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1.
Pediatrics ; 152(3)2023 09 01.
Article in English | MEDLINE | ID: mdl-37539482

ABSTRACT

Prader-Willi syndrome (PWS) is a genetic hormonal disorder of the hypothalamic-pituitary-axis resulting in mental retardation, muscle hypotonia, hypogonadism, and hyperphagia leading to significant obesity. Cardiovascular morbidity and mortality in adult patients with PWS is higher than in healthy controls and mainly secondary to massive obesity. In childhood, mortality may result from respiratory or gastrointestinal illnesses. We present a case of a 10-year-old boy with PWS who experienced recurrent and asymptomatic episodes of sinus pauses caused by the ingestion of large gulps of apple juice, which could be provoked and reproduced. The asystoles could not be provoked by any other vagal maneuvers and an initial diagnostic workup revealed no indication for structural heart disease. Because of the asymptomatic character of the asystoles, no treatment was initially provided. When he re-presented 3 months later after a clinically relevant syncope at school, pacemaker therapy was initiated, and he has demonstrated no subsequent sinus pauses or syncopes. Regarding the rising awareness of subtle cardiac alterations including autonomic dysfunction and electrocardiogram changes in young patients with PWS and especially the occurrence of unexplained sudden deaths in childhood that may be precipitated by arrhythmia, we suggest that the utility of periodic screening for arrhythmia risk should be evaluated in children with PWS.


Subject(s)
Heart Arrest , Intellectual Disability , Prader-Willi Syndrome , Child , Male , Adult , Humans , Prader-Willi Syndrome/complications , Prader-Willi Syndrome/diagnosis , Prader-Willi Syndrome/genetics , Obesity/complications , Intellectual Disability/complications
2.
Eur J Emerg Med ; 28(4): 299-305, 2021 Aug 01.
Article in English | MEDLINE | ID: mdl-33833138

ABSTRACT

BACKGROUND AND IMPORTANCE: Differences between men and women visiting the emergency department (ED) with nonsurgical complaints have mostly been investigated in small, diagnosis-based subpopulations. OBJECTIVE: This study investigated sex-differences in an unselected cohort of nonsurgical ED patients. DESIGN: Secondary data of all patients attending two EDs of the Charité, Universitätsmedizin Berlin collected in the framework of their medical evaluation was reviewed. SETTINGS AND PARTICIPANTS: Within a 1-year-period all 34 333 adult internal patients presenting to one of the two EDs were included and analysed. OUTCOMES MEASURE AND ANALYSES: Sex-stratified descriptive analysis of the in-hospital course and outcome of the ED patients was performed as primary endpoint. Admission data, ED processes and diagnoses were analyzed as secondary endpoints. MAIN RESULTS: A total of 51.2% of all patients were women. Women were slightly younger (median 56 years vs. men 58 years; P < 0.001) and presented more frequently with abdominal pain and headache. Men rather showed chest pain and dyspnea. Accordingly, women had more gastroenterological diseases; men were more often diagnosed with cardiological and pneumological diseases. Women were less frequently admitted for inpatient treatment [35.3 vs. men 43.7%; difference 8.4 percentage points (95% confidence interval (CI), 7.3-9.4)] and intensive care treatment [5.8 vs. men 9.0%; difference 3.2 percentage points (95% CI, 2.7-3.8)]. Inpatient-mortality did not show significant sex differences [4.6 women vs. 4.8% men; difference 0.2 percentage points (95% CI, -0.6 to 0.8)]. CONCLUSIONS: There are significant differences in characteristics, symptoms, diagnoses and clinical course between men and women. Further investigations could identify causes and measures like sex-specific algorithms for ED-work processes.


