Best practice & research. Clinical endocrinology & metabolism最新文献_第8页

Meta-analysis of mortality in adults with growth hormone deficiency: Does growth hormone replacement therapy really improve mortality rates? 生长激素缺乏症成人死亡率的荟萃分析：生长激素替代疗法真的能提高死亡率吗？

IF 7.4 1区医学

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2023-12-01 DOI: 10.1016/j.beem.2023.101835

Christa C. van Bunderen (Assistant Professor in Endocrinology) , Daniel S. Olsson (Professor (adj) in Endocrinology)

{"title":"Meta-analysis of mortality in adults with growth hormone deficiency: Does growth hormone replacement therapy really improve mortality rates?","authors":"Christa C. van Bunderen (Assistant Professor in Endocrinology) , Daniel S. Olsson (Professor (adj) in Endocrinology)","doi":"10.1016/j.beem.2023.101835","DOIUrl":"10.1016/j.beem.2023.101835","url":null,"abstract":"<div>Growth hormone (GH) deficiency (GHD) is one of the most prevalent deficiencies in patients with hypopituitarism and several cohort studies have demonstrated an increased mortality risk in hypopituitary patients with a presumed GHD. The cause of the excess mortality is most likely multifactorial, including the etiology of the hypopituitarism, non-physiological replacement therapies (mostly glucocorticoid), tumor treatment and its side effects as well as untreated GHD. Several years later, other cohort studies that investigated life expectancy in patients with hypopituitarism on GH replacement therapy (GHRT) that showed a normalized mortality. By comparison of the distribution of characteristics of interest between cohorts, we discuss the existing literature to answer the following question: does growth hormone replacement really improve mortality rates in adult patients with hypopituitarism and GHD? We also conducted a meta-analysis of these studies. Since the literature suffers from selection and time bias (improvement of tumor management and other pituitary hormone replacement therapies), there is no high-quality evidence that replacement therapy for GHD really improves mortality. However, the available data does suggest that GHRT plays a significant part in the normalization of the mortality in patients with hypopituitarism.</div>","PeriodicalId":8810,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":"37 6","pages":"Article 101835"},"PeriodicalIF":7.4,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1521690X23001094/pdfft?md5=88af5ce15f3f6ff3dba0ffef74dc4876&pid=1-s2.0-S1521690X23001094-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71430140","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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

The pathophysiology of hypophosphatemia 低磷血症的病理生理学

IF 7.4 1区医学

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2023-11-30 DOI: 10.1016/j.beem.2023.101851

Nobuaki Ito (Project Lecturer in Endocrinology) , Naoko Hidaka (Senior Endocrinologist) , Hajime Kato (Assistant Professor in Endocrinology)

{"title":"The pathophysiology of hypophosphatemia","authors":"Nobuaki Ito (Project Lecturer in Endocrinology) , Naoko Hidaka (Senior Endocrinologist) , Hajime Kato (Assistant Professor in Endocrinology)","doi":"10.1016/j.beem.2023.101851","DOIUrl":"10.1016/j.beem.2023.101851","url":null,"abstract":"<div>After identification of fibroblast growth factor (FGF) 23 as the pivotal regulator of chronic serum inorganic phosphate (Pi) levels, the etiology of disorders causing hypophosphatemic rickets/osteomalacia has been clarified, and measurement of intact FGF23 serves as a potent tool for differential diagnosis of chronic hypophosphatemia. Additionally, measurement of bone-specific alkaline phosphatase (BAP) is recommended to differentiate acute and subacute hypophosphatemia from chronic hypophosphatemia. This article divides the etiology of chronic hypophosphatemia into 4 groups: A. FGF23 related, B. primary tubular dysfunction, C. disturbance of vitamin D metabolism, and D. parathyroid hormone 1 receptor (PTH1R) mediated. Each group is further divided into its inherited form and acquired form. Topics for each group are described, including “ectopic FGF23 syndrome,” “alcohol consumption-induced FGF23-related hypophosphatemia,” “anti-mitochondrial antibody associated hypophosphatemia,” and “vitamin D-dependent rickets type 3.” Finally, a flowchart for differential diagnosis of chronic hypophosphatemia is introduced.</div>","PeriodicalId":8810,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":"38 2","pages":"Article 101851"},"PeriodicalIF":7.4,"publicationDate":"2023-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138506149","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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

Inherited fibroblast growth factor 23 excess 遗传性成纤维细胞生长因子23过量。

IF 7.4 1区医学

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2023-11-28 DOI: 10.1016/j.beem.2023.101844

