Bilateral Glaucoma as Possible Additional Feature for PGAP3-Associated Hyperphosphatasia.

Hyperphosphatasia with mental disorder (HPMRS) is a rare autosomal recessive disease caused by gene mutations in enzymes involved in the synthesis and remodeling of lipids. Seven-month-old boy diagnosed with bilateral glaucoma had a cleft palate, facial dysmorphism, hypertelorism, a broad nasal bridge, and large fleshy earlobes. A brain MRI scan also revealed brain abnormalities. The observed phenotype in a seven-month-old boy is in agreement with the phenotypic features of HPRMS type-4. Whole exome sequencing revealed a possible pathogenic variant of PGAP3 in a homozygous state (c.320C > T, p.Ser107Leu) which supported the diagnosis of HPRMS type-4. We report an unusual presentation for HPMRS and suggest adding this syndrome to the list of differential diagnoses of syndromic congenital glaucoma.

Higher education student perceptions regarding the practice of telemental health services in Kingdom of Saudi Arabia.

OBJECTIVES: To study higher education student perceptions regarding the practice of telemental health services in Saudi Arabia. METHODS: The study conducted a cross-sectional descriptive design through an online self-administered survey. The targeted number of responses was set to at least 385 convenience-sample students who were enrolled in different degree programs at the selected university for the Spring 2022 semester. Data collection was done during March 2022. RESULTS: The sample population was 401 eligible responses. Most respondents Most respondents were from Riyadh (39.15%), females (66.33%), single (64.83%) at the time of data collection. Forty-five percent of participants did not use any telemental health services in the past. Moreover, 34.41% of the participants reported that they preferred to use mixed methods of mental services that combined face-to-face and distanced interactions. Telemental services that can be provided based on students' perceptions were consultations (75.81%), followed by education and promotion (64.33%). Almost half of the participants reported that the internet and culture are among the factors that have shaped their perceptions of telemental health in Saudi Arabia, while the least important factor was their experience with providers. CONCLUSION: The current study showed that the higher education students perceived telemental health positively and were willing to use telemental health in the future; in addition, the most essential technologies related to telemental health services were videoconferences, audio-visuals, and telephones.

The Perception of Health Care Practitioners Regarding Telemedicine During COVID-19 in Saudi Arabia: Mixed Methods Study.

BACKGROUND: Telemedicine is a rapidly evolving field that uses information and communication technology to provide remote health care services, such as diagnosis, treatment, consultation, patient monitoring, and medication delivery. With advancements in technology, telemedicine has become increasingly popular during the COVID-19 lockdown and has expanded beyond remote consultations via telephone or video to include comprehensive and reliable services. The integration of telemedicine platforms can enable patients and health care providers to communicate more efficiently and effectively. OBJECTIVE: This study aims to investigate the awareness, knowledge, requirements, and perceptions of health care practitioners in Saudi Arabia during the pandemic health crisis from the end-user perspective. The findings of this study will inform policy makers regarding the sustainability of telemedicine and how it affects the process of provision of health care and improves the patients' journey. METHODS: This study adopted a mixed methods design with a quantitative-based cross-sectional design and qualitative interviews to assess the perceptions of various health care professionals working in outpatient departments that have a telemedicine system that was used during the COVID-19 pandemic. For both approaches, ethics approval was obtained, and informed consent forms were signed. In total, 81 completed questionnaires were used in this study. In the second phase, general interviews were conducted with managerial staff and health care professionals to obtain their view of telemedicine services in their hospitals. RESULTS: The study revealed that most participants (67/81, 83%) were familiar with telemedicine technology, and the study proved to be statistically significant at P<.05 with a proportion of the participants (52/81, 64%) believing that continuous training was essential for its effective use. The study also found that consultations (55/153, 35.9%) and monitoring patients (35/153, 22.9%) were the major components of telemedicine used by health care professionals, with telephones being the most commonly used mode of interaction with patients (74/117, 63.2%). In addition, 54% (44/81) of the respondents expressed concerns about patient privacy and confidentiality, highlighting this as a major issue. Furthermore, the majority of participants (58/81, 72%) reported the necessity of implementing national standards essential for telemedicine technology in Saudi Arabia. The interviews conducted as part of the study revealed 5 major themes: culture, barriers and difficulties, communication, implementation, and evaluation. These themes highlighted the importance of a culture of acceptance and flexibility, effective communication, and ongoing evaluation of telemedicine technologies in health care systems. CONCLUSIONS: This study provides a crucial message with insights into the perceptions and experiences of health care professionals with telemedicine during the COVID-19 pandemic in Saudi Arabia.