Respiratory Medicine Case Reports最新文献_第9页

First report of DNAI2-associated primary ciliary dyskinesia in Libya: A case from a nonconsanguineous marriage 利比亚首次报道dnai2相关的原发性纤毛运动障碍：一例来自非近亲婚姻

IF 0.7

Respiratory Medicine Case Reports Pub Date : 2025-01-01 DOI: 10.1016/j.rmcr.2025.102281

Ziyad Fathi Alatrash , Abdulgader ahmed Elbousify , Ahmed Ibrahim Elbousify

{"title":"First report of DNAI2-associated primary ciliary dyskinesia in Libya: A case from a nonconsanguineous marriage","authors":"Ziyad Fathi Alatrash , Abdulgader ahmed Elbousify , Ahmed Ibrahim Elbousify","doi":"10.1016/j.rmcr.2025.102281","DOIUrl":"10.1016/j.rmcr.2025.102281","url":null,"abstract":"<div><div>Primary ciliary dyskinesia (PCD) is an autosomal recessive condition resulting from defects in motile cilia structure and function, impairing mucociliary clearance. This defect predisposes such patients to frequent sinopulmonary infections. The chronic productive cough is a key symptom, with progressive bronchiectasis as a common accompaniment, although diagnosis is delayed, with the mean age at diagnosis being about 11 years. Recent studies have indicated that PCD is highly genetically heterogeneous with more than 50 PCD genes identified to date. Herein, we describe an 11-year-old child with clinical and radiologic characteristics of PCD, from a non-consanguineous family, in whom genetic testing indicated a rare homozygous mutation in DNAI2. This case emphasizes the importance of a high level of suspicion of PCD in children with a history of recurrent, unexplained respiratory infections. The ability to diagnose this new disease at the molecular level rapidly is significant for early and specific treatment, and emphasizes the critical importance of a close cooperation between the clinicians and the family for effective care and control of the patient. Our results support inclusion of comprehensive genetic testing in the first tier diagnostic approach to accelerate the time to accurate diagnosis of PCD.</div></div>","PeriodicalId":51565,"journal":{"name":"Respiratory Medicine Case Reports","volume":"58 ","pages":"Article 102281"},"PeriodicalIF":0.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145099226","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 rare case of miliary blastomycosis 罕见的细菌性芽孢菌病1例

IF 0.8

Respiratory Medicine Case Reports Pub Date : 2025-01-01 DOI: 10.1016/j.rmcr.2025.102203

Laura E. Ramirez , Alexander K. Foyt , Noureldien Darwish , Llewellyn Foulke , Christian Kostowniak , Amit Chopra

引用次数: 0

Clinical case of co-infection: Dengue fever and respiratory mycoplasmosis in a child 儿童登革热和呼吸道支原体病合并感染临床报告1例。

IF 0.8

Respiratory Medicine Case Reports Pub Date : 2025-01-01 DOI: 10.1016/j.rmcr.2024.102158

D.V. Preobrazhenskaia, E.V. Melekhina, Zh.B. Ponezheva

{"title":"Clinical case of co-infection: Dengue fever and respiratory mycoplasmosis in a child","authors":"D.V. Preobrazhenskaia, E.V. Melekhina, Zh.B. Ponezheva","doi":"10.1016/j.rmcr.2024.102158","DOIUrl":"10.1016/j.rmcr.2024.102158","url":null,"abstract":"<div><div>According to WHO, dengue fever (DF) is currently endemic to more than 100 countries in various regions of Africa, America, and Asia; outbreaks have been reported in Europe. In the Russian Federation, there is a much smaller proportion of children among those infected due to the imported nature of the infection.</div><div>We described a clinical case of imported dengue fever in an adolescent girl in Moscow after a 5-day vacation. Despite the fact that during the examination at the hospital in the Maldives, DENV arbovirus antigen was isolated in the blood by immunochromatographic rapid test, the course of the disease had a number of symptoms that did not conform to the classical course of the disease: catarrhal symptoms, cough, elevated C-reactive protein, and radiographic evidences of right-sided maxillary sinusitis. No improvement in the condition was observed despite the therapy administered. Additional examination confirmed an active infection caused by <em>M. pneumoniae</em>. After correction of etiotropic and pathogenetic therapy, the patient was discharged with recovery on day 10 of the disease.</div><div>After 4 years since the start of the pandemic, an increase in infectious morbidity, particularly DF, has been observed. The proportion of co-infections is increasing. Co-infection of DF and respiratory mycoplasmosis in children may occur masked as an acute respiratory viral infection (ARVI): with intensification of catarrhal and intoxication syndromes and atypical changes in laboratory parameters. All that complicates clinical and laboratory diagnosis and leads to incorrect administration of starting etiotropic therapy.</div></div>","PeriodicalId":51565,"journal":{"name":"Respiratory Medicine Case Reports","volume":"53 ","pages":"Article 102158"},"PeriodicalIF":0.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11754817/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143030295","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 case report: Endobronchial ultrasound guided biopsy of radiographically normal size thoracic lymph nodes supporting diagnosis of cardiac sarcoidosis 支气管超声引导下正常大小胸椎淋巴结活检支持心脏结节病诊断一例报告。