Subject(s)
Data Analysis , Emergency Service, Hospital , Adult , Chest Pain , Female , Hospitalization , Humans , Male , Sex Factors
3.
Gac. sanit. (Barc., Ed. impr.) ; 35(1): 48-59, ene.-feb. 2021. tab
Article in Spanish | IBECS | ID: ibc-202095

ABSTRACT

OBJETIVO: Comprender a qué modelos teóricos se ajusta la práctica actual de la prevención primaria y promoción de la salud en atención primaria de salud en diferentes centros de salud de siete comunidades autónomas de España, según los/las profesionales de distintas disciplinas de este ámbito asistencial. MÉTODO: Investigación cualitativa descriptiva en la que participaron 145 profesionales de 14 centros de salud de siete comunidades autónomas de España. El muestreo fue teórico. Se realizaron 14 grupos de discusión. El análisis de datos se realizó siguiendo procedimientos del análisis de contenido temático y de acuerdo con siete modelos teóricos de promoción de la salud a nivel micro, meso y macro. RESULTADOS: Las prácticas de los profesionales de los centros participantes en relación con las actividades de prevención primaria y promoción de la salud se adhieren principalmente a modelos intrapersonales, centrándose en ayudar a que las personas se empoderen aumentando la conciencia de riesgo y de los beneficios del cambio en los comportamientos, y guiándolas en la implementación de un comportamiento saludable. Algunos/as profesionales realizan actividades que encajan en modelos interpersonales, implicando a la familia y al propio profesional en las estrategias. Solo en algunos casos las prácticas actuales encajan en modelos comunitarios de promoción de la salud. CONCLUSIONES: Las prácticas de prevención primaria y promoción de la salud de los profesionales de atención primaria siguen principalmente modelos intrapersonales, en algunos casos modelos interpersonales y más puntualmente modelos comunitarios. Es necesario potenciar la participación de la ciudadanía y la orientación comunitaria de los servicios de atención primaria de salud


OBJECTIVE: To understand which theoretical models apply to current primary care practice of primary prevention and health promotion in a sample of primary health centres of seven autonomous regions in Spain according to the various professionals involved. METHOD: Descriptive qualitative research with the participation of 145 professionals from 14 primary health centres of seven autonomous regions in Spain. Theoretical sampling was used and 14 discussion groups were carried out. Data analysis followed thematic contents analysis procedures and was based on seven health promotion theoretical models at micro-, meso- and macro-level. RESULTS: Current practice of primary prevention and health promotion activities mainly follow intrapersonal models, which focus on assisting the empowerment of patients by means of raising awareness of risk and benefits of behavioural change and on guiding the adoption of the new healthy behaviour. To a lesser degree, the activities of some professionals adhere to interpersonal models, which involve also the family and the health professional. In only a few instances community models of health promotion were used. CONCLUSIONS: Primary prevention and health promotion practice of primary healthcare professionals follow mainly intrapersonal models, few cases use interpersonal models and community models are only occasionally employed. Advance of public participation and community orientation in primary healthcare services is needed


Subject(s)
Humans , Models, Theoretical , Health Promotion/methods , Primary Health Care , Professional Practice , Primary Prevention/methods , Primary Prevention/statistics & numerical data , Qualitative Research , Focus Groups
4.
Neuropediatrics ; 52(5): 398-402, 2021 10.
Article in English | MEDLINE | ID: mdl-33445193

