Pediatric endocrinology reviews : PER最新文献

Pediatric Endocrinology: A Clinical Handbook 儿科内分泌学:临床手册

4区医学

Pediatric endocrinology reviews : PER Pub Date : 2023-01-01 DOI: 10.1007/978-3-031-09512-2

D. Styne

引用次数: 4

Dysostosis Multiplex in Human Mucopolysaccharidosis Type 1 H and in Animal Models of the Disease. 人1型粘多糖病及该疾病动物模型的多重吸收不良。

4区医学

Pediatric endocrinology reviews : PER Pub Date : 2020-08-01 DOI: 10.17458/per.vol17.2020.hpl.dysostosismultiplexhumananimal

Christiane S Hampe, Lynda E Polgreen, Troy C Lund, R Scott McIvor

{"title":"Dysostosis Multiplex in Human Mucopolysaccharidosis Type 1 H and in Animal Models of the Disease.","authors":"Christiane S Hampe, Lynda E Polgreen, Troy C Lund, R Scott McIvor","doi":"10.17458/per.vol17.2020.hpl.dysostosismultiplexhumananimal","DOIUrl":"https://doi.org/10.17458/per.vol17.2020.hpl.dysostosismultiplexhumananimal","url":null,"abstract":"Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive disorder, caused by deficiency of α-L-iduronidase, and consequent accumulation of dermatan and heparan sulfates. Severity of the disease ranges from mild (Scheie) to moderate (Hurler-Scheie) to severe (Hurler or MPS-IH). A prominent clinical manifestation of MPS-IH is dysostosis multiplex, a constellation of skeletal abnormalities. We performed a retrospective review comparing manifestations of dysostosis multiplex in patients presenting with MPSIH and relevant animal models. Dog, cat and mouse models of MPS-IH are extensively studied to better understand the pathology of the disease. While all animal models display certain characteristics of human MPSIH, species-specific manifestations must be considered when evaluating skeletal abnormalities. Moreover, some skeletal abnormalities emerge at species-specific developmental stages, e.g. thoracolumbar kyphosis is an early manifestation in humans, while it appears late in the mouse model. The choice of the appropriate diagnostic test is of importance to avoid misleading conclusions.","PeriodicalId":19827,"journal":{"name":"Pediatric endocrinology reviews : PER","volume":"17 4","pages":"317-326"},"PeriodicalIF":0.0,"publicationDate":"2020-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38260619","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: 1

Use of Growth Hormone Treatment in Skeletal Dysplasia - A Review. 生长激素治疗骨骼发育不良的应用综述。

4区医学

Pediatric endocrinology reviews : PER Pub Date : 2020-08-01 DOI: 10.17458/per.vol17.2020.kc.ghtreatmentskeletaldysplasia

Inderpal Singh Kochar, Rashim Chugh

引用次数: 3

Impact of Childhood Obesity on Bone Metabolism. 儿童肥胖对骨代谢的影响。

4区医学

Pediatric endocrinology reviews : PER Pub Date : 2020-08-01 DOI: 10.17458/per.vol17.2020.sdl.childhoodobesitybonemetabolism

Maria Adelia Faleiro Santana Silva, Paula Dechichi, Pedro Henrique Justino Oliveira Limirio

引用次数: 3

Letters to the Editor: Why are Children with Klinefelter Syndrome Tall? 致编辑的信:为什么患有克氏综合症的孩子长得高?

4区医学

Pediatric endocrinology reviews : PER Pub Date : 2020-08-01 DOI: 10.17458/per.vol17.2020.lte.kml.klinefeltersyndrometall

Alma Kamar-Matias, Zvi Laron

引用次数: 0

Genetic and Environmental Factors in the Pathophysiology of Hashimoto's Thyroiditis. 桥本甲状腺炎病理生理中的遗传和环境因素。

4区医学

Pediatric endocrinology reviews : PER Pub Date : 2020-08-01 DOI: 10.17458/per.vol17.2020.gsl.geneticenvironmentalhashimoto

Maria Lucia Sur, Remus Gaga, Călin Lazăr, Cecilia Lazea

引用次数: 7

For Debate: The Two Paths of Growth Hormone (Excess and Deficiency): Both Roads Uniquely Lead to Diabetes Mellitus. 辩论:生长激素的两条途径(过量和缺乏):两条途径都是导致糖尿病的唯一途径。

4区医学

Pediatric endocrinology reviews : PER Pub Date : 2020-08-01 DOI: 10.17458/per.vol17.2020.fd.h.ghdiabetesmellius

Rohan K Henry

引用次数: 0

A Unique Presentation of XY Gonadal Dysgenesis in Frasier Syndrome due to WT1 Mutation and a Literature Review. 由WT1突变引起的弗雷泽综合征XY性腺发育不良的独特表现及文献综述。

