The Relation of CFTR-Genotype and Associated Comorbidities to Development of Pulmonary Atelectasis in Cystic Fibrosis Patients

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Cetoacidosis diabética en adolescente con fibrosis quística / Diabetic ketoacidosis in adolescent with cystic fibrosis

La dificultad respiratoria aguda en pacientes con fibrosis quística puede deberse a causas metabólicas. La alteración del metabolismo hidrocarbonado es una complicación frecuente en estos pacientes. La diabetes relacionada con la fibrosis quística se debe a una disminución en la secreción de insulina secundaria a la insuficiencia pancreática como causa primaria; sin embargo, el tratamiento glucocorticoideo y otros factores (desnutrición, disfunción hepática, infecciones, etc.) pueden intervenir creando resistencia a la insulina. Es imprescindible establecer un control glucémico en las exacerbaciones respiratorias y en pacientes tratados con fármacos hiperglucemiantes como, por ejemplo, los glucocorticoides orales en la aspergilosis broncopulmonar alérgica

Acute respiratory distress in patients with cystic fibrosis may be due to metabolic causes and the alteration of the hydrocarbon metabolism is a frequent complication in these patients. Cystic fibrosis-related diabetes is due to a decrease in insulin secretion secondary to pancreatic insufficiency as the primary cause; however, glucocorticoid treatment and other factors (malnutrition, hepatic dysfunction, infections...) can intervene by creating insulin resistance. Glycemic control is essential in respiratory exacerbations and in patients treated with hyperglycemic drugs, for example oral glucocorticoids as a treatment of allergic bronchopulmonary aspergillosis

Valoración de la posible transmisión intrafamiliar de bacterias que colonizan a los pacientes con fibrosis quística / Assessment of possible intra-family transmission of bacteria that colonize patients with cystic fibrosis

INTRODUCCIÓN: En la Fibrosis Quística (FQ), la patología broncopulmonar es la más representativa y grave en todo el espectro de la enfermedad, causada principalmente por la colonización persistente de la vía aérea por bacterias con capacidad patogénica. Su control es fundamental para mejorar el pronóstico de estos pacientes. Conocer las fuentes de infección en estos casos permitiría diseñar mejores estrategias para su prevención. OBJETIVOS: Evaluar, en el entorno familiar de pacientes con FQ, la posible transmisión de bacterias que frecuentemente colonizan las vías respiratorias, como Pseudomonas aeruginosa y Streptococcus pneumoniae. MATERIAL Y MÉTODO: Se incluyeron un total de 10 pacientes con FQ y 15 familiares convivientes, de los que se tomaron muestras de esputo y frotis orofaríngeo respectivamente. En ellos se trataron de identificar bacterias mediante técnicas de metagenómica (PCR- DGGE del gen 16S-rRNA para bacterias) y de ampliación de ácidos nucleicos. RESULTADOS: Los resultados del estudio de metagenómica mostraron la presencia de diferentes bacterias en todos los pacientes evaluados, siendo las más frecuentes Pseudomonas spp. (n=9), Streptococcus spp. (n=4), Staphylococcus spp. (n=2) y Haemophilus influenzae (n=2). En los familiares se identificó por PCR Pseudomona aeruginosa en el 46,5% de los casos y S. pneumoniae en el 66,7%. La concordancia entre familiares y pacientes fue del 40% para P. aeruginosa, con coincidencia de genotipos del 100% y una concordancia del 20% para S. pneumoniae. CONCLUSIONES: La presencia de bacterias que frecuentemente colonizan el tracto respiratorio de los pacientes con fibrosis quística es frecuente entre los familiares que cohabitan con ellos, lo que podría facilitar la transmisión de unos sujetos a otros y la persistencia de éstas en el entorno familiar

