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Unraveling the Implications of Digit Bias in Digital Health - A Literature Review. 揭示数字健康中数字偏差的含义-文献综述。
IF 1 4区 医学
Internal Medicine Pub Date : 2025-07-15 Epub Date: 2024-12-05 DOI: 10.2169/internalmedicine.4666-24
Takahiro Suzuki, Hajime Nagasu, Takeshi Ebara, Nobuyuki Kagiyama, Takuya Kishi, Yuichiro Yano, Kazuomi Kario, Akira Nishiyama, Hisatomi Arima, Fujimi Kawai, Shigeru Shibata, Koichi Node, Atsushi Mizuno
{"title":"Unraveling the Implications of Digit Bias in Digital Health - A Literature Review.","authors":"Takahiro Suzuki, Hajime Nagasu, Takeshi Ebara, Nobuyuki Kagiyama, Takuya Kishi, Yuichiro Yano, Kazuomi Kario, Akira Nishiyama, Hisatomi Arima, Fujimi Kawai, Shigeru Shibata, Koichi Node, Atsushi Mizuno","doi":"10.2169/internalmedicine.4666-24","DOIUrl":"10.2169/internalmedicine.4666-24","url":null,"abstract":"<p><p>Digital health, which encompasses digital medicine and therapy, integrates advanced technologies across healthcare. Central to this transformation is 'digitization,' which converts continuous analog data into a discrete digital form. However, this process is challenging. First, digitization inherently has the potential to introduce information loss, thereby diminishing the richness and complexity of data. Second, \"digit bias,\" a cognitive distortion, emerges in the interpretation phase, where individuals' perceptions of and reactions to digital data are intrinsically skewed. There exist two major cognitive biases during digitization process: \"digit preferences,\" where healthcare providers prioritize specific numbers, and \"left digit bias\" where continuous variables are disproportionately estimated by focusing on the leftmost digit. Although information loss and cognitive biases can cause significant distortions in healthcare, the effects of this \"digitization\" process have not been adequately quantified, and the accumulation of further evidence in this field is anticipated.</p>","PeriodicalId":13719,"journal":{"name":"Internal Medicine","volume":" ","pages":"2090-2099"},"PeriodicalIF":1.0,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142780215","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}
引用次数: 0
Dyspnea with Hemidiaphragm Elevation in a Patient with Giant Cell Arteritis. 巨细胞动脉炎患者呼吸困难伴膈膜抬高1例。
IF 1 4区 医学
Internal Medicine Pub Date : 2025-07-15 Epub Date: 2025-01-15 DOI: 10.2169/internalmedicine.4055-24
Yosuke Asano, Yoshinori Matsumoto, Natsuki Kubota, Yuya Terajima, Kazuya Matsumoto, Kenta Shidahara, Kei Hirose, Takato Nakadoi, Shoichi Nawachi, Yu Katayama, Yoshia Miyawaki, Eri Katsuyama, Takayuki Katsuyama, Mariko Takano-Narazaki, Ken-Ei Sada, Jun Wada
{"title":"Dyspnea with Hemidiaphragm Elevation in a Patient with Giant Cell Arteritis.","authors":"Yosuke Asano, Yoshinori Matsumoto, Natsuki Kubota, Yuya Terajima, Kazuya Matsumoto, Kenta Shidahara, Kei Hirose, Takato Nakadoi, Shoichi Nawachi, Yu Katayama, Yoshia Miyawaki, Eri Katsuyama, Takayuki Katsuyama, Mariko Takano-Narazaki, Ken-Ei Sada, Jun Wada","doi":"10.2169/internalmedicine.4055-24","DOIUrl":"10.2169/internalmedicine.4055-24","url":null,"abstract":"<p><p>We herein report the first case of dyspnea with hemidiaphragm elevation in a 68-year-old woman with active giant cell arteritis (GCA), including successful treatment. Contrast-enhanced computed tomography showed a reduced density of the left ophthalmic artery and the left superficial temporal artery with increased soft tissue compared to the other side, indicating that the GCA had flared up and suggesting that the hemidiaphragm elevation might be caused by vasculitis-associated ischemia of the right phrenic nerve. Hemidiaphragm paralysis due to vasculitis-associated ischemia in patients with GCA needs to be distinguished from local infection, tumors, and hepatomegaly, which are the major causes of hemidiaphragm elevation.</p>","PeriodicalId":13719,"journal":{"name":"Internal Medicine","volume":" ","pages":"2245-2248"},"PeriodicalIF":1.0,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143004801","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}
