Repercusiones de la malformación de Chiari 1 en la calidad de vida del paciente

[spa] La malformación de Chiari tipo 1 (MC-1) es una patología congénita de baja prevalencia codificada dentro del grupo de enfermedades raras. Se define por la presencia de una herniación de las amígdalas del cerebelo por debajo del foramen magnum. Las manifestaciones clínicas de la MC-1 son muy variables, aunque las más frecuentes son las cefaleas occipitonucales, que aumentan con el esfuerzo y las maniobras de Valsalva, parestesias, debilidad en las extremidades, vértigos, cansancio y alteraciones respiratorias durante el sueño, entre otras. Su evolución viene determinada en gran parte por las patologías asociadas, fundamentalmente por la presencia de siringomielia y/o hidrocefalia. El diagnóstico se confirma por resonancia magnética y el tratamiento definitivo es quirúrgico dirigido a conseguir una reconstrucción de la fosa posterior. El objetivo general de este estudio es evaluar la repercusión de la MC-1 en la calidad de vida del paciente y la asociación a cuadros de ansiedad y depresión tras el diagnóstico de la enfermedad, en situación basal antes del tratamiento, y analizar la repercusión de la cirugía a los 6 y 12 meses de la intervención. Se trata de un estudio prospectivo, observacional y descriptivo de una cohorte de 112 pacientes afectos de una malformación de Chiari tipo 1. Los individuos que forman parte de este estudio se reclutaron en el servicio de Neurocirugía del Hospital Universitario Vall d’ Hebron durante 4 años consecutivos (enero de 2009 - diciembre 2013). Los instrumentos de estudio utilizados fueron los test/escalas: Sickness Impact Profile -SIP- (calidad de vida), State-Trait Anxiety Inventory -STAI- (ansiedad) e Inventario de Depresión de Beck (BDI), para avaluar la depresión. De los 112 pacientes que se estudiaron de forma basal, 57 fueron tratados quirúrgicamente. El seguimiento se realizó en 49 pacientes a los 6 meses y en 37 a los 12 meses de la cirugía. Los resultados obtenidos permiten afirmar que la MC-1 afecta de forma significativa en la percepción de la calidad de vida del paciente, tanto en la evaluación inicial como después del tratamiento quirúrgico. Además se observa una asociación con síntomas ansiosos y depresivos tanto en situación basal como tras el procedimiento quirúrgico, a pesar de que se aprecia una mejoría clínica y una correcta evolución radiológica en la mayoría de casos.[eng] Chiari malformation type 1 (MC-1) is a low prevalence congenital disease encoded within the group of rare diseases. It is defined by the presence of a herniation of the cerebellar tonsils below the foramen magnum. The clinical manifestations of MC-1 are highly variable, but the most common ones are occipitonuchal pain that increases with exertion and Valsalva manoeuvres, paraesthesia, limb weakness, dizziness, fatigue and sleeping disorders. Its evolution is mostly determined by its associated pathologies, mainly by the presence of syringomyelia and/ or hydrocephalus. Magnetic Resonance Imaging (MRI) confirms the diagnosis, and the ultimate treatment involves surgery and aims to accomplish a reconstruction of the posterior fossa. The overall objective of this study is to assess the impact of the MC-1 in the life quality of patients and the association to anxiety disorders and depression after being diagnosed with the disease at baseline stage before treatment, and analyse the impact of surgery at 6 and 12 months after surgery. This is a prospective, observational and descriptive study of a cohort of 112 patients affected by Chiari malformation 1. The individuals who are part of this study were recruited in the service of Neurosurgery at the Vall d'Hebron University Hospital for 4 consecutive years (January 2009 - December 2013). The instruments used in this study are used were the test / scales: -SIP- Sickness Impact Profile (quality of life), State-Trait Anxiety Inventory -STAI- (anxiety) and Beck Depression Inventory (BDI) to assess depression. Of the 112 patients studied at baseline, 57 were treated surgically. 49 patients were monitored six months after surgery and 37 patients were monitored 12 months after surgery. The results confirm that the MC-1 significantly affects the perception of the life quality of patients in both the initial evaluation and the one after surgery. There is also an existing association with anxiety and depressive symptoms in both baseline stage and after the surgical procedure, even though clinical improvement and proper radiological outcome are observed in most cases

