Features and behavior of valvular abnormalities in adolescent and adult patients in mucopolysaccharidosis: an echocardiographic study.

Mucopolysaccharidoses, a rare inherited disorder of lysosomal storage, account for less than 0.1% of all genetic diseases.  The penetrance is highly variable and clinically it varies from severe fetal-neonatal forms to attenuated diseases diagnosed in adult individuals. The majority of the patients have been reported to show cardiac abnormalities since pediatric age, however, there is a minority of patients with attenuated disease diagnosed in the adolescent and adult age. The haematopoietic stem cell transplantation and enzyme replacement therapy are the current therapies for these disorders. Thanks to these treatments, Mucopolysaccharidoses patients live longer than in the past. Even though enzyme replacement therapy has been demonstrated to reduce left ventricular mass in patients with cardiomyopathy, the efficacy on valve abnormalities has not been clearly demonstrate yet. Furthermore, thanks to the current therapy, to better understanding and to the advent on new technologies, an increasing number of adolescent and adult patients diagnosed with MPS are followed up in the adult echocardiographic laboratory. Indeed, a systematic descriptive study describing the echocardiographic features of valvular involvement and their evolution in adolescent and adult patients lacks of medical literature and this was the aim of our investigation. Our results showed that all the valves are affected, mainly the mitral valve with a higher prevalence compared to the pediatric age.  The echocardiographic features of MPS differs from other valvular disease of adolescent and adult age, and knowing them can avoid misdiagnosis. Our observations also suggest that the progression of cardiac involvement slows after the initiation of the therapy in our group of age. Further studies on larger population are required to confirm our results.

Burnout, Depression, and Anxiety Levels among Healthcare Workers Serving Children with Autism Spectrum Disorder.

Burnout in healthcare workers (HCWs) is defined as a state of emotional, physical, and mental exhaustion that results from unmanaged, excessive, and long-term workplace stressors. This study aims to assess the prevalence of burnout and the levels of anxiety and depression among HCWs who primarily work with children who have autism spectrum disorder (ASD). A quantitative cross-sectional survey was conducted utilizing the Arabic version of the Maslach Burnout Inventory (MBI), Areas of Worklife Survey (AWS), Patient Health Questionnaire for Generalized Anxiety Disorder (GAD-7), and Patient Health Questionnaire for Depression (PHQ-9). Among the 381 participants working in autism centers, the majority were young Saudi females (326) working full-time as specialists in the private sector with less than five years of experience. The HCWs' overall mean scores on the three Maslach Burnout Inventory (MBI) subscales: emotional exhaustion (EE), depersonalization (DP), and personal accomplishment (PA) were 62%, 23.7%, and 76.5%, respectively. A total of 51.4% of HCWs reported moderate to high anxiety levels on GAD-7, and 47.8% showed moderate to very high levels of depression on PHQ-9. The mean perceived EE converged significantly but negatively on their overall mean perceived satisfaction with AWS (p-value < 0.001), demonstrating that greater emotional fatigue predicts less satisfaction with their work. The PA scores correlated significantly and positively with their overall mean satisfaction with their AWS score (p-value < 0.001). Considering sociodemographic variables, HCWs aged between 20-29 years have significantly lower mean PA scores than HCWs aged thirty and older (p = 0.007). Also, male HCWs perceived significantly higher work-related DP than females. More research is required to determine the nature of variables that contribute to burnout, depression, and anxiety in HCWs helping children with ASD.

Waist-to-Height Ratio (WHtR) in Predicting Coronary Artery Disease Compared to Body Mass Index and Waist Circumference in a Single Center from Saudi Arabia.

This study aims to study the efficiency of the Waist-to-Height Ratio (WHtR) for determining coronary artery disease. It compares the frequency of abnormal WHtR, as a proxy for abdominal obesity, to that of body mass index (BMI) and waist circumference (WC). It also relates the findings to other cardiometabolic risk factors in University Hospital patients. A cross-sectional study design was used, where a sample of 200 patients (142 males and 58 females) who attended the adult cardiac clinic were purposively included. BMI, WC, and WHtR were measured, where frequencies of WHtR were compared to those of BMI and WC. The findings were related to the history of coronary artery disease (CAD) and history of cardiometabolic risk factors, including diabetes mellitus (DM), hypertension (HTN), and hyperlipidemia. Majority of the male patients were older, taller, and had a lower BMI value. It also showed that the prevalence of dyslipidemia and CAD was higher in male patients. No significant difference between both genders was noticed for weight, WC, WHtR, hypertension, or DM. BMI was least associated with high-risk cardiac population in both males and females (39.4% and 60.3%), followed by WC (84.5% and 96.6%, respectively). WHtR showed the highest association with gender (male 98.6% and females 98.3%). These findings were noticed in patients with all risk factors. WHtR is superior to BMI and WC for determining the elevated risk of diabetes, hypertension, dyslipidemia, and CAD in a single university institute. The role of WHtR in both normal and diseased Saudi population should be delineated.