Assessment of the association between TNIP1 polymorphism with clinical features and risk of systemic lupus erythematosus.

Objective: Over the past decades, has been identified as a strong risk locus in multiple genome-wide association studies (GWAS), spanning multiple populations and various autoimmune diseases. is a polyubiquitin-binding protein that works as a physiological inhibitor of NF-κB and maintains immune homeostasis. Some studies have confirmed that is downregulated in autoimmune diseases such as rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE).

Association of a miRNA-binding site polymorphism in IL-16 gene with disease risk and clinical characteristics of rheumatoid arthritis and systemic lupus erythematosus.

Introduction: /objectives. Single nucleotide polymorphisms (SNPs) located at the 3'-UTR region of the target genes of microRNAs (miRNAs) can dysregulate their expression via disrupting the binding site of miRNAs. Interleukin-16 (IL-16) is involved in the pathogenesis of rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE).

Identification of causative gene mutation in an Iranian family with coloboma and nephropathy using whole exome sequencing.

Pathogenic variants in FAT1 gene have recently been described in association with coloboma, nephropathy, and facial dismorphism. Here we describe a 5-year-old Iranian boy with iris coloboma and nephropathy, born to an Iranian family. Extracted genomic DNA from blood sample was used to perform whole exome sequencing in the patient.

Optimizing embryological aspects of oocyte retrieval, oocyte denudation, and embryo loading for transfer.

Oocyte retrieval, oocyte denudation, and embryo transfer are crucial processes during assisted reproduction technology (ART). Air quality in the ART laboratory, temperature, pH of the media used and the time interval between oocyte retrieval and insemination are all critical factors. Anesthesia is required for oocyte retrieval, however, evidence regarding the potential impact of different methods (general anesthesia, conscious sedation, and local anesthesia) on the clinical outcomes is unclear.

An expert commentary on essential equipment, supplies and culture media in the assisted reproductive technology laboratory.

The assisted reproductive technology (ART) laboratory is a complex system designed to sustain the fertilization, survival, and culture of the preimplantation embryo to the blastocyst stage. ART outcomes depend on numerous factors, among which are the equipment, supplies and culture media used. The number and type of incubators also may affect ART results.

Comprehensive Analysis of Global Research on Human Varicocele: A Scientometric Approach.

Purpose: This study provides a comprehensive analysis of research trends on the etiology, mechanisms, potential risk factors, diagnosis, prognosis, surgical and non-surgical treatment of varicocele, and clinical outcomes before and after varicocele repair.

Materials And Methods: Varicocele studies published between 1988 and 2020 were retrieved from the Scopus database on April 5, 2021. Original studies on human varicocele were included, irrespective of language.

Impact of miRNA-binding site polymorphisms in gene on occurrence and clinical characteristics of systemic lupus erythematosus.

Background: Signal transducer and activator of transcription 3 (STAT3) is a major regulator of immune response and chronic inflammatory conditions acting through regulation of B cells, T-helper 17 (Th17) cells, and IL-17 production. Previous studies have demonstrated that dysregulation of STAT3 is crucial for SLE pathogenesis and disease severity. It is believed that single nucleotide polymorphisms (SNPs) located at the 3'-UTR sequence of the target genes could dysregulate their expression by disrupting the binding site of miRNAs.

Electrophysiology of Human Gametes: A Systematic Review.

Purpose: Oocytes and spermatozoa are electrogenic cells with the ability to respond to electrical stimuli and modulate their electrical properties accordingly. Determination of the ionic events during the gamete maturation helps to design suitable culture media for gametes in assisted reproductive technology (ART). The present systematic review focuses on the electrophysiology of human gametes during different stages of maturation and also during fertilization.

Molecular characterization of a large cohort of mucopolysaccharidosis patients: Iran Mucopolysaccharidosis RE-diagnosis study (IMPRESsion).