Understanding the expectations of nursing students following the first clinical internship: A qualitative study

"This study aimed to describe how nursing students' expectations are achieved in their first clinical internship, as part of a longitudinal qualitative study conducted in a public nursing school in Barcelona, Spain. Data in the current phase were collected in 2019 from students (n = 15) after completing an internship for the first time, recruited with purposive sampling until data saturation was reached in semi-structured interviews, and thematic analysis was performed on the interview content. Positive factors that had a powerful influence on students included the accessibility at the internship location and the experience with the clinical instructor, when these provided assessment and integration of the student in the health team. Practical learning is mediated by chance in terms of the center, service, teacher, and clinical instructor assigned. It is crucial to establish consensual measures among all the actors involved to facilitate the efficacy of teaching and learning.

Autonomy and isolation experienced by patients and primary caregivers during COVID-19 hospitalization in Barcelona (Spain)

SARS-CoV-2; Autonomy; IsolationSARS-CoV-2; Autonomía; AislamientoSARS-CoV-2; Autonomia; AïllamentThis study aims to describe patients' and family caregivers' hospitalization experiences during the COVID-19 pandemic. Using qualitative exploratory descriptive methods, 13 patients admitted to the largest hospital in Barcelona (Spain) due to COVID-19 were interviewed by telephone once discharged, as were eight primary caregivers. Data were analyzed using the content analysis method proposed by Krippendorff. Two main themes were identified: (i) Acceptance of mandatory isolation for patients and family caregivers, which refers to the verbalization of a feeling that justifies the imposed isolation and the need for the use of personal protective equipment by the health team for everyone's safety; and (ii) Limited autonomy during hospitalization for patients and family caregivers, which describes participants' perceptions of autonomy during hospitalization. Patients and caregivers experienced feelings of loneliness, which negatively affected their emotional health. In addition, they experienced reduced autonomy due to new habits and routines intended to control the pandemic for the benefit of public and global health

Evaluación de la calidad de vida en los pacientes con una malformación de Chiari tipo I. Estudio piloto en una cohorte de 67 pacientes

Introducción: La malformación de Chiari tipo I (MC-I) es una entidad de baja prevalencia, cuya clínica es muy variada dependiendo del cortejo malformativo asociado, y en la que pueden existir síntomas ansiosodepresivos y una pérdida no definida de la calidad de vida de los pacientes. El objetivo principal de este estudio es determinar la repercusión de la MC-I en la calidad de vida, así como la presencia de ansiedad y depresión en estos pacientes. Pacientes y métodos: Estudio prospectivo de una cohorte de 67 pacientes afectos de MC-I en los que se valoraron la calidad de vida, la presencia de ansiedad y síntomas depresivos mediante las escalas Sickness Impact Profile, inventario de ansiedad estado-rasgo e inventario de depresión de Beck, respectivamente. En cada paciente se registró la presencia de siringomielia o hidrocefalia, así como el grado de ectopia de las amígdalas del cerebelo. Resultados: El impacto de la MC-I en la calidad de vida fue nulo en seis pacientes (9%), leve en 36 (53,7%), moderado en 17 (25,4%) y grave en ocho (11,9%). El área de actividad más afectada fue el trabajo. El 86,6% de los pacientes presentó un nivel de ansiedad moderado o elevado. En el 25,4% de los pacientes también se constataron síntomas depresivos moderados o graves. Conclusiones: La gran mayoría de los pacientes con una MC-I considera que su enfermedad implica una pérdida de calidad de vida que, en muchos casos, se asocia a una alta ansiedad y a síntomas depresivo

