21 research outputs found
Comparative ontogenetic survey of the essential oil composition in Origanum vulgare L., and Origanum majorana L
The aim of this study was to evaluate the influences of the different harvest stages
on the value and components of the essential oil (EO) of wild oregano (Origanum vulgare L.)
and European marjoram (Origanum majorana L.). Two species were collected during five stages
of vegetative and reproductive growth period with four replications. The content of EO in the
dried aerial parts was determined by hydro-distillation of herbs, and its constituents determined
by gas chromatography (GC) and gas chromatography mass spectrometry (GC/MS). The analysis
showed that the amount of EO in O. majorana was more than O. vulgare. The highest EO content
for both species were obtained in the full flowering stage. 78 and 39 components were
identified in the EO of O. vulgare and O. majorana, respectively. The main components were
germacrene D, (trans)caryophyllene, terpinene-4-ol, and a-terpinene in the EO of O. vulgare,
and terpinene-4-ol, y-terpinene, a-terpinene, and a-terpineol in the EO of O. majorana. In general,
sesquiterpene compounds had maximum amounts in the EO of O. vulgare in five stages of
growth, especially in the beginning of flowering stage. In contrast, monoterpene compounds
had maximum value in the EO of O. majorana in the full flowering stage
The Performance of Bilingual and Monolingual Children on Working Memory Tasks
Objectives: The purpose of this research was to explore the possible differences in the working memory of monolingual (Persian) and bilingual (Persian-Baluchi) children. We wanted to examine if there is a statistically significant relationship between working memory and bilingualism. Methods: Four working memory (WM) tests, assessing three WM components, were administered to 140 second grade school students, of whom 70 were monolinguals (35 girls and 35 boys) and 70 were bilinguals (35 girls and 35 boys). The tests used are the following: Forward Digit Span Test, Backward Digit Span Test, Non Word Repetition Test, Maze Memory Test. The results of the two groups were analyzed with multi-group confirmatory factor analysis, aiming to find out any differences in the working memory function of bilingual and monolingual children, and to determine which group has an advantage. Results: The multi-group confirmatory factor analysis was used to measure various WM factors across the two language groups. The findings showed that there were significant language effects on Forward and Backward Digit Span and Non Word Repetition Task (p‹0.001), and no significant language effects on Maze Memory (p›0.001). Discussion: This study revealed that bilingual children had a better WM, which holds processes and updates information over short periods of time, than monolingual children
A novel TECTA mutation causes ARNSHL
Objective Autosomal recessive nonsyndromic hearing loss (ARNSHL) is a genetically heterogeneous sensorineural disorder. Alpha-tectorin, which is encoded by the TECTA gene, is a non-collagenous component of the tectorial membrane in the inner ear defect of which leads to moderate to severe hearing loss (HL). Methods 25 unrelated Iranian multiplex ARNSHL families, negative for GJB2 mutations, were recruited in this study. Clinical inspections including audiometric and otologic examinations ruled out syndromic forms. Genetic linkage analysis was performed using six short tandem repeat markers closely linked to DFNB21. Haplotype and LOD score analysis were used to confirm possible linkage. All coding exons of TECTA were subject to DNA sequencing in the linked family. Results A novel homozygous variant (c.734G > A) was found in exon 5 of the TECTA gene in one family leading to a nonsense mutation (p.W245×). It co-segregated with HL in the family. This variant was not detected in 50 controls. All affected individuals in the family had moderate to severe HL. It full filled the criteria of a pathogenic variant. Conclusion Our data confirms the phenotype-directed genotyping for DFNB21 deafness against the typical profound HL phenotype seen in the most families segregating ARNSHL. We recommend mutation screening of TECTA in ARNSHL families segregating moderate to severe HL phenotyp
A novel pathogenic variant in the MARVELD2 gene causes autosomal recessive non-syndromic hearing loss in an Iranian family
BACKGROUND AND AIMS:
Hearing loss (HL) is the most common sensorineural disorder and one of the most common human defects. HL can be classified according to main criteria, including: the site (conductive, sensorineural and mixed), onset (pre-lingual and post-lingual), accompanying signs and symptoms (syndromic and non-syndromic), severity (mild, moderate, severe and profound) and mode of inheritance (Autosomal recessive, autosomal dominant, X-linked and mitochondrial). Autosomal recessive non-syndromic HL (ARNSHL) forms constitute a major share of the HL cases. In the present study, next-generation sequencing (NGS) was applied to investigate the underlying etiology of HL in a multiplex ARNSHL family from Khuzestan province, southwest Iran.
