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1.
Eur Respir J ; 64(2)2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-38871375

RESUMEN

BACKGROUND: Primary ciliary dyskinesia (PCD) represents a group of rare hereditary disorders characterised by deficient ciliary airway clearance that can be associated with laterality defects. We aimed to describe the underlying gene defects, geographical differences in genotypes and their relationship to diagnostic findings and clinical phenotypes. METHODS: Genetic variants and clinical findings (age, sex, body mass index, laterality defects, forced expiratory volume in 1 s (FEV1)) were collected from 19 countries using the European Reference Network's ERN-LUNG international PCD Registry. Genetic data were evaluated according to American College of Medical Genetics and Genomics guidelines. We assessed regional distribution of implicated genes and genetic variants as well as genotype correlations with laterality defects and FEV1. RESULTS: The study included 1236 individuals carrying 908 distinct pathogenic DNA variants in 46 PCD genes. We found considerable variation in the distribution of PCD genotypes across countries due to the presence of distinct founder variants. The prevalence of PCD genotypes associated with pathognomonic ultrastructural defects (mean 72%, range 47-100%) and laterality defects (mean 42%, range 28-69%) varied widely among countries. The prevalence of laterality defects was significantly lower in PCD individuals without pathognomonic ciliary ultrastructure defects (18%). The PCD cohort had a reduced median FEV1 z-score (-1.66). Median FEV1 z-scores were significantly lower in CCNO (-3.26), CCDC39 (-2.49) and CCDC40 (-2.96) variant groups, while the FEV1 z-score reductions were significantly milder in DNAH11 (-0.83) and ODAD1 (-0.85) variant groups compared to the whole PCD cohort. CONCLUSION: This unprecedented multinational dataset of DNA variants and information on their distribution across countries facilitates interpretation of the genetic epidemiology of PCD and indicates that the genetic variant can predict diagnostic and phenotypic features such as the course of lung function.


Asunto(s)
Estudios de Asociación Genética , Genotipo , Fenotipo , Humanos , Masculino , Femenino , Adulto , Niño , Adolescente , Adulto Joven , Persona de Mediana Edad , Europa (Continente) , Sistema de Registros , Dineínas Axonemales/genética , Volumen Espiratorio Forzado , Preescolar , Síndrome de Kartagener/genética , Síndrome de Kartagener/fisiopatología , Variación Genética , Mutación , Anciano , Lactante , Proteínas del Citoesqueleto , Proteínas
2.
Eur J Pediatr ; 183(8): 3193-3197, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-38679661

RESUMEN

Though PCD usually presents after birth in term neonates, diagnosing PCD during the neonatal and infancy stages is uncommon, particularly in children who do not exhibit laterality defects. We report our recent experience with the diagnosis of PCD in the neonatal and early infantile period in a highly consanguine population. This was achieved by implementing a novel genetic-based diagnostic approach based on direct testing for recognized regional genetic variants. We conducted a retrospective analysis of children diagnosed with PCD at Soroka University Medical Center during the neonatal or early infantile period between 2020 and 2023. We included children under 3 months of age who had a genetic confirmation of PCD, as evidenced by the presence of two pathogenic variants in recognized genes. Genetic testing targeted regional genetic variants in previously identified PCD genes. Eight patients were included. The median age at diagnosis was 12.5 days. Three (38%) were born prematurely < 34 weeks gestational age. All patients were presented with respiratory distress and hypoxemia after birth. The median duration of oxygen support was 23 days, and upper lobe atelectasis was present in five patients (63%). Congenital cardiac malformation was present in four patients. Organ laterality defects were present in four patients. Genetic mutations identified were in the DNAAF5, DNAL1, DNAAF3, and DNAH1 genes.     Conclusion: Neonatal diagnosis of PCD is uncommon, especially in atypical presentations such as children without laterality defects or preterms. Focusing on a genetic diagnosis of the local tribal pathogenic variants promotes a potential cost-efficient test leading to earlier diagnosis. There is a need for a standardized protocol for earlier diagnosis of PCD in high-consanguinity areas. What is Known: • Primary ciliary dyskinesia (PCD) typically presents after birth in term neonates. • Diagnosing PCD during neonatal and infancy stages is challenging, particularly in children without laterality defects. What is New: • A novel genetic-based diagnostic approach was implemented on the neonatal population in a highly consanguine community, focusing on direct testing for regional genetic variants, leading to early and rapid diagnosis of PCD.


