[6] The presented case shows that a late diagnosis of Turner's syndrome can make the choice of an optimal hormonal regimen even more difficult. Although the patient's final height was 0.4 cm ...

This revealed a 45,X karyotype with no evidence of mosaicism, confirming the diagnosis of Turner's syndrome. The patient's height standard deviation scores (hSDS) were assessed according to a ...

although there is little information in the literature documenting findings specific to Turner syndrome mosaics. Ophthalmic findings are described in four patients with mosaic Turner syndrome. All had ...

including Turner syndrome. As this condition shares many clinical features with Noonan syndrome, it would seem logical to treat the latter group with GH. AIMS To assess the short and long term ...

Scientists have discovered a potential genetic link to Alzheimer's disease which could revolutionise how the condition is ...

The treatment, diagnosis and prevention of Alzheimer’s disease could be entering a new era after a groundbreaking chromosome ...

VEXAS syndrome (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) is a novel disorder first described in 2020. Patients are diagnosed by identifying a somatic mutation of the ubiquitin-like ...

1 Center of Clinical Epidemiology, Hôpital Hotel Dieu; INSERM U738, Université Paris-René Descartes, Paris, France Objectives To validate the two recently developed disease activity indexes for ...

Long COVID continues to leave millions grappling with persistent symptoms, challenging the path to recovery and highlighting ...