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1.
Pulm Med ; 2024: 3446536, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38650913

RESUMO

Background: The denomination of noncystic fibrosis bronchiectasis (NCFB) includes several causes, and differences may be expected between the patient subgroups regarding age, comorbidities, and clinical and functional evolution. This study sought to identify the main causes of NCFB in a cohort of stable adult patients and to investigate whether such conditions would be different in their clinical, functional, and quality of life aspects. Methods: Between 2017 and 2019, all active patients with NCFB were prospectively evaluated searching for clinical data, past medical history, dyspnea severity grading, quality of life data, microbiological profile, and lung function (spirometry and six-minute walk test). Results: There was a female predominance; mean age was 54.7 years. Causes were identified in 82% of the patients, the most frequent being postinfections (n = 39), ciliary dyskinesia (CD) (n = 32), and chronic obstructive pulmonary disease (COPD) (n = 29). COPD patients were older, more often smokers (or former smokers) and with more comorbidities; they also had worse lung function (spirometry and oxygenation) and showed worse performance in the six-minute walk test (6MWT) (walked distance and exercise-induced hypoxemia). Considering the degree of dyspnea, in the more symptomatic group, patients had higher scores in the three domains and total score in SGRQ, besides having more exacerbations and more patients in home oxygen therapy. Conclusions: Causes most identified were postinfections, CD, and COPD. Patients with COPD are older and have worse pulmonary function and more comorbidities. The most symptomatic patients are clinically and functionally more severe, besides having worse quality of life.


Assuntos
Bronquiectasia , Doença Pulmonar Obstrutiva Crônica , Qualidade de Vida , Teste de Caminhada , Humanos , Feminino , Bronquiectasia/fisiopatologia , Masculino , Pessoa de Meia-Idade , Idoso , Doença Pulmonar Obstrutiva Crônica/fisiopatologia , Doença Pulmonar Obstrutiva Crônica/complicações , Adulto , Dispneia/fisiopatologia , Transtornos da Motilidade Ciliar/fisiopatologia , Transtornos da Motilidade Ciliar/complicações , Estudos Prospectivos , Espirometria , Comorbidade
4.
Am J Cardiol ; 174: 61-67, 2022 07 01.
Artigo em Inglês | MEDLINE | ID: mdl-35473780

RESUMO

Interleukin-1 (IL-1) blockade is an anti-inflammatory treatment that may affect exercise capacity in heart failure (HF). We evaluated patient-reported perceptions of exertion and dyspnea at submaximal exercise during cardiopulmonary exercise testing (CPET) in a double-blind, placebo-controlled, randomized clinical trial of IL-1 blockade in patients with systolic HF (REDHART [Recently Decompensated Heart Failure Anakinra Response Trial]). Patients underwent maximal CPET at baseline, 2, 4, and 12 weeks and rated their perceived level of exertion (RPE, on a scale from 6 to 20) and dyspnea on exertion (DOE, on a scale from 0 to 10) every 3 minutes throughout exercise. Patients also answered 2 questionnaires to assess HF-related quality of life: the Duke Activity Status Index and the Minnesota Living with Heart Failure Questionnaire. From baseline to the 12-week follow-up, IL-1 blockade significantly reduced RPE and DOE at 3- and 6-minutes during CPET without changing values for heart rate, oxygen consumption, and cardiac workload at 3- and 6-minutes. Linear regression identified 6-minute RPE to be a strong independent predictor of both physical symptoms (Minnesota Living with Heart Failure Questionnaire; ß = 0.474, p = 0.002) and perceived exercise capacity (Duke Activity Status Index; ß = -0.443, p = 0.008). In conclusion, patient perceptions of exertion and dyspnea at submaximal exercise may be valuable surrogates for quality of life and markers of response to IL-1 blockade in patients with HF.


