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Background: Despite recent developments, the role of sirolimus in the heterogeneous spectrum of vascular anomalies is yet to be defined, in terms of indication, dosage, and therapy duration, recognizing both its potential and limitations. Methods: We retrospectively analyzed 16 children with vascular anomalies treated with sirolimus in two pediatric centers between 2014 and 2020 [male: n = 7, the median age at diagnosis: 4.6 months (range, 0-281.4)]. In addition, repetitive volumetric analyses of the vascular anomalies were performed when possible (11 cases). Results: Ten patients were diagnosed with vascular malformations and 6 with vascular tumors. The mean therapy duration was 27.2 months (range, 3.5-65). The mean sirolimus level was 8.52 ng/ml (range, 5.38-12.88). All patients except one with central conducting lymphatic anomaly responded to sirolimus, with the most noticeable volume reduction in the first 4-6 months. Additional administration of vincristine was needed in five patients with kaposiform hemangioendothelioma and yielded a response, even in cases, refractory to sirolimus monotherapy. As a single agent, sirolimus led to impressive improvement in a patient with another vascular tumor-advanced epithelioid hemangioendothelioma. Complicated vascular malformations required long-term sirolimus therapy. Side effects of sirolimus included mucositis and laboratory abnormalities. No major infectious episodes were recorded. An infant with COVID-19, diagnosed while on sirolimus therapy, presented with a mild course. Conclusion: In the current series, we reported limitations of sirolimus as monotherapy, addressing the need to redefine its indications, and explore combination regimens and multimodal treatment strategies. Tools for objective evaluation of response trends over time could serve as a basis for the establishment of future therapeutic algorithms.
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The Austrian Society of Pneumology (ASP) launched a first statement on severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in May 2020, at a time when in Austria 285 people had died from this disease and vaccinations were not available. Lockdown and social distancing were the only available measures to prevent more infections and the breakdown of the health system. Meanwhile, in Austria over 13,000 patients have died in association with a SARS-CoV2 infection and coronavirus disease 2019 (COVID-19) was among the most common causes of death; however, SARS-CoV2 has been mutating all the time and currently, most patients have been affected by the delta variant where the vaccination is very effective but the omicron variant is rapidly rising and becoming predominant. Particularly in children and young adults, where the vaccination rate is low, the omicron variant is expected to spread very fast. This poses a particular threat to unvaccinated people who are at elevated risk of severe COVID-19 disease but also to people with an active vaccination. There are few publications that comprehensively addressed the special issues with SARS-CoV2 infection in patients with chronic lung diseases. These were the reasons for this updated statement. Pulmonologists care for many patients with an elevated risk of death in case of COVID-19 but also for patients that might be at an elevated risk of vaccination reactions or vaccination failure. In addition, lung function tests, bronchoscopy, respiratory physiotherapy and training therapy may put both patients and health professionals at an increased risk of infection. The working circles of the ASP have provided statements concerning these risks and how to avoid risks for the patients.
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COVID-19 , Pneumopatias , Pneumologia , Áustria/epidemiologia , COVID-19/epidemiologia , Criança , Controle de Doenças Transmissíveis , Humanos , Pneumopatias/epidemiologia , Pneumopatias/terapia , SARS-CoV-2 , Adulto JovemRESUMO
BACKGROUND: Viral infections can cause significant morbidity in cystic fibrosis (CF). The current Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) pandemic could therefore have a serious impact on the health of people with CF (pwCF). METHODS: We used the 38-country European Cystic Fibrosis Society Patient Registry (ECFSPR) to collect case data about pwCF and SARS-CoV-2 infection. RESULTS: Up to 30 June 2020, 16 countries reported 130 SARS-CoV-2 cases in people with CF, yielding an incidence of 2.70/1000 pwCF. Incidence was higher in lung-transplanted patients (n=23) versus non-transplanted patients (n=107) (8.43 versus 2.36 cases/1000). Incidence was higher in pwCF versus the age-matched general population in the age groups <15, 15-24, and 25-49 years (p<0.001), with similar trends for pwCF with and without lung transplant. Compared to the general population, pwCF (regardless of transplantation status) had significantly higher rates of admission to hospital for all age groups with available data, and higher rates of intensive care, although not statistically significant. Most pwCF recovered (96.2%), however 5 died, of whom 3 were lung transplant recipients. The case fatality rate for pwCF (3.85%, 95% CI: 1.26-8.75) was non-significantly lower than that of the general population (7.46%; p=0.133). CONCLUSIONS: SARS-CoV-2 infection can result in severe illness and death for pwCF, even for younger patients and especially for lung transplant recipients. PwCF should continue to shield from infection and should be prioritized for vaccination.