Expectations of patients awaiting lung transplantation: A qualitative study

Expectations; Lung transplant; Patient experienceExpectativas; Trasplante de pulmón; Experiencia del pacienteExpectatives; Trasplantament de pulmó; Experiència del pacientAim The main aim of the present study is to examine the expectations and feelings of people awaiting lung transplantation. Background The assessment of the benefits of lung transplant should consider, among other things, the subjective perceptions of patients about the procedure, especially in relation to the context and to their values, goals and expectations. This is an issue that has not been studied in depth, especially in Spain. Design Exploratory qualitative study. Methods Data were collected through semi-structured interviews during the period of being on the waiting list for transplantation. Thematic analysis of the data was supported by the Atlas.ti software. Results The study population comprised 16 patients awaiting lung transplant, a number sufficient to reach data saturation. Four categories were identified to describe patients' feelings and expectations: (1) reasons for undergoing the transplant, (2) expectations about life post-transplant, (3) emotional state, and (4) relationship with the healthcare team. Conclusions Patients have high expectations of lung transplantation. They see it as offering them a second chance at life, although the future creates uncertainty. The healthcare professionals are identified as key actors, providing essential support and information throughout the various stages of the process. Future research should explore recipients' experiences of lung transplant at later stages. Relevance to clinical practice It is important to adapt care through all the lung transplant process, which is accompanied by intense and complex emotions since the beginning. Thus, providing social and psychological support from the beginning may contribute to their health status, helping them deal with all the emotions and feelings experienced, and find balance between expectations and reality. Patient or public contribution Sixteen patients awaiting lung transplant were interviewed. Interview transcripts were returned to participants to check for accuracy with their experiences

Rare functional genetic variants in COL7A1, COL6A5, COL1A2 and COL5A2 frequently occur in Chiari Malformation Type 1

Seqüenciació de gens; Genòmica; Imatges per ressonància magnèticaSecuenciación de genes; Genómica; Imágenes por resonancia magnéticaGene sequencing; Genomics; Magnetic resonance imagingChiari Malformation Type 1 (CM-1) is characterized by herniation of the cerebellar tonsils below the foramen magnum and the presence of headaches and other neurologic symptoms. Cranial bone constriction is suspected to be the most common biologic mechanism leading to CM-1. However, other mechanisms may also contribute, particularly in the presence of connective tissue disorders (CTDs), such as Ehlers Danlos Syndrome (EDS). Accumulating data suggest CM-1 with connective tissue disorders (CTD+) may have a different patho-mechanism and different genetic risk factors than CM-1 without CTDs (CTD-). To identify CM-1 genetic risk variants, we performed whole exome sequencing on a single large, multiplex family from Spain and targeted sequencing on a cohort of 186 unrelated adult, Caucasian females with CM-1. Targeted sequencing captured the coding regions of 21 CM-1 and EDS candidate genes, including two genes identified in the Spanish family. Using gene burden analysis, we compared the frequency of rare, functional variants detected in CM-1 cases versus publically available ethnically-matched controls from gnomAD. A secondary analysis compared the presence of rare variants in these genes between CTD+ and CTD- CM-1 cases. In the Spanish family, rare variants co-segregated with CM-1 in COL6A5, ADGRB3 and DST. A variant in COL7A1 was present in affected and unaffected family members. In the targeted sequencing analysis, rare variants in six genes (COL7A1, COL5A2, COL6A5, COL1A2, VEGFB, FLT1) were significantly more frequent in CM-1 cases compared to public controls. In total, 47% of CM-1 cases presented with rare variants in at least one of the four significant collagen genes and 10% of cases harbored variants in multiple significant collagen genes. Moreover, 26% of CM-1 cases presented with rare variants in the COL6A5 gene. We also identified two genes (COL7A1, COL3A1) for which the burden of rare variants differed significantly between CTD+ and CTD- CM-1 cases. A higher percentage of CTD+ patients had variants in COL7A1 compared to CTD+ patients, while CTD+ patients had fewer rare variants in COL3A1 than did CTD- patients. In summary, rare variants in several collagen genes are particularly frequent in CM-1 cases and those in COL6A5 co-segregated with CM-1 in a Spanish multiplex family. COL6A5 has been previously associated with musculoskeletal phenotypes, but this is the first association with CM-1. Our findings underscore the contribution of rare genetic variants in collagen genes to CM-1, and suggest that CM-1 in the presence and absence of CTD symptoms is driven by different genes.This work was supported by a grant from Conquer Chiari to AAK. Collection of the Chiari1000 study participants utilized in this study was supported by a grant from Conquer Chiari to FL at University of Akron. Collection of the Duke study participants utilized in this study was supported by a grant from the National Institutes of Health (NS063273). A.U. was the recipient of a Postdoctoral Fellowship from Fundación Ramón Areces (Spain). RL is the Executive Director of Conquer Chiari which provided some of the funding for this work. For the manuscript, he assisted with revising and editing the manuscript. The funders did have a role in study design, but had no role in data collection and analysis, decision to publish, or preparation of the manuscript

