Endocrine journal最新文献_第4页

Initial validation of the clinical significance of the NETest in Japanese gastroenteropancreatic neuroendocrine tumor patients 日本胃肠胰神经内分泌肿瘤患者NETest临床意义的初步验证

IF 2 4区医学

Endocrine journal Pub Date : 2024-07-26 DOI: 10.1507/endocrj.ej24-0090

Hao Zhang, Takahiro Tsuchikawa, Satoshi Takeuchi, Kenji Hirata, Kimitaka Tanaka, Aya Matsui, Yoshitsugu Nakanishi, Toshimichi Asano, Takehiro Noji, Toru Nakamura, Shintaro Takeuchi, Masataka Wada, Satoshi Hirano

引用次数: 0

Characteristic external genitalia in male neonates with 5α-reductase deficiency. 患有 5α 还原酶缺乏症的男性新生儿的特征性外生殖器。

IF 1.3 4区医学

Endocrine journal Pub Date : 2024-07-25 DOI: 10.1507/endocrj.EJ23-0740

Takeshi Munenaga, Yosuke Ichihashi, Satsuki Nakano, Hironori Shibata, Takeshi Sato, Hiroshi Asanuma, Keiko Homma, Tomonobu Hasegawa, Tomohiro Ishii

{"title":"Characteristic external genitalia in male neonates with 5α-reductase deficiency.","authors":"Takeshi Munenaga, Yosuke Ichihashi, Satsuki Nakano, Hironori Shibata, Takeshi Sato, Hiroshi Asanuma, Keiko Homma, Tomonobu Hasegawa, Tomohiro Ishii","doi":"10.1507/endocrj.EJ23-0740","DOIUrl":"https://doi.org/10.1507/endocrj.EJ23-0740","url":null,"abstract":"There have been no reports comparing neonatal external genitalia of 5α-reductase deficiency (5αRD) with those of other 46,XY differences of sex differentiation (DSD). This study enrolled 31 Japanese cases of 46,XY DSD whose external genitalia was examined during the neonatal period; four were diagnosed as 5αRD and 15 were defined as non-5αRD by genetic analysis of SRD5A2 or urinary steroid metabolites. We compared the following characteristics between 5αRD and non-5αRD groups, adjusting the severity of undermasculinization of the external genitalia: stretched penile length (SPL), glans width, location of the external urethral opening, and proportion of undescended testis. The external genitalia of all the 5αRD cases were Quigley classification grade 2 or 3. We compared the phenotypes between the four 5αRD cases and 11 non-5αRD cases with grade 2 or 3. The median (range) of SPL in the 5αRD group (14 mm [11-16]) was significantly lower than that in the non-5αRD group (22 mm [15-29]) (p = 0.003). An SPL cut-off value of <15 mm yielded a sensitivity of 50% (95% confidence interval [CI]; 7-93%) and specificity of 100% (95% CI, 72-100%) for discriminating between the groups. The median glans width, location of the external urethral opening, and proportion of undescended testis were not significantly different between the groups. The SPL of 5αRD in Quigley classification grade 2 or 3 was significantly shorter than that of other 46,XY DSDs with the equivalent grade.","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141757834","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

Association between COVID-19 severity and relatively high serum adiponectin levels at the time of admission. COVID-19 严重程度与入院时血清中相对较高的脂肪生成素水平之间的关系。

IF 1.3 4区医学

Endocrine journal Pub Date : 2024-07-12 Epub Date: 2024-05-10 DOI: 10.1507/endocrj.EJ24-0072

Ryohei Mineo, Shiro Fukuda, Shigehito Suzuki, Yoshito Ito, Sachiko Tamba, Takuya Sugiyama, Yuya Fujishima, Hitoshi Nishizawa, Iichiro Shimomura, Koji Yamamoto, Yuji Matsuzawa

