{"title":"Pathogenic TNFRSF13B Variant in an Adult Japanese Patient with Common Variable Immunodeficiency.","authors":"Naokazu Nakamura, Ryo Ikunari, Yasuhiro Tanaka, Hiroko Tsunemine, June Takeda, Nobuyoshi Arima","doi":"10.2169/internalmedicine.4057-24","DOIUrl":"10.2169/internalmedicine.4057-24","url":null,"abstract":"<p><p>Common variable immunodeficiency (CVID) is a primary B cell immunodeficiency disorder. Symptoms do not develop immediately after birth, and patients are often diagnosed in childhood and adulthood. These patients often develop autoimmune diseases and malignant tumors. We herein report a 50-year-old woman with severe hypogammaglobulinemia and recurrent respiratory tract infections who was diagnosed with CVID. Target sequencing showed a TNFRSF13B heterozygous frameshift variant. The patient had many comorbidities, probably caused by a CVID-induced immune imbalance. Physicians who treat adult patients are often unaware of CVID. CVID should be recognized as a differential diagnosis in hypogammaglobulinemia and recurrent infections.</p>","PeriodicalId":13719,"journal":{"name":"Internal Medicine","volume":" ","pages":"753-757"},"PeriodicalIF":1.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141579578","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":"Spinal Dural Arteriovenous Fistulas in a Patient with Cowden Syndrome and a Phosphatase and Tensin Homolog Mutation.","authors":"Atsuhito Fuse, Jiro Fukae, Asuka Nakajima, Takashi Mitsuhashi, Ami Kurita, Kohsuke Teranishi, Masami Arai, Yasushi Shimo, Nobutaka Hattori","doi":"10.2169/internalmedicine.3809-24","DOIUrl":"10.2169/internalmedicine.3809-24","url":null,"abstract":"<p><p>Cowden syndrome (CS) is an autosomal dominant syndrome characterized by the development of hamartomas and an increased cancer risk. Most CS patients harbor mutations in the phosphatase and tensin homolog (PTEN) gene. We herein report a 70-year-old patient with CS who presented with lower extremity weakness caused by multiple thoracic dural arteriovenous fistulas (AVFs). Genetic testing revealed a truncated PTEN mutation (c.485_487delACAinsCC and p.D162Afs*5). Vascular malformations are common in CS, particularly in the extremities. However, spinal dural AVFs are extremely rare. Furthermore, in our case, the number of AVFs increased, and both lower limbs became flaccid four months after embolization. Therefore, we suggest that physicians carefully observe the changes in symptoms for prolonged periods after embolization.</p>","PeriodicalId":13719,"journal":{"name":"Internal Medicine","volume":" ","pages":"763-767"},"PeriodicalIF":1.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141758562","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":"Eosinophilic Gastroenteritis with Ascites, Elevated Serum IgG4, and Hypereosinophilic Syndrome: A Manifestation of IgG4-related Disease?","authors":"Takao Nagashima, Hiroki Yabe, Naota Okabe, Tsuyoshi Kobashigawa","doi":"10.2169/internalmedicine.3769-24","DOIUrl":"10.2169/internalmedicine.3769-24","url":null,"abstract":"<p><p>A 76-year-old woman with persistent diarrhea was referred to our hospital. She had purpura, peripheral eosinophilia (18,177/μL), and an elevated serum IgG4 level (819 mg/dL). Abdominal computed tomography revealed massive ascites and bowel edema. A skin biopsy of the purpura revealed leukocytoclastic vasculitis with prominent eosinophilic infiltration. Biopsies of the gastrointestinal mucosa revealed dense eosinophilic infiltration, indicating eosinophilic gastroenteritis (EG) associated with the hypereosinophilic syndrome. The number of IgG4-positive cells increased in the duodenal mucosa; however, the diagnostic criteria for IgG4-related disease (IgG4-RD) were not met. Whether or not EG with ascites is a manifestation of IgG4-RD warrants further investigation.</p>","PeriodicalId":13719,"journal":{"name":"Internal Medicine","volume":" ","pages":"699-704"},"PeriodicalIF":1.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141859658","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":"Prognostic Factors of In-hospital Mortality in Patients without Human Immunodeficiency Virus Infection with Pneumocystis Pneumonia: A Retrospective Cohort Study.","authors":"Jumpei Taniguchi, Shotaro Aso, Taisuke Jo, Hiroki Matsui, Kiyohide Fushimi, Hideo Yasunaga","doi":"10.2169/internalmedicine.4090-24","DOIUrl":"10.2169/internalmedicine.4090-24","url":null,"abstract":"<p><p>Objective This study explored the prognostic factors of in-hospital mortality in patients with Pneumocystis pneumonia (PCP) without human immunodeficiency virus (HIV) infection, using a Japanese nationwide inpatient database. Methods We