Assuntos
Dispneia , Insuficiência Cardíaca Sistólica , Interleucina-1 , Esforço Físico , Dispneia/diagnóstico , Dispneia/tratamento farmacológico , Dispneia/fisiopatologia , Teste de Esforço , Tolerância ao Exercício/fisiologia , Insuficiência Cardíaca Sistólica/diagnóstico , Insuficiência Cardíaca Sistólica/tratamento farmacológico , Insuficiência Cardíaca Sistólica/fisiopatologia , Humanos , Interleucina-1/antagonistas & inibidores , Consumo de Oxigênio/fisiologia , Esforço Físico/fisiologia , Qualidade de Vida
5.
J Electrocardiol ; 72: 44-48, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35306293

RESUMO

OBJECTIVE: The aim of this study is to examine the probability of de-novo fQRS in patients with mild COVID-19 disease, as an indicator of cardiac injury. METHODS: Data of 256 patients with normal admission electrocardiography and no comorbidities between 1.12.2020-31.12.2021, were examined retrospectively 6-month after mild COVID-19 disease. Patients were divided into two groups: fQRS+ group (n = 102) and non-fQRS group (n = 154). Relation between fQRS and other electrocardiography, echocardiographic and laboratory findings were investigated. RESULTS: No significant difference was found between the groups among age and gender. Troponin-I and creatine kinase myocardial band values (retrospectively 9.10 ± 1.76 vs 0.74 ± 1.43, 34.05 ± 82.20 vs. 14.68 ± 4.42), COVID-19 IgG levels (45.78 ± 14.82 vs. 36.49 ± 17.68), diastolic dysfunction (39.21% vs. 15.07%), EF value (58.02 ± 1.95 vs. 64.27 ± 3.07), dyspnea (41.17% vs. 6.84%), post-COVID-19 tachycardia syndrome (19.6% vs. 2.74) were more frequent in fQRS+ group compared to non-fQRS group. The EF value was lower in the presence of fQRS in the high lateral leads (57.12 ± 1.99, 58.47 ± 1.79, p:0.018). There was a positive correlation between IgG value and endsystolic diameter, septum thickness and left atrium diameter. In multivariate analysis de-novo fQRS, dyspnea, high troponin and IgG values, diastolic dysfunction, low EF value and left atrial diameter were determined as independent risk factors for post-COVID-19 tachycardia syndrome in follow-up. CONCLUSION: In COVID-19 disease de-novo fQRS, dyspnea, high IgG and troponin value, left atrial diameter, lower EF value, diastolic dysfunction were associated with post-COVID-19 tachycardia syndrome. The de-novo fQRS in SARS-COV-2 may be a predictor of future more important adverse cardiovascular outcomes and this should alert clinicians.


Assuntos
COVID-19 , Eletrocardiografia , Cardiopatias , COVID-19/complicações , COVID-19/fisiopatologia , Dispneia/fisiopatologia , Dispneia/virologia , Seguimentos , Cardiopatias/fisiopatologia , Cardiopatias/virologia , Humanos , Imunoglobulina G , Estudos Retrospectivos , SARS-CoV-2 , Troponina
6.
Physiol Rep ; 10(4): e15197, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-35179831

RESUMO

Reduced exercise capacity and several limiting symptoms during exercise have been reported following severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) infection. From clinical observations, we hypothesized that an abnormal breathing pattern (BrP) during exercise may be common in these patients and related to reduced exercise capacity. We aimed to (a) evaluate a method to classify the BrP as normal/abnormal or borderline in terms of inter-rater agreement; (b) determine the occurrence of an abnormal BrP in patients with post-COVID; and (c) compare characteristics of post-COVID patients with normal and abnormal BrP. In a retrospective, cross-sectional study of patients referred for CPET due to post-COVID April 2020-April 2021, we selected subjects without a history of intensive care and with available medical records. Three raters independently categorized patients' BrP as normal, abnormal, or borderline, using four traditional CPET plots (respiratory exchange ratio, tidal volume over ventilation, ventilatory equivalent for oxygen, and ventilation over time). Out of 20 patients (11 male), 10 were categorized as having a normal, 7 an abnormal, and three a borderline BrP. Inter-rater agreement was good (Fleiss' kappa: 0.66 [0.66-0.67]). Subjects with an abnormal BrP had lower peak ventilation, lower exercise capacity, similar ventilatory efficiency and a similar level of dyspnea at peak exercise, as did subjects with a normal BrP. Patients' BrP was possible to classify with good agreement between observers. A third of patients had an abnormal BrP, associated with lower exercise capacity, which could possibly explain exercise related symptoms in some patients with post-COVID syndrome.