Kripa Elizabeth Cherian (Associate Professor), Thomas Vizhalil Paul (Professor)

{"title":"Inherited fibroblast growth factor 23 excess","authors":"Kripa Elizabeth Cherian (Associate Professor), Thomas Vizhalil Paul (Professor)","doi":"10.1016/j.beem.2023.101844","DOIUrl":"10.1016/j.beem.2023.101844","url":null,"abstract":"<div>Syndromes of inherited fibroblast growth factor 23 (FGF-23) excess encompass a wide spectrum that includes X-linked hypophosphataemia (XLH), autosomal dominant and recessive forms of rickets as well as various syndromic conditions namely fibrous dysplasia/McCune Albright syndrome, osteoglophonic dysplasia, Jansen’s chondrodysplasia and cutaneous skeletal hypophosphataemia syndrome. A careful attention to patient symptomatology, family history and clinical features, supported by appropriate laboratory tests will help in making a diagnosis. A genetic screen may be done to confirm the diagnosis. While phosphate supplements and calcitriol continue to be the cornerstone of treatment, in recent times burosumab, the monoclonal antibody against FGF-23 has been approved for the treatment of children and adults with XLH. While health-related outcomes may be improved by ensuring adherence and compliance to prescribed treatment with a smooth transition to adult care, bony deformities may persist in some, and this would warrant surgical correction.</div>","PeriodicalId":8810,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":"38 2","pages":"Article 101844"},"PeriodicalIF":7.4,"publicationDate":"2023-11-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138479814","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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

Inherited non-FGF23-mediated phosphaturic disorders: A kidney-centric review 遗传性非fgf23介导的磷酸化疾病:以肾脏为中心的综述。

IF 7.4 1区医学

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2023-11-25 DOI: 10.1016/j.beem.2023.101843

Emma Walker (Paediatrics trainee) , Wesley Hayes (Consultant Paediatric Nephrologist) , Detlef Bockenhauer (Professor and Consultant Paediatric Nephrologist)

{"title":"Inherited non-FGF23-mediated phosphaturic disorders: A kidney-centric review","authors":"Emma Walker (Paediatrics trainee) , Wesley Hayes (Consultant Paediatric Nephrologist) , Detlef Bockenhauer (Professor and Consultant Paediatric Nephrologist)","doi":"10.1016/j.beem.2023.101843","DOIUrl":"10.1016/j.beem.2023.101843","url":null,"abstract":"<div>Phosphate is freely filtered by the glomerulus and reabsorbed exclusively in the proximal tubule by two key transporters, NaPiIIA and NaPiIIC, encoded by SLC34A1 and SLC34A3, respectively. Regulation of these transporters occurs primarily through the hormone FGF23 and, to a lesser degree, PTH. Consequently, inherited non-FGF23 mediated phosphaturic disorders are due to generalised proximal tubular dysfunction, loss-of-function variants in SLC34A1 or SLC34A3 or excess PTH signalling. The corresponding disorders are Renal Fanconi Syndrome, Infantile Hypercalcaemia type 2, Hereditary Hypophosphataemic Rickets with Hypercalciuria and Familial Hyperparathyroidism. Several inherited forms of Fanconi renotubular syndrome (FRTS) have also been described with the underlying genes encoding for GATM, EHHADH, HNF4A and NDUFAF6. Here, we will review their pathophysiology, clinical manifestations and the implications for treatment from a kidney-centric perspective, focussing on those disorders caused by dysfunction of renal phosphate transporters. Moreover, we will highlight specific genetic aspects, as the availability of large population genetic databases has raised doubts about some of the originally proposed gene-disease associations concerning phosphate transporters or their associated proteins.</div>","PeriodicalId":8810,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":"38 2","pages":"Article 101843"},"PeriodicalIF":7.4,"publicationDate":"2023-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138479815","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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

Acquired disorders of phosphaturia: Beyond tumor-induced osteomalacia 后天性磷酸尿症：超越肿瘤诱发的骨软化症

IF 7.4 1区医学

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2023-11-10 DOI: 10.1016/j.beem.2023.101839

Sayali B. Thakare (Nephrologist), Tukaram E. Jamale (Nephrologist) , Saba S. Memon (Endocrinologist)

引用次数: 0

Phosphate: An underrated component of primary hyperparathyroidism 磷酸盐：原发性甲状旁腺功能亢进的一种被低估的成分。

IF 7.4 1区医学

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2023-10-31 DOI: 10.1016/j.beem.2023.101837