extracted the data of patients with PCP without HIV infection between July 2010 and March 2022 from the Diagnosis Procedure Combination database. We performed multivariable logistic regression analyses to identify the prognostic factors of in-hospital mortality in with PCP without HIV infection. Results We identified 1,704 patients with PCP without HIV infection and 404 (23.7%) in-hospital deaths. Higher in-hospital mortality was associated with advanced age, male sex [odds ratio (OR), 1.45; 95% confidence interval (CI), 1.06-2.00], a low Barthel index score, non-hematological malignancy (OR, 1.81; 95% CI, 1.22-2.70), receipt of mechanical ventilation (OR, 2.49; 95% CI, 1.47-4.21), and administration of antibiotics (OR, 1.52; 95% CI, 1.12-2.06) and antifungal drugs (OR, 1.83; 95% CI, 1.26-2.67). Lower in-hospital mortality was associated with connective tissue disease and vasculitis (OR, 0.55; 95% CI, 0.37-0.81), hematological malignancy (OR, 0.59; 95% CI, 0.38-0.93), and early trimethoprim-sulfamethoxazole treatment (OR, 0.63; 95% CI, 0.44-0.90). Conclusion These findings will help physicians identify patients who may benefit from early aggressive therapeutic interventions.</p>","PeriodicalId":13719,"journal":{"name":"Internal Medicine","volume":" ","pages":"651-657"},"PeriodicalIF":1.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141859661","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":"Requirement of Repeated Serum VEGF Measurements in POEMS Syndrome.","authors":"Taichi Nomura, Ikuko Iwata, Katsuki Eguchi, Shintaro Fujii, Takashi Inoue, Monami Tarisawa, Takashi Ishio, Yuichiro Toyama, Hisashi Uwatoko, Shinichi Shirai, Masaaki Matsushima, Hiroaki Yaguchi, Ichiro Yabe","doi":"10.2169/internalmedicine.4086-24","DOIUrl":"10.2169/internalmedicine.4086-24","url":null,"abstract":"<p><p>POEMS syndrome is often associated with a poor prognosis. Elevated serum vascular endothelial growth factor (sVEGF) is a useful diagnostic marker with high sensitivity and specificity. However, the relationship between sVEGF elevation and polyneuropathy in POEMS syndrome remains controversial. We herein report a case of polyneuropathy without sVEGF elevation at the first admission. However, at 21 months after the onset, the patient tested positive for sVEGF and was diagnosed with POEMS syndrome. Therefore, it is important to repeatedly measure sVEGF levels in patients with polyneuropathy with an atypical course when POEMS syndrome is suspected, even if the initial sVEGF level is normal.</p>","PeriodicalId":13719,"journal":{"name":"Internal Medicine","volume":" ","pages":"769-773"},"PeriodicalIF":1.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141859662","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":"Circulating Angiopoietin-like Protein 6 Levels and Clinical Features in Patients with Type 2 Diabetes.","authors":"Kohzo Takebayashi, Tatsuhiko Suzuki, Mototaka Yamauchi, Kenji Hara, Takafumi Tsuchiya, Toshihiko Inukai, Koshi Hashimoto","doi":"10.2169/internalmedicine.3609-24","DOIUrl":"10.2169/internalmedicine.3609-24","url":null,"abstract":"<p><p>Objective The main purpose of this study was to evaluate the associations between circulating angiopoietin-like protein 6 (ANGPTL6) levels and various diabetes- and atherosclerosis-related variables in patients with type 2 diabetes. Methods Serum ANGPTL6 levels in patients with type 2 diabetes hospitalized for glycemic control and/or diabetic education were measured using a chemiluminescent immunoassay. Results Most patients had elevated hemoglobin (Hb) A1c levels; 85.7% and 71.4% of patients had HbA1c levels ≥8%, and ≥9%, respectively. ANGPTL6 levels were significantly higher in patients with type 2 diabetes than in non-diabetic controls. In patients with type 2 diabetes, ANGPTL6 was significantly and positively correlated with the duration of diabetes, systolic blood pressure, gamma-glutamyl transpeptidase, C-reactive protein (CRP), and the intimal medial complex thickness of the carotid artery (IMT), and inversely correlated with HbA1c. In the multiple regression analysis, ANGPTL6 had a significant positive association with triglyceride in one of the models in which it was included as a variable. Furthermore, ANGPTL6 also showed significant positive associations with CRP and IMT in models in which they were included as variables. Conclusion The current study suggests that circulating levels of ANGPTL6 may be negatively associated with poor glycemic control and positively associated with the degree of atherosclerosis, as reflected by IMT, in patients with type 2 diabetes, most of whom had elevated HbA1c levels.