Assuntos
COVID-19/complicações , Dispneia/etiologia , Tolerância ao Exercício/fisiologia , Respiração , Adulto , COVID-19/fisiopatologia , Estudos Transversais , Dispneia/fisiopatologia , Teste de Esforço , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Testes de Função Respiratória , Estudos Retrospectivos
8.
Respir Res ; 23(1): 9, 2022 Jan 12.
Artigo em Inglês | MEDLINE | ID: mdl-35022059

RESUMO

Unexplained exertional dyspnoea or fatigue can arise from a number of underlying disorders and shows only a weak correlation with resting functional or imaging tests. Noninvasive cardiopulmonary exercise testing (CPET) offers a unique, but still under-utilised and unrecognised, opportunity to study cardiopulmonary and metabolic changes simultaneously. CPET can distinguish between a normal and an abnormal exercise response and usually identifies which of multiple pathophysiological conditions alone or in combination is the leading cause of exercise intolerance. Therefore, it improves diagnostic accuracy and patient health care by directing more targeted diagnostics and facilitating treatment decisions. Consequently, CPET should be one of the early tests used to assess exercise intolerance. However, this test requires specific knowledge and there is still a major information gap for those physicians primarily interested in learning how to systematically analyse and interpret CPET findings. This article describes the underlying principles of exercise physiology and provides a practical guide to performing CPET and interpreting the results in adults.


Assuntos
Dispneia/reabilitação , Tolerância ao Exercício/fisiologia , Guias de Prática Clínica como Assunto , Testes de Função Respiratória/normas , Adulto , Dispneia/fisiopatologia , Humanos
9.
PLoS One ; 17(1): e0262238, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-34995334

RESUMO

BACKGROUND: A 30-m walkway length for the 6-minute walk test (6MWT) is the standard recommendation established by the American Thoracic Society to assess patients with chronic obstructive pulmonary disease (COPD). This study aimed to compare between the distances of 20 and 30 m long corridor affecting 6MWT in COPD patients. METHODS: A randomized crossover study was conducted with patients. COPD patients were randomized 1:1 to either a 20-m or a 30-m walkway in the first test, then switched to the other in the second test. Physiologic parameters and 6-minute walking distance (6MWD) were recorded. RESULTS: Fifty subjects (92% men) were included: age 69.1±7.4 years, body mass index 22.9±5.5 kg/m2, FEV1 63.0±21.3%, and 50% having cardiovascular disease. The 6MWD in a 20-m and a 30-m walkway were 337.82±71.80 m and 359.85±77.25 m, respectively (P<0.001). Mean distance difference was 22.03 m (95% CI -28.29 to -15.76, P<0.001). Patients with a 20-m walkway had more turns than those with a 30-m walkway (mean difference of 4.88 turns, 95% CI 4.48 to 5.28, P<0.001). Also, higher systolic blood pressure was found in patients with a 20-m walkway after 6MWT (4.62 mmHg, P = 0.019). Other parameters and Borg dyspnea scale did not differ. CONCLUSIONS: The walkway length had significant effect on walking distance in COPD patients. A 30-m walkway length should still be recommended in 6MWT for COPD assessment. CLINICAL TRIAL REGISTRATION: Clinicaltrials.in.th number: TCTR20200206003.


