Mesenchymal stem cell-derived extracellular vesicles therapy for primary ovarian insufficiency: a systematic review and meta-analysis of pre-clinical studies.

Background: Primary ovarian insufficiency (POI) manifests with hormonal imbalances, menstrual irregularities, follicle loss, and infertility. Mesenchymal stem cell-derived extracellular vesicles (MSC-EVs) are emerging as a promising treatment for POI. This systematic review aims to assess the effects of MSC-EVs on follicle number, hormonal profile, and fertility in POI animal models.

Incidence of anxiety after traumatic brain injury: a systematic review and meta-analysis.

Background: Traumatic brain injury (TBI) is defined as acquired cerebral damage caused by an external mechanical impact, which has the potential to lead to transient or enduring debilitation. TBI is associated with many forms of long-lasting psychiatric conditions, including anxiety disorders. As anxiety is highly debilitating by causing impaired social functioning and decreased quality of life for the afflicted, especially in the form of anxiety disorders such as generalized anxiety disorder, certain efforts have been made to explore the factors associated with it, and one such factor is TBI.

Mesenchymal Stem Cell-Derived Extracellular Vesicle Therapy for Asthma in Murine Models: A Systematic Review and Meta-analysis.

Background: Asthma is a common disease, and among the most predominant causes of the years lived with disability. Mesenchymal stem cell-derived extracellular vesicles (MSC-EVs) have emerged as a promising avenue for asthma management. The objective of this study is to perform a systematic review and meta-analysis of pre-clinical studies investigating the therapeutic use of MSC-EVs in murine models of asthma.

Painful Dream of Motherhood: A Hermeneutic Phenomenological Study of Married Women with Ectopic Pregnancy in the Islamic Republic of Iran.

Ectopic pregnancy (EP) is a significant cause of maternal morbidity and mortality. This study aimed to explore the understanding and experience of women with EP in the Islamic Republic of Iran. This qualitative study carried out through a Heideggerian hermeneutic/interpretative phenomenological approach, using face-to-face semi-structured phenomenological interviews with twenty-five participants referred to a public maternity hospital in Rasht, Iran.

Biallelic variants in NSUN6 cause an autosomal recessive neurodevelopmental disorder.

Purpose: 5-methylcytosine RNA modifications are driven by NSUN methyltransferases. Although variants in NSUN2 and NSUN3 were associated with neurodevelopmental diseases, the physiological role of NSUN6 modifications on transfer RNAs and messenger RNAs remained elusive.

Methods: We combined exome sequencing of consanguineous families with functional characterization to identify a new neurodevelopmental disorder gene.

The footprint of campaign strategies in Farsi Twitter: A case for 2021 Iranian presidential election.

The rise of social media accompanied by the Covid-19 Pandemic has instigated a shift in paradigm in the presidential campaigns in Iran from the real world to social media. Unlike previous presidential elections, there was a decrease in physical events and advertisements for the candidates; in turn, the online presence of presidential candidates is significantly increased. Farsi Twitter played a specific role in this matter, as it became the platform for creating political content.

Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly.

The Kennedy pathways catalyse the de novo synthesis of phosphatidylcholine and phosphatidylethanolamine, the most abundant components of eukaryotic cell membranes. In recent years, these pathways have moved into clinical focus because four of ten genes involved have been associated with a range of autosomal recessive rare diseases such as a neurodevelopmental disorder with muscular dystrophy (CHKB), bone abnormalities and cone-rod dystrophy (PCYT1A) and spastic paraplegia (PCYT2, SELENOI). We identified six individuals from five families with bi-allelic variants in CHKA presenting with severe global developmental delay, epilepsy, movement disorders and microcephaly.

Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder.

Intellectual disability (ID) is a highly heterogeneous disorder with hundreds of associated genes. Despite progress in the identification of the genetic causes of ID following the introduction of high-throughput sequencing, about half of affected individuals still remain without a molecular diagnosis. Consanguineous families with affected individuals provide a unique opportunity to identify novel recessive causative genes.

Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy.

Purpose: Alternative splicing plays a critical role in mouse neurodevelopment, regulating neurogenesis, cortical lamination, and synaptogenesis, yet few human neurodevelopmental disorders are known to result from pathogenic variation in splicing regulator genes. Nuclear Speckle Splicing Regulator Protein 1 (NSRP1) is a ubiquitously expressed splicing regulator not known to underlie a Mendelian disorder.

Methods: Exome sequencing and rare variant family-based genomics was performed as a part of the Baylor-Hopkins Center for Mendelian Genomics Initiative.

ANXA1 with Anti-Inflammatory Properties Might Contribute to Parkinsonism.

