2DM) is a heritable metabolic perturbation, rapidly growing across the world. Primary recognition of susceptible individuals with a family history of type 2 diabetes (FHD) in the prediabetes stage could delay the onset of T2DM or reduce complications induced by diabetes. This study aims to evaluate the expression levels of miR-21, miR-126 as noninvasive predictive biomarkers in individuals with genetic predisposition and investigate the correlation of miRNAs and cardiometabolic risk factors.

Novel variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability in Iranian consanguineous families.

Background: Intellectual disability (ID) is a heterogeneous group of neurodevelopmental disorders that is characterized by significant impairment in intellectual and adaptive functioning with onset during the developmental period. Whole-exome sequencing (WES)-based studies in the consanguineous families with individuals affected with ID have shown a high burden of relevant variants. So far, over 700 genes have been reported in syndromic and non-syndromic ID.

CAG repeat polymorphism in androgen receptor and infertility: A case-control study.

Background: Androgens play a role in the development of male phenotype and spermatogenesis during puberty, the function of which is regulated by the androgen receptor () gene. There is a polymorphism site in exon 1 of the gene encoding this receptor that can have different frequencies of CAG trinucleotide repeats and leads to the formation of polyglutamine chains of different lengths in the N-terminal domain of the AR protein and reduced sperm production by affecting spermatogenesis.

Objective: To investigate whether the cause of a group of unexplained infertilities could be the increased frequency of CAG repeats in the gene of patients with oligozoospermia and azoospermia.

Circulating microRNA-122, microRNA-126-3p and microRNA-146a are associated with inflammation in patients with pre-diabetes and type 2 diabetes mellitus: A case control study.

The prevalence of type 2 diabetes mellitus (T2DM) is increasing dramatically worldwide. Dysregulation of microRNA (miRNA) as key regulators of gene expression, has been reported in numerous diseases including diabetes. The aim of this study was to investigate the expression levels of miRNA-122, miRNA-126-3p and miRNA-146a in diabetic and pre-diabetic patients and in healthy individuals, and to determine whether the changes in the level of these miRNAs are reliable biomarkers in diagnosis, prognosis, and pathogenesis of T2DM.

Appropriate fixative for MEM-G/9 staining of cultured human HLA-G-positive JEG-3 trophoblast tumor cells.

Human leukocyte antigen (HLA-G) participates in immunosuppression and is useful for prenatal diagnostics. Isolation of fetal cells positive for HLA-G by HLA-G antibody conjugated nanoparticles from the cervix of pregnant women is the basis for non-invasive prenatal testing. Endocervical specimens are fixed in transport medium before isolation using antibody conjugated nanoparticles.

Atezolizumab and granzyme B as immunotoxin against PD-L1 antigen; an insilico study.

Unlabelled: CD274 gene encodes programmed death-ligand 1 (PD-L1) protein, also known as B7 homolog 1 (B7-H1), which is a crucial hallmark for highly proliferation cells including cancer cells. PD-1 and PD-L1 interaction is assumed as a negative regulator for immune response which can inhibit the T cell growth and cytokine secretion and supports tumor cells evasion from immune system. therefore, PD-L1 could be assumed as a candidate target for immune-therapy.

Co-delivery of miRNA-15a and miRNA-16-1 using cationic PEGylated niosomes downregulates Bcl-2 and induces apoptosis in prostate cancer cells.

Objective: Tumor suppressor miRNAs, miR-15a and miR-16-1, with high-specificity and oncogenic targeting of Bcl-2, can target tumor tissues. Disadvantages of the clinical application of free miRNAs include poor cellular uptake and instability in plasma, which can be partially improved by using nanocarriers to deliver anti-cancer agents to the tumor cell.

Method: In this study, cationic niosomes were designed and optimized with the specific formulation.

Unraveling the dark matter, long non-coding RNAs, in male reproductive diseases: A narrative review.

