Journal of Diabetes Investigation最新文献

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Sarcopenia: Loss of mighty armor against frailty and aging Sarcopenia:失去对抗虚弱和衰老的强大盔甲
IF 3.2 3区 医学
Journal of Diabetes Investigation Pub Date : 2023-08-08 DOI: 10.1111/jdi.14067
Takayoshi Sasako, Kohjiro Ueki
{"title":"Sarcopenia: Loss of mighty armor against frailty and aging","authors":"Takayoshi Sasako,&nbsp;Kohjiro Ueki","doi":"10.1111/jdi.14067","DOIUrl":"https://doi.org/10.1111/jdi.14067","url":null,"abstract":"<p>The goal of diabetes management is to achieve longevity and quality of life equivalent to those of people without diabetes, and for that, it is now deemed important to pay close attention not only to diabetic vascular complications but also to diabetic comorbidities, as is recommended by the Japan Diabetes Society. In this editorial, we focus on sarcopenia as an important diabetic comorbidity which is an aging-related phenomenon in skeletal muscle. Taking our recent report on a sarcopenia mouse model and other accumulated evidence into account, we propose the existence of a skeletal muscle-centered inter-tissue network that regulates frailty and systemic aging. Sarcopenia is deemed to be a state in which skeletal muscle serving as a protective mighty armor against frailty and systemic aging is lost, and it is vitally important to establish how to recover it and keep it in good shape, so that the goal of diabetes management can be achieved.\u0000 <figure>\u0000 <div><picture>\u0000 <source></source></picture><p></p>\u0000 </div>\u0000 </figure></p>","PeriodicalId":190,"journal":{"name":"Journal of Diabetes Investigation","volume":"14 10","pages":"1145-1147"},"PeriodicalIF":3.2,"publicationDate":"2023-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jdi.14067","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41082038","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Elevated serum uric acid is a risk factor for progression to prediabetes in Japanese women: A 5-year retrospective chort study 血清尿酸升高是日本女性发展为糖尿病前期的危险因素:一项5年回顾性chort研究。
IF 3.2 3区 医学
Journal of Diabetes Investigation Pub Date : 2023-08-08 DOI: 10.1111/jdi.14064
Masanori Shimodaira, Yu Minemura, Tomohiro Nakayama
{"title":"Elevated serum uric acid is a risk factor for progression to prediabetes in Japanese women: A 5-year retrospective chort study","authors":"Masanori Shimodaira,&nbsp;Yu Minemura,&nbsp;Tomohiro Nakayama","doi":"10.1111/jdi.14064","DOIUrl":"10.1111/jdi.14064","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Aims/Introduction</h3>\u0000 \u0000 <p>The association between serum uric acid (SUA) levels and prediabetes risk remains poorly understood. The aim of this longitudinal retrospective study was to evaluate the association between SUA levels and prediabetes progression in Japanese individuals through sex-specific analysis.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Materials and Methods</h3>\u0000 \u0000 <p>We enrolled 20,743 participants (11,916 men and 8,827 women) who underwent annual medical health checkups in 2017 (baseline) and 2022. None of the participants had diabetes and prediabetes or were taking SUA-lowering medications at baseline. Participants were divided into four groups according to the quartiles of SUA levels at baseline. Multivariable-adjusted Cox regression analysis was conducted to examine the risk of prediabetes progression. In addition, multivariate restricted cubic spline analysis was conducted to investigate the dose–response risk.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>In women, compared with the lowest SUA quartile (Q1) group, the adjusted hazard ratios (95% confidence intervals) of prediabetes in the Q2, Q3, and Q4 groups were 1.03 (0.86–1.25), 1.41 (1.18–1.68), and 1.55 (1.30–1.84), respectively. However, in men, no significant association in the risk of prediabetes was found across quartiles of SUA. Furthermore, in women, restricted cubic spline analysis revealed the dose–response relationship between SUA and progression to prediabetes.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>The results indicate that elevated serum SUA levels might be positively and independently associated with an increased risk of progression to prediabetes in Japanese women.</p>\u0000 </section>\u0000 </div>","PeriodicalId":190,"journal":{"name":"Journal of Diabetes Investigation","volume":"14 11","pages":"1237-1245"},"PeriodicalIF":3.2,"publicationDate":"2023-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jdi.14064","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10014089","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Association between hemoglobin glycation index and non-alcoholic fatty liver disease in the patients with type 2 diabetes mellitus 型患者血红蛋白糖化指数与非酒精性脂肪肝的关系 2糖尿病。
