Presse Medicale最新文献_第4页

Pituitary organoids as models for congenital pituitary deficiencies 垂体类器官作为先天性垂体缺陷的模型。

IF 3.4 3区医学

Presse Medicale Pub Date : 2025-12-01 Epub Date: 2025-07-09 DOI: 10.1016/j.lpm.2025.104299

Teddy Fauquier , Thi-Thom Mac , Frédéric Castinetti , Thierry Brue

{"title":"Pituitary organoids as models for congenital pituitary deficiencies","authors":"Teddy Fauquier , Thi-Thom Mac , Frédéric Castinetti , Thierry Brue","doi":"10.1016/j.lpm.2025.104299","DOIUrl":"10.1016/j.lpm.2025.104299","url":null,"abstract":"<div><div>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 disabling consequences, often takes the form of isolated hormone deficiencies, such as isolated growth hormone deficiency (GHD) or isolated ACTH deficiency (ACTHD), or combined pituitary hormone deficiencies (CPHD), when several pituitary hormones are affected. They are mainly the result of genetic mutations, developmental malformations or the harmful action of environmental factors during foetal development. The last two decades have seen the emergence of new <em>in vitro</em> models called organoids, which make it possible to partially recreate the development of an organ using pluripotent cells. Using human embryonic stem cells (hESCs) or induced human embryonic stem cells (hiPSCs), it has been possible to recreate various stages of hypothalamic-pituitary development, a complex mechanism requiring interaction between two embryonic structures of different origins, right up to the production of functional pituitary endocrine cells. Coupled with techniques for reprogramming patients' somatic cells, these organoids have made it possible to understand the cellular and molecular mechanisms leading to the pathogenicity of a mutation in the <em>OTX2</em> gene, identified as being responsible for CPHD. Using the CRISPR-CAS9 gene-editing technique, they have also demonstrated that the endocrine phenotype of patients suffering from DAVID syndrome is indeed linked to a mutation in the <em>NFKB2</em> gene, thereby identifying this gene as a central element in pituitary development. Finally, the ability of these organoids to present a secretory response to hypothalamic stimulation and the possibility of modulating these signals by mimicking feedback from the target organs suggest that they could be used therapeutically.</div></div>","PeriodicalId":20530,"journal":{"name":"Presse Medicale","volume":"54 4","pages":"Article 104299"},"PeriodicalIF":3.4,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144619924","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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

Theragnostic approach of venous malformations in 2025: Similarities and differences with oncology advances 2025年静脉畸形的治疗方法：肿瘤学进展的异同。

IF 3.2 3区医学

Presse Medicale Pub Date : 2025-09-01 Epub Date: 2025-06-13 DOI: 10.1016/j.lpm.2025.104297

A. Dompmartin, J. Méry de Montigny , J.M. L'Orphelin

{"title":"Theragnostic approach of venous malformations in 2025: Similarities and differences with oncology advances","authors":"A. Dompmartin, J. Méry de Montigny , J.M. L'Orphelin","doi":"10.1016/j.lpm.2025.104297","DOIUrl":"10.1016/j.lpm.2025.104297","url":null,"abstract":"<div><h3>Background</h3><div>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 PI3K/AKT/mTOR proliferative pathways. This discovery has paved the way for targeted treatments, similar to those used in oncology. We aim to explore differences between VMs and cancers, particularly in therapeutic and diagnostic approaches.</div></div><div><h3>Material and methods</h3><div>We performed a systematic review of literature, up to June 2024. Articles has been classified in 3 topics: Clinical advances and prospects; Genomic concern and proliferation pathway and Therapeutics and issues: neoadjuvant strategy, adjuvant strategy. The primary outcome was to make comparison between issues in oncology and VMs.</div></div><div><h3>Discussion</h3><div>We identified genetic implications as, in some hereditary cases of VMs, the \"two-hit\" mechanism involves both a germline and a somatic mutation in the same gene, resulting in loss of function and the manifestation of the malformation. Regarding the <em>Therapeutic Strategies and Comparison with Oncology, adjuvant and neoadjuvant seem to be promising in VMs. Lastly, t</em>reatment acceptability is a key issue for VM patients: tolerance to the side effects of anticancer drugs used for VMs is a major concern.</div></div><div><h3>Conclusion</h3><div>Wile VMs and cancers share some proliferative pathways and therapeutic targets, they differ in their growth dynamics and impact on surrounding tissues. The management of VMs is increasingly approached as a “chronic disease,” similar to oncology, but the benefit-risk balance and quality of life remain specific concerns.</div></div>","PeriodicalId":20530,"journal":{"name":"Presse Medicale","volume":"54 3","pages":"Article 104297"},"PeriodicalIF":3.2,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144302742","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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

