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A 7-Year-Old Boy With a Giant Mobile Mass in the Right Ventricle 一名7岁男孩右心室有巨大活动肿块
Pub Date : 2023-09-01 DOI: 10.1016/j.chpulm.2023.100011
Xiao Li MD , Yu Tang MD , Chaohui Chen MD , Penggao Wang MD , Yuelin Shen MD, PhD

Case Presentation

A 7-year-old male patient sought treatment with a 7-day history of high-grade fever, nonproductive cough, and fatigue. He did not report any chest pain or hemoptysis. His perinatal history, growth, and development were unremarkable. Family history showed hereditary thromboembolism. His sister had sought treatment with similar symptoms 1 week previously. Upper airway samples taken for SARS-CoV-2 showed negative results. The patient received azithromycin for community-acquired pneumonia. He was transferred to our hospital because of persistent fever and worsening lobar pneumonia on chest radiograph.

病例介绍一名7岁男性患者有7天的高热、非生产性咳嗽和疲劳病史,寻求治疗。他没有任何胸痛或咳血的报告。他的围产期病史、生长发育情况并不显著。家族史显示遗传性血栓栓塞。他的姐姐一周前曾因类似症状寻求治疗。针对严重急性呼吸系统综合征冠状病毒2型采集的上呼吸道样本显示阴性结果。患者接受阿奇霉素治疗社区获得性肺炎。他因持续发热和胸部X线片显示的大叶性肺炎恶化而被转移到我们医院。
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引用次数: 0
Long-term Survival and Quality of Life 长期生存与生活质量
Pub Date : 2023-09-01 DOI: 10.1016/j.chpulm.2023.100008
Kelly M. Chin MD, MSCS , William R. Auger MD , Raymond L. Benza MD , Richard N. Channick MD , R. Duane Davis MD , C. Greg Elliott MD , Feng He MS , Sonia Jain PhD , Michael M. Madani MD , Vallerie V. McLaughlin MD , Sudarshan Rajagopal MD, PhD , Josanna Rodriguez-Lopez MD , Victor F. Tapson MD , Kim M. Kerr MD, FCCP , Andrea LaCroix PhD

Background

Chronic thromboembolic pulmonary hypertension (CTEPH) causes significant morbidity and mortality, but long-term outcomes from contemporary multicenter studies are lacking.

Research Question

How are survival and health-related quality of life characterized in patients with CTEPH who are classified as inoperable, who are operable but have not undergone surgery, and who have undergone pulmonary thromboendarterectomy surgery?

Study Design and Methods

Patients with CTEPH recruited from 30 US sites from 2015 through 2018 completed the 36-item Short Form Health Survey (SF-36) and emPHasis-10 survey at baseline and 6-month intervals. Mixed model repeated measures analysis was used to compare between-group differences in score up to 2 years vs baseline. Multivariable Cox proportional hazards models were used to analyze survival by CTEPH group.

Results

Seven hundred fifty patients with a median age of 59 years were enrolled; 566 patients, 88 patients, and 96 patients were in the operated, operable but no surgery, and inoperable groups, respectively. Survival at 1, 2, and 3 years was 93%, 91%, and 87%, respectively. Patients in the inoperable and the operable but no surgery groups showed higher mortality rates relative to the operated group (hazard ratios, 2.10 [95% CI, 1.17-3.77] and 2.19 [95% CI, 1.20-3.99], respectively). The EmPHasis-10 and both SF-36 component scores improved during follow-up, with larger increases for the operated group (P < .05, unadjusted and adjusted vs inoperable and operable but no surgery groups at all time points up to 2 years for the SF-36 physical component score and EmPHasis-10 and at some time points for the SF-36 mental component score).

Interpretation

Better survival and quality-of-life outcomes were observed in patients undergoing pulmonary thromboendarterectomy.

