Internal MedicinePub Date : 2025-01-15Epub Date: 2024-05-30DOI: 10.2169/internalmedicine.3676-24
Ryo Ueda, Clara So, Kohei Okafuji, Torahiko Jinta
{"title":"Recurrent Syncope Due to a Giant Hepatic Cyst.","authors":"Ryo Ueda, Clara So, Kohei Okafuji, Torahiko Jinta","doi":"10.2169/internalmedicine.3676-24","DOIUrl":"10.2169/internalmedicine.3676-24","url":null,"abstract":"","PeriodicalId":13719,"journal":{"name":"Internal Medicine","volume":" ","pages":"313-314"},"PeriodicalIF":1.0,"publicationDate":"2025-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141175628","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":"Repeated Ischemic Stroke due to in situ Thrombus at the Middle Cerebral Artery in a Patient with Essential Thrombocythemia.","authors":"Toru Nakagami, Yuji Kato, Kaito Watanabe, Ryutaro Kimura, Tsugumi Sato, Takeshi Hayashi, Satoshi Suda","doi":"10.2169/internalmedicine.3590-24","DOIUrl":"10.2169/internalmedicine.3590-24","url":null,"abstract":"<p><p>Essential thrombocythemia (ET) is a myeloproliferative neoplasm that is a rare cause of ischemic stroke. We herein report a 70-year-old man with JAK2 V617F mutation-positive ET who experienced ischemic stroke twice in 1 month due to transient stenosis. In both events, transient stenosis formed at the same curvature of the right middle cerebral artery, and the thrombus disappeared with the initiation of antiplatelet agents. The formation of in situ thrombus at the curvature of the intracranial vessels may be a unique characteristic of JAK2 V617F mutation-positive ET patients.</p>","PeriodicalId":13719,"journal":{"name":"Internal Medicine","volume":" ","pages":"281-285"},"PeriodicalIF":1.0,"publicationDate":"2025-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141175662","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":"Response to: Calpainopathy Can Manifest Itself in Not Only Skeletal Muscle but Also the Brain and Myocardium.","authors":"Shogo Komaki, Akatsuki Kubota, Kazuto Katsuse, Asuka Kitamura, Meiko Maeda, Takashi Matsukawa, Nobuyuki Eura, Yoshihiko Saito, Ichizo Nishino, Tatsushi Toda","doi":"10.2169/internalmedicine.3974-24","DOIUrl":"10.2169/internalmedicine.3974-24","url":null,"abstract":"","PeriodicalId":13719,"journal":{"name":"Internal Medicine","volume":" ","pages":"329"},"PeriodicalIF":1.0,"publicationDate":"2025-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141175664","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 Novel Heterozygous and Pathogenic Variant of the HNF1B Gene Associated with Autosomal Dominant Tubulointerstitial Kidney Disease with a Broad Spectrum of Extrarenal Phenotypes: A Case Report.","authors":"Jun-Ya Kaimori, Jun Matsuda, Asif Jan, Yuki Kawano, Takayuki Kawaoka, Yuta Asahina, Yohei Doi, Tatsufumi Oka, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Toshihiro Asano, Yusuke Sakaguchi, Yoshitaka Isaka","doi":"10.2169/internalmedicine.4548-24","DOIUrl":"https://doi.org/10.2169/internalmedicine.4548-24","url":null,"abstract":"<p><p>We encountered a family with hereditary renal failure, renal medullary cysts, pancreatic hypoplasia, hypomagnesemia, liver enzyme abnormalities, and diabetes mellitus (DM). We identified a novel heterozygous variant of HNF1B (NM_000458.4:c.791dup, p.L264Ffs*30) using whole-exome sequencing of genomic DNA samples from this family. This variant is located in the DNA-binding domain of the HNF1B protein and produces a truncated protein with a de novo sequence, suggesting that this variant changes HNF1B binding to genomic DNA or causes nonsense-mediated mRNA decay. Based on the phenotypes and identified gene variants, this family suffers from autosomal dominant tubulointerstitial kidney disease caused by this HNF1B variant.