Presentation and Management of Acute Mania in Fanconi-Bickel Syndrome, A Metabolic Genetic Disorder.

Fanconi-Bickel syndrome (FBS) is a rare metabolic disorder caused by decreased glucose transporter 2 (GLUT2) function due to several known mutations in the SLC2A2 gene. As of 2020, 144 cases of FBS have been described in the literature. Metabolic and somatic sequelae include dysglycemia and accumulation of glycogen in the kidney and liver. However, there are no descriptions in the literature of possible neuropsychiatric manifestations of FBS. This case report is to our knowledge the first in this regard, describing a patient with FBS who was admitted to our psychiatric inpatient unit while experiencing acute mania. We conceptualize the case as a novel psychiatric presentation of acute mania in FBS, which may inform our understanding of bipolar disorder pathophysiology because of the hypothesized functional changes in neural pathways involving the paraventricular thalamus induced by decreased GLUT2 activity in FBS.

Ability and willingness to utilize telemedicine among rheumatology patients-a cross-sectional survey.

INTRODUCTION/OBJECTIVES: This study aims to assess the patients' ability and willingness to utilize telemedicine (TM) along with identifying some of the barriers to a more widespread adoption of TM in rheumatology. METHODS: An observational, cross-sectional study of patients visiting a rheumatology clinic was conducted in 2018. We used a survey to assess patients' attitude on the perceived effectiveness when comparing TM versus in-person visits, as well as patients' access to technology, distance traveled by the patient to attend the clinic visit, and demographic parameters. RESULTS: A total of 214 patients were included. Negative correlations were found between the increase in age and access to technologies (front-facing camera (mean age difference - 12.8), telephone (mean age difference - 14.4), and stable internet connection (mean age difference - 15.1)), as well as believing that their needs could be met through TM (r - .224, p < 0.001) and thinking that TM could be an appropriate alternative method of healthcare (r - .298, p < 0.001). Younger patients reported more conflict between appointments and work hours (mean age difference - 11.73). Follow-up patients were more likely to feel that their visit could have been possible over the phone (mean difference - 1.13) or video conferencing (mean difference - 1.13) compared to new patients. Older patients were less likely to think that the purpose of their rheumatology visits could be achieved over the phone (r - .207, p = 0.003) or video conferencing (r - .331, p = 0.001). The further the distance traveled, the more the patients were willing to utilize TM compared to in-person visits (r 0.167, p = 0.019). CONCLUSION: Out of necessity due to the COVID-19 pandemic, rheumatology clinics are increasingly turning to TM. The results of this study suggest that access and familiarity with technology may still be limited in certain demographics, particularly the elderly. Furthermore, this study helps to understand some of the additional barriers to more widespread adoption and patients' perceived limitations of TM. Key Points • This study aimed to assess rheumatology patients' willingness to utilize telemedicine (TM) while determining the factors and barriers that may exist for a more widespread adoption of TM, using a cross-sectional survey in the setting of a rheumatologic clinic. • The age of the patient was the most significant contributing factor in a patient's perception of TM, with older patients being less likely to think that the purpose of their rheumatology visits could be achieved over the phone or via videoconferencing. • The social trend of limited access to technology among the elderly population was reinforced by the results in this study. • Patients who had a greater commute to the clinic were more likely to willing to utilize TM consultations. • The results of this study highlight the elevated difficulty elderly patient populations have in utilizing TM. • With the current outbreak of COVID-19, the importance of utilizing TM specifically among the elderly population could prove vital. Future studies to focus on the elderly population and methods for helping these patients become familiar with TM would be beneficial. • Studies such as this can help to orchestrate future guidelines for TM in the field of rheumatology. Based on our study results, the new-patient encounter should be an in-person face-to-face encounter whenever possible, followed by TM visits for established patients who are able and open to using it, depending on the diagnosis and symptoms of the individual patients.

Awareness and Attitudes Towards Telemedicine Among Medical Students in the United States.

INTRODUCTION:  Telemedicine (TM) or telehealth is defined as the delivery of healthcare services at a distance using electronic means. It is a rapidly growing field of medicine that uses telecommunication to provide healthcare services to patients such as the elderly and those in rural locations who may otherwise be unable to make it to the hospital or physician's office. With the rise in the popularity of TM, educating future physicians on this technology will become vital. This study aimed to explore medical students' experiences and opinions regarding TM. METHODS:  An online survey was sent to 287 medical students in 20 different allopathic medical schools in the United States. The survey consisted of 14 questions that included demographic information, information regarding TM exposure, interest in TM, and plans for future utilization. RESULTS:  The result of this study indicated that only 17.4% of medical students had prior exposure to TM. However, the increased exposure to TM helped not only to increase awareness of the technology but also helped students form opinions on TM. Lastly, students in all intended specialties had interests in utilizing TM in the future with specialties such as pathology, psychiatry, ophthalmology, and dermatology indicating the highest levels of interest. CONCLUSION:  As medicine continues to incorporate technology into the care of patients, training institutions need to expose future physicians to the modalities of care they will be utilizing. The results of this survey suggest that the development of education and exposure to TM will become increasingly important as more medical students indicate interest in utilizing this technology.