Sanjay Kumar Bhadada , Jayaditya Ghosh , Rimesh Pal , Soham Mukherjee

{"title":"Phosphate: An underrated component of primary hyperparathyroidism","authors":"Sanjay Kumar Bhadada , Jayaditya Ghosh , Rimesh Pal , Soham Mukherjee","doi":"10.1016/j.beem.2023.101837","DOIUrl":"10.1016/j.beem.2023.101837","url":null,"abstract":"<div>Primary hyperparathyroidism (PHPT) is a systemic disease that affects all the systems of the body, specifically the bones and the kidneys. Its main action is on calcium homeostasis. It tries to preserve the body’s calcium level at the cost of phosphate. The criteria for surgery in asymptomatic PHPT patients revolve around raised serum calcium levels, renal dysfunction or nephrolithiasis, and bone health. It does not take into account the serum phosphate levels. Depending on the serum level, Hypophosphatemia is divided into mild, moderate, and severe categories. In PHPT, several studies have suggested that asymptomatic PHPT patients with moderate hypophosphatemia may warrant surgical intervention. Treatment of hypophosphatemia in PHPT is based upon the degree of hypophosphatemia, and treatment is given according to that oral or intravenous route; after surgical and medical treatment of PHPT, phosphate levels gradually normalized. But even after these considerations, phosphate levels in PHPT are not given much importance.</div>","PeriodicalId":8810,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":"38 2","pages":"Article 101837"},"PeriodicalIF":7.4,"publicationDate":"2023-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71489894","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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

Tumor-induced osteomalacia: An overview 肿瘤引起的骨软化：综述。

IF 7.4 1区医学

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2023-10-20 DOI: 10.1016/j.beem.2023.101834

Swati Sachin Jadhav (Consultant Endocrine Oncologist) , Ravikumar Shah (Consultant Endocrinologist) , Virendra Patil (Associate Professor)

{"title":"Tumor-induced osteomalacia: An overview","authors":"Swati Sachin Jadhav (Consultant Endocrine Oncologist) , Ravikumar Shah (Consultant Endocrinologist) , Virendra Patil (Associate Professor)","doi":"10.1016/j.beem.2023.101834","DOIUrl":"10.1016/j.beem.2023.101834","url":null,"abstract":"<div>Tumor-induced osteomalacia (TIO) is rare paraneoplastic syndrome of hypophosphatemic osteomalacia, caused by phosphaturic factors secreted by small mesenchymal origin tumors with distinct pathological features, called ‘phosphaturic mesenchymal tumors’. FGF23 is the most well-characterized of the phosphaturic factors. Tumors are often small and located anywhere in the body from head to toe, which makes the localisation challenging. Functional imaging by somatostatin receptor-based PET imaging is the first line investigation, which should be followed with CT or MRI based anatomical imaging. Once localised, complete surgical excision is the treatment of choice, which brings dramatic resolution of symptoms. Medical management in the form of phosphate and active vitamin D supplements is given as a bridge to surgical management or in inoperable/non-localised patients. This review provides an overview of the epidemiology, pathophysiology, pathology, clinical features, diagnosis, and treatment of TIO, including the recent advances and directions for future research in this field.</div>","PeriodicalId":8810,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":"38 2","pages":"Article 101834"},"PeriodicalIF":7.4,"publicationDate":"2023-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71489895","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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

Burosumab: Current status and future prospects Burosumab：现状和未来前景。

IF 7.4 1区医学

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2023-09-30 DOI: 10.1016/j.beem.2023.101826

Alpesh Goyal (Assistant Professor), Nikhil Tandon (Professor and Head)

{"title":"Burosumab: Current status and future prospects","authors":"Alpesh Goyal (Assistant Professor), Nikhil Tandon (Professor and Head)","doi":"10.1016/j.beem.2023.101826","DOIUrl":"10.1016/j.beem.2023.101826","url":null,"abstract":"<div>Hypophosphatemic rickets/osteomalacia caused by FGF23 excess is conventionally treated with multiple doses of inorganic phosphate salts and active vitamin D analogs. However, conventional therapy targets the consequences of elevated FGF23 and not the elevated FGF23 itself and is associated with poor adherence and long-term complications such as nephrocalcinosis and secondary/tertiary hyperparathyroidism. Burosumab is a fully human IgG1 monoclonal antibody that binds to and neutralises FGF-23, thereby leading to improvement in phosphate homeostasis and healing of rickets and osteomalacia. Data from phase 2 and 3 trials report overall safety and efficacy and Burosumab is now FDA approved for treatment of XLH and TIO in children and adults. Cost and absence of long-term data are major issues with Burosumab which should be addressed in near future. At present, experts recommend Burosumab use in patients with severe disease or those with mild-moderate disease and a failed response to a trial of conventional therapy.</div>","PeriodicalId":8810,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":"38 2","pages":"Article 101826"},"PeriodicalIF":7.4,"publicationDate":"2023-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49686234","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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

