Association between R353Q polymorphism for coagulative factor VII and severity of coronary artery disease in Iranian population

Background: Recent research has supported the central role of coagulative factors in advancing atherosclerosis and causing coronary artery disease (CAD). The present study, for the first time, aimed to clarify the relationship between R353Q polymorphism for factor VII and the occurrence and severity of CAD in a large sample of Iranian population.Methods: Nine hundred and nineteen consecutive patients with suspected CAD, who candidated for coronary angiography in the Tehran Heart Center between January 2006 and March 2007, were examined. The number of diseased coronary vessels was determined, and the severity of CAD was assessed by the Gensini score. Genotyping was done via the PCR-RFLP method.Results: The frequency of Q and R alleles was 74.1% and 25.9% in the patients with CADand 75.2% and 24.8% in those without CAD, with an insignificant difference (p = 0.625). The frequency of Q allele in the patients with single-vessel, two-vessel, and three-vessel diseases was 72.8%, 71.5%, and 76.4%, respectively; the difference was also insignificant (p = 0.379). No relationship was observed between the distribution of the genotypes and the number of the involved coronary vessels. The average of the Gensini score was 43.39 ± 46.18 in the patients with QQ genotype, 38.87 ± 42.89 in those with QR genotype, and 55.61 ± 53.80 in the ones with RR genotype, with the difference not constituting any statistical significance (p = 0.084).Conclusions: The results suggest no association between R353Q polymorphism for factor VII and the presence or progression of CAD in the Iranian population

Effects of Problem, Intervention, Evaluation (PIE) Training on the Quality of Nursing Documentation Among Students of Hamadan University of Medical Sciences, Hamadan, Iran

Background: Documentation of nursing care is one of the most important professional responsibilities of nurses and one of the major components of medical care and patient record documentation. Objectives: The present study was performed to determine the effect of problem, intervention, evaluation (PIE) training on the quality of nursing students' documentation. Methods: In this semi-experimental single-group study with a pretest-posttest design, a total of 28 nursing students were selected by simple random sampling. The data collection tools included a demographic questionnaire, PIE documentation form, and documentation quality checklist. First, the students were asked to write two reports using the traditional or narrative method. Then, a training workshop was organized about PIE documentation, and the students were asked to use this method and write two more reports about the same patient on two consecutive days; overall, each student presented four reports. A total of 112 reports were analyzed using descriptive statistics and paired t test in SPSS. Results: Based on the results of paired t test, there was a significant difference in the mean score of documentation quality between the pretest and posttest (P < 0.001). Also, there was a significant difference in the mean score of documentation quality between the pretest and posttest in terms of both report structure and content (P < 0.001). Conclusions: Use of PIE reporting system improves the quality of nursing documentation. Therefore, it can be a suitable alternative for the current narrative or traditional method. Keywords Nursing Documentation Problem-Based Reporting Nursing Student

Pathological Variants of Aminoacyl-tRNA-synthetase-Interacting Multifunctional Protein 1 Gene in an Iranian Consanguineous Family With Autosomal Recessive Intellectual Disability

Background Intellectual disability (ID) is one of the most common neurodevelopment disorders that caused by both environment and genetic factors. Genetic diseases account for 50% of ID incidents and have important role in its development. One of the most important risk factors of ID in most countries is consanguineous marriage. In consanguineous families, the risk of developing autosomal recessive ID is 3.6-fold higher. There is high prevalence of consanguineous marriage in Iran (about 40 %). Objective In this study, we aimed to investigate the pathological variants of aminoacyl-trna-synthetaseinteracting multifunctional protein 1 (AIMP1) in an Iranian consanguineous family with multiple-ID affected members. Methods this analytical epidemiological study, whole exome sequencing method was used to examine the molecular etiology in two female ID patients of a consanguineous family living in Qazvin, Iran. Sanger sequencing was carried out for validating potential causative variants in patients, and co-segregation analysis for other family members. Findings A stop-gain variant (p. Arg158*) in the AIMP1 gene was identified as pathological variant in the study family according to American College of Medical Genetics and Genomics guidelines. Conclusion The found variant in the AIMP1 gene caused truncated protein and clinical manifestations such as developmental delay, ID, spastic paraplegia, thin corpus callosum, and speech impairment in the two patients

Comparison of the Viewpoints of Midwives Working in Teaching Hospitals and Health Centers in Tehran City about Management Factors Associated with Midwifery Errors (Iran)

Background and Objectives: Midwifery errors are associated with several problems for mother and fetus, which can lead to deadly consequences. On the other hand, if the causes of these errors are not identified, it is not possible to make appropriate decision to reduce or eliminate them. Therefore, identifying the factors associated with these errors is of particular value. The aim of this study was to identify the management factors that cause midwifery errors and the role of each factor in the occurrence of midwifery errors from the viewpoints of midwives working in Tehran city. &nbsp; Methods: This descriptive study was performed on 252 midwives working in Tehran city (2014). The data collection tool was a researcher-made questionnaire, which its face and content validity, were determined by calculating CVR and CVI indices. The reliability of the tool was confirmed by a test-retest method and calculation of Cronbach's alpha. &nbsp; Results: In this study, 176 midwives (69.8%) or their colleagues had the history of committing midwifery errors; 209 subjects (82.9%) believed that wrongdoer person reports his/her error; and 176 subjects (69.8%) stated that error report form is filled out. Moreover, the overall effect of management factor on the occurrence of midwifery errors, showed no significant difference from the viewpoints of midwives participating in the research. &nbsp; Conclusion: According to the results of the present study, management factors as the major cause of occurrence of midwifery errors, require more attention in order to reduce midwifery errors. &nbsp; &nbsp