IF 0.8

Respiratory Medicine Case Reports Pub Date : 2025-01-01 DOI: 10.1016/j.rmcr.2024.102146

Jee Young You, Manuel L. Ribeiro Neto

引用次数: 0

Addressing the consequences of missing vaccines: A case report of pertussis in a child with acute lymphoblastic leukemia 解决缺失疫苗的后果：一例百日咳患儿急性淋巴细胞白血病报告

IF 0.8

Respiratory Medicine Case Reports Pub Date : 2025-01-01 DOI: 10.1016/j.rmcr.2025.102173

Diana Marcela Perea Rojas , Indiana Luz Rojas Torres , Luis Enrique Perea Vásquez

{"title":"Addressing the consequences of missing vaccines: A case report of pertussis in a child with acute lymphoblastic leukemia","authors":"Diana Marcela Perea Rojas , Indiana Luz Rojas Torres , Luis Enrique Perea Vásquez","doi":"10.1016/j.rmcr.2025.102173","DOIUrl":"10.1016/j.rmcr.2025.102173","url":null,"abstract":"<div><div>Pertussis, caused primarily by Bordetella pertussis and occasionally by Bordetella parapertussis, remains a major public health issue despite widespread vaccination efforts. Immunocompromised children, such as those with acute lymphoblastic leukemia, are particularly susceptible to vaccine-preventable diseases, underscoring the importance of ensuring adequate vaccination coverage. We report a case of a 3-year-old boy with ALL who developed a Bordetella parapertussis infection during chemotherapy. The child's lack of documented pertussis vaccination underscores critical gaps in primary healthcare and immunization practices. His case highlights the increased risk of severe infections in unvaccinated, immunocompromised patients and underscores the necessity of maintaining comprehensive vaccination records and robust primary healthcare systems to prevent such infections. The rapid diagnosis and initiation of appropriate antimicrobial therapy, highlights the critical role of early detection and tailored interventions in preventing severe outcomes.</div></div>","PeriodicalId":51565,"journal":{"name":"Respiratory Medicine Case Reports","volume":"53 ","pages":"Article 102173"},"PeriodicalIF":0.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143155574","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

Pancreatopleural fistula: A rare cause of recurrent pleural effusion 胰胸膜瘘：复发性胸腔积液的罕见原因。

IF 0.8

Respiratory Medicine Case Reports Pub Date : 2025-01-01 DOI: 10.1016/j.rmcr.2024.102163

Zehra Dhanani , Stephen Dachert

引用次数: 0

Primary malignant melanoma of the lung; a case report and literature review 原发性肺恶性黑色素瘤；病例报告及文献复习。

IF 0.8

Respiratory Medicine Case Reports Pub Date : 2025-01-01 DOI: 10.1016/j.rmcr.2024.102161

Yub Raj Sedhai , Roshan Acharya , Priyanka Bhat , Subha Saeed , Hamza Sohail , Shreedhar Kunwar , Suman Kadariya , Muhammad Altaf Ahmed , Irfan Waheed , Rodney Steff , Tahir Muhammad Abdullah Khan , Nisar Kazimuddin , Karan Singh

引用次数: 0

Role of nasal high-frequency oscillatory ventilation in a premature infant with severe bronchopulmonary dysplasia 鼻高频振荡通气在重度支气管肺发育不良早产儿中的作用

IF 0.8

Respiratory Medicine Case Reports Pub Date : 2025-01-01 DOI: 10.1016/j.rmcr.2025.102226

Akiho Ueda-Kuramochi , Kazumi Morisawa , Takeshi Arimitsu, Kazuma Shimura, Kaori Hara-Isono, Takane Kin, Mariko Hida