IF 3.2 3区 医学
Journal of Diabetes Investigation Pub Date : 2023-08-08 DOI: 10.1111/jdi.14066
Meng Wang, Shiwei Li, Xinxin Zhang, Xin Li, Jingqiu Cui
{"title":"Association between hemoglobin glycation index and non-alcoholic fatty liver disease in the patients with type 2 diabetes mellitus","authors":"Meng Wang,&nbsp;Shiwei Li,&nbsp;Xinxin Zhang,&nbsp;Xin Li,&nbsp;Jingqiu Cui","doi":"10.1111/jdi.14066","DOIUrl":"10.1111/jdi.14066","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Aims/Introduction</h3>\u0000 \u0000 <p>The hemoglobin glycation index (HGI) represent the disparity between actual glycated hemoglobin measurements and predicted HbA1c. It serves as a proxy for the degree of non-enzymatic glycation of hemoglobin, which has been found to be positively correlated with diabetic comorbidities. In this study, we investigated the relationship between HGI and non-alcoholic fatty liver disease (NAFLD), along with other relevant biological markers in patients with diabetes.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Materials and Methods</h3>\u0000 \u0000 <p>This cross-sectional study consisted of 3,191 adults diagnosed with type 2 diabetes mellitus. We calculated the predicted glycated hemoglobin levels based on fasting blood glucose levels. Multivariate binary logistic regression analysis was conducted to examine the correlation between the HGI and NAFLD. Hepatic steatosis was diagnosed using ultrasonography.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Among all participants, 1,784 (55.91%) were diagnosed with NAFLD. Participants with confirmed NAFLD showed elevated body mass index, diastolic blood pressure, liver enzyme, total cholesterol, triglyceride, low-density lipoprotein and uric acid levels compared with those without NAFLD. In the unadjusted model, participants in the last tertile of HGI were 1.40-fold more likely to develop NAFLD than those in the first tertile (95% confidence interval 1.18–1.66; <i>P</i> &lt; 0.001). In the fully adjusted model, those in the last tertile of HGI had a 39% increased risk of liver steatosis compared with confidence interval in the first tertile of HGI (95% confidence interval 1.12–1.74; <i>P</i> &lt; 0.001).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>A higher HGI suggests an elevated risk of developing NAFLD in patients with type 2 diabetes.</p>\u0000 </section>\u0000 </div>","PeriodicalId":190,"journal":{"name":"Journal of Diabetes Investigation","volume":"14 11","pages":"1303-1311"},"PeriodicalIF":3.2,"publicationDate":"2023-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jdi.14066","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10310708","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Diabetic ketoacidosis due to a sensor defect of FreeStyle Libre: A case report FreeStyle Libre传感器缺陷引起的糖尿病酮症酸中毒:一例报告。
IF 3.2 3区 医学
Journal of Diabetes Investigation Pub Date : 2023-08-02 DOI: 10.1111/jdi.14065
Toshiki Kogai, Junko Sato, Marin Hirakata, Tatsuya Iwamoto, Kenichi Nakajima, Hiromasa Goto, Yuya Nishida, Hirotaka Watada
{"title":"Diabetic ketoacidosis due to a sensor defect of FreeStyle Libre: A case report","authors":"Toshiki Kogai,&nbsp;Junko Sato,&nbsp;Marin Hirakata,&nbsp;Tatsuya Iwamoto,&nbsp;Kenichi Nakajima,&nbsp;Hiromasa Goto,&nbsp;Yuya Nishida,&nbsp;Hirotaka Watada","doi":"10.1111/jdi.14065","DOIUrl":"10.1111/jdi.14065","url":null,"abstract":"<p>The FreeStyle Libre Flash Glucose Monitoring System allows users to obtain sensor glucose values by scanning with the reader or their mobile phone. We report a case of a 59-year-old man with type 1 diabetes mellitus who developed diabetic ketoacidosis due to a sensor defect. After replacing the sensor with a new one, the glucose value shown in the device was much lower than usual, which made him consider that he was hypoglycemic. Accordingly, he reduced his insulin dose and eventually developed diabetic ketoacidosis. He was unaware of the discrepancy due to the lack of self-monitoring of his blood glucose, although he was educated to do. In sum, glucose monitoring with the FreeStyle Libre is helpful; however, it is necessary to remind the patient that a sensor defect leading to a severe complication frequently happens.