INTRODUCTION: In Cystic Fibrosis (CF), bronchial-pulmonary pathology is the most representative and serious within the scope of this disease, and generally caused by the persistent colonization of the airways by pathogenic bacteria. Control is essential to improve the prognosis of these patients. In these cases, understanding the source of infection would facilitate the design of improved prevention strategies. OBJECTIVES: Assess, within the family environment of patients with CF, the possible transmission of bacteria that frequently colonize airways, such as Pseudomonas aeruginosa and Streptococcus pneumoniae. MATERIAL AND METHODS: Ten patients with CF were included in this study, as well as 15 cohabiting relatives, from whom sputum samples and oropharyngeal smears were taken respectively. Using metagenomics, the bacteria were identified (PCR- DGGE of the gene16S-rRNAfor bacteria) and the expanding of nucleic acids. RESULTS: The results of the metagenomic study proved the presence of various bacteria in all patients assessed, with the most frequent being Pseudomonas spp. (n=9), Streptococcus spp. (n=4), Staphylococcus spp. (n=2) and Haemophilus influenzae (n=2). Using PCR in the relatives, P. aeruginosa was identified in 46.5% of the cases, and S. pneumoniae in 66.7%. Consistency between relative and patient was 40% for P. aeruginosa, with a 100% genotype coincidence and a 20% consistency for S. pneumoniae. CONCLUSIONS: The presence of bacteria that frequently colonize the respiratory tract in patients with cystic fibrosis is recurrent among relatives cohabiting with them, which could facilitate the transmission of bacteria from one person to another and the persistence of said bacteria within the family environment

The role of daily physical activity and nutritional status on bone turnover in cystic fibrosis: a cross-sectional study.

BACKGROUND: Nutritional status and daily physical activity (PA) may be an excellent tool for the maintenance of bone health in patients with cystic fibrosis (CF). OBJECTIVE: To evaluate the relationship between nutritional status, daily physical activity and bone turnover in cystic fibrosis patients. METHOD: A cross-sectional study of adolescent and adult patients diagnosed with clinically stable cystic fibrosis was conducted. Total body, femoral neck, and lumbar spine bone mineral density (BMD) were determined by dual energy X-ray absorptiometry and bone metabolism markers ALP, P1NP, PICP, and ß-CrossLaps. PA monitoring was assessed for 5 consecutive days using a portable device. Exercise capacity was also determined. Serum 25-hydroxyvitamin D and vitamin K were also determined in all participants. RESULTS: Fifty patients (median age: 24.4 years; range: 16-46) were included. BMI had positive correlation with all BMD parameters, with Spearman's coefficients ranging from 0.31 to 0.47. Total hip bone mineral density and femoral neck BMD had positive correlation with the daily time spent on moderate PA (>4.8 metabolic equivalent-minutes/day; r=0.74, p<0.001 and r=0.72 p<0.001 respectively), daily time spent on vigorous PA (>7.2 metabolic equivalent-minutes/day; r=0.45 p<0.001), body mass index (r=0.44, p=0.001), and muscle mass in limbs (r=0.41, p=0.004). Levels of carboxy-terminal propeptide of type 1 collagen were positively associated with the daily time spent on moderate (r=0.33 p=0.023) and vigorous PA (r=0.53, p<0.001). CONCLUSIONS: BMI and the daily time spent on moderate PA were found to be correlated with femoral neck BMD in CF patients. The association between daily PA and biochemical markers of bone formation suggests that the level of daily PA may be linked to bone health in this patient group. Further research is needed to confirm these findings.

The role of daily physical activity and nutritional status on bone turnover in cystic fibrosis: a cross-sectional study

ABSTRACT Background Nutritional status and daily physical activity (PA) may be an excellent tool for the maintenance of bone health in patients with cystic fibrosis (CF). Objective To evaluate the relationship between nutritional status, daily physical activity and bone turnover in cystic fibrosis patients. Method A cross-sectional study of adolescent and adult patients diagnosed with clinically stable cystic fibrosis was conducted. Total body, femoral neck, and lumbar spine bone mineral density (BMD) were determined by dual energy X-ray absorptiometry and bone metabolism markers ALP, P1NP, PICP, and ß-CrossLaps. PA monitoring was assessed for 5 consecutive days using a portable device. Exercise capacity was also determined. Serum 25-hydroxyvitamin D and vitamin K were also determined in all participants. Results Fifty patients (median age: 24.4 years; range: 16-46) were included. BMI had positive correlation with all BMD parameters, with Spearman’s coefficients ranging from 0.31 to 0.47. Total hip bone mineral density and femoral neck BMD had positive correlation with the daily time spent on moderate PA (>4.8 metabolic equivalent-minutes/day; r=0.74, p<0.001 and r=0.72 p<0.001 respectively), daily time spent on vigorous PA (>7.2 metabolic equivalent-minutes/day; r=0.45 p<0.001), body mass index (r=0.44, p=0.001), and muscle mass in limbs (r=0.41, p=0.004). Levels of carboxy-terminal propeptide of type 1 collagen were positively associated with the daily time spent on moderate (r=0.33 p=0.023) and vigorous PA (r=0.53, p<0.001). Conclusions BMI and the daily time spent on moderate PA were found to be correlated with femoral neck BMD in CF patients. The association between daily PA and biochemical markers of bone formation suggests that the level of daily PA may be linked to bone health in this patient group. Further research is needed to confirm these findings.

