Investigation of chromosomal abnormalities and microdeletion/ microduplication(s) in fifty Iranian patients with multiple congenital anomalies

Objective: Major birth defects are inborn structural or functional anomalies with long-term disability and adverse impacts on individuals, families, health-care systems, and societies. Approximately 20 of birth defects are due to chromosomal and genetic conditions. Inspired by the fact that neonatal deaths are caused by birth defects in about 20 and 10 of cases in Iran and worldwide respectively, we conducted the present study to unravel the role of chromosome abnormalities, including microdeletion/microduplication(s), in multiple congenital abnormalities in a number of Iranian patients. Materials and Methods: In this descriptive cross-sectional study, 50 sporadic patients with Multiple Congenital Anomalies (MCA) were selected. The techniques employed included conventional karyotyping, fluorescence in situ hybridization (FISH), multiplex ligation-dependent probe amplification (MLPA), and array comparative genomic hybridisation (array-CGH), according to the clinical diagnosis for each patient. Results: Chromosomal abnormalities and microdeletion/microduplication(s) were observed in eight out of fifty patients (16). The abnormalities proved to result from the imbalances in chromosomes 1, 3, 12, and 18 in four of the patients. However, the other four patients were diagnosed to suffer from the known microdeletions of 22q11.21, 16p13.3, 5q35.3, and 7q11.23. Conclusion: In the present study, we report a patient with 46,XY, der(18)12/46,XY, der(18), +mar8 dn presented with MCA associated with hypogammaglobulinemia. Given the patient�s seemingly rare and highly complex chromosomal abnormality and the lack of any concise mechanism presented in the literature to justify the case, we hereby propose a novel mechanism for the formation of both derivative and ring chromosome 18. In addition, we introduce a new 12q abnormality and a novel association of an Xp22.33 duplication with 1q43q44 deletion syndrome. The phenotype analysis of the patients with chromosome abnormality would be beneficial for further phenotype-genotype correlation studies. © 2019 Royan Institute (ACECR). All rights reserved

Alternative medicine and herbal remedies in the treatment of erectile dysfunction: A systematic review

Objectives: To systematically review and discuss the current evidence from placebo-controlled clinical trials that investigated the use of alternative medicines and herbal remedies in the management of erectile dysfunction (ED). Methods: A Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA)- based systematic review using specific keyword combinations was conducted on the PubMed and Scopus databases. Randomised controlled trials investigating herbal medicine in at least one group and using the International Index of Erectile Function (IIEF) as an outcome in patients primarily diagnosed with ED were included for review. Results: Following the literature search, screening and eligibility analysis, a total of 42 articles were included. The 42 articles were categorised as single herb extractions (n = 14), combination herbal formula (n = 5), combination of herbal formula and non-herbal nutraceuticals (n = 7), non-herbal nutraceuticals (n = 5), acupuncture and moxibustion (n = 2), diet and nutrition (n = 3), exercise (n = 5), and topical treatments (n = 1). Based on the results, Korean ginseng, Pygnogenol and Prelox, Tribulus terrestris, Lepidium meyenii, L-arginine, acupuncture and lifestyle interventions were the more predominantly investigated treatments interventions for ED. Conclusions: Panax ginseng, Pygnogenol, Prelox and Tribulus terrestris have promising evidence as herbal products, alongside L-arginine as a nutritional supplement, for ED based on IIEF outcomes, and warrant further clinical investigation. The mechanisms of action remain unclear, but each of these appears to in part increase nitric oxide synthesis. Importantly, improved diet and exercise should be considered, particularly in patients with obesity or diabetes mellitus

Cornelian cherry (Cornus mas L.) fruit extract improves growth performance, disease resistance, and serum immune-and antioxidant-related gene expression of common carp (Cyprinus carpio)

This study evaluated the use of cornelian cherry (Cornus mas L.) fruit extract on the growth performance, immune responses, and disease resistance in common carp (Cyprinus carpio). A total of 192 fish (initial body weight of 18.34 ± 1.8 g) were randomly distributed in 12 tanks with 16 fish per tank (4 treatments with 3 replications) and fed with diets containing cornelian cherry extract (CCE) at the rate of 0, 0.25, 0.5 and 1%. The final weight of common carp fed CCE at 0.5% was significantly higher than fish fed 0 and 0.25% doses (p < 0.05). In addition, weight gain and specific growth rate were increased, and feed conversion ratio decreased in fish-fed diets containing 0.5 and 1% CCE compared to other groups. The challenge test with A. hydrophila revealed that common carp-fed CCE had a lower mortality rate than the control. The lysozyme activity was markedly higher in common carp fed 0.5% of cornelian cherry extract than in control. The total immunoglobulin and total protein showed higher values in fish fed 0.5 and 1% than the control. The catalase gene showed higher mRNA levels in fish fed 0.5 and 1% than the control. Glutathione reductase gene expression was markedly upregulated in common carp fed 1% of CCE than the control and 0.25% groups. The glutathione S-transferase gene showed higher mRNA levels in fish fed 0.5 and 1% than the control and 0.25% groups. The superoxide dismutase gene expression was markedly higher in common carp fed 0.5% of CCE than in control. The CC-chemokine and interleukin-10 showed higher mRNA levels in fish fed 0.5% than the remaining groups. Hypoxia-inducible factor 1-alpha gene expression was markedly upregulated in common carp fed 1% of CCE than the control and 0.25% groups. The heat shock 70 kDa protein and interleukin-1 beta genes showed higher mRNA levels in fish fed 0.25, 0.5, and 1% than the control. In conclusion, the supplementation of CCE at 0.5–1% is recommended to enhance the growth performance and relieve the impacts of A. hydrophila infection in common carp. © 202

