Dyskeratosis congenita: natural history of the disease through the study of a cohort of patients diagnosed in childhood.

Background: Dyskeratosis congenita (DC) is a multisystem and ultra-rare hereditary disease characterized by somatic involvement, bone marrow failure, and predisposition to cancer. The main objective of this study is to describe the natural history of DC through a cohort of patients diagnosed in childhood and followed up for a long period of time. Material and methods: Multicenter, retrospective, longitudinal study conducted in patients followed up to 24 years since being diagnosed in childhood (between 1998 and 2020). Results: Fourteen patients were diagnosed with DC between the ages of 3 and 17 years (median, 8.5 years). They all had hematologic manifestations at diagnosis, and nine developed mucocutaneous manifestations during the first decade of life. Seven presented severe DC variants. All developed non-hematologic manifestations during follow-up. Mutations were identified in 12 patients. Thirteen progressed to bone marrow failure at a median age of 8 years [range, 3-18 years], and eight received a hematopoietic stem cell transplant. Median follow-up time was 9 years [range, 2-24 years]. Six patients died, the median age was 13 years [range, 6-24 years]. As of November 2022, eight patients were still alive, with a median age of 18 years [range, 6-32 years]. None of them have developed myeloblastic syndrome or cancer. Conclusions: DC was associated with high morbidity and mortality in our series. Hematologic manifestations appeared early and consistently. Non-hematologic manifestations developed progressively. No patient developed cancer possibly due to their young age. Due to the complexity of the disease multidisciplinary follow-up and adequate transition to adult care are essential.

El modelo Clinical outcomes, healthcare resource utilization, and related costs (COHERENT). Aplicación en pacientes con insuficiencia cardiaca / The Clinical outcomes, healthcare resource utilization, and related costs (COHERENT) model. Application in heart failure patients

Introducción y objetivos: Los resultados combinados se utilizan ampliamente, pero tienen diversas limitaciones. El modelo Clinical outcomes, healthcare resource utilization and related costs (COHERENT) es una aproximación nueva para presentar y comparar visualmente todos los componentes de los resultados combinados (incidencia, tiempo, duración) y los costes relacionados. El objetivo es evaluar su utilidad en una cohorte de pacientes. Métodos: Se diseñó un sistema de colores que representa gráficamente el porcentaje de pacientes en cada situación clínica (estado vital y ubicación: domicilio, urgencias, hospital), codificada jerárquicamente, en cada momento del seguimiento. Se aplicó a 1.126 pacientes con insuficiencia cardiaca aguda de 25 hospitales seguidos durante 30 días tras su visita a urgencias, y se calculó el tiempo en cada situación clínica y sus costes sanitarios. Resultados: El modelo ilustra visualmente los componentes del objetivo combinado a los 30 días (el 2,12% en urgencias, el 23,6% en hospitalización índice, el 2,7% en reingresos, el 65,5% vivo en casa y el 6,02% fallecido) y muestra diferencias significativas entre grupos de pacientes, hospitales o sistemas sanitarios. El instrumento también calcula y muestra los costes diarios y acumulados (total, 4.895.070 euros; media, 144,91 euros/paciente/día). Conclusiones: El modelo COHERENT es un nuevo método para mostrar visualmente resultados combinados y sus costes que permite comparar grupos de pacientes y cohortes. El nuevo sistema puede ser útil como un nuevo criterio de valoración para ensayos clínicos o estudios observacionales, y un instrumento para la evaluación comparativa, la planificación clínica, el análisis económico y la implementación de la atención sanitaria basada en valor (AU)

Introduction and objectives: Composite endpoints are widely used but have several limitations. The Clinical outcomes, healthcare resource utilization and related costs (COHERENT) model is a new approach for visually displaying and comparing composite endpoints including all their components (incidence, timing, duration) and related costs. We aimed to assess the validity of the COHERENT model in a patient cohort. Methods: A color graphic system displaying the percentage of patients in each clinical situation (vital status and location: at home, emergency department [ED] or hospital) and related costs at each time point during follow-up was created based on a list of mutually exclusive clinical situations coded in a hierarchical fashion. The system was tested in a cohort of 1126 patients with acute heart failure from 25 hospitals. The system calculated and displayed the time spent in each clinical situation and health care resource utilization-related costs over 30 days. Results: The model illustrated the times spent over 30 days (2.12% in ED, 23.6% in index hospitalization, 2.7% in readmissions, 65.5% alive at home, and 6.02% dead), showing significant differences between patient groups, hospitals, and health care systems. The tool calculated and displayed the daily and cumulative health care-related costs over time (total, €4 895 070; mean, €144.91 per patient/d). Conclusions: The COHERENT model is a new, easy-to-interpret, visual display of composite endpoints, enabling comparisons between patient groups and cohorts, including related costs. The model may constitute a useful new approach for clinical trials or observational studies, and a tool for benchmarking, and value-based health care implementation (AU)