</p>","PeriodicalId":190,"journal":{"name":"Journal of Diabetes Investigation","volume":"14 11","pages":"1321-1324"},"PeriodicalIF":3.2,"publicationDate":"2023-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jdi.14065","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9920822","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Real-world risk of cardiovascular diseases in patients with type 2 diabetes associated with sodium–glucose cotransporter 2 inhibitors in comparison with metformin: A propensity score-matched model analysis in Japan 类型患者患心血管疾病的真实风险 2型糖尿病与钠-葡萄糖协同转运蛋白 2种抑制剂与二甲双胍的比较:日本的倾向评分匹配模型分析。
IF 3.2 3区 医学
Journal of Diabetes Investigation Pub Date : 2023-07-30 DOI: 10.1111/jdi.14062
Takeshi Horii, Yoichi Oikawa, Akira Shimada, Kiyoshi Mihara
{"title":"Real-world risk of cardiovascular diseases in patients with type 2 diabetes associated with sodium–glucose cotransporter 2 inhibitors in comparison with metformin: A propensity score-matched model analysis in Japan","authors":"Takeshi Horii,&nbsp;Yoichi Oikawa,&nbsp;Akira Shimada,&nbsp;Kiyoshi Mihara","doi":"10.1111/jdi.14062","DOIUrl":"10.1111/jdi.14062","url":null,"abstract":"<p>We aimed to compare the effects of cardiovascular disease risk in Japanese patients with type 2 diabetes on sodium–glucose cotransporter 2 inhibitors (SGLT2Is) or metformin. This retrospective, real-world cohort study was carried out using a claims database and propensity score matching; 58,402 eligible patients (29,201 per group) were included. The outcomes included nonfatal myocardial infarction, angina pectoris, nonfatal stroke, hospitalization for heart failure and composite end-points. The hazard ratio (HR) for the composite end-point was 0.79, which was lower for SGLT2Is than for metformin. For male patients (HR 0.76), patients aged &lt;65 years (HR 0.94), patients aged ≥75 years (HR 0.78) and patients with body mass index ≥25 kg/m<sup>2</sup> (HR 0.76), the HRs for the composite end-point were significantly lower in the SGLT2I group than in the metformin group. SGLT2Is might be superior to metformin in reducing the composite risk of cardiovascular disease in patients with type 2 diabetes.</p>","PeriodicalId":190,"journal":{"name":"Journal of Diabetes Investigation","volume":"14 11","pages":"1262-1267"},"PeriodicalIF":3.2,"publicationDate":"2023-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jdi.14062","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9897325","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Associations of polyneuropathy with risk of all-cause and cardiovascular mortality, cardiovascular disease events stratified by diabetes status 多发性神经病与全因风险和心血管死亡率、按糖尿病状态分层的心血管疾病事件的相关性。
IF 3.2 3区 医学
Journal of Diabetes Investigation Pub Date : 2023-07-30 DOI: 10.1111/jdi.14063
Kyuho Kim, Su-Nam Lee, Yu-Bae Ahn, Seung-Hyun Ko, Jae-Seung Yun
{"title":"Associations of polyneuropathy with risk of all-cause and cardiovascular mortality, cardiovascular disease events stratified by diabetes status","authors":"Kyuho Kim,&nbsp;Su-Nam Lee,&nbsp;Yu-Bae Ahn,&nbsp;Seung-Hyun Ko,&nbsp;Jae-Seung Yun","doi":"10.1111/jdi.14063","DOIUrl":"10.1111/jdi.14063","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Aims/Introduction</h3>\u0000 \u0000 <p>We investigated the association of polyneuropathy (PN) with all-cause and cardiovascular (CV) mortality and with cardiovascular disease (CVD) events stratified by diabetes status.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Materials and Methods</h3>\u0000 \u0000 <p>This prospective cohort study used the UK Biobank. Polyneuropathy was defined based on nurse-led interviews or ICD codes for polyneuropathy. Cox proportional hazards models were used to investigate the association of polyneuropathy with clinical outcomes.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>A total of 459,127 participants were included in the analysis. Polyneuropathy was significantly associated with all-cause and cardiovascular mortality, and with CVD events even after adjusting for CVD risk factors across all diabetes statuses. Metabolic parameters HbA<sub>1c</sub>, waist circumference, BMI and the inflammatory parameter C-reactive protein showed significant mediation effects for the association between polyneuropathy and CVD. Adherence to a favorable lifestyle was associated with a lower risk of all-cause and cardiovascular mortality regardless of polyneuropathy status.