Genetic Analysis of Gene in Iranian Patients with Rett Syndrome.

Objectives: Rett syndrome is an X linked dominant neurodevelopmental disorder which almost exclusively affects females. The syndrome is usually caused by mutations in gene, which is a nuclear protein that selectively binds CpG dinucleotides in the genome.

Materials & Methods: To provide further insights into the distribution of mutations in gene, we investigated 24 females with clinical characters of Rett syndrome referred to Alzahra University Hospital in Isfahan, Iran during 2015-2017.

Predicting Long-Term Cardiovascular Events after Transient Ischemic Attacks: Carotid Artery Intima-Media Thickness or ABCD2 Score or Both?

Background: Patients who experienced transient ischemic attack (TIA) are at high-risk for cardiovascular events. This study aims to evaluate diagnostic value of carotid artery intima-media thickness (CIMT) and ABCD2 score for predicting cardiovascular events in long-term follow-up after TIA. We prospectively included sixty patients with TIA who admitted to hospital from March 2016 to August 2016.

Perioperative myocardial infarction diagnosis after coronary artery bypass grafting surgery using coupled electrocardiographic changes and cardiac troponin I.

Purpose: Perioperative myocardial infarction (PMI) is one of the most common causes of prolonged intensive care unit (ICU) and hospital stay after coronary artery bypass grafting (CABG) and is associated with poor prognosis and increases postoperative mortality due to the lack of accurate diagnostic methods. This study examines the association between electrocardiography (ECG) ischemic changes and cardiac troponin I concentration.

Methods: In this cross-sectional study, the ECG of 100 patients was recorded before and 24 h after the surgery.

Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a variant.

Objective: We report 3 siblings with the characteristic features of ataxia-telangiectasia-like disorder associated with a homozygous synonymous variant causing nonsense-mediated mRNA decay (NMD) and MRE11A deficiency.

Methods: Clinical assessments, next-generation sequencing, transcript and immunohistochemistry analyses were performed.

Results: The patients presented with poor balance, developmental delay during the first year of age, and suffered from intellectual disability from early childhood.

The effects of mobile text messages on raising knowledge of men with type 2 diabetes, Isfahan, 2015: an educational experimental study.

Background: Diabetes is one of the most common metabolic disorders which are rapidly increasing. Distance training is a cost-effective, easy and accessible way in which time and place dimensions of communication are removed.

Objective: To determine the effects of mobile text messages on raising knowledge of men with type 2 diabetes.

Effect of minimally invasive endotracheal tube suctioning on physiological indices in adult intubated patients: An open-labelled randomised controlled trial.

Background: Endotracheal tube suctioning (ETS) is one of the most frequent procedures performed by nurses in intensive care units. Nevertheless, some suctioning practices are still being performed that do not provide any benefit for patients.

Objectives: To investigate the effects of minimally invasive ETS (MIETS) versus routine ETS (RETS) on physiological indices in adult intubated patients.

Establishment and Development of the First Biobank of Inflammatory Bowel Disease, Suspected to Primary Immunodeficiency Diseases in Iran.

Background: Inflammatory bowel disease (IBD) might be an immunodeficiency rather than an excessive inflammatory reaction. IBD, suspected to primary immunodeficiency diseases biobank (IBDSPIDB) as a resource for researches can help improve the prevention, diagnosis, and illness treatment and the health promotion throughout the society. Therefore, we launched the biobank of IBDSPID for the first time in Iran.

A novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial features.

Biallelic mutations of the gene encoding diphthamide biosynthesis 1 (DPH1, NM_001383.3) cause developmental delay, dysmorphic features, sparse hair, and short stature (MIM *603527). Only two missense DPH1 mutations have been reported to date.

A decade of road traffic fatalities among the elderly in north-West Iran.

Background: Iran has a uniquely catastrophic status for road traffic injury incidence and fatality. The elderly account for a substantial number of the hospitalizations and fatalities due to traffic injuries. The aim of this study was to investigate the crash mechanisms and medical outcomes of traffic fatalities among the elderly in East Azerbaijan province of Iran during the period 2006-2016.

Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies.

The skeletal ciliopathies are a heterogeneous group of disorders with a significant clinical and genetic variability and the main clinical features are thoracic hypoplasia and short tubular bones. To date, 25 genes have been identified in association with skeletal ciliopathies. Mutations in the KIAA0753 gene have recently been associated with Joubert syndrome (JBTS) and orofaciodigital (OFD) syndrome.

A Comparison of Intravenous Ephedrine or Phenylephrine, for Prevention of Postspinal Hypotension during Elective Lower Abdominal Surgery: A Randomized, Double-blind Case-control Study.

Background: In this randomized, double-blinded case-control study, we investigated the intravenous effects of ephedrine or phenylephrine on prevention of post-spinal hypotension in elective lower abdominal surgery under spinal anesthesia.

Materials And Methods: One hundred and thirty-five patients, American Society of Anesthesiologists physical status I or II candidate for elective lower abdominal surgery under spinal anesthesia were randomized to three groups (45 each). According to their allocated group, patients received either ephedrine 2.

Prevalence of 22q11.2 microdeletion syndrome in Iranian patients with cleft palate.

Background: 22q11.2 microdeletion syndrome is the most common multiple genetic disorder associated with learning disabilities, developmental delays, immune deficiency, hypocalcemia, and cleft palate. Finding some valid criteria for screening of 22q11.

Genomic rearrangement screening of the from seventy Iranian high-risk breast cancer families.