Comunicación y mindfulness como prevención del burnout / Communication and mindfulness to prevent burnout

No disponible

La gestión del proceso de fibrilación auricular: un abordaje integral / Managing the atrial fibrillation process: An integral approach

Objetivos. El estudio se ha desarrollado en 3 fases cuyos respectivos objetivos han sido: definir el proceso de gestión más adecuado para la fibrilación auricular (FA) desde el punto de vista de profesionales y pacientes. Conocer cómo se gestiona en la práctica diaria. Identificar los cambios necesarios para que esta práctica diaria se aproxime a una gestión adecuada del proceso. Material y métodos. Diseño: 1.a fase: se han utilizado técnicas de consenso, un análisis de modos de fallo y sus efectos (AMFE) y un grupo focal con pacientes. 2.a fase: se ha desarrollado mediante encuesta. 3.a fase: se han realizado 3 grupos nominales y 3 grupos focales. Emplazamiento: Atención Primaria y Cardiología. Participantes: en la primera fase médicos de familia, cardiólogos y pacientes. En la segunda y tercera, médicos de familia. Mediciones principales: 1.a fase: se ha definido el diagrama de flujo, con sus notas explicativas, del proceso correcto de atención para la FA. 2.a fase: se ha investigado como se atiende en la práctica en la actualidad. 3.a fase: se han identificado las barreras para una correcta atención del proceso y se han definido propuestas para su mejora. Resultados. Casi el 40% de los médicos de familia se implicó en el diagnóstico y tratamiento de sus pacientes con FA. Se identificó la formación, la colaboración entre especialidades, motivación, trabajo en equipo con enfermería y cambios organizacionales como factores imprescindibles para una correcta gestión del proceso. Conclusiones. La FA puede ser gestionada desde Atención Primaria. Para ello son necesarios cambios relevantes en la organización de la asistencia. Se ven como imprescindibles tanto la formación como el apoyo y comunicación entre niveles(AU)

Objectives. The study was developed in 3 phases, with the following aims: To define the most appropriate management process for atrial fibrillation (AF) from the point of view of the health professionals and the patients. To determine how it is managed in daily practice. To identify the changes required in order that this daily practice may come closer to that of an appropriate management process. Material and methods. Design: 1st phase: consensus techniques were used, as well as a failure modes and effects analysis (FMEA), and a focus group with patients. 2nd phase: included a questionnaire. 3rd phase: 3 nominal groups and 3 focus groups were formed. Setting: Primary Care and Cardiology. Participants: Family doctors, cardiologists, and patients, in the first phase, and family doctors in the second and third phases. Main measurements: 1st phase: a flow diagram was designed with its explanatory notes on the correct care process for AF. 2nd phase: how AF was managed in current practice. 3rd phase: barriers for using the correct care process were identified, and proposals for their improvement were defined. Results. Almost 40% of the family doctors were involved in the diagnosis and treatment of their patients with FA. Training, cooperation between specialties, motivation, working in a team with nursing, and organisational changes were identified as essential factors for a proper management process. Conclusions. AF can be managed from Primary Care. To do this, important changes are required in the care organisation. Training, along with support and communication between care levels are also seen as necessary(AU)

[Managing the atrial fibrillation process: an integral approach]. / La gestión del proceso de fibrilación auricular: un abordaje integral.

