ABSTRACT
Background: There is a lack of information on the clinical and molecular presentation of familial partial lipodystrophy (FPLD), a rare genetic disorder characterized by partial subcutaneous fat loss. Objective: This study aimed to provide a comprehensive assessment of the clinical, metabolic, and genetic features of FPLD in the Brazilian population. Methods: In a multicenter cross-sectional investigation we evaluated patients with FPLD across five Brazilian reference centers for lipodystrophies. Diagnosis of FPLD was made by clinical evaluation and genetic confirmation. Data on genetic, clinical, and metabolic characteristics were captured. Statistical analysis involved the utilization of the Kruskal-Wallis test to identify differences. Results: The study included 106 patients with genetic confirmation of FPLD. The mean age was 44 ± 15 years, and they were predominantly female (78.3%). LMNA pathogenic variants were identified in 85.8% of patients, PPARG in 10.4%, PLIN1 in 2.8%, and MFN2 in 0.9%. Diabetes mellitus (DM) was highly prevalent (57.5%), affecting 54 females (50.9%). Median triglycerides levels were 199 mg/dL (54-2724 mg/dL), severe hypertriglyceridemia (≥ 500 mg/dL) was found in 34.9% and pancreatitis in 8.5%. Metabolic-associated fatty liver disease (MAFLD) was observed in 56.6%, and cardiovascular disease in 10.4%. The overall mortality rate was 3.8%, due to cardiovascular events. Conclusion: This study presents an extensive cohort of Brazilian patients with FPLD, predominantly DM with several multisystem complications. A comprehensive characterization of lipodystrophy syndromes is crucial for effective patient management and care.
Subject(s)
Lipodystrophy, Familial Partial , Humans , Female , Male , Lipodystrophy, Familial Partial/genetics , Lipodystrophy, Familial Partial/epidemiology , Adult , Cross-Sectional Studies , Middle Aged , Brazil/epidemiology , Morbidity , Lamin Type A/geneticsABSTRACT
The current outbreak of COVID-19 cases worldwide has been responsible for a significant number of deaths, especially in hospitalized patients suffering from comorbidities, such as obesity, diabetes, hypertension. The disease not only has prompted an interest in the pathophysiology, but also it has propelled a massive race to find new anti-SARS-CoV-2 drugs. In this scenario, known drugs commonly used to treat other diseases have been suggested as alternative or complementary therapeutics. Herein we propose the use of sitagliptin, an inhibitor of dipeptidyl peptidase-4 (DPP4) used to treat type-II diabetes, as an agent to block and inhibit the activity of two proteases, 3CLpro and PLpro, related to the processing of SARS-CoV-2 structural proteins. Inhibition of these proteases may possibly reduce the viral load and infection on the host by hampering the synthesis of new viruses, thus promoting a better outcome. In silico assays consisting in the modeling of the ligand sitagliptin and evaluation of its capacity to interact with 3CLpro and PLpro through the prediction of the ligand bioactivity, molecular docking, overlapping of crystal structures, and molecular dynamic simulations were conducted. The experiments indicate that sitagliptin can interact and bind to both targets. However, this interaction seems to be stronger and more stable to 3CLpro (ΔG = -7.8 kcal mol-1), when compared to PLpro (ΔG = -7.5 kcal mol-1). This study suggests that sitagliptin may be suitable to treat COVID-19 patients, beyond its common use as an anti-diabetic medication. In vivo studies may further support this hypothesis. Supplementary Information: The online version contains supplementary material available at 10.1007/s13205-022-03406-w.
ABSTRACT
Objetivos: Esta pesquisa teve o intuito de avaliar o uso das tecnologias de informação e comunicação (TIC) por profissionais de saúde do interior do Ceará. Materiais e Métodos: Estudo transversal, no qual foram aplicados questionários para profissionais de nível superior da Estratégia de Saúde da Família de quatro municípios cearenses vinculados a uma universidade privada pelo internato rural. Resultados: Uma amostra de 72 enfermeiros, dentistas e médicos responderam o formulário. A maioria dos profissionais utilizam diferentes recursos tecnológicos para uso pessoal e para atividades profissionais. O telefone celular é a forma mais comum de TIC utilizada na prática profissional (61%). O uso recreacional da Internet (96%) é maior do que como parte da prática clínica diária (37%), assim como o e-mail (90% versus 38%). Apenas alguns (17%) têm acesso à Internet no local de trabalho e a maioria (60%) precisa viajar pelo menos 30 minutos para ter acesso à Internet. Daqueles que têm acesso à Internet no local de trabalho, 91% utilizam para atividades de autoaprendizagem ou de ensino. Conclusão: Nossos dados apoiam a ideia de que somente o acesso aos recursos tecnológicos não é suficiente. Os dispositivos móveis parecem, no momento, oferecer vantagem de acessibilidade para este grupo.
Aims: This study aimed to evaluate the use of information and communication technologies (ICT) for health professionals. Materials and Methods: It was a cross-sectional study in which questionnaires were applied to health professionals of Family Health Strategy of four municipalities of Ceará linked to a private university by rural internship. Results: A sample of 72 nurses, dentists and doctors answered the form. Most professionals use different technological resources for personal and professional activities. The mobile phone is the most common form of ICT used in professional practice (61 %). The recreational use of the Internet (96 %) is higher than as part of daily clinical practice (37 %), either email (90 % versus 38 % ). Only a few (17 %) have Internet access at work and the majority (60 %) have to travel at least 30 minutes to have Internet access. Those who have Internet access at work , 91 % use it for self-learning and teaching activities. Conclusion: Our data support the idea that only the access to technological resources is not enough. Mobile devices seem to offer advantage of accessibility for this group.
