Mutation Analysis of PAH Gene in Phenylketonuria Patients from the North of Iran: Identification of Three Novel Pathogenic Variants.

Background: There are more than 1100 different pathogenic variants in the phenylalanine hydroxylase () gene that are responsible for phenylketonuria (PKU) diseases, and the spectrum of these mutations varies in different ethnic groups. The aim of the present study was to identify the frequency of pathogenic variants in all 13 exons of the gene among patients with PKU in Mazandaran and Golestan provinces in the north of Iran.

Methods: Forty unrelated PKU patients from Mazandaran and Golestan provinces were enrolled in the study.

Coinheritance of the c.-19 G > C and c.315 + 1 G > A Variants in the -Globin Gene Leads to Thalassemia Disease: A Report from the North of Iran.

Up to now, more than 300 pathogenic variants have been identified in the -globin gene, some of which are categorized as silent mutations that do not change the hematological indices. In the present study, our aim is to introduce the first report of a case with thalassemia intermedia with coinheritance of the c.315 + 1 G > A pathogenic variant and a silent variant (HBB: c.

Association investigations between ACE1 and ACE2 polymorphisms and severity of COVID-19 disease.

Due to the unique affinity of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) to the angiotensin-converting enzyme 2 (ACE2) receptor in patients, the foremost recent evidence indicated that ACE1 and ACE2 polymorphisms could affect the susceptibility of individuals to SARS-CoV-2 infection and also the disease outcome. Here, we aimed to assess the possible association between two polymorphisms and the severity of disease in patients. In the present study, 146 patients with COVID-19 who were admitted to the Mazandaran University of Medical Sciences hospitals between March 2020 and July 2020 were enrolled in this case-control study.

First report of novel mutation (c.790del) on gene on a family with childhood onset of progressive cerebellar ataxia with vertical gaze palsy.

SQSTM1 gene encodes a protein called p62 that acts as an autophagy receptor in the degradation of protein molecules. A homozygous deletion variant that changes the frame shift in the SQSTM1 gene named c.790 Del A .

Improved biological behaviours and osteoinductive capacity of the gelatin nanofibers while composites with GO/MgO.

Among the many polymers introduced for bone tissue engineering, natural polymers have more advantages due to their high biocompatibility and biodegradability, despite their low mechanical properties. Herein, gelatin nanofibers with and without magnesium oxide (MgO) and graphene oxide (GO) nanoparticles were fabricated by electrospinning. The fabricated gelatin and gelatin/GO/MgO nanofibers were examined using scanning electron microscopy, protein adsorption, cell attachment and viability assays.

Electrospun silk nanofibers promoted the in vitro expansion potential of CD 133 cells derived from umbilical cord blood.

Stem cells from umbilical cord blood (UCB) are able to proliferate and differentiate into various somatic cell types. Thereby, they are considered as one of the attractive stem cell sources in tissue engineering and regenerative medicine. However, the limited number of hematopoietic CD 133 stem cells in UCB restricted the clinical application of such stem cells.

First report of c.425-1G>A mutation in ornithine aminotransferase gene causing gyrate atrophy of the choroid and retina with hyperornithinemia.

Background: Gyrate atrophy is a rare autosomal recessive inherited genetic disease. Progressive deterioration of peripheral night vision and blindness are the foremost clinical manifestations of the disease caused by mutations of ornithine aminotransferase gene.

Case: The presented case was an 18-year-old male referred for a progressive reduction of visual acuity, which started when the subject was 7 years old, blurred vision, and hypotonic muscles.

Comparison of human-induced pluripotent stem cells and mesenchymal stem cell differentiation potential to insulin producing cells in 2D and 3D culture systems in vitro.

Diabetes is one of the most common diseases in the world that is chronic, progressive, and costly, and causes many complications. Common drug therapies are not able to cure it, and pancreas transplantation is not responsive to the high number of patients. The production of the insulin producing cells (IPCs) from the stem cells in the laboratory and their transplantation to the patient's body is one of the most promising new approaches.