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COVID-19/epidemiologia , Fibrose Cística/complicações , Adolescente , Adulto , COVID-19/diagnóstico , COVID-19/terapia , Criança , Pré-Escolar , Cuidados Críticos , Fibrose Cística/mortalidade , Fibrose Cística/terapia , Europa (Continente)/epidemiologia , Feminino , Hospitalização , Humanos , Incidência , Lactente , Recém-Nascido , Transplante de Pulmão , Masculino , Pessoa de Meia-Idade , Sistema de Registros , Estudos Retrospectivos , Adulto JovemRESUMO
The aim of this study was to analyze the exhaled volatile organic compounds (VOCs) profile, airway microbiome, lung function and exercise performance in congenital diaphragmatic hernia (CDH) patients compared to healthy age and sex-matched controls. A total of nine patients (median age 9 years, range 6-13 years) treated for CDH were included. Exhaled VOCs were measured by GC-MS. Airway microbiome was determined from deep induced sputum by 16S rRNA gene sequencing. Patients underwent conventional spirometry and exhausting bicycle spiroergometry. The exhaled VOC profile showed significantly higher levels of cyclohexane and significantly lower levels of acetone and 2-methylbutane in CDH patients. Microbiome analysis revealed no significant differences for alpha-diversity, beta-diversity and LefSe analysis. CDH patients had significantly lower relative abundances of Pasteurellales and Pasteurellaceae. CDH patients exhibited a significantly reduced Tiffeneau Index. Spiroergometry showed no significant differences. This is the first study to report the VOCs profile and airway microbiome in patients with CDH. Elevations of cyclohexane observed in the CDH group have also been reported in cases of lung cancer and pneumonia. CDH patients had no signs of impaired physical performance capacity, fueling controversial reports in the literature.
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Bactérias/classificação , Hérnias Diafragmáticas Congênitas/cirurgia , Herniorrafia/métodos , RNA Ribossômico 16S/genética , Compostos Orgânicos Voláteis/análise , Acetona/análise , Adolescente , Bactérias/genética , Bactérias/isolamento & purificação , Criança , DNA Bacteriano/genética , DNA Ribossômico/genética , Exercício Físico , Feminino , Hérnias Diafragmáticas Congênitas/metabolismo , Hérnias Diafragmáticas Congênitas/fisiopatologia , Humanos , Masculino , Microbiota , Pentanos/análise , Filogenia , Espirometria , Capacidade VitalRESUMO
BACKGROUND: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in people with cystic fibrosis (pwCF) can lead to severe outcomes. METHODS: In this observational study, the European Cystic Fibrosis Society Patient Registry collected data on pwCF and SARS-CoV-2 infection to estimate incidence, describe clinical presentation and investigate factors associated with severe outcomes using multivariable analysis. RESULTS: Up to December 31, 2020, 26 countries reported information on 828 pwCF and SARS-CoV-2 infection. Incidence was 17.2 per 1000 pwCF (95% CI: 16.0-18.4). Median age was 24â years, 48.4% were male and 9.4% had lung transplants. SARS-CoV-2 incidence was higher in lung-transplanted (28.6; 95% CI: 22.7-35.5) versus non-lung-transplanted pwCF (16.6; 95% CI: 15.4-17.8) (p≤0.001).SARS-CoV-2 infection caused symptomatic illness in 75.7%. Factors associated with symptomatic SARS-CoV-2 infection were age >40â years, at least one F508del mutation and pancreatic insufficiency.Overall, 23.7% of pwCF were admitted to hospital, 2.5% of those to intensive care, and regretfully 11 (1.4%) died. Hospitalisation, oxygen therapy, intensive care, respiratory support and death were 2- to 6-fold more frequent in lung-transplanted versus non-lung-transplanted pwCF.Factors associated with hospitalisation and oxygen therapy were lung transplantation, cystic fibrosis-related diabetes (CFRD), moderate or severe lung disease and azithromycin use (often considered a surrogate marker for Pseudomonas aeruginosa infection and poorer lung function). CONCLUSION: SARS-CoV-2 infection yielded high morbidity and hospitalisation in pwCF. PwCF with forced expiratory volume in 1â s <70% predicted, CFRD and those with lung transplants are at particular risk of more severe outcomes.
