首页 > 最新文献

Respiratory investigation最新文献

英文 中文
Clinical characteristics and prognosis of pulmonary aspergillosis complicating interstitial lung diseases 肺曲霉病并发间质性肺疾病的临床特点及预后
IF 2 Q2 RESPIRATORY SYSTEM Pub Date : 2025-10-23 DOI: 10.1016/j.resinv.2025.10.010
Yuya Ito , Takahiro Takazono , Hirokazu Yura , Masataka Yoshida , Kazuaki Takeda , Shotaro Ide , Naoki Iwanaga , Noriho Sakamoto , Katsunori Yanagihara , Hiroshi Mukae

Background

Pulmonary aspergillosis can complicate interstitial lung diseases (ILDs) during immunosuppressive treatment. This study aimed to clarify the clinical characteristics and prognostic differences of pulmonary aspergillosis in patients with ILDs by disease subtypes.

Methods

Patients diagnosed with both ILDs and pulmonary aspergillosis were retrospectively analyzed at Nagasaki University Hospital between October 1, 2008, and March 31, 2022. Pulmonary aspergillosis was categorized as invasive pulmonary aspergillosis (IPA) or chronic pulmonary aspergillosis (CPA). CPA was further subdivided into simple pulmonary aspergilloma (SPA), chronic cavitary pulmonary aspergillosis (CCPA), and subacute invasive aspergillosis (SAIA). Clinical characteristics and prognostic outcomes were compared among the subtypes.

Results

Fifty patients with both diseases were analyzed: 38 had CPA and 12 had IPA. All patients with IPA had a history of corticosteroid use and a significantly higher prevalence of diabetes mellitus than those with CPA. In contrast, honeycombing changes on chest computed tomography (CT) were more frequently observed in patients with CPA than in those with IPA. Kaplan–Meier analysis showed that patients with IPA had significantly higher mortality rates than those with CPA, and that among CPA subtypes, patients with SAIA had significantly higher mortality rates than those with SPA or CCPA. Univariate analysis showed that the presence of SAIA or IPA was significantly associated with 1-year mortality compared to other subtypes. The type of underlying ILD did not affect the prognosis.

Conclusions

Clinical characteristics and prognoses of pulmonary aspergillosis in patients with ILDs vary by subtype.
背景肺曲霉病在免疫抑制治疗期间可使间质性肺疾病(ILDs)复杂化。本研究旨在阐明不同疾病亚型肺曲菌病患者肺曲菌病的临床特点及预后差异。方法回顾性分析2008年10月1日至2022年3月31日在长崎大学附属医院诊断为肺曲霉病和ild的患者。肺曲霉病分为侵袭性肺曲霉病(IPA)和慢性肺曲霉病(CPA)。CPA进一步细分为单纯性肺曲霉病(SPA)、慢性空腔性肺曲霉病(CCPA)和亚急性侵袭性曲霉病(SAIA)。比较不同亚型患者的临床特点和预后。结果分析两种疾病共50例,其中CPA 38例,IPA 12例。所有IPA患者均有皮质类固醇使用史,糖尿病患病率明显高于CPA患者。相比之下,胸部计算机断层扫描(CT)上的蜂窝状变化在CPA患者中比在IPA患者中更常见。Kaplan-Meier分析显示,IPA患者的死亡率明显高于CPA患者,而在CPA亚型中,SAIA患者的死亡率明显高于SPA或CCPA患者。单因素分析显示,与其他亚型相比,SAIA或IPA的存在与1年死亡率显著相关。潜在ILD的类型不影响预后。结论肺曲霉病不同亚型患者的临床特点及预后不同。
{"title":"Clinical characteristics and prognosis of pulmonary aspergillosis complicating interstitial lung diseases","authors":"Yuya Ito ,&nbsp;Takahiro Takazono ,&nbsp;Hirokazu Yura ,&nbsp;Masataka Yoshida ,&nbsp;Kazuaki Takeda ,&nbsp;Shotaro Ide ,&nbsp;Naoki Iwanaga ,&nbsp;Noriho Sakamoto ,&nbsp;Katsunori Yanagihara ,&nbsp;Hiroshi Mukae","doi":"10.1016/j.resinv.2025.10.010","DOIUrl":"10.1016/j.resinv.2025.10.010","url":null,"abstract":"<div><h3>Background</h3><div>Pulmonary aspergillosis can complicate interstitial lung diseases (ILDs) during immunosuppressive treatment. This study aimed to clarify the clinical characteristics and prognostic differences of pulmonary aspergillosis in patients with ILDs by disease subtypes.</div></div><div><h3>Methods</h3><div>Patients diagnosed with both ILDs and pulmonary aspergillosis were retrospectively analyzed at Nagasaki University Hospital between October 1, 2008, and March 31, 2022. Pulmonary aspergillosis was categorized as invasive pulmonary aspergillosis (IPA) or chronic pulmonary aspergillosis (CPA). CPA was further subdivided into simple pulmonary aspergilloma (SPA), chronic cavitary pulmonary aspergillosis (CCPA), and subacute invasive aspergillosis (SAIA). Clinical characteristics and prognostic outcomes were compared among the subtypes.</div></div><div><h3>Results</h3><div>Fifty patients with both diseases were analyzed: 38 had CPA and 12 had IPA. All patients with IPA had a history of corticosteroid use and a significantly higher prevalence of diabetes mellitus than those with CPA. In contrast, honeycombing changes on chest computed tomography (CT) were more frequently observed in patients with CPA than in those with IPA. Kaplan–Meier analysis showed that patients with IPA had significantly higher mortality rates than those with CPA, and that among CPA subtypes, patients with SAIA had significantly higher mortality rates than those with SPA or CCPA. Univariate analysis showed that the presence of SAIA or IPA was significantly associated with 1-year mortality compared to other subtypes. The type of underlying ILD did not affect the prognosis.</div></div><div><h3>Conclusions</h3><div>Clinical characteristics and prognoses of pulmonary aspergillosis in patients with ILDs vary by subtype.</div></div>","PeriodicalId":20934,"journal":{"name":"Respiratory investigation","volume":"63 6","pages":"Pages 1293-1299"},"PeriodicalIF":2.0,"publicationDate":"2025-10-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145361654","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
Diagnostic value of nonpurulent sputum in nontuberculous mycobacterial lung disease: A cross-sectional study based on the Miller and Jones classification 非结核性分枝杆菌肺病非化脓性痰的诊断价值:基于Miller和Jones分类的横断面研究
IF 2 Q2 RESPIRATORY SYSTEM Pub Date : 2025-10-22 DOI: 10.1016/j.resinv.2025.10.009
Minako Hanaka , Kazunori Tobino

Background

Sputum quality is widely considered a determinant of microbiological diagnostic yield in respiratory infections. However, its significance in the context of nontuberculous mycobacterial (NTM) lung disease remains unclear. This study aimed to investigate the association between sputum quality, as assessed using the Miller and Jones classification, and the detection rates of NTM via smear microscopy, polymerase chain reaction (PCR), and culture.

