RESUMO
Glucose transporter type 1 (Glut1) is the main transporter involved in the cellular uptake of glucose into many tissues, and is highly expressed in the brain and in erythrocytes. Glut1 deficiency syndrome is caused mainly by mutations of the SLC2A1 gene, impairing passive glucose transport across the blood-brain barrier. All age groups, from infants to adults, may be affected, with age-specific symptoms. In its classic form, the syndrome presents as an early-onset drug-resistant metabolic epileptic encephalopathy with a complex movement disorder and developmental delay. In later-onset forms, complex motor disorder predominates, with dystonia, ataxia, chorea or spasticity, often triggered by fasting. Diagnosis is confirmed by hypoglycorrhachia (below 45 mg/dL) with normal blood glucose, 18F-fluorodeoxyglucose positron emission tomography, and genetic analysis showing pathogenic SLC2A1 variants. There are also ongoing positive studies on erythrocytes' Glut1 surface expression using flow cytometry. The standard treatment still consists of ketogenic therapies supplying ketones as alternative brain fuel. Anaplerotic substances may provide alternative energy sources. Understanding the complex interactions of Glut1 with other tissues, its signaling function for brain angiogenesis and gliosis, and the complex regulation of glucose transportation, including compensatory mechanisms in different tissues, will hopefully advance therapy. Ongoing research for future interventions is focusing on small molecules to restore Glut1, metabolic stimulation, and SLC2A1 transfer strategies. Newborn screening, early identification and treatment could minimize the neurodevelopmental disease consequences. Furthermore, understanding Glut1 relative deficiency or inhibition in inflammation, neurodegenerative disorders, and viral infections including COVID-19 and other settings could provide clues for future therapeutic approaches.
RESUMO
INTRODUCTION: Telemedicine has emerged as a critical technology to mitigate SARS-CoV-2 infection. We aim in this work to explore how general practitioners (GPs) perceived the use of telemedicine, recently recognized and reimbursed by the Public Health Insurance House (PHIH) for primary care (PC) provision. METHODS: A cross-sectional study was performed in 2020 in one county of Romania using an anonymous questionnaire that assessed physicians' perceptions regarding teleconsultation, reliability in tele-decision, remote pathology management, pregnant women's surveillance, patients' satisfaction with telemedicine, the need for its further reimbursement. Bivariate correlation was used to measure associations between the investigated issues. RESULTS: More than a quarter of GPs (28.6%) found it easier to address patients' healthcare needs remotely, while 60.7% considered time-consuming teleconsultations compared to face-to-face visits. Tele-diagnostic uncertainty was expressed by 64.3% of physicians, and a quarter were confident in tele-decisions. Almost half of GPs (43%) observed patients' satisfaction with tele-visits, while half said patients encountered difficulties using technology. A large percentage of doctors (62.5%) perceived that patients felt as well treated by virtual as in-person visit and 91.1% suggested post-pandemic reimbursement. The results of the bivariate correlation showed that physicians who perceived positive patient feedback on telemedicine were more supportive of subsequent reimbursement. CONCLUSION: This study showed the GPs' positive perception of the use of telemedicine. Its adoption in PC has shed light on the shadows of the pandemic. The time-consuming nature of teleconsultations, uncertainty in tele-decisions, patients' difficulties in using technology were seen as shadows of telecare. However, most of the GPs surveyed agreed with the need for further reimbursement. Future work should focus on innovative solutions for integrating telemedicine as complementary form of PC, the need for telemedicine-based training for GPs to improve capacity building, and patients' perceptions of virtual care, helping to build trust and satisfaction.