RESUMO
BACKGROUND: Pulmonary alveolar microlithiasis (PAM) is caused by genetic variants in the SLC34A2 gene, which encodes the sodium-dependent phosphate transport protein 2B (NaPi-2b). PAM is characterised by deposition of calcium phosphate concretions (microliths) in the alveoli leading to pulmonary dysfunction. The variant spectrum of SLC34A2 has not been well investigated and it is not yet known whether a genotype-phenotype correlation exists. METHODS: We collected DNA from 14 patients with PAM and four relatives, and analysed the coding regions of SLC34A2 by direct DNA sequencing. To determine the phenotype characteristics, clinical data were collected and a severity score was created for each variant, based on type and localisation within the protein. RESULTS: We identified eight novel allelic variants of SLC34A2 in 14 patients with PAM. Four of these were nonsense variants, three were missense and one was a splice site variant. One patient was heterozygous for two different variants and all other patients were homozygous. Four patients were asymptomatic and 10 patients were symptomatic. The severity of the disease was associated with the variant severity. CONCLUSIONS: Our findings support a significant role for SLC34A2 in PAM and expand the variant spectrum of the disease. Thus, SLC34A2 variants were detected in all patients and eight novel allelic variants were discovered. An association between disease severity and the severity of the variants was found; however, this needs to be investigated in larger patient populations.
Assuntos
Calcinose , Pneumopatias , Proteínas Cotransportadoras de Sódio-Fosfato Tipo IIb , Sequência de Bases , Doenças Genéticas Inatas , Humanos , Pneumopatias/genética , Alvéolos Pulmonares , Proteínas Cotransportadoras de Sódio-Fosfato Tipo IIb/genéticaRESUMO
Little is known about respiratory morbidity and asthma risk in preterm infants (PTIs) with a gestational age (GA) over 32 weeks. This was a prospective study carried out from birth to 7-8 years, comparing two groups: (a) PTIs (GAs 32 weeks + 1 day to 35 weeks + 0 days, without comorbidities) and (b) full-term infants (FTIs; GA ≥ 37 weeks). Risk and protective factors for bronchiolitis and asthma were identified. A total of 232 children (116/group) were included. Sixty-six (56.9%) PTIs and 43 (37.1%) FTIs presented bronchiolitis (p = 0.002). Recurrent wheezing was 52 (44.8%) on PTIs versus 36 (31.0%) on FTIs (p = 0.03). Asthma at school aged was 27 (23.3%) on PTIs and 8 (6.9%) on FTIs (p = 0.020). Asthma risk factors were only detected in group A.Conclusion: PTIs had a higher prevalence of bronchiolitis, recurrent wheezing and asthma; risk factors for asthma are the following: older siblings, allergic father, atopic dermatitis and antibiotic treatment in the first 3 years of life and prematurity itself, which also acted as protective factor for atopic dermatitis. What is known: ⢠In recent decades, there has been a significant increase in the birth of premature babies and consequently, also in the pathologies secondary to the prematurity: a greater number of complications and disorders related to the development and maturation of many organs and systems, especially the respiratory system. Several studies, especially in full-term infants and very preterm infants, have tried to elucidate the risk factors that may influence the development of persistent or chronic respiratory problems such asasthma, but little is known about the aetiology of these disorders in the late or moderate preterm infants. Inthis group of children, the role played by certain factors (early use of antibiotics, chorioamnionitis, smokeexposure, paternal asthma, etc.) on late respiratory morbidity, or asthma, is inconclusive. ⢠Moderate-to-late preterm infants are more predisposed to developing recurrent wheezing/asthma and should adopt control measures. What is new: ⢠Our work provides data related to little-understood aspects of respiratory diseases in this group of late or moderate preterm infants (gestational age between 32 weeks plus 1 day and 35 weeks plus 0 days), by monitoring their evolution from birth to 7-8 years of age, compared with another group of full-term newborns. We aimed to establish the prevalence of bronchiolitis and recurrent wheezing in these children during their first years of life. ⢠The prevalence of school-aged asthma and the risk factors for contracting it were also investigated.