Established and novel circulating neuroendocrine tumor biomarkers for diagnostic, predictive and prognostic use 已建立的和新的循环神经内分泌肿瘤生物标志物用于诊断、预测和预后。

IF 7.4 1区医学

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2023-09-01 DOI: 10.1016/j.beem.2023.101785

Marina Tsoli (Consultant Endocrinologist) , Anna Koumarianou (Consultant Medical Oncologist) , Anna Angelousi (Associate Professor of Internal Medicine) , Gregory Kaltsas (Professor of Endocrinology)

{"title":"Established and novel circulating neuroendocrine tumor biomarkers for diagnostic, predictive and prognostic use","authors":"Marina Tsoli (Consultant Endocrinologist) , Anna Koumarianou (Consultant Medical Oncologist) , Anna Angelousi (Associate Professor of Internal Medicine) , Gregory Kaltsas (Professor of Endocrinology)","doi":"10.1016/j.beem.2023.101785","DOIUrl":"10.1016/j.beem.2023.101785","url":null,"abstract":"<div>The management of neuroendocrine tumors (NETs) represents a clinical challenge due to heterogeneity of their clinical behaviour, molecular biology and response to treatment. Over the years, several circulating biomarkers have been developed for the early diagnosis and follow-up of NETs. The specific secretory products of tumors associated with a secretory syndrome (functioning tumors) may be used as diagnostic and/or prognostic biomarkers while the most common non-specific circulating biomarkers, that may be increased in both functioning and non-functioning tumors, are chromogranin A and the neuron specific enolase. However, the diagnostic accuracy as well as the prognostic and predictive value of these biomarkers are limited and novel techniques of multianalyte analysis of regulators of tumor biology have been developed. The NETest has been most extensively studied and proved to be useful in NET diagnosis, early detection of post-operative recurrence and prediction of response to treatment but further investigation establishing higher level of evidence is required for implementation in clinical practice.</div>","PeriodicalId":8810,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":"37 5","pages":"Article 101785"},"PeriodicalIF":7.4,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10037552","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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

Optimal surgical approach for digestive neuroendocrine neoplasia primaries: Oncological benefits versus short and long-term complications 原发性消化神经内分泌肿瘤的最佳手术入路:肿瘤获益vs短期和长期并发症。

IF 7.4 1区医学

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2023-09-01 DOI: 10.1016/j.beem.2023.101786

Kjetil Søreide , Julie Hallet , Nigel B. Jamieson , Stefan Stättner

{"title":"Optimal surgical approach for digestive neuroendocrine neoplasia primaries: Oncological benefits versus short and long-term complications","authors":"Kjetil Søreide , Julie Hallet , Nigel B. Jamieson , Stefan Stättner","doi":"10.1016/j.beem.2023.101786","DOIUrl":"10.1016/j.beem.2023.101786","url":null,"abstract":"<div>The rising incidence and the accumulating prevalence of neuroendocrine neoplasia (NEN) in the population makes this a common, prevalent and a clinically relevant disease group. Surgical resection represents the only potentially curative treatment for digestive NENs. Thus, resection should in principle be considered for all patients with NEN, although taking the patients age, relevant comorbidity, and performance status into account for operability. Patients with insulinomas, NEN of the appendix and rectal NENs are usually cured by surgery alone. However, less than a third of patients are amendable to curative surgery alone at time of diagnosis. Furthermore, recurrence is common and may occur years after primary surgery, hence the long follow-up time recommended in most NENs (>10 years). As many patients with NENs present with locoregional or metastatic disease, there is considerable debate regarding the role of debulking surgery in these settings. However, good long-term survival can be achieved in a considerable proportion of patients, with 50–70% alive up to 10 years after surgery. Location and grade are the main determinants of long-term survival. Here we present considerations to surgery for primary neuroendocrine tumors in the digestive tract.</div>","PeriodicalId":8810,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":"37 5","pages":"Article 101786"},"PeriodicalIF":7.4,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9641301","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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: 1