Depression and anxiety symptoms in Spanish adult patients with cystic fibrosis: associations with health-related quality of life.

BACKGROUND: Cystic fibrosis (CF) is a chronic disease with an impact on the quality of life. Self-reported symptoms of depression and anxiety were assessed in the Spanish cohort of the International Epidemiological Study on Depression and Anxiety in patients with CF (International Depression-Anxiety Epidemiological Study) and their relationship with health status and health-related quality of life (HRQoL) was evaluated. METHODS: This cross-sectional study recruited adult patients with CF at 10 Spanish centers. Patients completed the Hospital Anxiety and Depression Scale (HADS) and the Revised Cystic Fibrosis Questionnaire. Demographic and health data were recorded from medical charts. Logistic regression was used to determine the predictors of elevated symptoms of depression and anxiety (HADS≥8). RESULTS: Of the 336 participants recruited (mean age, 28.1years; 48.2% women), 41 (12.2%) had elevated depression-related scores, and 100 (29.7%) had elevated anxiety-related scores (HADS≥8). After adjusting for confounders, only less education, intravenous antibiotics, psychiatric medications and psychotherapy were significantly associated with elevated psychological symptoms. Specifically, regardless of lung function, patients who were depressed or anxious reported worse HRQoL. CONCLUSIONS: The prevalence of elevated symptoms of depression and anxiety was high in Spanish adult patients with CF, and these symptoms were associated with a decreased HRQoL.

Screeening neonatal de fibrosis quística: ventajas e inconvenientes. Situación actual en Andalucía Occidental / Current status of the cystic fibrosis newborn screening program in Western andalusia (Spain)

La fibrosis quística (FQ) es la enfermedad genética grave, con herencia autosómica recesiva, más frecuentemente en la población de origen caucásico, con una incidencia de 1 en 2.000-6.000 nacimientos. La esperanza de vida ha aumentado considerablemente, situándose actualmente cercana a los 40 años. Esto es debido a una serie de factores entre los que se encuentra la implantación del cribado neonatal (SNFQ). Actualmente el diagnóstico sintomático de los niños con FQ en nuestro país es raro, gracias al establecvimiento de diferentes programas de screening neonatal, cuyas ventajas están claramente establecidas, destacando el mejor estado nutriciona, mejor función pulmonar y, consecuentemente, mayor supervivencia de los pacientes diagnosticados presintomáticamente. Pese a que el SNFQ está ampliamente aceptado, no existe una única estrategia de screening universalemente aceptada, existiendo en la actualidad 26 programas de SNFQ diferentes. Todos se basan en dos o tres pasos, siendo el primer escalón en todos ellos la cuantificación de tripsinógeno inmunorreactivo (TIR) en muestras de sangre seca que se encuentra elevado como consecuencia de la obstrucción de los conductos pancreáticos. Presentamos los resultados del screening neonatal en Andalucía occidental tras tres años de implantación del mismo (AU)

Cystic fibrosis (CF) is the most common severe genetic disease in the caucasian population,with a recessive autosomal inheritance and with an estimated incidence of 1 in 2,000-6,000 births. Life expectancy has greatly increased and now stands close to 40 years. This is because a number of factors including the implementation of newborn screeening (NS) programs. Currently the diagnosis of symptomatic children with CF is rare in our country due to different wxisting CF NS programs whose benefits are clearly esetablished: improved nutritional status, better lung function and consequently increased survival of patients who had a presymptomatic diagnosis. Although the NS is widely accepted, no single universally screening strategy has been fully accepted and as much as 26 different NS exist today. They are all based on two or three steps; the frst step determines immunireactive trypsinogen (IRT) levels in dried blood, resultls of the NS. We present the results of the CF NS program in western Andalusia that was implemented three years ago (AU)