OBJECTIVES: The study was developed in 3 phases, with the following aims: To define the most appropriate management process for atrial fibrillation (AF) from the point of view of the health professionals and the patients. To determine how it is managed in daily practice. To identify the changes required in order that this daily practice may come closer to that of an appropriate management process. DESIGN: 1st phase: consensus techniques were used, as well as a failure modes and effects analysis (FMEA), and a focus group with patients. 2nd phase: included a questionnaire. 3rd phase: 3 nominal groups and 3 focus groups were formed. SETTING: Primary Care and Cardiology. PARTICIPANTS: Family doctors, cardiologists, and patients, in the first phase, and family doctors in the second and third phases. MAIN MEASUREMENTS: 1st phase: a flow diagram was designed with its explanatory notes on the correct care process for AF. 2nd phase: how AF was managed in current practice. 3rd phase: barriers for using the correct care process were identified, and proposals for their improvement were defined. RESULTS: Almost 40% of the family doctors were involved in the diagnosis and treatment of their patients with FA. Training, cooperation between specialties, motivation, working in a team with nursing, and organisational changes were identified as essential factors for a proper management process. CONCLUSIONS: AF can be managed from Primary Care. To do this, important changes are required in the care organisation. Training, along with support and communication between care levels are also seen as necessary.

Antibody-based diagnosis of small ruminant lentivirus infection in seminal fluid.

Antibody-based diagnosis of small ruminant lentiviruses (SRLVs) has been efficiently achieved using serum and milk, but not semen, for which polymerase chain reaction (PCR) has been proposed as a confirmatory technique. This work, involving 296 ovine (Ovis aries) and caprine (Capra hircus) semen donors, investigates whether seminal fluid (SF) can be reliably used in antibody-based SRLV diagnosis. First, a gold standard was established to assess the infection status and determine the sensitivity and specificity of three commercial enzyme-linked immunosorbent assays (ELISAs) in serum testing using Western blot and PCR as confirmatory tests. For SF testing, both gold standard and serum testing results were used as reference. The performance of SF testing was affected not only by the ELISA assay sensitivity (related to antigen spectrum) compared with that of the gold standard (as it occurred in serum testing) but also by SF sample quality and SF working dilution. Nonturbid SF samples, commonly collected in artificial insemination centers (AICs), were required. Compared with serum, SF testing had a decreased sensitivity in two of the ELISA assays (with original serum working dilutions

[Do people attending clinics at our health centre know the amount of alcohol consumption that becomes detrimental to health?]. / ¿Conocen las personas consultantes de nuestro centro de salud cuánto consumo de alcohol puede ser perjudicial para la salud?

OBJECTIVES: To evaluate our patients' knowledge of the effects of excess drinking; b) to compare this with their awareness of the effects of their day-to-day drinking habits. DESIGN: Descriptive, randomized, cross-sectional questionnaire-based study. Information on alcohol consumption was obtained from medical records. SETTING: Primary care center in Chantrea (Navarra province, northern Spain). Participants. 351 persons older than 14 years who came to the health center. Outcome measures. Number of units of alcohol consumed per day that participants considered harmful to health, and number of units consumed per day according to information in their medical record. RESULTS: Perception of problems associated with excess drinking was good, particularly among women. In general, the participants' awareness (including excess drinkers) of the amounts of alcohol that could damage their health was good. Although younger persons tended to identify as harmful to health limits that were above the recommended figures, we found that their consumption was low but was overrecorded. Comparison of the intakes that persons identified as harmful with the amounts of alcohol they actually consumed showed that the latter was generally related with the former, although in 10% of the participants, recorded intake was higher than the limit they identified as harmful. This group contained 80% of the drinkers in our sample who were considered at risk. CONCLUSIONS: It appears necessary to increase the information given to young persons about harmful levels of alcohol intake; b) we found no clear evidence of risk drinking among younger persons; this will require questioning about their week-end drinking habits; c) risk drinkers know the limits of consumption that can damage their health, but their alcohol consumption is incongruent with this knowledge.

¿Conocen las personas consultantes de nuestro centro de salud cuánto consumo de alcohol pueder ser perjudicial para la salud? / Do persons who come to our health center know how much drinking is bad for their health?

