A 75-year-old man with a fever, shoulder pain, and lower leg edema was diagnosed with polymyalgia rheumatica and started on glucocorticoid therapy. Eighteen months later, he was admitted with rapidly progressive renal failure. Glucocorticoid therapy had been discontinued one month prior to admission. Serum anti-glomerular basement membrane antibodies were elevated, and a kidney biopsy revealed fibrinoid necrosis of the medium-sized renal arteries, tubulointerstitial nephritis, and collapsed glomeruli. An immunofluorescence study showed mild immunoglobulin G linear deposition. Polyarteritis nodosa was diagnosed based on the presence of fibrinoid necrosis in the medium-sized renal arteries. Glucocorticoid pulse therapy and plasmapheresis were initiated, but the patient died of alveolar hemorrhaging. This was a rare case of Goodpasture syndrome with polyarteritis nodosa.
{"title":"A Rare Case of Goodpasture's Syndrome Combined with Polyarteritis Nodosa.","authors":"Hisashi Sugimoto, Naoki Sawa, Yuki Oba, Shigekazu Kurihara, Akinari Sekine, Noriko Inoue, Hiroki Mizuno, Masayuki Yamanouchi, Eiko Hasegawa, Tatsuya Suwabe, Kiho Tanaka, Kei Kono, Keiichi Kinowaki, Kenichi Ohashi, Yutaka Yamaguchi, Takehiko Wada, Yoshifumi Ubara","doi":"10.2169/internalmedicine.4460-24","DOIUrl":"https://doi.org/10.2169/internalmedicine.4460-24","url":null,"abstract":"<p><p>A 75-year-old man with a fever, shoulder pain, and lower leg edema was diagnosed with polymyalgia rheumatica and started on glucocorticoid therapy. Eighteen months later, he was admitted with rapidly progressive renal failure. Glucocorticoid therapy had been discontinued one month prior to admission. Serum anti-glomerular basement membrane antibodies were elevated, and a kidney biopsy revealed fibrinoid necrosis of the medium-sized renal arteries, tubulointerstitial nephritis, and collapsed glomeruli. An immunofluorescence study showed mild immunoglobulin G linear deposition. Polyarteritis nodosa was diagnosed based on the presence of fibrinoid necrosis in the medium-sized renal arteries. Glucocorticoid pulse therapy and plasmapheresis were initiated, but the patient died of alveolar hemorrhaging. This was a rare case of Goodpasture syndrome with polyarteritis nodosa.</p>","PeriodicalId":13719,"journal":{"name":"Internal Medicine","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143079671","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
A 78-year-old woman experienced systemic edema and was diagnosed with nephrotic syndrome and Hashimoto's thyroiditis (HT). A renal biopsy revealed minimal change disease (MCD) and tubulointerstitial nephritis, which resulted in the diagnosis of primary Sjögren's syndrome (PSS). PSS and HT can be complicated with MCD; however, there are no published case reports of MCD presenting with both conditions simultaneously. We aimed to inform nephrologists and rheumatologists about this rare condition through a literature review of renal outcomes in patients with MCD associated with PSS and HT.
