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Artificial intelligence in paediatric endocrinology: conflict or cooperation. 儿科内分泌学中的人工智能：冲突还是合作。
IF 1.4 4区 医学
Journal of Pediatric Endocrinology & Metabolism Pub Date : 2024-01-08 Print Date: 2024-03-25 DOI: 10.1515/jpem-2023-0554
Paul Dimitri, Martin O Savage
{"title":"Artificial intelligence in paediatric endocrinology: conflict or cooperation.","authors":"Paul Dimitri, Martin O Savage","doi":"10.1515/jpem-2023-0554","DOIUrl":"10.1515/jpem-2023-0554","url":null,"abstract":"<p><p>Artificial intelligence (AI) in medicine is transforming healthcare by automating system tasks, assisting in diagnostics, predicting patient outcomes and personalising patient care, founded on the ability to analyse vast datasets. In paediatric endocrinology, AI has been developed for diabetes, for insulin dose adjustment, detection of hypoglycaemia and retinopathy screening; bone age assessment and thyroid nodule screening; the identification of growth disorders; the diagnosis of precocious puberty; and the use of facial recognition algorithms in conditions such as Cushing syndrome, acromegaly, congenital adrenal hyperplasia and Turner syndrome. AI can also predict those most at risk from childhood obesity by stratifying future interventions to modify lifestyle. AI will facilitate personalised healthcare by integrating data from 'omics' analysis, lifestyle tracking, medical history, laboratory and imaging, therapy response and treatment adherence from multiple sources. As data acquisition and processing becomes fundamental, data privacy and protecting children's health data is crucial. Minimising algorithmic bias generated by AI analysis for rare conditions seen in paediatric endocrinology is an important determinant of AI validity in clinical practice. AI cannot create the patient-doctor relationship or assess the wider holistic determinants of care. Children have individual needs and vulnerabilities and are considered in the context of family relationships and dynamics. Importantly, whilst AI provides value through augmenting efficiency and accuracy, it must not be used to replace clinical skills.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"209-221"},"PeriodicalIF":1.4,"publicationDate":"2024-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139111322","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
Outcomes and experiences of adults with congenital hypogonadism can inform improvements in the management of delayed puberty. 成人先天性性腺功能减退症的结局和经验可以改善青春期延迟的管理。
IF 1.4 4区 医学
Journal of Pediatric Endocrinology & Metabolism Pub Date : 2023-11-24 Print Date: 2024-01-29 DOI: 10.1515/jpem-2023-0407
Sasha R Howard, Richard Quinton
{"title":"Outcomes and experiences of adults with congenital hypogonadism can inform improvements in the management of delayed puberty.","authors":"Sasha R Howard, Richard Quinton","doi":"10.1515/jpem-2023-0407","DOIUrl":"10.1515/jpem-2023-0407","url":null,"abstract":"<p><p>Patients with congenital hypogonadism will encounter many health care professionals during their lives managing their health needs; from antenatal and infantile periods, through childhood and adolescence, into adult life and then old age. The pubertal transition from childhood to adult life raises particular challenges for diagnosis, therapy and psychological support, and patients encounter many pitfalls. Many patients with congenital hypogonadism and delayed or absent puberty are only diagnosed and treated after long diagnostic journeys, and their management across different centres and countries is not well standardised. Here we reconsider the management of pubertal delay, whilst addressing problematic diagnostic issues and highlighting the limitations of historic pubertal induction protocols - from the perspective of both an adult and a paediatric endocrinologist, dealing in our everyday work with the long-term adverse consequences to our hypogonadal patients of an incorrect and/or late diagnosis and treatment in childhood.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"1-7"},"PeriodicalIF":1.4,"publicationDate":"2023-11-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10775020/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138300441","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Very elevated serum copeptin concentrations occur in a subset of healthy children in the minutes after phlebotomy. 血copeptin浓度升高发生在一小部分健康儿童在放血后的几分钟内。
IF 1.3 4区 医学
Journal of Pediatric Endocrinology & Metabolism Pub Date : 2023-11-23 Print Date: 2024-01-29 DOI: 10.1515/jpem-2023-0390
Shruti Sastry, Christine A March, Michael J McPhaul, Luigi R Garibaldi
