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PURPOSE: PIK3CA-related overgrowth spectrum (PROS) conditions of the head and neck are treatment challenges. Traditionally, these conditions require multiple invasive interventions, with incomplete malformation removal, disfigurement, and possible dysfunction. Use of the PI3K inhibitor alpelisib, previously shown to be effective in PROS, has not been reported in PIK3CA-associated head and neck lymphatic malformations (HNLMs) or facial infiltrating lipomatosis (FIL). We describe prospective treatment of 5 children with PIK3CA-associated HNLMs or head and neck FIL with alpelisib monotherapy. METHODS: A total of 5 children with PIK3CA-associated HNLMs (n = 4) or FIL (n = 1) received alpelisib monotherapy (aged 2-12 years). Treatment response was determined by parental report, clinical evaluation, diary/questionnaire, and standardized clinical photography, measuring facial volume through 3-dimensional photos and magnetic resonance imaging. RESULTS: All participants had reduction in the size of lesion, and all had improvement or resolution of malformation inflammation/pain/bleeding. Common invasive therapy was avoided (ie, tracheotomy). After 6 or more months of alpelisib therapy, facial volume was reduced (range 1%-20%) and magnetic resonance imaging anomaly volume (range 0%-23%) were reduced, and there was improvement in swallowing, upper airway patency, and speech clarity. CONCLUSION: Individuals with head and neck PROS treated with alpelisib had decreased malformation size and locoregional overgrowth, improved function and symptoms, and fewer invasive procedures.
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Fosfatidilinositol 3-Quinasas , Tiazoles , Niño , Humanos , Fosfatidilinositol 3-Quinasas/genética , Mutación , Fosfatidilinositol 3-Quinasa Clase I/genética , Tiazoles/uso terapéuticoRESUMEN
AIM: To elicit the perceptions of helpline staff who talk to parents of children discharged after cardiac surgery in infancy about parents' key concerns. METHODS: A qualitative study involving semistructured interviews with 10 staff at four heart charities. Interviews were recorded, transcribed and analysed using Framework analysis. RESULTS: Staff identified the knowledge, communication and support needs of parents which they described in terms of the impact of patient and family factors, sources of support and systems. Staff perceptions of helplines, in terms of the function of a helpline and the roles of its staff, together with staff's personal views based on their experience of multiple encounters with many families, influenced how they viewed families' needs and responded to their requests. CONCLUSION: Helpline staff provided important, previously uncaptured evidence about the challenges faced by parents of children discharged after cardiac surgery in infancy. Staff have an important role in supporting communication, in terms of speaking to families about how to talk to professionals and talking to professionals directly to get or give information when parents are unable to do so. Capturing the perspective of helpline staff about communication issues has highlighted the need for interventions with professionals as well as parents.
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Procedimientos Quirúrgicos Cardíacos/métodos , Organizaciones de Beneficencia/estadística & datos numéricos , Continuidad de la Atención al Paciente/tendencias , Cardiopatías Congénitas/cirugía , Alta del Paciente , Relaciones Profesional-Familia , Procedimientos Quirúrgicos Cardíacos/efectos adversos , Preescolar , Comunicación , Urgencias Médicas , Femenino , Cardiopatías Congénitas/diagnóstico , Humanos , Lactante , Recién Nacido , Entrevistas como Asunto , Masculino , Percepción , Investigación Cualitativa , Reino UnidoRESUMEN
Increasing numbers of operations in small infants with complex congenital heart disease are being carried out in the UK year on year, with more surviving the initial operation. However, even after successful surgery some of these infants remain fragile when they are discharged home. The aim of the study was to elicit parents' experiences of caring for a child with complex needs after major congenital heart surgery. We conducted a qualitative study involving semi-structured interviews with parents of 20 children (aged <1-5 months at hospital discharge), who had undergone open heart surgery and subsequently died or been readmitted unexpectedly to intensive care following their initial discharge home. Feeding difficulties following discharge from the specialist surgical centre emerged as one of the most significant parental concerns spontaneously raised in interviews. For some parents the impact of feeding difficulties overshadowed any other cardiac concerns. Key themes centred around feeding management (particularly the practical challenges of feeding their baby), the emotional impact of feeding for parents and the support parents received or needed after discharge with respect to feeding. Caring for a child with congenital heart disease following surgery is demanding, with feeding difficulties being one of the most significant parent stressors. Local health professionals can be a good source of support for parents provided that they are well informed about the needs of a cardiac baby and have realistic expectations of weight gain. Specialist surgical centres should consider addressing issues of parental stress around feeding and weight gain prior to hospital discharge. © 2016 Blackwell Publishing Ltd.
