Síndrome de Turner: mosaicismo 45, X/46, XX y sus implicaciones clínicas / Turner's Syndrome: mosaicism 45, X / 46, XX and its clinical implications

El objetivo de este manuscrito es conocer cuál sería la actitud a seguir frente a un mosaico para monosomía X y sus repercusiones clínicas a partir de un caso de mosaicismo residual diagnosticado en nuestro centro. El síndrome de Turner o monosomía X es la aneuploidía más prevalente de los cromosomas sexuales, presenta gran variedad fenotípica condicionada por múltiples genotipos, entre los que destaca el mosaicismo, presente en hasta la mitad de los casos. Un correcto diagnóstico genético es fundamental para un adecuado consejo clínico y para optimizar el manejo de cada caso ya que las repercusiones clínicas y su evolución son muy variables (AU)

The aim of this article is to know what should be the attitude we should continue with a mosaic monosomy X and its clinical consequences on the basis of a case diagnosed in our hospital. Turner syndrome or monosomy X is the most common sexual chromosomes' aneuploidy, can make a lot of phenotypic variations conditioned by multiple genotypes that may occur, especially mosaicism, present in up to half of cases. Appropriate genetic diagnosis is essential for proper and appropriate genetic counseling to optimize the management of each case, as the clinical implications and evolution are highly variable (AU)

[Cancer diagnosis: do we want to know the truth?]. / Diagnóstico: cáncer. 'Queremos conocer la verdad?

OBJECTIVE: To find people's desire for information and their other attitudes when faced with a cancer diagnosis. DESIGN: Transversal, descriptive study. SETTING: Irun, Oñati and Asteasu Health Centres, Gipuzkoa, Spain. PARTICIPANTS: From the appointments for 19 clinics in March-May 2002, a randomised, prospective and systematic sample, stratified by lists, was extracted (n=725). A modified Fernández Díaz questionnaire was administered. It had personal details and 8 questions with closed replies on aspects of communication (5) and attitudes to death (3). RESULTS: 81.3% (95% CI, 78.4-84.1) wanted to know their diagnosis. 68.9% (95% CI, 65.5-72.2) chose the doctor to tell them. Of these, 36.6% chose the specialist and 26.6%, the general practitioner. If the person affected was a family member, 46.6% (95% CI, 42.9-50.2) would always tell the person; 38.6% (95% CI, 35-42.1), only if the person asked; and 9.6%, never (95% CI, 7.4-11.7). 49.3% (95% CI, 45.6-52.9) would prefer to die at home. The greatest fear for 44% (95% CI, 40.3-47.6) was pain. CONCLUSIONS: Most people want to be informed of their diagnosis. Neither an urban or rural environment nor having had family members with cancer affects their view. If the person affected by cancer is a family member, very few people favour not telling him/her at all. Sufferers want the doctor to tell them the information, prefer to die at home and pain is what worries them most.

[Anti-smoking specialist medical prescription or medical counseling in primary care: opinions from the other side of the table]. / Prescripción facultativa o consejo médico antitabaco en atención primaria: opiniones desde el otro lado de la mesa.

OBJECTIVES: To estimate the frequency, characteristics and follow-up of anti-smoking counseling given to patients using a primary care facility; to survey patient opinion of anti-smoking advice offered. MATERIAL AND METHODS: Cross-sectional, descriptive study at a primary care facility. SUBJECTS: random sample of 330 patients between 15 and 75 years of age using the primary care facility in March and April 2000. MEASUREMENTS: confidential survey by self-administered questionnaire on smoking, chronic disease related to smoking, anti-smoking advice given and patient opinion of anti-smoking counseling by health care givers. RESULTS: The prevalence of smoking was 31.9% (100). Among patients who were either smokers or ex-smokers (162), advice to stop smoking had been received from the primary care physician by 47 patients (29.2%), from a specialist by 19 (11.8%), from a nurse by 14 (8.7%), from a pharmacist by 5 (3.1%), and from family by 34 (21.1%). We found no statistically significant differences related to gender or age for advice to stop smoking, although the presence or absence of chronic disease did affect counseling. Fifty-four (65%) of those who had been advised to quit considered that the time spent counseling was adequate. Ten patients (12%) received an informative brochure in addition to counseling. Forty smokers (40%) stated that they would quit smoking if their doctor advised them to and 45 (45%) would do so if they had a smoking-related disease. Thirty-three smokers (33%) believed that they should receive advice about smoking at all visits to the doctor, whereas 38 (38%) believed such counseling was appropriate only if the visit was for a smoking-related disease. CONCLUSIONS: The prevalence of smoking among patients who use primary care facilities is high. The frequency of advice to quit smoking is low, and reminders and follow-up are minimal. After learning a patient's habits and studying them, professional anti-smoking advice should always be given, with appropriate monitoring and follow-up.