Assuntos
Dispneia/fisiopatologia , Tolerância ao Exercício , Doença Pulmonar Obstrutiva Crônica/fisiopatologia , Teste de Caminhada/métodos , Caminhada , Idoso , Estudos Cross-Over , Feminino , Frequência Cardíaca , Humanos , Masculino
10.
Chest ; 161(1): e13-e17, 2022 01.
Artigo em Inglês | MEDLINE | ID: mdl-35000711

RESUMO

CASE PRESENTATION: A 21-year-old male college student presented for a second opinion with low alpha-1 antitrypsin (AAT) levels and complaints of episodic dyspnea with wheezing and cough. He was a never smoker with a medical history of frequent respiratory tract infections in early childhood and allergy to dander, dust mites, peanuts, and eggs. There was no travel history outside of the continental United States. His mother had asthma. His symptoms were not controlled on inhaled corticosteroids and bronchodilators. His AAT genotype was found to be PI∗SZ, and augmentation therapy (with pooled human-plasma derived AAT) was recommended locally.


Assuntos
Asma/diagnóstico , Deficiência de alfa 1-Antitripsina/diagnóstico , Antiasmáticos/uso terapêutico , Anticorpos Monoclonais Humanizados/uso terapêutico , Asma/tratamento farmacológico , Asma/fisiopatologia , Tosse/fisiopatologia , Diagnóstico Diferencial , Dispneia/fisiopatologia , Volume Expiratório Forçado , Humanos , Masculino , Capacidade de Difusão Pulmonar , Volume Residual , Testes de Função Respiratória , Sons Respiratórios/fisiopatologia , Tomografia Computadorizada por Raios X , Capacidade Pulmonar Total , Capacidade Vital , Adulto Jovem , alfa 1-Antitripsina/genética , alfa 1-Antitripsina/metabolismo , alfa 1-Antitripsina/uso terapêutico , Deficiência de alfa 1-Antitripsina/tratamento farmacológico
11.
Sci Rep ; 12(1): 13, 2022 01 07.
Artigo em Inglês | MEDLINE | ID: mdl-34996984

RESUMO

Exercise intolerance is a primary manifestation in patients with heart failure with preserved ejection fraction (HFpEF) and is associated with abnormal hemodynamics and a poor quality of life. Two multiparametric scoring systems have been proposed to diagnose HFpEF. This study sought to determine the performance of the H2FPEF and HFA-PEFF scores for predicting exercise capacity and echocardiographic findings of intracardiac pressures during exercise in subjects with dyspnea on exertion referred for bicycle stress echocardiography. In a subset, simultaneous expired gas analysis was performed to measure the peak oxygen consumption (VO2). Patients with HFpEF (n = 83) and controls without HF (n = 104) were enrolled. The H2FPEF score was obtainable for all patients while the HFA-PEFF score could not be calculated for 23 patients (feasibility 88%). Both H2FPEF and HFA-PEFF scores correlated with a higher E/e' ratio (r = 0.49 and r = 0.46), lower systolic tricuspid annular velocity (r = - 0.44 and = - 0.24), and lower cardiac output (r = - 0.28 and r = - 0.24) during peak exercise. Peak VO2 and exercise duration decreased with an increase in H2FPEF scores (r = - 0.40 and r = - 0.32). The H2FPEF score predicted a reduced aerobic capacity (AUC 0.71, p = 0.0005), but the HFA-PEFF score did not (p = 0.07). These data provide insights into the role of the H2FPEF and HFA-PEFF scores for predicting exercise intolerance and abnormal hemodynamics in patients presenting with exertional dyspnea.