Assessment the Effect of Dexamethasone on Urinary Cytokines and Renal Scar in Children with Acute Pyelonephritis.

Introduction: One of the most serious complications of acute febrilepyelonephritis in children is the development of renal scar. Thisstudy aimed to investigate the effect of dexamethasone on urinarycytokine levels and renal scar in children with acute pyelonephritis.

Methods: In a double-blind randomized clinical trial, 60 childrenaged 3 months to 12 years with acute febrile pyelonephritis enrolled.

Investigation of Five Common Mutations on Phenylalanine Hydroxylase Gene of Phenylketonuria Patients from Two Provinces in North of Iran.

Background: There are more than 500 different mutations on phenylalanine hydroxylase (PAH) gene that is responsible for phenylketonuria (PKU) diseases and the spectrum of these mutations is varied in different populations. The main clinical manifestation of untreated patients is severe mental retardation. The PAH gene, that is 90 kb long, is consisted of 13 exons and 12 introns.

Torque Teno Virus (TTV) Among β-Thalassemia and Haemodialysis Patients in Mazandaran Province (North of Iran).

Torque Teno virus (TTV) is a transfusion transmitted virus that seems to be involved in several complications such as acute respiratory diseases, liver diseases, AIDS, cancer, and autoimmune reactions. In the present study the frequency of TTV was investigated among β- thalassemia (BT) and haemodialysis (HD) patients (high risk patients for TTV) in Mazandaran province, Iran. DNA was extracted from the serum of 82 BT and 100 HD patients, and nested PCR method was applied to detect TTV DNA.

In Vitro Hb Production in B-thalassemia Patients Is Not a Predictor of Clinical Responsiveness to Hydroxyurea.

Background: The hematologic response to hydroxyurea (HU) is varied among β-thalassemia (BT) patients. The BCL11A and SOX6 genes are involved in response to HU. This study aimed to investigate the in-vitro responsiveness of HU among BT major patients homozygote for IVSII-1G>A mutation and XmnI single nucleotide polymorphism (SNP) in order to find whether the in-vitro Hb concentration is a predictor of clinical (HU) responsiveness.

Identification of β-globin haplotypes linked to sickle hemoglobin (Hb S) alleles in Mazandaran province, Iran.

Carrier frequency of the β allele has been reported to be 0.19% in Mazandaran province, northern Iran. Haplotype analysis of the β allele helps trace the origin of its encoded hemoglobin (Hb) variant, Hb S, in a region.

Role of C-reactive Protein and Tumor Necrosis Factor-Alpha in Differentiating between Ventilator-Associated Pneumonia and Systemic Inflammatory Response Syndrome without Infectious Etiology.

Background: Differential diagnosis of systemic inflammatory response syndrome (SIRS) with or without infectious cause is critically important in terms of initiating antimicrobial agents in case of infectious etiology such as ventilator-associated pneumonia (VAP). The aim of this study was to determine the diagnostic and prognostic roles of C-reactive protein (CRP) and tumor necrosis factor-alpha (TNF-α) in differentiating between ventilator-associated pneumonia and SIRS without infectious etiology.

Materials And Methods: In this prospective observational study, 91 adult intensive care unit (ICU) patients were enrolled.

Association of ABO and Colton Blood Group Gene Polymorphisms With Hematological Traits Variation.

Hematological parameters are appraised routinely to determine overall human health and to diagnose and monitor certain diseases. In GWASs, more than 30 loci carrying common deoxyribonucleic acid (DNA) polymorphisms have been identified related to hematological traits. In this study, we investigated the contribution of ABO rs2073823 along with AQP1 rs1049305 and rs10244884 polymorphisms in hematological traits variation in a cohort of Iranian healthy individuals.

First Autochthonous Coinfected Anthrax in an Immunocompetent Patient.

Cutaneous anthrax has a mortality rate of 20% if no antibacterial treatment is applied. The clinical manifestations of cutaneous anthrax are obviously striking, but coinfection may produce atypical lesions and mask the clinical manifestations and proper laboratory diagnosis. Anthrax is known to be more common in the Middle East and Iran is one of the countries in which the zoonotic form of anthrax may still be encountered.