背景慢性血栓栓塞性肺动脉高压(CTEPH)会导致显著的发病率和死亡率,但缺乏当代多中心研究的长期结果。研究问题CTEPH患者被归类为不可手术患者、可手术但未接受手术患者和接受过肺血栓内膜切除术患者的生存率和健康相关生活质量如何?研究设计和方法2015年至2018年,从美国30个地点招募的CTEPH患者在基线和6个月间隔完成了36项简式健康调查(SF-36)和emPHasis-10调查。使用混合模型重复测量分析来比较2年内各组得分与基线的差异。采用多变量Cox比例危险模型分析CTEPH组的生存率。结果750名患者入选,中位年龄59岁;566名患者、88名患者和96名患者分别属于手术组、可手术但无手术组和不可手术组。1年、2年和3年的生存率分别为93%、91%和87%。与手术组相比,不可手术组和可手术但无手术组的患者死亡率更高(危险比分别为2.10[95%CI,1.17-3.77]和2.19[95%CI,1.20-3.99])。EmPHasis-10和两种SF-36成分评分在随访期间均有改善,手术组的增加幅度更大(在SF-36身体成分评分和EmPHasis-10长达2年的所有时间点上,未调整和调整的组与不可手术和可手术但无手术的组相比,在某些时间点上与SF-36精神成分评分相比,P<0.05)血栓内膜切除术。
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引用次数: 0
Outcomes Associated With Catheter-Directed Therapies in Chronic Thromboembolic Pulmonary Hypertension 导管导向治疗慢性血栓栓塞性肺动脉高压的疗效
Pub Date : 2023-09-01 DOI: 10.1016/j.chpulm.2023.100009
Jenny Z. Yang MD , Nick H. Kim MD , Seth Kligerman MD , Timothy M. Fernandes MD, MPH , Demosthenes G. Papamatheakis MD , David S. Poch MD , Mona Alotaibi MD , Victor G. Pretorius MD , Michael M. Madani MD , Kim M. Kerr MD

Background

Catheter-directed therapies (CDTs) for acute pulmonary embolism (PE) are becoming increasingly popular. Although potentially beneficial in acute PE, CDT is ineffective for chronic thromboembolic disease. Herein we present our experience of patients with subsequently confirmed chronic thromboembolic pulmonary hypertension (CTEPH) or pulmonary artery sarcoma who initially received CDT before referral for surgical intervention.

Research Question

How often is CDT being used in patients with CTEPH or pulmonary artery tumor, and what are the associated outcomes?

Study Design and Methods

Retrospective review of all pulmonary thromboendarterectomy surgeries performed at the University of California, San Diego, from January 1, 2020, through December 31, 2021.

Results

Three hundred fifty-four pulmonary thromboendarterectomy surgeries were performed during the study period. Fifty-two patients received CDT before referral (15%). Before CDT attempt, duration of dyspnea ranged from 3 days to 10 years and mean right ventricular systolic pressure measured by echocardiography was 75 ± 23 mm Hg. After CDT, mean right ventricular systolic pressure was 77 ± 23 mm Hg. Three patients reported full recovery of symptoms, 23 patients reported some improvement, and 26 patients reported no change in symptoms. Imaging at time of CDT was available for review for 32 patients; 23 patients showed radiologic evidence of CTEPH and three patients showed evidence suspicious of sarcoma. Complications associated with CDT occurred in seven patients (13%) and included one death.

Interpretation

Radiologic signs of CTEPH frequently were overlooked at the time of CDT. Most patients (94%) achieved minimal or no improvement in symptoms after CDT, and 13% experienced complications. It is important to assess for clinical and radiologic signs of CTEPH when considering CDT in presumed acute PE to minimize unnecessary risk and instead refer patients for CTEPH evaluation.