Effect of a diet enriched with sodium propionate on growth performance, antioxidant property, innate-adaptive immune response, and growth-related genes expression in critically endangered beluga sturgeon (Huso huso)

Organic acids are active substances required for improving the productivity and wellbeing of aquatic animals. Herein, the study investigated the effects of sodium propionate on growth performance, antioxidative and immune responses, and growth-related genes expression in beluga sturgeon (Huso huso). For eight weeks, fish fed sodium propionate at 0, 1.2, 2.5, and 5 g kg−1. The final weight, weight gain, and SGR were substantially increased while FCR decreased by dietary sodium propionate at 2.5 and 5 g kg−1 (P &lt; 0.05). The expression of Growth hormone (GH) and insulin-like growth factor 1 (IGF-1) was markedly upregulated (P &lt; 0.05) by dietary sodium propionate in the gills and livers of beluga. The highest mRNA level of GH and IGF-1 has been observed in fish fed a 2.5 g sodium propionate/kg diet. The red blood cells count, and hemoglobin level were meaningfully increased (P &lt; 0.05) by 2.5 and 5 g sodium propionate/kg diet compared with 0 and 1.2 g kg−1 levels. Further, the hematocrit level was increased (P &lt; 0.05) by a dietary 5 g sodium propionate/kg diet. The total protein level and lysozyme activity were meaningfully increased (P &lt; 0.05) by 2.5 and 5 g sodium propionate/kg diet compared with 0 and 1.2 g kg−1 levels. The highest superoxide dismutase was observed in fish fed 2.5 g sodium propionate/kg diet. Catalase activity was significantly higher in fish fed 5 g kg−1 than 1.2 g kg−1. The glutathione peroxidase activity was markedly higher in fish fed 2.5, and 5 g kg−1 than fish fed control diet. The lowest malondialdehyde levels were observed in fish fed 1.2, and 2.5 g sodium propionate/kg diets. Moreover, the highest mucosal total protein, total immunoglobulin and lysozyme were recorded in fish fed 2.5, and 5 g sodium propionate/kg diets. The obtained results indicate that dietary sodium propionate is recommended at 2.5–5 g kg−1 to improve beluga sturgeon's growth performance, feed utilization, and wellbeing. © 2022 Elsevier Lt

A multicenter survey on the trend of chest CT scan utilization: Tracing the first footsteps of COVID-19 in Iran

Background: Chest computed tomography (CT) scan has been used widely to diagnose COVID-19 in Iran. Objectives: To trace the footsteps of COVID-19 in Iran by exploring the trend in using chest CT scans and its economic impact on radiology departments. Methods: In this cross-sectional study, the number of imaging examinations from 33 tertiary radiology departments in 9 large cities of Iran was collected from September 23, 2019 to March 20, 2020 (Months 1 to 6) and the corresponding months in 2018-2019. Results: A 50.2 increase was noted in the chest CT scan utilization in 2019-2020 compared to 2018-2019. This increase was +15, +15, +27, +2, +1 in Months 1-5 of 2019-2020, respectively. In Month 6 of 2019-2020, a 251 increase in the acquisition of chest CT scans was observed compared to the Month 6 of 2018-2019. Following negative balance of revenue from Month 1 to 5 with respect to the inflation rate, the total income in Month 6 was further 1.5 less than the same Month in 2018-19. Conclusion: The observed peak in chest CT utilization in Month 3 prior to the surge in Month 6 could be explained by the seasonal influenza. However, unawareness about an emerging viral disease, i.e. COVID-19, might have underutilized chest CT in Months 4 and 5 before the official announcement in Month 6. The unbalanced increase in the workload of radiology departments in the shortage of cardiothoracic radiologists with the simultaneous decrease in income initiated a vicious cycle that worsened the economic repercussions of the pandemic. © 2020 Academy of Medical Sciences of I.R. Iran. All rights reserved