Assuntos
Asma/epidemiologia , Bronquiolite/epidemiologia , Adulto , Asma/etiologia , Bronquiolite/etiologia , Estudos de Casos e Controles , Criança , Pré-Escolar , Características da Família , Feminino , Idade Gestacional , Humanos , Lactente , Recém-Nascido , Recém-Nascido Prematuro , Doenças do Prematuro/epidemiologia , Doenças do Prematuro/etiologia , Estudos Longitudinais , Masculino , Estudos Prospectivos , Sons Respiratórios/etiologia , Fatores de Risco , Inquéritos e QuestionáriosRESUMO
This cross-sectional study assessed the prevalence of bacteria isolated from Spanish children with suspected chronic lower respiratory tract infection (LRTI) for whom bronchoalveolar lavage (BAL) was indicated. BAL fluid (BALF) was collected from 191 children (aged ≥ 6 months to < 6 years, with persistent or recurrent respiratory symptoms, non-responders to usual treatment) and cultured. Nasopharyngeal swabs (NPSs) were also obtained and cultured to assess concordance of BALF and NPS findings in the same patient. Streptococcus pneumoniae, Haemophilus influenzae, or Moraxella catarrhalis were identified from BALF with a bacterial load indicative of infection (> 104 colony-forming units/mL) in 10.5, 8.9, and 6.3% of children, respectively. Clinical characteristics were similar among participants, regardless of positivity status for any of the bacteria. Approximately 26% of pneumococcal isolates were PCV13 serotypes, and 96% of H. influenzae isolates were non-typeable (NTHi). Concordance between BALF and NPS isolates was 51.0% for S. pneumoniae, 52.1% for H. influenzae, and 22.0% for M. catarrhalis. CONCLUSION: S. pneumoniae, NTHi, and M. catarrhalis were the main bacteria detected in BALF and NPS. Children with suspected chronic LRTI may benefit from a vaccine protecting against NTHi. What is Known: ⢠Chronic lower respiratory tract infection (LRTI) in children can cause high morbidity and is a major use of healthcare resources worldwide. Despite this, their etiology or potential preventive measures are poorly assessed. ⢠Bronchoalveolar lavage can be used to determine bacterial etiology of chronic LRTI. What is New: ⢠We used conventional and molecular techniques to show that Haemophilus influenzae, Streptococcus pneumoniae, and Moraxella catarrhalis were present in the LRT of Spanish children with suspected chronic LRTI ⢠Concordance between isolates from bronchoalveolar lavage fluid and nasopharyngeal swabs was low, suggesting that samples from the upper respiratory tract could not reliably predict the bacterial etiology of suspected chronic LRTI.
Assuntos
Líquido da Lavagem Broncoalveolar/microbiologia , Infecções por Haemophilus/diagnóstico , Haemophilus influenzae/isolamento & purificação , Moraxella catarrhalis/isolamento & purificação , Infecções por Moraxellaceae/diagnóstico , Infecções Pneumocócicas/diagnóstico , Pneumonia Bacteriana/diagnóstico , Lavagem Broncoalveolar , Criança , Pré-Escolar , Doença Crônica , Estudos Transversais , Feminino , Infecções por Haemophilus/epidemiologia , Humanos , Lactente , Masculino , Infecções por Moraxellaceae/epidemiologia , Infecções Pneumocócicas/epidemiologia , Pneumonia Bacteriana/epidemiologia , Pneumonia Pneumocócica/diagnóstico , Pneumonia Pneumocócica/epidemiologia , Espanha/epidemiologiaRESUMO
Community-acquired pneumonia (CAP) is a prevalent disease among children and is frequently associated with both diagnostic and therapeutic uncertainties. Consensus has been reached between SEPAR, SENP and SEIP, and their conclusions are as follows.