背景导管导向治疗急性肺栓塞(PE)越来越受欢迎。尽管CDT对急性PE有潜在的益处,但对慢性血栓栓塞性疾病无效。在此,我们介绍了随后确诊为慢性血栓栓塞性肺动脉高压(CTEPH)或肺动脉肉瘤的患者的经验,这些患者在转诊进行手术干预之前最初接受了CDT。研究问题CDT在CTEPH或肺动脉肿瘤患者中的使用频率如何,相关结果如何?研究设计和方法对2020年1月1日至2021年12月31日在加州大学圣地亚哥分校进行的所有肺血栓内膜切除术进行回顾性审查。52名患者在转诊前接受CDT治疗(15%)。在尝试CDT之前,呼吸困难的持续时间为3天至10年,超声心动图测量的平均右心室收缩压为75±23毫米汞柱。CDT后,平均右心室收缩压为77±23毫米汞柱。3名患者报告症状完全恢复,23名患者报告有所改善,26名患者报告没有症状变化。CDT时的影像学检查可用于32名患者的检查;23名患者显示CTEPH的放射学证据,3名患者显示可疑肉瘤的证据。与CDT相关的并发症发生在7名患者(13%)中,其中1人死亡。解释CTEPH的放射学体征在CDT时经常被忽视。大多数患者(94%)在CDT后症状几乎没有改善,13%出现并发症。在假定的急性PE中考虑CDT时,评估CTEPH的临床和放射学体征是很重要的,以最大限度地减少不必要的风险,并转诊患者进行CTEPH评估。
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引用次数: 0
Community-Acquired Pneumonia Incidence in Adults Aged 18 Years and Older in Goto City, Japan 日本后藤市18岁及以上成人社区获得性肺炎发病率
Pub Date : 2023-09-01 DOI: 10.1016/j.chpulm.2023.100007
Taiga Miyazaki MD, PhD , Katsuji Hirano MD , Kiyoshi Ichihara MD, PhD , Elisa Gonzalez MS , Bradford D. Gessner MD , Raul E. Isturiz MD , Pingping Zhang MS , Sharon Gray MS , Michael Pride PhD , Mark van der Linden PhD , Luis Jodar PhD , Takahiro Maeda MD, PhD , Shigeru Kohno MD, PhD , Adriano Arguedas MD , Goto City Pneumococcal Pneumonia Incidence Study Group

Background

Few studies have measured the burden of community-acquired pneumonia (CAP) and pneumococcal vaccine-type CAP in Japan after the introduction of the 23-valent pneumococcal polysaccharide vaccine into the adult national immunization program for individuals aged ≥ 65 years in 2014. In this study, we estimated the incidences of CAP and Streptococcus pneumoniae CAP among Japanese adults between 2015 and 2020.

Research Question

What are the incidences of CAP and S pneumoniae CAP among Japanese adults? What are the common pneumococcal serotypes detected in patients with S pneumoniae CAP?

Study Design and Methods

This prospective population-based multicenter active surveillance study enrolled adults ≥ 18 years of age with clinically and radiologically confirmed CAP in Goto City, Japan. S pneumoniae was detected using standard-of-care blood and sputum cultures, BinaxNOW (Abbott), and serotype-specific urinary antigen detection assays.

Results

A total of 2,103 patients with CAP were enrolled; 84% were aged ≥ 65 years and 6.7% died during the study. The annual CAP, S pneumoniae CAP, 13-valent pneumococcal conjugate vaccine (PCV13) serotype CAP, and 20-valent pneumococcal conjugate vaccine (PCV20) serotype CAP incidences per 100,000 population were 1,280, 227, 63, and 110, respectively. S pneumoniae was detected in 17.8% of all patients with CAP by any detection method, with 4.9%, 5.5%, and 8.6% of cases of CAP resulting from PCV13, 15-valent pneumococcal conjugate vaccine, and PCV20 serotypes, respectively. Applying Goto’s incidence and case fatality rate to the Japanese population, assuming PCV20 has the same vaccine efficacy and duration of protection as PCV13 and if licensed in Japan for the prevention of CAP, the inclusion of PCV20 in the national immunization program for adults ≥ 65 years of age could prevent 29,036 cases of CAP and 2,275 CAP-related deaths per year.

