Postgraduate medicine最新文献

筛选
英文 中文
Letter regarding 'comparison of two ablation procedures combined with high ligation and foam sclerotherapy and compression therapy for patients with venous leg ulcers'. 关于 "对腿部静脉溃疡患者进行两种消融术结合高位结扎和泡沫硬化剂注射及压力疗法的比较 "的信。
Postgraduate medicine Pub Date : 2024-09-01 Epub Date: 2024-08-26 DOI: 10.1080/00325481.2024.2395247
Hamza Zaheer, Muhammad Hammad Zaheer, Muhammad Haris
{"title":"Letter regarding 'comparison of two ablation procedures combined with high ligation and foam sclerotherapy and compression therapy for patients with venous leg ulcers'.","authors":"Hamza Zaheer, Muhammad Hammad Zaheer, Muhammad Haris","doi":"10.1080/00325481.2024.2395247","DOIUrl":"10.1080/00325481.2024.2395247","url":null,"abstract":"","PeriodicalId":94176,"journal":{"name":"Postgraduate medicine","volume":" ","pages":"691"},"PeriodicalIF":0.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142057655","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The association between frailty biomarkers and 20-year all-cause and cardiovascular mortality among community-dwelling older adults. 在社区居住的老年人中,虚弱生物标志物与 20 年全因死亡率和心血管死亡率之间的关系。
Postgraduate medicine Pub Date : 2024-08-01 Epub Date: 2024-07-01 DOI: 10.1080/00325481.2024.2374703
Yonatan Moshkovits, Angela Chetrit, Rachel Dankner
{"title":"The association between frailty biomarkers and 20-year all-cause and cardiovascular mortality among community-dwelling older adults.","authors":"Yonatan Moshkovits, Angela Chetrit, Rachel Dankner","doi":"10.1080/00325481.2024.2374703","DOIUrl":"10.1080/00325481.2024.2374703","url":null,"abstract":"<p><strong>Objectives: </strong>While several biomarkers were previously associated with frailty and mortality, data are still contradicting. We aimed to evaluate the association between novel biomarkers and frailty among community-dwelling older adults to enhance understanding of the pathophysiology of frailty.</p><p><strong>Methods: </strong>Nine hundred and sixty-three older adults were screened during the third phase (1999-2008) of the Israel study on Glucose Intolerance, Obesity, and Hypertension (GOH). Frailty was defined as sedentary individuals, past 10 years hospitalizations, or at least one of the following: body mass index (BMI) <21 kg/m<sup>2</sup>; albumin <3.2 g/dl; ≥2 major baseline diseases. Biomarkers were evaluated for their association with frailty, all-cause, and cardiovascular mortality.</p><p><strong>Results: </strong>Mean baseline age was 72 ± 7 years, 471 (49%) were women, and 195 (20%) were classified as frail. Median follow-up for cardiovascular and all-cause mortality was 11 and 13 years, with 179 (18.6%) and 466 (48.4%) deaths recorded, respectively. Multivariable logistic regression showed greater odds for frailty with lower quartile of alanine aminotransferase (ALT) (OR = 1.8, 95%CI: 1.2-2.8, <i>p</i> = 0.01), and for each 5 µmol/L increment in homocysteine levels (OR = 1.3, 95%CI: 1.1-1.5, <i>p</i> = 0.001). Multivariate Cox regression showed greater all-cause and cardiovascular mortality risk for individuals with low ALT (HR = 1.6, 95%CI: 1.3-2.0, <i>p</i> < 0.001 and HR = 1.5, 95% CI: 1.0-2.2, <i>p</i> = 0.03, respectively), and high homocysteine (HR = 1.1, 95%CI: 1.1-1.3, <i>p</i> = 0.003 and HR = 1.2, 95%CI: 1.0-1.3, <i>p</i> = 0.04, respectively). Homocysteine association with mortality was more pronounced in those with baseline ischemic heart disease (IHD) compared with subjects free of IHD (P for interaction = 0.01).</p><p><strong>Conclusions: </strong>Lower ALT and higher homocysteine were associated with frailty, all-cause and cardiovascular mortality. These available and low-cost biomarkers underscore the nutritional and metabolic aspects of frailty when screening high-risk older adults, especially those with IHD, and may be considered as preferable screening biomarkers to be tested among these individuals for frailty and mortality risk.</p>","PeriodicalId":94176,"journal":{"name":"Postgraduate medicine","volume":" ","pages":"641-650"},"PeriodicalIF":0.0,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141474116","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Clinical trial designs of emerging therapies for diabetic kidney disease (DKD). 糖尿病肾病(DKD)新兴疗法的临床试验设计糖尿病肾病(DKD)新兴疗法的临床试验设计。