Assuntos
Infecções Comunitárias Adquiridas , Pneumonia , Criança , Infecções Comunitárias Adquiridas/diagnóstico , Consenso , Humanos , Pneumonia/diagnóstico , Piruvatos , IncertezaRESUMO
INTRODUCTION: Adolescents with asthma face problems inherent to this stage in their development, to which the challenges of taking over control of their disease, complying with a daily treatment and regular medical followup are added. Any rejection generated by this may lead to treatment non-adherence and poor asthma control, which brings about problems in family dynamics, made worse by the stress or the emotional distress that this situation causes in caregivers. OBJECTIVE: Identify adjustment profiles and predictors of risk for the well-being of caregivers of pediatric patients with bronchial asthma. MATERIAL AND METHODS: Seventy-nine family caregivers of pediatric patients with bronchial asthma. Instruments were used to assess the emotional status (Hospital Anxiety and DepressionScale, HADS) and the perceived level of stress associated with medical care of a pediatric patient (Pediatric Inventory for Parents, PIP). We analyzed the patient's medical outcome measures and the family caregiver's psychological outcome measures regarding their emotional distress and stress. RESULTS: Of all caregivers studied, 34.8% exhibit anxiety symptomatology and moderate perceived stress. Emotional symptomatology correlates positively and significantly with the stress level. The models that best predict emotional distress of caregivers (40-50% of explained variance) include time since diagnosis and patient's treatment burden as stress indicators. CONCLUSIONS: The presence of stress resulting from care, time of exposure and burden of treatments associated with the disease are identified as the main predictors of risk for the well-being of caregivers.
INTRODUCCIÓN: Los adolescentes asmáticos se enfrentan a problemas propios de la etapa a los que se añaden asumir el control de su enfermedad, el cumplimiento de un tratamiento diario y de los controles médicos periódicos. El posible rechazo que esto genere puede conducir a la no adherencia terapéutica y al mal control del asma, lo que ocasiona problemas en la dinámica familiar, agravados por el estrés o el malestar emocional que esta situación provoca en los cuidadores. OBJETIVO: Identificar perfiles de adaptación y detectar predictores de riesgo para el bienestar emocional de los cuidadores de pacientes pediátricos con asma bronquial. MATERIAL Y MÉTODOS: 79 cuidadores familiares de pacientes pediátricos con asma bronquial. Se utilizan instrumentos para evaluar la clínica psicológica emocional (Hospital Anxiety and Depression, HADS) y el nivel de estrés percibido asociado al cuidado médico de un paciente pediátrico (Pediatric Inventory for Parents, PIP). Se analiza el papel de las variables médicas del paciente y las psicológicas del cuidador familiar relativas a su malestar emocional y estrés. RESULTADOS: 34,8% de los cuidadores presenta sintomatología ansiosa y estrés percibido moderado. La sintomatología emocional se relaciona positiva y significativamente con el nivel de estrés. Los modelos que mejor predicen el malestar emocional de los cuidadores (4050% de varianza explicada) incluyen como predictores indicadores de estrés, tiempo desde el diagnóstico y carga terapéutica del paciente. CONCLUSIONES: La presencia de estrés derivado del cuidado, el tiempo de exposición y la carga de los tratamientos asociados a la enfermedad se identificaron como los principales predictores de riesgos para el bienestar del cuidador.
Assuntos
Asma , Cuidadores/psicologia , Emoções , Saúde da Família , Estresse Psicológico , Adolescente , Adulto , Criança , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Medição de Risco , Estresse Psicológico/epidemiologia , Estresse Psicológico/etiologiaRESUMO
At present, there is no specific treatment for primary ciliary dyskinesia, nor controlled and randomized clinical trials to determine how the management and monitoring of these patients should be considered. The therapeutic options are extrapolated from other diseases, such as cystic fibrosis, or non-cystic fibrosis bronchiectasis. However, the implementation of specific groups of experts, both in the USA (PDC-foundation) and in Europe (BESTCILIA or BEAT-PD), are helping to increase knowledge of the disease, opening research channels and seeking new treatments. Until we have therapies capable of correcting the basic defect of the disease, the pillars of treatment are the daily cleansing of the airways and aggressive antibiotherapy against respiratory infections. Multidisciplinary care in specialized centers where pulmonary function is monitored and the infection is prevented and treated will improve, as in cystic fibrosis, the results of patients.