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Polyneuropathy was associated with all-cause and cardiovascular mortality, and with CVD events in subjects with diabetes or prediabetes, even those having normal glucose tolerance. This study suggests the importance of polyneuropathy as a risk factor for death and highlights the necessity of early diagnosis and lifestyle intervention for those with type 2 diabetes and polyneuropathy.</p>\u0000 </section>\u0000 </div>","PeriodicalId":190,"journal":{"name":"Journal of Diabetes Investigation","volume":"14 11","pages":"1279-1288"},"PeriodicalIF":3.2,"publicationDate":"2023-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jdi.14063","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9951314","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Successful introduction of sensor-augmented pump therapy in a patient with diabetes and needle phobia: A case report 在糖尿病和针头恐惧症患者中成功引入传感器增强泵治疗:一例报告。
IF 3.2 3区 医学
Journal of Diabetes Investigation Pub Date : 2023-07-26 DOI: 10.1111/jdi.14061
Keiji Sugai, Junpei Shikuma, Satoshi Hiroike, Hironori Abe, Ryo Suzuki
{"title":"Successful introduction of sensor-augmented pump therapy in a patient with diabetes and needle phobia: A case report","authors":"Keiji Sugai,&nbsp;Junpei Shikuma,&nbsp;Satoshi Hiroike,&nbsp;Hironori Abe,&nbsp;Ryo Suzuki","doi":"10.1111/jdi.14061","DOIUrl":"10.1111/jdi.14061","url":null,"abstract":"<p>Needle phobia is a specific phobia classified as an anxiety disorder in the Diagnostic and Statistical Manual of Mental Disorders-5, and can be a serious problem for patients requiring insulin injections. However, there have been few reports to date on the management of adults with diabetes and needle phobia. We here report a case of a woman with pancreatic diabetes who developed needle phobia and could no longer perform self-injections. She started to use a sensor-augmented pump (SAP), and was able to perform a puncture for the insulin pump and the continuous glucose monitoring sensor by herself. The SAP treatment achieved self-management, better glycemic control, and high treatment satisfaction quantified using the Diabetes Treatment Satisfaction Questionnaire in this patient. Our case suggests the therapeutic potential of SAP in adults with needle phobia and diabetes requiring insulin therapy.</p>","PeriodicalId":190,"journal":{"name":"Journal of Diabetes Investigation","volume":"14 11","pages":"1318-1320"},"PeriodicalIF":3.2,"publicationDate":"2023-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jdi.14061","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9866997","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Delineating the transcriptional atlas for impaired insulin secretion: A window into type 2 diabetes pathophysiology 描绘胰岛素分泌受损的转录图谱:进入类型的窗口 2糖尿病病理生理学。
IF 3.2 3区 医学
Journal of Diabetes Investigation Pub Date : 2023-07-26 DOI: 10.1111/jdi.14060
Jian Li, Jin Yang, Tianpei Hong
{"title":"Delineating the transcriptional atlas for impaired insulin secretion: A window into type 2 diabetes pathophysiology","authors":"Jian Li,&nbsp;Jin Yang,&nbsp;Tianpei Hong","doi":"10.1111/jdi.14060","DOIUrl":"10.1111/jdi.14060","url":null,"abstract":"<p>Impaired insulin secretion from pancreatic islet β-cells is a major cause of metabolic dysregulation and type 2 diabetes mellitus. Complete transcriptomic characterization of islets in patients with type 2 diabetes mellitus has yet to be completed, and it remains challenging to link insulin secretion dysfunction with precise changes in gene expression. There are several ongoing initiatives aimed at enabling the discovery of regulatory molecules that might contribute to insulin secretion dysfunction and whole-body glucose homeostasis impairment. In one such line of research, Bacos <i>et al</i>.<span><sup>1</sup></span> obtained evidence suggesting that the gene <i>PAX5</i> might play an important role in impaired insulin secretion in human islets (Figure 1).</p><p>Given the established differences between mouse and human islets, type 2 diabetes mellitus candidate genes that were identified in mice might not have the same regulative effects on human islets. There is an unmet need for powerful transcriptomic analyses that can be applied to human islets isolated from individuals with type 2 diabetes mellitus and nondiabetic controls. Due to the difficulties associated with obtaining human islets, most human islet transcriptomic studies thus far have involved small cohorts and have lacked functional validation. Bacos <i>et al</i>.