{"title":"A Case of Multiple Myeloma in a Patient with Birt-Hogg-Dube Syndrome.","authors":"Fumiaki Matsumura, Tatsuhiro Sakamoto, Hirayasu Kai, Toshiaki Usui, Kunio Kawanishi, Ryota Matsuoka, Kantaro Ishitsuka, Kenichi Makishima, Sakurako Suma, Yumiko Maruyama, Takayasu Kato, Naoki Kurita, Keiichiro Hattori, Yasuhito Suehara, Hidekazu Nishikii, Naoshi Obara, Joichi Usui, Daisuke Matsubara, Kunihiro Yamagata, Mamiko Sakata-Yanagimoto","doi":"10.2169/internalmedicine.4985-24","DOIUrl":"https://doi.org/10.2169/internalmedicine.4985-24","url":null,"abstract":"<p><p>Birt-Hogg-Dubé syndrome (BHDS) is an autosomal dominant disease caused by germline folliculin (FLCN) mutations and it is characterized by skin folliculomas, pulmonary cysts, and renal cell carcinomas (RCC). We herein report the first case of a female patient with BHDS who was diagnosed with multiple myeloma. Daratumumab-based treatment was effective, and the patient remained responsive for over three years. Whole-exome sequencing confirmed an FLCN germline mutation and nine somatic mutations, including an MPDZ mutation, which is a component of the tumor-suppressive Hippo-YAP pathway. Considering the reported association between the Hippo-YAP pathway and RCC with BHDS, an MPDZ mutation may contribute to carcinogenesis in patients with BHDS.</p>","PeriodicalId":13719,"journal":{"name":"Internal Medicine","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2025-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143639633","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}
Internal MedicinePub Date : 2025-03-15Epub Date: 2024-08-28DOI: 10.2169/internalmedicine.3837-24
Yoshihiro Kobashi, Satoshi Mitarai, Toru Oga
{"title":"Pulmonary Mycobacterium heckeshornense Infection in which the Causative Microorganism Was Difficult to Identify.","authors":"Yoshihiro Kobashi, Satoshi Mitarai, Toru Oga","doi":"10.2169/internalmedicine.3837-24","DOIUrl":"10.2169/internalmedicine.3837-24","url":null,"abstract":"<p><p>A 44-year-old woman underwent a follow-up examination for Crohn's disease 9 years ago. Chest computed tomography (CT) showed an infiltration shadow with a cavity in the right upper lobe. After a CT-guided lung biopsy, epitheloid granuloma was noted, and an acid-fast bacilli examination was smear-positive, but a culture examination was negative. Because the abnormal chest shadow with cavity gradually increased and right shoulder pain appeared, we performed bronchoscopy again six months later. Mycobacterium heckeshornense was isolated from the bronchoalveolar lavage fluid specimen, so we diagnosed her with pulmonary M. heckeshornense disease. Isoniazid, rifampicin, and ethambutol were administered, and the abnormal chest shadow improved.</p>","PeriodicalId":13719,"journal":{"name":"Internal Medicine","volume":" ","pages":"911-915"},"PeriodicalIF":1.0,"publicationDate":"2025-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142092836","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}
{"title":"Effect of Biologics against Interleukin-5 Administered to Patients with Eosinophilic Gastroenteritis<sup>1</sup>.","authors":"Kazuya Miyaguchi, Hisashi Matsumoto, Rie Shiomi, Hiroshi Yamaguchi, Yoshikazu Tsuzuki, Hiroyuki Imaeda","doi":"10.2169/internalmedicine.5029-24","DOIUrl":"https://doi.org/10.2169/internalmedicine.5029-24","url":null,"abstract":"<p><p>Biologics against interleukin-5 were administered to five patients with eosinophilic gastroenteritis (EGE) and bronchial asthma (BA). BA and abdominal symptoms as well as changes in steroid dose and the blood eosinophil count were examined. The man-to-woman ratio was 1:4. The average age of onset was 63 years old. The duration of the disease was three to nine years. Four patients showed improved BA symptoms with mepolizumab or benralizumab, and three successfully discontinued steroids. Regarding abdominal symptoms, mepolizumab was effective in one of three cases, while benralizumab improved symptoms in three of four cases. Biologics targeting interleukin-5 are effective in some patients with EGE accompanied by BA.</p>","PeriodicalId":13719,"journal":{"name":"Internal Medicine","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2025-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143639602","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}
