Respiratory Medicine Case Reports最新文献

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High-frequency jet ventilation in managing airway during whole-lung lavage under general anesthesia: A case report 高频喷射通气在全麻全肺灌洗气道管理中的应用:1例报告
IF 0.8
Respiratory Medicine Case Reports Pub Date : 2025-01-01 DOI: 10.1016/j.rmcr.2025.102206
Renhua Ju , Xiaonan Du , Ling Yin , Yang Yu
{"title":"High-frequency jet ventilation in managing airway during whole-lung lavage under general anesthesia: A case report","authors":"Renhua Ju ,&nbsp;Xiaonan Du ,&nbsp;Ling Yin ,&nbsp;Yang Yu","doi":"10.1016/j.rmcr.2025.102206","DOIUrl":"10.1016/j.rmcr.2025.102206","url":null,"abstract":"<div><div>Pulmonary alveolar proteinosis (PAP) is a rare disorder characterized by the accumulation of surfactant-derived lipoproteins within alveoli and impaired macrophage function, leading to progressive dyspnea, hypoxemic respiratory failure, secondary infections, and pulmonary fibrosis. We report a case of a 43-year-old male with a history of occupational exposure to airborne dust from lathe work, presenting with exertional dyspnea. High-resolution computed tomography (HRCT) revealed bilateral patchy ground-glass opacities with interlobular septal thickening. Histopathological analysis of lung biopsy specimens showed eosinophilic amorphous material in alveolar spaces, which exhibited positive periodic acid-Schiff (PAS) staining with diastase resistance, confirming PAP. The patient underwent whole-lung lavage (WLL) of the right lung under general anesthesia. Severe baseline hypoxemia complicated intraoperative oxygen saturation maintenance. The intermittent use of high-frequency jet ventilation (HFJV) in the operative lung markedly improved oxygenation (SpO<sub>2</sub> increased from 85 % to 96 %) while ensuring effective saline distribution into distal alveoli. The procedure was completed without complications, highlighting the efficacy and safety of HFJV in managing complex airway conditions during WLL for PAP.</div></div>","PeriodicalId":51565,"journal":{"name":"Respiratory Medicine Case Reports","volume":"55 ","pages":"Article 102206"},"PeriodicalIF":0.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143850165","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
Expanding applications of 3D-Printed stents to non-stenotic airways 扩大3d打印支架在非狭窄气道中的应用
IF 0.8
Respiratory Medicine Case Reports Pub Date : 2025-01-01 DOI: 10.1016/j.rmcr.2025.102209
Ilana Roberts Krumm , Yaron B. Gesthalter
{"title":"Expanding applications of 3D-Printed stents to non-stenotic airways","authors":"Ilana Roberts Krumm ,&nbsp;Yaron B. Gesthalter","doi":"10.1016/j.rmcr.2025.102209","DOIUrl":"10.1016/j.rmcr.2025.102209","url":null,"abstract":"<div><div>Tracheobronchial stents have advanced significantly since their introduction in the 1980s, with virtual airway modeling and three-dimensional (3D) printing enabling the production of patient-specific custom airway stents. Since their FDA approval in 2019, 3D-printed custom stents have offered a promising solution for complex airway conditions. However, their use has primarily focused on tracheal stenosis and tracheobronchomalacia. The two cases presented here demonstrate novel applications of 3D printed stents in non-malignant airway diseases, specifically extrinsic vascular compression and bronchopleural fistula (BPF) from airway dehiscence.</div><div>The first case describes a 27-year-old male with tetralogy of Fallot complicated by extrinsic vascular compression of the bilateral mainstem bronchi, leading to recurrent mucus plugging, lung collapse, and respiratory failure. We designed a custom undersized Y stent to maintain airway patency while minimizing risks of vascular erosion. The second case details a 38-year-old post-lung transplant patient with a non-healing BPF with airway dehiscence and resultant respiratory failure. A bifurcated 3D-printed stent was successfully deployed to bypass the large fistula, resolving a chronic air leak.</div><div>These cases illustrate the versatility and potential of 3D-printed stents in addressing complex airway pathologies beyond tracheal stenosis or malacia and highlight critical considerations in stent design and deployment.</div></div>","PeriodicalId":51565,"journal":{"name":"Respiratory Medicine Case Reports","volume":"55 ","pages":"Article 102209"},"PeriodicalIF":0.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143834924","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