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Cardiopatías Congénitas/cirugía , Fenómenos Fisiológicos Nutricionales del Lactante , Padres/psicología , Alta del Paciente , Estrés Psicológico , Humanos , Lactante , Recién Nacido , Morbilidad , Investigación Cualitativa , Factores de Riesgo , Reino Unido , Aumento de PesoRESUMEN
OBJECTIVE: Compared to shorter-stay patients, caring for long-stay patients in the ICU entails a disproportionate burden for staff. Our objective was to gain a deeper understanding of the impact on staff of caring for children who have a prolonged stay on the PICU. DESIGN: Qualitative study based on semi-structured interviews. Data were analyzed using the Framework approach. SETTING: Children's tertiary hospital. PARTICIPANTS: Seventeen members of staff (7 psychosocial staff, 7 nurses, 3 consultants) working in the PICU, neonatal ICU, or cardiac ICU (PICU will be used to encompass neonatal ICU, cardiac ICU, and PICU for the remainder of this article). INTERVENTIONS: Semi-structured, tape-recorded interviews. MEASUREMENTS AND MAIN RESULTS: Staff reported both positive and challenging aspects of caring for long-stay patients in the PICU. Five key areas relating to the challenges of caring for long-stay patients were identified: staff expectations about their work, characteristics of the patient group, the impact on staff, the impact on the wider unit, and the availability of support. Staff views were often compounded by individual cases they had been involved with or had heard about which fell at either end of the spectrum of "good" and "bad". CONCLUSIONS: Whilst there are reported benefits associated with caring for long-stay patients, there are a number of challenges reported that may have implications for staff and the wider unit. When caring for a particular sub-group of long-stay patients, staff may be more likely to experience negative impacts. A key priority for the PICU is to ensure that support mechanisms are timely, accessible, and allow staff to explore their own reactions to their work.
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Actitud del Personal de Salud , Cuidados Críticos/psicología , Unidades de Cuidado Intensivo Pediátrico , Tiempo de Internación , Cuidados Críticos/métodos , Femenino , Hospitales Pediátricos , Humanos , Entrevistas como Asunto , Londres , Masculino , Relaciones Profesional-Paciente , Investigación Cualitativa , Centros de Atención TerciariaRESUMEN
OBJECTIVE: Meeting the needs of parents of critically ill children is increasingly being recognized as an important factor in the child's clinical outcome as well as the implications it has for future parenting. Little is specifically known about the experience of parents who have a child in the ICU for a prolonged period. Our objective was to understand the experiences of this group to assist in the identification of mechanisms for providing support. DESIGN: Qualitative study based on semistructured interviews. Data were analyzed using the Framework approach. SETTING: The study took place in a tertiary pediatric hospital containing three ICUs: PICU, cardiac ICU, and neonatal ICU (ICU will be used to encompass neonatal ICU, cardiac ICU, and PICU for the remainder of the article). SUBJECTS: Seventeen members of staff and 26 parents of a child who had a long stay in one of the three ICUs. INTERVENTIONS: Semistructured, tape-recorded interviews. MEASUREMENTS AND MAIN RESULTS: Analyses identified two overarching themes, "parent process" and "parent/staff interface," and six subthemes: adjustment, normalization/institutionalization, conflict, involvement in child's care, individualized care, and transition. Themes have been modeled to account for the parental process during a long stay in the ICU and the potential implications for the relationships and interactions between parents and staff. Findings are presented from the data related to the parent process and parent/staff interface. Inclusion of an element in the model related to staff indicates where support mechanisms should be focused. CONCLUSIONS: Over time, long-stay families will likely become more familiar with the environment of the ICU, more knowledgeable about their child's medical needs and more familiar with the staff looking after their child. This has a number of implications for staff working in the ICU.
