X-linked hyper-IgM syndrome associated with pulmonary manifestations: A very rare case of functional mutation in CD40L gene in Iran

Hyper IgM (HIGM) syndromes are a complex of primary immunodeficiency disorders. A 4-years-old boy with recurrent fever and chills, dyspnea, sort throat for a month was admitted to emergency department. In the current case, whole exome sequencing followed by Sanger sequencing were employed in order to screen probable functional mutations. Molecular analysis revealed a functional mutation across the CD40L gene (NM000074: exon5: c.T464C) resulted in amino acid change p.L155P attributed to X-linked hyper IgM syndrome. The findings of the current study signify the critical role of microbial infection as well as XHIGM screening, particularly in those children cases with respiratory symptoms. © 2018 Elsevier Masson SA

Consensus Middle East and North Africa Registry on Inborn Errors of Immunity

Background: Inborn errors of immunity (IEIs) are a heterogeneous group of genetic defects of immunity, which cause high rates of morbidity and mortality mainly among children due to infectious and non-infectious complications. The IEI burden has been critically underestimated in countries from middle- and low-income regions and the majority of patients with IEI in these regions lack a molecular diagnosis. Methods: We analyzed the clinical, immunologic, and genetic data of IEI patients from 22 countries in the Middle East and North Africa (MENA) region. The data was collected from national registries and diverse databases such as the Asian Pacific Society for Immunodeficiencies (APSID) registry, African Society for Immunodeficiencies (ASID) registry, Jeffrey Modell Foundation (JMF) registry, J Project centers, and International Consortium on Immune Deficiency (ICID) centers. Results: We identified 17,120 patients with IEI, among which females represented 39.4%. Parental consanguinity was present in 60.5% of cases and 27.3% of the patients were from families with a confirmed previous family history of IEI. The median age of patients at the onset of disease was 36 months and the median delay in diagnosis was 41 months. The rate of registered IEI patients ranges between 0.02 and 7.58 per 100,000 population, and the lowest rates were in countries with the highest rates of disability-adjusted life years (DALY) and death rates for children. Predominantly antibody deficiencies were the most frequent IEI entities diagnosed in 41.2% of the cohort. Among 5871 patients genetically evaluated, the diagnostic yield was 83% with the majority (65.2%) having autosomal recessive defects. The mortality rate was the highest in patients with non-syndromic combined immunodeficiency (51.7%, median age: 3.5 years) and particularly in patients with mutations in specific genes associated with this phenotype (RFXANK, RAG1, and IL2RG). Conclusions: This comprehensive registry highlights the importance of a detailed investigation of IEI patients in the MENA region. The high yield of genetic diagnosis of IEI in this region has important implications for prevention, prognosis, treatment, and resource allocation

X-linked hyper-IgM syndrome associated with pulmonary manifestations: A very rare case of functional mutation in CD40L gene in Iran

Hyper IgM (HIGM) syndromes are a complex of primary immunodeficiency disorders. A 4-years-old boy with recurrent fever and chills, dyspnea, sort throat for a month was admitted to emergency department. In the current case, whole exome sequencing followed by Sanger sequencing were employed in order to screen probable functional mutations. Molecular analysis revealed a functional mutation across the CD40L gene (NM000074: exon5: c.T464C) resulted in amino acid change p.L155P attributed to X-linked hyper IgM syndrome. The findings of the current study signify the critical role of microbial infection as well as XHIGM screening, particularly in those children cases with respiratory symptoms. © 2018 Elsevier Masson SAS

Identifying sustainable warehouse management system indicators and proposing new weighting method

The performance of a sustainable warehouse management system is a multidimensional concept based on the triple bottom line approach. It has been a challenge to identify the key performance indicators for a sustainable warehouse management system and to develop a model for evaluating the direct and indirect indicators. In order to overcome this challenge, this paper describes a method to identify and weight indicators that assess sustainability in a sustainable warehouse management system using structural equation modeling. A comprehensive literature review has been conducted and a questionnaire survey involving experts in the field has been undertaken. A list of 33 key performance indicators for a sustainable warehouse management system has been proposed, and this can be used by policymakers to appraise the sustainability performance of a sustainable warehouse management system. The proposed robust model can weight indicators and evaluate the total effect of each indicator in incorporating sustainability in a sustainable warehouse management system. The developed method could also be applied to weighting indicators for other industries