Methods

We conducted a cross-sectional study of 54 patients diagnosed with NTM lung disease at a single institution in Japan between September 2021 and September 2022. A total of 158 sputum samples were visually classified into five categories (M1–P3). Diagnostic yield was assessed using auramine-O fluorescence staining, Mycobacterium avium complex–polymerase chain reaction, and mycobacterial culture. Bacterial co-detection and treatment status were also analyzed.

Results

Nonpurulent sputum samples (M1 and M2) comprised over 60 % of all specimens and demonstrated clinically relevant positivity rates: 33 % for M1 and over 50 % for M2 by culture. No significant association was found between sputum quality and smear, PCR, or culture positivity. Purulent sputum (P2–P3) was significantly associated with bacterial co-detection (p = 0.0008), particularly Pseudomonas aeruginosa.

Conclusions

Sputum purulence was not associated with diagnostic yield for NTM. Nonpurulent samples should not be excluded from diagnostic evaluation. These findings support current guideline recommendations and highlight the importance of repeated sputum collection and adjunctive diagnostic tools in NTM lung disease.
背景:痰质被广泛认为是呼吸道感染微生物诊断产率的决定因素。然而,其在非结核分枝杆菌(NTM)肺病中的意义尚不清楚。本研究旨在探讨采用Miller和Jones分级法评估的痰液质量与涂片镜检、聚合酶链反应(PCR)和培养的NTM检出率之间的关系。方法:我们对2021年9月至2022年9月期间在日本一家机构诊断为NTM肺病的54例患者进行了横断面研究。158份痰液标本目视分为5类(M1-P3)。采用auramine-O荧光染色、鸟分枝杆菌复合体-聚合酶链反应和分枝杆菌培养评估诊断率。分析了细菌共检及治疗情况。结果:非化脓性痰样本(M1和M2)占所有样本的60%以上,并显示出临床相关的阳性率:培养M1为33%,M2为50%以上。痰液质量与涂片、PCR或培养阳性无显著相关性。脓性痰(P2-P3)与细菌共检显著相关(p = 0.0008),特别是铜绿假单胞菌。结论:痰脓与NTM的诊断率无关。不应将非化脓性样本排除在诊断评估之外。这些发现支持了目前的指南建议,并强调了反复痰液收集和辅助诊断工具在NTM肺部疾病中的重要性。
{"title":"Diagnostic value of nonpurulent sputum in nontuberculous mycobacterial lung disease: A cross-sectional study based on the Miller and Jones classification","authors":"Minako Hanaka ,&nbsp;Kazunori Tobino","doi":"10.1016/j.resinv.2025.10.009","DOIUrl":"10.1016/j.resinv.2025.10.009","url":null,"abstract":"<div><h3>Background</h3><div>Sputum quality is widely considered a determinant of microbiological diagnostic yield in respiratory infections. However, its significance in the context of nontuberculous mycobacterial (NTM) lung disease remains unclear. This study aimed to investigate the association between sputum quality, as assessed using the Miller and Jones classification, and the detection rates of NTM via smear microscopy, polymerase chain reaction (PCR), and culture.</div></div><div><h3>Methods</h3><div>We conducted a cross-sectional study of 54 patients diagnosed with NTM lung disease at a single institution in Japan between September 2021 and September 2022. A total of 158 sputum samples were visually classified into five categories (M1–P3). Diagnostic yield was assessed using auramine-O fluorescence staining, <em>Mycobacterium avium</em> complex–polymerase chain reaction, and mycobacterial culture. Bacterial co-detection and treatment status were also analyzed.</div></div><div><h3>Results</h3><div>Nonpurulent sputum samples (M1 and M2) comprised over 60 % of all specimens and demonstrated clinically relevant positivity rates: 33 % for M1 and over 50 % for M2 by culture. No significant association was found between sputum quality and smear, PCR, or culture positivity. Purulent sputum (P2–P3) was significantly associated with bacterial co-detection (p = 0.0008), particularly <em>Pseudomonas aeruginosa</em>.</div></div><div><h3>Conclusions</h3><div>Sputum purulence was not associated with diagnostic yield for NTM. Nonpurulent samples should not be excluded from diagnostic evaluation. These findings support current guideline recommendations and highlight the importance of repeated sputum collection and adjunctive diagnostic tools in NTM lung disease.</div></div>","PeriodicalId":20934,"journal":{"name":"Respiratory investigation","volume":"63 6","pages":"Pages 1287-1292"},"PeriodicalIF":2.0,"publicationDate":"2025-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145355514","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
Comment on “Reduced hemoglobin-corrected diffusing capacity in pulmonary arterial hypertension with preserved pulmonary function and morphology” 评论“血红蛋白校正的肺动脉高压弥散能力降低,肺功能和形态保留”。
IF 2 Q2 RESPIRATORY SYSTEM Pub Date : 2025-10-21 DOI: 10.1016/j.resinv.2025.09.013
Zhikun Zheng
{"title":"Comment on “Reduced hemoglobin-corrected diffusing capacity in pulmonary arterial hypertension with preserved pulmonary function and morphology”","authors":"Zhikun Zheng","doi":"10.1016/j.resinv.2025.09.013","DOIUrl":"10.1016/j.resinv.2025.09.013","url":null,"abstract":"","PeriodicalId":20934,"journal":{"name":"Respiratory investigation","volume":"63 6","pages":"Page 1286"},"PeriodicalIF":2.0,"publicationDate":"2025-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145346756","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
Differential associations between type 2 inflammation and airway mucus plugs in asthma, asthma-COPD overlap, and COPD 2型炎症和气道粘液塞在哮喘、哮喘-慢性阻塞性肺病重叠和慢性阻塞性肺病中的差异关联
IF 2 Q2 RESPIRATORY SYSTEM Pub Date : 2025-10-17 DOI: 10.1016/j.resinv.2025.10.007
Kazuki Oga , Yusuke Hayashi , Naoya Tanabe , Tomoki Maetani , Yusuke Shiraishi , Ryo Sakamoto , Hironobu Sunadome , Susumu Sato , Hisako Matsumoto , Atsuyasu Sato , Toyohiro Hirai

Background

The mechanisms by which type 2 (T2) inflammation affects airway mucus plugging in asthma, asthma‒chronic obstructive pulmonary disease (COPD) overlap (ACO), and COPD remain unclear despite their clinical relevance. This study examined whether increased fractional exhaled nitric oxide (FeNO) and peripheral blood eosinophil count (BEC) are differentially associated with mucus plugging among patients with asthma, ACO, and COPD.

