RESUMO
OBJECTIVE: The brain arteriovenous malformation (BAVM) nidus compactness score (CS), determined on angiography, predicts BAVM recurrence after surgical resection among children with sporadic BAVMs. We measured the angiographic CS for BAVMs among children with hereditary hemorrhagic telangiectasia (HHT) to determine CS characteristics in this population. METHODS: A pediatric interventional neuroradiologist reviewed angiograms to determine the CS of BAVMs in children with HHT recruited to the BVMC. CS is based on overall nidus and perinidal anomalous vessel compactness. CS categories included 1 = diffuse nidus, 2 = intermediate nidus, and 3 = compact nidus. RESULTS: Forty-eight of 78 children (61.5%) with HHT and brain vascular malformations had a conventional angiogram; 47 (97.9%) angiograms were available. Fifty-four BAVMs were identified in 40 of these 47 children (85.1%). Of 54 BAVMs in children with HHT, CS was 1 in 7 (13%), 2 in 29 (53.7%), and 3 in 18 BAVMs (33.3%) compared with CS of 1 in six (26.1%), 2 in 15 (65.2%), and 3 in 2 BAVMs (8.7%) among 23 previously reported children with sporadic BAVMs, p = 0.045 (Fisher's exact). Seven children with HHT had intracranial hemorrhage: 4 had CS = 3, 1 had CS = 2, and 2 had CS = 1. CONCLUSIONS: A range of CSs exists across HHT BAVMs, suggesting it may be an angiographic measure of interest for future studies of BAVM recurrence and hemorrhage risk. Children with HHT may have more compact niduses compared to children with sporadic BAVMs. Additional research should determine whether CS affects hemorrhage risk or post-surgical recurrence risk in HHT-associated BAVMs, which could be used to direct BAVM treatment.
Assuntos
Angiografia Cerebral , Malformações Arteriovenosas Intracranianas , Telangiectasia Hemorrágica Hereditária , Humanos , Telangiectasia Hemorrágica Hereditária/complicações , Telangiectasia Hemorrágica Hereditária/diagnóstico por imagem , Telangiectasia Hemorrágica Hereditária/epidemiologia , Criança , Masculino , Feminino , Malformações Arteriovenosas Intracranianas/diagnóstico por imagem , Malformações Arteriovenosas Intracranianas/complicações , Malformações Arteriovenosas Intracranianas/cirurgia , Pré-Escolar , Adolescente , LactenteRESUMO
OBJECTIVE: To assess the utility of the Curaçao criteria by age over time in children with hereditary hemorrhagic telangiectasia (HHT). STUDY DESIGN: This was a single-center, retrospective analysis of patients attending the HHT clinic at the Hospital for Sick Children (Toronto, Canada) between 2000 and 2019. The evaluation of the Curaçao criteria was completed during initial and follow-up visits. Screening for pulmonary and brain arteriovenous malformations was completed at 5 yearly intervals. RESULTS: A total of 116 patients with genetic confirmation of HHT were included in the analysis. At initial screening at a median (IQR) age of 8.4 (2.8, 12.9) years, 41% met criteria for a definite clinical diagnosis (≥3 criteria). In children <6 years at presentation, only 23% fulfilled at least 3 criteria initially. In longitudinal follow-up, 63% reached a definite clinical diagnosis, with a median (IQR) follow-up duration of 5.2 (3.2, 7.9) years (P = .005). Specifically, more patients met the epistaxis and telangiectasia criteria at last visit compared with initial (79% vs 60%; P = .006; 47% vs 30%; P = .02) but not for the arteriovenous malformation criterion (59% vs 57%; P = .65). CONCLUSIONS: In the pediatric population, most patients do not meet definite clinical criteria of HHT at initial presentation. Although the number of diagnostic criteria met increased over time, mainly due to new onset of epistaxis and telangiectasia, accuracy remained low during follow-up visits. Relying solely on clinical criteria may lead to underdiagnosis of HHT in children.
Assuntos
Malformações Arteriovenosas , Telangiectasia Hemorrágica Hereditária , Humanos , Criança , Telangiectasia Hemorrágica Hereditária/diagnóstico , Telangiectasia Hemorrágica Hereditária/genética , Estudos Retrospectivos , Curaçao , Epistaxe/etiologia , Mutação , Endoglina/genética , Receptores de Activinas Tipo II/genética , Malformações Arteriovenosas/diagnóstico , Malformações Arteriovenosas/genéticaRESUMO
Treatment of primary ciliary dyskinesia pulmonary exacerbations resulted in an increase in sputum nitric oxide (NO) metabolites and decrease in neutrophilic inflammation. The association between the 2 suggests that neutrophilic inflammation contributes to airway NO deficiency in primary ciliary dyskinesia and that reducing inflammation may lead to improved airway NO homeostasis. TRIAL REGISTRY: ClinicalTrials.gov: NCT01155115.