Squamous cell carcinoma of the bronchus associated with human papillomavirus infection 支气管鳞状细胞癌与人乳头瘤病毒感染有关。
IF 0.8
Respiratory Medicine Case Reports Pub Date : 2025-01-01 DOI: 10.1016/j.rmcr.2024.102162
Akane Toriyama , Satsuki Kishikawa , Shinichi Sasaki , Shiaki Oh , Shigeki Tomita , Takashi Yao
{"title":"Squamous cell carcinoma of the bronchus associated with human papillomavirus infection","authors":"Akane Toriyama ,&nbsp;Satsuki Kishikawa ,&nbsp;Shinichi Sasaki ,&nbsp;Shiaki Oh ,&nbsp;Shigeki Tomita ,&nbsp;Takashi Yao","doi":"10.1016/j.rmcr.2024.102162","DOIUrl":"10.1016/j.rmcr.2024.102162","url":null,"abstract":"<div><div>A woman in her 70s presented with an abnormal chest radiograph. Chest computed tomography showed a tumor arising from the intermediate bronchus. A bronchoscopic biopsy revealed squamous cell carcinoma, and right middle and lower bilobectomy was subsequently carried out. Histopathological examination of the resected specimen revealed squamous cell carcinoma associated with human papillomavirus infection.</div></div>","PeriodicalId":51565,"journal":{"name":"Respiratory Medicine Case Reports","volume":"53 ","pages":"Article 102162"},"PeriodicalIF":0.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11788789/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143123955","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A three dimensional printed endobronchial stent for the treatment of a broncho-esophageal fistula 三维打印支气管内支架治疗支气管-食管瘘
IF 0.8
Respiratory Medicine Case Reports Pub Date : 2025-01-01 DOI: 10.1016/j.rmcr.2025.102169
Illaa Smesseim , Sophia van Beelen , Jolanda M. van Dieren , Koen J. Hartemink , Johanna van Sandick , Jacobus A. Burgers
{"title":"A three dimensional printed endobronchial stent for the treatment of a broncho-esophageal fistula","authors":"Illaa Smesseim ,&nbsp;Sophia van Beelen ,&nbsp;Jolanda M. van Dieren ,&nbsp;Koen J. Hartemink ,&nbsp;Johanna van Sandick ,&nbsp;Jacobus A. Burgers","doi":"10.1016/j.rmcr.2025.102169","DOIUrl":"10.1016/j.rmcr.2025.102169","url":null,"abstract":"<div><div>Broncho-esophageal fistulas (BEFs) are a rare but serious complication that can occur after esophagectomy, often resulting in aspiration, respiratory issues, and infection. Management depends on fistula size and location, with options including conservative treatments, surgical closure and stenting. Conventional treatment involves esophageal stents, which may be insufficient for larger or more complex fistulas. This case report describes the first use of a 3D-printed airway stent in combination with an esophageal stent to treat a broncho-esophageal fistula. A 70-year-old patient with distal esophageal adenocarcinoma, treated with neoadjuvant chemoradiation, underwent robot-assisted minimally invasive esophagectomy. The procedure was complicated by a broncho-esophageal fistula, leading to multiple interventions. Despite dual stenting with a custom 3D airway stent, the fistula persisted, and the patient was transitioned to supportive care due to disease progression. This case, the first to use a 3D-printed airway stent for a broncho-esophageal fistula, demonstrates that the stent did not achieve closure, likely due to excessive pressure against the endobronchial wall. This underscores the need for improved 3D stent designs, offering important insights for interventional pulmonologists.</div></div>","PeriodicalId":51565,"journal":{"name":"Respiratory Medicine Case Reports","volume":"53 ","pages":"Article 102169"},"PeriodicalIF":0.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143155575","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Endobronchial hamartomas as a rare cause of chronic cough 支气管内错构瘤是一种罕见的慢性咳嗽病因
IF 0.8