ABSTRACT

Cytosolic phosphoenolpyruvate carboxykinase (PEPCK) deficiency (MIM 261680, EC 4.1.1.32, encoded by PCK1) is a rare disorder of gluconeogenesis presenting with recurrent hypoglycemia, hepatic dysfunction, and lactic acidosis. We report on a previously healthy 3-year-old boy who was initially admitted under the suspicion of a febrile seizure during an upper airway infection. Diagnostic workup revealed hypoglycemia as well as a cerebral edema and ruled out an infection. After a complicated course with difficult to treat symptomatic seizures, the child died on the 5th day of admission due to progressive cerebral edema. The metabolic screening showed elevated urinary lactate and Krebs cycle intermediates in line with a primary or secondary energy deficit. Due to the unclear and fatal course, trio exome sequencing was initiated postmortem ("molecular autopsy") and revealed the diagnosis of cytosolic PEPCK deficiency based on the compound heterozygosity of a known pathogenic (c.925G > A, p.(Gly309Arg)) and a previously unreported (c.724G > A, p.(Gly242Arg)) variant in PCK1 (NM_002591.3). Sanger sequencing ruled out the disease and carrier status in three older brothers. Molecular autopsy was performed due to the unclear and fatal course. The diagnosis of a cytosolic PEPCK deficiency not only helped the family to deal with the grief, but especially took away the fear that the siblings could be affected by an unknown disease in the same manner. In addition, this case increases the genetic and phenotypic spectrum of cytosolic PEPCK deficiency.


Subject(s)
Carbohydrate Metabolism, Inborn Errors , Hypoglycemia , Liver Diseases , Carbohydrate Metabolism, Inborn Errors/complications , Child , Child, Preschool , Humans , Hypoglycemia/complications , Hypoglycemia/genetics , Liver Diseases/complications , Male , Phosphoenolpyruvate Carboxykinase (GTP)/deficiency , Seizures/complications , Seizures/genetics
6.
Transl Pediatr ; 10(11): 3110-3117, 2021 Nov.
Article in English | MEDLINE | ID: mdl-34976778

ABSTRACT

Takotsubo cardiomyopathy is characterized by acute and reversible severe left ventricular dysfunction due to intensive emotional or physical stress followed by catecholamine excess. Traditionally it is most common in postmenopausal women, whereas only few cases have been described in childhood. In our case a previously well 12-year-old boy presented with severe cardiogenic shock due to dramatically impaired left ventricular function requiring significant inotropic support and invasive mechanical ventilation. Interestingly, cardiac catheterization, myocardial tissue histology and biochemical laboratory tests did not yield a definitive diagnosis. As his cardiac function improved gradually within several days and deep sedation could be weaned, he was then found to suffer from hemiparesis and absence of protective airway reflexes on neurological examination during the weaning process. Subsequent brain imaging studies revealed a brainstem bleeding due to a fistulous arteriovenous malformation (AVM) appearing to be only a few days old. After endovascular coiling and subsequent microsurgical resection of the malformation, he recovered completely. Our present case demonstrated, that brainstem bleeding could precipitate Takotsubo cardiomyopathy manifesting hemodynamic collapse. Severe ventricular impairment has been described in many adults with subarachnoid hemorrhage; however, this condition is extremely rare among children. When severe cardiogenic shock is diagnosed, precipitating factors such as intracranial processes should be ruled out on a regular basis.

7.
Enferm. clín. (Ed. impr.) ; 22(3): 144-147, mayo-jun. 2012. tab
Article in Spanish | IBECS | ID: ibc-105194

ABSTRACT

Objetivo Evaluar los cambios en los hábitos de alimentación y actividad física así como la prevalencia de obesidad y sobrepeso que se han producido en una cohorte de alumnos entre 1° y 4° de secundaria tras una intervención no estructurada de educación para la salud. Método Estudio descriptivo longitudinal. Se recogieron variables antropométricas y de hábitos de alimentación, ocio y actividad física a los alumnos de 1° de ESO (n=61) y se midieron de nuevo cuando cursaban 4° de ESO. Se realizo un analisis apareado de los datos mediante el test Mc Nemar-Bowker. Durante el periodo de estudio se realizaron sesiones educativas sobre alimentación saludable y actividad física. Resultados La prevalencia de sobrepeso ha mejorado significativamente (de 14,8% a 3,7%) y se ha incrementado el nivel de actividad física. No se han detectado cambios en la calidad del desayuno ni en la calidad de la dieta mediterránea. Conclusiones Algunos de los aspectos estudiados han mejorado sin poderse atribuir esa mejora a las sesiones educativas realizadas. Conocer y analizar los hábitos de vida saludable de los adolescentes permitirá planificar intervenciones realistas, adaptadas al entorno concreto, estructuradas y continuadas en el tiempo, que aborden las áreas de conocimientos, habilidades y emociones y que vayan dirigidas no sólo a los jóvenes sino también a sus familias, al entorno interno del centro educativo y a la coordinación de los recursos comunitarios que permita un abordaje coordinado (AU)