Asunto(s)
Consanguinidad , Pruebas Genéticas , Humanos , Recién Nacido , Estudios Retrospectivos , Masculino , Femenino , Pruebas Genéticas/métodos , Lactante , Síndrome de Kartagener/diagnóstico , Síndrome de Kartagener/genética , Centros de Atención Terciaria , Mutación
3.
Eur J Pediatr ; 183(2): 815-825, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-38017338

RESUMEN

Foreign body aspiration (FBA) is a common cause of pediatric morbidity, but a standardized protocol to guide decision-making about bronchoscopy is lacking. We aimed to validate a new Foreign body aspiration score (FOBAS) for the pediatric emergency department (ED). Patients aged 0-18 years referred to the ED for suspected FBA were prospectively enrolled. FOBAS was calculated according to clinical features of a choking episode, sudden cough, exposure to nuts, absence of fever and rhinitis, stridor, and unilateral auscultatory and radiological findings. FBA risk was evaluated based on the total score (low, 1-3; moderate, 4-6; high, 7-10). Low-risk children were discharged from the ED and followed clinically. Moderate-risk children were hospitalized and evaluated by a pediatric pulmonologist, and high-risk children were referred directly for therapeutic bronchoscopy. Among the 100 enrolled children (59% males; median age 20 [interquartile range 11-39] months), a foreign body was diagnosed in 1/49 (2%), 14/41 (34.1%), and 9/10 (90%) with low, moderate, and high FOBAS, respectively (P < .001). Logistic regression indicated a higher risk for FBA with higher scores. The odds ratio for each additional point was 2.75 (95% confidence interval 1.78-4.24), and FOBAS showed a high predictive value for FBA (area under the curve 0.89). FOBAS implementation significantly reduced the rate of negative bronchoscopies, from 67.4% annually during 2016-2019 to 50% in 2020 (P = .042). CONCLUSION: FOBAS reliably predicts FBA in cases of suspected FBA and improves management and in-hospital decision-making. WHAT IS KNOWN: • Foreign body aspiration is a major cause of pediatric morbidity and mortality. • Currently, there is no unified protocol for children referred to the emergency department for suspected FBA, therefore, a well-defined algorithm is needed to improve the decision-making process. WHAT IS NEW: • The pediatric Foreign body aspiration score (FOBAS) is a new, prospectively validated clinical score that shows high sensitivity and specificity for the presence of FBA in children. • FOBAS reduces unnecessary admissions and invasive procedures and leads to better clinical outcomes.


Asunto(s)
Obstrucción de las Vías Aéreas , Cuerpos Extraños , Masculino , Niño , Humanos , Lactante , Preescolar , Femenino , Estudios Retrospectivos , Aspiración Respiratoria/diagnóstico , Aspiración Respiratoria/etiología , Aspiración Respiratoria/terapia , Broncoscopía/efectos adversos , Broncoscopía/métodos , Obstrucción de las Vías Aéreas/diagnóstico , Obstrucción de las Vías Aéreas/etiología , Obstrucción de las Vías Aéreas/terapia , Algoritmos , Cuerpos Extraños/diagnóstico , Cuerpos Extraños/terapia , Cuerpos Extraños/complicaciones
4.
Eur J Pediatr ; 183(7): 2913-2919, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38613577