Assuntos
Dispneia/fisiopatologia , Insuficiência Cardíaca/fisiopatologia , Idoso , Idoso de 80 Anos ou mais , Algoritmos , Dispneia/diagnóstico , Dispneia/diagnóstico por imagem , Ecocardiografia sob Estresse , Tolerância ao Exercício , Feminino , Insuficiência Cardíaca/diagnóstico , Insuficiência Cardíaca/diagnóstico por imagem , Hemodinâmica , Humanos , Masculino , Pessoa de Meia-Idade , Qualidade de Vida , Volume Sistólico
13.
Respir Physiol Neurobiol ; 296: 103812, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-34741844

RESUMO

We hypothesized that the trained distance runners, who have a relatively high respiratory muscle endurance, but not high respiratory muscle strength, have lower dyspneic sensations during submaximal running. Twenty-one male collegiate distance runners participated. Incremental respiratory endurance tests (IRET) and maximal inspiratory mouth pressure (PImax) measurements were performed under resting conditions. A submaximal exercise test was also performed on a treadmill at two different speeds (16 and 18 km/h) for 4 min each, and the subjects reported the rate of dyspnea (range: 0-10). The time to endpoint during the IRET, an index of respiratory muscle endurance, ranged from 9.4 to 18.8 min, and PImax, as an index of inspiratory muscle strength, ranged from 74.1 to 137.0 cmH2O. The dyspnea rating during running at 16 and 18 km/h ranged from 1 to 6 and from 4 to 8, respectively. The relative exercise intensity was approximately 80 % of peak oxygen uptake (VO2peak) at 16 km/h and 90 %VO2peak at 18 km/h. The time to endpoint during the IRET was significantly negatively correlated with dyspnea during running at 18 km/h (r = -0.459, P = 0.040), but not at 16 km/h (r = -0.161, P = 0.470). There was no significant correlation between PImax and dyspnea during running at 16 km/h (r = -0.003, P = 0.989) or 18 km/h (r = 0.070, P = 0.755). These results suggest that dyspneic sensations during high-intensity running are related to respiratory muscle endurance, but not inspiratory muscle strength, in trained distance runners.


Assuntos
Dispneia/fisiopatologia , Força Muscular/fisiologia , Resistência Física/fisiologia , Músculos Respiratórios/fisiologia , Corrida/fisiologia , Adulto , Humanos , Masculino , Condicionamento Físico Humano , Adulto Jovem
14.
Respir Physiol Neurobiol ; 296: 103826, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-34864520

RESUMO

BACKGROUND: Exertional dyspnoea(ED) is a hallmark of chronic obstructive pulmonary disease(COPD). We examined the repeatability and face validity of the end-exercise ED(EDend) response during the Dyspnoea Challenge and compared those to the six-minute walk test (6MWT) in COPD. METHODS: Twenty-six individuals with COPD(13 Females, age:69 ± 5.5yrs, FEV1:63.4 ± 11.9 %) completed 2 × 6MWTs and 4 x Dyspnoea Challenges on three occasions. The challenge consisted of a two-minute treadmill walk at 80 % of 6MWT speed(3.9 ± 0.5 km·hr-1) at either a low(LIDC:5.3 ± 2%) or high angle of incline(HIDC:9.5 ± 3%). Dyspnoea(0-10 scale), heart rate(HR) and oxygen saturation(SpO2) were monitored continuously. RESULTS: Mean 6MWT distance was 488 ± 58 m. End-exercise ED and HR were higher in the HIDC(EDend 6.2 ± 2.0; HR: 123 ± 17beats·min-1) compared to the LIDC(EDend 4.2 ± 2.0; HR: 119 ± 15beats·min-1) and the 6MWT(EDend 4.3 ± 2.0; HR: 115 ± 16beats·min-1)(P < 0.01). SpO2 was not different between 6MWT, LIDC or HIDC(P = 0.34). The intraclass correlation coefficient(ICC) for each intensity was excellent (HIDC, ICC = 0.88, LIDC, ICC = 0.93, P < 0.001) with neither reporting bias(HIDC, P = 0.63; LIDC, P = 0.94). CONCLUSIONS: The Dyspnoea Challenge is a simple measure of ED that appears to have both repeatability and face validity. With further optimisation, this test may enhance the field-based clinical assessment of ED.


