Newborn Screening for Cystic Fibrosis: A Qualitative Study of Successes and Challenges from Universal Screening in the United States.

Cystic fibrosis (CF) newborn screening (NBS) was universally adopted in 2009 in the United States. Variations in NBS practices between states may impact the timing of diagnosis and intervention. Quantitative metrics can provide insight into NBS programs (NBSP), but the nuances cannot be elucidated without additional feedback from programs. This study was designed to determine facilitators and barriers to timely diagnosis and intervention following NBS for CF. The median age at the first CF event for infants with CF within each state was used to define early and late states (n = 15 per group); multiple CF centers were invited in states with more than two CF centers. Thirty states were eligible, and 61 NBSP and CF centers were invited to participate in structured interviews to determine facilitators and barriers. Once saturation of themes was reached, no other interviews were conducted. Forty-five interviews were conducted (n = 16 early CF center, n = 12 late CF center, n = 11 early NBSP, and n = 6 late NBSP). Most interviewees reported good communication between CF centers and NBSP. Communication between primary care providers (PCPs) and families was identified as a challenge, leading to delays in referral and subsequent diagnosis. The misperception of low clinical risk in infants from racial and ethnic minority groups was a barrier to early diagnostic evaluation for all groups. NBSP and CF centers have strong relationships. Early diagnosis may be facilitated through more engagement with PCPs. Quality improvement initiatives should focus on continuing strong partnerships between CF centers and NBS programs, improving education, communication strategies, and partnerships with PCPs, and improving CF NBS timeliness and accuracy.

XLIX Congreso de la SATO / No disponible

No disponible

Preclinical models for in vitro mechanical loading of bone-derived cells.

It is well established that bone responds to mechanical stimuli whereby physical forces are translated into chemical signals between cells, via mechanotransduction. It is difficult however to study the precise cellular and molecular responses using in vivo systems. In vitro loading models, which aim to replicate forces found within the bone microenvironment, make the underlying processes of mechanotransduction accessible to the researcher. Direct measurements in vivo and predictive modeling have been used to define these forces in normal physiological and pathological states. The types of mechanical stimuli present in the bone include vibration, fluid shear, substrate deformation and compressive loading, which can all be applied in vitro to monolayer and three-dimensional (3D) cultures. In monolayer, vibration can be readily applied to cultures via a low-magnitude, high-frequency loading rig. Fluid shear can be applied to cultures in multiwell plates via a simple rocking platform to engender gravitational fluid movement or via a pump to cells attached to a slide within a parallel-plate flow chamber, which may be micropatterned for use with osteocytes. Substrate strain can be applied via the vacuum-driven FlexCell system or via a four-point loading jig. 3D cultures better replicate the bone microenvironment and can also be subjected to the same forms of mechanical stimuli as monolayer, including vibration, fluid shear via perfusion flow, strain or compression. 3D cocultures that more closely replicate the bone microenvironment can be used to study the collective response of several cell types to loading. This technical review summarizes the methods for applying mechanical stimuli to bone cells in vitro.

A new method to investigate how mechanical loading of osteocytes controls osteoblasts.

Mechanical loading, a potent stimulator of bone formation, is governed by osteocyte regulation of osteoblasts. We developed a three-dimensional (3D) in vitro co-culture system to investigate the effect of loading on osteocyte-osteoblast interactions. MLO-Y4 cells were embedded in type I collagen gels and MC3T3-E1(14) or MG63 cells layered on top. Ethidium homodimer staining of 3D co-cultures showed 100% osteoblasts and 86% osteocytes were viable after 7 days. Microscopy revealed osteoblasts and osteocytes maintain their respective ovoid/pyriform and dendritic morphologies in 3D co-cultures. Reverse-transcriptase quantitative polymerase chain reaction (RT-qPCR) of messenger ribonucleic acid (mRNA) extracted separately from osteoblasts and osteocytes, showed that podoplanin (E11), osteocalcin, and runt-related transcription factor 2 mRNAs were expressed in both cell types. Type I collagen (Col1a1) mRNA expression was higher in osteoblasts (P < 0.001), whereas, alkaline phosphatase mRNA was higher in osteocytes (P = 0.001). Immunohistochemistry revealed osteoblasts and osteocytes express E11, type I pro-collagen, and connexin 43 proteins. In preliminary experiments to assess osteogenic responses, co-cultures were treated with human recombinant bone morphogenetic protein 2 (BMP-2) or mechanical loading using a custom built loading device. BMP-2 treatment significantly increased osteoblast Col1a1 mRNA synthesis (P = 0.031) in MLO-Y4/MG63 co-cultures after 5 days treatment. A 16-well silicone plate, loaded (5 min, 10 Hz, 2.5 N) to induce 4000-4500 µÎµ cyclic compression within gels increased prostaglandin E2 (PGE2) release 0.5 h post-load in MLO-Y4 cells pre-cultured in 3D collagen gels for 48, 72 h, or 7 days. Mechanical loading of 3D co-cultures increased type I pro-collagen release 1 and 5 days later. These methods reveal a new osteocyte-osteoblast co-culture model that may be useful for investigating mechanically induced osteocyte control of osteoblast bone formation.