Recent advances in human transcriptome have revealed the fundamental and functional roles of long non-coding RNA in the susceptibility to diverse diseases and pathological conditions. They participate in wide range of biological processes such as the modulating of chromatin structure, transcription, translation, and post-translation modification. In addition, based on their unique expression profiles and their association with clinical abnormalities such as those of related to male reproductive diseases, they can be used to develop therapeutic methods and biomarkers for screening of the diseases.

Reanalysis of discarded blastocysts for autosomal aneuploidy after sex selection in cleavage-stage embryos.

Objective: The goal of the present study was to investigate the rate of chromosomal aneuploidies in surplus embryos after sex determination at the cleavage stage. Then, the same chromosomal aneuploidies were evaluated in blastocysts after extended culture.

Methods: Sixty-eight surplus embryos were biopsied at the cleavage stage and incubated for an additional 3 days to allow them to reach the blastocyst stage.

Comparison of chromosomal instability of human amniocytes in primary and long-term cultures in AmnioMAX II and DMEM media: A cross-sectional study.

Background: The genomic stability of stem cells to be used in cell therapy and other clinical applications is absolutely critical. In this regard, the relationship between in vitro expansion and the chromosomal instability (CIN), especially in human amniotic fluid cells (hAFCs) has not yet been completely elucidated.

Objective: To investigate the CIN of hAFCs in primary and long-term cultures and two different culture mediums.

Investigating the expressions of miRNA-125b and in endometriosis. Does it underlie cancer-like features of endometriosis? A case-control study.

Background: Endometriosis is generally considered as a benign condition; however, there is a possibility for it to become cancerous. miR-125b is upregulated in both endometriotic tissues and serum samples of women with endometriosis but its potential targets in endometriosis are still not fully understood.

Objective: The role of miR-125b in the regulation of expression in endometriosis was tested with a bioinformatics approach.

Effects of phosalone plant pesticide on sperm parameters and sexual hormone levels in Wistar rats: An experimental study.

Background: Phosalone is an organophosphate insecticide, applied to control of plant pests. This compound has various side effects because it acts as an acetyl cholinesterase enzyme inhibitor.

Objective: To investigate the effects of phosalone on the sperm parameters of and levels of sex hormones in adult male rats.

A comparative analysis of immunomodulatory genes in two clonal subpopulations of CD90 amniocytes isolated from human amniotic fluid.

Object: Immunosuppressive and immunomodulatory activity of mesenchymal stem cells derived from different sources, such as placental membranes, umbilical cord, and amniotic fluid has been proved. The heterogeneous nature of human amniocytes have been confirmed due to different clonal subpopulations found in amniotic fluid. The aim of this study was to investigate a 17-gene panel of immunomodulatory markers in two clonal subpopulations of CD90 amniocytes, divided based on morphology into epithelioid and fibroblastoid cells.

Predicting the most deleterious missense nsSNPs of the protein isoforms of the human HLA-G gene and in silico evaluation of their structural and functional consequences.

Background: The Human Leukocyte Antigen G (HLA-G) protein is an immune tolerogenic molecule with 7 isoforms. The change of expression level and some polymorphisms of the HLA-G gene are involved in various pathologies. Therefore, this study aimed to predict the most deleterious missense non-synonymous single nucleotide polymorphisms (nsSNPs) in HLA-G isoforms via in silico analyses and to examine structural and functional effects of the predicted nsSNPs on HLA-G isoforms.

Association between early embryo morphokinetics plus transcript levels of sperm apoptotic genes and clinical outcomes in IMSI and ICSI cycles of male factor patients.

Purpose: The aim was to assess the correlation of sperm apoptotic transcript levels with cleavage stage embryokinetic and pregnancy outcomes of intracytoplasmic morphologically selected sperm injection (IMSI) and ICSI methods in patients with male factor infertility.

Material And Methods: Eighty male factor cases were divided into ICSI and IMSI groups. ICSI was done routinely, and for IMSI, sperm was selected at high magnification and injected.