Identification of disease-causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families

Neurodevelopmental delay and intellectual disability (ID) can arise from numerous genetic defects. To date, variants in the EXOSC gene family have been associated with such disorders. Using next-generation sequencing (NGS), known and novel variants in this gene family causing autosomal recessive ID (ARID) have been identified in five Iranian families. By collecting clinical information on these families and comparing their phenotypes with previously reported patients, we further describe the clinical variability of ARID resulting from alterations in the EXOSC gene family, and emphasize the role of RNA processing dysregulation in ARID.     

The Effectiveness of Self-care Program on the Life Quality of Patients with Multiple Sclerosis in 2015

This study aimed to investigate the effectiveness of self-care plan on the life quality of patients with Multiple sclerosis (MS). The samples in this study included all the patients with MS under medical coverage of Iranian Association of supporting patients with MS in Tehran in 2015 who were studied as Convenience sampling and based on the inclusion and exclusion criteria. In this study, Dr. Madani's self-care program as an intervention and The World Health Organization Quality of Life (WHOQOL)-BREF for assessment of consequences were used. Spss software using Wilcoxon and ANOVA tests were used to analyze the data. Values are significant at P value less than 0.05. Before the intervention, the quality of life was 59.91 ± 13.39 and after the intervention, it was 69.37 ± 11.73 and there was a significant difference between them (P value < 0.001). Also, there was a significant difference between the items of life quality-including the physical, psychological and social relationships and living environment items-before and after the interventions. Self-care program has an effect on the quality of life and physical, psychological and social relationships and living environment items.     

Extrahepatic, nonneoplastic, fat-containing lesions of the abdominopelvic cavity: spectrum of lesions, significance, and typical appearance on multidetector computed tomography

Fat may be noted in a diffuse or focal manner in a variety of nonneoplastic abdominopelvic conditions. The specific signature of macroscopic fat on computed tomography along with the usually characteristic findings of these entities makes the diagnosis of most of these conditions relatively straightforward. In the intestinal tract, the "fat halo sign" usually arises in the context of subacute to chronic bowel wall inflammation. Excess fat in the renal sinus may occur with renal sinus lipomatosis or "replacement lipomatosis of the kidney." Some cases of "pancreatic lipomatosis" may culminate in steatopancreatitis and ultimately neoplastic transformations. "Fibrofatty mesenteric proliferation" is a characteristic feature of Crohn disease. In the setting of the acute abdomen, accurate diagnosis of fat-containing lesions (epiploic appendagitis or omental infarction) from other causes of the acute abdomen is critical. Mesenteric panniculitis is 1 of the causes of the "misty mesentery." Juxtacaval fat deposition is a benign process that has the potential to be confused with more serious conditions. More diffuse fat deposition (abdominal or pelvic lipomatosis) has the potential to become symptomatic by causing mass effect upon the adjacent structures. Fat can also be seen in a variety of postoperative/iatrogenic conditions or abdominal wall/diaphragmatic hernias.     

Socioeconomic inequality in screen time frequency in children and adolescents: the weight disorders survey of the CASPIAN IV study

Background

This study aimed to assess the socioeconomic inequality and determinants of screen time (ST) frequency in Iranian children and adolescents.

Methods

This nationwide study was conducted as part of a national school-based surveillance program among 36,486 students consisting of 50.79% boys and 74.23% urban inhabitants, aged 6–18 years, living in urban and rural areas of 30 provinces of Iran. Socioeconomic inequality in ST, including the time spent for ST, watching TV and leisure-time working with computer, was assessed across quintiles of SES using concentration index (C) and slope index of inequality (SII).

Results

Overall, 36,486 students completed the study (response rate 91.25%). Their mean (SD) age was 12.14 (3.36) years. The national estimation of frequency of ST was 31.66% (95% CI 31.16–32.17) with ascending change from 20.80% (95% CI 19.81–21.82) to 36.66% (95% CI 35.47–37.87) from the first to the last quintal of SES. Estimated C value at national level was positive (0.08), which indicate inequality was in favor of low SES groups. Considering the SII values, at national level [? 0.16 (? 0.39, 0.06)], the absolute difference in ST frequency between the bottom and top of the socioeconomic groups had descending trends. In multivariate logistic regression model, family history of obesity, generalized obesity and age were the main significant determinants of prolonged ST, watching TV, and computer working (P < 0.001).

Conclusions

Socioeconomic inequality in ST frequency was in favor of low SES groups. These findings are useful for health policies, better programming and future complementary analyses.

     

Positive guaiac and bloody stool are poor predictors of intussusception

Background

Currant jelly stool is a late manifestation of intussusception and is rarely seen in clinical practice. Other forms of GI bleeding have not been thoroughly studied and little is known about their respective diagnostic values.

Should patients with complex febrile seizure be admitted for further management?

Background and aims

Children with first complex febrile seizure (CFS) are often admitted for observation. The goals of this study were 1) to assess the risk of seizure recurrence during admission, 2) to determine whether early EEG affects acute management.

Collagenous matrix supported by a 3D-printed scaffold for osteogenic differentiation of dental pulp cells

Objective

A systematic characterization of hybrid scaffolds, fabricated based on combinatorial additive manufacturing technique and freeze-drying method, is presented as a new platform for osteoblastic differentiation of dental pulp cells (DPCs).

Errors of epinephrine administration during severe allergic-like contrast reactions: lessons learned from a bi-institutional study using high-fidelity simulation testing

Purpose

To determine the most common errors of epinephrine administration during severe allergic-like contrast reaction management using high-fidelity simulation surrogates.

Materials and methods

IRB approval and informed consent were obtained for this HIPAA-compliant bi-institutional prospective study of 40 radiology residents, fellows, and faculty who were asked to manage a structured high-fidelity severe allergic-like contrast reaction scenario (i.e., mild hives progressing to mild bronchospasm, then bronchospasm unresponsive to bronchodilators, and finally anaphylactic shock) on an interactive manikin. Intravenous (IV) and intramuscular epinephrine ampules were available to all participants, and the manikin had a functioning intravenous catheter for all scenarios. Video recordings of their performance were reviewed by experts in contrast reaction management, and errors in epinephrine administration were recorded and characterized.

Results

No participant (0/40) failed to give indicated epinephrine, but more than half (58% [23/40]) committed an error while doing so. The most common mistake was to administer epinephrine as the first-line treatment for mild bronchospasm (33% [13/40]). Other common errors were to administer IV epinephrine without a subsequent IV saline flush or concomitant IV fluids (25% [10/40]), administer an overdose of epinephrine (8% [3/40]), and administer epinephrine 1:1000 intravenously (8% [3/40]).

Conclusion

Epinephrine administration errors are common. Many radiologists fail to administer albuterol as the first-line treatment for mild bronchospasm and fail to flush the IV catheter when administering IV epinephrine. High-fidelity contrast reaction scenarios can be used to identify areas for training improvement.