Interpretation

Given the substantial burden of preventable pneumococcal disease, introduction of pneumococcal conjugate vaccines in Japanese adults may be of merit.

背景:2014年日本将23价肺炎球菌多糖疫苗引入≥65岁成人国家免疫规划后,很少有研究测量社区获得性肺炎(CAP)和肺炎球菌疫苗型CAP的负担。在这项研究中,我们估计了2015年至2020年日本成年人中CAP和肺炎链球菌CAP的发病率。研究问题:日本成人CAP和肺炎链球菌CAP的发病率是多少?肺炎链球菌CAP患者常见的肺炎球菌血清型有哪些?研究设计和方法本前瞻性人群为基础的多中心主动监测研究招募了日本后藤市年龄≥18岁的临床和放射学证实的CAP患者。使用标准护理血液和痰培养、BinaxNOW(雅培)和血清型特异性尿抗原检测检测肺炎链球菌。结果共纳入2103例CAP患者;84%的患者年龄≥65岁,6.7%的患者在研究期间死亡。每年的CAP、S肺炎球菌CAP、13价肺炎球菌结合疫苗(PCV13)血清型CAP和20价肺炎球菌结合疫苗(PCV20)血清型CAP发病率分别为每10万人1,280、227、63和110。采用各种检测方法,17.8%的CAP患者检出肺炎链球菌,其中4.9%、5.5%和8.6%的CAP病例来自PCV13、15价肺炎球菌结合疫苗和PCV20血清型。将Goto的发病率和病死率应用于日本人口,假设PCV20具有与PCV13相同的疫苗效力和保护持续时间,并且如果PCV20在日本获得预防CAP的许可,那么将PCV20纳入65岁以上成年人的国家免疫规划,每年可预防29,036例CAP病例和2,275例CAP相关死亡。考虑到可预防肺炎球菌疾病的巨大负担,在日本成年人中引入肺炎球菌结合疫苗可能是有益的。
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引用次数: 0
Invasive Cardiopulmonary Exercise Testing Identifies Distinct Physiologic Endotypes in Postacute Sequelae of SARS-CoV-2 Infection 有创心肺运动试验识别SARS-CoV-2感染急性后后遗症的不同生理性内源性类型
Pub Date : 2023-07-18 DOI: 10.1016/j.chpulm.2023.100010
Michael G. Risbano MD, MA, FCCP , Corrine R. Kliment MD, PhD , Daniel G. Dunlap MD , Carl Koch MD , Luiz Campedelli MD , Karla Yoney PA-C , S. Mehdi Nouraie MD, PhD , Frank Sciurba MD , Alison Morris MD

Background

Exercise intolerance and dyspnea on exertion are prominent symptoms in postacute sequelae of COVID-19 (PASC) that significantly impact quality of life, but underlying physiologic contributors are not well understood. Invasive cardiopulmonary exercise testing (iCPET) uses right heart catheterization, arterial access, and standard cardiopulmonary exercise testing to identify pathophysiology in undifferentiated exercise intolerance.

Research Question

What are the distinguishing clinical and physiologic features of exercise intolerant PASC and associated physiologic endotypes?

Study Design and Methods

We performed a cross-sectional observational study with prospective enrollment of consecutive patients with dyspnea and/or exercise-intolerant PASC who were referred for iCPET > 3 months after SARS-CoV-2 infection. All patients underwent history, physical examination, pulmonary function testing, echocardiogram, laboratory work, and chest imaging. We completed a detailed cardiopulmonary and hemodynamic analysis of 37 patients with iCPET to categorize PASC endotypes.