METHODS:
In this descriptive study, 20 multiplex ARNSHL families from Khuzestan province, southwest of Iran were recruited. After DNA extraction, genetic linkage analysis (GLA) was applied to screen for a panel of more prevalent loci. One family, which was not linked to these loci, was subjected to Otogenetics deafness Next Generation Sequencing (NGS) panel.
RESULTS:
NGS results showed a novel deletion-insertion variant (c.1555delinsAA) in the MARVELD2 gene. The variant which is a frameshift in the seventh exon of the MARVELD2 gene fulfills the criteria of being categorized as pathogenic according to the American College of Medical Genetics and Genomics (ACMG) guideline.
CONCLUSION:
NGS is very promising to identify the molecular etiology of highly heterogeneous diseases such as HL. MARVELD2 might be important in the etiology of HL in this region of Iran
Genetic Linkage Analysis of the DFNB21 Locus in Autosomal Recessive Hearing Loss in Large Families from Khuzestan Province
Background: Hearing loss (HL) is the most common congenital defect in humans. One or two
in thousand newborn babies have prelingual hearing loss. Autosomal recessive non-syndromic hearing
loss (ARNSHL) is the most common form of hereditary deafness. Hearing loss is more common in the
developing countries which is due to genetic and environmental (cultural -health factors) reasons. HL
has a wide range of clinical demonstrations including: congenital or late onset, conductive or sensoryneural,
syndromic or non-syndromic hearing loss. The goal of this project is to determine the portion
of the DFNB21 (TECTA) in ARNSHL in families with negative GJB2 gene in Khuzestan province.
Materials and Methods: We studied 21 families with ARNSHL with at least 4 patients and
negative for GJB2 mutations from Khuzestan province. Genetic linkage analysis was performed using
STR markers linked to DFNB21 locus.
Results: Following genetic linkage analysis and haplotyping, out of 21 families with
ARNSHL, one family showed linkage to the DFNB21 (TECTA) locus.
Conclusion: The results of this project confirm other studies in Iran and give insight into the
most common loci causing ARNSHL in Iran which could be helpful in research and clinic
Effect of Smoking Cessation on Left Ventricular Ejection Fraction after Acute ST Elevation Myocardial Infarction
BACKGROUND: Acute Myocardial Infarction (AMI) is the leading cause of global mortality. Moreover, Left Ventricular Ejection Fraction (LVEF) is the most important predictor of post-AMI mortality. Thus, the present study aimed to investigate the relationship between smoking cessation and LVEF following one year from the STEMI.CASE REPORT: The present study was a part of the Kermanshah STEMI Registry and included 825 smokers admitted to Imam Ali Hospital, Kermanshah, Iran, with AMI during a 2-year study period. Data collection was performed using the standardized case report form by the European Observational Registry Program (EORP). Moreover, multiple logistic regression was used to compare LVEF between the patients who had quit smoking post-AMI and those who were still smokers after one year. Also, one-to-one Propensity Score Matching (PSM) was used to reduce the assessment error and selection bias, increase the result accuracy, and minimize the effects of confounders on the LVEF-smoking relationship.Results: Following one year after AMI, 219 (26.55%) patients had quit smoking, while 606 (73.45%) still smoked. Using the PSM, a total of 168 ex-smokers were matched to 168 current smokers. Moreover, it was shown that LVEF was higher in current smokers compared to ex-smokers. However, the difference was not significant. Also, multiple logistic regression showed that the Odds Ratio (OR) of LVEF reduction was insignificantly higher in ex-smokers (OR=1.13; 95% CI: 0.98-1.29) compared to current smokers. Multivariate regression analysis found similar results even after the application of PSM (OR 1.02; 95% CI: 0.82-1.22).CONCLUSIONS: Given the low rate of smoking cessation after MI, physicians are recommended to ask about the smoking status of MI patients at each office visit or re-admission and strongly recommend quitting smoking
Contributions of External Attentional Focus, Enhanced Expectancies and Autonomy Support to Enhance Learning Skills of Throwing Darts
Objective: This study aimed to investigate the effect of the combination of attention (external focus) and internal motivation (autonomy support and enhanced expectancies) on learning the skill of throwing darts.
Methods: For this purpose, 60 women participated in the study. our study included 4 groups: a) autonomy support - external focus (AS-EF); b) enhanced expectancies - external focus (EE-EF); C) enhanced expectancies - autonomy support (EE-AS); and d) enhanced expectancies - autonomy support - external focus (EE-AS-EF). Participants were asked to throw darts at a target with their non-dominant arm. In the EE conditions, they received (false) positive social-comparative feedback. In the AS conditions, they were allowed to throw 5 of 10 trials in each block with their dominant arm chosen by them. In the EF conditions, participants were asked to focus on the target. on the post-test after the end of the training period and retention and transfer test 24 hours after practice, the AS-EE-EF group had the highest accuracy scores and outperformed all other groups.