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Scientific Members of the Austrian Society of Pneumology describe the expected development in respiratory health and provide guidance towards patient-oriented and cost-efficient respiratory care in Austria.Methods: In November 2017, respiratory care providers (physicians, nurses, physiotherapists) together with patient's advocacy groups and experts in health development, collaborated in workshops on: respiratory health and the environment, bronchial asthma and allergy, COPD, pediatric respiratory disease, respiratory infections, sleep disorders, interventional pneumology, thoracic oncology and orphan diseases.Results: Respiratory disease is extremely prevalent and driven by ill-health behavior, i.e. cigarette smoking, over-eating and physical inactivity. For the majority of respiratory diseases increased prevalence, but decreased hospitalizations are expected.The following measures should be implemented to deal with future challenges:1. Screening and case-finding should be implemented for lung cancer and COPD.2. E-health solutions (telemedicine, personal apps) should be used to facilitate patient management.3. Regional differences in respiratory care should be reduced through Ehealth and harmonization of health insurance benefits across Austria.4. Patient education and awareness, to reduce respiratory health illiteracy should be increased, which is essential for sleep disorders but relevant also for other respiratory diseases.5. Respiratory care should be inter-professional, provided via disease-specific boards beyond lung cancer (for ILDs, sleep, allergy)6. Programs for outpatient's pulmonary rehabilitation can have a major impact on respiratory health.7. Increased understanding of molecular pathways will drive personalized medicine, targeted therapy (for asthma, lung cancer) and subsequently health care costs.
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Pneumopatias Obstrutivas , Pneumologia , Transtornos Respiratórios , Asma/terapia , Áustria , Criança , Efeitos Psicossociais da Doença , Humanos , Pneumopatias Obstrutivas/terapia , Doença Pulmonar Obstrutiva Crônica , Pneumologia/normas , Pneumologia/tendências , Transtornos Respiratórios/terapia , Sociedades MédicasRESUMO
BACKGROUND: Congenital Central Hypoventilation Syndrome (CCHS) is a rare condition characterized by an alveolar hypoventilation due to a deficient autonomic central control of ventilation and a global autonomic dysfunction. Paired-like homeobox 2B (PHOX2B) mutations are found in most of the patients with CCHS. In recent years, the condition has evolved from a life-threatening neonatal onset disorder to include broader and milder clinical presentations, affecting children, adults and families. Genes other than PHOX2B have been found responsible for CCHS in rare cases and there are as yet other unknown genes that may account for the disease. At present, management relies on lifelong ventilatory support and close follow up of dysautonomic progression. BODY: This paper provides a state-of-the-art comprehensive description of CCHS and of the components of diagnostic evaluation and multi-disciplinary management, as well as considerations for future research. CONCLUSION: Awareness and knowledge of the diagnosis and management of this rare disease should be brought to a large health community including adult physicians and health carers.
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Hipoventilação/congênito , Apneia do Sono Tipo Central , Adulto , Criança , Proteínas de Homeodomínio/genética , Humanos , Hipoventilação/diagnóstico , Hipoventilação/genética , Hipoventilação/terapia , Mutação , Apneia do Sono Tipo Central/diagnóstico , Apneia do Sono Tipo Central/genética , Apneia do Sono Tipo Central/terapia , Fatores de Transcrição/genéticaRESUMO
The coronavirus disease 2019 (COVID-19) pandemic is currently a challenge worldwide. In Austria, a crisis within the healthcare system has so far been prevented. The treatment of patients with community-acquired pneumonia (CAP), including SARS-CoV2 infections, should continue to be based on evidence-based CAP guidelines during the pandemic; however, COVID-19 specific adjustments are useful. The treatment of patients with chronic lung diseases has to be adapted during the pandemic but must still be guaranteed.