Assuntos
Dispneia/diagnóstico , Teste de Esforço/normas , Esforço Físico , Doença Pulmonar Obstrutiva Crônica/diagnóstico , Idoso , Dispneia/etiologia , Dispneia/fisiopatologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Esforço Físico/fisiologia , Doença Pulmonar Obstrutiva Crônica/fisiopatologia , Reprodutibilidade dos Testes
15.
Respir Physiol Neurobiol ; 297: 103831, 2022 03.
Artigo em Inglês | MEDLINE | ID: mdl-34922000

RESUMO

While the 0-10 Borg scale to rate perceived breathlessness (RPB) is widely used to assess dyspnea on exertion, the repeatability of RPB in women with obesity is unknown. We examined the repeatability of RPB in women with obesity during submaximal constant-load cycling following at least 10 weeks of normal daily life. Seventeen women (37 ± 7 yr; 34.6 ± 4.5 kg/m2) who rated their breathlessness as 3 on the Borg scale (i.e., "moderate") during 60 W submaximal cycling repeated the same test following 19 ± 9 weeks of normal living. Mean body weight (93.8 ± 16.1 vs. 93.6 ± 116.8 kg, p = 0.94) and RPB (3.0 ± 0.0 vs. 3.1 ± 1.4, p = 0.80) did not differ between pre- and post-normal living periods. We demonstrate that subjective ratings of breathlessness are repeatable for the majority of subjects and can be used to accurately assess DOE during submaximal constant-load cycling in women with obesity.


Assuntos
Dispneia/diagnóstico , Dispneia/fisiopatologia , Exercício Físico/fisiologia , Obesidade/fisiopatologia , Autorrelato/normas , Adulto , Ciclismo/fisiologia , Feminino , Humanos , Pessoa de Meia-Idade , Reprodutibilidade dos Testes
17.
Arch Iran Med ; 24(10): 733-740, 2021 10 01.
Artigo em Inglês | MEDLINE | ID: mdl-34816694

RESUMO

BACKGROUND: Clinical manifestations of COVID-19 are different. There are some risk factors for COVID-19. This study aimed to describe the epidemiological features, symptoms and mortality of the patients with COVID-19 in Iran. METHODS: This were a cohort study performed on 103,179 patients with COVID-19. The demographic and clinical data were collected in selected provinces. The required data of all patients was extracted from the COVID registry system and analyzed using STATA version 14 and Excel 2016. RESULTS: The mean age was 52.40 years for men and 52.41 years for women. About 55.2% of the study population were male and 44.8% were female. Totally, 60.9% (5085) of deaths happened in men and 39.1% (3263) in women. The mean time from onset of symptoms to hospitalization in men and women were 3.47 and 3.48 days, respectively. The mean time from onset of symptoms to isolation was 2.81 days in men and was 2.87 days in women, from onset of symptoms to death was 9.29 and 9.54 days, respectively, from onset of symptoms to discharge was 7.47 and 7.39 days, and from hospitalization to death was 6.76 and 7.05 days. Cough and shortness of breath were the most common symptoms in the patients. CONCLUSION: According to the results, the overall mortality rate was higher in men than women. Women with cardiovascular disease and diabetes were more likely to die. The mean time from onset of symptoms to hospitalization, isolation, and discharge was similar in men and women.


Assuntos
COVID-19/epidemiologia , Tosse/fisiopatologia , Dispneia/fisiopatologia , Hospitalização/estatística & dados numéricos , Adolescente , Adulto , Distribuição por Idade , Idoso , Idoso de 80 Anos ou mais , COVID-19/mortalidade , COVID-19/fisiopatologia , Doenças Cardiovasculares/epidemiologia , Criança , Pré-Escolar , Comorbidade , Diabetes Mellitus/epidemiologia , Feminino , Humanos , Irã (Geográfico)/epidemiologia , Tempo de Internação , Masculino , Pessoa de Meia-Idade , Sistema de Registros , SARS-CoV-2 , Fatores Sexuais , Fatores de Tempo , Adulto Jovem
18.
Chest ; 160(4): e333-e337, 2021 10.
Artigo em Inglês | MEDLINE | ID: mdl-34625179