Objetivos. a) Averiguar el conocimiento que tienen nuestros pacientes sobre el consumo excesivo de alcohol; b) comparar dicho conocimiento con el consumo habitual. Diseño. Estudio descriptivo transversal, aleatorizado, mediante cuestionario, en el que se recogieron también los datos de consumo de las historias. Emplazamiento. Atención primaria. Centro de Salud de Chantrea. Participantes. Un total de 351 personas consultantes, mayores de 14 años. Mediciones. Unidades de alcohol diarias que cada entrevistado considera límite perjudicial, y unidades de alcohol que figuran en sus historias como consumo habitual. Resultados. Hay una buena percepción de los problemas asociados al consumo excesivo, especialmente entre las mujeres. En general, hay buen conocimiento sobre las cantidades de alcohol perjudiciales, incluyendo a los bebedores excesivos. Aunque en jóvenes la tendencia es elevar el límite por encima de lo recomendado, hemos encontrado en ellos un bajo consumo y un llamativo subregistro de éste. Al comparar el límite que cada persona establece como perjudicial y su consumo, se aprecia que, en general, se consume en relación a lo que se cree perjudicial, aunque el 10 por ciento de la muestra bebe por encima de los límites marcados por ellos mismos; el 80 por ciento de los bebedores de riesgo de la muestra están incluidos en este grupo. Conclusiones a) Parece necesario aumentar la información a los jóvenes sobre los límites perjudiciales; b) no detectamos bien el consumo de riesgo en jóvenes, por lo que es necesario preguntar sobre el consumo durante el fin de semana; c) los bebedores de riesgo conocen dónde están los límites del consumo perjudicial, pero consumen de forma incongruente con este conocimiento (AU)

Fruit load and canopy shading affect leaf characteristics and net gas exchange of 'Spring' navel orange trees.

Five-year-old 'Spring' navel (Citrus sinensis (L.) Osbeck) orange trees were completely defruited, 50% defruited or left fully laden to study effects of fruit load on concentrations of nitrogen (N) and carbohydrate, net assimilation of CO2 (Ac) and stomatal conductance (gs) of mature leaves on clear winter days just before fruit harvest. Leaves on defruited trees were larger, had higher starch concentrations and greater leaf dry mass per area (LDMa) than leaves on fruited trees. Both Ac and gs were more than 40% lower in sunlit leaves on defruited trees than in sunlit leaves on trees with fruit. Leaves immediately adjacent to fruit were smaller, had lower leaf nitrogen and carbohydrate concentrations, lower LDMa and lower Ac than leaves on non-fruiting branches of the same trees. Removing half the crop increased individual fruit mass, but reduced fruit color development. Half the trees were shaded with 50% shade cloth for 4 months before harvest to determine the effects of lower leaf temperature (Tl) and leaf-to-air vapor pressure difference on leaf responses. On relatively warm days when sunlit Tl > 25 degrees C, shade increased Ac and gs, but had no effect on the ratio of internal to ambient CO2 (Ci/Ca) concentration in leaves, implying that high mesophyll temperatures in sunlit leaves were more important than gs in limiting Ac. Sunlit leaves were more photoinhibited than shaded leaves on cooler days when Tl < 25 degrees C. Shade decreased total soluble sugar concentrations in leaves, but had no effect on leaf starch concentrations. Shading had no effects on canopy volume, yield or fruit size, but shaded fruit developed better external color than sun-exposed fruit. Overall, the presence of a normal fruit crop resulted in lower foliar carbohydrate concentrations and higher Ac compared with defruited trees, except on warm days when Ac was reduced by high leaf temperatures.

[Referral to endocrinology because of thyroid pathology. Quality and justification]. / Derivación a endocrinología por patología tiroidea. Calidad y justificación.

OBJECTIVES: To describe the content of the form for referring patients to endocrinology because of thyroid pathology, to compare this form with the specialist report and to analyse the justification for the referral and its association with its origin. DESIGN: Descriptive. SETTING: Primary/specialist care. PARTICIPANTS: All the patients (412) referred to 4 endocrinology clinics for undefined thyroid pathology. RESULTS: 81% of the 273 cases without history on the form had this history in the report. The symptoms were recorded more often in the report than on the form except for local compression (23 cases, of which the endocrinologist confirmed 5). 59.3% of the forms included the analysis results, and 31% the physical examination of the thyroid. Consistency, size and nodularity of the goitre were only indicated in a minority of forms. Diagnostic concordance was low (kappa = 31%). 15.2% were cases of simple goitre. Cases whose referral according to an established protocol was justified amounted to 51% when the reason was taken into account, and 39% when the diagnosis was taken into account. These figures bore no relation to the zone or centre originating the referral. Most patients, including those whose referral was not necessary, had further tests (PAAF, echography, gammagraphy). CONCLUSIONS: Compliance with the form is insufficient, although it is difficult to decide if this implies incorrect handling of the patient. Physical examination of the thyroid needs to be improved. The referral of many patients is not justifiable, although the pathology that predominates is one that may pose diagnostic difficulties without the specific examinations that are in fact requested in the specialist clinics.