Prescripción facultativa o consejo médico antitabaco en atención primaria: opiniones desde el otro lado de la mesa / Specialist medical prescription or medical counseling in primary care: opinions from the other side of the table

OBJETIVOS: Conocer la frecuencia, las características y el seguimiento de la prescripción sanitaria antitabaco en los pacientes que acuden a las consultas de atención primaria (AP); valorar la opinión de los pacientes sobre el consejo sanitario antitabaco recibido. MATERIAL Y MÉTODOS: Estudio descriptivo transversal realizado en AP. Sujetos: muestra aleatoria de 330 pacientes entre 15 y 75 años que acudieron a las consultas de AP durante los meses de marzo y abril de 2000. Mediciones: encuesta confidencial autoadministrada sobre hábito tabáquico, enfermedades crónicas relacionadas con el tabaco, prescripción sanitaria antitabaco recibida y opinión sobre el consejo sanitario antitabaco. RESULTADOS: La prevalencia de fumadores era del 31,9 por ciento (100). Considerando el conjunto de fumadores y ex fumadores (162), el 29,2 por ciento (47) recibió consejo antitabaco del médico de AP, 11,8 por ciento (19) del especialista, el 8,7 por ciento (14) del personal de enfermería, el 3,1 por ciento (5) del farmacéutico y el 21,1 por ciento (34) de la familia. No se encontró una relación estadísticamente significativa entre la prescripción sanitaria antitabaco y el sexo o la edad, pero sí con la presencia de una enfermedad crónica. El 65 por ciento (54) de las personas que habían recibido consejo antitabaco consideraron que el tiempo empleado en dicho consejo fue adecuado. En el 12 por ciento (10) de las ocasiones, además del consejo, se entregó un folleto informativo. El 40 por ciento de los fumadores refiere que dejaría de fumar si su médico se lo aconsejase, y el 45 por ciento lo haría si tuviese una enfermedad relacionada con el tabaco. El 33 por ciento de los fumadores opina que debe recibir prescripción sanitaria antitabaco en todas las consultas, mientras que el 38 por ciento sólo si tuviera una enfermedad relacionada con el tabaco. CONCLUSIONES: La prevalencia de fumadores que acuden a las consultas de AP es elevada. La prescripción sanitaria antitabaco es baja, su recuerdo y seguimiento son mínimos. Tras averiguar el hábito del paciente y estudiarlo, siempre efectuaremos una prescripción facultativa antitabaco, asesorando y realizando el seguimiento oportuno (AU)

Evaluación de la calidad de comunicación entre niveles asistenciales mediante el documento interconsulta / Evaluation of the quality of communication between care levels through the inter-consultation document

