Teddy Fauquier,Thi-Thom Mac,Frédéric Castinetti et al.
Teddy Fauquier et al.
Pituitary deficiencies, or hypopituitarisms, are defined as insufficient production of one or more adenohypophyseal hormones (growth hormone, TSH, ACTH, LH-FSH and prolactin). Congenital hypopituitarism, a rare disease with severely disabli...
Mahira Mehanović,Mélanie Lopes,Sophia Coffy et al.
Mahira Mehanović et al.
Type 1 Diabetes (T1D) is a highly complex and prevalent metabolic disease caused by dysfunctions of pancreatic islets. Over the past decade, diabetes research and treatments have focused on insulin restoration and glucose homeostasis, espec...
Adrenocortical organoids: A promising tool for modelling human physiology and translational research [0.03%]
肾上腺皮质类器官:一种用于模拟人类生理和转化研究的有前途的工具
Melina Tedesco,Andreas Schedl,Yasmine Neirijnck
Melina Tedesco
The adrenal cortex is a vital endocrine organ that controls a wide range of biological parameters including metabolism, blood pressure and immune response, through the release of distinct steroid hormones. As adrenal diseases can be life-th...
Thierry Brue,Jean-Louis Wémeau
Thierry Brue
Theragnostic approach of venous malformations in 2025: similarities and differences with oncology advances [0.03%]
2025年静脉畸形的诊疗方法:与肿瘤学进展的异同点分析
A Dompmartin,J Méry de Montigny,J M LOrphelin
A Dompmartin
Background: VMs are congenital vascular anomalies are often the result of genetic mutations. Advances in genetics have revealed that certain Venous malformations (VMs) share mutations with cancers, specifically in the PI3...
Julien Coulie,Miikka Vikkula,Laurence M Boon
Julien Coulie
Peripheral arteriovenous malformations (AVMs) are rare, high-flow vascular anomalies caused by errors in vasculogenesis or angiogenesis, frequently driven by mutations in the RAS/RAF/MEK/ERK signaling pathway. These lesions exhibit progress...
Stephanie Bowe,Veronika Dvorakova
Stephanie Bowe
Vascular anomalies can present both as the dominant or less prominent feature of multisystem syndromes. In this review, we describe some of the more notable disorders. They may arise as a consequence of a sporadic somatic mutation or less f...
Nicole Revencu,Julien Coulie,Laurence M Boon et al.
Nicole Revencu et al.
Vascular anomalies are a heterogenous group of diseases that include vascular tumours and vascular malformations. Over the past two decades, significant progress has been made in elucidating the genetic basis of these anomalies, leading to ...
Lymphatic malformations revisited: genetics, clinics and future directions [0.03%]
淋巴管畸形的再思考:遗传学、临床和未来方向
Jian Fransén,Sofia Frisk,Nader Ghaffarpour
Jian Fransén
The clinical management of lymphatic malformations presents challenges due to their rarity, variable presentation, and the potential for recurrence. Dissemination of the latest knowledge in lymphatic malformations is needed to streamline re...
Capillary malformations updates on aetiopathogenesis, diagnosis, and management [0.03%]
毛细血管畸形的病因、诊断及治疗新进展
Eulalia Baselga,Luisa F Montenegro Morillo
Eulalia Baselga
Capillary malformations are one of most common birthmarks and sometimes they represent a diagnosis challenge for the physician at first sight. New genetic findings during the last decade have allowanced the understanding of these birthmarks...