{"title":"Danon Disease Presenting with Slowly Progressive Cardiomyopathy and Harboring a Novel Missense Variant in the Lysosome-associated Membrane Protein Type 2 (LAMP-2) Gene.","authors":"Yoichiro Nakagawa, Kenshi Hayashi, Takayasu Tada, Miwako Asakawa, Shohei Yoshida, Akihiro Nomura, Kenji Miwa, Hiroshi Furusho, Masayuki Takamura, Toshihiko Yasuda","doi":"10.2169/internalmedicine.3953-24","DOIUrl":"10.2169/internalmedicine.3953-24","url":null,"abstract":"<p><p>Danon disease (DD) is a rare lysosomal storage disorder resulting from pathogenic variants of the lysosome-associated membrane protein type 2 (LAMP-2) gene. The disease is characterized by severe cardiomyopathy, which rapidly progresses to end-stage heart failure. This case, with DD caused by a missense variant, exhibited slow progressive cardiomyopathy and survived for an extended period despite being a male. A pathological analysis revealed that only a minority of the samples exhibited autophagic vacuoles with unique sarcolemmal features, which are typical of DD. Importantly, LAMP-2 expression was absent and the myocardial tissue contained a substantial amount of p62-positive aggregates.</p>","PeriodicalId":13719,"journal":{"name":"Internal Medicine","volume":" ","pages":"857-863"},"PeriodicalIF":1.0,"publicationDate":"2025-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141901640","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}
{"title":"Immunoglobulin A Nephropathy in a Kidney Transplant Recipient with Kabuki Syndrome: A Case Report.","authors":"Takahiro Shinzato, Kojiro Nagai, Yuuki Hoshino, Yuuichi Fujiwara, Yoshihiro Yamamoto, Azusa Morishita, Takao Okawa, Kenta Ito, Masaaki Murakami, Ken Matsuo, Satoshi Tanaka, Kiyoshi Mori","doi":"10.2169/internalmedicine.4832-24","DOIUrl":"https://doi.org/10.2169/internalmedicine.4832-24","url":null,"abstract":"<p><p>Kabuki syndrome is a rare genetic disorder that causes multiple congenital anomalies, including characteristic facial features reminiscent of Kabuki syndrome. It is often associated with congenital anomalies of the kidneys and urinary tract as well as immune abnormalities. While various autoimmune diseases have been reported in patients with this syndrome, only one case of membranoproliferative glomerulonephritis has been documented. We herein report a case of Kabuki syndrome in which immunoglobulin A nephropathy developed in a renal allograft, which subsequently improved with the administration of pulse steroids and an angiotensin II receptor blocker.</p>","PeriodicalId":13719,"journal":{"name":"Internal Medicine","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2025-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143639605","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}
{"title":"A Severe Case of Rhabdomyolysis Requiring Renal Replacement Therapy Following COVID-19 mRNA Vaccination.","authors":"Motohiro Ueda, Kohei Uchimura, Kie Ohkoshi, Natsumi Saegusa, Keiichi Osano, Shun Yoshida, Makiko Konishi, Toshihisa Ishii, Kazuya Takahashi, Ayumu Nakashima","doi":"10.2169/internalmedicine.4835-24","DOIUrl":"https://doi.org/10.2169/internalmedicine.4835-24","url":null,"abstract":"<p><p>A 60-year-old man who developed rhabdomyolysis and severe acute kidney injury (AKI) after the fourth COVID-19 mRNA vaccination, necessitating renal replacement therapy (RRT). The patient presented to the hospital two days post-vaccination with muscle pain in both lower extremities and anuria. Diagnostic tests revealed elevated creatinine kinase (CK) levels of 160,000 IU/L and serum creatinine levels of 6.59 mg/dL, confirming AKI due to rhabdomyolysis. Intravenous therapy was ineffective, leading to the utilization of online hemodiafiltration. Following treatment, CK levels normalized, and the renal function fully recovered.</p>","PeriodicalId":13719,"journal":{"name":"Internal Medicine","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2025-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143639639","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}
{"title":"Bony Stroke Involving a Vertebral Artery Detected by Dynamic Three-dimensional Computed Tomography Angiography.","authors":"Reona Miwa, Mikito Saito, Hiroyuki Kawano, Yuko Honda, Miho Gomyo, Teruyuki Hirano","doi":"10.2169/internalmedicine.4141-24","DOIUrl":"10.2169/internalmedicine.4141-24","url":null,"abstract":"<p><p>When an ischemic stroke occurs due to bone or cartilage dynamically affecting vessels supplying the brain, it is called bony stroke. We herein report a patient with recurrent cryptogenic stroke that was thought to be a bony stroke. Dynamic three-dimensional computed tomography angiography revealed mechanical compression of the vertebral artery by the hyoid bone and thyroid cartilage. The patient had a recurrent stroke during antiplatelet therapy. Surgical removal of bone tissue prevents stroke recurrence.</p>","PeriodicalId":13719,"journal":{"name":"Internal Medicine","volume":" ","pages":"921-923"},"PeriodicalIF":1.0,"publicationDate":"2025-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141901636","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}
