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1.
Ned Tijdschr Geneeskd ; 1672023 06 22.
Artigo em Holandês | MEDLINE | ID: mdl-37345626

RESUMO

BACKGROUND: Several hereditary disorders, with highly variable and sometimes difficult to recognize manifestations, can present with a spontaneous pneumothorax. Options to perform DNA-testing have changed rapidly, as a result of which physicians of diverse disciplines are coming into contact with hereditary disorders. CASE DESCRIPTION: Two patients with a history of multiple spontaneous pneumothoraxes were seen at the outpatient clinic of the department of Clinical Genetics. Based on family history and physical examination, a suspicion of an underlying hereditary disorder arose. Birt-Hogg-Dubé syndrome and vascular Ehlers-Danlos syndrome were diagnosed through DNA-testing. Based on this, additional screening advices were given and DNA-testing became possible in the family. CONCLUSION: A spontaneous pneumothorax may be a manifestation of an underlying hereditary disorder. With attention to clinical symptoms and family history, physicians can contribute to timely diagnosis. In many cases this results in significant health benefits for both the patient and affected family members, such as screening for kidney cancer in the case of Birt-Hogg-Dubé syndrome.


Assuntos
Síndrome de Birt-Hogg-Dubé , Neoplasias Renais , Pneumotórax , Humanos , Pneumotórax/etiologia , Pneumotórax/genética , Síndrome de Birt-Hogg-Dubé/complicações , Síndrome de Birt-Hogg-Dubé/diagnóstico , Síndrome de Birt-Hogg-Dubé/genética , Anamnese
3.
Respirology ; 27(7): 501-509, 2022 07.
Artigo em Inglês | MEDLINE | ID: mdl-35441433

RESUMO

BACKGROUND AND OBJECTIVE: To develop targeted and efficient follow-up programmes for patients hospitalized with coronavirus disease 2019 (COVID-19), structured and detailed insights in recovery trajectory are required. We aimed to gain detailed insights in long-term recovery after COVID-19 infection, using an online home monitoring programme including home spirometry. Moreover, we evaluated patient experiences with the home monitoring programme. METHODS: In this prospective multicentre study, we included adults hospitalized due to COVID-19 with radiological abnormalities. For 6 months after discharge, patients collected weekly home spirometry and pulse oximetry measurements, and reported visual analogue scales on cough, dyspnoea and fatigue. Patients completed the fatigue assessment scale (FAS), global rating of change (GRC), EuroQol-5D-5L (EQ-5D-5L) and online tool for the assessment of burden of COVID-19 (ABCoV tool). Mixed models were used to analyse the results. RESULTS: A total of 133 patients were included in this study (70.1% male, mean age 60 years [SD 10.54]). Patients had a mean baseline forced vital capacity of 3.25 L (95% CI: 2.99-3.44 L), which increased linearly in 6 months with 19.1% (Δ0.62 L, p < 0.005). Patients reported substantial fatigue with no improvement over time. Nevertheless, health status improved significantly. After 6 months, patients scored their general well-being almost similar as before COVID-19. Overall, patients considered home spirometry useful and not burdensome. CONCLUSION: Six months after hospital admission for COVID-19, patients' lung function and quality of life were still improving, although fatigue persisted. Home monitoring enables detailed follow-up for patients with COVID-19 at low burden for patients and for the healthcare system.


Assuntos
COVID-19 , Qualidade de Vida , Adulto , Fadiga/etiologia , Feminino , Humanos , Pulmão/diagnóstico por imagem , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos
4.
Eur Respir J ; 43(5): 1316-25, 2014 May.
Artigo em Inglês | MEDLINE | ID: mdl-24177003

