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Congenital disorder of glycosylation type II: Case report

Congenital disorder of glycosylation (CDG) is an inherited metabolic disease characterized by defects in the synthesis of glycan groups of glycoproteins and glycolipids.

In this study, we present the clinical, pathological and physical evaluation of a 10-year-old female patient who is still alive and has been diagnosed with CDG type 2, accompanied by musculoskeletal, heart, liver, lung involvement, vision and hearing problems, dysmorphic facial findings, as well as the affected central nerve system. 

The necessary measures were taken considering all possibilities and the fact that she did not have a clear diagnosis at a very early age and was diagnosed after a comprehensive evaluation. In particular, the physical treatment process, which started at a very early age, substantially prevented the delayed musculoskeletal, respiratory and circulatory problems by extending over a period of time. In this context, we think that our case is rare in the literature. 

 

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Non-operating room anesthesia in children undergoing interventional cardiac procedures

Aim: With advances in medical technology in the last decades, diagnostic and therapeutic interventional procedures are increasingly being applied in the pediatric population. Those procedures are frequently performed under non-operating room anesthesia. The aim of this study was to report our non-operating room anesthesia experience of interventional cardiac procedures in the pediatric population. 

Material and Methods: Retrospective analysis of 156 patients who underwent interventional cardiac procedure under non-operating room anesthesia was conducted. 

Results: All procedures were performed under general anesthesia using an endotracheal tube (85.9%) or laryngeal mask (14.1%). The two airway instruments were similar in complication, total hospitalization time, and need for a pediatric intensive care unit. There were no differences in complication, total hospitalization time, and need for a pediatric intensive care unit between the patients who were administered neuromuscular relaxant and those without neuromuscular relaxant. Among the patients who were administered neuromuscular relaxant, there were no differences in complication, total hospitalization time, and need for a pediatric intensive care unit between patients receiving sugammadex and those not using a neuromuscular blockage antagonist. 

Discussion: The laryngeal mask can be used as safely as an endotracheal tube in pediatric interventional cardiac procedures under non-operating room anesthesia. Propofol plus remifentanil with or without rocuronium is a suitable combination for induction of anesthesia. Sugammadex is a reliable option in reversing the neuromuscular blockage.

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The effect of social isolation on psychological stress and gambling in the COVID-19 pandemic

Aim: In our study, it was aimed to investigate the effects of social isolation and social distance measures taken during the COVID-19 pandemic process on psychological stress and gambling habits. 

Materials and Methods: Two hundred and three people who were contacted via e-mail after creating an online questionnaire were included in the study. A structured online questionnaire including a sociodemographic information form, the South Oaks Gambling Screening Test (SOKK), Kessler Psychological Distress Scale (K10-PDS) and Depression Anxiety Stress Scale (DASS-21) was applied to all participants by the researchers. 

Results: The average age of the 203 participants who were included in the study was found to be 37.64 (± 6.70), 62.1% were men and 37.9% were women. The overall SOKK score was 1.05 (± 2.03), the total K10-PSS score was 21.96 (± 10.51), the mean DASS-D, DASS-A, DASS-S scores were 3.49 (± 3.41), 1.99 (± 2.26), 4.04 (± 3.44), respectively. No statistically significant correlation was found between the total SOKK score and the DASS-A, DASS-S, DASS-D and K10-PSS scores.  For men compared to women, for those who buy digital money (Bitcoin, Litecoin, Ripple, etc.) compared to those who do not gamble at least once in their lifetime, and those who have not gambled at least 1 time in the last month, the total SOKK score was statistically significantly higher (p<0.001, p<0.01, p<0.001 and p<0.01, respectively). The SOKK total score was found to be statistically significantly higher in men than women who gambled at least once in their lifetime, and those who did not apply to psychiatry before (p<0.001 and p<0.05, respectively). 

Discussion: In this study, it has been shown that social isolation measures taken during the pandemic process can increase psychological distress in people. Besides this, gambling behavior may increase, especially in men, in persons who have bought digital money before and those who have gambled at least once in their life.

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