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Actitud del Personal de Salud , Unidades de Cuidado Intensivo Pediátrico , Tiempo de Internación , Relaciones Padres-Hijo , Padres/psicología , Relaciones Profesional-Familia , Adulto , Femenino , Humanos , Entrevistas como Asunto , Masculino , Persona de Mediana Edad , Investigación CualitativaRESUMEN
BACKGROUND: Babies with CHDs are a particularly vulnerable population with significant mortality in their 1st year. Although most deaths occur in the hospital within the early postoperative period, around one-fifth of postoperative deaths in the 1st year of life may occur after hospital discharge in infants who have undergone apparently successful cardiac surgery. Aim To systematically review the published literature and identify risk factors for adverse outcomes, specifically deaths and unplanned re-admissions, following hospital discharge after infant surgery for life-threatening CHDs. METHODS: A systematic search was conducted in MEDLINE, EMBASE, CINAHL, Cochrane Library, Web of Knowledge, and PsycINFO electronic databases, supplemented by manual searching of conference abstracts. RESULTS: A total of 15 studies were eligible for inclusion. Almost exclusively, studies were conducted in single US centres and focussed on children with complex single ventricle diagnoses. A wide range of risk factors were evaluated, and those more frequently identified as having a significant association with higher mortality or unplanned re-admission risk were non-Caucasian ethnicity, lower socio-economic status, co-morbid conditions, age at surgery, operative complexity and procedure type, and post-operative feeding difficulties. CONCLUSIONS: Studies investigating risk factors for adverse outcomes post-discharge following diverse congenital heart operations in infants are lacking. Further research is needed to systematically identify higher risk groups, and to develop interventions targeted at supporting the most vulnerable infants within an integrated primary and secondary care pathway.
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Procedimientos Quirúrgicos Cardíacos/mortalidad , Cardiopatías Congénitas/mortalidad , Cardiopatías Congénitas/cirugía , Alta del Paciente , Humanos , Lactante , Recién Nacido , Factores de RiesgoRESUMEN
INTRODUCTION: Patients with repaired tetralogy of Fallot have good long-term survival but less is known about the subjectively assessed quality of life or objectively measured functional status of those who have not required subsequent pulmonary valve replacement. We assessed these parameters in a group of children and adults free from pulmonary valve replacement after tetralogy of Fallot repair. METHODS AND RESULTS: A random sample of 50 subjects--16 children and 34 adults, aged 4.1-56.7 years---who had undergone tetralogy of Fallot repair and were free from subsequent pulmonary valve replacement underwent cardiopulmonary exercise testing and completed standardised questionnaires assessing health-related quality of life and resilience. Patients were generally asymptomatic (median New York Heart Association class = I). Exercise capacity was within two standard deviations of normal for most children and adults (mean z VO2max: 0.20 ± 1.5; mean z VE/VCO2: -0.9 ± 1.3). Children reported a total health-related quality of life score similar to healthy norms (78 ± 10 versus 84 ± 1, p = 0.73). Adult survivors also reported quality of life scores comparable to healthy norms. Resilience was highly correlated with all domains of health-related quality of life (r = 0.713, p < 0.0001). CONCLUSIONS: Patients who have undergone tetralogy of Fallot repair in childhood and have not required pulmonary valve replacement have a good long-term health-related quality of life. The finding that patients with greater resilience had better health-related quality of life suggests that it may be beneficial to implement interventions to foster resilience.
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Tolerancia al Ejercicio/fisiología , Estado de Salud , Calidad de Vida/psicología , Resiliencia Psicológica , Tetralogía de Fallot/psicología , Adolescente , Adulto , Niño , Preescolar , Estudios de Cohortes , Estudios Transversales , Prueba de Esfuerzo , Femenino , Humanos , Masculino , Persona de Mediana Edad , Encuestas y Cuestionarios , Tetralogía de Fallot/fisiopatología , Tetralogía de Fallot/cirugía , Adulto JovenRESUMEN
We determined the relationship between aortic arch anatomy in tetralogy of Fallot with pulmonary stenosis and chromosomal or genetic abnormality, by performing analysis of 257 consecutive patients undergoing surgical repair from January, 2003 to March, 2011. Chromosomal or genetic abnormality was identified in 49 of the 257 (19%) patients. These included trisomy 21 (n = 14); chromosome 22q11.2 deletion (n = 16); other chromosomal abnormalities (n = 9); CHARGE (n = 2); Pierre Robin (n = 2); and Kabuki, Alagille, Holt-Oram, Kaufman McKusick, Goldenhar, and PHACE (n = 1 each). Aortic anatomy was classified as left arch with normal branching, right arch with mirror image branching, left arch with aberrant right subclavian artery, or right arch with aberrant left subclavian artery. Associated syndromes occurred in 33 of 203 (16%) patients with left arch and normal branching (odds ratio 1); three of 36 (8%) patients with right arch and mirror image branching (odds ratio 0.4, 95% confidence interval 0.1-1.6); seven of eight (88%) patients with left arch and aberrant right subclavian artery (odds ratio 36, 95% confidence interval 4-302); and six of 10 (60%) patients with right arch and aberrant left subclavian artery (odds ratio 8, 95% confidence interval 2-26). Syndromes were present in 13 of 18 (72%) patients with either right or left aberrant subclavian artery (odds ratio 15, 95% confidence interval 4-45). Syndromes in patients with an aberrant subclavian artery included trisomy 21 (n = 4); chromosome 22q11.2 deletion (n = 5); and Holt-Oram, PHACE, CHARGE, and chromosome 18p deletion (n = 1 each). Aberrant right or left subclavian artery in tetralogy of Fallot with pulmonary stenosis is associated with an increased incidence of chromosomal or genetic abnormality, whereas right aortic arch with mirror image branching is not. The assessment of aortic arch anatomy at prenatal diagnosis can assist counselling.