Mucopolysaccharidoses (MPSs) are rare, heterogeneous inborn errors of metabolism (IEM) diagnosed through a combination of clinical, biochemical, and genetic investigations. The aim of this study was molecular characterization of the largest cohort of Iranian MPS patients (302 patients from 289 unrelated families), along with tracking their ethnicity and geographical origins. 185/289 patients were studied using an IEM-targeted NGS panel followed by complementary Sanger sequencing, which led to the diagnosis of 154 MPS patients and 5 non-MPS IEMs (diagnostic yield: 85.

Sperm Proteome Analysis to Investigate DNA Repair Mechanisms in Varicocele Patients.

Varicocele, a condition associated with increased oxidative stress, negatively affects sperm DNA integrity and reduces pregnancy rates. However, the molecular mechanisms related to DNA integrity, damage, and repair in varicocele patients remain unclear. This study aimed to determine the role of DNA repair molecular mechanisms in varicocele-related infertility by combining an proteomics approach with wet-laboratory techniques.

Identification of a Novel Homozygous Mutation in Gene in an Iranian Family with Bardet-Biedl Syndrome.

Background: Bardet-Biedl Syndrome (BBS) is a rare pleiotropic autosomal recessive disease related to ciliopathies with approximately 25 causative genes. BBS is a multisystemic disorder with wide spectrum of manifestations including truncal obesity, retinal dystrophy, male hypogenitalism, postaxial polydactyly, learning difficulties, and renal abnormalities.

Methods: A consanguineous Iranian family with a 28-year-old daughter affected with BBS, resulting from a first cousin marriage, was examined.

Persistent hypercalcemia with similar familial Hypocalciuric hypercalcemia features: a case report and literature review.

Background: Primary hyperparathyroidism (PHPT) and familial hypocalciuric hypercalcemia (FHH) are the most important differential diagnosis of parathyroid hormone (PTH)-dependent hypercalcemia. The clinical features of FHH and PHPT can overlap in some cases. Therefore, these two diseases must be differentiated to prevent unnecessary parathyroidectomy.

Frequency of HLA Alleles in a Group of Severe COVID-19 Iranian Patients.

Background: Human Leukocyte Antigen (HLA) system composed of a group of related proteins with important functions in the immune system. Several studies have reported that there is a significant association between specific HLA alleles and the susceptibility to different infectious diseases. This study aimed to detect the specific HLA alleles that cause higher susceptibility to COVID-19, we analyzed the HLA allele frequency distribution in Iranian patients with a severe form of COVID-19.

Detection of Aneuploidies in Products of Conception and Neonatal Deaths in Iranian Patients Using the Multiplex Ligation-Dependent Probe Amplification (MLPA).

Background: Around 70% of all pregnancies (Including 15% of clinically-recognized ones) are lost due to various fetal or maternal disorders. Chromosomal aneuploidies are among the most common causes of pregnancy loss. Standard chromosome analysis using G-banding technique (Karyotype) is the technique of choice in studying such abnormalities; however, this technique is time-consuming and sensitive, and limited by vulnerabilities such as cell culture failure.

Presentation and Outcome of Congenital Heart Disease During Covid-19 Pandemic: A Review.

Severe Acute Respiratory Syndrome Corona Virus 2 (SARS-COV) infection is a rapid evolving pandemic with multiple peaks of outbreak and substantial mortality worldwide. It has been proposed that infants are more vulnerable to SARS-COV-2 infection. On the other hand, children with COVID-19 have generally milder disease compared to infected adults and more often presented with gastrointestinal symptoms compared to respiratory ones.

A Web-Based Global Educational Model for Training in Semen Analysis during the COVID-19 Pandemic.

Purpose: In response to the COVID-19 pandemic, the American Center for Reproductive Medicine (ACRM) transitioned its annual training in assisted reproductive technology (ART) from a hands-on, laboratory-based training course to a fully online training endorsed by the American College of Embryology. Here we describe our experience and assess the quality of an online training format based on participant outcomes for the first three modules of a planned series of online ART training.

Materials And Methods: These modules included manual semen analysis, sperm morphology and ancillary semen tests (testing for leukocytospermia, sperm vitality, and anti-sperm antibody screening).