Dynamic failure behavior of glass/epoxy composites under low temperature using Charpy impact test method

211-220This paper demonstrates results of an experimental study on glass/epoxy laminated composites subjected to low velocity impact at energy levels equal to 10, 15 and 30 J under variable temperatures in the range of -30°C to 23°C. The configuration of specimens is quasi-isotropic. The low temperature and its influence on the maximum absorbed energy, elastic energy, crack length and delamination are highlighted. Also, the effects of geometry index (span-to-depth) and notch orientation are studied. Failure mechanisms of specimens are examined using microscopic examinations. Results indicate that impact performance of these composites is affected over the range of temperature considered. Failure mechanism is changed from matrix cracking at room temperature to delamination and fiber breakage at low temperatures

Comparing the effect of progressive muscle relaxation exercise and support group therapy on the happiness of nursing students: A randomized clinical trial study

Background: Some nursing students might experience lower and median levels of happiness; hence, providing some interventions would be crucial for them. Objective: This study aimed to compare the effects of Progressive Muscle Relaxation (PMR) exercise and support group therapy on happiness amongst nursing students. Design: This was a randomized controlled trial study. Participants: In this study, 150 nursing students participated. They were selected from nursing and midwifery school of Shiraz University of Medical Sciences. Methods: 150 nursing students were divided into three groups (PMR exercise (n = 50), support group therapy (n = 50), and control (n = 50)). PMR exercise and support group therapy were carried out over five consecutive 45-minute sessions per week for 50 participants in groups of 10. Oxford Happiness Inventory was used before and after the interventions. In order to compare the mean score of happiness between two and three groups, t-test, and ANCOVA were used, respectively. Results: After the intervention, the mean scores of happiness were 55.26 (SD = 16.26), 35.16 (SD = 12.69), and 34.22 (SD = 11.83) in the PMR exercise, support group therapy, and control groups, respectively. The results indicated a significant difference amongst the three groups regarding happiness after the intervention (p < 0.05). A significant difference was observed between the PMR exercise and the control group regarding happiness (p < 0.05). In addition, the mean score of happiness was significantly higher in the PMR exercise group compared to the support group therapy after the intervention (p < 0.05). In the PMR exercise group, a significant difference was found regarding the mean change of students� happiness before and after the intervention (t = -4.29, p < 0.001). Conclusion: Considering the positive effects of PMR exercise and support group therapy in increasing nursing students� happiness, educational authorities and educators are recommended to use these therapies during the course of nursing� Bachelor's degree to increase happiness within students and positive outlooks amongst groups. © 202

Which is Better for Pain Reduction before Venipuncture: Glucose, Lidocaine or Expressed Breast Milk? Introduction and Aim

Abstract Aim: The aim of this study was to compare effects of 2 cc oral glucose (50%), topical application of lidocaine, 2 cc of expressed breast milk (EBM), and nothing per oral for reducing of pain before painful procedures. Patients and methods: In this case-control study, 121 term neonates were included. There were 3 groups of cases and one control group. Inclusion criteria were: term neonates (38-42 weeks); stable condition; per oral feeding; five minutes APGAR&gt;7; and no history of narcotic usage. Neonates were randomly divided in 4 groups. Two milliliter of glucose solution (50%), topical application of lidocaine, and 2 cc of expressed breast milk via syringe were used for group I, II, and III respectively. Group IV is the control group. For control group, no additional measure was done. Data analysis was performed using SPSS ver 11.0 (SPSS Inc, Chicago, IL, USA). Chi-square, t-test, and ANOVA were used for analysis. P&lt;0.05 was considered significant. Results: Score of Douleur Aiguë Nouveau-né was significantly lower in group III compared to other group (P&lt;0.05, Tukey). Crying time in group III was significantly lower than group IV. Respiratory rate in group II was significantly lower than group IV (P=0.018). Pulse rate was significantly lower in group III compared to other group. Conclusion: Expressed breast milk is the safe and natural agents for reducing pain of neonates. Another clinical trial study with more samples is recommended