The impact of frailty on intra-hospital survival in older patients with COVID-19 infection: the importance of early identification. SEMI-COVID National Registry.

BACKGROUND: Emerging evidence suggests that frailty may be a significant predictor of poor outcomes in older individuals hospitalized due to COVID-19. This study aims to determine the prognostic value of frailty on intrahospital patient survival. METHODS: This observational, multicenter, nationwide study included patients aged 70 years and older who were hospitalized due to COVID-19 in Spain between March 1 and December 31, 2020. Patient data were obtained from the SEMI-COVID-19 Registry of the Spanish Society of Internal Medicine. Frailty was assessed using the Clinical Frailty Scale. The primary outcome was hospital survival. Cox proportional hazards models were used to assess predictors of survival. RESULTS: A total of 1,878 participants (52% men and 48% women) were included, with 1,351 (71.9%) survivors and 527 (28.1%) non-survivors. The non-survivor group had higher mean age (83.5 vs. 81 years), comorbidities (6.3 vs. 5.3 points on the Charlson index), degree of dependency (26.8% vs. 12.4% severely dependent patients), and frailty (34.5% vs. 14.7% severely frail patients) compared to survivors. However, there were no differences in terms of sex. Our results demonstrate that a moderate-severe degree of frailty is the primary factor independently associated with shorter survival [HR 2.344 (1.437-3.823; p<0.001) for CFS 5-6 and 3.694 (2.155-6.330; p<0.001) for CFS 7-9]. CONCLUSION: Frailty is the main predictor of adverse outcomes in older patients with COVID-19. The utilization of tools such as the Clinical Frailty Scale is crucial for early detection in this population.

Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype-phenotype correlation.

Epidermolysis bullosa simplex (EBS) is a hereditary genodermatosis characterised by trauma-induced intraepidermal blistering of the skin. EBS is mostly caused by mutations in the KRT5 and KRT14 genes. Disease severity partially depends on the affected keratin type and may be modulated by mutation type and location. The aim of our study was to identify the molecular defects in KRT5 and KRT14 in a cohort of 46 Polish and one Belarusian probands with clinical suspicion of EBS and to determine the genotype-phenotype correlation. The group of 47 patients with clinical recognition of EBS was enrolled in the study. We analysed all coding exons of KRT5 and KRT14 using Sanger sequencing. The pathogenic status of novel variants was evaluated using bioinformatical tools, control group analysis (DNA from 100 healthy population-matched subjects) and probands' parents testing. We identified mutations in 80 % of patients and found 29 different mutations, 11 of which were novel and six were found in more than one family. All novel mutations were ascertained as pathogenic. In the majority of cases, the most severe genotype was associated with mutations in highly conserved regions. In some cases, different inheritance mode and clinical significance, than previously reported by others, was observed. We report 11 novel variants and show novel genotype-phenotype correlations. Our data give further insight into the natural history of EBS molecular pathology, epidemiology and mutation origin.

[Propafenone efficacy in preventing supraventricular tachycardia in childhood]. / Eficacia de la propafenona en la prevención de la taquicardia supraventricular en la infancia.

OBJECTIVES: In order to study the efficiency of oral dose of propafenone in preventing childhood supraventricular tachycardias, we have treated 38 children without left ventricular dysfunction. METHODS: The mean age has been 8 +/- 4.7 years old. All of them had suffered at least two episodes of supraventricular tachycardia, and eleven had undergone a previous antiarrhythmic treatment. The initial dose of propafenone has been 6.5 +/- 2.1 mg/kg/24 h (in 3 doses), which has been increased in case of inefficacy. RESULTS: We have not advised neither side-effects, nor proarrhythmic effects, during a follow-up of 13 +/- 6 months. Propafenone has been efficient in preventing supraventricular tachycardias in all patients. The initial dose has been efficient in 17 patients, and we have increased the initial dose up to 11.1 +/- 3.7 mg/kg/24 h in 21 patients. The mean effective dose has been 8.9 +/- 3.6 mg/kg/24 h. We stopped treatment in 14 patients after been 6 months without supraventricular tachycardias. CONCLUSION: From our study, we conclude that propafenone has been efficient in preventing supraventricular tachycardias in childhood with a dose of 8.9 mg/kg/24 h. We have not found side-effects.