4区医学

Pediatric endocrinology reviews : PER Pub Date : 2020-08-01 DOI: 10.17458/per.vol17.2020.lzz.xygonadalfrasiersyndromewt1mutation

Eran Lavi, Mahmud Zighan, Abdulsalam Abu Libdeh, Tehila Klopstock, Ariella Weinberg-Shukron, Pinchas Renbaum, Ephrat Levy-Lahad, David Zangen

{"title":"A Unique Presentation of XY Gonadal Dysgenesis in Frasier Syndrome due to WT1 Mutation and a Literature Review.","authors":"Eran Lavi, Mahmud Zighan, Abdulsalam Abu Libdeh, Tehila Klopstock, Ariella Weinberg-Shukron, Pinchas Renbaum, Ephrat Levy-Lahad, David Zangen","doi":"10.17458/per.vol17.2020.lzz.xygonadalfrasiersyndromewt1mutation","DOIUrl":"https://doi.org/10.17458/per.vol17.2020.lzz.xygonadalfrasiersyndromewt1mutation","url":null,"abstract":"Frasier syndrome (FS), a rare disease caused by inherited or de novo mutation in Wilm's Tumor suppressor gene 1 (WT1), is characterized by slow progressive nephropathy, XY gonadal dysgenesis (XY-DSD), and increased risk for gonadal tumors. Early childhood (1-6 years) nephropathy progresses with age to refractory nephrotic syndrome, and end-stage renal failure in late adolescence, when delayed puberty and/or primary amenorrhea are clinically evident. We report a unique case of FS presenting initially with primary amenorrhea at 16 years, without previous or concomitant renal damage. Only subsequently she developed an extremely late-onset nephropathy. Genetic analysis revealed the IVS9 + 5 G>A mutation in intron 9 of the WT1 gene. This clinical presentation and review of WT1 literature highlights the importance of considering FS in the differential diagnosis of patients with 46,XY disorders of Sexual development, even without nephropathy. Furthermore, the identification WT1 gene mutation prior to evident renal dysfunction indicates an immediate and close surveillance of renal function enabling an optimal and timely medical response.","PeriodicalId":19827,"journal":{"name":"Pediatric endocrinology reviews : PER","volume":"17 4","pages":"302-307"},"PeriodicalIF":0.0,"publicationDate":"2020-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38260617","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: 2

For Debate: The Controversy whether Rotavirus Vaccination Attenuates the Incidence of Childhood Type 1 Diabetes. 辩论:轮状病毒疫苗接种是否能降低儿童1型糖尿病发病率的争议。

4区医学

Pediatric endocrinology reviews : PER Pub Date : 2020-08-01 DOI: 10.17458/per.vol17.2020.fd.lbh.rotavirustype1diabetes

Orit Blumenfeld, Christiane S Hampe, Lester Shulman, Rony Chen, Zvi Laron

引用次数: 2

The Many Facets of Vitamin D in the Pediatric Population. 儿童人群中维生素D的多个方面。

4区医学

Pediatric endocrinology reviews : PER Pub Date : 2020-08-01 DOI: 10.17458/per.vol17.2020.srb.vitamindpediatricpopulation

Mirjam Ea Scheffer-Rath, Annemieke M Boot

{"title":"The Many Facets of Vitamin D in the Pediatric Population.","authors":"Mirjam Ea Scheffer-Rath, Annemieke M Boot","doi":"10.17458/per.vol17.2020.srb.vitamindpediatricpopulation","DOIUrl":"https://doi.org/10.17458/per.vol17.2020.srb.vitamindpediatricpopulation","url":null,"abstract":"Vitamin D is important for skeletal growth, bone mineralization and dental health. Vitamin D deficiency is reported in many countries, may have several causes and can cause rickets in children. A guideline with recommendations of vitamin D supplementation to prevent nutritional rickets was published recently. The vitamin D receptor is present in many cells of the body including cells of the immune system. Many studies have been published on associations between vitamin D deficiency and extra skeletal effects, mainly without proof of causality in intervention studies. This review aims to summarize available evidence of the skeletal and extra-skeletal effects of vitamin D. For the extra-skeletal effects there is proof that vitamin D supplementation can prevent acute respiratory infections in children with vitamin D deficiency and can reduce the rate of asthma exacerbations requiring corticosteroids in children with vitamin D deficiency. The evidence of benefit of vitamin D supplementation is too limited for pediatric patients with other infectious, inflammatory, and autoimmune diseases.","PeriodicalId":19827,"journal":{"name":"Pediatric endocrinology reviews : PER","volume":"17 4","pages":"293-301"},"PeriodicalIF":0.0,"publicationDate":"2020-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38260616","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: 2