Respiratory Medicine Case Reports Pub Date : 2025-01-01 DOI: 10.1016/j.rmcr.2025.102210
Selsabil Daboussi , Asma Saidane , Abdellatif Syrine , Samira Mhamdi , Faten Gargouri , Houssem Messaoudi , Saber Hachicha , Chiraz Aichaouia , Zied Moatemri
{"title":"Endobronchial hamartomas as a rare cause of chronic cough","authors":"Selsabil Daboussi ,&nbsp;Asma Saidane ,&nbsp;Abdellatif Syrine ,&nbsp;Samira Mhamdi ,&nbsp;Faten Gargouri ,&nbsp;Houssem Messaoudi ,&nbsp;Saber Hachicha ,&nbsp;Chiraz Aichaouia ,&nbsp;Zied Moatemri","doi":"10.1016/j.rmcr.2025.102210","DOIUrl":"10.1016/j.rmcr.2025.102210","url":null,"abstract":"<div><div>Hamartochondromas are rare benign lung tumors arising from the mesenchymal cells. The endobronchial location is not common (1.4 %).The symptoms are not specific and misleading mimicking a wide spectrum of diseases (Asthma, COPD, Bronchitis …) resulting in a diagnosis delay. We presented here a case of a 64-year patient who had complained of a persistent non-resolving chronic cough despite symptomatic treatments. The diagnosis of an endobronchial hamartoma was made via a repeat bronchial biopsy. The flexible endoscopy showed a white smooth polypoid mass occluding the lumen of the left laterobasal bronchus. A routine surveillance was initially considered. After a 12-year regular follow-up, he was admitted in our department of Pneumology for a recurrent pneumonia. The chest CT scan showed an endobronchial mass occluding the left laterobasal bronchus associated with an obstructive pneumonia. So, he underwent surgery. This benign neoplasia was totally removed by a segmentectomy. The post-operative macroscopic examination revealed a white, small, smooth, endobronchial mass with lobulated margins. The definitive histological exam showed a mixture of mature cartilage islands, mesenchymal tissue and fat. Therefore, the diagnosis of an endobronchial hamartoma was assessed. He was doing well one week after his hospital discharge. We also highlighted this benign lung tumor main clinical presentations, radiological findings as well as the therapeutic strategies and the outcomes.</div></div>","PeriodicalId":51565,"journal":{"name":"Respiratory Medicine Case Reports","volume":"55 ","pages":"Article 102210"},"PeriodicalIF":0.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143839500","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 and safety of lenvatinib in a case of thymic carcinoma complicated with interstitial lung disease and anti-melanoma differentiation-associated gene 5 antibody-positive dermatomyositis: A case report lenvatinib治疗胸腺癌合并间质性肺疾病和抗黑色素瘤分化相关基因5抗体阳性皮肌炎1例的疗效和安全性
IF 0.8
Respiratory Medicine Case Reports Pub Date : 2025-01-01 DOI: 10.1016/j.rmcr.2025.102181
Yuki Hatakeyama , Jun Sakakibara-Konishi , Masato Tarumi , Kosuke Tsuji , Hirofumi Takahashi , Megumi Furuta , Yuta Takashima , Hidenori Kitai , Tetsuaki Shoji , Yasuyuki Ikezawa , Satoshi Konno
{"title":"Efficacy and safety of lenvatinib in a case of thymic carcinoma complicated with interstitial lung disease and anti-melanoma differentiation-associated gene 5 antibody-positive dermatomyositis: A case report","authors":"Yuki Hatakeyama ,&nbsp;Jun Sakakibara-Konishi ,&nbsp;Masato Tarumi ,&nbsp;Kosuke Tsuji ,&nbsp;Hirofumi Takahashi ,&nbsp;Megumi Furuta ,&nbsp;Yuta Takashima ,&nbsp;Hidenori Kitai ,&nbsp;Tetsuaki Shoji ,&nbsp;Yasuyuki Ikezawa ,&nbsp;Satoshi Konno","doi":"10.1016/j.rmcr.2025.102181","DOIUrl":"10.1016/j.rmcr.2025.102181","url":null,"abstract":"<div><div>Based on the results of a multicenter phase II study of patients with previously treated thymic carcinoma, lenvatinib administration for unresectable thymic cancer has been covered under insurance in Japan since 2021. However, patients with interstitial lung disease (ILD) were excluded from that study; therefore, the efficacy and safety of lenvatinib in these patients remain unknown. Herein, we report the case of a woman in her 50s who was diagnosed with thymic carcinoma complicated with ILD. In August 2016, the patient developed ILD with anti-melanoma differentiation-associated gene 5 (MDA5) antibody-positive dermatomyositis (DM). She received