引用次数: 0
Diffuse Large B-cell Lymphoma with a Multilobated Nuclear Morphology Harboring t(14;18)(q32;q21) and t(3;22)(q27;q11). 弥漫性大b细胞淋巴瘤伴多瓣核形态,包含t (14;18) (q32;q21)和t (3;22) (q27;q11) 1例报告。
IF 1 4区 医学
Internal Medicine Pub Date : 2025-07-15 Epub Date: 2024-12-26 DOI: 10.2169/internalmedicine.4719-24
Masahiro Manabe, Naoyuki Inano, Yuuji Hagiwara, Ki-Ryang Koh
{"title":"Diffuse Large B-cell Lymphoma with a Multilobated Nuclear Morphology Harboring t(14;18)(q32;q21) and t(3;22)(q27;q11).","authors":"Masahiro Manabe, Naoyuki Inano, Yuuji Hagiwara, Ki-Ryang Koh","doi":"10.2169/internalmedicine.4719-24","DOIUrl":"10.2169/internalmedicine.4719-24","url":null,"abstract":"<p><p>A 70-year-old woman was admitted to our hospital with dyspnea. Atypical cells with multilobated nuclei were observed in the pleural effusion. Diffuse large B-cell lymphoma (DLBCL) was diagnosed based on a cell block analysis. A chromosomal analysis of lymphoma cells revealed t(14;18)(q32;q21) and t(3;22)(q27;q11). The patient's disease was refractory to chemotherapy, and she died within one year. Although flower-like nuclei are typical of adult T-cell lymphoma/leukemia, similar multilobated nuclei may occur in DLBCL. Although multilobated DCBCL have been reported to have a better prognosis than other forms of DLBCL, the abovementioned translocations may have contributed to the patient's aggressive clinical course.</p>","PeriodicalId":13719,"journal":{"name":"Internal Medicine","volume":" ","pages":"2234-2239"},"PeriodicalIF":1.0,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142894408","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}
引用次数: 0
Validity and Reliability of the Japanese Version of the ACE Tool for Assessing Evidence-based Medicine Competencies in Medical Practitioners and Students: An Evaluation in an Online Setting. 评估医生和学生循证医学能力的日文版ACE工具的效度和可靠性:在线环境下的评估
IF 1 4区 医学
Internal Medicine Pub Date : 2025-07-15 Epub Date: 2024-12-26 DOI: 10.2169/internalmedicine.4724-24
Hidehiro Someko, Ryohei Yamamoto, Takashi Ariie, Akira Onishi, Junji Kumasawa, Yuki Okazawa, Nao Hanaki, Keisuke Anan, Yuki Matsuda, Gaku Fujiwara, Katsuhiko Hashimoto, Masafumi Tada, Yuri Akamatsu, Minoru Murakami, Kotaro Fujii, Yuki Kataoka
{"title":"Validity and Reliability of the Japanese Version of the ACE Tool for Assessing Evidence-based Medicine Competencies in Medical Practitioners and Students: An Evaluation in an Online Setting.","authors":"Hidehiro Someko, Ryohei Yamamoto, Takashi Ariie, Akira Onishi, Junji Kumasawa, Yuki Okazawa, Nao Hanaki, Keisuke Anan, Yuki Matsuda, Gaku Fujiwara, Katsuhiko Hashimoto, Masafumi Tada, Yuri Akamatsu, Minoru Murakami, Kotaro Fujii, Yuki Kataoka","doi":"10.2169/internalmedicine.4724-24","DOIUrl":"10.2169/internalmedicine.4724-24","url":null,"abstract":"<p><p>Objective Evidence-based medicine (EBM) competency is crucial for healthcare professionals; however, validated tools to assess EBM skills in Japanese are scarce. This study aimed to develop and validate a Japanese version of the Assessing Competency in EBM (ACE) tool. Methods We translated the ACE tool into Japanese, following international standards, and distributed it online to 99 healthcare professionals and students. The participants completed demographic questions and the Japanese version of the ACE tool. A subset also completed the retest and Fresno test. Internal consistency was