RESUMEN

Thermal epiglottitis, a non-infectious cause of epiglottitis, is a rare entity that shares some clinical features with infectious epiglottitis. This study presents 16 years of experience in diagnosing and managing thermal epiglottitis. A retrospective descriptive study in a tertiary center in southern Israel included confirmed cases of thermal epiglottitis in children (0-18 years) between 2004 and 2020 by endoscopy. Of approximately 600,000 pediatric ER admissions between 2004 and 2020, seven children were diagnosed by endoscopy with thermal epiglottitis (mean age 24 months, 71% males). Clinical presentation included stridor, respiratory distress, and drooling. Four children had fever and elevated inflammatory markers at presentation and were treated with systemic antibiotics. All were treated with systemic steroids. The median length of stay in the PICU was five days, and four patients required intubations. All fully recovered without experiencing any sequelae.  Conclusion: Thermal epiglottitis stands as a potential contributor to acute upper airway obstruction. Although it's rarity, it should be discussed in any child with acute upper airway obstruction. It is essential to inquire directly about the accidental intake of hot beverages, particularly in cases lacking fever or elevated inflammatory markers. What is Known: • Thermal epiglottitis is a rare, non-infectious condition sharing clinical features with infectious epiglottitis. • Common presentations include stridor, respiratory distress, and drooling. What is New: • Thermal epiglottitis is a potential contributor to acute upper airway obstruction, urging consideration even in the absence of fever or elevated markers. • Direct inquiry about hot beverage intake for diagnosis is essential for diagnosis.


Asunto(s)
Epiglotitis , Centros de Atención Terciaria , Humanos , Epiglotitis/diagnóstico , Masculino , Estudios Retrospectivos , Femenino , Preescolar , Lactante , Niño , Centros de Atención Terciaria/estadística & datos numéricos , Adolescente , Israel/epidemiología , Antibacterianos/uso terapéutico
5.
Eur J Pediatr ; 2024 Sep 09.
Artículo en Inglés | MEDLINE | ID: mdl-39245659

RESUMEN

Bronchopulmonary dysplasia (BPD) poses a significant challenge as the most common late morbidity of preterm infants. This study aimed to evaluate airway abnormalities in infants with BPD who underwent flexible bronchoscopy (FB) to gain insights into the prevalence of upper airway obstruction and associated complications. A retrospective case-control study was conducted on BPD patients who underwent FB at a tertiary center between 2013 and 2023. BPD patients were matched (1:3) with a reference group based on age, gender, and ethnicity, who also had undergone FB. Demographic data, comorbidities, indications for FB, findings, and complications during and after FB were collected. The study included 50 BPD patients (mean age 1.26 ± 0.9 years, 58% males), and 150 controls. As expected, BPD patients had a lower gestational age, lower birth weight, and longer hospitalizations and were treated with more medications. Abnormal bronchoscopy findings were significantly more common in the BPD group compared to the reference group, with an increased rate of turbinate hypertrophy (OR [95% CI]: 3.44 [1.27-9.37], P = 0.014), adenoid hypertrophy (OR: 2.7 [1.38-5.29], P = 0.004), lingual tonsils (OR: 5.44 [1.29-27.4], P = 0.0024), subglottic stenosis (OR: 6.95 [2.08-27.1], P = 0.002), and tracheomalacia (OR: 2.98 [1.06-8.19], P = 0.034). Complications including desaturation (OR: 3.89 [1.32-11.7], P = 0.013) and PICU admission (OR: 16.6 [2.58-322], P = 0.011) were more frequent in the BPD than in the reference group. CONCLUSION: The study revealed a high prevalence of structural anomalies leading to upper airway obstruction and complications in infants with BPD undergoing FB. These findings emphasize the importance of careful consideration and preparation for bronchoscopic procedures in this vulnerable population. WHAT IS KNOWN: • Bronchopulmonary dysplasia (BPD) represents the most prevalent late morbidity among preterm infants. • Preterm infants diagnosed with BPD frequently undergo diagnostic procedures, including flexible and rigid bronchoscopies, to identify structural pathologies within the respiratory tract. WHAT IS NEW: • A significantly higher prevalence of structural anomalies leading to upper airway obstruction was observed in the BPD group compared to controls. • The incidence of complications during flexible bronchoscopy was higher in the BPD group than in controls.

