Clinical Case Reports最新文献

{"title":"From Medication to Complication: A Case Report of Acute Eosinophilic Pneumonia Associated With Naltrexone","authors":"Amir Davoodi,&nbsp;Amy Bordogna,&nbsp;Jenna Guma,&nbsp;Shuyue Ren,&nbsp;Kathryn Haroldson","doi":"10.1002/ccr3.70372","DOIUrl":"https://doi.org/10.1002/ccr3.70372","url":null,"abstract":"<p>Naltrexone, increasingly used for substance use disorders, can induce acute eosinophilic pneumonia. Prompt recognition through exclusion of other causes and early corticosteroid initiation can ensure rapid improvement and prevent severe complications.</p>","PeriodicalId":10327,"journal":{"name":"Clinical Case Reports","volume":"13 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ccr3.70372","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143749287","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}

{"title":"Laparoscopic Pectopexy Using a Cervical Cerclage Tape and Native Tissue Repair to Correct Vaginal Vault Prolapse","authors":"Athanasios Protopapas,&nbsp;Nikolaos Kathopoulis,&nbsp;Athanasios Douligeris,&nbsp;Ioannis Chatzipapas,&nbsp;Themos Grigoriadis,&nbsp;Dimitrios Zacharakis,&nbsp;Konstantinos Kypriotis","doi":"10.1002/ccr3.70364","DOIUrl":"https://doi.org/10.1002/ccr3.70364","url":null,"abstract":"<p>Laparoscopic pectopexy, facilitated by a cervical cerclage tape for the suspension of the vaginal vault, presents a feasible alternative to mesh sacrocolpopexy for the management of POP.</p>","PeriodicalId":10327,"journal":{"name":"Clinical Case Reports","volume":"13 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ccr3.70364","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143749582","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}

{"title":"Genetic Insights Into Hyaline Fibromatosis Syndrome: A Case Report of an ANTXR2 Mutation Featuring a Rare Variant c.697+1G>A","authors":"Shabnam Hajiani Ghotbabadi,&nbsp;Reza Shiari,&nbsp;Shayan Yousufzai,&nbsp;Simin Sharifi","doi":"10.1002/ccr3.70312","DOIUrl":"https://doi.org/10.1002/ccr3.70312","url":null,"abstract":"<p>Hyaline fibromatosis syndrome (HFS) is a rare genetic disorder encompassing juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISH), caused by mutations in the anthrax toxin receptor 2 gene (<i>ANTXR2</i>). This condition leads to the accumulation of hyaline plaques in the skin and organs, resulting in symptoms such as skin lesions, joint contractures, and digestive issues, often culminating in early mortality due to infections or diarrhea. By 2005, 20 mutations in <i>ANTXR2</i> linked to ISH and JHF had been documented, impairing cellular adhesion to the laminin matrix. In this study, we present a case of a 6-month-old Iranian female of western Asian ethnicity, born to consanguineous parents. She exhibited hyperpigmentation of the proximal interphalangeal (PIP) joints, knee flexion contractures, persistent diarrhea, and failure to thrive. Initial assessments suggested arthrogryposis; however, the presence of hyperpigmented nodules and perianal plaques prompted further investigation. Genetic analysis confirmed a homozygous mutation in <i>ANTXR2</i> and incidental heterozygous mutations in the <i>HEXA</i> and <i>PAH</i> genes. The patient will undergo regular monitoring and may require immunosuppressive therapy and orthopedic interventions. Hyaline fibromatosis syndrome presents unique diagnostic challenges due to its overlap with other conditions like arthrogryposis. While arthrogryposis typically lacks systemic symptoms, HFS is marked by significant pain and systemic manifestations due to hyaline deposits in tissues. The case presented aligns with existing literature regarding HFS characteristics, including joint contractures and skin lesions. The identification of the c.697+1G&gt;A mutation at a splice site within the ANTXR2 gene highlights potential mechanisms contributing to HFS pathology. This finding emphasizes the necessity for comprehensive genetic profiling when diagnosing rare syndromes. Furthermore, low allele frequencies of this variant across population databases underscore its rarity and potential significance in disease manifestation. Hyaline fibromatosis syndrome (HFS) is an uncommon autosomal recessive disorder that is marked by notable clinical features, such as the deposition of hyaline material in various tissues, joint contractures, and systemic complications. The case discussed illustrates the diagnostic challenges associated with HFS, particularly in a young patient who presented with atypical symptoms that initially indicated arthrogryposis. Genetic analysis revealed a homozygous mutation in the ANTXR2 gene, specifically the c.697+1G&gt;A variant, which interferes with normal splicing and results in the absence of functional protein. This observation emphasizes the critical role of genetic testing in the precise diagnosis of rare syndromes and in differentiating them from other hereditary disorders.</p>","PeriodicalId":10327,"journal":{"name":"Clinical Case Reports","volume":"13 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ccr3.70312","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143749604","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}