{"title":"Role of nasal high-frequency oscillatory ventilation in a premature infant with severe bronchopulmonary dysplasia","authors":"Akiho Ueda-Kuramochi , Kazumi Morisawa , Takeshi Arimitsu, Kazuma Shimura, Kaori Hara-Isono, Takane Kin, Mariko Hida","doi":"10.1016/j.rmcr.2025.102226","DOIUrl":"10.1016/j.rmcr.2025.102226","url":null,"abstract":"<div><div>To prevent the worsening of bronchopulmonary disease (BPD), early extubation is desirable. However, in extremely preterm infants, BPD tends to become severe, making early extubation difficult and leading to prolonged intubation. Even if the intubation period is prolonged, feasible respiratory strategies for extubation in extremely preterm infants during the chronic phase of severe BPD are necessary. In preterm infants, nasal high-frequency oscillatory ventilation (NHFOV) can support breathing after extubation immediately after birth, but whether NHFOV is effective as respiratory support after extubation in the chronic phase of severe BPD in extremely preterm infants is unclear. Especially for extremely preterm births or infants with extremely low birth weights, early extubation is difficult. Although such infants' postmenstrual age and weight increase during long-term ventilator support, their respiratory function is very poor compared with that of preterm infants born at a gestational age equivalent to such infants' postmenstrual age owing to substantial lung damage caused by the ventilator. For this reason, extubation in the chronic phase of BPD may also be challenging. In this report, we describe a case of a marginally viable infant who was born at 23 weeks’ gestation weighing 374 g, required 2 months of intubation after birth owing to severe BPD, and was successfully extubated using NHFOV. This case report suggests that NHFOV may be an effective respiratory strategy for very low birth weight infants with severe BPD.</div></div>","PeriodicalId":51565,"journal":{"name":"Respiratory Medicine Case Reports","volume":"56 ","pages":"Article 102226"},"PeriodicalIF":0.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143942315","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

Pulmonary sarcomatoid carcinoma presenting as a lung abscess: A case report 以肺脓肿表现的肺肉瘤样癌1例报告

IF 0.8

Respiratory Medicine Case Reports Pub Date : 2025-01-01 DOI: 10.1016/j.rmcr.2025.102258

Kazutoshi Toriyama , Nao Shioiri , Yukihisa Takeda , Yuko Iwata , Tomonori Uruma , Munehide Nakatsugawa , Naohiro Kajiwara , Kenji Tsushima

引用次数: 0

Successful treatment with pembrolizumab for microsatellite instability-high thymic carcinoma: A case report 派姆单抗成功治疗微卫星不稳定性高胸腺癌1例

IF 0.7

Respiratory Medicine Case Reports Pub Date : 2025-01-01 DOI: 10.1016/j.rmcr.2025.102272

Yuichi Sakamori, Kentaro Hamada, Hiroaki Kawachi, Mako Yamoto, Akari Fukao, Satoshi Terashita, Kizuku Watanabe, Tatsuyoshi Ikeue, Takakazu Sugita

{"title":"Successful treatment with pembrolizumab for microsatellite instability-high thymic carcinoma: A case report","authors":"Yuichi Sakamori, Kentaro Hamada, Hiroaki Kawachi, Mako Yamoto, Akari Fukao, Satoshi Terashita, Kizuku Watanabe, Tatsuyoshi Ikeue, Takakazu Sugita","doi":"10.1016/j.rmcr.2025.102272","DOIUrl":"10.1016/j.rmcr.2025.102272","url":null,"abstract":"<div><h3>Introduction</h3><div>Thymic carcinoma is a rare, aggressive malignancy, and in cases of metastasis, palliative chemotherapy is the typical treatment. Microsatellite instability (MSI)-high tumors are more likely to respond to immune checkpoint inhibitors, such as pembrolizumab, than to other types of chemotherapy. However, MSI-high thymic carcinoma is extremely rare, with limited reports on the efficacy of pembrolizumab in this context.</div></div><div><h3>Case</h3><div>A 72-year-old woman with metastatic thymic carcinoma (Masaoka stage IVA) and concurrent breast cancer was confirmed to have an MSI-high status through biopsy. Following progression after first-line carboplatin and paclitaxel, pembrolizumab (400 mg) was administered as fourth-line therapy. CT imaging after one month revealed significant tumor shrinkage, including lesions outside the irradiation field. A sustained partial response was observed for four months after a single cycle of pembrolizumab.</div></div><div><h3>Discussion</h3><div>This case demonstrates the potential efficacy of pembrolizumab in treating MSI-high thymic carcinoma, emphasizing the importance of MSI testing in such cases. Routine MSI evaluation should be considered to identify candidates for immunotherapy. Further research is needed to confirm the role of pembrolizumab in this rare malignancy and to establish its broader applicability under similar conditions.</div></div>","PeriodicalId":51565,"journal":{"name":"Respiratory Medicine Case Reports","volume":"57 ","pages":"Article 102272"},"PeriodicalIF":0.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144723461","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