{"title":"Association between COVID-19 severity and relatively high serum adiponectin levels at the time of admission.","authors":"Ryohei Mineo, Shiro Fukuda, Shigehito Suzuki, Yoshito Ito, Sachiko Tamba, Takuya Sugiyama, Yuya Fujishima, Hitoshi Nishizawa, Iichiro Shimomura, Koji Yamamoto, Yuji Matsuzawa","doi":"10.1507/endocrj.EJ24-0072","DOIUrl":"10.1507/endocrj.EJ24-0072","url":null,"abstract":"At the beginning of 2020, coronavirus disease 2019 (COVID-19) caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) led to epidemics worldwide. Obesity and visceral fat accumulation have been reported to be independent risk factors for severe COVID-19. Several reports have focused on the levels of adipocytokines/adipokines, including adiponectin (APN), which is exclusively secreted from adipocytes, although the importance of these factors in acute disease conditions remains unclear. Therefore, we investigated the relationship between serum adiponectin levels and COVID-19 severity. Patients with COVID-19 who were admitted to Sumitomo Hospital (Osaka, Japan) from May through October 2021 were included. A total of 107 patients were enrolled in this study. We obtained the anthropometric and clinical laboratory data of the patients at the time of admission and examined the associations between various parameters and COVID-19 severity. The mean period from onset to admission was 6.5 ± 2.8 days. We divided the patients into \"non-severe\" (mild, moderate-I and moderate-II) (n = 80) and \"severe\" (n = 27) groups. The \"severe\" patients were significantly older than \"non-severe\" patients. Additionally, no significant differences were observed in BMI, sex, or the period from onset to admission. The serum adiponectin levels of \"severe\" patients at the time of admission were significantly greater than those of \"non-severe\" patients even after adjusting for age, sex, and BMI. These results suggest that the serum APN levels at the time of admission can predict COVID-19 severity. However, further investigations on the changes in APN levels in acute diseases are needed.","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140911637","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

Pembrolizumab with external radiation therapy effectively controlled TMB-high unresectable recurrent parathyroid cancer: a case report with review of literature. Pembrolizumab联合外放射治疗有效控制了TMB高的不可切除复发性甲状旁腺癌：病例报告与文献综述。

IF 1.3 4区医学

Endocrine journal Pub Date : 2024-07-10 DOI: 10.1507/endocrj.EJ24-0126

Hiroshi Katoh, Tomoya Mitsuma, Riku Okamoto, Kanako Naito, Takaaki Tokito, Mariko Kikuchi, Takafumi Sangai

{"title":"Pembrolizumab with external radiation therapy effectively controlled TMB-high unresectable recurrent parathyroid cancer: a case report with review of literature.","authors":"Hiroshi Katoh, Tomoya Mitsuma, Riku Okamoto, Kanako Naito, Takaaki Tokito, Mariko Kikuchi, Takafumi Sangai","doi":"10.1507/endocrj.EJ24-0126","DOIUrl":"https://doi.org/10.1507/endocrj.EJ24-0126","url":null,"abstract":"Parathyroid cancer (PC) is extremely resistant to chemotherapy and radiotherapy (RT), but hormonally functional by producing excessive parathyroid hormone (PTH), causing remarkable hypercalcemia even in biochemical disease recurrence. Accordingly, management of hypercalcemia by calcimimetics and bisphosphonates has been main treatment for unresectable PC. Here, we report a case of unresectable tumor mutational burden (TMB)-high recurrent PC that has been effectively controlled by pembrolizumab (PEM) with RT. A 48-year-old male patient, with previous history of left single parathyroidectomy for primary hyperparathyroidism, underwent surgeries for recurrent hyperparathyroidism at 47 and 48 years of age, and was pathologically diagnosed with PC. He was referred to our hospital due to persistent hypercalcemia and elevated PTH. The recurrent tumors were identified in the superior mediastinum and radically resected, then the hyperparathyroidism was improved. A FoundationOne® CDx of the specimen called TMB-high. He demonstrated recurrent hyperparathyroidism at 49 years of age, and underwent a gross curative resection. However, hyperparathyroidism achieved only insufficient improvement, indicating biochemical residual cancer cells. PEM treatment was initiated in combination with RT to the left central-lateral neck and superior mediastinum. He successfully achieved evocalcet and zoledronate withdrawal, and the PTH level improvement was continuously observed for 8 months at present, with only grade 2 subclinical hypothyroidism. Interestingly, leukocyte fraction ratios were reversed corresponding to disease improvement. A combination of PEM and RT is a promising treatment of unresectable TMB-high PC. Recent evidence on the immunomodulatory effect of RT provides the rationale for the combination of RT and PEM.","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141579303","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

Cushing's disease with twin pregnancy and diabetes mellitus: a case report and literature review. 库欣病合并双胎妊娠和糖尿病：病例报告和文献综述。

