Clinical Pediatric Endocrinology最新文献_第7页

The long-term management of congenital generalized lipodystrophy (Berardinelli-Seip syndrome): the clinical manifestations of Japanese siblings for approximately 20 years 先天性广泛性脂肪营养不良（Berardinelli-Seip综合征）的长期治疗：日本兄弟姐妹约20年的临床表现

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2019-10-19 DOI: 10.1297/cpe.28.139

Miwako Maeda, T. Maeda, Ken Ebihara, K. Ihara

引用次数: 7

Novel AVPR2 variant in a male infant with nephrogenic diabetes insipidus who showed delayed head control 一名患有肾源性尿崩症的男婴出现头部控制延迟的AVPR2变异

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2019-10-19 DOI: 10.1297/cpe.28.155

Kosei Hasegawa, Hiromi Ihoriya, Natsuko Futagawa, Y. Higuchi, Hiroki Tsuchiya, Takashi Shibata, Yumiko Hayashi, Katsuhiro Kobayashi, H. Tsukahara

引用次数: 0

MIRAGE syndrome with recurrent pneumonia probably associated with gastroesophageal reflux and achalasia: A case report MIRAGE综合征合并复发性肺炎可能与胃食管反流和贲门失弛缓症相关：一例报告

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2019-10-19 DOI: 10.1297/cpe.28.147

K. Yoshizaki, R. Hachiya, Yutaro Tomobe, Uiko Kaku, K. Akiba, H. Shima, S. Narumi, Y. Hasegawa

引用次数: 6

Levothyroxine dosages less than 2.4 μg/kg/day at 1 year and 1.3 μg/kg/day at 3 years of age may predict transient congenital hypothyroidism 1岁时左旋甲状腺素剂量低于2.4 μg/kg/天，3岁时低于1.3 μg/kg/天可预测一过性先天性甲状腺功能减退

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2019-10-19 DOI: 10.1297/cpe.28.127

S. Higuchi, Y. Hasegawa

引用次数: 10

Uterus in mixed gonadal dysgenesis was detected by continuous irregular vaginal bleeding 混合性腺发育不全的子宫是通过持续不规则阴道出血检测到的

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2019-10-19 DOI: 10.1297/cpe.28.135

Tsuyoshi Nishibukuro, Junko Igaki-Miyamoto, Y. Hasegawa

引用次数: 0

Autosomal dominant Hashimoto’s thyroiditis with a mutation in TNFAIP3 TNFAIP3突变的常染色体显性桥本甲状腺炎

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2019-07-20 DOI: 10.1297/cpe.28.91

Tomohiro Hori, H. Ohnishi, Tomonori Kadowaki, N. Kawamoto, H. Matsumoto, O. Ohara, T. Fukao

引用次数: 7

Immune checkpoint inhibitor therapy for pediatric cancers: A mini review of endocrine adverse events 免疫检查点抑制剂治疗儿童癌症:内分泌不良事件的小回顾

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2019-07-20 DOI: 10.1297/cpe.28.59

K. Ihara

{"title":"Immune checkpoint inhibitor therapy for pediatric cancers: A mini review of endocrine adverse events","authors":"K. Ihara","doi":"10.1297/cpe.28.59","DOIUrl":"https://doi.org/10.1297/cpe.28.59","url":null,"abstract":"Abstract. In recent years, immune checkpoint inhibitor therapy has attracted a great deal of attention in the field of cancer treatment. In the clinical setting, antibodies targeting programmed cell death-1 (PD-1) and cytotoxic T-lymphocyte-associated protein 4 (CTLA-4) have been successfully used to treat adult patients with various types of intractable cancer. However, in a substantial number of patients, ICI therapy is associated with autoimmune toxicities known as immune-related adverse events (IRAEs). Endocrinopathies, such as hypophysitis or autoimmune thyroid disease, may occur and can present unique clinical features that have not been documented with traditional chemotherapies. A Japanese clinical trial evaluating the anti-PD-1 antibody nivolumab for the treatment of pediatric patients with refractory malignant solid tumors and Hodgkin lymphoma has been ongoing since 2017. Moreover, tumors associated with Lynch syndrome, a hereditary form of mismatch repair deficiency, are being focused and represent the next target for ICI therapy in Japan. For the safe management of pediatric cancer patients treated with ICIs, pediatric endocrinologists must be aware of the risk of autoimmune endocrinopathies and perform relevant screening tests at appropriate stages of growth and development.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"28 1","pages":"59 - 68"},"PeriodicalIF":1.4,"publicationDate":"2019-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1297/cpe.28.59","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43622516","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: 15

Identifying a risk score for childhood obesity based on predictors identified in pregnant women and 1-year-old infants: An analysis of the data of the Hokkaido Study on Environment and Children’s Health 根据孕妇和1岁婴儿确定的预测因素确定儿童肥胖风险评分:对北海道环境与儿童健康研究数据的分析

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2019-07-20 DOI: 10.1297/cpe.28.81

