Tratamientos coadyuvantes a la ventilación mecánica invasiva en el manejo del síndrome de distrés respiratorio agudo secundario a covid-19 / Adjuvant treatments to invasive mechanical ventilation in the management of acute respiratory distress syndrome secondary to COVID-19

Introducción: La presente revisión bibliográfica está realizada con el fin de obtener respuestas acerca de aspectos relacionados con las técnicas y tratamientos, así como cuidados asociados al paciente crítico diagnosticado con covid-19. Objetivo: Analizar la evidencia científica disponible sobre la efectividad de la utilización de la ventilación mecánica invasiva junto con otras técnicas coadyuvantes, en la reducción de la tasa de mortalidad en pacientes con síndrome de distrés respiratorio agudo y juicio clínico de covid-19 atendidos en unidades de cuidados intensivos. Metodología: Se realizó una revisión bibliográfica sistematizada en las bases de datos PubMed, CUIDEN, LILACS, Medline, CINAHL y Google Scholar, utilizando términos MeSH (adult respiratory distress syndrome, mechanical ventilation, prone position, nitric oxide, extracorporeal membrane oxygenation, nursing care) y los operadores booleanos correspondientes. Los estudios seleccionados se sometieron a una lectura crítica realizada entre el 6 de diciembre de 2020 y el 27 de marzo de 2021 utilizando la herramienta Critical Appraisal Skills Programme en español y un instrumento de evaluación de estudios epidemiológicos transversales. Resultados: Se seleccionaron un total de 85 artículos. Tras realizar la lectura crítica se incluyeron en la revisión un total de 7 artículos, consistiendo en 6 estudios descriptivos y un estudio de cohortes. Tras el análisis de dichos estudios, se desprende que la técnica que mejor resultados ha obtenido es la oxigenación por membrana extracorpórea, siendo importantes los cuidados proporcionados por el personal de enfermería cualificado y capacitado. Conclusión: La mortalidad por covid-19 aumenta en pacientes tratados con ventilación mecánica invasiva respecto a los pacientes tratados con oxigenación por membrana extracorpórea. Los cuidados de enfermería y la especialización pueden repercutir en una mejora de los resultados en los pacientes.(AU)

Introduction: This bibliographic review is carried out in order to obtain answers about aspects related to techniques and treatments, as well as care associated with the critically ill patient diagnosed with COVID-19. Objective: To analyze the available scientific evidence on the effectiveness of the use of invasive mechanical ventilation together with other adjuvant techniques, in reducing the mortality rate in patients with acute respiratory distress syndrome and clinical trial of COVID-19 treated in intensive care units. Methodology: A systematized bibliographic review was carried out in the PubMed, CUIDEN, LILACS, Medline, CINAHL and Google Scholar databases, using MeSH terms (adult respiratory distress syndrome, mechanical ventilation, prone position, nitric oxide, extracorporeal membrane oxygenation, nursing care) and the corresponding Boolean operators. The selected studies underwent a critical reading carried out between December 6, 2020 and March 27, 2021 using the Critical Appraisal Skills Program tool in Spanish and a cross-sectional epidemiological studies evaluation instrument. Results: A total of 85 articles were selected. After performing the critical reading, a total of 7 articles were included in the review, 6 being descriptive studies and one a cohort study. After analyzing these studies, it appears that the technique that has obtained the best results is extracorporeal membrane oxygenation, with the care provided by qualified and trained nursing staff being very important. Conclusion: Mortality from COVID-19 increases in patients treated with invasive mechanical ventilation compared to patients treated with extracorporeal membrane oxygenation. Nursing care and specialization can have an impact on improving patient outcomes.(AU)

Adjuvant treatments to invasive mechanical ventilation in the management of acute respiratory distress syndrome secondary to COVID-19.

INTRODUCTION: This bibliographic review is carried out in order to obtain answers about aspects related to techniques and treatments, as well as care associated with the critically ill patient diagnosed with Covid-19. OBJECTIVE: To analyze the available scientific evidence on the effectiveness of the use of invasive mechanical ventilation together with other adjuvant techniques, in reducing the mortality rate in patients with Acute Respiratory Distress Syndrome and clinical trial of Covid-19 treated in intensive care units. METHODOLOGY: A systematized bibliographic review was carried out in the Pubmed, Cuiden, Lilacs, Medline, Cinahl and Google Scholar databases, using MeSH terms (Adult Respiratory Distress Syndrome, Mechanical Ventilation, Prone Position, Nitric Oxide, Extracorporeal Membrane Oxygenation, Nursing Care) and the corresponding Boolean operators. The selected studies underwent a critical reading carried out between December 6, 2020 and March 27, 2021 using the Critical Appraisal Skills Program tool in Spanish and a cross-sectional epidemiological studies evaluation instrument. RESULTS: A total of 85 articles were selected. After performing the critical reading, a total of 7 articles were included in the review, 6 being descriptive studies and 1 cohort study. After analyzing these studies, it appears that the technique that has obtained the best results is ECMO, with the care provided by qualified and trained nursing staff being very important. CONCLUSION: Mortality from Covid-19 increases in patients treated with invasive mechanical ventilation compared to patients treated with extracorporeal membrane oxygenation. Nursing care and specialization can have an impact on improving patient outcomes.