Impacto de un programa de cesación tabáquica en pacientes con enfermedades cardiovasculares / Impact of a smoking cessation program in patients with cardiovascular disease

Introducción: La cesación tabáquica es una prioridad en la prevención de enfermedades cardiovasculares, pero existe poca evidencia de intervenciones dirigidas hacia estos pacientes.Objetivo: Evaluar el impacto de un Programa de Cesación Tabáquica en términos de efectividad en pacientes con enfermedades cardiovasculares a los 12 meses de la intervención.Métodos: Estudio de intervención comunitaria no controlado sin grupo control, en 50 pacientes fumadores con enfermedades cardiovasculares que asistieron al Programa de Cesación Tabáquica. Las variables utilizadas fueron edad, sexo, nivel educacional, edad de comienzo en el consumo, número de años fumando, antecedentes de padres fumadores, tratamientos para la cesación tabáquica anteriores, dependencia a la nicotina, motivación para dejar de fumar y comportamiento de la abstinencia a los 12 meses. Para la cesación se utilizó la terapia multicomponente. Las técnicas de recolección de la información fueron el Test de Fagerstrom, el Test de Richmond y la encuesta. Para evaluar la posible relación entre variables cualitativas se utilizó el chi2, se trabajó con un 95 por ciento de confianza y una probabilidad asociada p≤0.05. Resultados: Al año de haber concluido la intervención, el 58 por ciento de los pacientes se mantenía en abstinencia. De los pacientes que continuaron fumando, el 26 por ciento redujo la cantidad de cigarrillos a menos de 10 por día y solo el 16 por ciento no obtuvo beneficios con el tratamiento, manteniendo su patrón de consumo inicial.Conclusiones: En términos de efectividad el Programa tuvo un buen impacto, demostrando una reducción del riesgo cardiovascular en los pacientes tratados a los 12 meses de la intervención(AU)

Introduction: Smoking cessation is a priority in the prevention of cardiovascular disease, but there is little evidence of interventions aimed at these patients. Objective: To evaluate the impact of a Smoking Cessation Program in terms of effectiveness in patients with cardiovascular at 12 months postoperatively diseases. Methods: Uncontrolled community intervention without a control group, in 50 smokers with cardiovascular disease who attended the Smoking Cessation Program. The variables used were age, sex, educational level, age at onset in consumption, number of years of smoking, parental smoking history, previous treatments for smoking cessation, nicotine dependence, motivation to quit and abstinence behavior at 12 months. Therapy was used multicomponent cessation. The techniques of data collection were the Fagerstrom Test, the Test of Richmond and survey. To evaluate the possible relationship between qualitative variables was used chi2, we worked with 95 percent confidence and an associated probability p 0.05. Results: One year after the intervention ended, 58 percent of patients remained abstinent. Of the patients who continued to smoke, 26 percent reduced the amount of less than 10 cigarettes per day and only 16 percent received no treatment benefits, maintaining its initial consumption pattern.Conclusions: In terms of effectiveness the program had a great impact, demonstrating a reduction in cardiovascular risk in patients treated at 12 months postoperatively(AU)

Características diagnósticas sobre tabaquismo en trabajadores de una institución de salud / Educative diagnosis of smoking in health workers