Derivación a endocrinología por patología tiroidea. Calidad y justificación / Referral to endocrinology because of thyroid pathology. Quality and justification

Objetivo. Describir el contenido del volante de derivación a endocrinología por patología tiroidea, compararlo con el informe de especializada y analizar la justificación de la remisión y su asociación con su procedencia. Diseño. Descriptivo. Emplazamiento. Atención primaria/especializada. Participantes. Todos los pacientes (412) derivados a 4 consultas de endocrinología por patología tiroidea no conocida. Resultados. Un 81 por ciento de los 273 casos que no presentan antecedentes en el volante los tiene en el informe. Los síntomas son recogidos en más ocasiones en el informe que en el volante, excepto la compresión local (23 casos, de los que el endocrinólogo confirma 5). Un 59,3 por ciento de los volantes incluía la analítica y el 31 por ciento la exploración física tiroidea. La consistencia, tamaño y nodularidad del bocio sólo es señalada en una minoría de volantes. La concordancia diagnóstica es baja (kappa, 31 por ciento). Un 15,2 por ciento de los casos corresponde a bocio simple. Los casos cuya derivación según un protocolo establecido está justificada son el 51 por ciento considerando el motivo y un 39 por ciento considerando el diagnóstico. Estos porcentajes no se asocian a la zona o centro de procedencia. La mayoría de los pacientes, incluyendo aquellos cuya derivación no era procedente, son sometidos a pruebas complementarias (PAAF, ecografía, gammagrafía). Conclusiones. La cumplimentación del volante es insuficiente, aunque es difícil determinar si implica un manejo inadecuado del paciente. La exploración física del tiroides debe mejorarse. La derivación de muchos pacientes no está justificada, aunque predomina la patología que puede plantear dificultad sin acceso a exploraciones específicas que, de hecho, son solicitadas en la consulta especializada (AU)

Ovarian follicular wave synchronization and induction of ovulation in postpartum beef cows.

An experiment was designed to evaluate a) the effect of a progesterone-estradiol combined treatment on ovarian follicular dynamics in postpartum beef cows, and b) ovulation and the subsequent luteal activity after short-term calf removal and GnRH agonist treatment. Multiparous Angus cows (25 to 40 d after calving) were assigned to the following treatments: untreated (Control, n = 9); short term calf removal (CR, n = 8); progesterone (CIDR, n = 9) and progesterone plus estradiol-17 beta (CIDR + E-17 beta, n = 9). Progesterone treatment (CIDR) lasted 8 d and the day of device insertion was considered as Day 0. Cows in the CIDR + E-17 beta group also received an i.m. injection of 5 mg of E-17 beta on Day 1. On Day 8, calves were removed for 48 h (CR, CIDR and CIDR + E-17 beta groups) and 6 h before the end of calf removal these cows also received an i.m. injection of 8 micrograms of Busereline (GnRH). Anestrus was confirmed in all cows by the absence of luteal tissue and progesterone concentrations below 1 ng ml-1 at the beginning of the experiment. Although mean (+/- SEM) interval from the beginning of the experiment (Day 0) to wave emergence did not differ (P > 0.05) among treatment groups (Control, 1.9 +/- 1.0, range -2 to 7 d; CR, 3.9 +/- 0.7, range 0 to 6 d; CIDR, 2.8 +/- 0.5, range 0 to 4 d and CIDR + E-17 beta, 4.1 +/- 0.2, range 3 to 5), the variability was less (P < 0.05) in the CIDR + E-17 beta group. The proportion of cows ovulating 24 to 48 h after GnRH administration tended (P = 0.08) to be higher in cows from CIDR + E-17 beta group (8/9) than in those of CR (5/8) or CIDR (6/9) groups, respectively and was associated with a higher proportion (P < 0.05) of CIDR + E-17 beta treated cows (9/9) that had a dominant follicle in the growing/early static phase at the time of GnRH treatment compared to the other GnRH treated groups (5/8, and 4/9 for CR and CIDR groups, respectively). Two CR cows ovulated 0-24 h after GnRH and only one Control cow ovulated the day before the time of GnRH administration. Cows pretreated with progesterone had longer (P < 0.05) luteal lifespan (CIDR, 14.5 +/- 0.7, CIDR + E-17 beta, 13.9 +/- 0.6 d) than those not treated with CIDR (Control, 5, CR, 4.0 +/- 0.4). We conclude that progesterone plus estradiol treatment results in tightly synchronized wave emergence and high GnRH-induced ovulation rate with normal luteal activity in postpartum beef cattle.