Objetivos. Evaluar la calidad y mejora de cumplimentación de los documentos de interconsulta en el equipo de atención primaria (EAP). Diseño. Ciclo completo de calidad. Emplazamiento. Atención primaria (AP).Componentes de la evaluación. Dimensión estudiada: calidad científico-técnica. Sujetos: todos los documentos de interconsulta (DI-1) dirigidos por los médicos de AP del centro de salud de Irún Centro a atención especializada durante 15 días, 223 DI-1 para la evaluación en abril de 1998 y 287 para la reevaluación en octubre 1998. Tipo de evaluación: retrospectiva. Fuente de datos: documentos interconsulta e historias clínicas. Criterios: explícitos y normativos. Medidas correctoras: educativas (discusión de resultados en reunión del EAP).Resultados. En la reevaluación se observó una mejoría estadísticamente significativa: datos de filiación (91,5-96,8 por ciento), legibilidad (86-92,7 por ciento), antecedentes y/o medicación habitual (35,9-50 por ciento) y sintomatología (77,8-87,2 por ciento). Por niveles de calidad se ha pasado en los buenos del 20,6 al 42,5 por ciento y en los malos del 40,8 al 33,4 por ciento. Obtuvimos respuesta en un 22,2 por ciento de nuestras derivaciones. La falta de respuesta se produce en un 34 por ciento por no haber informe del especialista, un 47,8 por ciento se atribuyen al paciente o al circuito y el 18 por ciento de los pacientes está pendiente de pruebas. Conclusiones. La información proporcionada en los DI-1 ha mejorado significativamente después del ciclo de calidad. Conocer nuestra práctica habitual de trabajo sirve como estimulo de mejora. Los criterios que peor cumplimos son: referencia a antecedentes personales y/o medicación habitual, exploración física y medidas terapéuticas empleadas. Gran perdida de información en la respuesta a nuestras derivaciones (AU)

[Evaluation of the quality of communication between levels of care through the inter-consultation document]. / Evaluación de la calidad de comunicación entre niveles asistenciales mediante el documento interconsulta.

OBJECTIVES: To evaluate the quality and improvement of compliance in the inter-consultation documents of the primary care team (PCT). DESIGN: Entire care cycle. SETTING: Primary care (PC). MEASUREMENTS: Dimension studied: scientific-technical quality. SUBJECTS: all the inter-consultation documents (ID-1) sent by PC doctors from Irun Health Centre to specialist clinics over a 15-day period. 223 ID-1 for evaluation in April 1998, and 287 for re-evaluation in October 1998. Type of evaluation: retrospective. SOURCE OF DATA: inter-consultation documents and clinical records. CRITERIA: explicit and standard. Corrective measures: educational (discussion of results in meeting of the PCT). RESULTS: A statistically significant improvement was found at the re-evaluation: basic personal details (91.5%-96.8%), legibility (86%-92.7%), medical history and/or customary medication (35.9%-50%) and symptoms (77.8%-87.2%). Good quality levels rose from 20.6% to 42.5%; and bad quality levels fell from 40.8% to 33.4%. 22.2% of our referrals received a reply. 34% of the lack of replies was because of no report from the specialist, 47.8% were attributed to the patient or circuit, and 18% of the patients were awaiting test results. CONCLUSIONS: The information supplied in the ID-1 improved significantly after the quality cycle. Knowing our habitual working practice can serve to stimulate improvement. The criteria we complied with least were: reference to personal antecedents and/or habitual medication, physical examination, and therapeutic measures employed. There was a huge loss of information in the replies to our referrals.

[Attitude to tobacco and prevalence of smokers among primary care physicians in Guipúzcoa]. / Actitud ante el tabaco y prevalencia de fumadores en médicos de atención primaria de Guipúzcoa.

OBJECTIVE: To discover the evolvement of Primary Care doctors' tobacco consumption in Guipuzcoa and their attitudes to tobacco dependency. DESIGN: A descriptive study of a crossover type. October 1992. SETTING: Primary Health care. PARTICIPANTS: 381 general physicians and paediatricians from Guipuzcoa province. MEASUREMENTS AND MAIN RESULTS: A self-filled questionnaire was distributed at Health Centres for subsequent return by mail. The reply rate was 60.89%, 42.3% were smokers; 33.6%, ex-smokers. 43% of smokers smoked in the Centre; 2% in front of patients. We found significant differences (p < 0.05) with a study carried out in 1988, where doctors who smoked were 52.4%, ex-smokers 19% and doctors who smoked in front of patients, 18.2%. 45.7% of women smoked, 39.2% of men. 78% of the doctors under study stated that they questioned patients about tobacco consumption. 95.2% did so when patients had specific pathologies. CONCLUSIONS: There has been a significant decline in tobacco smoking by doctors in Guipuzcoa. There are more women than men smokers. There is a higher proportion of ex-smokers among doctors than in the population as a whole. There has been a positive change of attitude as to smoking in front of patients. Centres should become more involved in the struggle against tobacco by offering to set up dependency counselling groups.