Results: The results of the between-group comparison for throwing accuracy showed that the EE-AS-EF group was a significant difference compared to the other groups.
Conclusions: The findings provide evidence that enhanced expectancies, autonomy support, and an external focus can contribute in an additive style to optimize motor performance and learning
Electrocatalytic Determination of Captopril on Gold Nanoparticle-Modified Carbon Paste Electrode.
The electrochemical behavior of captopril at the surface of a carbon-paste electrode (CPE) modified with gold nanoparticles (GNPs) is described. The prepared electrode shows an excellent electrocatalytic activity toward the oxidation of captopril, which is leading to marked considerable improvement of sensitivity. Whereas at the surface of unmodified electrode an electrochemical activity for captopril cannot be observed, a very sharp anodic wave with an anodic peak potential about 1.0V (versus Ag/AgCl) is obtained using the prepared modified electrode. Captopril oxidation on CPE/GNPs proceeds at pH between 4.0 and 10.0. Under the optimized conditions, the electrocatalytic oxidation peak current of captopril showed two linear dynamic ranges with a detection limit of 8.28×10-2 µM captopril. The linear calibration range was 1.14-16.98 and 21.49-62.1 µM using amperometric. Finally, the sensor was examined as a selective, simple, and precise new electrochemical sensor for the determination of captopril in pharmaceutical samples including tablets and satisfactory results were obtained
Genetic Linkage Analysis of DFNB2 Locus with Autosomal Recessive Hearing Loss in Families Negative for GJB2 Mutations in Khuzestan Province
Abstract
Background: Hearing loss is a common sensory impairment in humans which half of its causes are genetic reasons. Genetic hearing loss can be divided into the two types of syndromic and non-syndromic, which 80% of non-syndromic cases is Autosomal Recessive Non-Syndromic Hearing Loss. The aim of the present research is to determine the contribution of DFNB2 locus (MYO7A gene) in causing an autosomal recessive hearing loss in the one group of the deaf families of Khuzestan province.
Materials and Methods: This study was conducted on 26 families with autosomal recessive hearing loss (with 4 patients) and negative for GJB2 mutations in Khuzestan province. 22 families suffered from ARNSHL and 4 families suffered from Usher syndrome. Linkage analysis was performed by using STR (Short Tandem Repeat) markers related to DFNB2 locus. Each family’s genotype was determined by PCR-PAGE method. Furthermore, haplotypes drawing and LOD score calculations were performed.
Results: From 26 families with hearing loss participating in this research, following genetic linkage analysis and haplotypes drawing, two families (7.7% of the families) showed linkage to DFNB2 locus. One family (4.5%) suffered from ARNSHL and another family suffered from Usher syndrome.
Conclusion: The results of the present research show that the contribution of DFNB2 locus in causing hearing loss in the population of Khuzestan province was similar to other studies conducted in Iran and this locus with other important loci should be considered to check in the hearing loss panel
A Novel Pathologic Variant in OTOF in an Iranian Family Segregating Hereditary Hearing Loss
Objective: Hearing loss (HL) is the most common sensory-neural defect and the most heterogeneous trait in humans, with the involvement of >100 genes, which make a molecular diagnosis problematic. Next-generation sequencing (NGS) is a new strategy that can overcome this problem. Study Design: Descriptive experimental study. Setting: Diagnostic laboratory. Subjects and Methods: A comprehensive family history was obtained, and clinical evaluations and pedigree analysis were performed in a family with multiple individuals with HL. As the first tier, GJB2 was sequenced, and genetic linkage analysis of DFNB1A/B was performed to rule out the most common cause of the disease. Targeted NGS was used to unravel the molecular etiology of the disease in the HL-associated genes in the proband. Two homozygous variants remained in OTOF after proper filtration. Cosegregation and in silico analysis were done. Preimplantation genetic diagnosis (PGD) was accomplished via linkage analysis and direct sequencing of the pathogenic variant. Results: Clinical evaluations suggested autosomal recessive nonsyndromic HL. Two homozygous variants, c.367G>A (p.Gly123Ser) and c.1392+1G>A, were identified in cis status. c.1392+1G>A met the criteria for being pathogenic according to the variant interpretation guideline of the American College of Medical Genetics and Genomics. PGD was successfully performed to prevent the recurrence of the disease in the related family. Conclusion: A novel OTOF mutation causing HL was identified. Here, we report the effectiveness of the combined application of targeted NGS and PGD in diagnosis and prevention of hereditary HL. © 2018, © American Academy of Otolaryngology–Head and Neck Surgery Foundation 2018