A novel variant in DOCK6 gene associated with Adams–Oliver syndrome type 2

Background: Adams–Oliver syndrome (AOS) is a rare, inherited multi-systemic malformation syndrome characterized by a combination of aplasia cutis congenita and transverse terminal limb defects along with variable involvement of the central nervous system, eyes, and cardiovascular system. AOS can be inherited as both autosomal-dominant and recessive traits. Pathogenic variants in the DOCK6, ARHGAP31, EOGT, RBPJ, DLL4, and NOTCH1 genes have been associated with AOS. Purpose: To report a novel homozygous variant in the DOCK6 gene associated with Adams–Oliver syndrome type 2. Materials and methods: Case report. Results: We report a case of a 4-month-old male who presented with microcephaly, global developmental delay, truncal hypotonia, and limb reduction defects. Ophthalmic examination revealed bilateral nystagmus and retinal detachment with mild cataractous changes in addition to retrolental plaque in the left eye. Next generation sequencing analysis identified a novel homozygous frameshift likely pathogenic variant (c.1269_1285dup (p.Arg429Glnfs*32)) in the DOCK6 gene. The constellation of the clinical findings and the genetic mutation were consistent with a diagnosis of AOS type 2. Conclusion: The discovery of this new likely pathogenic variant enriches the genotypic spectrum of DOCK6 gene and contributes to genetic diagnosis and counseling of families with AOS. Neurologic and ocular findings appear to be consistent with AOS type 2 for which multidisciplinary clinical evaluation is crucial

Effectiveness of a Dental Students Stress Management Program

The dental education stress effects and sources were explored thoroughly in the literature, but the effectiveness of stress management programs received less attention. This study introduced a new stress management program, named Dental Education Stress Management (DESM) program. It showed its effectiveness in a quasi-experimental pretest-posttest-follow-up-control group design. The new program was based on the principle of psychoeducation and consisted of three 90-min sessions, to teach dental students how to better deal with their stress symptoms and to reduce their general stress level. Two instruments were used to assess the level of stress of the dental students, namely the Dental Environment Stress questionnaire (DES), and the Psychological Stress Measure (PSM-9). Results show that the DESM program has the desired effect of decreasing the stress levels of its participants, and these effects lasted for at least two weeks. Because of several methodological limitations of the study more research is needed to draw more generalizable conclusions

Quality of Life and Stress Level Among Health Professions Students

Purpose: Numerous studies have shown that students of health professions report higher perceived stress and lower quality of life (QOL) levels than those in other disciplines. The purpose of this cross-sectional survey study is to assess variations in students’ QOL and perceived stress levels by demographic and college-related factors. Methods: The World Health Organization QOL (WHOQOL) – BREF and Perceived Stress Scale (PSS-14) were used to assess QOL and stress levels among students at King Saud Bin Abdul-Aziz University for Health Sciences (KSAU-HS), Riyadh, during December 2015–June 2016. The WHOQOL-BREF comprises four broad QOL domains: physical health, psychological health, social relationships and environment. A total score from responses to the 14 questions in the PSS was computed. Univariate statistical analyses were performed using the Chi-square/Fisher's exact test or the t-test/Mann-Whitney U test, as appropriate. Linear regression models were used to examine the independent effect of numerous demographic and college-related factors on QOL and PSS. Results: A total of 479 students completed the questionnaire, representing a response rate of 95%. Fifty nine percent of the respondents were females. Then vast majority of respondents were single (96%) and reported a household income of SAR 10,000 or higher (82%). The distribution of college enrollment was as follows: Medicine 37%, Applied Medical Sciences 18%, Nursing 16%, Dentistry 13% and Pharmacy 14%. Scores in a number of QOL domains were significantly different by gender, household income, college, academic level and smoking status. Scores in all four QOL domains were negatively correlated with PSS, indicating that better QOL is strongly and highly significantly related to lower perceived stress levels with correlations ranging from −0.27 to −0.58 (p < 0.001). PSS scores were independently and significantly associated with QOL scores in the physical and psychological health domains. Conclusions: Most students that participated in this study appeared to acknowledge challenges in various aspects of their QOL which have been shown to be associated with their perceived stress. Further studies are needed to evaluate the effect of implementing educational and counseling programs to improve QOL and reduce stress levels among health sciences students

Stress and its association with academic performance among dental undergraduate students in Fujian, China: a cross-sectional online questionnaire survey

Background: The aim of this study was to investigate the amount and sources of stress in dental undergraduate students in Fujian, China, and the factors associated with stress. Methods: This cross-sectional study was conducted during the second semester of the 2017-2018 academic year at the School of Stomatology, Fujian Medical University, China. A total of 396 students were surveyed with the Dental Environment Stress Questionnaire (DES) and the Perceived Stress Scale (PSS) using an online survey system. The participants\u27 demographic information, including sex, age, year of study, and grade point average (GPA) was also collected. One-way analysis of variance (ANOVA) was performed to compare the stress scores. Pearson correlation and multiple linear regression analyses were conducted to explore the associated factors of stress and academic performance. All statistical analyses were performed at a significance level of 5%. Results: A total of 347 undergraduate students participated in the present study, for a response rate of 87.6%. There were no significant differences in the DES and PSS total scores among students of different grades and sexes. Significant differences were found in the DES "workload" and "self-efficacy beliefs" scores among students from different study years (all P < 0.05). The Multiple linear regression showed that DES and PSS scores were negatively correlated with GPA, while sex was positively correlated with GPA (all P < 0.05). Female students had significantly higher GPAs than male students. Conclusions: Dental undergraduates in Fujian, China experienced moderate levels of stress. While the amount of stress did not differ by year of study, the sources of stress did differ. Stress scores and sex were negatively correlated with academic performance