Determinantes de la capacidad de esfuerzo en pacientes adultos diagnosticados de fibrosis quística / Determining exertion capacity of adult cystic fibrosis patients

Introducción: La fibrosis quística (FQ) es una enfermedad hereditaria que se relaciona con un deterioro de la función pulmonar, malnutrición e intolerancia progresiva al ejercicio. La finalidad de nuestro estudio fue examinar la capacidad de esfuerzo de pacientes adultos diagnosticados de FQ y su relación con la función pulmonar, el estado nutricional y la actividad física. Método: Incluimos a 50 pacientes adultos diagnosticados de FQ, edad 24,4 (5,9) años con FEV1 60,4 (28)%. Las medidas incluyeron el índice de masa corporal (IMC), masa magra de extremidades (MMe), función pulmonar, evaluación de la capacidad de ejercicio (VO2max) y test de los 6 minutos (6MM). La actividad física fue medida mediante un acelerómetro portátil. Se calculó un modelo de regresión lineal múltiple para VO2max.Resultados: Los pacientes tenían un reducido IMC (20,6 (2,7) kg/m2) y MMe (17,2 (2,6) g/cm2). La distancia media andada en el 6MM fue 633,3 (74,5) m y el VO2max alcanzado fue 70,9 (17,7)%. La media de los pasos medios medidos fue 8.173,8 (3.776,2). La VO2max se relacionaba de forma significativa con la edad (–0,3 (–0,561 / –0,061), FEV1 (0,117; 0,059-0,175), media de pasos diarios (0,001 [0-0,001]), 6MM (0,022[0-0,045]) e IMC (–0,658[–1,2 / –0,067]). Conclusiones: En nuestro grupo de pacientes con FQ, había limitación en la realización de ejercicio, estando ésta influenciada por la función respiratoria, la actividad física y el estado nutriciona (AU)

Introduction: Cystic fibrosis (CF) is a hereditary disease linked to the deterioration of lung function, malnutrition and progressive exercise intolerance. The objective of this study was to examine the exertion capacity of CF patients and the relationship with lung function, nutritional status and physical activity. Method: Included in the study were fifty (50) patients who had been diagnosed with CF, age 24.4 (±5.9 years with FEV160.4 (28%). Measurements included body mass index (BMI), limb lean mass (LLM), lung function, assessment of exercise capacity (VO2 max) and 6-minute walk test. Physical activity was measured using a portable accelerometer. A multiple lineal regression model was calculated for VO2 max. Results: Patients had a reduced BMI (20.6 (±2.7) kg/m2) and LLM (17.2 (±2.6) g/cm2). The mean distance walked for the 6-minute walk was 633.3 (±74.5) m and the VO2 max reached was 70.9% (±17.7) The mean of the average steps measured was 8,173.8 (3,776.2). The VO2 max related significantly with the age (–0.3 (–0.561 / –0.061), FEV1 (0.117; 0.059-0.175), average of daily steps (0.001 [0-0.001]), 6-minute walk (0.022[0-0.045]) and BMI (–0.658[–1.2 / –0.067]). Conclusions: In our group of patients with CF, there were limits when exercising, with exercise being influenced by respiratory function, physical activity and nutritional status (AU)

Los ácidos grasos esenciales en la fibrosis quística / No disponible

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Medicamentos extranjeros en atención primaria / No disponible