assessed using Cronbach's alpha, test-retest reliability using the intraclass correlation coefficient (ICC), and construct validity using a confirmatory factor analysis and correlation with the Fresno test. Results The Japanese version of the ACE tool showed a low internal consistency (Cronbach's alpha =0.31, 95% CI: 0.09-0.49), but an acceptable test-retest reliability (ICC =0.64, 95% CI: 0.40-0.81). A confirmatory factor analysis provided moderate support for the structure of the tool (SRMR =0.092, RMSEA =0.048, CFI =0.852). The tool demonstrated a moderate correlation with the Fresno test (r =0.35). The median completion time was 847 s (IQR, 577-1,249 s). Conclusion Although the Japanese version of the ACE tool showed some promising aspects, including a quick administration and partial validity, its low internal consistency suggests that refinement is needed before it can be confidently used in Japanese medical education settings. Future studies should focus on improving the tool's reliability, potentially through in-person administration, to develop a robust EBM assessment tool in the Japanese healthcare context.</p>","PeriodicalId":13719,"journal":{"name":"Internal Medicine","volume":" ","pages":"2136-2142"},"PeriodicalIF":1.0,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142894445","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}
引用次数: 0
If Status Epilepticus Disappears with Tocilizumab, Paucisymptomatic SARS-CoV-2 Infection Should Be Suspected. 如果使用托珠单抗后癫痫持续状态消失,则应怀疑无症状的SARS-CoV-2感染。
IF 1 4区 医学
Internal Medicine Pub Date : 2025-07-15 Epub Date: 2025-04-19 DOI: 10.2169/internalmedicine.4896-24
Carla Alexandra Scorza, Fulvio Alexandre Scorza, Josef Finsterer
{"title":"If Status Epilepticus Disappears with Tocilizumab, Paucisymptomatic SARS-CoV-2 Infection Should Be Suspected.","authors":"Carla Alexandra Scorza, Fulvio Alexandre Scorza, Josef Finsterer","doi":"10.2169/internalmedicine.4896-24","DOIUrl":"10.2169/internalmedicine.4896-24","url":null,"abstract":"","PeriodicalId":13719,"journal":{"name":"Internal Medicine","volume":" ","pages":"2261"},"PeriodicalIF":1.0,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144009494","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}
引用次数: 0
Efficacy and Safety of Switching between Anti-CGRP Monoclonal Antibodies: A Detailed Monthly and Long-term Follow-up Study and Literature Review. 抗cgrp单克隆抗体转换的有效性和安全性:详细的月度和长期随访研究和文献综述。
IF 1 4区 医学
Internal Medicine Pub Date : 2025-07-15 Epub Date: 2025-01-03 DOI: 10.2169/internalmedicine.4360-24
Kota Oshima, Keiko Ihara, Narumi Watanabe, Ryo Takemura, Kei Ishizuchi, Nobuyuki Takahashi, Mamoru Shibata, Jin Nakahara, Tsubasa Takizawa
{"title":"Efficacy and Safety of Switching between Anti-CGRP Monoclonal Antibodies: A Detailed Monthly and Long-term Follow-up Study and Literature Review.","authors":"Kota Oshima, Keiko Ihara, Narumi Watanabe, Ryo Takemura, Kei Ishizuchi, Nobuyuki Takahashi, Mamoru Shibata, Jin Nakahara, Tsubasa Takizawa","doi":"10.2169/internalmedicine.4360-24","DOIUrl":"10.2169/internalmedicine.4360-24","url":null,"abstract":"<p><p>Objective Switching from one anti-calcitonin gene-related peptide monoclonal antibody (CGRP mAb) to another can be beneficial for treating patients with migraine who do not respond well to the first CGRP mAb. However, detailed and long-term follow-up reports of both efficacy and safety remain insufficient. We conducted a case-series analysis of patients with migraine who switched from galcanezumab to erenumab, both belonging to the class of CGRP mAbs. Methods We conducted a single-center retrospective real-world study. Patients with migraine who first received galcanezumab for ≥3 months and then switched to erenumab at Keio University Hospital were