</p>","PeriodicalId":13719,"journal":{"name":"Internal Medicine","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2025-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143004747","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":"Chronic Hepatitis B in Which HBs Antigen Seroclearance Was Induced by Pegpegylated-interferonα-2a after Hepatocellular Carcinoma Treatment with Nucleos(t)ide Analogues: A Five-year Follow-up.","authors":"Shima Mimura, Masafumi Ono, Koji Fujita, Kei Takuma, Mai Nakahara, Kyoko Oura, Tomoko Tadokoro, Joji Tani, Asahiro Morishita, Seiko Kagawa, Keiichi Okano, Takashi Himoto, Tsutomu Masaki","doi":"10.2169/internalmedicine.3643-24","DOIUrl":"10.2169/internalmedicine.3643-24","url":null,"abstract":"<p><p>We herein report a 40-year-old Japanese man with chronic hepatitis B genotype C (viral load 6.7 Log copies/mL) who developed hepatocellular carcinoma (HCC) despite achieving undetectable hepatitis B virus (HBV)-DNA levels with nucleos(t)ide analog (NA) treatment (entecavir). Notably, his hepatitis B surface antigen (HBsAg) level remained elevated at 388.4 IU/mL. Given the continued risk of carcinogenesis associated with HBsAg positivity, we initiated pegylated interferon (PEG-IFN) therapy one month after HCC surgery. Following three periods of PEG-IFN treatment, HBsAg seroclearance (HBsAg-negative state) was achieved.</p>","PeriodicalId":13719,"journal":{"name":"Internal Medicine","volume":" ","pages":"225-229"},"PeriodicalIF":1.0,"publicationDate":"2025-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141175650","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":"Aortic Intimal Sarcoma Diagnosed by Surgical Resection: A Case Report.","authors":"Yuki Horiguchi, Kazuya Nishii, Keisuke Shiraha, Taisaku Koyanagi, Takahiro Umeno, Tomoki Tamura, Shoichi Kuyama","doi":"10.2169/internalmedicine.4651-24","DOIUrl":"https://doi.org/10.2169/internalmedicine.4651-24","url":null,"abstract":"<p><p>Aortic intimal sarcoma is a rare disease with no established treatment and a poor prognosis. A 70-year-old man who underwent surgery for a mass shadow extending from the ascending aorta to the left common carotid artery on contrast-enhanced computed tomography was diagnosed with intimal sarcoma and underwent postoperative radiotherapy (66 Gy/33 Fr). Three brain metastases were identified after 1.5 months. No recurrence or enlargement was noted for four months following gamma knife radiosurgery and chemotherapy. To our knowledge, this is the first report of gamma knife radiosurgery delaying the progression of aortic intimal sarcoma.</p>","PeriodicalId":13719,"journal":{"name":"Internal Medicine","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2025-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143004786","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 Case of Severe Hypocalcemia During JAK1/2 Inhibitor Therapy for Myelofibrosis in a Patient with Liver Cirrhosis.","authors":"Mayuna Kurumazaki, Noriko Ogawa, Mariko Kobayashi, Fumiyoshi Ikejiri, Keizo Kanasaki","doi":"10.2169/internalmedicine.4723-24","DOIUrl":"https://doi.org/10.2169/internalmedicine.4723-24","url":null,"abstract":"<p><p>We herein report a 56-year-old man with severe hypocalcemia during ruxolitinib therapy for myelofibrosis transitioning from JAK2 mutation-positive polycythemia vera. Blood transfusions were administered every one to two weeks for ruxolitinib-induced anemia. Blood tests revealed hypocalcemia with low TRACP-5b, 25-hydroxyvitamin D (25 (OH) D), and 1,25-dihydroxyvitamin D<sub>3</sub> (1,25 (OH) <sub>2</sub> D<sub>3</sub>) levels within the lower reference range. Intact-PTH levels were relatively low compared to calcium levels. Severe hypocalcemia with ruxolitinib is rare and may be caused by a combination of factors, impaired vitamin D activation due to liver or renal insufficiency, accumulation of calcium-chelating agents from blood transfusions, and inadequate compensatory response to PTH.