Postgraduate medicine Pub Date : 2024-08-01 Epub Date: 2024-07-24 DOI: 10.1080/00325481.2024.2377529
Ajay K Singh, Youssef M K Farag, Zihe Zheng, George L Bakris
{"title":"Clinical trial designs of emerging therapies for diabetic kidney disease (DKD).","authors":"Ajay K Singh, Youssef M K Farag, Zihe Zheng, George L Bakris","doi":"10.1080/00325481.2024.2377529","DOIUrl":"10.1080/00325481.2024.2377529","url":null,"abstract":"<p><p>Current evidence for medical therapies for diabetic kidney disease (DKD) is largely based on large-scale clinical trials. These trials, however, often exhibit heterogeneity in participant characteristics and baseline kidney function. These differences may lead to misinterpretation in clinical practice, such that treatment effects from different trials are directly compared and generalized to broader populations beyond the population in which each trial was conducted. This is particularly relevant if comparisons on efficacy and safety are made when the underlying study populations are distinctly different. Indeed, key clinical trials evaluating sodium-glucose transport protein-2 inhibitors (SGLT2i), non-steroidal mineralocorticoid receptor antagonist (nsMRA), and glucagon-like peptide-1 receptor agonist (GLP-1RA) differed in recruitment requirements (inclusion/exclusion criteria), resulting in differences in the severity of the underlying kidney disease as well as risk factor profiles. Moreover, these trials defined their primary and secondary outcomes differently. Collectively, these factors lead to distinct study populations with different baseline risks for DKD progression in the placebo arm in each clinical trial. Consequently, a direct head-to-head comparison of the treatment effect between treatments using relative risk measures from placebo-controlled clinical trials alone is not recommended. In addition, healthcare professionals should be equipped to understand the specific target population of clinical trials to avoid over-generalization when drawing conclusions from these trials.</p>","PeriodicalId":94176,"journal":{"name":"Postgraduate medicine","volume":" ","pages":"585-593"},"PeriodicalIF":0.0,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141753641","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Association between frailty status and falling in older adults with hip fracture: a cross-sectional study. 髋部骨折老年人的虚弱状态与跌倒之间的关系:一项横断面研究。
Postgraduate medicine Pub Date : 2024-08-01 Epub Date: 2024-07-27 DOI: 10.1080/00325481.2024.2384827
Lan Jiang, Lili Yang, Ziyuan Hong, Xuewei Yao
{"title":"Association between frailty status and falling in older adults with hip fracture: a cross-sectional study.","authors":"Lan Jiang, Lili Yang, Ziyuan Hong, Xuewei Yao","doi":"10.1080/00325481.2024.2384827","DOIUrl":"10.1080/00325481.2024.2384827","url":null,"abstract":"<p><strong>Objectives: </strong>There is limited research on the relationship between frailty status and falls in hip fractures in older participants. This study aimed to investigate the relationship between frailty and falls in older adults who had experienced a hip fracture.</p><p><strong>Methods: </strong>From June 2023 to January 2024, the study population comprised 253 hip fracture patients aged 60 years and over. They were admitted to the orthopedic department of a tertiary care hospital. We excluded participants with incomplete information. The 5-item FRAIL scale (Fatigue, Resistance, Ambulation, Illnesses, and Loss of Weight) was used to assess frailty status and the patient's self-reported falls. We analyzed the relationship between frailty and falls in older hip fracture patients using logistic regression models, subgroup analyses, and stratified analyses.