enrolled to investigate changes in monthly migraine days (MMD), response rate, and adverse effects (e.g., injection-site reactions). Additionally, we performed a narrative review of the literature on switching CGRP mAbs. Results Among the nine patients enrolled, the 50% response rate for MMD was 33% at 3 months after switching. Two patients (22%) initially responded at the 3-month assessment, but later reverted to baseline MMD levels. Switching from galcanezumab to erenumab increased the frequency of constipation, which was typically managed using laxatives. Participants who experienced injection-site reactions tended to exhibit similar reactions regardless of the type of CGRP mAb used. Five patients (56%) demonstrated an improvement in satisfaction after erenumab initiation at least once. A literature review revealed that the characteristics of the cohorts varied among studies. Conclusion Switching from galcanezumab to erenumab was effective in some patients, while it was associated with some tolerable side effects, and it improved patient satisfaction in approximately half of the patients, despite interindividual diversity in responses and fluctuating responses after switching, which warrants further investigation.</p>","PeriodicalId":13719,"journal":{"name":"Internal Medicine","volume":" ","pages":"2114-2123"},"PeriodicalIF":1.0,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142931832","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}
引用次数: 0
Acute Liver Failure Caused by Isoniazid during Preventive Treatment for Latent Tuberculosis: A Rare Autopsy Case Report. 潜伏性肺结核预防治疗中异烟肼引起的急性肝衰竭:一个罕见的尸检病例报告。
IF 1 4区 医学
Internal Medicine Pub Date : 2025-07-15 Epub Date: 2024-12-19 DOI: 10.2169/internalmedicine.4720-24
Yuka Yamazaki, Keiichi Tominaga, Takahiro Arisaka, Mayuko Tagaya, Shunsuke Kojimahara, Toshihiko Ohnishi, Yuichi Majima, Akira Yamamiya, Makoto Iijima, Naoya Ikeda, Seiji Niho, Shuhei Noda, Kazuyuki Ishida, Atsushi Irisawa
{"title":"Acute Liver Failure Caused by Isoniazid during Preventive Treatment for Latent Tuberculosis: A Rare Autopsy Case Report.","authors":"Yuka Yamazaki, Keiichi Tominaga, Takahiro Arisaka, Mayuko Tagaya, Shunsuke Kojimahara, Toshihiko Ohnishi, Yuichi Majima, Akira Yamamiya, Makoto Iijima, Naoya Ikeda, Seiji Niho, Shuhei Noda, Kazuyuki Ishida, Atsushi Irisawa","doi":"10.2169/internalmedicine.4720-24","DOIUrl":"10.2169/internalmedicine.4720-24","url":null,"abstract":"<p><p>Treating patients with latent tuberculosis infection (LTBI) to prevent the development of tuberculosis is a fundamental treatment strategy in daily practice. Isoniazid (INH) therapy for 6-12 months is recommended. However, INH can also cause hepatotoxicity. This report describes the autopsy case of a 65-year-old Japanese man diagnosed with LTBI who died of acute liver failure caused by INH.</p>","PeriodicalId":13719,"journal":{"name":"Internal Medicine","volume":" ","pages":"2160-2164"},"PeriodicalIF":1.0,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142853875","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}
引用次数: 0
Wilson's Disease Preceded by Schizophrenia-like Symptoms with Frontal-dominant Leukoencephalopathy. 威尔逊氏病以精神分裂症样症状伴额侧显性白质脑病1例。
IF 1 4区 医学
Internal Medicine Pub Date : 2025-07-15 Epub Date: 2024-12-12 DOI: 10.2169/internalmedicine.4353-24
Ryoji Miyano, Akihiko Mitsutake, Takashi Matsukawa, Satomi Obata, Hiroaki Koyama, Yudai Nakai, Hiroyuki Ishiura, Akatsuki Kubota, Jun Shimizu, Kaori Sakuishi, Tatsushi Toda