El tabaquismo es una causa importante de daños a la salud, prevenible, evitable y en el que el médico y la enfermera ejercen un importante papel como agentes moduladores de las mejoras en salud, sus consejos son pilares en los cambios de estilos de vida de enfermos y sanos. Se realizó un estudio descriptivo de corte transversal con el objetivo de determinar características individuales de comportamiento relacionadas con el hábito de fumar y clasificar su riesgo según características diagnosticas. La muestra se conformó con los 58 trabajadores del Instituto de Cardiología y Cirugía Cardiovascular de La Habana identificados como fumadores. Se les aplicó una encuesta la cual incluyó como variables, las etapas para el cambio, adicción física a la nicotina y presencia de factores de riesgo asociados. EL porcentaje más altos de fumadores se encontró en el personal de enfermería. Más de la mitad (58,6 por ciento) de los fumadores están en etapa de preparación para el cambio, con una dependencia media a la nicotina en cerca de la mitad (41,1por ciento) y sólo algo más de un cuarto presentaron factor de riesgo asociado (30,7 por ciento). La característica diagnostica que predominó fueron los fumadores en etapa de preparación con bajo riesgo (39,7 por ciento). Se puede concluir que la mayoría de los fumadores se encuentran en las etapas de preparación y contemplación para el cambio de comportamiento y como la adicción a la nicotina varió entre poca a moderada y no tenían enfermedad o factor de riesgo asociado al hábito, se clasificaron como trabajadores con bajo riesgo(AU)

Características diagnósticas sobre tabaquismo en trabajadores de una institución de salud / Educative diagnosis of smoking in health workers

El tabaquismo es una causa importante de daños a la salud, prevenible, evitable y en el que el médico y la enfermera ejercen un importante papel como agentes moduladores de las mejoras en salud, sus consejos son pilares en los cambios de estilos de vida de enfermos y sanos. Se realizó un estudio descriptivo de corte transversal con el objetivo de determinar características individuales de comportamiento relacionadas con el hábito de fumar y clasificar su riesgo según características diagnosticas. La muestra se conformó con los 58 trabajadores del Instituto de Cardiología y Cirugía Cardiovascular de La Habana identificados como fumadores. Se les aplicó una encuesta la cual incluyó como variables, las etapas para el cambio, adicción física a la nicotina y presencia de factores de riesgo asociados. EL porcentaje más altos de fumadores se encontró en el personal de enfermería. Más de la mitad (58,6 por ciento) de los fumadores están en etapa de preparación para el cambio, con una dependencia media a la nicotina en cerca de la mitad (41,1por ciento) y sólo algo más de un cuarto presentaron factor de riesgo asociado (30,7 por ciento). La característica diagnostica que predominó fueron los fumadores en etapa de preparación con bajo riesgo (39,7 por ciento). Se puede concluir que la mayoría de los fumadores se encuentran en las etapas de preparación y contemplación para el cambio de comportamiento y como la adicción a la nicotina varió entre poca a moderada y no tenían enfermedad o factor de riesgo asociado al hábito, se clasificaron como trabajadores con bajo riesgo(AU)

The tabaquismo is an important cause of damages to the health, prevenible, avoidable and in the one that the doctor and the nurse an important paper like agents modulators of the improvements exercise in health, their advice are pillars in the changes of lifestyles of sick and healthy. He/she was carried out a descriptive study of traverse court with the objective of determining individual characteristics of behavior related with the habit of to smoke and to classify their risk according to characteristics you diagnose. The sample conformed to with the 58 workers of the Institute of Cardiology and Cardiovascular Surgery of Havana identified as smokers. They were applied a survey which included as variables, the stages for the change, physical adiction to the nicotine and presence of associate factors of risk. The highest percentage in smokers was in the infirmary personnel. More than the half (58,6 percent) of the smokers they are in preparation stage for the change, with a half dependence to the nicotine in near the half (41,1por hundred) and only something more than a room presented factor of associate risk (30,7 percent). The characteristic diagnoses that it prevailed they were the smokers in preparation stage with low risk (39,7 percent). You can conclude that most of the smokers are in the preparation stages and view for the behavior change and as the adiction to the nicotine varied among little to moderate and they didn't have illness or factor of risk associated to the habit, they were classified as workers with low risk(AU)