Assuntos
Transtornos da Motilidade Ciliar , Óxido Nítrico , Criança , Humanos , Inflamação , Pulmão , Óxido Nítrico/metabolismo , TóraxRESUMO
The evolution of pulmonary arteriovenous malformations (PAVMs) over time in children with hereditary hemorrhagic telangiectasia (HHT) is not well-defined. Herein we demonstrate that, although new PAVMs did not evolve in children with HHT, existing PAVMs exhibit quantitative growth over time highlighting the need for ongoing follow-up throughout childhood.
Assuntos
Fístula Arteriovenosa/complicações , Malformações Arteriovenosas/complicações , Artéria Pulmonar/anormalidades , Veias Pulmonares/anormalidades , Telangiectasia Hemorrágica Hereditária/complicações , Adolescente , Fístula Arteriovenosa/diagnóstico por imagem , Fístula Arteriovenosa/genética , Malformações Arteriovenosas/diagnóstico por imagem , Malformações Arteriovenosas/genética , Criança , Pré-Escolar , Feminino , Humanos , Pulmão/diagnóstico por imagem , Masculino , Mutação , Artéria Pulmonar/diagnóstico por imagem , Veias Pulmonares/diagnóstico por imagem , Análise de Regressão , Estudos Retrospectivos , Telangiectasia Hemorrágica Hereditária/diagnóstico por imagem , Telangiectasia Hemorrágica Hereditária/genéticaRESUMO
Transthoracic contrast echocardiography (TTCE) has high sensitivity but low specificity in screening for pulmonary arteriovenous malformations (pAVMs) in children with hereditary hemorrhagic telangiectasia (HHT). Here we describe characteristics of TTCE that might be used to reduce the need for confirmatory computed tomography scans in children with HHT.
Assuntos
Fístula Arteriovenosa/diagnóstico por imagem , Ecocardiografia/métodos , Artéria Pulmonar/anormalidades , Veias Pulmonares/anormalidades , Telangiectasia Hemorrágica Hereditária/complicações , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Artéria Pulmonar/diagnóstico por imagem , Veias Pulmonares/diagnóstico por imagem , Estudos Retrospectivos , Sensibilidade e EspecificidadeRESUMO
OBJECTIVE: To explore the psychosocial implications of diagnostic uncertainty that result from inconclusive results generated by newborn bloodspot screening (NBS) for cystic fibrosis (CF). STUDY DESIGN: Using a mixed methods prospective cohort study of children who received NBS for CF, we compared psychosocial outcomes of parents whose children who received persistently inconclusive results with those whose children received true positive or screen-negative results. RESULTS: Mothers of infants who received inconclusive results (n = 17), diagnoses of CF (n = 15), and screen-negative results (n = 411) were surveyed; 23 parent interviews were completed. Compared with mothers of infants with true positive/screen-negative results, mothers of infants with inconclusive results reported greater perceived uncertainty (P < .006) but no differences in anxiety or vulnerability (P > .05). Qualitatively, parents valued being connected to experts but struggled with the meaning of an uncertain diagnosis, worried about their infant's health-related vulnerability, and had mixed views about surveillance. CONCLUSION: Inconclusive CF NBS results were not associated with anxiety or vulnerability but led to health-related uncertainty and qualitative concerns. Findings should be considered alongside efforts to optimize protocols for CF screening and surveillance. Educational and psychosocial supports are warranted for these families.
Assuntos
Fibrose Cística/diagnóstico , Triagem Neonatal/psicologia , Adulto , Ansiedade/etiologia , Feminino , Humanos , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Pais/psicologia , Estudos Prospectivos , Incerteza , Adulto JovemRESUMO
The rate of lung clearance is a measure of the ventilation inhomogeneity determined during multiple breath washout (MBW). Higher values of lung clearance index (LCI) indicate greater ventilation inhomogeneity. The test is performed during tidal breathing, needs little cooperation and coordination, and can be done in all age groups. Different tracer gases can be used; the most common are gas nitrogen as resident gas and sulfohexafluoride (SF6) as an exogenous gas.LCI has been used in various pediatric diseases, such as asthma, bronchopulmonary dysplasia and especially in patients with cystic fibrosis (CF), where high LCI values had been a more sensitive tool that spirometry to detect the early disease and bronchiectasis. It has also been used to monitor the progression of early lung disease, since the value of LCI in preschoolers predicted FEV1 in children of school age. Finally, in patients older than 6 years LCI has proven to be a useful tool to assess response to interventions in patients with normal lung function test. In conclusion the use of LCI is very promising in CF patients with early stages of the disease, and in the clinical monitoring of patients with CF. Its role in other respiratory diseases such as asthma, is still to be determined.