La incorporación de la gestión de medicamentos extranjeros a la cartera de servicios de la Farmacia de atención primaria representa una interesante oportunidad para desarrollar nuevas perspectivas profesionales enel entorno de la atención farmacéutica.Objetivo. Analizar la actividad realizada por el servicio de farmacia de atención primaria, respecto a lagestión de medicamentos extranjeros, revisando las posibilidades que ofrece y planteando líneas estratégicaspara la optimización del proceso.Metodología. Se describe el procedimiento de gestión llevado a cabo por el servicio de farmacia de un áreade salud (162.261 habitantes) durante el primer periodo de funcionamiento. Se realiza un análisis DAFO del proceso.Análisis DAFO. Fortalezas: Gran accesibilidad del paciente, simplificación de trámites, existencia de unprocedimiento normalizado de trabajo. Debilidades: Escasez de recursos, falta de experiencia. Oportunidades:Requerimientos de información continua, de coordinación entre niveles, necesidad de atención farmacéuticaal paciente. Amenazas: Escasa relevancia fuera del contexto, dificultad en el mantenimiento de lacalidad.Líneas estratégicas de actuación. 1. Establecimiento de directrices respecto a la atención al paciente,información y seguimiento. 2. Establecimiento de un sistema de coordinación entre los distintos nivelesimplicados. 3. Establecimiento de indicadores y registros de actividad. 4. Adaptación del PNT base. 5. Resolución de los problemas de recursos.Discusión. La atención farmacéutica por parte de los servicios de farmacia de atención primaria puedeofrecer una alta calidad en la atención integral del paciente, dando soporte a sus necesidades (disponibilidadde medicamentos, control, coordinación e información)

The addition of the management of foreign drugs to the range of services of the primary care pharmacy representsan interesting opportunity for the development of new professional prospects in the pharmaceuticalcare setting.Objective. To analyze the activity of the primary care pharmaceutical service with regard to the managementof foreign drugs, examining the opportunities it offers and suggesting strategies for optimizing theprocess.Methods. The authors describe the management procedure carried out by the pharmacy service of a healthcare area (population 162,261) during its initial period of activity. A SWOT approach was employed for theanalysis.SWOT analysis. Strengths: Ready access on the part of the patient, simplification of the process, existenceof a standardized working procedure. Weaknesses: Scarcity of resources, lack of experience. Opportunities:To fulfill the needs for continuous information, coordination among levels of professionals and pharmaceutical care for the patient. Threats: Little relevance when taken out of context, difficulties in maintenance of quality.Strategies for action: 1) The drafting of guidelines concerning patient care, information and follow-up. 2) The establishment of a system of coordination among the different levels involved. 3) The establishment of indicators and records of the activity carried out. 4) Adaptation of the untreated patient base. 5) Solution of the problems of resources.Dicussion. High-quality pharmaceutical care on the part of primary care pharmacy services can be achieved.It involves offering integral care to patients and providing support for their needs (availability of medication, control, coordination and information)

[Generic drugs in a district hospital. Intervention strategies]. / Especialidades farmacéuticas genéricas en un hospital comarcal. Impacto de dos estrategias de intervención.

OBJECTIVE: To know the prescription of generic drugs in specialized attention and the impact of two different intervention strategies: MATERIAL AND METHODS: Intervention trial with evaluation and later comparison. The data on the use of generic drugs are obtained from the medical reports. After an informative note of general character we repeated the taking of data one month later. In the service of Medicine we also analysed each doctor's profile prescriptions and a personalized informative note was edited and accompanied by a brief verbal explication of the campaign. Then repeated the collection of data to the week and the month. RESULTS: 1545 reports were revised (3460 prescribed drugs). 42% of the medication could be prescribed as generic but it was only made in 10% (21% in Internal Medicine). After the informative note no significant variations were observed. Only in Internal Medicine an initial increment was obtained (21 to 56%, RR 0.38, IC 0.26-0.55) that it disappeared at month. COMMENTS: The utility of the intervention to generic promotion is limited and transitory. Besides improve the information, seems necessary the implication of the physician in the promotion campaigns.