Y. Saijo, Y. Ito, E. Yoshioka, Yukihiro Sato, Machiko Minatoya, A. Araki, C. Miyashita, R. Kishi

{"title":"Identifying a risk score for childhood obesity based on predictors identified in pregnant women and 1-year-old infants: An analysis of the data of the Hokkaido Study on Environment and Children’s Health","authors":"Y. Saijo, Y. Ito, E. Yoshioka, Yukihiro Sato, Machiko Minatoya, A. Araki, C. Miyashita, R. Kishi","doi":"10.1297/cpe.28.81","DOIUrl":"https://doi.org/10.1297/cpe.28.81","url":null,"abstract":"Abstract. This study aimed to construct a childhood obesity risk index based on predictors identified in pregnant women and 1-yr-old infants. The primary outcome was an identified obesity index of > 20% at 6–8 yr of age. Of a total sample size of 6,846 mother-child pairs, 80% and 20% were randomly allocated to the derivation and validation cohorts, respectively. For the derivation cohort, univariate and multivariate logistic regression analyses of data were conducted to identify the final predictors to determine the childhood obesity risk score algorithm. These included pre-pregnancy body mass index (BMI), child’s gender, smoking during pregnancy, education, and obesity index at one yr of age. The β coefficients for categories of predictor variables were each divided by the smallest value among them. The quotient was rounded off to the integer and assigned to the risk score, and a value of zero was assigned to reference categories. A total risk score was calculated for each individual. A cutoff point ≥ 16 had 22.2% and 21.8% positive predictive values in the derivation and validation cohorts, respectively. In conclusion, the childhood obesity risk score algorithm was constructed based on generic predictors that can be easily obtained from maternal and child health handbooks.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"28 1","pages":"81 - 89"},"PeriodicalIF":1.4,"publicationDate":"2019-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1297/cpe.28.81","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42540769","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: 4

Recent advances in research on isolated congenital central hypothyroidism 孤立性先天性中枢性甲状腺功能减退症的研究进展

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2019-07-20 DOI: 10.1297/cpe.28.69

T. Tajima, A. Nakamura, Makiko Oguma, Masayo Yamazaki

{"title":"Recent advances in research on isolated congenital central hypothyroidism","authors":"T. Tajima, A. Nakamura, Makiko Oguma, Masayo Yamazaki","doi":"10.1297/cpe.28.69","DOIUrl":"https://doi.org/10.1297/cpe.28.69","url":null,"abstract":"Abstract. Congenital central hypothyroidism (C-CH) is caused by defects in the secretion of thyrotropin-releasing hormone (TRH) and/or TSH, leading to an impairment in the release of hormones from the thyroid. The causes of C-CH include congenital anomalies of the hypothalamic-pituitary regions and several genetic defects. In terms of endocrinology, C-CH is divided into two categories: (1) accompanied by another pituitary hormone deficiency and called combined pituitary hormone deficiency, and (2) isolated C-CH, showing mainly TSH deficiency. For isolated C-CH, a mutation in the TSH gene (TSHB) encoding the β-subunit of the protein was first found in 1990 by Japanese researchers, and thereafter several mutations in TSHB have been reported. Mutations in the thyrotropin-releasing hormone receptor gene (TRHR), as well as genetic defects in immunoglobulin superfamily 1 (IGSF1), have also been identified. It was recently found that isolated C-CH is caused by mutations in transducin β-like 1 X-linked and insulin receptor substrate 4. It is noted that all patients with TSHB deficiency and some with IGSF1 deficiency show severe hypothyroidism soon after birth. Among the causes of C-CH, high frequency of mutations in IGSF1 is the most prevalent. This review focuses on recent findings on isolated C-CH.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"28 1","pages":"69 - 79"},"PeriodicalIF":1.4,"publicationDate":"2019-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1297/cpe.28.69","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47047390","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: 7

Prediction and prevention of type 1 diabetes in children 儿童1型糖尿病的预测与预防

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2019-07-20 DOI: 10.1297/cpe.28.43

F. Chiarelli, C. Giannini, M. Primavera

{"title":"Prediction and prevention of type 1 diabetes in children","authors":"F. Chiarelli, C. Giannini, M. Primavera","doi":"10.1297/cpe.28.43","DOIUrl":"https://doi.org/10.1297/cpe.28.43","url":null,"abstract":"Abstract. Type 1 diabetes (T1D) is a chronic T-cell mediated autoimmune disease characterized by destruction of beta cells. Although new data have better defined the complex etiology underling the interrelation of genetic and environmental factors in the natural history of T1D, relevant pieces of the puzzle still are missing. Genetic predisposition is mainly associated to some histocompatibility leukocyte antigen (HLA) alleles; however, recent data suggest that new as well as still unknown genes might better define the complex multigenetic risk of the disease. In addition to the genetic effects, the concordance in familial aggregation in T1D indicates a pivotal role of environmental factors in the course of the disease, facilitating autoantibodies production. JDRF has recently proposed a new early stage of T1D according to which the detection of two or more autoantibodies in the blood, might describe those children at increased risk of developing T1D during the following years. In contrast to the improvements reached by prediction models, to date primary, secondary and tertiary prevention have still failed to achieve a safe and efficacious intervention strategies. Anyway, the most recent progresses in this field pave the way for future studies, with the aim of preventing T1D in children.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"28 1","pages":"43 - 57"},"PeriodicalIF":1.4,"publicationDate":"2019-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1297/cpe.28.43","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44869569","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: 10