Methods

The presence and scores of mucus plugs were cross-sectionally visually assessed on ultra-high-resolution computed tomography. The T2 inflammation level was categorized into three groups: low (FeNO <25 ppb and BEC <300/μL), middle (FeNO ≥25 ppb or BEC ≥300/μL), and high (FeNO ≥25 ppb and BEC ≥300/μL).

Results

A total of 245 patients who did not receive biologics or oral corticosteroids, including 81, 45, and 119 patients with asthma, ACO, and COPD, respectively, were classified into low, middle, and high T2 inflammation groups. In patients with asthma, increased T2 inflammation was associated with increased mucus plugging. In patients with ACO, the high T2 inflammation group had the highest prevalence of mucus plugs and the highest mucus plug scores, whereas no difference was found between the middle and low T2 inflammation groups. In patients with COPD, the prevalence and scoring of mucus plugs did not differ among the groups.

Conclusion

The combination of high FeNO and BEC was associated with mucus plugs in patients with asthma or ACO but not in patients with COPD, suggesting the need for a disease-based approach to mucus plug removal.
背景:2型(T2)炎症影响哮喘、哮喘-慢性阻塞性肺疾病(COPD)重叠(ACO)和COPD气道粘液堵塞的机制尚不清楚,尽管它们具有临床相关性。本研究探讨了哮喘、慢性阻塞性肺病和慢性阻塞性肺病患者呼出一氧化氮分数(FeNO)和外周血嗜酸性粒细胞计数(BEC)的增加是否与粘液堵塞存在差异。方法:在超高分辨率计算机断层扫描上对粘液塞的存在和评分进行横切面视觉评估。结果:共有245例未接受生物制剂或口服皮质类固醇治疗的患者(分别为81例、45例和119例哮喘、ACO和COPD患者)被分为低、中、高T2炎症组。在哮喘患者中,T2炎症增加与黏液堵塞增加相关。在ACO患者中,高T2炎症组粘液塞患病率最高,粘液塞评分最高,而中、低T2炎症组之间无差异。在COPD患者中,粘液塞的患病率和评分在两组之间没有差异。结论:高FeNO和BEC与哮喘或ACO患者的粘液塞相关,但与COPD患者无关,提示需要基于疾病的方法去除粘液塞。
{"title":"Differential associations between type 2 inflammation and airway mucus plugs in asthma, asthma-COPD overlap, and COPD","authors":"Kazuki Oga ,&nbsp;Yusuke Hayashi ,&nbsp;Naoya Tanabe ,&nbsp;Tomoki Maetani ,&nbsp;Yusuke Shiraishi ,&nbsp;Ryo Sakamoto ,&nbsp;Hironobu Sunadome ,&nbsp;Susumu Sato ,&nbsp;Hisako Matsumoto ,&nbsp;Atsuyasu Sato ,&nbsp;Toyohiro Hirai","doi":"10.1016/j.resinv.2025.10.007","DOIUrl":"10.1016/j.resinv.2025.10.007","url":null,"abstract":"<div><h3>Background</h3><div>The mechanisms by which type 2 (T2) inflammation affects airway mucus plugging in asthma, asthma‒chronic obstructive pulmonary disease (COPD) overlap (ACO), and COPD remain unclear despite their clinical relevance. This study examined whether increased fractional exhaled nitric oxide (FeNO) and peripheral blood eosinophil count (BEC) are differentially associated with mucus plugging among patients with asthma, ACO, and COPD.</div></div><div><h3>Methods</h3><div>The presence and scores of mucus plugs were cross-sectionally visually assessed on ultra-high-resolution computed tomography. The T2 inflammation level was categorized into three groups: low (FeNO &lt;25 ppb and BEC &lt;300/μL), middle (FeNO ≥25 ppb or BEC ≥300/μL), and high (FeNO ≥25 ppb and BEC ≥300/μL).</div></div><div><h3>Results</h3><div>A total of 245 patients who did not receive biologics or oral corticosteroids, including 81, 45, and 119 patients with asthma, ACO, and COPD, respectively, were classified into low, middle, and high T2 inflammation groups. In patients with asthma, increased T2 inflammation was associated with increased mucus plugging. In patients with ACO, the high T2 inflammation group had the highest prevalence of mucus plugs and the highest mucus plug scores, whereas no difference was found between the middle and low T2 inflammation groups. In patients with COPD, the prevalence and scoring of mucus plugs did not differ among the groups.</div></div><div><h3>Conclusion</h3><div>The combination of high FeNO and BEC was associated with mucus plugs in patients with asthma or ACO but not in patients with COPD, suggesting the need for a disease-based approach to mucus plug removal.</div></div>","PeriodicalId":20934,"journal":{"name":"Respiratory investigation","volume":"63 6","pages":"Pages 1279-1285"},"PeriodicalIF":2.0,"publicationDate":"2025-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145318721","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
Prognostic value of the serum neutrophil-to-lymphocyte ratio in patients with lung cancer undergoing pleurodesis during best supportive care: A retrospective cohort study 在最佳支持治疗期间,肺癌胸膜切除术患者血清中性粒细胞与淋巴细胞比值的预后价值:一项回顾性队列研究。
IF 2 Q2 RESPIRATORY SYSTEM Pub Date : 2025-10-17 DOI: 10.1016/j.resinv.2025.10.003
Kosuke Dobashi , Yasutaka Hirasawa , Kazuko Miyakawa-Tanaka , Aya Imura , Shinichi Matsuzaki , Ichiro Inoshima , Kunihiko Nakamura

Background

Pleurodesis is a palliative treatment for malignant pleural effusion (MPE). Guidelines recommend pleurodesis for patients with a better prognosis. However, accurately predicting survival is challenging. The neutrophil-to-lymphocyte ratio (NLR) has emerged as a prognostic biomarker in various cancers. This study aimed to investigate the prognostic significance of NLR in patients with lung cancer who underwent pleurodesis and subsequently received best supportive care (BSC) without further antitumor therapy.

