RESUMEN
Renal hypomagnesemia syndromes involving CNNM2 protein pathogenic variants are associated with variable degrees of neurocognitive dysfunction and hypomagnesemia. Here, we report a family with a novel CNNM2 p.Pro482Ala variant, presenting with overt hypomagnesemia and mild neurological involvement (autosomal dominant renal hypomagnesemia 6, HOMG6, MIM# 613882). Using a bioinformatics approach, we showed that the p.Pro482Ala amino acid substitution causes a 3D conformational change in CNNM2 structure in the cystathionin beta synthase (CBS) domain and the carboxy-terminal protein segment. A novel finding was that aldosterone inhibition with spironolactone helped to alleviate hypomagnesemia and symptoms in the proband.
Asunto(s)
Proteínas de Transporte de Catión , Espironolactona , Sustitución de Aminoácidos , Proteínas de Transporte de Catión/metabolismo , Riñón/metabolismo , Magnesio/metabolismo , Espironolactona/uso terapéuticoRESUMEN
Older individuals have an increased risk for severe coronavirus disease 2019 (COVID-19) and a higher risk for complications and death. The aim of this study was to investigate the clinical characteristics of older patients admitted with COVID-19 and describe their outcomes. This was a retrospective cohort study of patients older than 65 years admitted to the COVID-19 Department of the University Hospital of Heraklion. Data recorded and evaluated included age, gender, Infectious Diseases Society of America (IDSA) severity score, Charlson comorbidity index (CCI), high-flow nasal oxygen (HFNO) use, admission to the Intensive Care Unit (ICU), laboratory exams, treatment administered, and outcome. In total, 224 patients were evaluated in the present study. The median age was 75 years and 105 (46.9%) were female. In 50 patients (22.7%), HFNO was used and 23 (10.3%) were admitted to the ICU. Mortality was 13.4% (30 patients). Patients that died had higher age, were more likely to be male, had an IDSA severity score of 3, had prior HFNO use, had been admitted to the ICU, and were also more likely to have a higher white blood cell (WBC) count, CRP, ferritin, procalcitonin, d-dimers, and troponin. A multivariate logistic regression analysis identified age and the need for HFNO use to be independently positively associated with mortality. To conclude, COVID-19 carries significant mortality in hospitalized older patients, which increases with age, while the need for HFNO also increased the likelihood of worse outcomes. Clinicians caring for patients with COVID-19 should bear in mind these two factors. Future studies could elaborate on the effect of new variants on the dynamics of mortality in older patients.
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BACKGROUND: The development of vaccines against COVID-19 has greatly altered the natural course of this infection, reducing the disease's severity and patients' hospitalization. However, hesitancy against vaccination remains an obstacle in the attempt to achieve appropriate herd immunity that could reduce the spread of SARS-CoV-2. The aim of this study was to investigate the perceptions and attitudes of COVID-19 patients hospitalized during the fourth pandemic wave in two Greek hospitals and assess whether their experience had changed their intentions regarding vaccination against COVID-19. METHODS: This is a cross-sectional, questionnaire-based survey, conducted from 31 August 2021 to 18 February 2022 in the COVID-19 departments of two tertiary care hospitals. The questionnaire included questions regarding the patients' educational level, knowledge and beliefs regarding SARS-CoV-2, personal protection measures, beliefs regarding vaccination, vaccination status, reasons for not been vaccinated against SARS-CoV-2, feelings of regret for not been vaccinated, and willingness to be vaccinated in the future. All adult patients with COVID-19 were eligible, regardless of their vaccination status against SARS-CoV-2. RESULTS: In total, 162 patients agreed and participated in the study, with 97% of them suffering severe COVID-19. Their median age was 56 years, and 59.9% (97 patients) were male. Among them, 43.8% had been vaccinated against COVID-19. When unvaccinated patients were asked the reasons for not being vaccinated, the most frequent responses were that they were waiting for more scientific data, due to uncertainty about long-term consequences of the vaccine, and their fear of thrombosis. When at discharge, unvaccinated hospitalized COVID-19 patients were asked whether they would get vaccinated if they could turn time back, and 64.7% of them replied positively. CONCLUSIONS: The study reveals several patients' fears and misconceptions and suggests that there is room for implementing measures that could reduce knowledge gaps allowing for improvement of vaccination rates against COVID-19.
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AIMS: Urinary tract infections (UTIs) are commonly encountered. They are more commonly caused by Enterobacteriaceae, while antimicrobial resistance is an emerging problem in their management, with extended-spectrum-ß-lactamase (ESBL) producing Gram-negative bacteria and multidrug-resistant (MDR) Pseudomonas aeruginosa being increasingly common. The purpose of this study was to investigate the epidemiology and outcomes of UTIs in patients admitted in a tertiary hospital, which mostly admits geriatric patients, and compare the effects of antimicrobial resistance on patient outcomes. METHODS: A retrospective observational study was conducted at a University Hospital in Crete, Greece. Epidemiology and clinical characteristics of patients with a UTI were recorded. RESULTS: During the 3-year period of the study, 204 UTIs were recorded. Mean age was 83.3 years and 38.7% were male. The most common isolated pathogens were Escherichia coli, Klebsiella pneumoniae, Proteus mirabilis and Enterococcus faecalis. Among all patients with UTI, 15.7% had an infection from ESBL, MDR, extensively drug-resistant or vancomycin-resistant enterococci pathogens. Recent antimicrobial use or hospitalization, dementia, bedridden state and sex were independently associated with mortality, while being a nursing home resident was independently associated with a higher possibility of infection from ESBL, MDR, extensively drug-resistant or vancomycin-resistant enterococci pathogens. Infection by such a resistant pathogen led to increased duration of hospitalization but not to increased mortality. CONCLUSIONS: Alarming antimicrobial resistance rates were noted in patients with UTIs, and this led to longer duration of hospitalization even though it did not have an impact on mortality, which was otherwise higher than in other studies. Geriatr Gerontol Int 2020; 20: 1228-1233.