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Aneurisma/complicaciones , Aneurisma/genética , Anomalías Cardiovasculares/complicaciones , Anomalías Cardiovasculares/genética , Aberraciones Cromosómicas , Trastornos de Deglución/complicaciones , Trastornos de Deglución/genética , Estenosis de la Válvula Pulmonar/complicaciones , Estenosis de la Válvula Pulmonar/genética , Arteria Subclavia/anomalías , Tetralogía de Fallot/complicaciones , Tetralogía de Fallot/genética , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Estudios RetrospectivosAsunto(s)
Trasplante de Corazón , Síndrome del Corazón Izquierdo Hipoplásico/cirugía , Procedimientos de Norwood , Evaluación de Procesos y Resultados en Atención de Salud , Cuidados Paliativos/métodos , Pautas de la Práctica en Medicina , Factores de Edad , Inglaterra/epidemiología , Encuestas de Atención de la Salud , Trasplante de Corazón/efectos adversos , Trasplante de Corazón/mortalidad , Trasplante de Corazón/tendencias , Humanos , Síndrome del Corazón Izquierdo Hipoplásico/diagnóstico , Síndrome del Corazón Izquierdo Hipoplásico/mortalidad , Auditoría Médica , Procedimientos de Norwood/efectos adversos , Procedimientos de Norwood/mortalidad , Procedimientos de Norwood/tendencias , Evaluación de Procesos y Resultados en Atención de Salud/tendencias , Cuidados Paliativos/tendencias , Pautas de la Práctica en Medicina/tendencias , Factores de Riesgo , Factores de Tiempo , Resultado del Tratamiento , Gales/epidemiologíaRESUMEN
OBJECTIVE: To categorise records according to primary cardiac diagnosis in the United Kingdom Central Cardiac Audit Database in order to add this information to a risk adjustment model for paediatric cardiac surgery. DESIGN: Codes from the International Paediatric Congenital Cardiac Code were mapped to recognisable primary cardiac diagnosis groupings, allocated using a hierarchy and less refined diagnosis groups, based on the number of functional ventricles and presence of aortic obstruction. SETTING: A National Clinical Audit Database. Patients Children undergoing cardiac interventions: the proportions for each diagnosis scheme are presented for 13,551 first patient surgical episodes since 2004. RESULTS: In Scheme 1, the most prevalent diagnoses nationally were ventricular septal defect (13%), patent ductus arteriosus (10.4%), and tetralogy of Fallot (9.5%). In Scheme 2, the prevalence of a biventricular heart without aortic obstruction was 64.2% and with aortic obstruction was 14.1%; the prevalence of a functionally univentricular heart without aortic obstruction was 4.3% and with aortic obstruction was 4.7%; the prevalence of unknown (ambiguous) number of ventricles was 8.4%; and the prevalence of acquired heart disease only was 2.2%. Diagnostic groups added to procedural information: of the 17% of all operations classed as "not a specific procedure", 97.1% had a diagnosis identified in Scheme 1 and 97.2% in Scheme 2. CONCLUSIONS: Diagnostic information adds to surgical procedural data when the complexity of case mix is analysed in a national database. These diagnostic categorisation schemes may be used for future investigation of the frequency of conditions and evaluation of long-term outcome over a series of procedures.