[Neonatal convulsions in health care. II. Prognostic factors]. / Convulsiones neonatales en un área de salud. II. Factores pronósticos.

OBJECTIVE: To determine whether neonatal convulsions make up a homogeneous pathological group when it comes to establishing indices of prognosis. DESIGN: Descriptive study of retrospective cohorts. SCOPE: Twenty five cases of neonatal convulsions out of the 12,427 new born babies in the province of Albacete in the period 1991-1993 and the follow-up of their development up to December 1994. MATERIAL AND METHODS: Univariant analysis (variable dependent evolution; variable independent: type of crisis identified, interictal clinical features, EEG pattern and cerebral Eco-CT/MR) and multivariant analysis using a maximal logistic regression model. RESULTS: I. Univariant analysis. Type of crisis: we found differences between the types of crises presented (clonic, focal tonic, myoclonic, subtile with apnea, with no obvious crisis) and the prognosis, but no significant result. Neurological findings between crises: the RN who showed no change in consciousness following the convulsion had a better prognosis than those with changes in the level of consciousness between crises. The difference was significant (P = 0.03). Post-critic EEG pattern. The RN with a normal or a focal EEG were grouped together as opposed to those who showed alterations which were multifocal, had changes in the basic rhythm, were paroxysmal or of low voltage; the first type of EEG indicated the best prognosis (OR = 12.0; IC 95%; 1.1-159.5; p = 0.2). Radiodiagnosis: the RN with no changes on Eco or CT-RM had better prognoses (p > 0.001) than those with pathological ones. None had pathological sequelae (OR = 0.0). II. Multivariant analysis. The final method only retained the variable Rx (Radiodiagnosis) which implied that the other variables lost significance when corrected for association with Rx (p < 0.001) OR = 0.0. DISCUSSION: Although the clinical and EEG findings are indicators of prognosis, they lose their significance when correction is made for the underlying cerebral damage. The cause of the convulsions and the associated underlying cerebral lesion is the most important factor in determining the final outcome.

Effect of aluminum and lead salts on lipid peroxidation and cell survival in human skin fibroblasts.

The aim of this study was to see whether aluminum (Al) and lead (Pb) salts are toxic for cultured human fibroblasts under different experimental conditions, in the controllable situation offered by cell cultures. Cell survival and membrane lipid peroxidation served as markers of Al and Pb toxicity. Evaluation of the living cells was carried out using a colorimetric method, the mitochondrial reduction of 1-(4,5-dimethylthiazol-2-yl)-2,5-diphenyl tetrazolium bromide (MTT). Lipoperoxidation assay was performed on whole cell homogenates by measuring thiobarbituric acid-reactive substances (TBARS) produced after incubation with ascorbic acid-ferrous sulfate. Al(III) and Pb(II) salts (300 microM) produce a considerable decrease in cell survival after an exposure period of 4d, evident with the three fetal calf serum concentrations in the culture media: 2, 5, and 10%. Taking into account in vitro cell aging, the cytotoxic effects of Al(III) and Pb(II) are greater in senescent fibroblasts than in young cells. Lead-induced cytotoxicity is higher than Al-induced cytotoxicity. A mechanism that contributes to cellular toxicity is membrane lipid peroxidation; our results demonstrate that Al(III) and Pb(II) ions, 400 microM, exert an antioxidant-like effect or a pro-oxidant action on cell membranes depending on exposure time. We describe significant increases in TBARS formation associated with the presence of 400 microM Al(III) or Pb(II) salts in the culture media. Our study also revealed that these heavy metals induce a cell age-dependent action on membrane lipoperoxidation that is greater in senescent fibroblasts and this could have severe consequences for maintenance of cellular integrity.