Histological and molecular evaluation of Mentha arvensis extract on a polycystic ovary syndrome rat model.

Objective: This study aimed to investigate the impact of Mentha arvensis on a rat model of polycystic ovary syndrome (PCOS).

Methods: The PCOS rat model was made by the daily subcutaneous injection of testosterone enanthate (250mg/kg) for 21 days. Thirty rats were divided into five groups, including a healthy control group and four PCOS groups treated with various concentrations of hydroalcoholic extract of Mentha arvensis (0, 50, 100 and 200mg/kg).

Pre-Implantation Genetic Testing for Monogenic Disorders (PGT-M) in A Family with A Novel Mutation in Gene.

Congenital disorders of glycosylation (CDG) are a heterogeneous group of systemic disorders characterized by defects in glycosylation of lipids and proteins. One of the rare subtypes of CDG is CDG-Ij (MIM # 608093), which is caused by pathogenic mutations in , a gene encoding UDP-N-acetylglucosaminedolichyl-phosphate N-acetylglucosaminephosphotransferase enzyme. This enzyme catalyzes the first step of oligosaccharide synthesis in glycoprotein biosynthesis pathway.

Genetic Testing in Various Neurodevelopmental Disorders Which Manifest as Cerebral Palsy: A Case Study From Iran.

Cerebral palsy (CP) is a heterogeneous permanent disorder impacting movement and posture. Investigations aimed at diagnosing this disorder are expensive and time-consuming and can eventually inconclusive. This study aimed to determine the diagnostic yield of next generation sequencing in patients with atypical CP (ACP).

Investigating the association between common genetic polymorphisms and schizophrenia: a meta-analysis.

Genetic factors play an important role in the pathogenesis of schizophrenia. Dysregulations in the dopaminergic system have long been known to play an influential role in the development of this disorder. Although a large number of studies have investigated the association between genetic polymorphisms in the genes involved in this system and the risk of schizophrenia, the results have been inconsistent.

Clinicopathological study of hepatic mesenchymal hamartoma and undifferentiated embryonal sarcoma of the liver: a single center study from Iran.

Background: Undifferentiated embryonal sarcoma of liver (UESL) and hepatic mesenchymal hamartoma (HMH) are two rare entities which mainly affect the pediatric population. The aim of this investigation was to provide a comprehensive overview of the clinicopathologic characteristics of the patients diagnosed with these two conditions in a tertiary referral center in Iran.

Methods: In this retrospective study patients diagnosed with UESL or HMH between 2012 and 2020 were studied.

Genomic prediction for growth using a low-density SNP panel in dromedary camels.

For thousands of years, camels have produced meat, milk, and fiber in harsh desert conditions. For a sustainable development to provide protein resources from desert areas, it is necessary to pay attention to genetic improvement in camel breeding. By using genotyping-by-sequencing (GBS) method we produced over 14,500 genome wide markers to conduct a genome- wide association study (GWAS) for investigating the birth weight, daily gain, and body weight of 96 dromedaries in the Iranian central desert.

Molecular diagnostic assays for COVID-19: an overview.

The coronavirus disease 2019 (COVID-19) pandemic has highlighted the cardinal importance of rapid and accurate diagnostic assays. Since the early days of the outbreak, researchers with different scientific backgrounds across the globe have tried to fulfill the urgent need for such assays, with many assays having been approved and with others still undergoing clinical validation. Molecular diagnostic assays are a major group of tests used to diagnose COVID-19.

Predicting the outcome of asymptomatic univesicular liver hydatids: diagnostic accuracy of unenhanced CT.

Objectives: To establish the role of unenhanced CT in predicting the outcome of liver hydatid cysts. We sought to determine whether the presence of laminated membrane detachment (LMD) or pericyst degenerative changes (PDCs) detected on CT were reliable signs for predicting a favorable outcome of liver hydatids.

Methods: In a 20-year-long study, we prospectively followed changes occurred in CT of 106 cysts of 98 patients with incidentally discovered asymptomatic univesicular liver hydatids who accepted to enter a watch-and-wait program.

On the information hidden in a classifier distribution.

Classification tasks are a common challenge to every field of science. To correctly interpret the results provided by a classifier, we need to know the performance indices of the classifier including its sensitivity, specificity, the most appropriate cut-off value (for continuous classifiers), etc. Typically, several studies should be conducted to find all these indices.

Case Report: Expanding the Genetic and Phenotypic Spectrum of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare neurodegenerative disorder caused by biallelic mutations in the gene. Once thought to be limited to Charlevoix-Saguenay region of Quebec, recent evidence has indicated that this disorder is present worldwide. It is classically characterized by the triad of ataxia, pyramidal involvement, and axonal-demyelinating sensorimotor neuropathy.

Biallelic TMEM251 variants in patients with severe skeletal dysplasia and extreme short stature.

Skeletal dysplasias are a heterogeneous group of disorders ranging from mild to lethal skeletal defects. We investigated two unrelated families with individuals presenting with a severe skeletal disorder. In family NMD02, affected individuals had a dysostosis multiplex-like skeletal dysplasia and severe short stature (<-8.

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.