El índice de aclaramiento de pulmón (LCI) es una medida de la falta de homogeneidad de ventilación determinado durante el lavado pulmonar de múltiples respiraciones (MBW). Los valores más altos de LCI indican mayor inhomogeneidad de ventilación. La prueba se realiza durante respiración corriente y necesita poca cooperación y coordinación, por lo que se puede realizar en todos los grupos de edad. Pueden utilizarse diferentes gases trazadores; los más comunes son el nitrógeno como gas residente y sulfohexafluoride (SF6) como gas exógeno.LCI ha sido utilizado en diferentes enfermedades en pediatría, tales como asma, displasia broncopulmonar y especialmente fibrosis quística (FQ). En esta última los valores elevados de LCI son una herramienta más sensible quela espirometría para la detección de la enfermedad pulmonar precoz y bronquiectasias. También ha sido utilizado para monitorizar la progresión de la enfermedad pulmonar, ya que el valor de LCI en los niños en edad preescolar predice el VEF1 en edad escolar. Finalmente en pacientes mayores de 6 años LCI ha demostrado ser una herramienta útil para evaluarla respuesta a intervenciones en pacientes con función pulmonar normal. En conclusión el uso de LCI es muy prometedor en pacientes con FQ en etapa precoz de la enfermedad, su rolen el monitoreo clínico de los pacientes con FQ. En otras enfermedades de las vías respiratorias, como el asma, esto aún está por definirse.
Assuntos
Humanos , Criança , Pneumopatias/fisiopatologia , Testes de Função Respiratória/métodos , Asma/fisiopatologia , Bronquiolite Obliterante/fisiopatologia , Fibrose Cística/fisiopatologiaRESUMO
The diagnostic yield of rescreening children with hereditary hemorrhagic telangiectasia at regular intervals for arteriovenous malformations is unclear. Here, we show that when children with initially negative screening were reassessed after 5 years, no new arteriovenous malformations were detected suggesting that longer intervals between screenings may be adequate.
Assuntos
Malformações Arteriovenosas/diagnóstico , Programas de Rastreamento/métodos , Telangiectasia Hemorrágica Hereditária/diagnóstico , Adolescente , Criança , Feminino , Humanos , Masculino , LinhagemRESUMO
It is unclear whether pulmonary arteriovenous malformations (PAVMs) in hereditary hemorrhagic telangiectasia develop later in life or are preformed in childhood. We show that the prevalence of PAVMs in children is similar to that in their parents, providing evidence against de novo PAVM formation in hereditary hemorrhagic telangiectasia.
Assuntos
Malformações Arteriovenosas/epidemiologia , Malformações Arteriovenosas/etiologia , Artéria Pulmonar , Veias Pulmonares , Telangiectasia Hemorrágica Hereditária/complicações , Adolescente , Adulto , Malformações Arteriovenosas/genética , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Pais , Prevalência , Estudos Retrospectivos , Telangiectasia Hemorrágica Hereditária/genéticaRESUMO
OBJECTIVE: To evaluate the utility of transthoracic contrast echocardiography (TTCE) as a screening tool for pulmonary arteriovenous malformations (PAVMs) in children with hereditary hemorrhagic telangiectasia (HHT). STUDY DESIGN: This was a single-center study of children who underwent baseline screening for PAVMs using both TTCE and chest computed tomography (CT) for evaluation of HHT. The CT and TTCE results were prospectively reviewed independently by 2 radiologists and 2 cardiologists blinded to the study results. RESULTS: Both intraobserver and interobserver agreement for interpreting TTCE results were excellent (κ = 0.97 and 0.92, respectively) and higher than the interobserver agreement for CT interpretation (κ = 0.75). The sensitivity and specificity of TTCE to predict PAVMs were 1 and 0.82, respectively, and the positive predictive and negative predictive values were 0.39 and 1, respectively. CONCLUSION: TTCE is a sensitive test for PAVMs in children with suspected HHT and can be a useful initial screening tool in pediatric HHT.