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Infecções por Coronavirus , Coronavirus , Pneumopatias/complicações , Pandemias , Pneumonia Viral , Pneumologia , Adolescente , Adulto , Áustria , Betacoronavirus , COVID-19 , Criança , Doença Crônica , Infecções por Coronavirus/complicações , Infecções por Coronavirus/diagnóstico , Infecções por Coronavirus/terapia , Humanos , Pneumopatias/terapia , Pneumonia Viral/complicações , Pneumonia Viral/diagnóstico , Pneumonia Viral/terapia , Guias de Prática Clínica como Assunto , SARS-CoV-2Assuntos
Aspergilose/diagnóstico , Cistos/diagnóstico , Laringite/diagnóstico , Laringoestenose/diagnóstico , Hipersensibilidade Respiratória/diagnóstico , Aspergilose/complicações , Aspergilose/patologia , Aspergilose/cirurgia , Aspergillus fumigatus , Criança , Fibrose Cística/complicações , Cistos/patologia , Cistos/cirurgia , Humanos , Laringite/complicações , Laringite/patologia , Laringite/cirurgia , Laringoscopia , Laringoestenose/etiologia , Laringoestenose/cirurgia , Terapia a Laser , Hipersensibilidade Respiratória/complicações , Hipersensibilidade Respiratória/patologia , Hipersensibilidade Respiratória/cirurgia , Sons Respiratórios/etiologiaRESUMO
BACKGROUND: We wanted to compare cold dry air challenge (CACh) induced changes in spirometric parameters with changes in nitrogen multiple breath washout (N2 MBW) parameters in pediatric asthma patients during clinical remission over the past year (ie, with "inactive asthma"). As N2 MBW assesses ventilation heterogeneity we expected to gain detailed information about peripheral airways contribution. METHODS: In subjects with normal spirometry N2 MBW, spirometry and body plethysmography were performed at baseline, after CACh, and after salbutamol inhalation. An initial measurement of the fraction of exhaled nitric oxide (FeNO) was conducted. RESULTS: Forty-three (20 female) subjects, mean age 13.7 years (range 6.5-18.6) performed reproducible N2 MBW measurements. Ten were tested hyperresponsive (23.3%) and 33 normoresponsive (76.7%). Baseline spirometry and body plethysmography as well as FRC (N2 MBW) were similar in both groups. Scond (0.031 vs 0.022), Sacin (0.057 vs 0.067), and FeNO (92.0 vs 28.5 ppb) were not statistically different between hyperresponsive and nomoresponsive subjects at baseline. Subjects with airway hyperresponsiveness (AHR) showed significant increases in lung clearance index (LCI, P = 0.011) and Scond (P = 0.008) after CACh, and significant decreases after salbutamol (LCI: P = 0.005; Scond: P = 0.005). In contrast, normoresponsive subjects showed no relevant changes after CACh, and only a decrease of Scond after salbutamol (P = 0.007). There were significant correlations between the CACh induced changes in FEV1 and changes in LCI (r = -0.45, P = 0.003), Scond (r = -0.30, P = 0.047), and Sacin (r = -0.47, P = 0.008), respectively. CONCLUSION: Our study provides evidence of small airway involvement in children and adolescents with inactive asthma and airway hyperresponsiveness.