[Adjuvant treatments to invasive mechanical ventilation in the management of acute respiratory distress syndrome secondary to COVID-19]. / Tratamientos coadyuvantes a la ventilación mecánica invasiva en el manejo del síndrome de distrés respiratorio agudo secundario a covid-19.

Introduction: This bibliographic review is carried out in order to obtain answers about aspects related to techniques and treatments, as well as care associated with the critically ill patient diagnosed with COVID-19. Objective: To analyze the available scientific evidence on the effectiveness of the use of invasive mechanical ventilation together with other adjuvant techniques, in reducing the mortality rate in patients with acute respiratory distress syndrome and clinical trial of COVID-19 treated in intensive care units. Methodology: A systematized bibliographic review was carried out in the PubMed, CUIDEN, LILACS, Medline, CINAHL and Google Scholar databases, using MeSH terms (adult respiratory distress syndrome, mechanical ventilation, prone position, nitric oxide, extracorporeal membrane oxygenation, nursing care) and the corresponding Boolean operators. The selected studies underwent a critical reading carried out between December 6, 2020 and March 27, 2021 using the Critical Appraisal Skills Program tool in Spanish and a cross-sectional epidemiological studies evaluation instrument. Results: A total of 85 articles were selected. After performing the critical reading, a total of 7 articles were included in the review, 6 being descriptive studies and one a cohort study. After analyzing these studies, it appears that the technique that has obtained the best results is extracorporeal membrane oxygenation, with the care provided by qualified and trained nursing staff being very important. Conclusion: Mortality from COVID-19 increases in patients treated with invasive mechanical ventilation compared to patients treated with extracorporeal membrane oxygenation. Nursing care and specialization can have an impact on improving patient outcomes.

[Knowledge and attitudes of health care professionals in advance healthcare directives]. / Conocimientos y actitudes sobre voluntades anticipadas en profesionales sanitarios.

BACKGROUND AND OBJECTIVE: The advanced healthcare directive is a new style of health care relationship, based on the respect of the patients autonomous decisions: as well as a valuable tool that enables a proper management of the decisions made at the end of life. The objective of this study was to explore the knowledge and attitudes of the health care professionals regarding the advance directives, as well as the resources for advanced care planning in a municipality of Madrid during 2016-2017. MATERIAL AND METHODS: A cross-sectional descriptive study was carried out on a population of Health care professionals of Primary and Specialised Care. The knowledge and attitudes questionnaire about the advance directives was used. Sociodemographic and knowledge variables related to resources for the advanced care planning. Statistical-descriptive analysis was performed. RESULTS: A total of 431 professionals were included, with a mean age of 44.55 years (SD: 11.1). As regards knowledge about advance directives, the mean score was 5.08 (SD 2.4), with statistically significant differences being found between professional groups. A small percentage (4.6%) of the professionals had their document of Advance directives ready, and 42% of professionals did not know if they were regulated by the Community of Madrid. Less than half (41.5%) of the professionals knew the palliative resources of their institution. CONCLUSIONS: The health care professional's knowledge about advance directives, as well as the resources for the advanced care planning, show deficiencies at training and information level. Almost half of the professionals did not know if these are regulated in the Community of Madrid. They also believe that it would be useful to plan, and very useful to have the Advance directives document ready.

De novo germline mutation in the serine-threonine kinase STK11/LKB1 gene associated with Peutz-Jeghers syndrome.

Peutz-Jeghers syndrome (PJS) is an autosomal dominant disease, characterized phenotypically by mucocutaneous pigmentation and hamartomatous polyposis. Affected patients are at an increased risk of developing gastrointestinal and other malignancies. Mutations in the STK11/LKB1 (LKB1) gene, which encodes for a serine-threonine kinase, have been identified as a genetic cause of PJS. Molecular analysis of the LKB1 gene in a simplex case of PJS revealed a substitution of cytosine (C) for guanine (G) at codon 246 in exon 6, resulting in the Tyr246X mutation. The nucleotide substitution leads to a premature stop codon at the 246 residue, predicting a truncated protein and presumed loss of kinase activity. Analysis of DNA from both parents of the PJS patient did not show this mutation, which is therefore a de novo mutation. We isolated DNA from microdissected gastrointestinal hamartomatous polyps in the PJS patient and investigated the loss of heterozygosity (LOH) at the LKB1 locus by real-time fluorescence polymerase chain reaction genotyping using a fluorescent resonance energy transfer technique. The results suggest a different mechanism from LOH in the formation of hamartomatous polyps.

[Genetic and molecular characterization of 148 patients with autosomal dominant retinitis pigmentosa (ADRP)]. / Estudio genético-molecular de 148 casos de retinosis pigmentaria autosómica dominante (RPAD).