Objective To evaluate the changes in dietary habits and physical activity, as well as the prevalence of obesity and overweight that have occurred in a cohort of 1st and 4th year secondary school pupils after non-structured health education activities. Method A descriptive, longitudinal study, in which anthropometric variables, dietary habits, leisure and physical activity were collected in the 1st year secondary school pupils (n=61), and they were measured again when they were in the 4th year. The differences between the two school years were analysed using the Mc Nemar-Bowker Test. During the period of the study educational sessions were given on healthy eating and physical activity. Results The prevalence of overweight decreased significantly (from 14.8% to 3.7%) and the level of physical activity has increased. No statistical differences were detected in the quality of breakfast or in the quality of the Mediterranean diet. Conclusions Some of the aspects studied have improved without being able to attribute this improvement to the educational sessions given. To determine and analyse the healthy living habits of adolescents would enable us to plan realistic interventions, adapted to the particular environment. They should be structured and continuous over time and approach areas of knowledge, skills and emotions, and directed, not only at the young people, but also their families, the internal environment of the educational centre. There should be coordination of community resources in order to make a coordinated approach (AU)


Subject(s)
Humans , Male , Female , Adolescent , Feeding Behavior , Motor Activity , Obesity/epidemiology , Healthy Lifestyle , Sedentary Behavior , Body Weights and Measures/statistics & numerical data
8.
Enferm Clin ; 22(3): 144-7, 2012.
Article in Spanish | MEDLINE | ID: mdl-22578872

ABSTRACT

OBJECTIVE: To evaluate the changes in dietary habits and physical activity, as well as the prevalence of obesity and overweight that have occurred in a cohort of 1st and 4th year secondary school pupils after non-structured health education activities. METHOD: A descriptive, longitudinal study, in which anthropometric variables, dietary habits, leisure and physical activity were collected in the 1st year secondary school pupils (n=61), and they were measured again when they were in the 4th year. The differences between the two school years were analysed using the Mc Nemar-Bowker Test. During the period of the study educational sessions were given on healthy eating and physical activity. RESULTS: The prevalence of overweight decreased significantly (from 14.8% to 3.7%) and the level of physical activity has increased. No statistical differences were detected in the quality of breakfast or in the quality of the Mediterranean diet. CONCLUSIONS: Some of the aspects studied have improved without being able to attribute this improvement to the educational sessions given. To determine and analyse the healthy living habits of adolescents would enable us to plan realistic interventions, adapted to the particular environment. They should be structured and continuous over time and approach areas of knowledge, skills and emotions, and directed, not only at the young people, but also their families, the internal environment of the educational centre. There should be coordination of community resources in order to make a coordinated approach.


Subject(s)
Feeding Behavior , Motor Activity , Adolescent , Female , Humans , Longitudinal Studies , Male , Obesity/epidemiology , Overweight/epidemiology , Schools , Spain/epidemiology
9.
Enferm. clín. (Ed. impr.) ; 20(2): 88-96, mar.-abril. 2010. ilus, tab
Article in Spanish | IBECS | ID: ibc-80766