triple therapy comprising prednisolone, tacrolimus and azathioprine. In October 2021, the patient complained of lateral chest pain and back pain. In January 2022, computed tomography (CT) revealed an anterior mediastinal tumor, and percutaneous biopsy resulted in a diagnosis of thymic carcinoma with Masaoka classification IVb. In March 2022, first-line treatment with four cycles of carboplatin (area under the curve, 6) + paclitaxel (200 mg/m<sup>2</sup>) was initiated. Although a partial response was achieved, in September 2022, CT demonstrated progressive disease (PD). Therefore, in October 2022, Lenvatinib (24 mg) was started as the second-line treatment. The best response was stable disease; moreover, although lenvatinib dose reduction was required owing to adverse events, such as biliary-tract infection and stomatitis. The patient did not experience ILD exacerbation. Lenvatinib (14 mg) was continued until PD was observed in March 2023. Our findings suggest that lenvatinib is a viable treatment option for thymic carcinoma with ILD.</div></div>","PeriodicalId":51565,"journal":{"name":"Respiratory Medicine Case Reports","volume":"54 ","pages":"Article 102181"},"PeriodicalIF":0.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143454507","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Acute myocardial infarction following inhaled treprostinil initiation 吸入曲前列地尼起始后急性心肌梗死
IF 0.8
Respiratory Medicine Case Reports Pub Date : 2025-01-01 DOI: 10.1016/j.rmcr.2025.102184
Bilal Alqam , Sarah Medrek
{"title":"Acute myocardial infarction following inhaled treprostinil initiation","authors":"Bilal Alqam ,&nbsp;Sarah Medrek","doi":"10.1016/j.rmcr.2025.102184","DOIUrl":"10.1016/j.rmcr.2025.102184","url":null,"abstract":"<div><div>An 81-year-old man with a history of interstitial lung disease attributed to idiopathic pulmonary fibrosis, severe aortic stenosis, and stable coronary artery disease was started on inhaled treprostinil for pulmonary hypertension associated with interstitial lung disease to optimize hemodynamics prior to the valve replacement procedure. However, two days after starting this treatment, the patient presented with an inferior-posterior ST elevation myocardial infarction. Urgent coronary angiography revealed a 95 % proximal right coronary artery stenosis, successfully treated with percutaneous coronary intervention and drug-eluting stent placement. This case raises a question of whether there could be a potential association between inhaled treprostinil initiation and acute myocardial infarction in patients with underlying coronary artery disease. With the documented stability of the patient's coronary artery disease prior to medication initiation, it is plausible to question whether treprostinil may have played a role in plaque destabilization.</div></div>","PeriodicalId":51565,"journal":{"name":"Respiratory Medicine Case Reports","volume":"54 ","pages":"Article 102184"},"PeriodicalIF":0.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143527248","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Non-classical pulmonary exacerbation in cystic fibrosis revealing ALK-Translocated lung cancer: A case report 囊性纤维化非典型性肺恶化显示alk易位性肺癌1例报告
IF 0.8
Respiratory Medicine Case Reports Pub Date : 2025-01-01 DOI: 10.1016/j.rmcr.2025.102171
Mohamad Hadhud , Johnathan Arnon , Anat Hershko-Moshe , Adi Hollander , Noa Hurvitz-Lehmann , Assaf Potruch , Henny Azmanov , Rottem Kuint , Nurith Hiller , Elie Picard , Naama Sebbag-Sznajder , Shira Leebhoff , Michael Wilschanski , Myriam Grunewald , Liron Birimberg-Schwartz , Malena Cohen-Cymberknoh