{"title":"An Unusual Presentation of Tyrosinemia Type 1 in a Pediatric Patient: Case Report and Comprehensive Review","authors":"Mahsa Rouhafshari,&nbsp;Mohammad Hadi Imanieh,&nbsp;Mahdi Khazaei,&nbsp;Zahra Radaei,&nbsp;Hamide Barzegar","doi":"10.1002/ccr3.70384","DOIUrl":"https://doi.org/10.1002/ccr3.70384","url":null,"abstract":"<p>Tyrosinemia type 1 often manifests with liver, renal, or peripheral neuropathy disorders. Before therapies like nitisinone, management was limited to dietary modifications and liver transplantation. We present a 19-month-old girl who developed respiratory distress requiring intubation, with abnormal laboratory findings, including liver function tests. Further work-up, including succinylacetone testing, confirmed tyrosinemia. She responded remarkably to nitisinone treatment.</p>","PeriodicalId":10327,"journal":{"name":"Clinical Case Reports","volume":"13 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ccr3.70384","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143749798","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}

{"title":"Immunoglobulin G4–Related Disease of the Sternoclavicular Joint: A Case Report","authors":"Remi Mizuta,&nbsp;Shinnosuke Takemoto,&nbsp;Mutsumi Ozasa,&nbsp;Sawana Ono,&nbsp;Takahito Fukuda,&nbsp;Ryuta Tagawa,&nbsp;Fumiko Hayashi,&nbsp;Kazumasa Akagi,&nbsp;Hiromi Tomono,&nbsp;Hirokazu Taniguchi,&nbsp;Midori Matsuo,&nbsp;Hiroshi Gyotoku,&nbsp;Takahiro Takazono,&nbsp;Hiroshi Ishimoto,&nbsp;Noriho Sakamoto,&nbsp;Keitaro Matsumoto,&nbsp;Yasushi Obase,&nbsp;Tomoya Nishino,&nbsp;Hiroshi Mukae","doi":"10.1002/ccr3.70366","DOIUrl":"https://doi.org/10.1002/ccr3.70366","url":null,"abstract":"<p>This case highlights the possibility that Immunoglobulin G4-related disease (IgG4-RD) lesions can also occur in the sternoclavicular joint. If a neoplastic lesion is found in the sternoclavicular joint, a biopsy should be attempted to diagnose IgG4-RD as a differential.</p>","PeriodicalId":10327,"journal":{"name":"Clinical Case Reports","volume":"13 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ccr3.70366","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143749800","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}

{"title":"A PDLIM7 Variant in Familial Mitral Valve Prolapse: A Case Series","authors":"Aniek L. van Wijngaarden,&nbsp;Tamara T. Koopmann,&nbsp;Claudia A. L. Ruivenkamp,&nbsp;Hoi W. Wu,&nbsp;Nina Ajmone Marsan,&nbsp;Daniela Q. C. M. Barge-Schaapveld","doi":"10.1002/ccr3.70282","DOIUrl":"https://doi.org/10.1002/ccr3.70282","url":null,"abstract":"<p>In the presented case of familial mitral valve prolapse, whole exome sequencing was used to reveal a missense variant in the <i>PDLIM7</i> gene. This gene is considered a possible novel candidate gene for familial MVP based on PDLIM7 knock-out mice and zebrafish showing mitral valve abnormalities.</p>","PeriodicalId":10327,"journal":{"name":"Clinical Case Reports","volume":"13 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ccr3.70282","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143726907","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}

