METHODS: Whole-exome sequencing (WES) was carried out on a 15-year-old male proband of Pakistani ancestry who had severe obesity. This was followed by family segregation analysis, using Sanger sequencing. We also undertook re-analysis of WES data from 91 unrelated adults with severe obesity (86% white European ancestry) from the Personalised Medicine for Morbid Obesity (PMMO) cohort, recruited from the UK National Health Service.
RESULTS: We identified an oligogenic mode of inheritance of obesity in the proband's family-this provided the impetus to reanalyze existing sequence data in a separate dataset. Analysis of PMMO participant data revealed two further patients who carried more than one rare, predicted-deleterious mutation in a known monogenic obesity gene. In all three cases, the genes involved had known autosomal dominant inheritance, with incomplete penetrance.
CONCLUSION: Oligogenic inheritance may explain some of the variable penetrance in Mendelian forms of obesity. We caution clinicians and researchers to avoid confining sequence analysis to individual genes and, in particular, not to stop looking when the first potentially-causative mutation is found.
METHODS: A cross sectional survey was conducted among staff from a tertiary education centre. Subjects were contacted to ascertain their medical history. A total of 320 subjects were interviewed and 195 subjects were eligible and subsequently recruited on a suitable date for taking blood and administration of the questionnaires. The subjects completed questionnaires pertaining to demographic details and coping styles. Pearson's correlation coefficient was used to measure the strength of association between lipid profile and coping styles.
RESULTS: Majority of the subjects were non-academic staff (60.0%), female (67.2%), Malay (91.8%), married (52.3%) and educated until Diploma level (34.9%). Academic staff scored significantly higher mean scores in task-oriented coping styles (Mean = 64.12). Non-academic staff scored significantly higher mean scores in emotion (Mean = 48.05) and avoidance-oriented coping styles (Mean = 57.61). Malay subjects had significantly higher mean scores in emotion (Mean = 47.14) and avoidance-oriented coping styles (Mean = 55.23). Non-malay subjects (Mean = 66.00) attained significantly higher mean scores in task-oriented coping styles. Single/divorced/widowed individuals scored significantly higher mean scores in emotion (Mean = 48.13) and avoidance-oriented coping styles (Mean = 56.86). There was a significant negative correlation between TC (r = -0.162) and LDL (r = -0.168) with avoidance-oriented coping styles (p = 0.023, p = 0.019 respectively).
CONCLUSION: Avoidance-oriented coping style was more likely to engender favourable lipid profile. Hence, assessment of coping styles would certainly assist health care practitioners in predicting subjects who would be at a greater risk of developing cardiovascular diseases.
MATERIAL AND METHODS: During the COVID-19 pandemic, an online questionnaire gathered data from 55,589 participants from 40 countries (64.85% females aged 35.80 ± 13.61; 34.05% males aged 34.90±13.29 and 1.10% other aged 31.64±13.15). Distress and probable depression were identified with the use of a previously developed cut-off and algorithm respectively.
STATISTICAL ANALYSIS: Descriptive statistics were calculated. Chi-square tests, multiple forward stepwise linear regression analyses and Factorial Analysis of Variance (ANOVA) tested relations among variables.
RESULTS: Probable depression was detected in 17.80% and distress in 16.71%. A significant percentage reported a deterioration in mental state, family dynamics and everyday lifestyle. Persons with a history of mental disorders had higher rates of current depression (31.82% vs. 13.07%). At least half of participants were accepting (at least to a moderate degree) a non-bizarre conspiracy. The highest Relative Risk (RR) to develop depression was associated with history of Bipolar disorder and self-harm/attempts (RR = 5.88). Suicidality was not increased in persons without a history of any mental disorder. Based on these results a model was developed.
CONCLUSIONS: The final model revealed multiple vulnerabilities and an interplay leading from simple anxiety to probable depression and suicidality through distress. This could be of practical utility since many of these factors are modifiable. Future research and interventions should specifically focus on them.
METHODS: Chi-square tests were used for initial screening to select only those variables which would show an initial significance. Risk Ratios (RR) were calculated, and a Multiple Backward Stepwise Linear Regression Analysis (MBSLRA) was followed with those variables given significant results at screening and with the presence of distress or depression or the lack of both of them.
RESULTS: The most important risk factors for depression were female (RR = 1.59-5.49) and non-binary gender (RR = 1.56-7.41), unemployment (RR = 1.41-6.57), not working during lockdowns (RR = 1.43-5.79), bad general health (RR = 2.74-9.98), chronic somatic disorder (RR = 1.22-5.57), history of mental disorders (depression RR = 2.31-9.47; suicide attempt RR = 2.33-9.75; psychosis RR = 2.14-10.08; Bipolar disorder RR = 2.75-12.86), smoking status (RR = 1.15-5.31) and substance use (RR = 1.77-8.01). The risk factors for distress or depression that survived MBSLRA were younger age, being widowed, living alone, bad general health, being a carer, chronic somatic disorder, not working during lockdowns, being single, self-reported history of depression, bipolar disorder, self-harm, suicide attempts and of other mental disorders, smoking, alcohol, and substance use.
CONCLUSIONS: Targeted preventive interventions are crucial to safeguard the mental health of vulnerable groups, emphasizing the importance of diverse samples in future research.
LIMITATIONS: Online data collection may have resulted in the underrepresentation of certain population groups.
OBJECTIVE: This study investigated whether the inclusion of video games in the upper limb amputee rehabilitation protocol could have a beneficial impact for muscle preparation, coordination, and patient motivation among individuals who have undergone transradial upper limb amputation.
METHODS: Ten participants, including five amputee participants and five able-bodied participants, were enrolled in 10 1-hour sessions within a 4-week rehabilitation program. In order to investigate the effects of the rehabilitation protocol used in this study, virtual reality box and block tests and electromyography (EMG) assessments were performed. Maximum voluntary contraction was measured before, immediately after, and 2 days after interacting with four different EMG-controlled video games. Participant motivation was assessed with the Intrinsic Motivation Inventory (IMI) questionnaire and user evaluation survey.
RESULTS: Survey analysis showed that muscle strength and coordination increased at the end of training for all the participants. The results of Pearson correlation analysis indicated that there was a significant positive association between the training period and the box and block test score (r8=0.95, P