ABSTRACT

ObjetivoIdentificar las prioridades de investigación en cuidados de salud en España, desde la perspectiva de los profesionales de enfermería y de los usuarios de los servicios de salud.MétodoTécnica Delphi modificada desarrollada sobre un listado de 24 ítems identificados a partir del consenso previo de un grupo de trabajo. El panel de expertos participantes en la técnica Delphi modificada (2 vueltas) se compuso de cinco grupos: directores de enfermería (Atención Primaria y Hospitalaria), directores de escuelas de enfermería, presidentes de asociaciones científicas de enfermería, investigadores asistentes a los Encuentros de Investigación organizados por Investén-ISCIII, y representantes de usuarios. Se realizaron dos rondas de priorización.ResultadosTras el consenso de los partipantes, fueron consideradas como principales prioridades de investigación en cuidados: «la evaluación de la eficacia de intervenciones de enfermería», «la promoción de la salud: desarrollo de estrategias para implicar al usuario en sus cuidados», «cuidados basados en la evidencia: implantación y evaluación de resultados en la práctica clínica», y «medición de la calidad de cuidados enfermeros».ConclusionesLos resultados obtenidos a través de este estudio pueden contribuir a facilitar la toma de decisiones en materia de gestión de la investigación, ayudando a una mejor justificación y, previsiblemente, mayor financiación de los proyectos de investigación en esta área (AU)


ObjectiveTo identify nursing research priorities in Spain as suggested by nurses and service users.MethodA Modified Delphi technique was used. The first round started off with a 24-item document for which consensus had been previously achieved. Experts participating in this modified (two rounds) Delphi technique were: nursing managers (community and hospital care settings), nursing school directors, scientific nursing association representatives, nursing researchers attending the National Nursing Research Conference, and service users.ResultsMain priorities identified for nursing research were: 1) evaluating the effectiveness of nursing interventions, 2) identifying strategies for health promotion empowering service users, 3) developing evidence-based care through implementing and evaluating results, and 4) evaluating the quality of nursing care.ConclusionsResults may help research managers and administrators identify and develop nursing research promotion strategies as well as more strongly sustained funding policies and decisions(AU)


Subject(s)
Nursing Research/organization & administration , Nursing Research/statistics & numerical data , Spain , Delphi Technique
10.
Enferm Clin ; 20(2): 88-96, 2010.
Article in Spanish | MEDLINE | ID: mdl-20189424

ABSTRACT

OBJECTIVE: To identify nursing research priorities in Spain as suggested by nurses and service users. METHOD: A Modified Delphi technique was used. The first round started off with a 24-item document for which consensus had been previously achieved. Experts participating in this modified (two rounds) Delphi technique were: nursing managers (community and hospital care settings), nursing school directors, scientific nursing association representatives, nursing researchers attending the National Nursing Research Conference, and service users. RESULTS: Main priorities identified for nursing research were: 1) evaluating the effectiveness of nursing interventions, 2) identifying strategies for health promotion empowering service users, 3) developing evidence-based care through implementing and evaluating results, and 4) evaluating the quality of nursing care. CONCLUSIONS: Results may help research managers and administrators identify and develop nursing research promotion strategies as well as more strongly sustained funding policies and decisions.


Subject(s)
Nursing Research/organization & administration , Nursing Research/statistics & numerical data , Delphi Technique , Spain
11.
Rev Esp Salud Publica ; 76(5): 531-43, 2002.
Article in Spanish | MEDLINE | ID: mdl-12422427

ABSTRACT

BACKGROUND: The primary care reform (PCR) has give rise to some major changes in the nursing profession. The objectives of this study are to analyze the achievements made by the nurses, to identify the problems they currently have in primary care and to suggest some lines along which work can be done for the future. METHOD: Qualitative research (focal group method). Eight groups were made segmented by occupational category and the position held. Scope of the analysis: the role of nurses, services supply and organization, participation and management, marketing and training. RESULTS: In the opinion of those surveyed, the PCR has entailed a broadening of the nurses' skills, although their role is still well-defined. The nurses are of the opinion that there is no listing of services inherent to nursing despite the leading role they obviously play in home care and health education. The need has been identified of assess the existing health programs in terms of results. Concerning to health services organization, main problems were related to the lack of adapting staffing in keeping with the rise in population and difficulties of internal communications within the health professional teams and the very small degree to which nursing services are disseminated. The need is felt of broadening pre-diploma training with regard to some subjects (health education) and skills (teamwork). CONCLUSIONS: Although the PCR has meant improvements for the nurses, solutions have as yet to have been provided to some aspects (including defining a listing of services, adapting staffing, internal communications, marketing, training) and given the opportunity the transferring of authorities over health care entail, further progress must be made toward innovative proposals to improve the health services.