</p><p><strong>Results: </strong>Finally, 174 older participants with hip fractures were identified in this study, where 155 (89.1%) had falls. Among 155 falls, 39 (78.0%) were in the robust group, 65 (91.5%) were in the pre-frail group, and 51 (96.2%) were in the frail group. An analysis revealed that among more than 60 years old hip fracture patients, each additional point in frailty score was significantly linked to a higher likelihood of experiencing a fall (OR: 1.97, 95% CI: 1.10-3.52, <i>p</i> < 0.05). While frailty appeared as a categorical variable, this association was stronger with an OR of 2.68 (95% CI: 0.71-10.21) in the pre-frailty group and 7.95 (95% CI: 1.11-57.08), compared to the robust group (p for trend < 0.005). In subgroup analyses, an interaction was observed between frailty and falling according to sex. In stratified analyses, the relationship between frailty status and fall significantly differed between the male and female groups (male OR: 1.49, 95% CI: 0.71 -3.13; female OR: 7.54, 95% CI: 1.13 - 50.32, p for interaction = 0.035).</p><p><strong>Conclusions: </strong>The study revealed a notable correlation between frailty and falls, with gender and frailty showing an interaction impact on the increased occurrence of falls. Therefore, further research across diverse disease populations is needed to explore the link between frailty status and falls. Large-scale prospective studies are necessary to clarify the causality of this relationship.</p><p><strong>Clinical trial registration: </strong>Chinese Clinical Trial Registry (ChiCTR2300073031).</p>","PeriodicalId":94176,"journal":{"name":"Postgraduate medicine","volume":" ","pages":"651-658"},"PeriodicalIF":0.0,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141753642","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A new perspective on OSAS cases with the Baveno classification. 用巴韦诺分类法看待 OSAS 病例的新视角。
Postgraduate medicine Pub Date : 2024-08-01 Epub Date: 2024-07-15 DOI: 10.1080/00325481.2024.2379759
Handan Inonu Koseoglu, Gökhan Aykun, Asiye Kanbay, Ahmet Cemal Pazarli, Halil İbrahim Yakar, Osman Demir
{"title":"A new perspective on OSAS cases with the Baveno classification.","authors":"Handan Inonu Koseoglu, Gökhan Aykun, Asiye Kanbay, Ahmet Cemal Pazarli, Halil İbrahim Yakar, Osman Demir","doi":"10.1080/00325481.2024.2379759","DOIUrl":"10.1080/00325481.2024.2379759","url":null,"abstract":"<p><strong>Objective/background: </strong>Since the apnea-hypopnea index (AHI), which is used in the diagnosis and grading of OSAS, does not adequately reflect the clinical perspective of the disease, the Baveno classification of OSA was developed, which allows multicomponent evaluation of OSAS patients. The aim of our study was to evaluate the application of the Baveno classification in clinical practice.</p><p><strong>Patients/methods: </strong>A prospective study was performed on patients diagnosed with OSAS between January 2021 and June 2022. Patients were divided into 4 groups according to Baveno classification (Groups A-D) and three groups as mild, moderate, and severe OSAS according to AHI.</p><p><strong>Results: </strong>A total of 378 patients (70% male, mean age 48.68 ± 11.81 years) were included in the study. The patients had mild (n: 75; 20%), moderate (n: 88; 23%), and severe (n: 215; 57%) OSAS. According to Baveno classification, patients were included in Groups A (n: 90; 24%), B (n: 105 (28%), C (n: 65; 17%), and D (n: 118; 31%). The mean AHIs of the Baveno groups were similar (<i>p</i> = 0.116). Oxygen desaturation index (ODI) was higher in Groups B and D compared to Group A. The duration of T90 desaturation was longer in Groups C and D compared to Groups A and B (<i>p</i> < 0.05).</p><p><strong>Conclusions: </strong>The Baveno classification divided our OSAS cases into equivalent groups. One out of every four patients with mild OSAS was in Group D. This data was noteworthy in that the Baveno classification allows for the identification of symptomatic and comorbid patients with mild OSAS according to AHI and for the application of more effective treatments to these patients. Patients with comorbidities experienced oxygen desaturation for a longer period of time at night, and oxygenation deteriorated in patients with prominent symptoms. Baveno classification was found to be a more reasonable and easily applicable approach in clinical practice.</p>","PeriodicalId":94176,"journal":{"name":"Postgraduate medicine","volume":" ","pages":"659-665"},"PeriodicalIF":0.0,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141592478","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Uric acid and cardiovascular diseases: a reappraisal. 尿酸与心血管疾病:重新评估。