6.
Eur J Pediatr ; 182(9): 4205-4212, 2023 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-37450025

RESUMEN

Foreign Body Aspiration (FBA) is a common medical emergency among young children, but the evaluation and management of a suspected FBA case can vary across physicians and centers. We aimed to identify which clinical, laboratory, and radiological findings can predict FBA in children and to evaluate a clinical score to improve FBA prediction. This is a retrospective cohort study of patients aged 0-18 years admitted to Soroka University Medical Center between 2010 and 2020 with suspected FBA. All patients underwent flexible bronchoscopy and were divided into positive and negative FBA groups. A newly developed foreign body aspiration score (FOBAS), based on medical history, physical examination, and chest X-ray findings, was evaluated for its predictability. The study included 412 children (median age 21 months, 56.8% females), of whom 154 (37.4%) had FBA and 258 (62.6%) did not. Multivariate regression analysis showed exposure to nuts/seeds, unilateral wheezing or decreased breath sounds, stridor, and suggestive findings on chest X-ray were significant risk factors for FBA (OR [95%CI] -1.994[1.290-3.082], 1.487[1.206-1.832], 1.883 [1.011-3.509] and 2.386[1.917-2.970], respectively). However, a choking episode, acute cough, and absence of fever and rhinorrhea did not predict FBA. FOBAS showed an increased risk of FBA for each additional point of the score, with an odds ratio of 1.572 (95% CI-1.389-1.799).  Conclusion: FOBAS is a good predictor for the presence of FBA in children. Once prospectively validated, FOBAS could aid in decision-making at the emergency department, enabling more standardized care, reducing unnecessary procedures, and leading to better clinical outcomes. What is Known: • The evaluation and management of a child with suspected foreign body aspiration (FBA) vary across physicians and centers, without a consensus regarding the indications and criteria for performing bronchoscopy. • Flexible bronchoscopy is the standard procedure for the diagnosis and sometimes treatment of FBA in children, but it may hold potential complications. What is New: • We propose a newly developed foreign body aspiration score (FOBAS), based on medical history, physical examination, and chest X-ray findings, for the prediction of FBA in children at the emergency department. • The FOBAS is a good predictor of FBA in children. The score enables more standardized care and may reduce unnecessary procedures.


Asunto(s)
Cuerpos Extraños , Femenino , Niño , Humanos , Lactante , Preescolar , Masculino , Estudios Retrospectivos , Cuerpos Extraños/diagnóstico , Cuerpos Extraños/complicaciones , Broncoscopía/efectos adversos , Broncoscopía/métodos , Radiografía , Tos/etiología , Ruidos Respiratorios/etiología
7.
Eur J Pediatr ; 182(7): 3101-3109, 2023 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-37081195

RESUMEN

Chest X-ray (CXR) is an important tool in the assessment of children with suspected foreign body aspiration (FBA), although it can falsely be interpreted as normal in one-third of the cases. The aim of this study is to evaluate the positive predictive value of CXR in children hospitalized with suspected FBA, when interpreted by three disciplines: pediatric pulmonology, pediatric radiology, and pediatric residents. This is a retrospective study that included children aged 0-18 years, admitted with suspected FBA, between 2009 and 2020 in one tertiary center. All patients underwent CXR and a flexible/rigid bronchoscopy for the definitive diagnosis of FBA, up to 1 week apart. Two physicians from each discipline interpreted the CXR, independently. Intra-raters' and inter-raters' agreements were assessed. Sensitivity, specificity, and area under the curve (AUC) were calculated for each discipline. Four hundred seventy-three children were included in the study, 175 (37%) with FBA and 298 (63%) without FBA on flexible/rigid bronchoscopy. The most common radiological findings, as interpreted by a pediatric pulmonologist, were unilateral hyperinflation (47%), radiopaque FB (37.6%), lobar atelectasis (10.3%), unilateral hyperinflation with atelectasis (3.4%), and lobar consolidation (1.7%). Intra-raters' agreement ranged from 0.744 (p < 0.001) among pediatric pulmonologists to 0.326 (p < 0.001) among pediatric radiologists. AUC for predicting FBA based on a CXR was 0.81, 0.77, and 0.7 when interpreted by pediatric pulmonologists, pediatric residents, and radiologists, respectively (p < 0.001). CONCLUSIONS: CXR has a high positive predictive value and independently predicts FBA in children; however, normal CXR should not rule out FBA. Predictability is variable among different disciplines. WHAT IS KNOWN: • Chest X-ray is an important tool in the assessment of children with suspected foreign body aspiration (FBA). • Chest X-ray can be interpreted as normal in one-third of the cases. WHAT IS NEW: • Chest X-ray independently predicts FBA in children, with a high positive predictive value. • The ability of chest x-ray to predict FBA in children differs between pediatric residents, pediatric radiologists, and pediatric pulmonologists.