Results

We evaluated 37 patients with PASC and dyspnea on exertion and/or exercise intolerance for a median of 323 days after COVID-19 diagnosis. We compared 12 patients (32.4%) who demonstrated a normal exercise capacity (normal oxygen consumption [V˙o2]) with 25 patients (67.6%) that had a reduced peak V˙o2. We then identified distinct PASC endotypes with iCPET including preload insufficiency, decreased oxygen extraction, mixed preload insufficiency with decreased oxygen extraction, exercise pulmonary hypertension, chronic pulmonary embolism, deconditioning, and ventilatory limitation, which included physiologic abnormalities in patients with PASC with normal exercise capacity. Nine of the 12 patients with normal V˙o2 had normal exercise physiology (one had evidence of exercise pulmonary hypertension and two had decreased oxygen extraction) yet still presented with symptoms of exercise intolerance.

Interpretation

iCPET identified heterogeneous physiologic endotypes in patients with PASC presenting with similar symptoms of exercise intolerance or dyspnea on exertion. Future studies are needed to define associated pathogenesis and target effective therapies based on these physiologic endotypes.

背景运动不耐受和运动时呼吸困难是新冠肺炎急性后后遗症的突出症状,对生活质量有显著影响,但其潜在的生理因素尚不清楚。有创心肺运动试验(iCPET)使用右心导管插入术、动脉介入和标准心肺运动测试来确定未分化运动不耐受的病理生理学。研究问题运动不耐受性PASC和相关生理内型的临床和生理特征有哪些?研究设计和方法我们进行了一项横断面观察性研究,前瞻性纳入了被转诊为iCPET>;严重急性呼吸系统综合征冠状病毒2型感染后3个月。所有患者均接受了病史、体格检查、肺功能测试、超声心动图、实验室检查和胸部影像学检查。我们完成了对37名iCPET患者的详细心肺和血液动力学分析,以对PASC内型进行分类。结果我们评估了37名患有PASC和因运动和/或运动不耐受而呼吸困难的患者,诊断为新冠肺炎后平均323天。我们比较了12名表现出正常运动能力(正常耗氧量[V*o2])的患者(32.4%)和25名峰值V*o2降低的患者(67.6%)。然后,我们用iCPET确定了不同的PASC内型,包括预负荷不足、吸氧量减少、预负荷不足与吸氧量减少混合、运动性肺动脉高压、慢性肺栓塞、去适应和通气限制,其中包括运动能力正常的PASC患者的生理异常。12名V*o2正常的患者中,有9人运动生理正常(1人有运动性肺动脉高压的证据,2人吸氧量减少),但仍表现出运动不耐受的症状。解释iCPET在PASC患者中发现了异质性生理内型,表现出类似的运动不耐受或运动时呼吸困难症状。未来的研究需要确定相关的发病机制,并基于这些生理内型靶向有效的治疗。
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引用次数: 0
Impact of the Social Vulnerability Index on Pulmonary Embolism Mortality 社会脆弱性指数对肺栓塞死亡率的影响
Pub Date : 2023-06-01 DOI: 10.1016/j.chpulm.2023.100006
Ramzi Ibrahim MD , Coco Victoria Gomez Tirambulo MPH , Rebecca Wig MBBS , Roger Y. Kim MD, MSCE , Bryan S. Benn MD, PhD , See-Wei Low MD
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引用次数: 0
Variation in Incidence of Pneumothorax Complications After Percutaneous Lung Biopsies Among Veterans Health Administration Hospitals 退伍军人卫生管理医院经皮肺活检后气胸并发症发生率的变化
Pub Date : 2023-06-01 DOI: 10.1016/j.chpulm.2023.100005
Kierstin Hederstedt BS , Nathan Mesfin MD , Mikhail C.S.S. Higgins MD, MPH , Daniel J. Sturgeon MS , Westyn Branch-Elliman MD, MMSc , Marva V. Foster PhD, RN , Hillary J. Mull PhD, MPP
{"title":"Variation in Incidence of Pneumothorax Complications After Percutaneous Lung Biopsies Among Veterans Health Administration Hospitals","authors":"Kierstin Hederstedt BS ,&nbsp;Nathan Mesfin MD ,&nbsp;Mikhail C.S.S. Higgins MD, MPH ,&nbsp;Daniel J. Sturgeon MS ,&nbsp;Westyn Branch-Elliman MD, MMSc ,&nbsp;Marva V. Foster PhD, RN ,&nbsp;Hillary J. Mull PhD, MPP","doi":"10.1016/j.chpulm.2023.100005","DOIUrl":"https://doi.org/10.1016/j.chpulm.2023.100005","url":null,"abstract":"","PeriodicalId":94286,"journal":{"name":"CHEST pulmonary","volume":"1 1","pages":"Article 100005"},"PeriodicalIF":0.0,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49703051","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Patient and Physician Assessments of Clinical Status 病人和医生的临床状态评估
Pub Date : 2023-06-01 DOI: 10.1016/j.chpulm.2023.100003
Amanda Grant-Orser MBBCh , Nicola A. Adderley MD , Katelyn Stuart , Charlene D. Fell MD , Kerri A. Johannson MD, MPH