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Procedimientos Quirúrgicos Cardíacos/normas , Bases de Datos Factuales , Cardiopatías Congénitas/cirugía , Garantía de la Calidad de Atención de Salud/métodos , Adolescente , Algoritmos , Niño , Preescolar , Conducto Arterioso Permeable/clasificación , Conducto Arterioso Permeable/epidemiología , Conducto Arterioso Permeable/cirugía , Femenino , Cardiopatías Congénitas/clasificación , Cardiopatías Congénitas/epidemiología , Defectos del Tabique Interventricular/clasificación , Defectos del Tabique Interventricular/epidemiología , Defectos del Tabique Interventricular/cirugía , Humanos , Lactante , Masculino , Evaluación de Resultado en la Atención de Salud/métodos , Prevalencia , Medición de Riesgo , Tetralogía de Fallot/clasificación , Tetralogía de Fallot/epidemiología , Tetralogía de Fallot/cirugía , Reino Unido/epidemiologíaRESUMEN
OBJECTIVES: Patients born with bilateral head and neck lymphatic malformations (BHNLMs) often require multiple invasive treatments, including tracheostomy. We hypothesized that primary targeted medical therapy (pTMT) with diagnostic needle aspiration reduces the need for invasive therapy such as surgical resection and/or sclerotherapy. METHODS: Retrospective case review was performed of infants with BHNLMs (Grade 2 or De Serres stage IV and V) treated only at our institution from 2000 to 2021. Patients were divided into two cohorts: those managed with pTMT and those managed with observation, sclerotherapy, or surgical intervention (non-pTMT). Data regarding interventions, clinical outcomes, morbidity, and mortality were analyzed with descriptive statistics. RESULTS: Nine children with BHNLMs met inclusion criteria. Three (33%) were in the pTMT cohort and six (66%) were non-pTMT. Eight (89%) malformations were genotyped, and all demonstrated hotspot PIK3CA variants. All pTMT patients had sirolimus initiated in the first month of life and underwent needle aspiration of malformation cyst fluid for cell-free DNA samples. All pTMT patients tolerated medical therapy. For the non-pTMT cohort, primary treatment included none (deceased, n = 1, 17%), observation with needle aspiration (n = 1, 17%), surgical resection (n = 2, 33%), or combination surgery and sclerotherapy (n = 2, 33%). Intubation duration, intensive care and initial hospital length of stay were not different between cohorts. Four non-pTMT patients (67%) required tracheostomy, and two (33%) died prior to discharge. All pTMT patients survived and none required tracheostomy. Non-pTMT patients required a median of two invasive therapies prior to discharge (IQR 1-4) and a mean total of 13 over the course of their lifetime (IQR 1-16), compared to the pTMT group who did not require any lifetime invasive therapy, even after initial pTMT and discharge home. CONCLUSION: This study compares patients with BHNLMs (Grade 2) treated with pTMT versus those treated with observation or invasive therapy. Patients treated with pTMT required no surgical or invasive procedural treatment of their malformations, no tracheostomy placement, no unplanned readmissions after discharge, and had no mortalities. Needle aspiration was useful as a therapeutic adjunct for cell-free DNA diagnosis of PIK3CA variants, which guided TMT.
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Cabeza , Anomalías Linfáticas , Niño , Lactante , Humanos , Estudios Retrospectivos , Resultado del Tratamiento , Cuello , Anomalías Linfáticas/cirugía , EscleroterapiaRESUMEN
OBJECTIVE: Although the right ventricle (RV) to pulmonary artery conduit in stage 1 Norwood operation results in improved interstage survival, the long-term effects of the ventriculotomy used in the traditional technique remain a concern. The periscopic technique (PT) of RV to pulmonary artery conduit placement has been described as an alternative technique to minimize RV injury. A retrospective study was performed to compare the effects of traditional technique and PT on ventricular function following Norwood operation. METHODS: A retrospective study of all patients who underwent Norwood operation from 2012 to 2019 was performed. Patients with baseline RV dysfunction and significant tricuspid valve regurgitation were excluded. Prestage 2 echocardiograms were reviewed by a blinded experienced imager for quantification of RV function (sinus and infundibular RV fractional area change) as well as for regional conduit site wall dysfunction (normal or abnormal, including hypokinesia, akinesia, or dyskinesia). Wilcoxon rank-sum tests were used to assess differences in RV infundibular and RV sinus ejection fraction and the Fisher exact test was used to assess differences in regional wall dysfunction. RESULTS: Twenty-two patients met inclusion criteria. Eight underwent traditional technique and 14 underwent PT. Median infundibular RV fractional area change was 49% and 37% (P = .02) and sinus RV fractional area change was 50% and 41% for PT and traditional technique (P = .007) respectively. Similarly qualitative regional RV wall function was better preserved in PT (P = .002). CONCLUSIONS: The PT for RV to pulmonary artery conduit in Norwood operation results in better preservation of early RV global and regional systolic function. Whether or not this benefit translates to improved clinical outcome still needs to be studied.