Methods

In this retrospective observational study conducted at two Japanese hospitals, we reviewed the medical records of 47 consecutive patients diagnosed with both lung cancer and MPE who underwent pleurodesis between April 2011 and 2024. The primary analysis involved evaluating the predictive value of NLR for in-hospital mortality using receiver operating characteristic (ROC) curve analysis.

Results

Among the 47 patients included, 25 were non-survivors with significantly elevated NLR and C-reactive protein levels compared with the survivors. ROC curve analysis revealed that NLR was predictive of in-hospital mortality, with an area under the curve of 0.744 (p = 0.0187). The optimal cutoff value for NLR, determined by the Youden index, was 8.252. Furthermore, an NLR >9 was independently associated with increased mortality during hospitalization and at 60 days after adjusting for the LENT score (in-hospital adjusted odds ratio: 18.52; 95 % confidence interval, 2.210–405.0; p = 0.0049; 60-day p = 0.0157).

Conclusions

Among patients with lung cancer who underwent pleurodesis during BSC, an NLR >9 was associated with significantly higher mortality at both in-hospital and 60 days.
背景:胸膜切除术是恶性胸腔积液(MPE)的姑息性治疗方法。指南建议预后较好的患者行胸膜融合术。然而,准确预测生存率是一项挑战。中性粒细胞与淋巴细胞比率(NLR)已成为各种癌症的预后生物标志物。本研究旨在探讨NLR对肺癌胸膜切除术患者的预后意义,这些患者随后接受了最佳支持治疗(BSC),没有进一步的抗肿瘤治疗。方法:在这项在日本两家医院进行的回顾性观察研究中,我们回顾了2011年4月至2024年期间诊断为肺癌和MPE的47例连续患者的病历。初步分析采用受试者工作特征(ROC)曲线分析评估NLR对住院死亡率的预测价值。结果:在纳入的47例患者中,25例非幸存者,NLR和c反应蛋白水平与幸存者相比显著升高。ROC曲线分析显示,NLR可预测住院死亡率,曲线下面积为0.744 (p = 0.0187)。由约登指数确定的NLR最佳临界值为8.252。此外,NLR bb9与住院期间和调整LENT评分后60天死亡率增加独立相关(住院调整优势比:18.52;95%可信区间:2.210-405.0;p = 0.0049; 60天p = 0.0157)。结论:在BSC期间行胸膜切除术的肺癌患者中,NLR bbb9与住院和60天的死亡率显著升高相关。
{"title":"Prognostic value of the serum neutrophil-to-lymphocyte ratio in patients with lung cancer undergoing pleurodesis during best supportive care: A retrospective cohort study","authors":"Kosuke Dobashi ,&nbsp;Yasutaka Hirasawa ,&nbsp;Kazuko Miyakawa-Tanaka ,&nbsp;Aya Imura ,&nbsp;Shinichi Matsuzaki ,&nbsp;Ichiro Inoshima ,&nbsp;Kunihiko Nakamura","doi":"10.1016/j.resinv.2025.10.003","DOIUrl":"10.1016/j.resinv.2025.10.003","url":null,"abstract":"<div><h3>Background</h3><div>Pleurodesis is a palliative treatment for malignant pleural effusion (MPE). Guidelines recommend pleurodesis for patients with a better prognosis. However, accurately predicting survival is challenging. The neutrophil-to-lymphocyte ratio (NLR) has emerged as a prognostic biomarker in various cancers. This study aimed to investigate the prognostic significance of NLR in patients with lung cancer who underwent pleurodesis and subsequently received best supportive care (BSC) without further antitumor therapy.</div></div><div><h3>Methods</h3><div>In this retrospective observational study conducted at two Japanese hospitals, we reviewed the medical records of 47 consecutive patients diagnosed with both lung cancer and MPE who underwent pleurodesis between April 2011 and 2024. The primary analysis involved evaluating the predictive value of NLR for in-hospital mortality using receiver operating characteristic (ROC) curve analysis.</div></div><div><h3>Results</h3><div>Among the 47 patients included, 25 were non-survivors with significantly elevated NLR and C-reactive protein levels compared with the survivors. ROC curve analysis revealed that NLR was predictive of in-hospital mortality, with an area under the curve of 0.744 (<em>p</em> = 0.0187). The optimal cutoff value for NLR, determined by the Youden index, was 8.252. Furthermore, an NLR &gt;9 was independently associated with increased mortality during hospitalization and at 60 days after adjusting for the LENT score (in-hospital adjusted odds ratio: 18.52; 95 % confidence interval, 2.210–405.0; <em>p</em> = 0.0049; 60-day <em>p</em> = 0.0157).</div></div><div><h3>Conclusions</h3><div>Among patients with lung cancer who underwent pleurodesis during BSC, an NLR &gt;9 was associated with significantly higher mortality at both in-hospital and 60 days.</div></div>","PeriodicalId":20934,"journal":{"name":"Respiratory investigation","volume":"63 6","pages":"Pages 1274-1278"},"PeriodicalIF":2.0,"publicationDate":"2025-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145318718","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
Diagnostic utility of standardized assessment of ciliary ultrastructure by transmission electron microscopy in primary ciliary dyskinesia: a Japanese perspective 透射电子显微镜纤毛超微结构标准化评估在原发性纤毛运动障碍诊断中的应用:日本视角。
IF 2 Q2 RESPIRATORY SYSTEM Pub Date : 2025-10-15 DOI: 10.1016/j.resinv.2025.10.006
Akiko Miyabayashi , Keiko Wakabayashi , Hiroyuki Yamada , Masashi Ito , Kozo Morimoto , Minako Hijikata , Naoto Keicho

Background

Primary ciliary dyskinesia (PCD) is a rare genetic disorder associated with structural or functional ciliary defects. Its diagnosis usually requires a combination of tests, including observation of the cilium structure by transmission electron microscopy (TEM). In Japan, when TEM was previously the primary method for diagnosing PCD, there were no standardized methods for evaluating TEM findings, and the correlations with PCD-causing genes remained unclear.

Methods

Here, we evaluated 101 patients with suspected PCD using a standardized assessment of ciliary ultrastructure by TEM, based on the international guidelines that classify defects into Class 1 and Class 2.