A ROBUST OPTIMIZATION MODEL FOR BLOOD SUPPLY CHAIN NETWORK DESIGN

The eternal need for humans' blood as a critical commodity makes the healthcare systems attempt to provide efficient blood supply chains (BSCs) by which the requirements are satisfied at the maximum level. To have an efficient supply of blood, an appropriate planning for blood supply chain is a challenge which requires more attention. In this paper, we address a mixed integer linear programming model for blood supply chain network design (BSCND) with the need for making both strategic and tactical decisions throughout a multiple planning periods. A robust programming approach is devised to deal with inherent randomness in parameters data of the model. To illustrate the usefulness of the model as well as its solution approach, it is tested into a set of numerical examples, and the sensitivity analyses are conducted. Finally, we employ two criteria: the mean and standard deviation of constraint violations under a number of random realizations to evaluate the performance of both the proposed robust and deterministic models. The results imply the domination of robust approach over the deterministic one

A novel PTC mutation in the BTB domain of KLHL7 gene in two patients with Bohring-Opitz syndrome-like features

The bric-a-brac, tramtrack and broad complex (BTB) superfamily of conserved proteins are involved in ubiquitinproteasome system that contains the Kelch-like (KLHL) gene family. Kelch-like family member 7 (KLHL7), one of the KLHL gene family, consists of one BTB/POZ domain, one BACK domain and five or six Kelch motifs. Numerous variants in KLHL7 gene domains have been reported with Crisponi syndrome/cold-induced sweating syndrome type 1 (CS/CISS1)-like features and retinitis pigmentosa 42, and have recently been identified as causing Bohring-Opitz syndrome (BOS)-like features. We report two siblings with BOS-like phenotype with healthy parents and living in Qazvin province (Central Iran). We performed whole-exome sequencing (WES) on the older patient and Sanger sequencing was carried out for validation of potential causative variants in the close family. A novel homozygous frameshift mutation, p.(Phe83Leufs*3), was identified in the BTB domain of KLHL7 that caused a premature translation-termination codon (PTC) in the two siblings with severe developmental delay, microcephaly, facial dysmorphism, peripheral retinal and optic disc atrophy and cardiac septal defects. Our findings are in agreement with the clinical spectrum of KLHL7 mutations, which are associated with BOSlike features that reports for first time in our population

Health Risks of Heavy Metals for Population via Consumption of Greenhouse Vegetables in Hamadan, Iran

Background & Aims of the Study: The last 25 years have seen a remarkable increase in public concern about food contamination. Food and water are the main sources of our essential metals.These are also the media through which we are exposed to various toxic metalsAs such, this study aimed to assess the risks arising from the use of greenhouse vegetables, cucumbers, tomatoes and peppers in Hamadan Province. Materials & Methods: Soil and plant samples were digested using wet digestion method (HClO4/HNO3, 2:1) ratio solution, and the concentrations of total As, Cd, Cu, Pb, and Zn were determined using Inductively Coupled Plasma Atomic Emission Spectroscopy (ICP-AE). Results: High concentrations of elements As, Cd, Cu, Pb, and Zn were found in vegetables sampled from overused phosphate fertilized soils, which increased the daily intake of metals in food. The Health risk assessment values of all tested vegetables (pepper, cucumber and tomato) were below 1 in As and Cd. The health risk index (HRI) value above 1 indicated a relative health risk through the ingestion of contaminated vegetables. Conclusions: Heavy metal concentrations should be periodically monitored in vegetables grown in contaminated soils. This study found that long-term fertilizer use led to a growing accumulation of heavy metals (HMs) in soils. It would also be beneficial to implement effective remediation technologies to minimize possible impacts on human health

A Novel ARMC5 Germline Variant in Primary Macronodular Adrenal Hyperplasia Using Whole-Exome Sequencing

Background: Primary macronodular adrenocortical hyperplasia (PMAH) is a rare form of adrenal Cushing&rsquo;s syndrome with incomplete penetrance which may be sporadic or autosomal dominant. The inactivation of the ARMC5 gene, a potential tumor suppressor gene, is one of the associated causes of PMAH. This study aimed to identify the variant responsible for Iranian familial PMAH. Methods: The proband, a 44-year-old woman, was directed to whole-exome sequencing (WES) of the blood sample to discover a germline variant. In addition, the identified causative variant was confirmed and segregated in other and available unaffected family members. Results: The novel germline heterozygous missense variant, c.2105C&gt;A in the ARMC5 gene, was found, and the same germline variant as the proband was confirmed in two affected sisters. This variant was detected in the brother of the proband with an asymptomatic condition and this considered because of incomplete penetrance and age-dependent appearance. The function of the ARMC5 protein would be damaged by the identified variant, according to in silico and computer analyses that followed. Conclusion: The new germline ARMC5 variation (c.2105C&gt;A, (p. Ala702Glu)) was interpreted as a likely pathogenic variant based on ACMG and Sherloc standards. PMAH may be diagnosed early using genetic testing that shows inherited autosomal dominant mutations in the ARMC5 gene