{"title":"Very elevated serum copeptin concentrations occur in a subset of healthy children in the minutes after phlebotomy.","authors":"Shruti Sastry, Christine A March, Michael J McPhaul, Luigi R Garibaldi","doi":"10.1515/jpem-2023-0390","DOIUrl":"10.1515/jpem-2023-0390","url":null,"abstract":"<p><strong>Objectives: </strong>Although AVP and its surrogate, copeptin, are mainly regulated by osmotic and volume stimuli, their secretion is also elicited by stress and growth hormone (GH) stimulating agents. The aim of this report is to describe unusual patterns of copeptin response in a subset of children undergoing GH stimulation tests (GH-ST).</p><p><strong>Methods: </strong>We conducted a secondary analysis of a cohort of 93 healthy short children with no polydipsia, polyuria or fluid/electrolyte abnormalities, undergoing GH-ST with intravenous arginine, insulin, oral clonidine, or L-Dopa/carbidopa in various combinations. Serum copeptin concentrations were measured 1-3 min after phlebotomy (0 min) and at 60, 90, 120 min during GH-ST.</p><p><strong>Results: </strong>In 85 subjects (normal response group, NRG) serum copeptin concentrations increased from a 0 min median of 9 pmol/L (IQR 6, 11.5) (all values ≤21) to a median peak between 60 and 120 min of 22 (IQR15, 38) pmol/L, which varied depending on the stimulating agent. Conversely, in the eight outliers, copeptin concentrations decreased gradually from a median of 154 (IQR 61, 439) pmol/L (all ≥40 pmol/L) to values as low as 14 % of the basal value, by 120 min. Test-associated anxiety was described in 17 subjects in the NRG (20 %) and five of the outliers (63 %).</p><p><strong>Conclusions: </strong>A distinctive pattern of very elevated serum copeptin concentrations occurred in 9 % of children undergoing GH-ST, similar to reports in previous pediatric studies. Etiology may include pain or stress of phlebotomy. This phenomenon should be recognized for proper interpretation of copeptin values in children.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"8-14"},"PeriodicalIF":1.3,"publicationDate":"2023-11-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10919260/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138292237","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Features of liver injury in 138 Chinese patients with NICCD. 138例NICCD患者肝损伤特点分析。
IF 1.4 4区 医学
Journal of Pediatric Endocrinology & Metabolism Pub Date : 2023-11-10 Print Date: 2023-12-15 DOI: 10.1515/jpem-2023-0026
MinYan Jiang, MinZhi Peng, ZhiKun Lu, YongXian Shao, ZongCai Liu, XiuZhen Li, YunTing Lin, Li Liu, Wen Zhang, YanNa Cai
{"title":"Features of liver injury in 138 Chinese patients with NICCD.","authors":"MinYan Jiang, MinZhi Peng, ZhiKun Lu, YongXian Shao, ZongCai Liu, XiuZhen Li, YunTing Lin, Li Liu, Wen Zhang, YanNa Cai","doi":"10.1515/jpem-2023-0026","DOIUrl":"10.1515/jpem-2023-0026","url":null,"abstract":"<p><strong>Objectives: </strong>To find biochemical and molecular markers can assist in identifying serious liver damage of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) patients.</p><p><strong>Methods: </strong>138 patients under 13 days to 1.1 year old diagnosed of NICCD in our center from 2004 to 2020. Base on the abnormal liver laboratory tests, we divided 138 patients into three groups: acute liver failure (ALF), liver dysfunction, and non-liver dysfunction groups, then compared their clinical, biochemical and, molecular data.</p><p><strong>Results: </strong>96 % of 138 patients had high levels of citrulline and high ratio of threonine to serine, which is the distinctive feature of plasma amino acid profile for NICCD. A total of 18.1 % of 138 patients had evidence of ALF who presented the most severity hepatic damage, 51.5 % had liver dysfunction, and the remaining 30.4 % presented mild clinical symptoms (non-liver dysfunction). In ALF group, the levels of citrulline, tyrosine, TBIL, ALP, and γ-GT was significantly elevated, and the level of ALB and Fisher ratio was pronounced low. Homozygous mutations of 1,638_1660dup, IVS6+5G.A, or IVS16ins3kb in <i>SLC25A13</i> gene were only found in ALF and liver dysfunction groups. Supportive treatment including medium-chain triglyceride supplemented diet and fresh frozen plasma could be life-saving and might reverse ALF.</p><p><strong>Conclusions: </strong>High level of citrulline, tyrosine, TBIL, ALP, γ-GT, and ammonia, low level of albumin, and low Fisher ratio were predictors to suggest severe liver damage in NICCD patients who may go on to develop fatal metabolic disorder. Early identification and proper therapy is particularly important for these patients.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"1154-1160"},"PeriodicalIF":1.4,"publicationDate":"2023-11-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71523241","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
Effect of Carbamezapine and Valproic Acid on Bone Mineral Density, IGF-I and IGFBP-3. 卡巴米氮平和丙戊酸对骨矿密度、IGF-I 和 IGFBP-3 的影响
IF 1.3 4区 医学
Journal of Pediatric Endocrinology & Metabolism Pub Date : 2023-11-02 Print Date: 2006-04-01 DOI: 10.1515/jpem-2006-190411