Asunto(s)
Cuerpos Extraños , Atelectasia Pulmonar , Niño , Humanos , Lactante , Estudios Retrospectivos , Neumólogos , Rayos X , Broncoscopía , Cuerpos Extraños/diagnóstico por imagen , Radiólogos
8.
Eur J Pediatr ; 180(5): 1443-1450, 2021 May.
Artículo en Inglés | MEDLINE | ID: mdl-33389071

RESUMEN

Rigid bronchoscopy is the procedure of choice for removal of inhaled foreign bodies. In this retrospective study, we assessed the safety and efficacy of flexible bronchoscopy use in the removal of inhaled foreign bodies in children. One hundred eighty-two patients (median age of 24 months, 58% males) underwent an interventional bronchoscopy for the removal of inhaled foreign body between 2009 and 2019, 40 (22%) by flexible, and 142 (78%) by rigid bronchoscopy. 88.73% of rigid and 95% of flexible bronchoscopies were successful in foreign bodies removal (p value = 0.24). Complication rate was higher among rigid bronchoscopy (9.2% vs. 0%, p = 0.047). From 2017 onwards, following the implementation of flexible bronchoscopy for foreign bodies removal, 64 procedures were performed, 33 (51.6%) flexible, and 31 (48.4%) rigid. Procedure length was shorter via flexible bronchoscopy (42 vs 58 min, p = 0.016). Length of hospital stay was similar.Conclusion: In our hands, flexible bronchoscopy is an efficient and safe method for removal of inhaled foreign bodies in children, with shorter procedure time and minimal complication rate. Flexible bronchoscopy could be considered as the procedure of choice for removal of inhaled foreign bodies in children, by an experienced multidisciplinary team. What is Known: • Rigid bronchoscopy is currently the gold standard for removal of inhaled foreign bodies in children. • Rigid bronchoscopy has a relatively high complication rate compared to flexible bronchoscopy. What is New: • Flexible bronchoscopy is a short, safe, and efficient procedure to remove inhaled foreign bodies in children, compared to rigid bronchoscopy. • Flexible bronchoscopy could be proposed as the procedure of choice for removal of inhaled foreign bodies in children, if an experienced operator is available.


Asunto(s)
Broncoscopía , Cuerpos Extraños , Bronquios , Niño , Preescolar , Femenino , Cuerpos Extraños/diagnóstico , Cuerpos Extraños/terapia , Humanos , Lactante , Masculino , Estudios Retrospectivos , Tráquea
9.
J Emerg Med ; 61(4): e80-e83, 2021 10.
Artículo en Inglés | MEDLINE | ID: mdl-34148775

RESUMEN

BACKGROUND: Spontaneous pneumomediastinum (SPM) occurs in cases of mediastinal leaks that are not caused by trauma, mechanical ventilation, or other surgical procedures. In most cases, in the pediatric population a trigger can be identified, most commonly asthma. SPM caused by foreign body aspiration is not a common entity. It is usually a benign condition that generally resolves without severe sequela, but in some cases, severe morbidity and mortality have been documented. Treatment is usually conservative and includes rest, analgesics, and treatment of any underlying pathologies. CASE REPORT: We report a case of a 19-month-old boy who presented to the emergency department with acute facial swelling and wheezing with no history of foreign body aspiration. This misleading presentation led the medical staff in the emergency department to initially treat the patient for anaphylaxis. The diagnosis was made only after imaging modalities demonstrated SPM with a suspected foreign body in the right main stem bronchus. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: Providers should consider SPM from an aspirated foreign body in young children with respiratory distress and acute facial swelling, especially when crepitus is present. © 2021 Elsevier Inc.


Asunto(s)
Asma , Cuerpos Extraños , Enfisema Mediastínico , Enfisema Subcutáneo , Niño , Preescolar , Disnea , Cuerpos Extraños/complicaciones , Humanos , Lactante , Masculino , Enfisema Mediastínico/etiología , Enfisema Subcutáneo/etiología
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