Especialidades farmacéuticas genéricas en un hospital comarcal. Impacto de dos estrategias de intervención / Generic drugs in a distric hospital. Intervention strategies

Objetivo: Conocer los hábitos de prescripción de especialidades farmacéuticas genéricas en atención hospitalizada y el impacto de dos diferentes estrategias de intervención. Material y métodos: Se diseña un estudio de intervención con evaluación previa y comparación posterior. A partir de los informes de alta generados en el Hospital Comarcal Francisco de Borja de Gandía se recogieron los fármacos prescritos, la proporción de ellos en los que existe alternativa como EFG disponible y porcentaje que se pauto como tal. Tras una notar informativa de carácter general se repitió la toma de datos al mes. En el Servicio de Medicina Interna se analizó también el perfil presciptor de cada facultativo, redactándose una hoja informativa personalizada que se distribuyo de forma personal, acompañada de una breve explicación verbal. Se repitió la toma de datos a la semana y al mes. Resultados: Se revisaron un total de 1545 informes de alta y 3460 fármacos prescritos. En la toma de datos basal el 42 por ciento de la medicación prescrita podría haberse pautado como EFG pero se prescribió como tal en el 10 por ciento (21 por ciento en el Servicio de Medicina Interna). Tras la nota informativa general no se objetivaron variaciones significativas en el porcentaje de utilización de EFG. En Medicina Interna, se obtuvo un significativo incremento a la semana de la intervención, del 21 por ciento se paso al l 56,8 por ciento (RR 0.38 IC al 95 por ciento (0,26- 0,55) pero que tendía a desvanecerse al mes (27 por ciento) perdiendo significación estadística. Comentarios: La utilidad de campañas de promoción del uso de EFG es limitada y transitoria por lo que además de mejorar la información respecto a la disponibilidad y eficacia de las EFG, se debería contemplar la implicación del prescriptor tanto en la atención primaria como en la especializada (AU)

Home respiratory polygraphy for diagnosis of sleep-disordered breathing in heart failure.

The present study assessed the usefulness of home cardiorespiratory polygraphy as an alternative to overnight polysomnography for the diagnosis of sleep-disordered breathing in heart failure. A total of 75 patients with chronic stable heart failure due to systolic dysfunction (left ventricular ejection fraction < or =45%) underwent polysomnography at the Virgen del Rocio Hospital and cardiorespiratory polygraphy at home. The two studies were performed in random order and within 30 days. The accuracy of polygraphical findings was determined by sensitivity and specificity obtained by area under the receiver operating characteristics (ROC) curves for apnoea-hypopnoea index (AHI) thresholds of > or =5, > or =10 and > or =15 in the polysomnography. The area under the ROC curve for AHI > or =5, > or =10 and > or =15 was 0.896, 0.907 and 0.862, respectively. The diagnostic accuracy of polygraphy compared with polysomnography ranged 78.6-84%, with sensitivities of 68.4-82.5%, and specificities of 88.6-97.8% for the different AHI thresholds. Altogether, 29 patients had an AHI > or =10 (central pattern 24, obstructive pattern 5). Sensitivity and specificity of home polygraphy for identifying the sleep-disordered breathing pattern was 100%. These data show that home cardiorespiratory polygraphy has a high sensitivity and specificity for the diagnosis of sleep-disordered breathing associated with heart failure.

Effects of sex on sleep-disordered breathing in adolescents.

This study was conducted to determine the influence of puberty on features of sleep-disordered breathing (SDB) in adolescents. The study was performed in a general population sample of 226 adolescents of both sexes (aged 11-19 yrs) recruited from the secondary school population of the city of Seville, Spain. Subjects were divided into two groups: 1) postpubertal, i.e. females who had undergone menarche and males in whom axillary hair development or peak height velocity had occurred > 1 yr before the study; and 2) peripubertal, i.e. females who had not undergone menarche and males who had not developed axillary hair nor reached peak height velocity, or subjects in whom these pubertal changes had appeared < 1 yr before the study. All subjects answered a questionnaire on SDB and underwent overnight cardiorespiratory polygraphy. There were 50 males and 40 females (mean +/- SD age 13.5 +/- 1.2 yrs) in the peripubertal group, and 54 males and 82 females (age 16.3 +/- 1.7 yrs) in the postpubertal group. Males exhibited significantly higher neck circumference/height index and waist/hip index than females in both the peripubertal and postpubertal groups. In the postpubertal group, snoring and polygraphic alterations (respiratory events and oximetric parameters) were significantly more frequent in males than in females. Postpubertal adolescents showed sex differences in clinical and polygraphic parameters that were not observed at earlier pubertal stages. These findings support the influence of sex hormones on sex differences in sleep-disordered breathing.