Introduction The determination of steroid hormone concentration, which is part of the initial approach in the diagnosis of disorders of sex development (DSD), is one of the challenges in pediatric endocrinology ( 1 , 2 , 3 ). Based on the
Letícia Ribeiro Oliveira, Carlos Alberto Longui, Guilherme Guaragna-Filho, José Luiz Costa, Rafael Lanaro, David Antônio Silva, Maria Izabel Chiamolera, Maricilda Palandi de Mello, André Moreno Morcillo, Andrea Trevas Maciel-Guerra, and Gil Guerra-Junior
N Bergmann, F Gyntelberg, and J Faber
etiology seems multifactorial, which calls for new areas of prevention and intervention. One potential risk factor for the development of MES is chronic psychosocial stress, in the following referred to as stress. In general it is accepted to divide the
Henrik Falhammar, Hedi Claahsen-van der Grinten, Nicole Reisch, Jolanta Slowikowska-Hilczer, Anna Nordenström, Robert Roehle, Claire Bouvattier, Baudewijntje P C Kreukels, Birgit Köhler, and on behalf of the dsd-LIFE group
Introduction Disorders of sex development (DSD) are characterized by incongruence of chromosomal, gonadal and genital sex development, and in some conditions, impaired adrenal function. DSD can be divided into three major groups: DSD with
L A Hughes, K McKay-Bounford, E A Webb, P Dasani, S Clokie, H Chandran, L McCarthy, Z Mohamed, J M W Kirk, N P Krone, S Allen, and T R P Cole
Introduction Disorders of sex development (DSD) encompass a wide range of conditions with diverse clinical features, pathophysiology and clinical management ( 1 , 2 , 3 ). The recently revised stratified DSD diagnostic pathway consists of
Mengxue Yang, Bowen Sun, Jianhui Li, Bo Yang, Jie Xu, Xue Zhou, Jie Yu, Xuan Zhang, Qun Zhang, Shan Zhou, and Xiaohua Sun
genetic factors, environmental factors and immune factors ( 7 , 8 ). However, the exact mechanisms underlying the development of GD remain unclear. Segmented filamentous bacteria (SFB) may be effective inducers of Th17 cells in the intestinal mucosal
Suvanjaa Sivalingam, Marianne Thvilum, Thomas Heiberg Brix, Laszlo Hegedüs, and Frans Brandt
impact of month of birth for the development of GD has only received little attention ( 18 , 19 ). Due to low power, the findings have been inconclusive. In contrast to GD, it has never been investigated whether TNG is influenced by seasonality in month
Tatiana V Novoselova, Peter J King, Leonardo Guasti, Louise A Metherell, Adrian J L Clark, and Li F Chan
crucial actions of ACTH and/or glucocorticoids during development. Mrap -knockout mouse model We recently reported a Mrap KO ( Mrap − / − ) mouse model created by targeting the first coding exon of Mrap, which led to complete
Stine Linding Andersen and Stig Andersen
The management of hyperthyroidism in pregnant patients has been a topic of raised clinical awareness for decades. It is a strong recommendation that overt hyperthyroidism of Graves’ disease in pregnant women should be treated to prevent complications. The consequences of hyperthyroidism in pregnancy are less studied than hypothyroidism, and a literature review illustrates that the main burden of evidence to support current clinical guidance emerges from early observations of severe complications in Graves’ disease patients suffering from untreated hyperthyroidism in the pregnancy. On the other hand, the more long-term consequences in children born to mothers with hyperthyroidism are less clear. A hypothesis of fetal programming by maternal hyperthyroidism implies that excessive levels of maternal thyroid hormones impair fetal growth and development. Evidence from experimental studies provides clues on such mechanisms and report adverse developmental abnormalities in the fetal brain and other organs. Only few human studies addressed developmental outcomes in children born to mothers with hyperthyroidism and did not consistently support an association. In contrast, large observational human studies performed within the last decade substantiate a risk of teratogenic side effects to the use of antithyroid drugs in early pregnancy. Thus, scientific and clinical practice are challenged by the distinct role of the various exposures associated with Graves’ disease including the hyperthyroidism per se, the treatment, and thyroid autoimmunity. More basic and clinical studies are needed to extend knowledge on the effects of each exposure, on the potential interaction between exposures and with other determinants, and on the underlying mechanisms.
Taísa A R Vicente, Ívina E S Rocha, Roberto Salvatori, Carla R P Oliveira, Rossana M C Pereira, Anita H O Souza, Viviane C Campos, Elenilde G Santos, Rachel D C Araújo Diniz, Eugênia H O Valença, Carlos C Epitácio-Pereira, Mario C P Oliveira, Andrea Mari, and Manuel H Aguiar-Oliveira
action of GH occurs mainly in the liver, and the hypoglycemic action of IGF1 occurs mainly in muscle (2) . At least in animal models, IGF1 also has an important role in the development of β-cell mass (3, 4, 5) . Genetic forms of GH resistance or GH
Yang Lv, Ning Pu, Wei-lin Mao, Wen-qi Chen, Huan-yu Wang, Xu Han, Yuan Ji, Lei Zhang, Da-yong Jin, Wen-Hui Lou, and Xue-feng Xu
We aim to investigate the clinical characteristics of the rectal NECs and the prognosis-related factors and construct a nomogram for prognosis prediction.
The data of 41 patients and 1028 patients with rectal NEC were retrieved respectively from our institution and SEER database. OS or PFS was defined as the major study outcome. Variables were compared by chi-square test and t-test when appropriate. Kaplan–Meier analysis with log-rank test was used for survival analysis and the Cox regression analysis was applied. The nomogram integrating risk factors for predicting OS was constructed by R to achieve superior discriminatory ability. Predictive utility of the nomogram was determined by concordance index (C-index) and calibration curve.
In the univariate and multivariate analyses, tumor differentiation, N stage, M stage and resection of primary site were identified as independent prognostic indicators. The linear regression relationship was found between the value of Ki-67 index and the duration of OS (P < 0.05). Furthermore, the independent prognostic factors were added to formulate prognostic nomogram. The constructed nomogram showed good performance according to the C-index.
Contrary to WHO classification guideline, we found that the rectal NEC diseases are heterogeneous and should be divided as different categories according to the pathological differentiation. Besides, the nomogram formulated in this study showed excellent discriminative capability to predict OS for those patients. More advanced predictive model for this disease is required to assist risk stratification via the formulated nomogram.