Lymphatic malformations revisited: Genetics, clinics and future directions 淋巴畸形重访：遗传学、临床和未来方向。

IF 3.2 3区医学

Presse Medicale Pub Date : 2025-09-01 Epub Date: 2025-05-29 DOI: 10.1016/j.lpm.2025.104293

Jian Fransén , Sofia Frisk , Nader Ghaffarpour

{"title":"Lymphatic malformations revisited: Genetics, clinics and future directions","authors":"Jian Fransén , Sofia Frisk , Nader Ghaffarpour","doi":"10.1016/j.lpm.2025.104293","DOIUrl":"10.1016/j.lpm.2025.104293","url":null,"abstract":"<div><div>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 referral pathways and possibly improve patient outcomes. This paper provides a narrative review of the latest developments in aetiopathogenesis, diagnosis and management of lymphatic malformations. Multidisciplinary recommendations from the European Reference Network on Rare Multisystemic Vascular Diseases, Vascular Anomalies working group sets the basis for this review. A literature search was conducted to include the latest research based on authors’ preferences. Understanding the aetiopathogenesis of lymphatic malformations is important, as new genetic insights can dictate management strategies. Advancements in diagnostics allow for better differentiation between malformation types and imaging of anatomical infiltrations, where treatment options differ and are more commonly multimodal. Further systematic studies are needed on larger study populations, such as prospective trials and meta-analyses, to improve evidence-based practice.</div></div>","PeriodicalId":20530,"journal":{"name":"Presse Medicale","volume":"54 3","pages":"Article 104293"},"PeriodicalIF":3.2,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144192074","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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

Diagnosis and management of infantile hemangiomas: Tremendous advances over the last 15 years 婴儿血管瘤的诊断和治疗：在过去的15年中取得了巨大的进步。

IF 3.2 3区医学

Presse Medicale Pub Date : 2025-09-01 Epub Date: 2025-05-28 DOI: 10.1016/j.lpm.2025.104291

Dorine Canu , Sorilla Mary-Prey , Christine Leauté-Labreze

引用次数: 0

Genetic aspects of vascular malformations 血管畸形的遗传方面。

IF 3.2 3区医学

Presse Medicale Pub Date : 2025-09-01 Epub Date: 2025-05-29 DOI: 10.1016/j.lpm.2025.104295

Nicole Revencu , Julien Coulie , Laurence M. Boon , Miikka Vikkula

引用次数: 0

Syndromic vascular anomalies: A challenge 综合征性血管异常：一个挑战。

IF 3.2 3区医学

Presse Medicale Pub Date : 2025-09-01 Epub Date: 2025-05-30 DOI: 10.1016/j.lpm.2025.104294

Stephanie Bowe , Veronika Dvorakova

引用次数: 0

Peripheral arteriovenous malformations: Diagnosis and future prospects 外周动静脉畸形：诊断及未来展望。

IF 3.2 3区医学

Presse Medicale Pub Date : 2025-09-01 Epub Date: 2025-06-09 DOI: 10.1016/j.lpm.2025.104296