Background

The SARS-CoV-2 pandemic necessitated novel health care delivery for patients with interstitial lung disease (ILD), including reduced in-person appointments and physiologic testing to minimize transmission. Clinicians often have been required to rely on patients’ subjective assessments of their clinical status during phone follow-up appointments. It is unknown how accurate a patient’s self-assessment is compared with that of their physician during an in-person evaluation.

Research Question

Are patients’ self-assessments of their clinical status in agreement with their physicians’ assessments, and are telemedicine vs in-person visits acceptable?

Study Design and Methods

Patients were enrolled prospectively from the University of Calgary ILD clinic. Participants were asked by phone before the in-person appointment and after the appointment to rate their clinical status on a five-point Likert scale. Physicians then rated the patient’s clinical status after the appointment on a similar five-point Likert scale, masked to patient responses. Patients and physicians were asked if an in-person appointment was necessary or if telemedicine would have sufficed. Clinical variables associated with physician assessments were assessed.

Results

Fifty patients with mean age of 67 ± 11.8 years participated. Mean time since last follow-up was 5.0 ± 3.0 months. No correlation was found between the preclinical patient self-assessment and postclinical physician assessment (P = .18; κ = 0.28). Correlation of postclinical assessment was statistically significant (P < .001), with moderate agreement (κ = 0.49). Physicians thought telephone visits were acceptable for 58% of appointments, whereas only 12% of patients preferred telephone visits. Physician’s assessment of clinical status seemed to be driven by change in diffusion capacity of the lungs for carbon monoxide (P = .039).

Interpretation

Telemedicine may improve access to care for patients during pandemic management, in rural communities, and for those with impaired mobility. Despite these benefits, our data support that patients and physicians may not agree on determination of clinical status and that patients generally prefer in-person patient-physician interactions.

背景严重急性呼吸系统综合征冠状病毒2型大流行需要为间质性肺病(ILD)患者提供新的医疗服务,包括减少当面预约和生理测试,以最大限度地减少传播。临床医生通常被要求在电话随访预约期间依赖患者对其临床状态的主观评估。在面对面的评估中,患者的自我评估与医生的自我评估相比有多准确尚不清楚。研究问题患者对其临床状态的自我评估是否与医生的评估一致,远程医疗与面对面就诊是否可以接受?研究设计和方法前瞻性地从卡尔加里大学ILD诊所招募患者。参与者在面对面预约前和预约后通过电话被要求用五点Likert量表对他们的临床状态进行评分。然后,医生在预约后用类似的Likert五分量表对患者的临床状态进行评分,并对患者的反应进行掩盖。患者和医生被问及是否有必要亲自预约,或者远程医疗是否足够。评估了与医师评估相关的临床变量。结果50例患者平均年龄67±11.8岁。自上次随访以来的平均时间为5.0±3.0个月。临床前患者自我评估和临床后医生评估之间没有发现相关性(P=.18;κ=0.28)。临床后评估的相关性具有统计学意义(P<;.001),中度一致(κ=0.49)。医生认为58%的预约可以接受电话就诊,而只有12%的患者更喜欢电话就诊。医生对临床状况的评估似乎是由肺部一氧化碳扩散能力的变化驱动的(P=.039)。解释远程医疗可能会改善疫情管理期间、农村社区和行动不便患者获得护理的机会。尽管有这些好处,但我们的数据支持,患者和医生可能在确定临床状态方面存在分歧,患者通常更喜欢与患者和医生进行面对面的互动。
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引用次数: 0
Primary Ciliary Dyskinesia 原发性纤毛运动障碍
Pub Date : 2023-06-01 DOI: 10.1016/j.chpulm.2023.100004
Michael Glenn O’Connor MD , Ricardo Mosquera MD , Hilda Metjian MD , Meghan Marmor MD , Kenneth N. Olivier MD, MPH , Adam J. Shapiro MD

