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1.
Eur Heart J Suppl ; 24(Suppl B): B23-B27, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-35370506

RESUMO

Transcatheter aortic valve implantation (TAVI) has become a high-volume procedure with increasing demands on hospital resources. Local anaesthesia with sedation supervised by an anaesthesiology team is the current standard of care. We aimed to describe our experience with a simplified, nurse-led sedation (NLS) protocol. This study enrolled 128 consecutive patients who underwent transfemoral TAVI with self-expandable Evolut R prosthesis between November 2019 and April 2021. Operators selected 50% of patients for NLS based on the clinical expectation of lower risk of procedural difficulties. Nurse-led sedation protocol demanded only mild to moderate levels of sedation. The clinical outcomes were determined from the local TAVI registry and the national mortality database. Baseline patient characteristics were similar in the NLS (n = 64) and anaesthesiologist-led sedation (ALS) (n = 64) groups except higher prevalence of diabetes mellitus (48.4% vs. 31.3%, P = 0.035) and peripheral vascular disease (20.3% vs. 7.8%, P = 0.036) in the ALS group. There was a trend for the larger prostheses used in the ALS group (P = 0.058). The procedural results did not differ, and coronary care team backup was rarely needed in the NLS group (6% of patients). The in-hospital outcomes were identical from both clinical and echocardiography perspectives, and 30-day mortality was low in both groups (1.5%). For the NLS group, preparation in the catheterization laboratory was quicker by 6.4 min (P = 0.01), and intensive care unit stay was shorter (2.03 vs. 3.48 days, P = 0.001). In conclusion, the NLS for the selected transfemoral TAVI population seems safe.

2.
Eur Heart J Suppl ; 24(Suppl B): B28-B35, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-35370505

RESUMO

Transcatheter aortic valve implantation (TAVI) varies considerably in terms of the procedural approach taken and the hospital length of stay (LoS); both directly affect the cost of care. Our coronary and standard cardiology unit aimed to simplify TAVI (and thus shorten the LoS) while maintaining safety. A shorter LoS would also reduce the burden on hospital resources and free up beds for other patients. Data on 214 consecutive patients undergoing TAVI at a single centre between April 2018 and March 2021 were retrospectively collected. A simplified protocol was implemented in January 2020; patients were stratified by whether they underwent TAVI before or after simplification. All procedural phases were simplified. For cost comparison purposes, the LoS was defined as the number of hospitalization days from admission to discharge. The total hospitalization cost was the sum of the direct and indirect (including reallocated overhead) costs. The LoS fell significantly (by 36%) after TAVI simplification. The times in the coronary care unit (CCU) and standard cardiac unit (SCU) also fell significantly (by 33% and 37% respectively). Patients in the simplified TAVI group were discharged, on average, 6 days after admission. The CCU costs decreased by 31% and the SCU costs by 39%. Transcatheter aortic valve implantation simplification did not compromise safety. Indeed, patients who underwent the simplified procedure seemed to develop fewer complications, especially bleeding. Transcatheter aortic valve implantation simplification significantly reduced the LoS and other costs without compromising patient safety.

3.
Am J Med Genet A ; 188(4): 1083-1087, 2022 04.
Artigo em Inglês | MEDLINE | ID: mdl-34907639

RESUMO

Zimmermann-Laband syndrome is a rare, heterogeneous disorder characterized by gingival hypertrophy or fibromatosis, aplastic/hypoplastic nails, hypoplasia of the distal phalanges, hypertrichosis, various degrees of intellectual disability, and distinctive facial features. Three genes are considered causative for ZLS: KCNH1, KCNN3, and ATP6V1B2. We report on a pair of female concordant monozygotic twins, both carrying a novel pathogenic variant in the KCNN3 gene, identified using exome sequencing. Only six ZLS patients with the KCNN3 pathogenic variant have been reported so far. The twins show facial dysmorphism, hypoplastic distal phalanges, aplasia or hypoplasia of nails, and hypertrichosis. During infancy, they showed mild developmental delays, mainly speech. They successfully completed secondary school education and are socio-economically independent. Gingival overgrowth is absent in both individuals. Our patients exhibited an unusually mild phenotype compared to published cases, which is an important diagnostic finding for proper genetic counseling for Zimmermann-Laband syndrome patients and their families.


Assuntos
Fibromatose Gengival , Hipertricose , Anormalidades Múltiplas , Anormalidades Craniofaciais , Feminino , Fibromatose Gengival/diagnóstico , Fibromatose Gengival/genética , Deformidades Congênitas da Mão , Humanos , Hiperplasia , Hipertricose/genética , Unhas Malformadas/congênito , Fenótipo , Canais de Potássio Ativados por Cálcio de Condutância Baixa/genética , Gêmeos Monozigóticos/genética
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