{"title":"Non-classical pulmonary exacerbation in cystic fibrosis revealing ALK-Translocated lung cancer: A case report","authors":"Mohamad Hadhud ,&nbsp;Johnathan Arnon ,&nbsp;Anat Hershko-Moshe ,&nbsp;Adi Hollander ,&nbsp;Noa Hurvitz-Lehmann ,&nbsp;Assaf Potruch ,&nbsp;Henny Azmanov ,&nbsp;Rottem Kuint ,&nbsp;Nurith Hiller ,&nbsp;Elie Picard ,&nbsp;Naama Sebbag-Sznajder ,&nbsp;Shira Leebhoff ,&nbsp;Michael Wilschanski ,&nbsp;Myriam Grunewald ,&nbsp;Liron Birimberg-Schwartz ,&nbsp;Malena Cohen-Cymberknoh","doi":"10.1016/j.rmcr.2025.102171","DOIUrl":"10.1016/j.rmcr.2025.102171","url":null,"abstract":"<div><div>Lung cancer is uncommon among people with cystic fibrosis (pwCF). We describe the case of a 35-year-old man with mild, stable CF disease who presented with severe respiratory distress, systemic symptoms, elevated liver enzymes and hypereosinophilia along with a lung mass and pleural effusion. The patient was subsequently diagnosed with non-small cell lung carcinoma (NSCLC), featuring anaplastic lymphoma kinase (ALK) translocation. Following treatment with a targeted tyrosine kinase inhibitor (TKI) there was a rapid tumor regression, however, his dyspnea and hypoxemia subsequently worsened. A trial of Elexacaftor/Tezacaftor/Ivacaftor (ETI) led to significant clinical improvement and enhanced pulmonary function. <em>In vitro</em> testing using patient-derived intestinal organoids was performed in parallel and also demonstrated a significant response to ETI. The deterioration observed following the initiation of ALK inhibitor treatment and subsequent improvement with CFTR modulators suggest that ALK inhibitor therapy may potentially impair CFTR activity. A better understanding of the relationship between these pathways could provide valuable insights and contribute to the development of more effective and tailored treatment strategies for patients with coexisting conditions<em>.</em> To our knowledge, this is the first reported case of ALK-translocated lung cancer in a CF patient, underscoring the necessity for a high degree of clinical suspicion in atypical presentations of pulmonary exacerbation and potentially linking ALK-EML4 activation pathways, TKI therapy and CFTR. Care for pwCF with lung cancer requires a unique multi-disciplinary approach to optimize their complex multifactorial treatment.</div></div>","PeriodicalId":51565,"journal":{"name":"Respiratory Medicine Case Reports","volume":"53 ","pages":"Article 102171"},"PeriodicalIF":0.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143155577","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The impact of interstitial lung disease in patients with acid sphingomyelinase deficiency (ASMD) - A case series 间质性肺疾病对酸性鞘磷脂酶缺乏症(ASMD)患者的影响-一个病例系列
IF 0.8
Respiratory Medicine Case Reports Pub Date : 2025-01-01 DOI: 10.1016/j.rmcr.2025.102202
Jordi Costa i Colomer , Marta Garcia-Moyano , Luis Maiz , Santiago Perez-Tarazona , Marta Ruiz de Valbuena , Leticia Ceberio , Patricia Correcher , Natalia Juliá-Palacios , Montse Morales , Gema Pérez-Yagüe , Jesús Villarrubia , Raquel Pérez-Rojo
{"title":"The impact of interstitial lung disease in patients with acid sphingomyelinase deficiency (ASMD) - A case series","authors":"Jordi Costa i Colomer ,&nbsp;Marta Garcia-Moyano ,&nbsp;Luis Maiz ,&nbsp;Santiago Perez-Tarazona ,&nbsp;Marta Ruiz de Valbuena ,&nbsp;Leticia Ceberio ,&nbsp;Patricia Correcher ,&nbsp;Natalia Juliá-Palacios ,&nbsp;Montse Morales ,&nbsp;Gema Pérez-Yagüe ,&nbsp;Jesús Villarrubia ,&nbsp;Raquel Pérez-Rojo","doi":"10.1016/j.rmcr.2025.102202","DOIUrl":"10.1016/j.rmcr.2025.102202","url":null,"abstract":"<div><h3>Background</h3><div>Lysosomal storage diseases (LSD) are inherited diseases caused by mutations affecting genes encoding the function of lysosomal enzymes. Acid sphingomyelinase deficiency (ASMD) is an ultra-rare, progressive, and often fatal LSD with an estimated prevalence of 1-in-50,000–250,000 individuals. The PrevASMD study established the ASMD prevalence in Spain at 35 patients. Almost all present asymptomatic interstitial lung disease (ILD), since &gt;90 % patients with chronic visceral ASMD have radiographic evidence of ILD.</div></div><div><h3>Objective</h3><div>This case series aims to emphasize the importance of ASMD in adult and pediatric patients with ILD, and to underline the consideration of pulmonary involvement as a key feature of the multisystemic manifestation of ASMD.</div></div><div><h3>Methods</h3><div>This case series describes seven adult and pediatric cases of ASMD in Spain. All presented with pulmonary function impairment. Data were collected on clinical presentation, diagnostic workup, pulmonary function tests, imaging studies, and patient outcomes during follow up.