IF 1.3 4区医学

Endocrine journal Pub Date : 2024-07-10 DOI: 10.1507/endocrj.EJ23-0725

Hideyasu Asai, Ikuo Yamamori, Shigeru Hagimoto, Kyoichi Okumura, Koki Sakakibara

{"title":"Cushing's disease with twin pregnancy and diabetes mellitus: a case report and literature review.","authors":"Hideyasu Asai, Ikuo Yamamori, Shigeru Hagimoto, Kyoichi Okumura, Koki Sakakibara","doi":"10.1507/endocrj.EJ23-0725","DOIUrl":"https://doi.org/10.1507/endocrj.EJ23-0725","url":null,"abstract":"A 38-year-old Japanese woman with a history of abnormal thyroid function of non-autoimmune origin, pituitary endocrine tumor, and untreated diabetes mellitus was referred to our outpatient clinic when she became pregnant with twins. Physical findings consistent with Cushing's syndrome (CS) were absent at the time of presentation. Although baseline plasma adrenocorticotropic hormone, serum cortisol, and 24-hour urinary free cortisol excretion levels were above the upper limits of normal non-pregnant reference ranges, we could not exclude a physiological increase associated with pregnancy. No medical or surgical intervention for hypercortisolism was performed during pregnancy. Spontaneous vaginal delivery resulted in the normal delivery of live twins. A diagnosis of Cushing's disease (CD) was established when papery skin developed postpartum. Transsphenoidal surgery was performed and the hypercortisolism partially resolved post-operatively. The patient's abnormal thyroid function also resolved. Pregnancy in women with endogenous CS is rare, with less than 300 cases reported. Most reported cases of CS during pregnancy are of adrenal origin. Only two cases of twin pregnancies with CD have been reported. Therefore, we reported the third case of CD in a twin pregnancy and reviewed the diagnostic and therapeutic challenges associated with CD during pregnancy.","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141579302","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

SHOX and sex difference in height: a hypothesis SHOX 与身高性别差异：一个假设

IF 2 4区医学

Endocrine journal Pub Date : 2024-07-09 DOI: 10.1507/endocrj.ej24-0249

Tsutomu Ogata, Atsushi Hattori, Maki Fukami

{"title":"SHOX and sex difference in height: a hypothesis","authors":"Tsutomu Ogata, Atsushi Hattori, Maki Fukami","doi":"10.1507/endocrj.ej24-0249","DOIUrl":"https://doi.org/10.1507/endocrj.ej24-0249","url":null,"abstract":"The mean height is taller in males than in females, except for early teens. In this regard, previous studies have revealed that (1) distribution of the mean adult heights in subjects with disorders accompanied by discordance between sex chromosome complement and bioactive sex steroids and in control subjects (the British height standards) indicates that, of the ~12.5 cm of sex difference in the mean adult height, ~9 cm is accounted for by the difference in the sex chromosome complement and the remaining ~3.5 cm is explained by the dimorphism in sex steroids (primarily due to the growth-promoting effect of gonadal androgens); (2) according to the infancy-childhood-puberty growth model, the sex difference in the childhood growth function produces height differences of ~1 cm in childhood and 8–10 cm at 18–20 years of age, whereas the sex difference in the pubertal growth function yields height difference of ~4.5 cm at 18–20 years of age; and (3) SHOX expression and methylation analyses using knee cartilage tissues and cultured chondrocytes have shown lower SHOX expression levels in female samples than in male samples and methylation patterns consistent with partial spreading of X-inactivation affecting SHOX in female samples. These findings suggest that small but persistent sex difference in SHOX expression dosage leads to the variation in the sex steroid independent childhood growth function, thereby yielding the sex difference in height which remains small in childhood but becomes obvious in adulthood.\u0000","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141568989","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 role of insulin signaling with FOXO and FOXK transcription factors 胰岛素信号与 FOXO 和 FOXK 转录因子的作用

IF 2 4区医学

Endocrine journal Pub Date : 2024-07-09 DOI: 10.1507/endocrj.ej24-0205

Masaji Sakaguchi

{"title":"The role of insulin signaling with FOXO and FOXK transcription factors","authors":"Masaji Sakaguchi","doi":"10.1507/endocrj.ej24-0205","DOIUrl":"https://doi.org/10.1507/endocrj.ej24-0205","url":null,"abstract":"Insulin is an essential hormone for animal activity and survival, and it controls the metabolic functions of the entire body. Throughout the evolution of metazoan animals and the development of their brains, a sustainable energy supply has been essential to overcoming the competition for survival under various environmental stresses. Managing energy for metabolism, preservation, and consumption inevitably involves high oxidative stress, causing tissue damage in various organs. In both mice and humans, excessive dietary intake can lead to insulin resistance in various organs, ultimately displaying metabolic syndrome and type 2 diabetes. Insulin signals require thorough regulation to maintain metabolism across diverse environments. Recent studies demonstrated that two types of forkhead-box family transcription factors, FOXOs and FOXKs, are related to the switching of insulin signals during fasting and feeding states. Insulin signaling plays a role in supporting higher activity during periods of sufficient food supply and in promoting survival during times of insufficient food supply. The insulin receptor depends on the tyrosine phosphatase feedback of insulin signaling to maintain adipocyte insulin responsiveness. α4, a regulatory subunit of protein phosphatase 2A (PP2A), has been shown to play a crucial role in modulating insulin signaling pathways by regulating the phosphorylation status of key proteins involved in these pathways. This short review summarizes the current understanding of the molecular mechanism related to the regulation of insulin signals.\u0000","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141568972","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