Bi-allelic loss-of-function variants in genes that encode subunits of the adaptor protein complex 4 (AP-4) lead to prototypical yet poorly understood forms of childhood-onset and complex hereditary spastic paraplegia: SPG47 (AP4B1), SPG50 (AP4M1), SPG51 (AP4E1) and SPG52 (AP4S1). Here, we report a detailed cross-sectional analysis of clinical, imaging and molecular data of 156 patients from 101 families. Enrolled patients were of diverse ethnic backgrounds and covered a wide age range (1.

A Neurite Outgrowth Assay and Neurotoxicity Assessment with Human Neural Progenitor Cell-Derived Neurons.

Neurite outgrowth assay and neurotoxicity assessment are two major studies that can be performed using the presented method herein. This protocol provides reliable analysis of neuronal morphology together with quantitative measurements of modifications on neurite length and synaptic protein localization and abundance upon treatment with small molecule compounds. In addition to the application of the presented method in neurite outgrowth studies, neurotoxicity assessment can be performed to assess, distinguish and rank commercial chemical compounds based on their potential developmental neurotoxicity effect.

The potential effectiveness of acetazolamide in the prevention of acute kidney injury in COVID-19: A hypothesis.

Acute kidney injury (AKI) is an important complication of COVID-19 encompassing a wide range of presentations. SARS-CoV-2 is proposed to cause AKI in the patients through various mechanisms. We are, nevertheless, far from a comprehensive understanding of the underlying pathophysiological mechanisms of the kidney injury in this infection.

Molecular mechanisms of long non-coding RNAs in anaplastic thyroid cancer: a systematic review.

Background: anaplastic thyroid cancer (ATC) is one of the most lethal and aggressive cancers. Evidence has shown that the tumorigenesis of ATC is a multistep process involving the accumulation of genetic and epigenetic changes. Several studies have suggested that long non-coding RNAs (lncRNAs) may play an important role in the development and progression of ATC.

Temperature, humidity, and latitude analysis to predict potential spread and seasonality for COVID-19.

Background: A significant number of infectious diseases display seasonal patterns in their incidence, including human coronaviruses. Betacoronaviruses such as MERS-CoV and SARS-CoV are not thought to be seasonal.

Methods: We examined climate data from cities with significant community spread of COVID-19 using ERA-5 reanalysis, and compared to areas that are either not affected, or do not have significant community spread.

Potential voriconazole associated posterior reversible leukoencephalopathy in children with malignancies: Report of two cases.

Introduction: The fungal infection has become severe morbidity amongst patients with malignancy. Voriconazole, a new generation of triazole, has shown excellent results in treating invasive fungal infections.

Case Report: Herein, we report two cases of posterior reversible encephalopathy syndrome (PRES), which induced after voriconazole exposure.

A novel stop-gain mutation in DPYS gene causing Dihidropyrimidinase deficiency, a case report.

Background: Dihidropyrimidinase (DHP) deficiency is an inherited inborn error of pyrimidine metabolism with a variable clinical presentation and even asymptomatic subjects. Dihydropyrimidinase is encoded by the DPYS gene, thus pathogenic mutations in this gene can cause DHP deficiency. To date, several variations in the DPYS gene have been reported but only 23 of them have been confirmed to be pathogenic.

Temperature, Humidity, and Latitude Analysis to Estimate Potential Spread and Seasonality of Coronavirus Disease 2019 (COVID-19).

Importance: Coronavirus disease 2019 (COVID-19) infection has resulted in a global crisis. Investigating the potential association of climate and seasonality with the spread of this infection could aid in preventive and surveillance strategies.

Objective: To examine the association of climate with the spread of COVID-19 infection.

Reporting one very rare pathogenic variation c.1106G>A in gene.

Dystroglycan (DG) is a major cell membrane glycoprotein, which is encoded by the gene. α-DG is one of DG subunits, belongs to O-mannosylated protein of mammals and was identified in brain, peripheral nerves and muscle. Dystroglycanopathies are a group of heterogeneous congenital muscular dystrophies, which can result from defective α-DG mannosylation.

Genome-Wide Diversity, Population Structure and Demographic History of Dromedaries in the Central Desert of Iran.

The development of camel husbandry for good production in a desert climate is very important, thus we need to understand the genetic basis of camels and give attention to genomic analysis. We assessed genome-wide diversity, linkage disequilibrium (LD), effective population size (Ne) and relatedness in 96 dromedaries originating from five different regions of the central desert of Iran using genotyping-by-sequencing (GBS). A total of 14,522 Single Nucleotide Polymorphisms (SNPs) with an average minor allele frequency (MAF) of 0.

Clinical and molecular characterization of a patient with mitochondrial Neurogastrointestinal Encephalomyopathy.

Background: Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disorder caused by mutations in TYMP gene, encoding nuclear thymidine phosphorylase (TP). MNGIE mainly presents with gastrointestinal symptoms and is mostly misdiagnosed in many patients as malabsorption syndrome, inflammatory bowel disease, anorexia nervosa, and intestinal pseudo-obstruction. Up to date, more than 80 pathogenic and likely pathogenic mutations associated with the disease have been reported in patients from a wide range of ethnicities.