Assuntos
Malformações Arteriovenosas/diagnóstico por imagem , Meios de Contraste , Ecocardiografia/estatística & dados numéricos , Programas de Rastreamento/métodos , Artéria Pulmonar/anormalidades , Veias Pulmonares/anormalidades , Telangiectasia Hemorrágica Hereditária/diagnóstico por imagem , Adolescente , Criança , Pré-Escolar , Diagnóstico Diferencial , Ecocardiografia/métodos , Humanos , Lactente , Recém-Nascido , Masculino , Valor Preditivo dos Testes , Artéria Pulmonar/diagnóstico por imagem , Veias Pulmonares/diagnóstico por imagem , Reprodutibilidade dos Testes , Estudos Retrospectivos , Índice de Gravidade de DoençaRESUMO
OBJECTIVES: Nasal nitric oxide (nNO) is a reliable non-invasive screening test for primary ciliary dyskinesia (PCD), but the recommended technique, exhalation against resistance (ER), requires cooperation limiting its use in young children. Our objectives were to determine whether easier non-velum closure techniques have the ability to discriminate PCD and longitudinal reproducibility. STUDY DESIGN: We conducted a case-control study evaluating 5 breathing techniques (ER, breath hold, tidal breathing mouth open, tidal breathing mouth closed, and humming) for measuring nNO in patients with PCD compared with control subjects (cystic fibrosis [CF], non-PCD non-CF bronchiectasis, and healthy). A subgroup repeated measurements 1 month later. Sensitivity, specificity, and intraclass correlation coefficient of each nNO technique were determined. RESULTS: We tested 85 children (20 PCD, 32 CF, 14 broncheoctasis, and 19 healthy), aged 5 to 18 years (mean age, 11.5 years); 52% of children were male. All breathing techniques discriminated patients with PCD from control subjects with high specificity (>90%), 100% sensitivity, and intraclass correlation coefficient >0.8. nNO output cutoff values for diagnosing PCD varied with techniques (ER, 59 nL/min; breath hold, 61 nL/min; tidal breathing mouth open, 37 nL/min; tidal breathing mouth closed, 30 nL/min; humming, 41 nL/min). CONCLUSION: Non-velum closure techniques are reproducible and valid to discriminate PCD; however, they generally yield lower values than ER.
Assuntos
Testes Respiratórios/métodos , Transtornos da Motilidade Ciliar/diagnóstico , Óxido Nítrico/metabolismo , Adolescente , Bronquiectasia/metabolismo , Estudos de Casos e Controles , Criança , Pré-Escolar , Fibrose Cística/metabolismo , Feminino , Humanos , Estudos Longitudinais , Masculino , Sensibilidade e EspecificidadeRESUMO
OBJECTIVE: To determine the microbiological yield of induced sputum (IS) samples compared with conventional airway samples, spontaneously expectorated sputum and throat swabs, in children with cystic fibrosis (CF) attending an outpatient clinic. STUDY DESIGN: Ninety-five children with CF (75 able to spontaneously expectorate sputum) were included in this prospective cross-sectional comparative study. After obtaining expectorated sputum or throat swabs samples, IS was obtained by performing the sputum induction procedure using an eFlow device (PARI, Starnberg, Germany). CF bacterial culture results were compared between the two procedures. RESULTS: Differences in culture results between samples were observed in 25 of 94 (27%) patients. IS had a significantly higher yield for CF pathogens, with 80% of the differences being due to detection of additional organisms in IS samples. Overall, SI was well tolerated, but 12 of 95 cases had a >20% postinduction decline in forced expiratory volume in 1 second. The whole SI procedure took 30 to 85 minutes of clinic time, and its estimated additional cost was $150 (US)/patient. CONCLUSIONS: Induced sputum has a higher microbiological yield compared with the conventional samples in children with CF, even in patients capable of expectorating sputum spontaneously. Although sputum induction is safe and tolerable, it is time-consuming and expensive in routine clinical settings.
Assuntos
Fibrose Cística/microbiologia , Escarro/microbiologia , Adolescente , Criança , Estudos Transversais , Feminino , Humanos , Masculino , Estudos ProspectivosRESUMO
The expression of muscle membrane-associated neuronal nitric oxide synthase (NOS1) is significantly impaired in Duchenne muscular dystrophy. Mean (+/- SEM) exhaled NO in 13 male patients with Duchenne muscular dystrophy was significantly lower than in 11 healthy age-matched male control subjects (7.5 +/- 1.4 vs 16.6 +/- 3.2 parts per billion, P <.02) or 17 adult male control subjects (18.5 +/- 1.8 parts per billion, P <.001). These findings provide indirect evidence that NOS1 contributes significantly to fractional exhaled nitric oxide in healthy children.