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Asma/fisiopatologia , Temperatura Baixa/efeitos adversos , Adolescente , Ar , Albuterol/uso terapêutico , Asma/tratamento farmacológico , Asma/metabolismo , Testes Respiratórios , Broncodilatadores/uso terapêutico , Criança , Expiração , Feminino , Humanos , Masculino , Óxido Nítrico/metabolismo , EspirometriaRESUMO
The current consensus report was compiled under the patronage of the Austrian Society of Pneumology (Österreichischen Gesellschaft für Pneumologie, ÖGP) with the intention of providing practical guidelines for out-of-hospital ventilation that are in accordance with specific Austrian framework parameters and legal foundations. The guidelines are oriented toward a 2004 consensus ÖGP recommendation concerning the setup of long-term ventilated patients and the 2010 German Respiratory Society S2 guidelines on noninvasive and invasive ventilation of chronic respiratory insufficiency, adapted to national experiences and updated according to recent literature. In 11 chapters, the initiation, adjustment, and monitoring of out-of-hospital ventilation is described, as is the technical equipment and airway access. Additionally, the different indications-such as chronic obstructive pulmonary diseases, thoracic restrictive and neuromuscular diseases, obesity hypoventilation syndrome, and pediatric diseases-are discussed. Furthermore, the respiratory physiotherapy of adults and children on invasive and noninvasive long-term ventilation is addressed in detail.
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Assistência Ambulatorial/normas , Guias de Prática Clínica como Assunto , Pneumologia/normas , Respiração Artificial/métodos , Respiração Artificial/normas , Insuficiência Respiratória/terapia , Áustria , Doença Crônica , Cuidados Críticos/normas , Medicina Baseada em EvidênciasRESUMO
With intensified antibiotic therapy and longer survival, patients with cystic fibrosis (CF) are colonized with a more complex pattern of bacteria and fungi. However, the clinical relevance of these emerging pathogens for lung function remains poorly defined. The aim of this study was to assess the association of bacterial and fungal colonization patterns with lung function in adolescent patients with CF. Microbial colonization patterns and lung function parameters were assessed in 770 adolescent European (German/Austrian) CF patients in a retrospective study (median follow-up time: 10years). Colonization with Pseudomonas aeruginosa and MRSA were most strongly associated with loss of lung function, while mainly colonization with Haemophilus influenzae was associated with preserved lung function. Aspergillus fumigatus was the only species that was associated with an increased risk for infection with P. aeruginosa. Microbial interaction analysis revealed three distinct microbial clusters within the longitudinal course of CF lung disease. Collectively, this study identified potentially protective and harmful microbial colonization patterns in adolescent CF patients. Further studies in different patient cohorts are required to evaluate these microbial patterns and to assess their clinical relevance.
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Aspergillus fumigatus/isolamento & purificação , Fibrose Cística , Pulmão , Staphylococcus aureus Resistente à Meticilina/isolamento & purificação , Infecções por Pseudomonas , Pseudomonas aeruginosa/isolamento & purificação , Aspergilose Pulmonar , Infecções Estafilocócicas , Adolescente , Áustria/epidemiologia , Fibrose Cística/epidemiologia , Fibrose Cística/microbiologia , Fibrose Cística/fisiopatologia , Feminino , Alemanha/epidemiologia , Humanos , Pulmão/microbiologia , Pulmão/fisiopatologia , Masculino , Interações Microbianas , Infecções por Pseudomonas/diagnóstico , Infecções por Pseudomonas/epidemiologia , Infecções por Pseudomonas/fisiopatologia , Aspergilose Pulmonar/diagnóstico , Aspergilose Pulmonar/epidemiologia , Aspergilose Pulmonar/fisiopatologia , Testes de Função Respiratória/métodos , Infecções Estafilocócicas/diagnóstico , Infecções Estafilocócicas/epidemiologia , Infecções Estafilocócicas/fisiopatologia , Estatística como AssuntoRESUMO
Stridor is a variably pitched respiratory sound, caused by abnormal air passage during breathing and often is the most prominent sign of upper airway obstruction. It is usually heard on inspiration (typically resulting from supraglottic or glottic obstruction) but also can occur on expiration (originating from obstruction at or below glottic level and/or severe upper airway obstruction). Stridor due to congenital anomalies may exist from birth or may develop within days, weeks or months. Various congenital and acquired disorders prevail in neonates, infants, children, and adolescents, and have to be distinguished. History, age of the child and physical examination together often allow a presumptive diagnosis. Further investigations may be necessary to establish a definite diagnosis, and flexible airway endoscopy is the diagnostic procedure of choice in most circumstances ("stridor is visible").