Results

Class 1 or 2 ciliary defects on TEM were identified in 27 patients (26.7 %); Class 1 defects (n = 19) correlated well with the genotypes in Japanese patients with PCD, most commonly caused by DNAH5 and CCDC39/40. TEM proved valuable as a complementary tool, when genetic testing failed to yield a definitive diagnosis, particularly in cases where two heterozygous variants of unknown phase were identified in a single PCD-causing gene. It was especially informative in PCD patients with situs inversus. However, in cases involving homozygous DRC1 variants, which are most frequently identified among Japanese patients with PCD, only subtle ultrastructural defects were observed, highlighting the limitations of TEM as a standalone diagnostic method. Our study also demonstrated the need for and effectiveness of standardizing the assessment of ciliary ultrastructure by TEM.

Conclusions

The results of this study provide a crucial foundation for establishing a better TEM-based diagnostic system in Japan.
背景:原发性纤毛运动障碍(PCD)是一种罕见的遗传性疾病,与纤毛结构或功能性缺陷有关。其诊断通常需要综合检查,包括通过透射电子显微镜(TEM)观察纤毛结构。在日本,当TEM以前是诊断PCD的主要方法时,没有标准化的方法来评估TEM的结果,并且与PCD致病基因的相关性仍然不清楚。方法:在此,我们对101例疑似PCD患者进行了评估,根据国际指南将缺陷分为1级和2级,使用TEM对纤毛超微结构进行了标准化评估。结果:1级或2级纤毛缺损27例(26.7%);1类缺陷(n = 19)与日本PCD患者的基因型密切相关,最常见的是由DNAH5和CCDC39/40引起。当基因检测无法产生明确诊断时,TEM作为一种补充工具被证明是有价值的,特别是在单个pcd致病基因中鉴定出两个未知阶段的杂合变异体的情况下。在PCD逆位患者中尤其有用。然而,在涉及纯合子DRC1变异体的病例中(在日本PCD患者中最常见),仅观察到细微的超微结构缺陷,突出了TEM作为独立诊断方法的局限性。本研究也证实了用透射电镜对纤毛超微结构进行标准化评价的必要性和有效性。结论:本研究结果为在日本建立更好的tem诊断系统提供了重要的基础。
{"title":"Diagnostic utility of standardized assessment of ciliary ultrastructure by transmission electron microscopy in primary ciliary dyskinesia: a Japanese perspective","authors":"Akiko Miyabayashi ,&nbsp;Keiko Wakabayashi ,&nbsp;Hiroyuki Yamada ,&nbsp;Masashi Ito ,&nbsp;Kozo Morimoto ,&nbsp;Minako Hijikata ,&nbsp;Naoto Keicho","doi":"10.1016/j.resinv.2025.10.006","DOIUrl":"10.1016/j.resinv.2025.10.006","url":null,"abstract":"<div><h3>Background</h3><div>Primary ciliary dyskinesia (PCD) is a rare genetic disorder associated with structural or functional ciliary defects. Its diagnosis usually requires a combination of tests, including observation of the cilium structure by transmission electron microscopy (TEM). In Japan, when TEM was previously the primary method for diagnosing PCD, there were no standardized methods for evaluating TEM findings, and the correlations with PCD-causing genes remained unclear.</div></div><div><h3>Methods</h3><div>Here, we evaluated 101 patients with suspected PCD using a standardized assessment of ciliary ultrastructure by TEM, based on the international guidelines that classify defects into Class 1 and Class 2.</div></div><div><h3>Results</h3><div>Class 1 or 2 ciliary defects on TEM were identified in 27 patients (26.7 %); Class 1 defects (n = 19) correlated well with the genotypes in Japanese patients with PCD, most commonly caused by <em>DNAH5</em> and <em>CCDC39/40</em>. TEM proved valuable as a complementary tool, when genetic testing failed to yield a definitive diagnosis, particularly in cases where two heterozygous variants of unknown phase were identified in a single PCD-causing gene. It was especially informative in PCD patients with situs inversus. However, in cases involving homozygous <em>DRC1</em> variants, which are most frequently identified among Japanese patients with PCD, only subtle ultrastructural defects were observed, highlighting the limitations of TEM as a standalone diagnostic method. Our study also demonstrated the need for and effectiveness of standardizing the assessment of ciliary ultrastructure by TEM.</div></div><div><h3>Conclusions</h3><div>The results of this study provide a crucial foundation for establishing a better TEM-based diagnostic system in Japan.</div></div>","PeriodicalId":20934,"journal":{"name":"Respiratory investigation","volume":"63 6","pages":"Pages 1268-1273"},"PeriodicalIF":2.0,"publicationDate":"2025-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145313547","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
Efficacy of chest tube clamping prior to removal in patients with pneumothorax 胸管拔除前夹紧在气胸患者中的效果。
IF 2 Q2 RESPIRATORY SYSTEM Pub Date : 2025-10-14 DOI: 10.1016/j.resinv.2025.10.004
Masafumi Shimoda, Yoshiaki Tanaka, Kozo Morimoto, Ryo Yanagawa, Kozo Yoshimori, Shoji Kudoh

Background

Pneumothorax often requires chest drain insertion, and a clamping test is sometimes performed before removal to minimize lung re–collapse. However, evidence supporting its utility remains limited. This study evaluated the utility of the clamping procedure and identified risk factors associated with lung re–collapse.

Methods

We retrospectively analyzed 440 patients with pneumothorax treated at Fukujuji Hospital from January 2016 to April 2025. The primary outcome was the frequency of lung re–collapse during the clamping test. To identify associated risk factors, patients who experienced re–collapse during the test (re–collapse group) were compared with those who completed the test successfully (success group). Patients who did not undergo clamping (nonclamping group) were also reviewed.

Results

Among 440 patients, 355 underwent clamping, including 41 (11.5 %) in the re–collapse group. Incomplete lung expansion (61.0 % vs. 29.9 %, p < 0.001), the presence of lung fluctuations (82.9 % vs. 43.0 %, p < 0.001) before clamping, and a history of smoking (85.4 % vs. 65.1 %, p = 0.008) were significantly more common in the re–collapse group than in the success group. The relapse rates were 45.2 % among patients with all risk factors, 12.7 % among those with two risk factors, 3.5 % among those with one risk factor, and 2.6 % among those with none. Similar trends were observed in analyses including the nonclamping group.

