Implementation and Monitoring of a Telemedicine Model in Acromegalic Outpatients in a Low-Income Country During the COVID-19 Pandemic.

Background: Telemedicine is a resource to provide health care to patients social distancing and prevent their exposure to the risk of contamination by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in medical-hospital settings. This study evaluated a virtual model of care in acromegalic patients. Methods: We recruited 78 acromegalic patients, 65% female, median age 63 years. Outpatient management was remodeled to simplify access to care by (1) adoption of virtual meetings; (2) collection of blood samples at home; (3) abolishment of printed prescription and provision of electronic files directly to central pharmacy; and (4) drugs delivered to patients' home. Patients and physicians filled electronic surveys 48 h after each consultation. Results: The patients expressed satisfaction with convenience (91.1%), decreased wait time (85.1%), and saving money (79.2%) compared to face-to-face visits. Most patients felt supported by the medical team (89.1%) and kept the prescriptions updated (84.8%). The physicians reported resolutive appointments in 92.2% of cases, despite longer time to reach the patients and subsequent calls to complement missing information. Satisfaction and patient-provider relationship were maintained during the study, but the choice for virtual appointment for the next appointment fell from 78.7% to 34.8% after 6 months. Coronavirus disease 2019 (COVID-19) was confirmed in 13% of patients, mostly mild and moderate manifestations. Conclusion: Telemedicine is a tool for medical care in underserved populations, feasible even in low-income countries. This study suggests that it is difficult to sustain exclusive remote care for more than 6 months. The method could be adopted interchangeably with in-person consultations in acromegalic patients with stable disease.

Molecular detection of XO - Turner syndrome

Turner syndrome is caused by haploinsufficiency of the short arm of X-chromosome, and is usually diagnosed by karyotyping. This procedure is time-consuming, expensive and unfeasible for population screening. We propose molecular detection of 45XO Turner patients based on the ability of HpaII, a methylation sensitive endonuclease, to induce the cleavage of non-methylated DNA in the active X-allele. Genomic DNA was obtained from 22 patients with Turner syndrome confirmed by karyotype (45XO, N = 18; 45XO/46XX, N = 4). After digestion, DNA was amplified with primers directed to exon 1 of the androgen receptor (AR) gene and to the GAPDH control gene. Normal control females or mosaic patients, with a second methylated X-chromosome, escaped from HpaII digestion and produced a band corresponding to AR gene amplification. 45XO patients have just one active non-methylated X-chromosome, completely digested by HpaII, thus preventing the amplification of the AR gene. Three of the 45XO cases gave amplified bands, suggesting low-frequency mosaicisms that are not detected by karyotyping. Compared to classical karyotype studies for the detection of 45XO Turner patients, this new molecular method is simpler, faster and less expensive.

Molecular detection of XO - Turner syndrome.

Turner syndrome is caused by haploinsufficiency of the short arm of X-chromosome, and is usually diagnosed by karyotyping. This procedure is time-consuming, expensive and unfeasible for population screening. We propose molecular detection of 45XO Turner patients based on the ability of HpaII, a methylation sensitive endonuclease, to induce the cleavage of non-methylated DNA in the active X-allele. Genomic DNA was obtained from 22 patients with Turner syndrome confirmed by karyotype (45XO, N = 18; 45XO/46XX, N = 4). After digestion, DNA was amplified with primers directed to exon 1 of the androgen receptor (AR) gene and to the GAPDH control gene. Normal control females or mosaic patients, with a second methylated X-chromosome, escaped from HpaII digestion and produced a band corresponding to AR gene amplification. 45XO patients have just one active non-methylated X-chromosome, completely digested by HpaII, thus preventing the amplification of the AR gene. Three of the 45XO cases gave amplified bands, suggesting low-frequency mosaicisms that are not detected by karyotyping. Compared to classical karyotype studies for the detection of 45XO Turner patients, this new molecular method is simpler, faster and less expensive.