RESUMO

Respiratory influences are major confounders when evaluating central haemodynamics during exercise. We studied four different methods to assess mean pulmonary artery pressure (mPAP) and pulmonary capillary wedge pressure (PCWP) in cases of respiratory swings. Central haemodynamics were measured simultaneously with oesophageal pressure during exercise in 30 chronic obstructive pulmonary disease (COPD) patients. mPAP and PCWP were assessed at the end of expiration, averaged over the respiratory cycle and corrected for the right atrial pressure (RAP) waveform estimated intrathoracic pressure, and compared with the transmural pressures. Bland-Altman analyses showed the best agreement of mPAP averaged over the respiratory cycle (bias (limits of agreement) 2.5 (-6.0-11.8) mmHg) and when corrected with the nadir of RAP (-3.6 (-11.2-3.9) mmHg). Measuring mPAP at the end of expiration (10.3 (0.5-20.3) mmHg) and mPAP corrected for the RAP swing (-9.3 (-19.8-2.1) mmHg) resulted in lower levels of agreement. The respiratory swings in mPAP and PCWP were similar (r(2)=0.82, slope ± se 0.95 ± 0.1). Central haemodynamics measured at the end of expiration leads to an overestimation of intravascular pressures in exercising COPD patients. Good measurement can be acquired even when oesopghageal pressure is omitted, by averaging pressures over the respiratory cycle or using the RAP waveform to correct for intrathoracic pressure. Assessment of the pulmonary gradient is unaffected by respiratory swings.


Assuntos
Exercício Físico , Doença Pulmonar Obstrutiva Crônica/fisiopatologia , Pressão Propulsora Pulmonar , Transtornos Respiratórios/complicações , Idoso , Feminino , Volume Expiratório Forçado , Hemodinâmica , Humanos , Hipertensão Pulmonar/fisiopatologia , Masculino , Pessoa de Meia-Idade , Consumo de Oxigênio , Pressão , Artéria Pulmonar/fisiopatologia , Doença Pulmonar Obstrutiva Crônica/diagnóstico , Reprodutibilidade dos Testes , Respiração , Transtornos Respiratórios/fisiopatologia , Fatores de Tempo
8.
Chest ; 142(5): 1166-1174, 2012 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-22556320

RESUMO

BACKGROUND: Pulmonary hypertension (PH) is a well-recognized complication of COPD. The impact of PH on exercise tolerance is largely unknown. We evaluated and compared the circulatory and ventilatory profiles during exercise in patients with COPD without PH, with moderate PH, and with severe PH. METHODS: Forty-seven patients, GOLD (Global Initiative for Chronic Obstructive Lung Disease)stages II to IV, underwent cardiopulmonary exercise testing and right-sided heart catheterization at rest and during exercise. Patients were divided into three groups based on mean pulmonary artery pressure (mPAP) at rest: no PH (mPAP, < 25 mm Hg), moderate PH (mPAP, 25-39 mm Hg),and severe PH (mPAP, ≥ 40 mm Hg). Mixed venous oxygen saturation (S VO 2 ) was used for evaluating the circulatory reserve. Pa CO 2 and the calculated breathing reserve were used for evaluation of the ventilatory reserve. RESULTS: Patients without PH (n = 24) had an end-exercise S VO 2 of 48%± 9%, an increasing Pa CO 2 with exercise, and a breathing reserve of 22% ± 20%. Patients with moderate PH (n = 14) had an exercise S VO 2 of 40% ± 8%, an increasing Pa CO 2 , and a breathing reserve of 26% ± 15%. Patients with severe PH (n =9) had a significantly lower end-exercise S VO 2 (30% ± 6%), a breathing reserve of 37% ± 11%, and an absence of Pa CO 2 accumulation. CONCLUSION: Patients with severe PH showed an exhausted circulatory reserve at the end of exercise.A profile of circulatory reserve in combination with ventilatory impairments was found inpatients with COPD and moderate or no PH. The results suggest that pulmonary vasodilation might only improve exercise tolerance in patients with COPD and severe PH.


Assuntos
Tolerância ao Exercício/fisiologia , Hipertensão Pulmonar/fisiopatologia , Doença Pulmonar Obstrutiva Crônica/fisiopatologia , Idoso , Análise de Variância , Teste de Esforço , Feminino , Hemodinâmica/fisiologia , Humanos , Masculino , Oxigênio/sangue , Testes de Função Respiratória , Índice de Gravidade de Doença , Estatísticas não Paramétricas
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