</div></div><div><h3>Results</h3><div>Sphingomyelin accumulation in ASMD leads to multi-systemic disease involving spleen, liver, lungs, bone marrow, and lymph nodes. Almost all patients presented with asymptomatic ILD, but not all of them exhibited respiratory symptoms and not all were referred to pulmonologists. Periodic assessments included pulmonary function testing (forced vital capacity and diffusing capacity for carbon monoxide), O2 saturation, and exercise tolerance testing.</div></div><div><h3>Conclusion</h3><div>ASMD patients presented with different target organ involvement, with lung involvement contributing significantly to patient morbi-mortality. ASMD diagnostic suspicion among pulmonologists treating ILD is thus crucial, as multidisciplinary monitoring of ILD as a feature of ASMD can ensure its correct management and follow-up.</div></div>","PeriodicalId":51565,"journal":{"name":"Respiratory Medicine Case Reports","volume":"55 ","pages":"Article 102202"},"PeriodicalIF":0.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143873726","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
A successful diagnostic case of Varicella zoster virus pneumonia by a Film Array assay for meningitis/encephalitis 用膜阵列检测脑膜炎/脑炎成功诊断水痘带状疱疹病毒肺炎一例
IF 0.8
Respiratory Medicine Case Reports Pub Date : 2025-01-01 DOI: 10.1016/j.rmcr.2025.102180
Nobuhiro Asai , Atsuko Yamada , Akiko Nakamura , Tomoko Ohno , Narimi Miyazaki , Yuzuka Kawamoto , Mina Takayama , Daisuke Sakanashi , Toshihiro Ohta , Yuichi Shibata , Hideo Kato , Mao Hagihara , Nobuaki Mori , Hiroshige Mikamo
{"title":"A successful diagnostic case of Varicella zoster virus pneumonia by a Film Array assay for meningitis/encephalitis","authors":"Nobuhiro Asai ,&nbsp;Atsuko Yamada ,&nbsp;Akiko Nakamura ,&nbsp;Tomoko Ohno ,&nbsp;Narimi Miyazaki ,&nbsp;Yuzuka Kawamoto ,&nbsp;Mina Takayama ,&nbsp;Daisuke Sakanashi ,&nbsp;Toshihiro Ohta ,&nbsp;Yuichi Shibata ,&nbsp;Hideo Kato ,&nbsp;Mao Hagihara ,&nbsp;Nobuaki Mori ,&nbsp;Hiroshige Mikamo","doi":"10.1016/j.rmcr.2025.102180","DOIUrl":"10.1016/j.rmcr.2025.102180","url":null,"abstract":"<div><h3>Introduction</h3><div>Although varicella zoster virus (VZV) infection is generally considered self-limiting and shows a favorable outcome, herpes zoster (HZ) can cause several complications such as neurological pain or meningitis, which lowers the patients’ quality of life. HZ rarely manifests VZV pneumonia, resulting in a poor prognosis with a high mortality rate of 10–30 % if requiring a mechanical ventilation. Here, we present a rare successfully managed case of VZV pneumonia.</div></div><div><h3>Case presentation</h3><div>A 90-year-old man with a medical history of angina pectoris, prostate cancer, dementia, and brain infarction was diagnosed with pneumonia and was admitted to our institute. Four days before the admission, he had visited our outpatient clinic, where he had received anti-herpes therapy due to HZ on the right limb. Although TAZ/PIPC was started empirically, his respiratory status deteriorated. On day 3, we performed a Film Array Meningitis/Encephalitis (ME) PCR panel on a sputum specimen and VZV was identified. Thus, he was diagnosed as having VZV pneumonia and antiviral therapy with acyclovir was started. Since the patient's condition was improved, the antiviral therapy was ended on day 18. Despite that his VZV pneumonia was successfully cured, he passed away due to old age on day 63.</div></div><div><h3>Conclusion</h3><div>Due to poor medical conditions, some elderly patients cannot tolerate bronchoalveolar lavage fluid for diagnosing VZV pneumonia. Film Array ME panel on sputum specimen is a useful method to the diagnosis of VZV pneumonia.</div></div>","PeriodicalId":51565,"journal":{"name":"Respiratory Medicine Case Reports","volume":"54 ","pages":"Article 102180"},"PeriodicalIF":0.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143511740","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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