Primary ciliary dyskinesia (PCD) is a rare but underdiagnosed disorder that affects motile cilia function throughout the body. With increasing prevalence through ongoing genetic discovery, PCD underlies the disease process in a significant number of patients with chronic suppurative lung disease and bronchiectasis when properly investigated using current diagnostic standards. Classic PCD symptoms include chronic rhinosinusitis and otitis, organ laterality defects, infertility, year-round productive cough, and recurrent pneumonias with bronchiectasis. Clinical symptoms of PCD manifest very early in life (often at birth), although diagnosis frequently is delayed because of poor phenotypic recognition and limited access to specialized diagnostic testing. In the past decade, PCD research networks have established specific PCD phenotypes to increase clinical recognition, and the availability of PCD genetic panels in various commercial laboratories has expanded access to an accurate PCD diagnosis greatly. Clinical practice guidelines also were created to guide diagnosis and management of this rare but increasingly recognized suppurative respiratory disease. PCD is more common than previously thought and can be recognized through specific clinical phenotypes in both children and adults. Diagnostic PCD testing outside of highly specialized centers can be difficult, but increased availability of nasal nitric oxide measurement and commercial genetic panels now allows for noninvasive screening and definitive diagnosis regardless of center expertise. Identification of patients with accurately diagnosed PCD is needed worldwide to populate future clinical trials and to develop disease-specific therapies for PCD.

原发性纤毛运动障碍(PCD)是一种罕见但诊断不足的疾病,影响全身活动纤毛功能。随着不断进行的基因发现使PCD的患病率不断增加,当使用当前的诊断标准进行适当调查时,PCD是大量慢性化脓性肺病和支气管扩张症患者疾病过程的基础。典型的PCD症状包括慢性鼻窦炎和中耳炎、器官偏侧缺陷、不孕、全年生产性咳嗽和复发性肺炎伴支气管扩张。PCD的临床症状在生命早期就表现出来(通常在出生时),尽管由于表型识别能力差和专业诊断测试的机会有限,诊断经常被推迟。在过去的十年中,PCD研究网络已经建立了特定的PCD表型,以提高临床认可度,各种商业实验室中PCD基因面板的可用性大大扩大了获得准确PCD诊断的机会。还制定了临床实践指南,以指导这种罕见但日益被认可的化脓性呼吸道疾病的诊断和管理。PCD比以前认为的更常见,并且可以通过儿童和成人的特定临床表型来识别。在高度专业化的中心之外进行诊断性PCD测试可能很困难,但鼻一氧化氮测量和商业基因小组的可用性增加,现在无论中心的专业知识如何,都可以进行无创筛查和最终诊断。全世界都需要识别准确诊断的PCD患者,以进行未来的临床试验并开发PCD的疾病特异性疗法。
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引用次数: 1
Announcing the Launch of CHEST Pulmonary and the CHEST Portfolio of Journals 宣布推出CHEST Pulmonary和CHEST期刊组合
Pub Date : 2023-06-01 DOI: 10.1016/j.chpulm.2023.100001
Matthew C. Miles MD, MEd, FCCP
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引用次数: 0
期刊
CHEST pulmonary
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