We here describe the identification of a novel variant in the anti-inflammatory Annexin A1 protein likely to be the cause of disease in two siblings with autosomal recessive parkinsonism. The disease-segregating variant was ascertained through a combination of homozygosity mapping and whole genome sequencing and was shown to impair phagocytosis in zebrafish mutant embryos. The highly conserved variant, absent in healthy individuals and public SNP databases, affected a functional domain of the protein with neuroprotective properties.

A Clinical and Molecular Genetic Study of 50 Families with Autosomal Recessive Parkinsonism Revealed Known and Novel Gene Mutations.

In this study, the role of known Parkinson's disease (PD) genes was examined in families with autosomal recessive (AR) parkinsonism to assist with the differential diagnosis of PD. Some families without mutations in known genes were also subject to whole genome sequencing with the objective to identify novel parkinsonism-related genes. Families were selected from 4000 clinical files of patients with PD or parkinsonism.

Copy Number Variants in Patients with Autism and Additional Clinical Features: Report of VIPR2 Duplication and a Novel Microduplication Syndrome.

Autism is a common neurodevelopmental disorder estimated to affect 1 in 68 children. Many studies have shown the role of copy number variants (CNVs) as a major contributor in the etiology of autism with the overall detection rate of about 10-15 % and over 20 % when syndromic forms of autism exist. In this study, we used array CGH to identify CNVs in 15 Iranian patients with autism.

Identification of a Large DNAJB2 Deletion in a Family with Spinal Muscular Atrophy and Parkinsonism.

In this study, we described the identification of a large DNAJB2 (HSJ1) deletion in a family with recessive spinal muscular atrophy and Parkinsonism. After performing homozygosity mapping and whole genome sequencing, we identified a 3.8 kb deletion, spanning the entire DnaJ domain of the HSJ1 protein, as the disease-segregating mutation.

Genomic characterization of some Iranian children with idiopathic mental retardation using array comparative genomic hybridization.

Background: Mental retardation (MR) has a prevalence of 1-3% and genetic causes are present in more than 50% of patients. Chromosomal abnormalities are one of the most common genetic causes of MR and are responsible for 4-28% of mental retardation. However, the smallest loss or gain of material visible by standard cytogenetic is about 4 Mb and for smaller abnormalities, molecular cytogenetic techniques such as array comparative genomic hybridization (array CGH) should be used.

Repetitive transcranial magnetic stimulation decreases the kindling induced synaptic potentiation: effects of frequency and coil shape.

The present study was aimed to investigate the effects of repetitive transcranial magnetic stimulation (rTMS) on kindling-induced synaptic potentiation and to study the effect of frequency and coil shape on rTMS effectiveness. Seizures were induced in rats by perforant path stimulation in a rapid kindling manner (12 stimulations/day). rTMS was applied at different frequencies (0.

Detection of copy number changes in genes associated with Parkinson's disease in Iranian patients.

Parkinson's disease (PD) is the second most common neurodegenerative disorder, after Alzheimer's disease. Genomic rearrangements are common mutations reported in PD patients. In this study, we investigated the prevalence of genomic rearrangements in a total of 232 Iranian PD patients, out of which 102 were sporadic early-onset (age-at-onset ≤ 45 years) and 51 had a family history.

Biased homozygous haplotypes across the human caveolin 1 upstream purine complex in Parkinson's disease.

The alpha-synuclein-caveolin 1 axis is suggested to be of role in the pathogenesis of Parkinson's disease in cell line models. The objective of this study was to analyze the homozygous haplotype compartment of the human caveolin 1 gene upstream purine complex in patients afflicted with Parkinson's disease. This complex was screened in patients with Parkinson's disease (n = 141) and compared with a group of controls (n = 760) using polymerase chain reaction and sequencing.

Novel evidence of the involvement of calreticulin in major psychiatric disorders.

Calreticulin (CALR) is a multi-functional protein that is strictly conserved across species. Two mRNA transcripts have been recognized for the CALR gene in humans, which use a common promoter sequence. We have recently reported mutations in the CALR promoter that co-occur with psychosis.

Core promoter STRs: novel mechanism for inter-individual variation in gene expression in humans.

In a genome-scale analysis of the composition of core promoter sequences, we have recently shown that approximately 25% of the human protein-coding genes have at least one short tandem repeat (STR) of 3-repeats in their core promoters (i.e. the interval between -120 to +1).

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

Common diseases are often complex because they are genetically heterogeneous, with many different genetic defects giving rise to clinically indistinguishable phenotypes. This has been amply documented for early-onset cognitive impairment, or intellectual disability, one of the most complex disorders known and a very important health care problem worldwide. More than 90 different gene defects have been identified for X-chromosome-linked intellectual disability alone, but research into the more frequent autosomal forms of intellectual disability is still in its infancy.