Evaluación funcional en ancianos intervenidos de fractura de cadera

Estudio observacional prospectivo en pacientes mayores de 65 años intervenidos de fractura de cadera. El objetivo fue conocer la evolución funcional de los pacientes a los tres meses del alta hospitalaria, identificar variables relacionadas con dicha recuperación funcional, describir la mortalidad e institucionalización asociadas al proceso. Se analizaron variables demográficas como edad, sexo, convivencia. Otros aspectos registrados fueron: comorbilidad, deterioro cognitivo, capacidad para caminar, nivel de dependencia según índice de Barthel, institucionalización y mortalidad. Se recogió la información al ingreso y a los 3 meses del alta. El 89,6% de la muestra, fueron mujeres, la edad media fue de 83,56 años. El 40% de los pacientes recuperaron la independencia previa registrándose una mortalidad del 16,7% así como una leve progresión hacia la institucionalización. La capacidad funcional y el deterioro cognitivo del paciente, previos a la fractura condicionan su recuperación funcional y dependencias posteriores

Unraveling the effect of silent, intronic and missense mutations on VWF splicing: contribution of next generation sequencing in the study of mRNA

Large studies in von Willebrand disease patients, including Spanish and Portuguese registries, led to identification of >250 different mutations. It is a challenge to determine the pathogenic effect of potential splice site mutations on VWF mRNA. This study aimed to elucidate the true effects of 18 mutations on VWF mRNA processing, investigate the contribution of next-generation sequencing to in vivo mRNA study in von Willebrand disease, and compare the findings with in silico prediction. RNA extracted from patient platelets and leukocytes was amplified by RT-PCR and sequenced using Sanger and next generation sequencing techniques. Eight mutations affected VWF splicing: c.1533+1G>A, c.5664+2T>C and c.546G>A (p.=) prompted exon skipping; c.3223-7_3236dup and c.7082-2A>G resulted in activation of cryptic sites; c.3379+1G>A and c.7473G>A (p.=) demonstrated both molecular pathogenic mechanisms simultaneously; and the p.Cys370Tyr missense mutation generated two aberrant transcripts. Of note, the complete effect of 3 mutations was provided by next generation sequencing alone because of low expression of the aberrant transcripts. In the remaining 10 mutations, no effect was elucidated in the experiments. However, the differential findings obtained in platelets and leukocytes provided substantial evidence that 4 of these would have an effect on VWF levels. In this first report using next generation sequencing technology to unravel the effects of VWF mutations on splicing, the technique yielded valuable information. Our data bring to light the importance of studying the effect of synonymous and missense mutations on VWF splicing to improve the current knowledge of the molecular mechanisms behind von Willebrand disease.info:eu-repo/semantics/publishedVersio

Interacción de enfermería y cuidadoras informales de personas dependientes

IntroducciónEl cuidado informal es el que prestan a personas dependientes familiares, amigos u otros que no reciben remuneración por la ayuda que ofrecenObjetivoAveriguar las actitudes que las enfermeras de atención primaria de Albacete tienen hacia los cuidadores familiaresDiseñoInvestigación cualitativa con grupos de discusiónEmplazamientoMarco de atención primaria de Albacete: 5 centros de salud (2 rurales y 3 urbanos)ParticipantesEnfermeras/os que siguen programa de visita domiciliaria en atención primaria, con diferentes años de experiencia y formación, procedentes tanto del medio rural como urbano. Criterio de exclusión: enfermeras/os en puestos de dirección y gestión en el momento de la captación. Fueron captados por enfermeras de atención primaria según los perfiles requeridos de los participantesMétodoLa información se recogió del discurso de los grupos, que se grabó y posteriormente se transcribió para su análisisResultados y conclusionesLos participantes en los 2 grupos de discusión tienen las siguientes características: 3 son varones y 8 mujeres; 5 de ellos pertenecen a centros de salud rurales y 6 a centros urbanos; 3 tienen una experiencia menor de 2 años en el programa de visita domiciliaria y 8 tienen más de 5 años de experiencia en él; 5 finalizaron sus estudios de enfermería antes de 1990 y 6, después de 1990. En los discursos se puso en evidencia que la amplia experiencia de las enfermeras de atención primaria las hace conscientes de la situación de salud y calidad de vida de los cuidadores informales, así como de su soledad y los conflictos interpersonales que surgen en las familias cuando aparece una situación de dependencia. Las enfermeras tienen asumida su función educativa con los cuidadores a pesar de las limitaciones. Predomina la visión de que la responsabilidad del cuidado de la persona dependiente es de la familia, y se aprecia una preocupación por la falta de recursos y de apoyos. Tienen una visión del cuidador como recurso y apenas le reconocen como pacienteObjectiveTo find the attitudes that primary care nurses in Albacete have towards family carersDesignQualitative research using discussion groupsSettingPrimary care in Albacete: 5 health centres, 2 rural and 3 urbanParticipantsNurses following a primary care home visit programme, of both sexes, differing experience and training, and coming from both rural and urban areas took part. Exclusion criterion: nurses in management and administrative posts at time of recruitment. They were recruited by primary care nurses in line with the profiles of participants requiredMethodInformation was collected through discussion in the groups, which was recorded and later transcribed for analysisResults and conclusionsThose taking part in the 2 discussion groups had the following characteristics: 3 men and 8 women. 5 of them were from rural health centres (HC) and 6 from urban HC; 3 had under 2 years experience in the Home Visit Programme(HVP) and 8 had over 5 years experience in it; 5 completed their nursing studies before 1990, and 6 afterwards. In the chats it was clear that the broad experience of PC nurses made them aware of the health situation and quality of life of informal carers, of the loneliness of these and the inter-personal conflicts that occur in families when a situation of dependency arises. Nurses had their educational function towards the carers assumed despite the limitations. The view that the responsibility for the care of the dependent person is the family's was predominant, and a concern for lack of resources and support was appreciated. Nurses had a view of the carer as a resource and barely perceived her as a patien

Joint status in Spanish haemophilia B patients assessed using the Haemophilia Early Arthropathy Detection with Ultrasound (HEAD-US) score

Aim: The use of musculoskeletal ultrasound (MSK-US) following protocols for haemophilic arthropathy and the Haemophilia Early Arthropathy Detection with Ultrasound (HEAD-US) score can help standardize monitoring in haemophilia. This study evaluated the joint status (elbows, knees and ankles) of patients with haemophilia B (HB) in Spain using MSK-US and the HEAD-US score. Methods: Haemophilia B patients 6514 years old were included in this observational, multicentre, cross-sectional study, regardless of their clinical condition, HB severity and treatment received. Two blinded observers were involved in image acquisition and scoring in each centre. Results: Eighty-two patients from 12 centres were enrolled: 27% mild HB, 23% moderate, 50% severe HB. Mean age was 38.9 \ub1 16.4 years, 60% were treated on demand (OD) and 40% were on prophylaxis. HEAD-US was zero in all joints in 28.6% OD patients and 36.4% on prophylaxis. Mean scores significantly worsened with HB severity, except for the left knee. Patients on primary and secondary prophylaxis had significantly better joint health vs OD patients in all joints, except the right ankle. Among OD patients, those with severe disease presented significantly worse scores in all HEAD-US items related to permanent damage. Conclusion: Joint status of HB patients in Spain is influenced by severity and treatment modality, related to the development of arthropathy, which appears prevalent in OD patients with severe HB. Routine assessment with an imaging tool such as ultrasound and HEAD-US system may help to improve joint health by personalizing and adjusting treatment in this population