</p>","PeriodicalId":13719,"journal":{"name":"Internal Medicine","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2025-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143004745","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":"Recent Advances and New Therapeutic Goals in the Management of Severe Asthma.","authors":"Tomoya Harada, Genki Inui, Miki Takata, Ryota Okazaki, Kosuke Yamaguchi, Akira Yamasaki","doi":"10.2169/internalmedicine.5004-24","DOIUrl":"https://doi.org/10.2169/internalmedicine.5004-24","url":null,"abstract":"<p><p>Asthma is characterized by chronic airway inflammation as its primary pathological condition, which leads to various respiratory symptoms due to airway narrowing, with type 2 inflammation playing a central role. Asthma treatment, primarily centered on inhaled corticosteroids, aims to suppress type 2 inflammation and improve airway narrowing. However, severe asthma that cannot be controlled with high-dose inhaled corticosteroids or other asthma medications remains a clinical issue. The availability of multiple biological agents has recently improved the management of severe asthma. In addition, the concept of clinical remission has emerged as a treatment goal, further clarifying the objectives of asthma management. However, despite these advancements, the treatment of severe asthma driven primarily by non-type 2 inflammation remains a major challenge, and new biologics are currently being developed to address this issue.</p>","PeriodicalId":13719,"journal":{"name":"Internal Medicine","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2025-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143004849","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 : 2025-01-15DOI: 10.2169/internalmedicine.4737-24
Suzuka Matsuoka, Kenichiro Kudo, Mayu Goda, Tomoyoshi Inoue, Toki Kitano, Yuto Sasano, Keiichi Fujiwara
{"title":"Case of Life-threating Asthma Exacerbation Successfully Treated with Benralizumab.","authors":"Suzuka Matsuoka, Kenichiro Kudo, Mayu Goda, Tomoyoshi Inoue, Toki Kitano, Yuto Sasano, Keiichi Fujiwara","doi":"10.2169/internalmedicine.4737-24","DOIUrl":"https://doi.org/10.2169/internalmedicine.4737-24","url":null,"abstract":"<p><p>A 52-year-old Japanese man with a history of childhood asthma presented at our emergency department with progressive dyspnea. Despite subcutaneous adrenaline injections, salbutamol nebulization, and intravenous methylprednisolone, the carbon dioxide partial pressure (pCO<sub>2</sub>) increased to 110 mmHg. The patient was intubated, and mechanical ventilation was initiated because of severe respiratory failure. Severe bronchospasm frequently occurs despite appropriate treatment. Therefore, we decided to administer biologics. After the administration of a single dose of benralizumab, his respiratory condition improved, with normalization of pCO<sub>2</sub>, tidal volume, and airway resistance. We successfully extubated the patient two days after the administration of benralizumab.</p>","PeriodicalId":13719,"journal":{"name":"Internal Medicine","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2025-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143004798","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":"Erdheim-Chester Disease with Pancreatic Enlargement Observed Using Contrast-enhanced Endoscopic Ultrasonography.","authors":"Akihiro Maruyama, Takahiro Nishikawa, Asuka Nagura, Takuya Kurobe, Jun Yashika, Yuho Nimura, Raimei Ko, Tomohiro Yamaguchi, Kazuki Saito, Kazuhiro Yoshida, Iori Kojima, Koji Nonogaki","doi":"10.2169/internalmedicine.3864-24","DOIUrl":"10.2169/internalmedicine.3864-24","url":null,"abstract":"<p><p>We herein report an unusual case of Erdheim-Chester disease (ECD), a rare non-Langerhans cell histiocytosis, and emphasize its unique presentation and diagnostic challenges. Our patient exhibited uncommon symptoms and significant organ involvement, particularly pancreatic enlargement that is not typically associated with ECD. Contrast-enhanced harmonic endoscopic ultrasonography (CEH-EUS) and EUS-fine needle aspiration (EUS-FNA) play crucial roles in the comprehensive assessment of the disease, demonstrating their superiority in identifying and characterizing elusive ECD lesions. This is the first report to document pancreatic lesions in patients with ECD evaluated using CEH-EUS. EUS-FNA is valuable for diagnosing rare diseases, including ECD, with diffuse pancreatic enlargement.</p>","PeriodicalId":13719,"journal":{"name":"Internal Medicine","volume":" ","pages":"231-236"},"PeriodicalIF":1.0,"publicationDate":"2025-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141175622","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}