{"title":"Simultaneous Presentation of Minimal Change Disease and Tubulointerstitial Nephritis Associated with Primary Sjögren's Syndrome and Hashimoto's Thyroiditis: A Case Report.","authors":"Tomohisa Tsuyuki, Mineaki Kitamura, Miho Takatani, Kiyokazu Tsuji, Kenta Torigoe, Sosuke Tsuji, Naruhiro Fujita, Yutaka Yamaguchi, Hiroshi Mukae, Tomoya Nishino","doi":"10.2169/internalmedicine.4747-24","DOIUrl":"https://doi.org/10.2169/internalmedicine.4747-24","url":null,"abstract":"<p><p>A 78-year-old woman experienced systemic edema and was diagnosed with nephrotic syndrome and Hashimoto's thyroiditis (HT). A renal biopsy revealed minimal change disease (MCD) and tubulointerstitial nephritis, which resulted in the diagnosis of primary Sjögren's syndrome (PSS). PSS and HT can be complicated with MCD; however, there are no published case reports of MCD presenting with both conditions simultaneously. We aimed to inform nephrologists and rheumatologists about this rare condition through a literature review of renal outcomes in patients with MCD associated with PSS and HT.</p>","PeriodicalId":13719,"journal":{"name":"Internal Medicine","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143079884","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
We herein report a 47-year-old man who presented with progressive paraparesis. Imaging revealed a right upper pulmonary nodule, massive bilateral adrenal metastases, thoracolumbar vertebral osteolysis, and subcutaneous nodules. A biopsy of the right buttock nodule revealed a poorly differentiated metastatic carcinoma with high programmed cell death-ligand 1 expression and extensive chromosomal rearrangements. The patient died 10 days after the initiation of pembrolizumab treatment. Autopsy findings confirmed pulmonary pleomorphic carcinoma with extensive metastases. Quantification of chromosomal rearrangements revealed a jump-up mutation from the normal karyotype, followed by a further incremental increase in the degree of deviation.
{"title":"Metastatic Pleomorphic Carcinoma of the Lung with Extensive Chromosomal Rearrangements: An Autopsy Case with a Literature Review.","authors":"Fukuko Matsumoto, Michiko Matsuzawa Adachi, Katsuyuki Yoshida, Takeshi Yamashita, Jun Shiihara, Takahiko Fukuchi, Haruka Morikawa, Masahiko Hiruta, Keisuke Tanno, Noriko Oyama-Manabe, Hisashi Oshiro, Hitoshi Sugawara","doi":"10.2169/internalmedicine.3478-24","DOIUrl":"10.2169/internalmedicine.3478-24","url":null,"abstract":"<p><p>We herein report a 47-year-old man who presented with progressive paraparesis. Imaging revealed a right upper pulmonary nodule, massive bilateral adrenal metastases, thoracolumbar vertebral osteolysis, and subcutaneous nodules. A biopsy of the right buttock nodule revealed a poorly differentiated metastatic carcinoma with high programmed cell death-ligand 1 expression and extensive chromosomal rearrangements. The patient died 10 days after the initiation of pembrolizumab treatment. Autopsy findings confirmed pulmonary pleomorphic carcinoma with extensive metastases. Quantification of chromosomal rearrangements revealed a jump-up mutation from the normal karyotype, followed by a further incremental increase in the degree of deviation.</p>","PeriodicalId":13719,"journal":{"name":"Internal Medicine","volume":" ","pages":"409-422"},"PeriodicalIF":1.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141497974","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Epidermal growth factor receptor (EGFR) tyrosine kinase inhibitors (TKIs) are highly effective against EGFR-mutant non-small-cell lung carcinoma but can cause serious adverse events, such as interstitial lung disease (ILD). Treatment strategies for osimertinib-induced ILD are not well established. Cytotoxic anticancer drugs are considered first, although several cases of successful rechallenge with EGFR-TKIs have been reported. We herein report a 67-year-old woman with symptomatic osimertinib-induced ILD who was switched to afatinib and later rechallenged with osimertinib and corticosteroids. Neither treatment resulted in ILD relapse, suggesting that these may be viable treatment options when alternative treatments are limited.