Conclusion

The clamping test helped avoid chest tube reinsertion in 11.5 % of the patients. Incomplete lung expansion, fluctuations prior to clamping, and a history of smoking were identified as risk factors for re–collapse, suggesting their potential utility in guiding the need for clamping.
背景:气胸通常需要胸腔引流,有时在取出前进行夹紧试验,以尽量减少肺再次塌陷。然而,支持其效用的证据仍然有限。本研究评估了夹持手术的效用,并确定了与肺再塌陷相关的危险因素。方法:回顾性分析2016年1月至2025年4月在福大学医院治疗的440例气胸患者。主要观察指标是夹紧试验期间肺再塌陷的频率。为了确定相关的危险因素,将在测试过程中再次崩溃的患者(再次崩溃组)与成功完成测试的患者(成功组)进行比较。未夹持组(未夹持组)的患者也进行了回顾。结果:440例患者中355例行夹持术,其中再塌陷组41例(11.5%)。结论:夹持试验避免了11.5%的患者再次插入胸管。不完全肺扩张、夹持前的波动和吸烟史被确定为再次塌陷的危险因素,表明它们在指导夹持需求方面的潜在作用。
{"title":"Efficacy of chest tube clamping prior to removal in patients with pneumothorax","authors":"Masafumi Shimoda,&nbsp;Yoshiaki Tanaka,&nbsp;Kozo Morimoto,&nbsp;Ryo Yanagawa,&nbsp;Kozo Yoshimori,&nbsp;Shoji Kudoh","doi":"10.1016/j.resinv.2025.10.004","DOIUrl":"10.1016/j.resinv.2025.10.004","url":null,"abstract":"<div><h3>Background</h3><div>Pneumothorax often requires chest drain insertion, and a clamping test is sometimes performed before removal to minimize lung re–collapse. However, evidence supporting its utility remains limited. This study evaluated the utility of the clamping procedure and identified risk factors associated with lung re–collapse.</div></div><div><h3>Methods</h3><div>We retrospectively analyzed 440 patients with pneumothorax treated at Fukujuji Hospital from January 2016 to April 2025. The primary outcome was the frequency of lung re–collapse during the clamping test. To identify associated risk factors, patients who experienced re–collapse during the test (re–collapse group) were compared with those who completed the test successfully (success group). Patients who did not undergo clamping (nonclamping group) were also reviewed.</div></div><div><h3>Results</h3><div>Among 440 patients, 355 underwent clamping, including 41 (11.5 %) in the re–collapse group. Incomplete lung expansion (61.0 % vs. 29.9 %, <em>p</em> &lt; 0.001), the presence of lung fluctuations (82.9 % vs. 43.0 %, <em>p</em> &lt; 0.001) before clamping, and a history of smoking (85.4 % vs. 65.1 %, <em>p</em> = 0.008) were significantly more common in the re–collapse group than in the success group. The relapse rates were 45.2 % among patients with all risk factors, 12.7 % among those with two risk factors, 3.5 % among those with one risk factor, and 2.6 % among those with none. Similar trends were observed in analyses including the nonclamping group.</div></div><div><h3>Conclusion</h3><div>The clamping test helped avoid chest tube reinsertion in 11.5 % of the patients. Incomplete lung expansion, fluctuations prior to clamping, and a history of smoking were identified as risk factors for re–collapse, suggesting their potential utility in guiding the need for clamping.</div></div>","PeriodicalId":20934,"journal":{"name":"Respiratory investigation","volume":"63 6","pages":"Pages 1262-1267"},"PeriodicalIF":2.0,"publicationDate":"2025-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145302927","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-related factors in advanced lung cancer: A review of ECOG-PS, malnutrition, and sarcopenia 晚期肺癌患者相关因素:ECOG-PS、营养不良和肌肉减少症的综述
IF 2 Q2 RESPIRATORY SYSTEM Pub Date : 2025-10-11 DOI: 10.1016/j.resinv.2025.10.005
Shun Matsuura
Patient-related factors—including performance status, nutritional state, and physical function—are increasingly acknowledged as essential in guiding treatment choices and predicting prognosis for advanced lung cancer. Although the Eastern Cooperative Oncology Group Performance Status (ECOG-PS) is still the most widely used clinical measure, it is subjective by nature and often shows variation between assessors. Malnutrition and sarcopenia, which are frequently overlooked in everyday practice, have been identified as important prognostic indicators that can be measured objectively. This review examines how ECOG-PS, malnutrition, and sarcopenia interact, pointing out the shortcomings of relying solely on ECOG-PS and suggesting supplementary or alternative evaluation methods. Malnutrition, determined through a combination of serum albumin levels, inflammatory markers, and body mass index, was strongly linked to lower ECOG-PS scores and poorer survival. Sarcopenia—particularly when evaluated through muscle quality or functional measures such as grip strength and walking speed—is related to deteriorated ECOG-PS and worse treatment results. Although there is inconsistency in diagnostic standards and inherent limitations in retrospective research, the evidence indicates that integrating objective assessments of nutritional and functional status may improve personalized treatment strategies and prognostic precision. Using straightforward and easily available clinical measures could help identify physical inactivity earlier, enabling more suitable therapeutic actions. Assessing patient-related factors such as malnutrition and sarcopenia in addition to ECOG-PS before treatment may further enhance outcomes and quality of life for patients with advanced lung cancer.
患者相关因素——包括运动状态、营养状况和身体功能——越来越被认为是指导晚期肺癌治疗选择和预测预后的重要因素。尽管东部肿瘤合作小组绩效状态(ECOG-PS)仍然是最广泛使用的临床测量,但它本质上是主观的,并且在评估者之间经常显示差异。营养不良和肌肉减少症,这在日常实践中经常被忽视,已被确定为重要的预后指标,可以客观衡量。这篇综述探讨了ECOG-PS、营养不良和肌肉减少症是如何相互作用的,指出了仅仅依赖ECOG-PS的缺点,并提出了补充或替代评估方法。通过血清白蛋白水平、炎症标志物和体重指数的综合测定,营养不良与较低的ECOG-PS评分和较差的生存率密切相关。骨骼肌减少——尤其是通过肌肉质量或握力和步行速度等功能指标进行评估时——与ECOG-PS恶化和治疗效果恶化有关。尽管在回顾性研究中存在诊断标准的不一致性和固有的局限性,但有证据表明,将营养和功能状态的客观评估结合起来可能会提高个性化的治疗策略和预后的准确性。使用直接和容易获得的临床措施可以帮助更早地识别身体活动不足,从而采取更合适的治疗措施。在治疗前评估患者相关因素,如营养不良和肌肉减少症,以及ECOG-PS,可能会进一步提高晚期肺癌患者的预后和生活质量。