<span><sup>1</sup></span> generated a ribonucleic acid sequencing (RNA-Seq) resource bank from the large Lund University Diabetes Center pancreatic islet cohort. It is one of the largest existing type 2 diabetes mellitus human islet cohorts in existence, providing an extensive gene expression resource based on 309 islet preparations in total from individuals with type 2 diabetes mellitus and nondiabetic controls. They then identified 395 differentially expressed genes (DEGs) from the Lund University Diabetes Center cohort, and further performed some functional validation of DEGs <i>in vitro</i>.</p><p>The utility of transcriptomic resources can be affirmed by robust replication of DEGs across studies and databases. To date, few DEG replication studies in type 2 diabetes mellitus human islets have been reported, and the various studies in the literature showing replication have been relatively small, including the work by Bacos <i>et al</i>.<span><sup>1</sup></span> Unsurprisingly, the variance in demographic and pathophysiological profiles among sample donors affects DEG overlap across study cohorts. There remains a need to analyze human islets from a more diverse donor pool, and larger cohorts to clarify whether islet gene expression differs among individuals with type 2 diabetes mellitus in relation to demographic and pathophysiological variables. Another important factor affecting DEG overlap is the particular screen technology applied. RNA-Seq, microarray analysis and other screening technologies have been used to identify genes with altered expression in type 2 diabetes mellitus human islets, generating transcriptiona","PeriodicalId":190,"journal":{"name":"Journal of Diabetes Investigation","volume":"14 11","pages":"1231-1233"},"PeriodicalIF":3.2,"publicationDate":"2023-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jdi.14060","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10175128","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
A subtype of laminopathies: Generalized lipodystrophy-associated progeroid syndrome caused by LMNA gene c.29C>T mutation 层粘连蛋白病的一种亚型:LMNA基因c.29C>T突变引起的广泛性脂肪营养不良相关孕激素综合征
IF 3.2 3区 医学
Journal of Diabetes Investigation Pub Date : 2023-07-13 DOI: 10.1111/jdi.14055
Shipeng Huang, Yan Zhang, Zuan Zhan, Shuhao Gong
{"title":"A subtype of laminopathies: Generalized lipodystrophy-associated progeroid syndrome caused by LMNA gene c.29C>T mutation","authors":"Shipeng Huang,&nbsp;Yan Zhang,&nbsp;Zuan Zhan,&nbsp;Shuhao Gong","doi":"10.1111/jdi.14055","DOIUrl":"https://doi.org/10.1111/jdi.14055","url":null,"abstract":"<p>The term laminopathies refers to a group of congenital diseases characterized by accelerated degeneration of human tissues. Mutations in LMNA, LMNB, ZMPSTE24, and other genes lead to structural and functional abnormalities associated with lamins. One subtype of laminopathy is the generalized lipodystrophy-associated progeroid syndrome (GLPS), which occurs in patients with heterozygous mutations of the LMNA gene c.29C&gt;T(p.T10I). This paper reports the first case of GLPS in China and compares the clinical features of other GLPS patients with literature reports. A 16-year-old male patient was treated for diabetic ketoacidosis, presenting with premature aging appearance, systemic lipodystrophy, severe fatty liver, and decreased bone density. After peripheral blood DNA extraction and second-generation sequencing, a heterozygous mutation of exon 1 of the LMNA gene c.29C&gt;T(p.T10I) was detected. This case of GLPS may provide a diagnostic and therapeutic basis for potential patients.</p>","PeriodicalId":190,"journal":{"name":"Journal of Diabetes Investigation","volume":"14 10","pages":"1221-1225"},"PeriodicalIF":3.2,"publicationDate":"2023-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jdi.14055","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41081519","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Validity of the short-form five-item Problem Area in Diabetes questionnaire as a depression screening tool in type 2 diabetes mellitus patients 糖尿病五题问卷作为2型糖尿病患者抑郁筛查工具的有效性
IF 3.2 3区 医学
Journal of Diabetes Investigation Pub Date : 2023-07-06 DOI: 10.1111/jdi.14051
Donovan Tay, Marvin Chua, Joan Khoo
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