{"title":"Application of 35 kDa Hyaluronic Acid Fragment in Managing Persistent Localized Pain in Rheumatoid Arthritis : A Case Report","authors":"Li Liu,&nbsp;Xinyue Ma,&nbsp;Xiaoxiao Jia,&nbsp;Jessica H. Hui,&nbsp;Mizhou Hui","doi":"10.1002/ccr3.70361","DOIUrl":"https://doi.org/10.1002/ccr3.70361","url":null,"abstract":"<p>Rheumatoid arthritis (RA) is a chronic autoimmune disease characterized by systemic joint inflammation, leading to joint damage and pain. This case report presents a 58-year-old Chinese female who developed widespread joint pain after contracting mild COVID-19 and was subsequently diagnosed with RA. Her symptoms included joint swelling, pain, and abnormal serological markers. Initial treatment with methylprednisolone and tofacitinib was discontinued due to side effects, and she switched to a combined approach of herbal and Western medicine. After a year of treatment, her widespread pain and joint swelling largely resolved, leaving persistent localized pain in specific joints. To address this persistent localized pain, she received 35 kDa hyaluronan fragment (HA35) injections, resulting in significant improvement, including complete relief of elbow and knee pain and restored joint mobility. Continuous HA35 injections, followed by oral HA35 powder, also completely relieved her foot pain. This case highlights the effectiveness of HA35 in managing persistent RA pain, particularly for residual pain after conventional treatments, and suggests its potential as a therapeutic option.</p>","PeriodicalId":10327,"journal":{"name":"Clinical Case Reports","volume":"13 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ccr3.70361","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143726774","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}

{"title":"Identification of DICER1 Syndrome on the Basis of Familial, Early-Onset Differentiated Thyroid Cancer","authors":"Jessica Y. Wong,&nbsp;Alex Henderson,&nbsp;Simon Harper,&nbsp;Richard W. Carroll,&nbsp;Peter B. Bethwaite,&nbsp;Esko Wiltshire","doi":"10.1002/ccr3.70295","DOIUrl":"https://doi.org/10.1002/ccr3.70295","url":null,"abstract":"<p>DICER1 syndrome encompasses a wide range of phenotypes, and not all individuals with DICER1 syndrome develop aggressive soft tissue tumors. DICER1 syndrome and other genetic conditions predisposing to the development of thyroid tumors should be considered when a young patient presents with thyroid nodules and a positive family history.</p>","PeriodicalId":10327,"journal":{"name":"Clinical Case Reports","volume":"13 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ccr3.70295","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143726884","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}

{"title":"Intramuscular Soft Tissue Giant Cell Tumor of the Forearm: A Case Report","authors":"Kaissar Yammine,&nbsp;Emanuel-Youssef Dib,&nbsp;Moueen Bou Ghanem","doi":"10.1002/ccr3.70371","DOIUrl":"https://doi.org/10.1002/ccr3.70371","url":null,"abstract":"<p>We report the case of a 33-year-old female who presented with a painful, rapidly growing mass on her left dorsal forearm. Physical examination revealed a 2 cm firm, well-demarcated, non-erythematous nodule beneath the skin, with an initial diagnosis of lipoma. Upon removal, the mass was found to be intramuscular beneath the antebrachial fascia. The histopathology confirmed a benign giant cell tumor of soft tissue (GCT-ST). The patient was informed of the potential risk of recurrence, and regular follow-up was recommended. At the last follow-up, no clinical evidence of recurrence was noted. This report highlights a rare case of an intramuscular soft tissue GCT at an exceptional location, the forearm.</p>","PeriodicalId":10327,"journal":{"name":"Clinical Case Reports","volume":"13 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ccr3.70371","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143726879","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}

{"title":"Parotidectomy for Unilateral Pain Attributed to Sialosis","authors":"Evgeniya Molotkova,&nbsp;Piper Wenzel,&nbsp;Anand Rajan,&nbsp;Henry Hoffman","doi":"10.1002/ccr3.70373","DOIUrl":"https://doi.org/10.1002/ccr3.70373","url":null,"abstract":"<p>This case uniquely provides radiographic and histopathologic correlates offering insight into the poorly understood disorder of symptomatic sialosis (sialadeneosis). Sialosis is often managed conservatively, with surgical intervention reserved for symptomatic cases refractory to conservative management. The rarely employed surgical treatment is highlighted in this patient by relief of presenting symptoms accompanied by later complications.</p>","PeriodicalId":10327,"journal":{"name":"Clinical Case Reports","volume":"13 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ccr3.70373","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143726878","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}