{"title":"Successful Switch to Afatinib and Osimertinib Rechallenge with Corticosteroids after Osimertinib-induced Interstitial Lung Disease: A Case Report and Literature Review.","authors":"Masaaki Yanai, Tomohiro Sakamoto, Naoki Uetani, Takafumi Nonaka, Tatsuya Nakada, Shuichi Matsuoka, Shiro Moriyama, Yasuhiko Teruya, Yoshihiro Funaki, Tomoya Harada, Naoki Kinoshita, Kosuke Yamaguchi, Masahiro Kodani, Akira Yamasaki","doi":"10.2169/internalmedicine.4877-24","DOIUrl":"https://doi.org/10.2169/internalmedicine.4877-24","url":null,"abstract":"<p><p>Epidermal growth factor receptor (EGFR) tyrosine kinase inhibitors (TKIs) are highly effective against EGFR-mutant non-small-cell lung carcinoma but can cause serious adverse events, such as interstitial lung disease (ILD). Treatment strategies for osimertinib-induced ILD are not well established. Cytotoxic anticancer drugs are considered first, although several cases of successful rechallenge with EGFR-TKIs have been reported. We herein report a 67-year-old woman with symptomatic osimertinib-induced ILD who was switched to afatinib and later rechallenged with osimertinib and corticosteroids. Neither treatment resulted in ILD relapse, suggesting that these may be viable treatment options when alternative treatments are limited.</p>","PeriodicalId":13719,"journal":{"name":"Internal Medicine","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143079890","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
We report the case of a 42-year-old man with bronchiectasis who had a history of infertility treatment for obstructive azoospermia. Young's syndrome was suspected based on the triad of obstructive azoospermia, sinusitis, and bronchiectasis. He had normal electron microscopy findings, normal nasal nitric oxide levels (116 nL/min), and no situs inversus. However, we found compound heterozygous variants considered pathogenic in CFAP221. This led to a diagnosis of primary ciliary dyskinesia (PCD). Distinguishing PCD from Young's syndrome in patients with the triad of obstructive azoospermia, sinusitis, and bronchiectasis is challenging. Young's syndrome may be a phenotype of PCD.
{"title":"Primary Ciliary Dyskinesia Due to Compound Heterozygous Variants in CFAP221 with Obstructive Azoospermia: Young's Syndrome May Be a Phenotype of Primary Ciliary Dyskinesia.","authors":"Masashi Ito, Kozo Morimoto, Masakazu Ohashi, Keiko Wakabayashi, Akiko Miyabayashi, Hiroyuki Yamada, Minako Hijikata, Naoto Keicho","doi":"10.2169/internalmedicine.3978-24","DOIUrl":"10.2169/internalmedicine.3978-24","url":null,"abstract":"<p><p>We report the case of a 42-year-old man with bronchiectasis who had a history of infertility treatment for obstructive azoospermia. Young's syndrome was suspected based on the triad of obstructive azoospermia, sinusitis, and bronchiectasis. He had normal electron microscopy findings, normal nasal nitric oxide levels (116 nL/min), and no situs inversus. However, we found compound heterozygous variants considered pathogenic in CFAP221. This led to a diagnosis of primary ciliary dyskinesia (PCD). Distinguishing PCD from Young's syndrome in patients with the triad of obstructive azoospermia, sinusitis, and bronchiectasis is challenging. Young's syndrome may be a phenotype of PCD.</p>","PeriodicalId":13719,"journal":{"name":"Internal Medicine","volume":" ","pages":"423-428"},"PeriodicalIF":1.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141497975","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Cryoballoon ablation has been established as an effective method for pulmonary vein isolation and has recently been investigated for its efficacy of substrate modification on the left atrial roof area in patients with persistent atrial fibrillation. We herein report the first successful case of left atrial posterior wall isolation including roof line ablation using cryoballoons in a patient with persistent atrial fibrillation, dextrocardia, and situs inversus. Cryoballoon ablation proved to be a safe and straightforward approach to create lasting lesions along the left atrial roof line and left atrial posterior wall, even under challenging anatomical conditions.