Investigation of rs531564 Polymorphism in the Primary MicroRNA-124 Gene in Patients with Systemic Lupus Erythematosus and Rheumatoid Arthritis: Association with Disease Susceptibility and Clinical Characteristics.

MicroRNA-124 (miR-124) is known as an important regulator of the immune system and inflammatory response. Studies have reported that this miRNA is dysregulated in autoimmune disorders such as systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA). A functional analysis demonstrated that rs531564 (C>G) affects the biogenesis of primary microRNA transcript-124 (pri-miR-124) and changes the expression of mature miR-124.

COVID-19 Disease During Pregnancy and Peripartum Period: A Cardiovascular Review.

Pregnancy with various physiological effects on cardiovascular system, makes mothers with borderline cardiovascular reserve at significant risk for adverse events during labor and early postpartum period. Cardiac imaging modalities, have shown that Coronavrus Disease 2019 disease is associated with subclinical myocardial injury in significant numbers of infected people, even in mild or asymptomatic disease and previous healthy ones. Herein, we have discussed the cardiovascular aspects of prepartum pregnant women with Coronavrus Disease 2019, especially patients with moderate to severe illness.

Standardized Laboratory Procedures, Quality Control and Quality Assurance Are Key Requirements for Accurate Semen Analysis in the Evaluation of Infertile Male.

Semen analysis is a basic test for evaluating male fertility potential, as it plays an essential role in driving the future management and treatment of infertility in couples. Manual semen analysis includes the evaluation of both macroscopic and microscopic parameters, whereas automated semen analysis is conducted through a computer-aided sperm analysis system and can include additional parameters that are not evaluated by manual analysis. Both quality control (QC) and quality assurance (QA) are important to ensure reproducible results for semen analysis, and represent fundamental checks and balances of all stages (pre-analytical, analytical, and post-analytical) of semen analysis.

Novel Treatment for Congenital Disorder of Glycosylation in a Patient with Novel Homozygote Mutation of PMM2: A Case Report and Review Literature.

Background: In Congenital Disorder of Glycosylation (CDG) type Ia, homozygous mutations of the PMM2 gene cause phosphomannomutase 2 dysfunction.

Case Presentation: Herein, a 10-month-old girl, is presented with severe hypotonia, along with inappropriately normal mental status and normal facies. High 2-ketoglutaric acid was detected in her urine, therefore, the diagnosis of 2-Ketoglutarate dehydrogenase complex (KDHC) deficiency was made for this patient.

Clinical features and risk factors associated with acute respiratory distress syndrome in pregnant women diagnosed with COVID-19: a multi-center case-control study.

Objectives: The aim of this study was to evaluate differences in clinical features and laboratory parameters in critically ill pregnant women with acute respiratory distress syndrome (ARDS) compared to moderate and severe pregnant women with coronavirus disease-2019 (COVID-19) but without ARDS.

Methods: This was a retrospective multicenter study of all pregnant women with COVID-19 diagnosed with ARDS between February 15, and May 1, 2020 in nine level III maternity centers in Iran (ARDS group). The control COVID-19 pregnant women were selected from 3 of 9 level III maternity centers between March 15 and April 20, 2020.

ADRS due to COVID-19 in midterm pregnancy: successful management with plasma transfusion and corticosteroids.

Background: Management of acute respiratory distress syndrome (ARDS) in pregnant women infected with new severe acute respiratory syndrome Corona virus 2 (SARS-CoV) is a challenging clinical task.

Case: A 30- year-old woman (gravid 3, parity 2) presented at her 21 and 2/7 weeks gestation (pre pregnancy BMI: 36.1 kg/m), with ARDS caused by SARS-CoV infection.

Intra-placental arterial Doppler: A marker of fetoplacental vascularity in late-onset placental disease?

Introduction: Late-gestation adverse pregnancy outcome is associated with reduced placental villous vascularity but rarely with a frankly abnormal umbilical artery Doppler waveform. The clinical utility of umbilical artery Doppler velocimetry in late gestation is limited by poor understanding of what aspect(s) of placental structure and function the impedance reflects. We hypothesized that placental arterial circulation impedance reflects placental vascularity and arterial function.