{"title":"Usefulness of Repeated Lusutrombopag Administration in Clinical Practice and its Correlation with the Simulation Software-Predicted Platelet Count: A Multicenter Study.","authors":"Takushi Manabe, Chikara Ogawa, Takashi Tamada, Naoki Yoshioka, Takehiro Akahane, Hideki Fujii, Hirotaka Arai, Kei Takuma, Mai Nakahara, Kyoko Oura, Tomoko Tadokoro, Koji Fujita, Joji Tani, Asahiro Morishita, Hideki Kobara, Shinichiro Nakamura, Hironori Ochi, Shintaro Takaki, Nami Mori, Keiji Tsuji, Masayuki Kurosaki, Namiki Izumi","doi":"10.2169/internalmedicine.4822-24","DOIUrl":"https://doi.org/10.2169/internalmedicine.4822-24","url":null,"abstract":"<p><p>Objective Lusutrombopag is recommended for severe thrombocytopenia (<5.0×10<sup>4</sup>/μL) in patients with chronic liver disease who are scheduled to undergo invasive procedures. However, reports on the efficacy of repeated lusutrombopag dosing are scarce. It is also not known whether lusutrombopag causes the platelet count to exceed 5.0×10<sup>4</sup>/μL. We evaluated the efficacy of repeated lusutrombopag dosing and the efficacy of the platelet prediction simulation software program. Methods We evaluated the number of platelet elevations according to the number of lusutrombopag administrations. We also evaluated the correlation between the highest software-predicted platelet count and the platelet count measured in actual clinical practice. Patients This retrospective study included 236 patients treated with lusutrombopag at 11 medical institutions in Japan. Results The platelet count increased with the number of lusutrombopag administrations (1, 2, 3, 4, >4) in all groups, and no significant difference was found among the groups (p = 0.169). In all groups, the platelet counts reached their highest levels at 8-14 days after treatment with lusutrombopag (p = 0.243). There was a correlation between the highest software-predicted platelet count and the platelet count measured in actual clinical practice in all dose frequency groups; however, the correlation was the strongest in the one-dose group (r = 0.74, p <0.0001). Conclusion Frequent lusutrombopag administration is therefore both effective and safe, and a platelet prediction simulation software program is thus considered to be useful in practice.</p>","PeriodicalId":13719,"journal":{"name":"Internal Medicine","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2025-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143639713","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}
Internal MedicinePub Date : 2025-03-15Epub Date: 2025-01-03DOI: 10.2169/internalmedicine.4677-24
Kanji Nobata, Yuta Ueki, Yusuke Namba, Yusuke Kawai
{"title":"Successful Management of Systemic Capillary Leak Syndrome Secondary to Coronavirus Disease 2019 Mimicking the Course of Fulminant Myocarditis by Venous-arterial Extracorporeal Membrane Oxygenation.","authors":"Kanji Nobata, Yuta Ueki, Yusuke Namba, Yusuke Kawai","doi":"10.2169/internalmedicine.4677-24","DOIUrl":"10.2169/internalmedicine.4677-24","url":null,"abstract":"<p><p>We herein report a case of systemic capillary leak syndrome (SCLS) attributed to coronavirus disease (COVID-19) that emerged in 2019. A 56-year-old woman presented with a COVID-19 infection 7 days prior to the visit with upper respiratory symptoms, fatigue, and decreased appetite. Secondary SCLS due to COVID-19 was diagnosed, veno-arterial extracorporeal membrane oxygenation (VA-ECMO) was initiated as mechanical support, and intravenous immunoglobulin was administered, marking the transition to the recovery phase with the initiation of fluid resuscitation. This case is noteworthy for successfully employing VA-ECMO in treating secondary SCLS due to COVID-19, mimicking the course of fulminant myocarditis.</p>","PeriodicalId":13719,"journal":{"name":"Internal Medicine","volume":" ","pages":"865-869"},"PeriodicalIF":1.0,"publicationDate":"2025-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142931757","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}