Postgraduate medicine Pub Date : 2024-08-01 Epub Date: 2024-07-09 DOI: 10.1080/00325481.2024.2377952
Akruti Patel Prabhakar, Angel Lopez-Candales
{"title":"Uric acid and cardiovascular diseases: a reappraisal.","authors":"Akruti Patel Prabhakar, Angel Lopez-Candales","doi":"10.1080/00325481.2024.2377952","DOIUrl":"10.1080/00325481.2024.2377952","url":null,"abstract":"<p><p>Serum uric acid (SUA) has garnered an increased interest in recent years as an important determinant of cardiovascular disease. Uric acid, a degradation product of purine metabolism, is affected by several inheritable and acquired factors, such as genetic mutation, metabolic syndrome, chronic kidney disease, and medication interactions. Even though elevated SUA have been commonly associated with the development of gout, it has significant impact in the development of hypertension, metabolic syndrome, and cardiovascular disease. Uric acid, in both crystalline and soluble forms, plays a key role in the induction of inflammatory cascade and development of atherosclerotic diseases. This concise reappraisal emphasizes key features about the complex and challenging role of uric acid in the development and progression of atherosclerosis and cardiovascular disease. It explores the pathogenesis and historical significance of uric acid, highlights the complex interplay between uric acid and components of metabolic syndrome, focuses on the pro-inflammatory and pro-atherogenic effects of uric acid, as well as discusses the role of urate lowering therapies in mitigating the risk of cardiovascular disease while providing the latest evidence to the healthcare professionals focusing on the clinical importance of SUA levels with regards to cardiovascular disease.</p>","PeriodicalId":94176,"journal":{"name":"Postgraduate medicine","volume":" ","pages":"615-623"},"PeriodicalIF":0.0,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141556303","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The impact of palliative care on the frailty-stroke continuum: from theoretical concepts to practical aspects. 姑息关怀对虚弱-中风连续体的影响:从理论概念到实践方面。
Postgraduate medicine Pub Date : 2024-08-01 Epub Date: 2024-07-02 DOI: 10.1080/00325481.2024.2374701
Ioan-Alexandru Chirap-Mitulschi, Sabina Antoniu, Thomas Gabriel Schreiner
{"title":"The impact of palliative care on the frailty-stroke continuum: from theoretical concepts to practical aspects.","authors":"Ioan-Alexandru Chirap-Mitulschi, Sabina Antoniu, Thomas Gabriel Schreiner","doi":"10.1080/00325481.2024.2374701","DOIUrl":"10.1080/00325481.2024.2374701","url":null,"abstract":"<p><p>With a constant increase in prevalence and incidence worldwide, stroke remains a public health issue in the 21<sup>st</sup> century. Additionally, population aging inevitably leads to increased vulnerability in the general population, a clinical state known as frailty. While there are adequate guidelines on the treatment of stroke in the acute setting, there are a lot of gaps regarding the chronic management of stroke patients, particularly the frail ones. From the therapeutic point of view, palliative care could be the key to offering complex and individualized treatment to these frail chronic stroke patients. In the context of the heterogeneous data and incomplete therapeutic guidelines, this article provides a new and original perspective on the topic, aiming to increase awareness and understanding and improve palliative care management in stroke patients. Based on current