{"title":"Wilson's Disease Preceded by Schizophrenia-like Symptoms with Frontal-dominant Leukoencephalopathy.","authors":"Ryoji Miyano, Akihiko Mitsutake, Takashi Matsukawa, Satomi Obata, Hiroaki Koyama, Yudai Nakai, Hiroyuki Ishiura, Akatsuki Kubota, Jun Shimizu, Kaori Sakuishi, Tatsushi Toda","doi":"10.2169/internalmedicine.4353-24","DOIUrl":"10.2169/internalmedicine.4353-24","url":null,"abstract":"<p><p>We herein report a 26-year-old man diagnosed with Wilson's disease (WD), initially treated for schizophrenia for 11 years. At 26 years old, he was admitted because of status epilepticus. Brain magnetic resonance imaging revealed frontal-dominant leukoencephalopathy with cystic changes and basal ganglia atrophy. The diagnosis of WD was confirmed based on neuropsychiatric symptoms, Kayser-Fleischer rings, abnormal copper metabolism, and a genetic analysis of ATP7B. Psychotic symptoms in WD can precede neurological manifestations, and extrapyramidal signs may be mistaken for drug-induced Parkinsonism. WD should be considered in patients presenting with progressive Parkinsonism preceded by schizophrenia-like psychiatric symptoms.</p>","PeriodicalId":13719,"journal":{"name":"Internal Medicine","volume":" ","pages":"2240-2244"},"PeriodicalIF":1.0,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142813101","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}
引用次数: 0
Concomitant Interstitial Pneumonia and Disseminated BCG Infection after Intravesical BCG Therapy. 膀胱内卡介苗治疗后并发间质性肺炎和播散性卡介苗感染1例。
IF 1 4区 医学
Internal Medicine Pub Date : 2025-07-15 Epub Date: 2024-12-19 DOI: 10.2169/internalmedicine.4659-24
Fumi Mochizuki, Midori Hanazawa, Manabu Komine, Hiroya Sunabe, Sayumi Koyanagi, Yuki Yamazaki, Ayumi Watanabe, Takafumi Shimada, Kazuki Obara, Hiroaki Iijima, Koichi Kurishima, Hiroichi Ishikawa
{"title":"Concomitant Interstitial Pneumonia and Disseminated BCG Infection after Intravesical BCG Therapy.","authors":"Fumi Mochizuki, Midori Hanazawa, Manabu Komine, Hiroya Sunabe, Sayumi Koyanagi, Yuki Yamazaki, Ayumi Watanabe, Takafumi Shimada, Kazuki Obara, Hiroaki Iijima, Koichi Kurishima, Hiroichi Ishikawa","doi":"10.2169/internalmedicine.4659-24","DOIUrl":"10.2169/internalmedicine.4659-24","url":null,"abstract":"<p><p>An 83-year-old man presented with persistent fever after intravesical BCG therapy for bladder cancer. Chest computed tomography (CT) and bronchoscopy revealed diffuse ground-glass opacities with multiple micronodules and lymphocyte-predominant bronchoalveolar lavage fluid with a high CD4/CD8 ratio, respectively. Therefore, corticotherapy for interstitial pneumonia was initiated. Anti-fast staining of the respiratory specimens was negative; however, anti-tuberculosis treatment was added based on CT findings suggesting disseminated BCG infection. Fifty days post-admission, Mycobacterium bovis BCG was identified in the initial sputum cultures. Concomitant interstitial pneumonia and BCG infection should be considered in patients with abnormal chest imaging following intravesical BCG therapy.</p>","PeriodicalId":13719,"journal":{"name":"Internal Medicine","volume":" ","pages":"2218-2222"},"PeriodicalIF":1.0,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142853876","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}
引用次数: 0
A Novel Heterozygous and Pathogenic Variant of the HNF1B Gene Associated with Autosomal Dominant Tubulointerstitial Kidney Disease with a Broad Spectrum of Extrarenal Phenotypes. 一种与常染色体显性小管间质肾病伴广谱肾外表型相关的HNF1B基因新杂合致病性变异:一例报告
IF 1 4区 医学
Internal Medicine Pub Date : 2025-07-15 Epub Date: 2025-01-15 DOI: 10.2169/internalmedicine.4548-24
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
{"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.","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":"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":"2208-2212"},"PeriodicalIF":1.0,"publicationDate":"2025-07-15","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}
引用次数: 0
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