Causal inference and machine learning in endocrine epidemiology. 内分泌流行病学中的因果推断和机器学习。

IF 1.3 4区医学

Endocrine journal Pub Date : 2024-07-06 DOI: 10.1507/endocrj.EJ24-0193

Kosuke Inoue

{"title":"Causal inference and machine learning in endocrine epidemiology.","authors":"Kosuke Inoue","doi":"10.1507/endocrj.EJ24-0193","DOIUrl":"https://doi.org/10.1507/endocrj.EJ24-0193","url":null,"abstract":"With the rapid development of computer science, there is an increasing demand for the use of causal inference methods and machine learning in the research of endocrine disorders and their long-term health outcomes. However, studies on the effective and appropriate applications of these approaches in real-world data and clinical settings are still limited. This review will illustrate the use of causal inference and machine learning in epidemiological research within the field of endocrinology and metabolism. It will examine each concept of causal inference and machine learning through application examples of endocrine disorders. Subsequently, the paper will discuss the integration of machine learning within the causal inference framework, including (i) the estimation of treatment effects or the causal relationship between exposure and outcomes, and (ii) the evaluation of heterogeneity in such treatment effects (or exposure-outcome causal relationship) based on individuals' characteristics. Accurately assessing causal relationships and their heterogeneity across different individuals is crucial not only for determining effective interventions, but also for the appropriate allocation of medical resources and reducing healthcare disparities. By illustrating some application examples in endocrinology, this review aims to enhance readers' understanding and application of causal inference and machine learning in future epidemiological studies focusing on endocrine disorders.","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-07-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141554421","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

IF 2 4区医学

Endocrine journal Pub Date : 2024-07-05 DOI: 10.1507/endocrj.ej24-0058

Akari Nakamura-Utsunomiya

{"title":"Autoimmunity related to anti-Nax and anti-ZSCAN1 autoantibodies in adipsic hypernatremia","authors":"Akari Nakamura-Utsunomiya","doi":"10.1507/endocrj.ej24-0058","DOIUrl":"https://doi.org/10.1507/endocrj.ej24-0058","url":null,"abstract":"“Adipsic hypernatremia” is clinically characterized by chronic elevation of plasma [Na+] with an inappropriate lack of thirst and upward resetting of the osmotic set point for arginine vasopressin (AVP) secretion, combined with a relative deficiency of AVP, thereby resulting in persistent hypernatremia. Many cases are accompanied by structural lesions in the hypothalamus, pituitary gland, and circumventricular organs (CVOs). On the other hand, cases without structural lesions have been reported since the 1970s, but the pathophysiology was unknown for a long time. In 2010, Hiyama et al. reported that an anti-Nax antibody response caused adipsic hypernatremia in a pediatric case with ganglioblastoma. In recent years, advances in clinical research have led researchers to recognize that an autoimmunological pathogenic mechanism might be associated with periventricular organs such as the subfornical organ (SFO). In addition, in pediatric cases diagnosed as ROHHAD (rapid-onset obesity with hypoventilation, hypothalamic dysfunction, autonomic dysregulation) syndrome, it has been reported that half of the cases have abnormal serum Na levels, and some research findings indicated an autoimmune mechanism acting on the organs of the hypothalamus and CVOs. Then, anti-ZSCAN1 antibody response was detected in cases diagnosed as ROHHAD-NET in 2022. In this review, by summarizing a series of studies on Nax and ZSCAN1, which are expressed in the hypothalamus, pituitary gland, and SFO, I would like to describe the current findings of the autoimmune pathogenesis of adipsic hypernatremia.\u0000","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-07-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141550246","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 role of oxidative stress, glucocorticoid receptor and ARMC5 in lipid metabolism. 氧化应激、糖皮质激素受体和 ARMC5 在脂质代谢中的作用

IF 1.3 4区医学

Endocrine journal Pub Date : 2024-06-26 DOI: 10.1507/endocrj.EJ24-0177

Yosuke Okuno, Atsunori Fukuhara, Iichiro Shimomura

引用次数: 0