{"title":"Successful Left Atrial Posterior Wall Isolation Including Roof Line Ablation Using a Cryoballoon for Persistent Atrial Fibrillation with Dextrocardia and Situs Inversus.","authors":"Ryo Wada, Masaya Shinohara, Hideki Koike, Rine Nakanishi, Tadashi Fujino, Takanori Ikeda","doi":"10.2169/internalmedicine.3662-24","DOIUrl":"10.2169/internalmedicine.3662-24","url":null,"abstract":"<p><p>Cryoballoon ablation has been established as an effective method for pulmonary vein isolation and has recently been investigated for its efficacy of substrate modification on the left atrial roof area in patients with persistent atrial fibrillation. We herein report the first successful case of left atrial posterior wall isolation including roof line ablation using cryoballoons in a patient with persistent atrial fibrillation, dextrocardia, and situs inversus. Cryoballoon ablation proved to be a safe and straightforward approach to create lasting lesions along the left atrial roof line and left atrial posterior wall, even under challenging anatomical conditions.</p>","PeriodicalId":13719,"journal":{"name":"Internal Medicine","volume":" ","pages":"393-396"},"PeriodicalIF":1.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141497978","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Herein, we report a case of 72-year-old man who had L858R EGFR-mutated lung adenocarcinoma. Chest computed tomography revealed a large lung mass that had completely replaced the right upper lobe. Although the mass dramatically shrank after initiating chemotherapy, non-malignant pleural effusion appeared. Because diffuse pleural thickening and shrinking of the thoracic cage gradually became apparent, the patient was diagnosed with trapped lung. Despite the stabilization of his lung cancer, he experienced severe dyspnea and significant weight loss, ultimately leading to a decreased performance status. Chest physicians should recognize that trapped lung can develop as a sequela of dramatic tumor shrinkage in lung cancer.
{"title":"Trapped Lung as a Sequela of Dramatic Tumor Shrinkage of Lung Cancer.","authors":"Takashi Fukushima, Akimasa Sekine, Chieri Yamada, Kosumi Kumagai, Sanshiro Haga, Satoshi Ikeda, Tomohisa Baba, Eri Hagiwara, Shigeru Komatsu, Tae Iwasawa, Takashi Ogura","doi":"10.2169/internalmedicine.3704-24","DOIUrl":"10.2169/internalmedicine.3704-24","url":null,"abstract":"<p><p>Herein, we report a case of 72-year-old man who had L858R EGFR-mutated lung adenocarcinoma. Chest computed tomography revealed a large lung mass that had completely replaced the right upper lobe. Although the mass dramatically shrank after initiating chemotherapy, non-malignant pleural effusion appeared. Because diffuse pleural thickening and shrinking of the thoracic cage gradually became apparent, the patient was diagnosed with trapped lung. Despite the stabilization of his lung cancer, he experienced severe dyspnea and significant weight loss, ultimately leading to a decreased performance status. Chest physicians should recognize that trapped lung can develop as a sequela of dramatic tumor shrinkage in lung cancer.</p>","PeriodicalId":13719,"journal":{"name":"Internal Medicine","volume":" ","pages":"405-407"},"PeriodicalIF":1.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141497979","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-02-01Epub Date: 2024-07-25DOI: 10.2169/internalmedicine.4171-24
Kenya Kusunose
Artificial intelligence (AI) has shown transformative potential in various medical fields, including diagnostic imaging. Recent advances in AI-driven technologies have opened new avenues for improving echocardiographic practices. AI algorithms enhance the image quality, automate measurements, and assist in the diagnosis of cardiovascular diseases. These technologies reduce manual errors, increase consistency, and match the diagnostic performances of experienced echocardiographers. AI in tele-echocardiography offers significant benefits, particularly in rural and remote regions in Japan, where healthcare provider shortages and geographic isolation hinder access to advanced medical care. AI enhances accessibility, provides real-time remote analyses, supports continuous monitoring, and improves the quality and efficiency of remotely delivered cardiac care. However, addressing challenges related to data security, transparency, integration into clinical workflows, and ethical considerations is essential for the successful implementation of AI in echocardiography. On overcoming these challenges, AI will be able to revolutionize echocardiography and ensure timely and effective cardiac care for all patients in the future.