OBJECTIVE: Genetic characterization of a series of patients with autosomal dominant retinitis pigmentosa (ADRP). METHODS: All patients underwent complete ophthalmological examination including computerized perimetry, electroretinography and occasionally fluorescein angiography. Blood samples were drawn for genetic analysis of candidate genes namely rhodopsin (RHO), peripherin-RDS, ROM-1, CRX, RP1 and NRL. RESULTS: 148 ADRP index cases were examined at our hospital from June 1991 to September 2001. Genetic analysis detected the following mutations: 29 different families (19.5%) carried a RHO mutation among which the Pro-347-Leu was the most frequent one, five different RP-1 mutations (3.3%), 2 RDS mutations and one NRL mutation, which is the second reported in the world literature. CONCLUSIONS: RHO followed by RP1 are the most frequent ADRP-causing genes in our series as in other published ones, and RDS causes mainly macular dystrophies. Molecular characterization was possible in 37 families (25%) which is of great interest for visual prognosis and genetic counselling.

Estudio genético molecular de 148 casos de retinosis pigmentaria autosómica dominante (RPAD) / Genetic and molecular characterization of 148 patients with autosomal dominant retinitis pigmentosa (ADRP)

Objetivo: Análisis mutacional en un colectivo de pacientes afectos de retinosis pigmentaria autosómica dominante (RPAD).Métodos: Exploración oftalmológica completa que incluye pruebas de electrofisiología, campimetría computerizada y en ocasiones angiografía fluoresceínica y estudio genético del ADN para detección de mutaciones en los genes candidatos (rodopsina, periferina, ROM-1, CRX, RP1 y NRL).Resultados: 148 familias diferentes afectas de RPAD fueron evaluadas en nuestro centro desde junio de 1991 hasta septiembre de 2001 y se hallaron las siguientes mutaciones: 29 familias diferentes (19,5 por ciento) presentaron una mutación en el gen de la rodopsina (RHO) de las que Pro-347-Leu fue la más frecuente; 5 mutaciones en el gen RP1 (3,3 por ciento); 2 mutaciones en el gen periferina/RDS y una mutación en el gen NRL que es la segunda descrita en la literatura mundial. Conclusiones: El gen RHO seguido del RP1 son los que con mayor frecuencia se asocian a RPAD al igual que el resto de estadísticas mundiales y el gen RDS causa principalmente distrofias maculares. En un 25 por ciento se obtuvo un diagnóstico molecular, lo cual es de gran importancia para el consejo genético y pronóstico visual del paciente (AU)

Mutations P51U and G122E in retinal transcription factor NRL associated with autosomal dominant and sporadic retinitis pigmentosa.

Retinitis pigmentosa (RP) is the most frequent form of inherited retinopathy. RP is genetically heterogeneous with autosomal dominant, autosomal recessive and X-linked forms. Autosomal dominant retinitis pigmentosa (adRP) accounts for about 20-25% of all RP cases. At least ten adRP loci have so far been mapped. However, mutations causing adRP have been identified only in four retina-specific genes: RHO (encoding rhodopsin) in approximately 20% of adRP families, peripherin/RDS (3-5% of adRP) and recently RP1 (Pierce et al., 1999, Sulivan et al., 1999) and NRL gene. Only one mutation in the NRL gene causing adRP has so far been reported (Bessant et al., 1999). Here we report a novel mutation Pro51Leu in an adRP Spanish family supporting that mutation in NRL is the cause of adRP. A second missense mutation Gly122Glu has been observed in a simplex RP patient that may represent a sporadic case of retinitis pigmentosa. Hum Mutat 17:520, 2001.

Homozygous and heterozygous gly-188-Arg mutation of the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa.

Autosomal dominant retinitis pigmentosa (adRP) may be caused by point mutations in the rhodopsin gene in up to 20% of Spanish families. Most of the rhodopsin mutations causing adRP have been reported in the heterozygous state. We describe a patient with adRP who is homozygous for a missense mutation at codon 188 in the second intradiscal domain of rhodopsin. All her sons are heterozygous for the mutation and show an RP phenotype suggesting complete penetrance for this mutation. The homozygous carrier of the mutation Gly-188-Arg in the rhodopsin gene showed a later subjective onset of symptoms than the heterozygotes, suggesting that the photoreceptor degeneration induced by the mutation is not dramatically influenced by mutant allele dosage.

[Asp-190-Tyr mutation in the rhodopsin gene in a Spanish family with autosomic dominant pigmentary retinosis]. / Mutación Asp-190-Tyr en el gen de la rodopsina en una familia española afectada de retinosis pigmentaria autosómica dominante.

Mutations in the rhodopsin cause of retinitis pigmentosa autosomal dominant (ADRP). We report a large family affected with ADRP. Analysis by denaturant gradient gel electrophoresis and direct DNA sequence detected an heterozygous G to T transversion in the exon 3 of the rhodopsin gene. This mutation damages a restriction site for Taq I enzyme and produces the change Asp-190-Tyr in rhodopsin. All carriers of the mutation show a regional RP phenotype. This mutation is responsible for the disease in this family.