RESUMEN
Introduction The use of robotic-assisted surgeries (RAS) has been growing in surgical specialties. It allows surgeons to perform higher-quality operations with fewer complications, mortality, and morbidity. However, there are a lot of misconceptions about RAS among patients. Therefore, our study aimed to assess the knowledge, attitude, awareness, and future expectations of RAS in patients attending surgical clinics. Methods A cross-sectional study was conducted in King Abdulaziz Medical City (KAMC) surgical clinics in Riyadh, Saudi Arabia. All participants <18 years of age were excluded. The questionnaire was distributed to 304 patients attending surgical clinics with a confidence level of 95% and a margin of error of 5%. Cluster sampling was used since the respondents were from multiple surgical specialties. Finally, multivariate analysis was performed to assess participants' preference for robotic surgery. Results Most participants (58.6%, n=178) were between 21 and 40 years old, and males were 52% of the participants. Many respondents thought a robot did not do the surgery. 70.7% of respondents had not heard of robotic surgery, with the media being the most common source of information. Internal damage was the prevalent concern (51.0%, n= 155) in malfunctions of robotic surgery. A significant relationship was found between participants from 21 to 40 years of age and a stronger preference for robotic surgery (p=.027). Respondents who preferred robotic surgery were discovered to have a significant relationship with participants who thought robotic surgery was safer and had better results (p<.001). 13.9% of participants who did not prefer robotic surgery also took cost into account significantly (χ2=28.93, p<.001, Cramer's V=.22). 67.2% (n=43) of respondents who preferred robotic surgery believed it might eventually replace present practices. Conclusion Our study concluded that the majority did not favor or were unsure whether to undergo robotic surgeries or not. However, most participants had some misconceptions and a lack of awareness about robotic surgeries. Raising awareness among patients can improve the mutual decision-making between them and their treating physician.
RESUMEN
Wiedemann-Rautenstrauch Syndrome (WRS; MIM 264090) is an extremely rare and highly heterogeneous syndrome that is inherited in a recessive fashion. The patients have hallmark features such as prenatal and postnatal growth retardation, short stature, a progeroid appearance, hypotonia, facial dysmorphology, hypomyelination leukodystrophy, and mental impairment. Biallelic disease-causing variants in the RNA polymerase III subunit A (POLR3A) have been associated with WRS. Here, we report the first identified cases of WRS syndrome with novel phenotypes in three consanguineous families (two Omani and one Saudi) characterized by biallelic variants in POLR3A. Using whole-exome sequencing, we identified one novel homozygous missense variant (NM_007055: c.2456C>T; p. Pro819Leu) in two Omani families and one novel homozygous variant (c.1895G>T; p Cys632Phe) in Saudi family that segregates with the disease in the POLR3A gene. In silico homology modeling of wild-type and mutated proteins revealed a substantial change in the structure and stability of both proteins, demonstrating a possible effect on function. By identifying the homozygous variants in the exon 14 and 18 of the POLR3A gene, our findings will contribute to a better understanding of the phenotype-genotype relationship and molecular etiology of WRS syndrome.
Asunto(s)
Progeria , Embarazo , Femenino , Humanos , Fenotipo , Progeria/genética , Retardo del Crecimiento Fetal/genética , Mutación Missense , Síndrome , ARN Polimerasa III/genéticaRESUMEN
Background Although syncope is a common emergency in medical settings, no research has yet evaluated the general population's awareness regarding it. This study investigated the general population's knowledge and awareness of syncope and if they could differentiate syncopal and non-syncopal causes of transient loss of consciousness (TLOC). Methodology A cross-sectional study was conducted in Riyadh through a validated, self-administered Arabic questionnaire that was distributed to the general population through social media using Google Forms (convenience sampling). Participants younger than 18 or not from Riyadh were excluded from the study. Two cardiologists validated the questionnaire, following which forward and backward translation was done. The questionnaire contained three sections. The first section included demographic data and chronic conditions. In the second section, participants were asked if they or one of their relatives had ever experienced syncope. The third section had eight scenarios assessing the participants' syncope knowledge. Subjects with ≥five correct answers were considered to be aware. Results The number of total responses was 405 participants. Regarding demographic data, 53% of the participants were female, 33% had a medical background, and 76% had a university degree (n = 214, n = 134, and n = 306, respectively). The mean age of the participants was 33.2 ± 13.3 years. Participants who were aware of syncope represented 55% (n = 221). Among the syncope cases, orthostatic syncope had the highest number of correct answers (79%, n = 319), followed by vasovagal syncope (61%, n = 246). Males performed better in cases one (p = 0.001), two (p = 0.004), and seven (p = 0.01). Conclusions The results of this study showed that most participants were considered aware of syncope. Gender, marital status, and having a medical background had a significant influence on the results.
RESUMEN
INTRODUCTION: Vaso-occlusive crisis (VOC) is one of the main causes of hospital admission in patients with sickle cell disease (SCD). Ketamine is often used as an adjuvant to opioids to control sickle cell crisis; however, there is a lack of evidence about its safety and efficacy for VOC in SCD patients. OBJECTIVE: To synthesize evidence from published reports about the efficacy and safety of ketamine in the management of acute painful VOC in both pediatric and adult SCD patients. METHODS: A systematic literature search of PubMed, Scopus, Web of Science, EBSCO and Cochrane Library was conducted, up to March 2019. Studies reporting the analgesic effects and side effects of ketamine in the management of acute painful VOC in pediatric and adult SCD patients were included. The primary outcome measure was improvement in pain scale, and the secondary outcomes were reduction in opioid utilization and side effects. Studies were narratively summarized in this review. RESULTS: Fourteen studies (with a total of 604 patients) were included in the final analysis. Several case reports and case series showed that ketamine significantly reduced pain scales and opioid utilization in both populations. The only randomized controlled trial available showed that ketamine was noninferior to morphine in reducing pain scores, but had a higher incidence of nonlife-threatening, reversible adverse effects. However, a retrospective study of 33 patients showed a higher pain score in the ketamine group with an acceptable short-term adverse effect. CONCLUSION: Ketamine has a potentially comparable efficacy with other opioids in reducing the pain during VOC in SCD patients. However, it also likely has a higher rate of transient adverse events. Owing to the lack of published randomized controlled trials, current evidence is not sufficient to confirm the safety and efficacy of ketamine. Future well-designed randomized controlled trials are strongly recommended.