Julien Coulie , Miikka Vikkula , Laurence M. Boon

{"title":"Peripheral arteriovenous malformations: Diagnosis and future prospects","authors":"Julien Coulie , Miikka Vikkula , Laurence M. Boon","doi":"10.1016/j.lpm.2025.104296","DOIUrl":"10.1016/j.lpm.2025.104296","url":null,"abstract":"<div><div>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 progressive behavior, leading to diverse clinical presentations ranging from localized pain, swelling and important bleeding to severe systemic complications such as high-output cardiac failure. AVMs pose significant diagnostic and therapeutic challenges due to their heterogeneous nature and high recurrence rates. Accurate diagnosis relies on advanced imaging modalities, including Doppler ultrasonography, magnetic resonance imaging and angiography, and digital subtraction angiography, which provide critical insights into lesion extent and flow dynamics. Current management strategies involve a combination of preoperative embolization, surgical excision, and endovascular therapies. However, incomplete treatment frequently results in recurrence, emphasizing the need for complete nidus removal. Emerging antiangiogenic therapies, such as thalidomide and MEK inhibitors, show promise as adjuncts to invasive treatments, potentially reducing recurrence rates and enhancing long-term outcomes. This review highlights the need for standardized treatment protocols, integrating clinical, anatomical, and genetic insights. Syndromic AVMs require broader diagnostic and therapeutic considerations, while advances in molecular genetics pave the way for targeted pharmacologic therapies. Future research should focus on refining combination therapies and optimizing individualized care through multidisciplinary approaches. While challenges remain, these developments represent significant steps toward improving outcomes for patients with this complex and debilitating vascular anomaly.</div></div>","PeriodicalId":20530,"journal":{"name":"Presse Medicale","volume":"54 3","pages":"Article 104296"},"PeriodicalIF":3.2,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144275801","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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

Editorial QMR vascular malformations 血管畸形。

IF 3.2 3区医学

Presse Medicale Pub Date : 2025-09-01 Epub Date: 2025-05-28 DOI: 10.1016/j.lpm.2025.104290

Anne Dompmartin

引用次数: 0

Capillary malformations updates on aetiopathogenesis, diagnosis, and management 毛细血管畸形的病因、诊断和治疗的最新进展。

IF 3.2 3区医学

Presse Medicale Pub Date : 2025-09-01 Epub Date: 2025-05-29 DOI: 10.1016/j.lpm.2025.104292

Eulalia Baselga, Luisa F. Montenegro Morillo

引用次数: 0

French evaluation of innovative health technologies: Early access and fundings 法国对创新卫生技术的评价：尽早获得和供资

IF 3.2 3区医学

Presse Medicale Pub Date : 2025-06-01 Epub Date: 2025-04-08 DOI: 10.1016/j.lpm.2025.104284

Capucine Serain , Sylvie Chevret , Yann Chambon , Vanessa Hernando , Françoise Lucet , Samuel Seksik , Hassan Serrier , Elodie Velzenberger Maquart , Pierre Cochat

{"title":"French evaluation of innovative health technologies: Early access and fundings","authors":"Capucine Serain , Sylvie Chevret , Yann Chambon , Vanessa Hernando , Françoise Lucet , Samuel Seksik , Hassan Serrier , Elodie Velzenberger Maquart , Pierre Cochat","doi":"10.1016/j.lpm.2025.104284","DOIUrl":"10.1016/j.lpm.2025.104284","url":null,"abstract":"<div><h3>Background</h3><div>To accelerate the availability of innovative healthcare technologies for patients with the potential for significant clinical benefits in a context of high unmet needs, derogatory programs have been elaborated. The aim of this paper is to describe the different pathways developed in France to accelerate access to innovation, efficiently handle uncertainties while controlling the risks for patients.</div></div><div><h3>Methods</h3><div>We first describe the different early and temporary accesses to innovation in France involving the HAS. Feedback on these pathways based on the decisions provided by the HAS up until June 2024, is summarised and discussed. Subsequent emphasis is placed on the challenges of the evaluation process.</div></div><div><h3>Findings</h3><div>French derogatory pathways for innovation distinguish between medicinal products, medical devices (MDs) and procedures, as well as the funding mechanism. Early funding is dedicated to MDs, in vitro diagnostic MDs and procedures. Later fast-track access is dedicated to medicinal products but also to (digital) MDs. Based on the submitted files from 2015 to 2021, the derogatory access was approved about 70% for medicinal products and 30% for MDs/procedures.</div></div><div><h3>Conclusions and Relevance</h3><div>While fast-track processes appear widely used and understood for medicinal products, the different pathways available for MDs and procedures remain under-used and sometimes misunderstood. Whichever the product, the main limitation factor of approval was data quality and maturity, in concordance with reports on accelerated approvals from the FDA. The main challenge is to find the right balance between rapid access to innovation and patient safety, while addressing ethical challenges posed by new therapeutic approaches.</div></div>","PeriodicalId":20530,"journal":{"name":"Presse Medicale","volume":"54 2","pages":"Article 104284"},"PeriodicalIF":3.2,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143924138","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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