En la actualidad no existe un tratamiento específico para la discinesia ciliar primaria, ni se cuenta con ensayos clínicos controlados y randomizados que permitan determinar cómo debe plantearse el manejo y seguimiento de estos pacientes. Las opciones terapéuticas son extrapoladas de otras enfermedades, como la fibrosis quística, o las bronquiectasias no fibrosis quística. Sin embargo, la puesta en marcha de grupos específicos de expertos, tanto en USA (PDC-foundation) como en Europa (BESTCILIA o BEAT-PD), están permitiendo incrementar el conocimiento de la enfermedad, abriendo vías de investigación y buscando nuevos tratamientos. Hasta contar con terapias capaces de corregir el defecto básico de la enfermedad, los pilares del tratamiento son la limpieza diaria de las vías aéreas y la antibioterapia agresiva frente a las infecciones respiratorias. La atención multidisciplinar en centros especializados donde se monitorice la función pulmonar y se prevengan y traten las infecciones mejorará, como en la fibrosis quística, los resultados de los pacientes.
Assuntos
Humanos , Síndrome de Kartagener/diagnóstico , Síndrome de Kartagener/fisiopatologia , Síndrome de Kartagener/genética , Síndrome de Kartagener/terapia , Infecções Respiratórias/tratamento farmacológico , Seguimentos , Pneumopatias/fisiopatologia , Pneumopatias/terapia , Pneumopatias FúngicasRESUMO
Introducción. Los adolescentes asmáticos se enfrentan a problemas propios de la etapa a los que se añaden asumir el control de su enfermedad, el cumplimiento de un tratamiento diario y de los controles médicos periódicos. El posible rechazo que esto genere puede conducir a la no adherencia terapéutica y al mal control del asma, lo que ocasiona problemas en la dinámica familiar, agravados por el estrés o el malestar emocional que esta situación provoca en los cuidadores. Objetivo. Identificar perfiles de adaptación y detectar predictores de riesgo para el bienestar emocional de los cuidadores de pacientes pediátricos con asma bronquial. Material y métodos. 79 cuidadores familiares de pacientes pediátricos con asma bronquial. Se utilizan instrumentos para evaluar la clínica psicológica emocional (Hospital Anxiety and Depression, HADS) y el nivel de estrés percibido asociado al cuidado médico de un paciente pediátrico (Pediatric Inventory for Parents, PIP). Se analiza el papel de las variables médicas del paciente y las psicológicas del cuidador familiar relativas a su malestar emocional y estrés. Resultados. 34,8% de los cuidadores presenta sintomatología ansiosa y estrés percibido moderado. La sintomatología emocional se relaciona positiva y significativamente con el nivel de estrés. Los modelos que mejor predicen el malestar emocional de los cuidadores (4050% de varianza explicada) incluyen como predictores indicadores de estrés, tiempo desde el diagnóstico y carga terapéutica del paciente. Conclusiones. La presencia de estrés derivado del cuidado, el tiempo de exposición y la carga de los tratamientos asociados a la enfermedad se identificaron como los principales predictores de riesgos para el bienestar del cuidador.
Introduction. Adolescents with asthma face problems inherent to this stage in their development, to which the challenges of taking over control of their disease, complying with a daily treatment and regular medical followup are added. Any rejection generated by this may lead to treatment non-adherence and poor asthma control, which brings about problems in family dynamics, made worse by the stress or the emotional distress that this situation causes in caregivers. Objective. Identify adjustment profiles and predictors of risk for the well-being of caregivers of pediatric patients with bronchial asthma. Material and methods. Seventy-nine family caregivers of pediatric patients with bronchial asthma. Instruments were used to assess the emotional status (Hospital Anxiety and DepressionScale, HADS) and the perceived level of stress associated with medical care of a pediatric patient (Pediatric Inventory for Parents, PIP). We analyzed the patient's medical outcome measures and the family caregiver's psychological outcome measures regarding their emotional distress and stress. Results. Of all caregivers studied, 34.8% exhibit anxiety symptomatology and moderate perceived stress. Emotional symptomatology correlates positively and significantly with the stress level. The models that best predict emotional distress of caregivers (40-50% of explained variance) include time since diagnosis and patient's treatment burden as stress indicators. Conclusions. The presence of stress resulting from care, time of exposure and burden of treatments associated with the disease are identified as the main predictors of risk for the well-being of caregivers.