{"title":"Patient-related factors in advanced lung cancer: A review of ECOG-PS, malnutrition, and sarcopenia","authors":"Shun Matsuura","doi":"10.1016/j.resinv.2025.10.005","DOIUrl":"10.1016/j.resinv.2025.10.005","url":null,"abstract":"<div><div>Patient-related factors—including performance status, nutritional state, and physical function—are increasingly acknowledged as essential in guiding treatment choices and predicting prognosis for advanced lung cancer. Although the Eastern Cooperative Oncology Group Performance Status (ECOG-PS) is still the most widely used clinical measure, it is subjective by nature and often shows variation between assessors. Malnutrition and sarcopenia, which are frequently overlooked in everyday practice, have been identified as important prognostic indicators that can be measured objectively. This review examines how ECOG-PS, malnutrition, and sarcopenia interact, pointing out the shortcomings of relying solely on ECOG-PS and suggesting supplementary or alternative evaluation methods. Malnutrition, determined through a combination of serum albumin levels, inflammatory markers, and body mass index, was strongly linked to lower ECOG-PS scores and poorer survival. Sarcopenia—particularly when evaluated through muscle quality or functional measures such as grip strength and walking speed—is related to deteriorated ECOG-PS and worse treatment results. Although there is inconsistency in diagnostic standards and inherent limitations in retrospective research, the evidence indicates that integrating objective assessments of nutritional and functional status may improve personalized treatment strategies and prognostic precision. Using straightforward and easily available clinical measures could help identify physical inactivity earlier, enabling more suitable therapeutic actions. Assessing patient-related factors such as malnutrition and sarcopenia in addition to ECOG-PS before treatment may further enhance outcomes and quality of life for patients with advanced lung cancer.</div></div>","PeriodicalId":20934,"journal":{"name":"Respiratory investigation","volume":"63 6","pages":"Pages 1250-1261"},"PeriodicalIF":2.0,"publicationDate":"2025-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145280973","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
N-acetylcysteine inhalation improved sputum rheology in chronic productive cough: Clinical application in two cases n -乙酰半胱氨酸吸入改善慢性咳痰流变学:2例临床应用。
IF 2 Q2 RESPIRATORY SYSTEM Pub Date : 2025-10-08 DOI: 10.1016/j.resinv.2025.08.009
Haruhiko Ogawa , Yuka Uchida , Lydia Esteban Enjuto
This pilot study evaluated the effects of inhaled N-acetylcysteine (NAC) on sputum rheology in patients with chronic productive cough (CPC). Rheological measurements before and 30 min after inhalation were compared retrospectively in 16 outpatients receiving either NAC (n = 9) or bromhexine hydrochloride (BXH) (n = 7). NAC inhalation significantly reduced critical strain (γC), an indicator of sputum stringiness, from 2370 [1310–4390] % to 643 [389–700] % (median and interquartile range), with a significantly greater effect than BXH. This reduction was observed regardless of airway fungal colonization. In addition, two case reports, a 67-year-old man with bronchorrhea and a 79-year-old woman with refractory asthma, demonstrated improved quality-of-life scores evaluated with the Cough and Sputum Assessment Questionnaire (CASA-Q) and rheological improvement following 1–2 weeks of twice-daily NAC inhalation. These findings suggest that nebulized NAC may be a promising add-on therapy for refractory airway diseases characterized by high sputum stringiness (γC).
本初步研究评估了吸入n -乙酰半胱氨酸(NAC)对慢性咳痰(CPC)患者痰流变学的影响。回顾性比较16例接受NAC (n = 9)或盐酸溴克辛(BXH) (n = 7)门诊患者吸入前和吸入后30min的流变学指标。吸入NAC可显著降低痰液黏度指标——临界应变(γC),从2370[1310-4390]%降至643[389-700]%(中位数和四分位数范围),显著高于BXH。无论气道真菌定植与否,都观察到这种减少。此外,两例病例报告,一名患有支气管气管炎的67岁男性和一名患有难治性哮喘的79岁女性,在每天吸入两次NAC 1-2周后,咳嗽和痰评估问卷(CASA-Q)评估了生活质量评分和流变学改善。这些发现表明,雾化NAC可能是一种有希望的附加治疗难治性气道疾病,其特征是高痰黏度(γ - c)。
{"title":"N-acetylcysteine inhalation improved sputum rheology in chronic productive cough: Clinical application in two cases","authors":"Haruhiko Ogawa ,&nbsp;Yuka Uchida ,&nbsp;Lydia Esteban Enjuto","doi":"10.1016/j.resinv.2025.08.009","DOIUrl":"10.1016/j.resinv.2025.08.009","url":null,"abstract":"<div><div>This pilot study evaluated the effects of inhaled <em>N</em>-acetylcysteine (NAC) on sputum rheology in patients with chronic productive cough (CPC). Rheological measurements before and 30 min after inhalation were compared retrospectively in 16 outpatients receiving either NAC (<em>n</em> = 9) or bromhexine hydrochloride (BXH) (<em>n</em> = 7). NAC inhalation significantly reduced critical strain (<em>γ</em><sub>C</sub>), an indicator of sputum stringiness, from 2370 [1310–4390] % to 643 [389–700] % (median and interquartile range), with a significantly greater effect than BXH. This reduction was observed regardless of airway fungal colonization. In addition, two case reports, a 67-year-old man with bronchorrhea and a 79-year-old woman with refractory asthma, demonstrated improved quality-of-life scores evaluated with the Cough and Sputum Assessment Questionnaire (CASA-Q) and rheological improvement following 1–2 weeks of twice-daily NAC inhalation. These findings suggest that nebulized NAC may be a promising add-on therapy for refractory airway diseases characterized by high sputum stringiness (<em>γ</em><sub>C</sub>).</div></div>","PeriodicalId":20934,"journal":{"name":"Respiratory investigation","volume":"63 6","pages":"Pages 1246-1249"},"PeriodicalIF":2.0,"publicationDate":"2025-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145258964","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