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BACKGROUND: Alaska Native (AN) infants are at risk for severe disease due to respiratory syncytial virus (RSV) and influenza. Maternal immunization protects young infants through transplacental antibody transfer. RSV- and influenza-specific transplacental antibody transfer in mother-infant pairs has not previously been evaluated in the AN population. METHODS: Serum samples collected during pregnancy and at birth from AN mother-infant pairs in the Yukon-Kuskokwim Delta region (YKD) of Alaska (2000-2011; n = 75) and predominantly white pairs in Seattle, Washington (2014-2016; n = 57), were tested for RSV and influenza antibody using a microneutralization and hemagglutination inhibition assay, respectively, and compared between sites. RESULTS: Mean RSV antibody concentrations in pregnant women in YKD and Seattle were similar (log2 RSV antibody 10.6 vs 10.7, P = .86), but cord blood RSV antibody concentrations were significantly lower in infants born to mothers in YKD compared with Seattle (log2 RSV antibody 11.0 vs 12.2, P < .001). Maternal and cord blood influenza antibody concentrations were lower for women and infants in YKD compared with Seattle for all 4 influenza antigens tested (all P < .05). The mean cord to maternal RSV antibody transfer ratio was 1.15 (standard deviation [SD], 0.13) in mother-infant pairs in Seattle compared with 1.04 (SD, 0.08) in YKD. Mean cord blood to maternal antibody transfer ratios for influenza antigens ranged from 1.22 to 1.42 in Seattle and from 1.05 to 1.59 in YKD. CONCLUSIONS: Though the transplacental antibody transfer ratio was high (>1.0) for both groups, transfer ratios for RSV antibody were significantly lower in AN mother-infant pairs. Further studies are needed to elucidate the impact of lower transplacental antibody transfer on infant disease risk in rural Alaska.Alaska Native and continental US mother-infant pairs have high transplacental antibody transfer ratios (>1.0) for influenza and respiratory syncytial virus, but anti-respiratory syncytial virus antibody levels are significantly lower in Alaska Native pairs than in those from the continental US.
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Orthomyxoviridae , Infecciones por Virus Sincitial Respiratorio , Virus Sincitial Respiratorio Humano , Anticuerpos Antivirales , Femenino , Humanos , Lactante , Recién Nacido , Madres , EmbarazoRESUMEN
Parkes Weber syndrome is a fast-flow and slow-flow vascular anomaly with limb overgrowth that can lead to congestive heart failure and limb ischemia. Current management strategies have focused on symptom management with focal embolization. A pediatric case with early onset heart failure is reported. We discuss the use of computational fluid dynamics (CFD) modeling to guide a surgical management strategy in a toddler with an MAP2K1 mutation.