Assuntos
Humanos , Criança , Adolescente , Adulto , Pessoa de Meia-Idade , Asma , Estresse Psicológico/etiologia , Estresse Psicológico/epidemiologia , Saúde da Família , Cuidadores/psicologia , Emoções , Estudos Transversais , Medição de RiscoRESUMO
La neumonía adquirida en la comunidad (NAC) es una enfermedad prevalente en la edad pediátrica y que ofrece frecuentemente dudas tanto diagnósticas como terapéuticas. Se ha realizado un consenso entre SEPAR, SENP y SEIP, con las siguientes conclusiones: 1. La etiología depende fundamentalmente de la edad y de otros factores, como estado inmunitario, presencia de enfermedad de base o estado vacunal y no existe un marcador analítico único con una absoluta fiabilidad diagnóstica. 2. Ante la sospecha clínica de neumonía, no es imprescindible la realización de una radiografía de tórax en los niños sanos. La ecografía torácica se va imponiendo como método de seguimiento, e incluso de diagnóstico. 3. El tratamiento antibiótico empírico de elección en las formas típicas es la amoxicilina oral a una dosis de 80mg/kg/ día generalmente durante 7 días, mientras que en las atípicas en mayores de 5 años son los macrólidos. En las formas típicas graves se recomienda la combinación de cefalosporina de 3.a generación y cloxacilina (o clindamicina o vancomicina) por vía intravenosa. 4. En caso de requerir drenaje pleural, se recomienda la inserción ecoguiada de un catéter de pequeño tamaño. La administración intrapleural de fibrinolíticos (urocinasa) reduce la estancia hospitalaria en comparación con el drenaje pleural simple. 5. En el derrame pleural paraneumónico el tratamiento con antibioticoterapia junto con drenaje pleural y fibrinolíticos se asocia con una estancia hospitalaria y una tasa de complicaciones similar al tratamiento antibiótico más videotoracoscopia asistida. 6. Se recomienda la vacunación antineumocócica conjugada sistemática en menores de 5 años, ya que reduce la incidencia de NAC y de hospitalización por esta causa
Community-acquired pneumonia (CAP) is a prevalent disease among children and is frequently associated with both diagnostic and therapeutic uncertainties. Consensus has been reached between SEPAR, SENP and SEIP, and their conclusions are as follows: 1. Etiology depends mainly on age and other factors and no single analytical marker offers absolute diagnostic reliability. 2. In the event of clinical suspicion of pneumonia in a healthy child, chest X-ray is not necessary. Chest ultrasound is increasingly implemented as a follow-up method, and even as a diagnostic method. 3. The empirical antibiotic treatment of choice In typical forms of the disease is oral amoxicillin at a dose of 80mg/kg/day for 7 days, while in atypical presentations in children older than 5 years, macrolides should be selected. In severe typical forms, the combination of 3rd generation cephalosporins and cloxacillin (or clindamycin or vancomycin) administered intravenously is recommended. 4. If pleural drainage is required, ultrasound-guided insertion of a small catheter is recommended. Intrapleural administration of fibrinolytics (urokinase) reduces hospital stay compared to simple pleural drainage. 5. In parapneumonic pleural effusion, antibiotic treatment combined with pleural drainage and fibrinolytics is associated with a similar hospital stay and complication rate as antibiotic treatment plus video-assisted thoracoscopy. 6. Systematic pneumococcal conjugate vaccination is recommended in children under 5 years of age, as it reduces the incidence of CAP and hospitalization for this disease
Assuntos
Humanos , Criança , Infecções Comunitárias Adquiridas/diagnóstico , Infecções Comunitárias Adquiridas/terapia , Pneumonia/diagnóstico , Pneumonia/terapia , Consenso , Infecções Comunitárias Adquiridas/etiologia , Pneumonia/etiologia , Gerenciamento Clínico , EspanhaRESUMO
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