Subject(s)
Focus Groups , Primary Nursing/standards , Quality Assurance, Health Care , Health Care Reform , Humans , Nurse's Role , Qualitative Research , Spain
12.
Rev. esp. salud pública ; 76(5): 531-543, sept. 2002.
Article in Es | IBECS | ID: ibc-19284

ABSTRACT

Fundamento. La reforma de la atención primaria (RAP) ha dado lugar a mejoras importantes en la profesión enfermera. Objetivos del estudio: analizar los logros obtenidos por las enfermeras, identificar los problemas que tienen actualmente en atención primaria y proponer líneas de trabajo para el futuro. Método: Investigación cualitativa (técnica del grupo focal). Se realizaron ocho grupos segmentados según la categoría profesional y el puesto desempeñado. Dimensiones de análisis: rol de la enfermera, oferta y organización de servicios, participación y gestión, marketing y formación. Resultados: Para los entrevistados, la RAP ha supuesto una ampliación de las competencias de las enfermeras, aunque su rol sigue sin estar bien definido. Consideran que no existe una cartera de servicios propia de enfermería, a pesar de su claro protagonismo en atención domiciliaria y educación para la salud. Se ha identificado la necesidad de revisar, en términos de resultados, los programas de salud existentes. Se comentan dificultades relacionadas con la falta de ajuste de las plantillas en relación con el incremento poblacional. Destacan problemas de comunicación interna en los equipos y la escasa la difusión de los servicios de enfermería. Se percibe la necesidad de ampliar la formación pregrado en algunos contenidos (educación para la salud) y habilidades (trabajo en equipo).Conclusiones: Si bien la RAP ha supuesto mejoras para las enfermeras, quedan aspectos por resolver (definición de cartera de servicios, ajuste de plantillas, comunicación interna, marketing, formación, entre otros) y dada la oportunidad que representan las transferencias sanitarias hay que avanzar hacia propuestas innovadoras para mejorar los servicios de salud (AU)


Background: The primary care reform (PCR) has give rise to some major improvements in the nursing profession. The objectives of this study are to analyze the achievements made by the nurses, to identify the problems they currently have in primary care and to suggest some lines along which work can be done for the future. Method: Qualitative research (focal group method). Eight groups were made segmented by occupational category and the position held. Scope of the analysis: the role of nurses, services supply and organization, participation and management, marketing and training. Results: In the opinion of those surveyed, the PCR has entailed a broadening of the nurses' skills, although their role is still well-defined. The nurses are of the opinion that there is no listing of services inherent to nursing despite the leading role they obviously play in home care and educating health education. The need has been identified of assess the existing health programs in terms of results. Concerning to health services organization, main problems were related to the lack of adapting staffing in keeping with the rise in population and difficulties of internal communications within the health professional teams and the very small degree to which nursing services are disseminated. The need is felt of broadening pre-diploma training with regard to some subjects health education) and skills (teamwork). Conclusions: Although the PCR has meant improvements for the nurses, solutions have as yet to have been provided to some aspects (including defining a listing of services, adapting staffing, internal communications, marketing, training ) and given the opportunity the transferring of authorities over health care entail, further progress must be made toward innovative proposals to improve the health services (AU)


Subject(s)
Humans , Quality Assurance, Health Care , Spain , Health Care Reform , Primary Nursing , Qualitative Research , Nurse's Role
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