Biallelic c.2709del and c.3020T>G cause DNAH11-related primary ciliary dyskinesia presenting with Kartagener syndrome: Possible novel phenotype of diffuse-twisting wave-like movements of airway epithelial cell populations 双等位基因c.2709del和c.3020T >g引起dnah11相关的原发性纤毛运动障碍,表现为Kartagener综合征:气道上皮细胞群弥漫性扭曲波状运动的可能新表型
IF 2 Q2 RESPIRATORY SYSTEM Pub Date : 2025-10-08 DOI: 10.1016/j.resinv.2025.09.023
Akira Umeda , Hidenori Kiyosawa , Kazuya Miyagawa , Yoshiyuki Ohira , Masataka Higuchi , Ho Namkoong , Takanori Asakura , Makoto Ishii , Naoki Hasegawa , Koichi Fukunaga
Primary ciliary dyskinesia (PCD) is a rare genetic disorder with ciliary dysfunction. The triad of situs inversus, chronic sinusitis, and bronchiectasis is termed Kartagener syndrome. We report a PCD patient presenting with Kartagener syndrome with a novel combination of DNAH11 alleles, i.e., a frameshift variant, c.2709del p.(Trp904Glyfs∗5), and a nonsense variant, c.3020T>G p.(Leu1007∗). The biallelic pathogenic variants were both rare and located close to the N-terminus. High-speed video microscopy revealed discordant cilia and diffuse-twisting wave-like movements of the airway epithelial cell populations. Researchers should note this phenomenon, and further investigation is necessary to clarify the role of DNAH11 in PCD.
原发性纤毛运动障碍(PCD)是一种罕见的遗传性疾病与纤毛功能障碍。逆位、慢性鼻窦炎和支气管扩张的三联征被称为卡塔赫纳综合征。我们报告了一名PCD患者,其表现为Kartagener综合征,具有DNAH11等位基因的新组合,即移码变体c.2709del p.(Trp904Glyfs * 5)和无意义变体c.3020T >gp .(Leu1007 *)。双等位基因致病性变异罕见且位于n端附近。高速视频显微镜显示不一致的纤毛和气道上皮细胞群的弥漫性扭曲波状运动。研究者应该注意到这一现象,并需要进一步的研究来阐明DNAH11在PCD中的作用。
{"title":"Biallelic c.2709del and c.3020T>G cause DNAH11-related primary ciliary dyskinesia presenting with Kartagener syndrome: Possible novel phenotype of diffuse-twisting wave-like movements of airway epithelial cell populations","authors":"Akira Umeda ,&nbsp;Hidenori Kiyosawa ,&nbsp;Kazuya Miyagawa ,&nbsp;Yoshiyuki Ohira ,&nbsp;Masataka Higuchi ,&nbsp;Ho Namkoong ,&nbsp;Takanori Asakura ,&nbsp;Makoto Ishii ,&nbsp;Naoki Hasegawa ,&nbsp;Koichi Fukunaga","doi":"10.1016/j.resinv.2025.09.023","DOIUrl":"10.1016/j.resinv.2025.09.023","url":null,"abstract":"<div><div>Primary ciliary dyskinesia (PCD) is a rare genetic disorder with ciliary dysfunction. The triad of situs inversus, chronic sinusitis, and bronchiectasis is termed Kartagener syndrome. We report a PCD patient presenting with Kartagener syndrome with a novel combination of <em>DNAH11</em> alleles, i.e., a frameshift variant, c.2709del p.(Trp904Glyfs∗5), and a nonsense variant, c.3020T&gt;G p.(Leu1007∗). The biallelic pathogenic variants were both rare and located close to the N-terminus. High-speed video microscopy revealed discordant cilia and diffuse-twisting wave-like movements of the airway epithelial cell populations. Researchers should note this phenomenon, and further investigation is necessary to clarify the role of DNAH11 in PCD.</div></div>","PeriodicalId":20934,"journal":{"name":"Respiratory investigation","volume":"63 6","pages":"Pages 1243-1245"},"PeriodicalIF":2.0,"publicationDate":"2025-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145258897","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
期刊
Respiratory investigation
全部 Acc. Chem. Res. ACS Applied Bio Materials ACS Appl. Electron. Mater. ACS Appl. Energy Mater. ACS Appl. Mater. Interfaces ACS Appl. Nano Mater. ACS Appl. Polym. Mater. ACS BIOMATER-SCI ENG ACS Catal. ACS Cent. Sci. ACS Chem. Biol. ACS Chemical Health & Safety ACS Chem. Neurosci. ACS Comb. Sci. ACS Earth Space Chem. ACS Energy Lett. ACS Infect. Dis. ACS Macro Lett. ACS Mater. Lett. ACS Med. Chem. Lett. ACS Nano ACS Omega ACS Photonics ACS Sens. ACS Sustainable Chem. Eng. ACS Synth. Biol. Anal. Chem. BIOCHEMISTRY-US Bioconjugate Chem. BIOMACROMOLECULES Chem. Res. Toxicol. Chem. Rev. Chem. Mater. CRYST GROWTH DES ENERG FUEL Environ. Sci. Technol. Environ. Sci. Technol. Lett. Eur. J. Inorg. Chem. IND ENG CHEM RES Inorg. Chem. J. Agric. Food. Chem. J. Chem. Eng. Data J. Chem. Educ. J. Chem. Inf. Model. J. Chem. Theory Comput. J. Med. Chem. J. Nat. Prod. J PROTEOME RES J. Am. Chem. Soc. LANGMUIR MACROMOLECULES Mol. Pharmaceutics Nano Lett. Org. Lett. ORG PROCESS RES DEV ORGANOMETALLICS J. Org. Chem. J. Phys. Chem. J. Phys. Chem. A J. Phys. Chem. B J. Phys. Chem. C J. Phys. Chem. Lett. Analyst Anal. Methods Biomater. Sci. Catal. Sci. Technol. Chem. Commun. Chem. Soc. Rev. CHEM EDUC RES PRACT CRYSTENGCOMM Dalton Trans. Energy Environ. Sci. ENVIRON SCI-NANO ENVIRON SCI-PROC IMP ENVIRON SCI-WAT RES Faraday Discuss. Food Funct. Green Chem. Inorg. Chem. Front. Integr. Biol. J. Anal. At. Spectrom. J. Mater. Chem. A J. Mater. Chem. B J. Mater. Chem. C Lab Chip Mater. Chem. Front. Mater. Horiz. MEDCHEMCOMM Metallomics Mol. Biosyst. Mol. Syst. Des. Eng. Nanoscale Nanoscale Horiz. Nat. Prod. Rep. New J. Chem. Org. Biomol. Chem. Org. Chem. Front. PHOTOCH PHOTOBIO SCI PCCP Polym. Chem.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1