</p>","PeriodicalId":13719,"journal":{"name":"Internal Medicine","volume":" ","pages":"643-649"},"PeriodicalIF":1.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141901639","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":"Impaired Consciousness Due to Hyperammonemia During S-1 Administration for Unresectable Pancreatic Cancer.","authors":"Nagahiro Tokuyama, Sayaka Ikeda, Ryosuke Ishida, Ryoko Futai, Kazutoshi Tobimatsu, Yuzo Kodama","doi":"10.2169/internalmedicine.3771-24","DOIUrl":"10.2169/internalmedicine.3771-24","url":null,"abstract":"<p><p>A 71-year-old woman diagnosed with unresectable locally advanced pancreatic cancer was initially treated with gemcitabine and nab-paclitaxel as first-line therapy. The tumor exhibited no significant progression; however, after 12 cycles, the patient developed drug-induced interstitial pneumonia, leading to the discontinuation of gemcitabine and nab-paclitaxel therapy. Following recovery from pneumonia, S-1 therapy was initiated as second-line treatment. During S-1 therapy, she was hospitalized because of impaired consciousness and was subsequently diagnosed with hyperammonemia induced by S-1. Although rarely reported, S-1-induced hyperammonemia is potentially a significant adverse effect. Here, we herein report the case of a patient with pancreatic cancer.</p>","PeriodicalId":13719,"journal":{"name":"Internal Medicine","volume":" ","pages":"695-698"},"PeriodicalIF":1.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141758560","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":"Reliability and Validity of the Japanese Version of the Fatigue Assessment Scale.","authors":"Kazuki Tokumasu, Nobuyoshi Matsuki, Hirohisa Fujikawa, Yoko Sakamoto, Fumio Otsuka","doi":"10.2169/internalmedicine.4101-24","DOIUrl":"10.2169/internalmedicine.4101-24","url":null,"abstract":"<p><p>Objective General fatigue is one of the most frequent chief complaints in primary care, and an accurate assessment of fatigue has a direct impact on a patient's quality of life and treatment decisions. The Fatigue Assessment Scale (FAS), a measure of general fatigue, is useful for assessing fatigue in diverse cultures and diseases. However, there has been no study showing the reliability and validity of the scale in the Japanese context. The present study assessed the reliability and validity of the Japanese version of the FAS. Methods This study was conducted on 649 patients with long COVID who had a high frequency of general fatigue. To test the structural validity of the FAS, the patients were randomly divided into two groups: one in which an exploratory factor analysis (EFA) was conducted and one in which a confirmatory factor analysis (CFA) was conducted. Cronbach's alpha was calculated to assess internal consistency reliability. Results As 58 patients had missing values, we analyzed the data of 591 patients. The EFA led to an FAS comprising two factors. The CFA showed an acceptable fit for this two-factor model. The internal consistency was found to be good (Cronbach's alpha =0.89). Conclusion This study verified the structural validity and internal consistency and reliability of the Japanese version of the FAS. The results indicate that the Japanese version of the FAS is useful for assessing general fatigue in patients with long COVID in Japan.</p>","PeriodicalId":13719,"journal":{"name":"Internal Medicine","volume":" ","pages":"658-663"},"PeriodicalIF":1.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141633440","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 Man with Primary Hyperchylomicronemia with Triglyceride Levels Exceeding 11,000 mg/dL Was Well Controlled by Pemafibrate Combined with Dietary Therapy.","authors":"Hiroyuki Ueda, Ryohei Mineo, Takuya Sugiyama, Masahiro Koseki, Yoshito Itoh, Ryuya Iwamoto, Sachiko Tamba, Koji Yamamoto, Yuya Yamada, Hisatoyo Hiraoka, Yuji Matsuzawa","doi":"10.2169/internalmedicine.3946-24","DOIUrl":"10.2169/internalmedicine.3946-24","url":null,"abstract":"<p><p>A 50-year-old man with a triglyceride (TG) level of 11,397 mg/dL was admitted to our hospital. He consumed a high-fat and high-carbohydrate diet as well as more than 100 g of alcohol per day. He had type 2 diabetes and obesity and had previously suffered from severe acute pancreatitis twice. A genetic analysis revealed compound heterozygous mutations in APOA5 (c.56C>G and c.553G>T). In addition to low-fat meals and alcohol cessation, administration of pemafibrate lowered his triglyceride levels to <150 mg/dL.</p>","PeriodicalId":13719,"journal":{"name":"Internal Medicine","volume":" ","pages":"741-747"},"PeriodicalIF":1.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141758556","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}