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BACKGROUND: The timing of pulmonary valve replacement (PVR) for free pulmonary incompetence in patients with congenital heart disease remains a dilemma for clinicians. We wanted to assess the determinants of improvement after PVR for pulmonary regurgitation over a wide range of patient ages and to use any identified predictors to compare clinical outcomes between patient groups. METHODS AND RESULTS: Seventy-one patients (mean age 22+/-11 years; range, 8.5 to 64.9; 72% tetralogy of Fallot) underwent PVR for severe pulmonary regurgitation. New York Heart Association class improved after PVR (median of 2 to 1, P<0.0001). MRI and cardiopulmonary exercise testing were performed before and 1 year after intervention. After PVR, there was a significant reduction in right ventricular volumes (end diastolic volume 142+/-43 to 91+/-18, end systolic volume 73+/-33 to 43+/-14 mL/m(2), P<0.0001), whereas left ventricular end diastolic volume increased (66+/-12 to 73+/-13 mL/m(2), P<0.0001). Effective cardiac output significantly increased (right ventricular: 3.0+/-0.8 to 3.3+/-0.8 L/min, P=0.013 and left ventricular: 3.0+/-0.6 to 3.4+/-0.7 L/min, P<0.0001). On cardiopulmonary exercise testing, ventilatory response to carbon dioxide production at anaerobic threshold improved from 35.9+/-5.8 to 34.1+/-6.2 (P=0.008). Normalization of ventilatory response to carbon dioxide production was most likely to occur when PVR was performed at an age younger than 17.5 years (P=0.013). CONCLUSIONS: A relatively aggressive PVR policy (end diastolic volume <150 mL/m(2)) leads to normalization of right ventricular volumes, improvement in biventricular function, and submaximal exercise capacity. Normalization of ventilatory response to carbon dioxide production is most likely to occur when surgery is performed at an age =17.5 years. This is also associated with a better left ventricular filling and systolic function after surgery.
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Factores de Edad , Implantación de Prótesis de Válvulas Cardíacas , Insuficiencia de la Válvula Pulmonar/cirugía , Válvula Pulmonar/cirugía , Función Ventricular , Obstrucción del Flujo Ventricular Externo/cirugía , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Umbral Anaerobio , Dióxido de Carbono , Niño , Estudios de Cohortes , Ecocardiografía , Prueba de Esfuerzo , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Resistencia Física , Periodo Posoperatorio , Pronóstico , Estudios Prospectivos , Insuficiencia de la Válvula Pulmonar/diagnóstico , Insuficiencia de la Válvula Pulmonar/fisiopatología , Respiración , Volumen Sistólico , Resultado del Tratamiento , Obstrucción del Flujo Ventricular Externo/fisiopatologíaRESUMEN
OBJECTIVES: To describe the clinical presentation of lymphatic malformations (LM) and genotypically associated disorders and to summarize the recent literature regarding the genetic etiology of LM and provide a biologic correlation to medical and surgical management. RESULTS: LM are congenital lesions derived from a developmental abnormality of the lymphatic vessels. The severity of disease varies widely and complications can occur with higher staged disease and those associated with a known constellation of symptoms. Somatic mutations of the PIK3CA gene have been found to be an etiologic factor in the development of LM and associated overgrowth syndromes. Sirolimus is a mammalian target of rapamycin (mTOR) inhibitor that inhibits the pathway downstream of PIK3CA. Preliminary studies in select groups of patients suggest that sirolimus has a role in the medical management of certain aspects of this disease. CONCLUSIONS: Discovery of LM molecular genetics has led to the possibility of targeted therapies and highlights the importance of precision medicine in rare diseases. Identifying genetic mutations in larger cohorts of patients with LM will lead to additional insights. Knowledge of the genetic basis for disease can then lead to discovery of directed medical therapy. A specific molecular diagnosis can also help families understand better why their child is different and provide accurate counseling for subsequent pregnancies. LEVEL OF EVIDENCE: 6.
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PURPOSE: To investigate ethnic differences in mortality for infants with congenital heart defects (CHDs) undergoing cardiac surgery or interventional catheterisation. DESIGN: Observational study of survival to age 1 year using linked records from routine national paediatric cardiac surgery and intensive care audits. Mortality risk was investigated using multivariable Poisson models with multiple imputation. Predictors included sex, ethnicity, preterm birth, deprivation, comorbidities, prenatal diagnosis, age and weight at surgery, preprocedure deterioration and cardiac diagnosis. SETTING: All paediatric cardiac surgery centres in England and Wales. PATIENTS: 5350 infants with CHDs born from 2006 to 2009. MAIN OUTCOME MEASURE: Survival at age 1 year. RESULTS: Mortality was 83.9 (95% CI 76.3 to 92.1) per 1000 infants, with variation by ethnic group. Compared with those of white ethnicity, infants in British Asian (Indian, Pakistani and Bangladeshi) and 'all other' (Chinese, mixed and other) categories experienced significantly higher mortality by age 1 year (relative risk [RR] 1.52[95% CI 1.19 to 1.95]; 1.62[95% CI 1.20 to 2.20], respectively), specifically during index hospital admission (RR 1.55 [95% CI 1.07 to 2.26]; 1.64 [95% CI 1.05 to 2.57], respectively). Further predictors of mortality included non-cardiac comorbidities, prenatal diagnosis, older age at surgery, preprocedure deterioration and cardiac diagnosis. British Asian infants had higher mortality risk during elective hospital readmission (RR 1.86 [95% CI 1.02 to 3.39]). CONCLUSIONS: Infants of British Asian and 'all other' non-white ethnicity experienced higher postoperative mortality risk, which was only partly explained by socioeconomic deprivation and access to care. Further investigation of case-mix and timing of risk may provide important insights into potential mechanisms underlying ethnic disparities.