Sefer Kumandas, Esad Koklu, Hakan Gümüs, Selmin Koklu, Selim Kurtoglu, Musa Karakukcu, Mehmet Keskin
{"title":"Effect of Carbamezapine and Valproic Acid on Bone Mineral Density, IGF-I and IGFBP-3.","authors":"Sefer Kumandas, Esad Koklu, Hakan Gümüs, Selmin Koklu, Selim Kurtoglu, Musa Karakukcu, Mehmet Keskin","doi":"10.1515/jpem-2006-190411","DOIUrl":"10.1515/jpem-2006-190411","url":null,"abstract":"","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":"19 4","pages":"529-534"},"PeriodicalIF":1.3,"publicationDate":"2023-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140923480","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
The Growing Child with Thalassaemia. 地中海贫血症儿童的成长。
IF 1.3 4区 医学
Journal of Pediatric Endocrinology & Metabolism Pub Date : 2023-11-02 Print Date: 2006-04-01 DOI: 10.1515/jpem-2006-190403
Nicos Skordis
{"title":"The Growing Child with Thalassaemia.","authors":"Nicos Skordis","doi":"10.1515/jpem-2006-190403","DOIUrl":"10.1515/jpem-2006-190403","url":null,"abstract":"","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":"19 4","pages":"467-470"},"PeriodicalIF":1.3,"publicationDate":"2023-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140923609","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
Congenital Combined Pituitary Hormone Deficiency Attributable to a Novel PROP1 Mutation (467insT). 一种新的PROP1突变引起的先天性联合垂体激素缺乏症（467insT）。
IF 1.4 4区 医学
Journal of Pediatric Endocrinology & Metabolism Pub Date : 2023-11-02 Print Date: 2006-04-01 DOI: 10.1515/jpem-2006-190406
O Nose, K Tatsumi, Y Nakano, N Amino
{"title":"Congenital Combined Pituitary Hormone Deficiency Attributable to a Novel PROP1 Mutation (467insT).","authors":"O Nose, K Tatsumi, Y Nakano, N Amino","doi":"10.1515/jpem-2006-190406","DOIUrl":"10.1515/jpem-2006-190406","url":null,"abstract":"","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":"19 4","pages":"491-498"},"PeriodicalIF":1.4,"publicationDate":"2023-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71428541","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
Effect of Carbamezapine and Valproic Acid on Bone Mineral Density, IGF-I and IGFBP-3. 卡马西平和丙戊酸对骨密度、IGF-I和IGFBP-3的影响。
IF 1.4 4区 医学
Journal of Pediatric Endocrinology & Metabolism Pub Date : 2023-11-02 Print Date: 2006-04-01 DOI: 10.1515/jpem-2006-190411
Sefer Kumandas, Esad Koklu, Hakan Gümüs, Selmin Koklu, Selim Kurtoglu, Musa Karakukcu, Mehmet Keskin
{"title":"Effect of Carbamezapine and Valproic Acid on Bone Mineral Density, IGF-I and IGFBP-3.","authors":"Sefer Kumandas, Esad Koklu, Hakan Gümüs, Selmin Koklu, Selim Kurtoglu, Musa Karakukcu, Mehmet Keskin","doi":"10.1515/jpem-2006-190411","DOIUrl":"10.1515/jpem-2006-190411","url":null,"abstract":"","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":"19 4","pages":"529-534"},"PeriodicalIF":1.4,"publicationDate":"2023-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71428557","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
Worster-Drought Syndrome (Congenital Bilateral Perisylvian Syndrome) with Posterior Pituitary Ectopia, Pituitary Hypoplasia, Empty Sella and Panhypopituitarism: A Patient Report. Worster Dry综合征（先天性双侧侧脑室周围综合征）伴后垂体异位、垂体发育不良、Sella排空和垂体全功能减退：一例患者报告。
IF 1.4 4区 医学
Journal of Pediatric Endocrinology & Metabolism Pub Date : 2023-11-02 Print Date: 2006-04-01 DOI: 10.1515/jpem-2006-190412
Firdevs Baş, Feyza Darendeliler, Zuhal Zuhal Yapici, Selman Gokalp, Rüveyde Bundak, Nurçin Saka, Hülya Günöz
{"title":"Worster-Drought Syndrome (Congenital Bilateral Perisylvian Syndrome) with Posterior Pituitary Ectopia, Pituitary Hypoplasia, Empty Sella and Panhypopituitarism: A Patient Report.","authors":"Firdevs Baş, Feyza Darendeliler, Zuhal Zuhal Yapici, Selman Gokalp, Rüveyde Bundak, Nurçin Saka, Hülya Günöz","doi":"10.1515/jpem-2006-190412","DOIUrl":"10.1515/jpem-2006-190412","url":null,"abstract":"","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":"19 4","pages":"535-540"},"PeriodicalIF":1.4,"publicationDate":"2023-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71428566","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
Growth Hormone and Premature Atherosclerosis in Childhood Obesity. 生长激素与儿童肥胖症早期动脉粥样硬化。
IF 1.4 4区 医学
Journal of Pediatric Endocrinology & Metabolism Pub Date : 2023-11-02 Print Date: 2006-04-01 DOI: 10.1515/jpem-2006-190402
Margarita Smotkin-Tangorra, Henry Anhalt, Svetlana Ten
{"title":"Growth Hormone and Premature Atherosclerosis in Childhood Obesity.","authors":"Margarita Smotkin-Tangorra, Henry Anhalt, Svetlana Ten","doi":"10.1515/jpem-2006-190402","DOIUrl":"10.1515/jpem-2006-190402","url":null,"abstract":"","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":"19 4","pages":"455-466"},"PeriodicalIF":1.4,"publicationDate":"2023-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71428559","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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