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Obstrução das Vias Respiratórias/diagnóstico , Broncoscopia/métodos , Sons Respiratórios/diagnóstico , Obstrução das Vias Respiratórias/complicações , Humanos , Sons Respiratórios/etiologiaRESUMO
Primary pulmonary lymphangiectasis (PPL) is a rare congenital developmental abnormality of the lung with a generally poor prognosis. Only a limited number of patients with neonatal-onset PPL have been reported to survive. We present the case of a male preterm infant (gestational age 34 weeks 6 days) with histologically confirmed PPL, complicated by hydrops fetalis, bilateral hydrothorax (treated in utero with pleuro-amniotic shunts), and immediate respiratory distress at birth. He survived after extensive neonatal intensive care therapy and was discharged home at the age of 7 months. At last follow up he was 3 years 7 months old, still requiring assisted ventilation via tracheostomy, having recurrent episodes of wheezing and had mild global developmental delay. This case demonstrates that survival beyond the neonatal period is possible even with severe PPL but long-term morbidity may be relevant, and multidisciplinary management and close follow up are essential.
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Gerenciamento Clínico , Doenças do Prematuro/diagnóstico , Recém-Nascido Prematuro , Pneumopatias/congênito , Linfangiectasia/congênito , Adulto , Biópsia , Feminino , Humanos , Recém-Nascido , Doenças do Prematuro/terapia , Pneumopatias/diagnóstico , Pneumopatias/terapia , Linfangiectasia/diagnóstico , Linfangiectasia/terapia , Masculino , Gravidez , Tomografia Computadorizada por Raios XRESUMO
There are many causes of acute severe upper airway obstruction (UAO) in children. The timing of symptom onset and the presence of fever will help to distinguish infectious from non-infectious conditions. Signs and symptoms from congenital malformations often present at birth but may also develop over time. The most common cause of UAO in children is croup. Choking on a foreign body also occurs relatively frequently. Evaluation of the child with UAO starts with a detailed history followed by a thorough physical examination, including an assessment of severity. Severe airway obstruction will result in respiratory failure. This situation requires an immediate response. A child with partial airway obstruction may initially have an adequate airway. However, this situation can deteriorate rapidly. Therefore, providing supportive care and mobilizing resources for definitive airway management may be the most appropriate interventions.
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Obstrução das Vias Respiratórias/terapia , Gerenciamento Clínico , Unidades de Terapia Intensiva Pediátrica , Doença Aguda , Obstrução das Vias Respiratórias/diagnóstico , Criança , Humanos , Índice de Gravidade de DoençaRESUMO
UNLABELLED: This case report describes a 13-year-old boy with diffuse microvascular pulmonary arteriovenous malformations, in whom total anomalous pulmonary venous drainage had been corrected surgically in the newborn period. Contrast transesophageal echocardiography, cardiac catheterization and a lung perfusion scan suggested, and lung biopsy confirmed the diagnosis in our patient. Treatment with nifedipin was commenced. CONCLUSION: This case illustrates the diagnostic difficulties with this rare malformation.
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Malformações Arteriovenosas/diagnóstico , Artéria Pulmonar/anormalidades , Veias Pulmonares/anormalidades , Telangiectasia Hemorrágica Hereditária/complicações , Adolescente , Malformações Arteriovenosas/complicações , Malformações Arteriovenosas/cirurgia , Biópsia , Cateterismo Cardíaco , Diagnóstico Diferencial , Ecocardiografia Transesofagiana , Humanos , Masculino , Telangiectasia Hemorrágica Hereditária/diagnósticoRESUMO
Gorham-Stout syndrome is a rare disease characterized by vascular proliferation in the bones, effecting osteolysis. When it is complicated by chylothorax, the prognosis is poor. The present case illustrates successful management of chylothorax by a combination of surgery (thoracic duct ligation and excision of lymphangiomatous tissue combined with pleurodesis) and treatment with alpha-2b interferon. Treatment in 38 published cases is reviewed.