β-Globin gene cluster haplotypes of Hb D-Los Angeles in Mazandaran Province, Iran.

Several types of hemoglobin D (Hb D) are distinguishable by DNA analysis, and the aim of this study was to identify the types of Hb D variant and β-globin gene haplotypes linked to Hb D in Mazandaran Province, northern Iran. Fifty five individuals were identified as Hb D carriers, and PCR-RFLP analysis revealed that all 55 had the Hb D-Los Angeles type. To identify haplotypes associated with the β(D) allele, family linkage analysis, using the PCR-RFLP method for seven polymorphisms in the β-globin gene cluster, was carried out on families of 23 of these 55 individuals.

Food deprivation and social inequality may lead to oxidative damage: a study on the preventive role of melatonin in the male rat reproductive system.

Spermatogenic cells are susceptible to oxidative stress and apoptosis. Food deprivation (FD) has been reported as a stressor that could increase reactive oxygen species. In the present study, FD-induced oxidative stress and apoptosis, as well as the protective effects of melatonin, were evaluated in the testes.

Evaluation of gene mutations involved in drug resistance in mycobacterium tuberculosis strains derived from tuberculosis patients in mazandaran, iran, 2013.

Drug resistance (especially multiple drug resistance) in Mycobacterium tuberculosis makes global concerns in treatment and control of tuberculosis. Rapid diagnosis of drug resistant strains of the bacteria has vital importance in the prognosis of the disease. The aim of this study was to identify the mutations responsible for drug resistance in Mycobacterium tuberculosis strains derived from patients with tuberculosis using line probe assay (LPA) method which rapidly detect drug resistant strains and respective mutations.

Why does the Iranian national program of screening newborns for G6PD enzyme deficiency miss a large number of affected infants?

Purpose: G6PD enzyme deficiency is one of the most prevalent genetic disorders worldwide and it has high incidence rate in Northern provinces of Iran. It was observed that national neonatal screening for G6PD enzyme deficiency fails to detect all affected infants. In order to clarify the cause, this study has been done in Thalassemia Research Center, Sari, Iran.

Alpha thalassemia gene mutations in neonates from Mazandaran, Iran, 2012.

Aim: Alpha thalassemia is one of the most prevalent disorders worldwide and carrier frequency of the disease is varied in different parts of the world. Although different studies in Iran and Mazandaran province have been carried out to identify different mutations of alpha globin gene among people with low hematological indices, frequencies of these mutations were unknown in general population, and thus the aim of this study was to evaluate the carrier frequencies of alpha globin gene mutations among neonates in Mazandaran.

Material And Methods: Four hundred and twelve neonates were collected from a delivery ward of a hospital in Sari.

Is there any relationship between Le(b) antigen expression and Helicobacter pylori infection?

Introduction: Helicobacter pylori infection is one of the main causes of peptic ulcer. There are some blood groups acting as receptors for the pathogen. Based on this view and previous attempts, we tried to examine the relationship between Lewis blood group and H.

Detection of Rare Beta Globin Gene Mutation [+22 5UTR(G>A)] in an Infant, Despite Prenatal Screening.

Background. Beta thalassemia is one of the most common hereditary disorders worldwide. In Iran, it is frequently reported from northern and southern provinces.

Report of haemoglobin J-Toronto and alpha thalassemia in a family from North of Iran.

We report of an Iranian family with history of a rare haemoglobin variant, Haemoglobin J associated with alpha thalassemia, discovered while performing premarital thalassemia screening. In the present study we report the first case of haemoglobin J-Toronto [alpha 5 (A3) Ala > Asp] on -globin gene, found in a 16-year-old female from Mazandaran Province, North of Iran. Further investigation characterized the same mutation for mother and brother of the proband, whilst mother was also a carrier of an alpha thalassemia gene mutation (-alpha3.