knowledge, the authors describe a new concept called the frailty-stroke continuum and offer a detailed explanation of the intricate stroke-frailty connection in the first part. After understanding the role of palliative care in managing this kind of patients, the authors discuss the most relevant practical aspects aiming to offer an individualized framework for daily clinical practice. The novel approach consists of developing a four-step scale for characterizing frail stroke patients, with the final aim of providing personalized treatment and correctly evaluating prognosis. By pointing out the limitations of current guidelines and the challenges of new research directions, this article opens the pathway for the better evaluation of frail stroke patients, offering a better perception of patients' prognosis.</p>","PeriodicalId":94176,"journal":{"name":"Postgraduate medicine","volume":" ","pages":"624-632"},"PeriodicalIF":0.0,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141494712","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Transformations in postgraduate medical education following the COVID-19 pandemic: lessons learned from advances and challenges. COVID-19 大流行后医学研究生教育的变革:从进步和挑战中汲取的经验教训。
Postgraduate medicine Pub Date : 2024-08-01 Epub Date: 2024-07-18 DOI: 10.1080/00325481.2024.2379235
Levent Altintas, Melike Sahiner
{"title":"Transformations in postgraduate medical education following the COVID-19 pandemic: lessons learned from advances and challenges.","authors":"Levent Altintas, Melike Sahiner","doi":"10.1080/00325481.2024.2379235","DOIUrl":"10.1080/00325481.2024.2379235","url":null,"abstract":"<p><p>The COVID-19 pandemic has profoundly reshaped postgraduate medical education, driving immediate and significant adaptations in teaching methodologies and educational frameworks. This review examines the multifaceted transformations within medical education environments, particularly in response to the pandemic. Through a structured narrative review of recent literature, we identify key lessons learned and the subsequent shifts in educational practices. Our analysis underscores the critical importance of flexibility in educational delivery, the integration of technology, and the emphasis on mental health and resilience among medical trainees. We also explore the challenges and successes associated with maintaining equality and diversity in a rapidly evolving educational landscape. The findings highlight the necessity for continuous professional development and robust support systems to navigate future challenges effectively. Recommendations are provided for educational institutions to enhance adaptability, foster inclusive learning environments, and prepare for unforeseen global health emergencies. This study aims to contribute to the ongoing discourse on optimizing postgraduate medical education to better prepare health professionals for a dynamic and uncertain future.</p>","PeriodicalId":94176,"journal":{"name":"Postgraduate medicine","volume":" ","pages":"603-614"},"PeriodicalIF":0.0,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141636264","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Ibuprofen/acetaminophen fixed-dose combination as an alternative to opioids in management of common pain types. 布洛芬/对乙酰氨基酚固定剂量组合作为阿片类药物的替代品,用于治疗常见疼痛类型。
Postgraduate medicine Pub Date : 2024-08-01 Epub Date: 2024-07-27 DOI: 10.1080/00325481.2024.2382671
Pam Kushner, Bill H McCarberg, Wendy L Wright, Walid Aldoori, Peter Gao, Ahsia Iqbal, Richard Petruschke