Autonomy and isolation experienced by patients and primary caregivers during COVID-19 hospitalization in Barcelona (Spain)

Altres ajuts: acord transformatiu CRUE-CSICThis study aims to describe patients' and family caregivers' hospitalization experiences during the COVID-19 pandemic. Using qualitative exploratory descriptive methods, thirteen patients admitted to the largest hospital in Barcelona (Spain) due to COVID-19 were interviewed by telephone once discharged, as were eight primary caregivers. Data were analyzed using the content analysis method proposed by Krippendorff. Two main themes were identified: a) Acceptance of mandatory isolation for patients and family caregivers, which refers to the verbalization of a feeling that justifies the imposed isolation and the need for the use of personal protective equipment by the health team for everyone's safety, and b) Limited autonomy during hospitalization for patients and family caregivers, which describes participants' perceptions of autonomy during hospitalization. Patients and caregivers experienced feelings of loneliness, which negatively affected their emotional health. In addition, they experienced reduced autonomy due to new habits and routines intended to control the pandemic for public and global health

Rare functional genetic variants in COL7A1, COL6A5, COL1A2 and COL5A2 frequently occur in Chiari Malformation Type 1

Chiari Malformation Type 1 (CM-1) is characterized by herniation of the cerebellar tonsils below the foramen magnum and the presence of headaches and other neurologic symptoms. Cranial bone constriction is suspected to be the most common biologic mechanism leading to CM-1. However, other mechanisms may also contribute, particularly in the presence of connective tissue disorders (CTDs), such as Ehlers Danlos Syndrome (EDS). Accumulating data suggest CM-1 with connective tissue disorders (CTD+) may have a different patho-mechanism and different genetic risk factors than CM-1 without CTDs (CTD-). To identify CM-1 genetic risk variants, we performed whole exome sequencing on a single large, multiplex family from Spain and targeted sequencing on a cohort of 186 unrelated adult, Caucasian females with CM-1. Targeted sequencing captured the coding regions of 21 CM-1 and EDS candidate genes, including two genes identified in the Spanish family. Using gene burden analysis, we compared the frequency of rare, functional variants detected in CM-1 cases versus publically available ethnically-matched controls from gnomAD. A secondary analysis compared the presence of rare variants in these genes between CTD+ and CTD- CM-1 cases. In the Spanish family, rare variants co-segregated with CM-1 in COL6A5, ADGRB3 and DST. A variant in COL7A1 was present in affected and unaffected family members. In the targeted sequencing analysis, rare variants in six genes (COL7A1, COL5A2, COL6A5, COL1A2, VEGFB, FLT1) were significantly more frequent in CM-1 cases compared to public controls. In total, 47% of CM-1 cases presented with rare variants in at least one of the four significant collagen genes and 10% of cases harbored variants in multiple significant collagen genes. Moreover, 26% of CM-1 cases presented with rare variants in the COL6A5 gene. We also identified two genes (COL7A1, COL3A1) for which the burden of rare variants differed significantly between CTD+ and CTD- CM-1 cases. A higher percentage of CTD+ patients had variants in COL7A1 compared to CTD+ patients, while CTD+ patients had fewer rare variants in COL3A1 than did CTD- patients. In summary, rare variants in several collagen genes are particularly frequent in CM-1 cases and those in COL6A5 co-segregated with CM-1 in a Spanish multiplex family. COL6A5 has been previously associated with musculoskeletal phenotypes, but this is the first association with CM-1. Our findings underscore the contribution of rare genetic variants in collagen genes to CM-1, and suggest that CM-1 in the presence and absence of CTD symptoms is driven by different genes.This work was supported by a grant from Conquer Chiari to AAK. Collection of the Chiari1000 study participants utilized in this study was supported by a grant from Conquer Chiari to FL at University of Akron. Collection of the Duke study participants utilized in this study was supported by a grant from the National Institutes of Health (NS063273). A.U. was the recipient of a Postdoctoral Fellowship from Fundación Ramón Areces (Spain). RL is the Executive Director of Conquer Chiari which provided some of the funding for this wor