{"title":"Transforming Echocardiography: The Role of Artificial Intelligence in Enhancing Diagnostic Accuracy and Accessibility.","authors":"Kenya Kusunose","doi":"10.2169/internalmedicine.4171-24","DOIUrl":"10.2169/internalmedicine.4171-24","url":null,"abstract":"<p><p>Artificial intelligence (AI) has shown transformative potential in various medical fields, including diagnostic imaging. Recent advances in AI-driven technologies have opened new avenues for improving echocardiographic practices. AI algorithms enhance the image quality, automate measurements, and assist in the diagnosis of cardiovascular diseases. These technologies reduce manual errors, increase consistency, and match the diagnostic performances of experienced echocardiographers. AI in tele-echocardiography offers significant benefits, particularly in rural and remote regions in Japan, where healthcare provider shortages and geographic isolation hinder access to advanced medical care. AI enhances accessibility, provides real-time remote analyses, supports continuous monitoring, and improves the quality and efficiency of remotely delivered cardiac care. However, addressing challenges related to data security, transparency, integration into clinical workflows, and ethical considerations is essential for the successful implementation of AI in echocardiography. On overcoming these challenges, AI will be able to revolutionize echocardiography and ensure timely and effective cardiac care for all patients in the future.</p>","PeriodicalId":13719,"journal":{"name":"Internal Medicine","volume":" ","pages":"331-336"},"PeriodicalIF":1.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141758564","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
A 64-year-old woman presented with agranulocytosis, anemia, and bacteremia, leading to a diagnosis of T-cell large granular lymphocytic leukemia (T-LGLL). A molecular analysis identified a signal transducer and activator of transcription 3 (STAT3) Y640F variant. Initial treatment with cyclophosphamide and prednisolone did not improve her condition, but serious infections were observed. The patient underwent cord blood transplantation (CBT) after preconditioning with fludarabine, busulfan, and total body irradiation, yielding a STAT3 Y640F variant disappearance, based on allele-specific quantitative polymerase chain reaction (AS-qPCR). In this case, CBT is a promising refractory T-LGLL treatment option, and the STAT3 Y640F variant AS-qPCR is a T-LGLL activity marker.
{"title":"T-cell Large Granular Lymphocytic Leukemia with a STAT3 Mutation Successfully Treated with Cord Blood Transplantation.","authors":"Yoshihiro Tokunaga, Yukinori Nakamura, Taishi Ando, Kensaku Katsuki, Kohei Sakai, Yuka Fujioka, Shota Nono, Takahiro Sasaki, Kaoru Yamamoto, Masaru Akiyama, Fumihiro Kawakami, Toru Kawakami, Fumihiro Ishida, Yasuharu Ohta, Toshiaki Yujiri","doi":"10.2169/internalmedicine.4076-24","DOIUrl":"10.2169/internalmedicine.4076-24","url":null,"abstract":"<p><p>A 64-year-old woman presented with agranulocytosis, anemia, and bacteremia, leading to a diagnosis of T-cell large granular lymphocytic leukemia (T-LGLL). A molecular analysis identified a signal transducer and activator of transcription 3 (STAT3) Y640F variant. Initial treatment with cyclophosphamide and prednisolone did not improve her condition, but serious infections were observed. The patient underwent cord blood transplantation (CBT) after preconditioning with fludarabine, busulfan, and total body irradiation, yielding a STAT3 Y640F variant disappearance, based on allele-specific quantitative polymerase chain reaction (AS-qPCR). In this case, CBT is a promising refractory T-LGLL treatment option, and the STAT3 Y640F variant AS-qPCR is a T-LGLL activity marker.</p>","PeriodicalId":13719,"journal":{"name":"Internal Medicine","volume":" ","pages":"449-454"},"PeriodicalIF":1.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142092848","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}