{"title":"Ibuprofen/acetaminophen fixed-dose combination as an alternative to opioids in management of common pain types.","authors":"Pam Kushner, Bill H McCarberg, Wendy L Wright, Walid Aldoori, Peter Gao, Ahsia Iqbal, Richard Petruschke","doi":"10.1080/00325481.2024.2382671","DOIUrl":"10.1080/00325481.2024.2382671","url":null,"abstract":"<p><p>Opioids are frequently used first line to manage acute pain in a variety of settings; however, the use of nonprescription analgesics for acute pain is recognized by experts as a practical and effective opioid-sparing strategy. Variations in dosages and formulations and a lack of standardization in reporting clinical data hinder the awareness of nonprescription treatments and recommendation of their use before opioids and other prescription options. A fixed-dose combination (FDC) of two common nonprescription analgesics, ibuprofen (IBU) and acetaminophen (APAP), is an appealing alternative to opioids in acute pain settings with a range of potential benefits. This narrative review evaluates the evidence in support of IBU/APAP FDCs containing IBU (≤1200 mg/day) and APAP (≤4000 mg/day), the nonprescription maximum daily doses in Canada and the United States, as alternatives to opioids and as a means to reduce the need for rescue opioid medication in acute pain management. A literature search was performed to identify clinical studies that directly compared IBU/APAP FDCs with opioids or nonopioids and measured the need for opioid rescue therapy in acute pain. Across studies, IBU/APAP FDCs consistently demonstrated pain relief similar to or better than opioid and nonopioid comparators and reliably reduced the use of rescue opioids with fewer adverse events. Based on these data, healthcare clinicians should consider FDC nonprescription analgesics as a potential first-line option for the management of acute pain.</p>","PeriodicalId":94176,"journal":{"name":"Postgraduate medicine","volume":" ","pages":"594-602"},"PeriodicalIF":0.0,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141790687","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","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 AVPR2 gene mutation in a Chinese pedigree with nephrogenic diabetes insipidus. 一个中国肾源性糖尿病血统中的新型 AVPR2 基因突变。
Postgraduate medicine Pub Date : 2024-08-01 Epub Date: 2024-07-23 DOI: 10.1080/00325481.2024.2383555
Yangting Zhao, Kai Li, Chongyang Chen, Xiaoyu Lv, Yawen Wang, Lihua Ma, Songbo Fu, Jingfang Liu
{"title":"A novel <i>AVPR2</i> gene mutation in a Chinese pedigree with nephrogenic diabetes insipidus.","authors":"Yangting Zhao, Kai Li, Chongyang Chen, Xiaoyu Lv, Yawen Wang, Lihua Ma, Songbo Fu, Jingfang Liu","doi":"10.1080/00325481.2024.2383555","DOIUrl":"10.1080/00325481.2024.2383555","url":null,"abstract":"<p><p>Nephrogenic diabetes insipidus (NDI) is a rare genetic disorder primarily associated with mutations in the arginine vasopressin receptor 2 (<i>AVPR2</i>) gene or the aquaporin 2 (<i>AQP2</i>) gene, resulting in impaired water reabsorption in the renal tubules. This report describes a case of a young male patient with NDI from China with a history of polydipsia and polyuria for over 15 years. Laboratory examinations of the proband indicated low urine-specific gravity and osmolality. Urologic ultrasound revealed severe bilateral hydronephrosis in both kidneys, bilateral dilatation of the ureters, roughness of the bladder wall, and the formation of muscle trabeculae. The diagnosis of diabetes insipidus was confirmed by water deprivation tests. The administration of posterior pituitary hormone did not alter urine-specific gravity, and osmolality remained at a low level (<300 mOsm/kg). Based on these findings, and the genetic tests of the proband and his parents were performed. A missense mutation (c.616 G>C) in exon 3 of the <i>AVPR2</i> gene of the proband was found, caused by the substitution of amino acid valine to leucine at position 206 [p.Val206Leu], which was a hemizygous mutation and consistent with X-chromosome recessive inheritance. The administration of oral hydrochlorothiazide improves the symptoms of polydipsia and polyuria in the proband. This novel <i>AVPR2</i> gene mutation may be the main cause of NDI in this family, which induces a functional defect in <i>AVPR2</i>, and leads to reduced tubular reabsorption of water.</p>","PeriodicalId":94176,"journal":{"name":"Postgraduate medicine","volume":" ","pages":"683-690"},"PeriodicalIF":0.0,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141750109","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信