Background: The second leading cause of cancer deaths in women is breast cancer. Germline mutations in susceptibility breast cancer gene increase the lifetime risk of breast cancer. Eighty-one large genomic rearrangements (LGRs) have been reported up to date in gene, and evaluation of these rearrangements helps with precise risk assessment in high-risk individuals.

Intrauterine administration of hCG immediately after oocyte retrieval and the outcome of ICSI: a randomized controlled trial.

Study Question: Does the intrauterine administration of hCG immediately after oocyte retrieval in antagonist cycles with ICSI and fresh embryo transfer (ET) influence the implantation rate or chemical and clinical pregnancy rates?

Summary Answer: The intrauterine administration of hCG after oocyte retrieval increases the implantation rate and chemical and clinical pregnancy rates.

What Is Known Already: Over half of IVF/ICSI cycles fail due to implantation failure. Intrauterine administration of hCG, a few minutes before ET, increased the implantation and pregnancy rates in most but not in all studies.

Clinical features of the myasthenic syndrome arising from mutations in GMPPB.

Background: Congenital myasthenic syndrome (CMS) due to mutations in GMPPB has recently been reported confirming the importance of glycosylation for the integrity of neuromuscular transmission.

Methods: Review of case notes of patients with mutations in GMPPB to identify the associated clinical, neurophysiological, pathological and laboratory features. In addition, serum creatine kinase (CK) levels within the Oxford CMS cohort were retrospectively analysed to assess its usefulness in the differential diagnosis of this new entity.

The Effect of Music on Anxiety and Cardiovascular Indices in Patients Undergoing Coronary Artery Bypass Graft: A Randomized Controlled Trial.

Background: The instability of cardiovascular indices and anxiety disorders are common among patients undergoing coronary artery bypass graft (CABG) and could interfere with their recovery. Therefore, improving the cardiovascular indices and anxiety is essential.

Objectives: This study aimed to investigate the effect of music therapy on anxiety and cardiovascular indices in patients undergoing CABG.

Incidence and Risk Factors of an Intraoperative Arrhythmia in Transhiatal Esophagectomy.

Background: Transhiatal esophagectomy (THE) is a widely used technique for carcinoma of the esophagus and other conditions, such as benign strictures and motility disorders.

Objectives: The aim of our study was to quantify the incidence, predisposing factors, as well as types of arrhythmias in transhiatal esophagectomy.

Patients And Methods: In this prospective study, we selected 61 patients undergoing transhiatal esophagectomy during 2012 - 2013 in our hospital.

[Significant association between nonsyndromic cleft lip with or without cleft palate and IRF6rs2235371 polymorphism in Iranian familiar population].

According to previous studies the IRF6rs2235371 polymorphism is a risk factor for NSCL/P in different populations. However our recent study revealed no correlation between IRF6rs642961 and NSCL/P in our population. In the present study we have investigated the relationship between IRF6rs2235371 and NSCL/P in same group to determine whether IRF6rs2235371 is a risk factor in our population as well.

Identification of Proximal and Distal 22q11.2 Microduplications among Patients with Cleft Lip and/or Palate: A Novel Inherited Atypical 0.6 Mb Duplication.

Misalignments of low-copy repeats (LCRs) located in chromosome 22, particularly band 22q11.2, predispose to rearrangements. A variety of phenotypic features are associated with 22q11.

Non-syndromic cleft lip with or without cleft palate in Asian populations: Association analysis on three gene polymorphisms of the folate pathway.

Objective: Orofacial clefts (OFCs) are one of the most common birth defects in humans. They are the subject of a number of investigations aimed at elucidating the bases of their complex mode of inheritance involving both genetic and environmental factors. Genes belonging to the folate pathway have been among the most studied.

Structural and functional impact of missense mutations in TPMT: An integrated computational approach.

Background: Thiopurine S-methyltransferase (TPMT) detoxifies thiopurine drugs which are used for treatment of various diseases including inflammatory bowel disease (IBD), and hematological malignancies. Individual variation in TPMT activity results from mutations in TPMT gene. In this study, the effects of all the known missense mutations in TPMT enzyme were studied at the sequence and structural level

Methods: A broad set of bioinformatic tools was used to assess all the known missense mutations affecting enzyme activity.

Mutation spectrum of autosomal recessive non-syndromic hearing loss in central Iran.

Objective: To identify the spectrum of mutations in connexin 26 gene and frequency of two deletions in connexin 30 gene in central Iran.

Methods: After extraction of DNA from 300 blood samples, connexin 26 gene coding region was amplified using specific primers. PCR products were used for bidirectional sequencing.

Genotype and phenotype correlations in Iranian patients with hyperinsulinaemic hypoglycaemia.

Background: Hyperinsulinaemic hypoglycaemia (HH) is a group of clinically and genetically heterogeneous disorders characterized by unregulated insulin secretion. Abnormalities in nine different genes (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, HNF4A, UCP2 and HNF1A) have been reported in HH, the most common being ABCC8 and KCNJ11. We describe the genetic aetiology and phenotype of Iranian patients with HH.

Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.

Congenital myasthenic syndromes are inherited disorders that arise from impaired signal transmission at the neuromuscular junction. Mutations in at least 20 genes are known to lead to the onset of these conditions. Four of these, ALG2, ALG14, DPAGT1 and GFPT1, are involved in glycosylation.

Homozygous MAPT R406W mutation causing FTDP phenotype: A unique instance of a unique mutation.

Frontotemporal dementia is a neurodegenerative disorder among adults. An autosomal-dominantly form of frontotemporal dementia and parkinsonism linked to chromosome 17q21.2 (FTDP-17) was defined in 1996.