RESUMO

Excessive dynamic airway collapse (EDAC) contributes to breathlessness and reduced quality of life in individuals with emphysema. We tested a novel, portable, oral positive expiratory pressure (o-PEP) device in a patient with emphysema and EDAC. MRI revealed expiratory tracheal narrowing to 80 mm2 that increased to 170 mm2 with the o-PEP device. After 2-weeks use of the o-PEP device for 33% to 66% of activities, breathlessness, quality of life, and exertional dyspnea improved compared with minimal clinically important differences (MCID): University of California-San Diego Shortness of Breath questionnaire score declined 69 to 42 (MCID, ≥5), St. George's Respiratory Questionnaire score decreased 71 to 27 (MCID, ≥4), and before and after the 6-minute walk test Borg score difference improved from Δ3 to Δ2 (MCID, ≥1). During the 6-minute walk test on room air without the use of the o-PEP device, oxyhemoglobin saturation declined 91% to 83%; whereas, with the o-PEP device, the nadir was 90%. Use of the o-PEP device reduced expiratory central airway collapse and improved dyspnea, quality of life, and exertional desaturation in a patient with EDAC and emphysema.


Assuntos
Bronquiectasia/reabilitação , Dispneia/reabilitação , Equipamentos e Provisões , Doenças por Armazenamento dos Lisossomos/reabilitação , Pressão , Enfisema Pulmonar/reabilitação , Mecânica Respiratória , Adulto , Bronquiectasia/fisiopatologia , Broncoscopia , Pressão Positiva Contínua nas Vias Aéreas , Dispneia/fisiopatologia , Desenho de Equipamento , Feminino , Humanos , Doenças por Armazenamento dos Lisossomos/fisiopatologia , Imageamento por Ressonância Magnética , Oximetria , Oxiemoglobinas , Impressão Tridimensional , Enfisema Pulmonar/fisiopatologia , Qualidade de Vida , Traqueia/fisiopatologia , Teste de Caminhada
19.
Chest ; 160(4): e343-e346, 2021 10.
Artigo em Inglês | MEDLINE | ID: mdl-34625181

RESUMO

CASE PRESENTATION: A 30-year-old woman was referred with increasing shortness of breath and cough in the setting of GATA2 deficiency. She initially presented 9 years previously with recurrent episodes of pneumonia and sinusitis. Genetic testing revealed a heterozygous GATA2 mutation (c.988C>T). She has since had multiple infections that have included necrotizing fasciitis of the right thumb, recurrent pilonidal infections (which required 23 procedures), esophageal candidiasis, and human papillomavirus-positive high-grade squamous intraepithelial lesion of the cervix. Serial bone marrow biopsy specimens showed persistent hypocellularity (20% to 60%) with intermittent erythroid atypia and variable detection of trisomy 8, which were concerning for evolving myelodysplastic syndrome. One year before the current admission, she was diagnosed with disseminated Mycobacterium avium complex and was treated with rifabutin, ethambutol, and azithromycin. She was taking voriconazole, acyclovir, and trimethoprim-sulfamethoxazole prophylaxis.


Assuntos
Tosse/fisiopatologia , Dispneia/fisiopatologia , Deficiência de GATA2/fisiopatologia , Proteinose Alveolar Pulmonar/diagnóstico , Adulto , Biópsia , Lavagem Broncoalveolar , Feminino , Deficiência de GATA2/complicações , Deficiência de GATA2/terapia , Transplante de Células-Tronco Hematopoéticas , Humanos , Síndromes de Imunodeficiência/fisiopatologia , Pulmão/patologia , Proteinose Alveolar Pulmonar/etiologia , Proteinose Alveolar Pulmonar/patologia , Proteinose Alveolar Pulmonar/fisiopatologia , Toracoscopia , Tomografia Computadorizada por Raios X
20.
Chest ; 160(4): e357-e363, 2021 10.
Artigo em Inglês | MEDLINE | ID: mdl-34625184
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