Anne Barlier,Jérôme Bouligand
Anne Barlier
The technical development of automated Sanger sequencing in the 2000s followed by next-generation sequencing (NGS) in the 2010s, has enabled significant advancements in the molecular diagnosis of inherited diseases. The launch of France's f...
Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions [0.03%]
基因组新生儿筛查在罕见病管理中的范式转变，尤其是内分泌疾病的管理
Laurence Faivre,Camille Level,Régis Coutant et al.
Laurence Faivre et al.
Introduction: Genome sequencing (GS) is reshaping newborn screening (NBS) by enabling the early detection of a broader range of rare, treatable and/or actionable disorders. In the context of rapid therapeutic advances, in...
Csilla Krausz,Chiara Abrardo,Judit Vargha et al.
Csilla Krausz et al.
The Y chromosome plays a crucial role in male fertility as it carries genes that are essential for testis development and spermatogenesis. The Yq gene content can be disrupted by microdeletions of AZoospermia Factor (AZF) regions, leading t...
May Fayad,Teresa Cosentino,Nicolo&#x; Faedda et al.
May Fayad et al.
Primary aldosteronism (PA) represents the leading cause of secondary hypertension, resulting from autonomous aldosterone production driven in the majority of cases by a lateralized aldosterone-producing adenoma or by bilateral adrenal hyper...
Genome architecture in endocrine diseases: X-Linked Acrogigantism (X-LAG) syndrome [0.03%]
内分泌疾病的基因组架构：X染色体连锁肢端肥大综合征(X-LAG)
Adrian F Daly,Albert Beckers,Patrick Pétrossians
Adrian F Daly
X-linked acrogigantism (X-LAG) is a rare disease that represents a severe form of pituitary gigantism characterized by early-onset growth hormone (GH), insulin-like growth factor 1 (IGF1) and prolactin excess. X-LAG is associated with dupli...
Genotype-phenotype correlation and challenges in mutation detection in McCune-Albright syndrome: A retrospective study of a French cohort [0.03%]
McCune-Albright综合征的基因型表型相关性及突变检测挑战：法国队列的回顾性研究
Camille Giannetti,Karine Aouchiche,Arnaud Lagarde et al.
Camille Giannetti et al.
Background: McCune-Albright syndrome MAS is a rare mosaic disorder caused by post-zygotic GNAS activating mutations. MAS is characterized by fibrous dysplasia (FD) of the skeleton, café-au-lait skin macules, and hyperfun...
Prenatal Exposure to Parabens: Associations with Reproductive Hormone Alterations Prenatal Paraben Exposure and Reproductive Hormones [0.03%]
孕期接触对羟基苯甲酸酯与生殖激素改变的关系
Abderrezak Khelfi,Aicha Touati,Ikram Zouaoui et al.
Abderrezak Khelfi et al.
Background: Parabens are ubiquitous in the environment due to their extensive use in food, personal care products and pharmaceuticals. Owing to their estrogenic properties, they are classified as suspected endocrine-disru...
Appropriate thyroid test ordering: when clinical excellence meets environmental sustainability [0.03%]
适宜的甲状腺功能检测开单：临床卓越与环境可持续性的结合
Damien Gruson,Maria-Cristina Burlacu
Damien Gruson
Thyroid function tests are one of the most frequently requested laboratory investigations worldwide and a recognized area of over-testing. While inappropriate thyroid testing was traditionally discussed in terms of clinical relevance and ec...
Efficacy and Safety of Radiofrequency Ablation for Secondary Hyperparathyroidism: A Systematic Review and Single-Arm Meta-Analysis [0.03%]
射频消融治疗继发性甲旁亢有效性和安全性的系统评价和单臂meta分析
Mohamed Sherif Ali Ahmed,Ahmed Hamouda,Hassan Magdy et al.
Mohamed Sherif Ali Ahmed et al.
Background: Radiofrequency ablation (RFA) has emerged as a minimally invasive alternative to surgery for secondary hyperparathyroidism (SHPT), but efficacy and safety are still under evaluation. This meta-analysis assesse...
LDL cholesterol calculation methods and their influence on the indications for cholesterol-lowering treatment [0.03%]
LDL胆固醇计算方法及其对降脂治疗指征的影响
Sébastien Magnifico,Charlotte Durand-Maugard,Agnès Boullier et al.
Sébastien Magnifico et al.
Introduction: The Friedewald equation is problematic at high triglyceride or low LDL-c levels. Alternatives, such as the Martin-Hopkins or Sampson-NIH equations, have been proposed. This study aims to compare LDL-c estima...