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Procedimientos Quirúrgicos Cardíacos/mortalidad , Etnicidad/estadística & datos numéricos , Cardiopatías Congénitas/cirugía , Mortalidad Infantil/etnología , Inglaterra/epidemiología , Femenino , Cardiopatías Congénitas/mortalidad , Humanos , Lactante , Masculino , Evaluación de Resultado en la Atención de Salud , Estudios Prospectivos , Factores Socioeconómicos , Tasa de Supervivencia , Gales/epidemiologíaRESUMEN
OBJECTIVE: To explore communication between clinicians and families of children undergoing heart surgery. DESIGN: This study was part of a larger study to select, define and measure the incidence of postoperative complications in children undergoing heart surgery. Parents of children recruited to a substudy between October 2015 and December 2017 were asked to complete a questionnaire about communication during their child's inpatient stay. We explored all responses and then disaggregated by the following patient characteristics: presence of a complication, length of stay, hospital site, ethnicity and child's age. This was a descriptive study only. SETTING: Four UK specialist hospitals. RESULTS: We recruited 585 children to the substudy with 385 responses (response rate 66%).81% of parents reported that new members of staff always introduced themselves (18% sometimes, 1% no). Almost all parents said they were encouraged to be involved in decision-making, but often only to some extent (59% 'yes, definitely'; 37% 'to some extent'). Almost two-thirds of parents said they were told different things by different people which left them feeling confused (10% 'a lot'; 53% 'sometimes'). Two-thirds (66%) reported that staff were definitely aware of their child's medical history (31% 'to some extent'). 90% said the operation was definitely explained to them (9% 'to some extent') and 79% that they were definitely told what to do if they were worried after discharge (17% 'to some extent').Parents of children with a complication tended to give less positive responses for involvement in decision-making, consistent communication and staff awareness of their child's medical history. Parents whose children had longer stays in hospital tended to report lower levels of consistent communication and involvement in decision-making. CONCLUSIONS: Our results emphasise the need for consistent communication with families, particularly where complications arise or for children who have longer stays in the hospital.
RESUMEN
This paper discusses the value of police officers as vital sources of information regarding pedestrian safety in their communities by presenting results from a survey of traffic safety police officers. The survey requested information on school crossings that the officers considered most challenging for pedestrians. Officers specified the intersections or mid-block locations with school crossings, and answered questions about elements of the locations, such as what makes the locations challenging, and what might be done to improve conditions at these locations. A key finding from the survey is the police officers' identification of challenging intersections or other crossing locations by criteria other than the occurrence of crashes, including reported pedestrian-vehicle near-miss incidents. A broad literature review of pedestrian safety studies provides context for the use of near-miss data in discussions of improvements to pedestrian crossings. Although not typically considered a primary resource for pedestrian safety information, police officers are most often very familiar with their communities, work in locations where pedestrian and motor vehicle traffic can be experienced and observed, and receive information from their staff and members of the public who use pedestrian crossings. The survey findings demonstrate that police officer insights and near-miss data may serve as important supplementary sources of information in the effort to identify locations in need of interventions before crash occurrence.
Asunto(s)
Accidentes de Tránsito/prevención & control , Peatones , Policia , Humanos , Rol Profesional , Gestión de Riesgos , Instituciones Académicas , Encuestas y CuestionariosRESUMEN
PURPOSE OF REVIEW: This chapter will summarize the most recent literature regarding the current state of medical treatment for vascular anomalies. RECENT FINDINGS: Research into the biology of these anomalies has strengthened our understanding of each anomaly and has helped to pave the way for more tailored treatment options involving molecular and/or genetic targets. SUMMARY: While there is still a role for surgical intervention, medical therapies that target the etiology of vascular anomalies may represent an alternative or adjunctive approach in the management of these lesions.