Publications by authors named "Humeau H"
Article Synopsis
- Yellow Nail Syndrome (YNS) is a rare condition marked by yellow, malformed nails, swelling due to lymphedema, and chronic lung issues, typically presenting in adulthood, with potential genetic links suggested.
- Researchers conducted genetic sequencing and expression studies on 11 patients (6 with congenital YNS and 5 with sporadic YNS) to investigate its underlying causes.
- Findings revealed biallelic variants in genes related to the Wnt/planar cell polarity pathway in congenital cases, indicating that defects in cellular organization could be key to understanding YNS's development, though the study's small sample size is a limitation.
Promoting the use of simulation in therapeutic patient education.
Ann Dermatol Venereol
December 2024
Changes in the gut microbiota of pseudoxanthoma elasticum patients.
Ann Dermatol Venereol
September 2024
Article Synopsis
- Pseudoxanthoma elasticum (PXE) is a rare genetic disorder linked to abnormal calcification, potentially influenced by vitamin K levels and gut microbiota.
- A study with 20 PXE patients showed different gut microbiota compositions compared to 60 controls, with notable differences in specific bacterial families.
- Although the gut microbiota in PXE patients exhibited slight variations, no strong connection to vitamin K levels or disease severity was established, highlighting the need for more research on their interactions.
Purpose: Health-care transition (HCT) is a necessary part of the care process for allsick adolescents, to allow their empowerment while limiting disruption to follow-up care. Pseudoxanthoma elasticum (PXE) runs the risk of losing patients to follow-up because young patients are predominantly asymptomatic. This can be detrimental as it can prevent primary prevention measures from being properly implemented.
View Article and Find Full Text PDFBackground: C1INH-deficiency hereditary angioedema (HAE) is characterized by recurrent episodes of potentially severe oedema. Icatibant for SC injection will soon be approved for use in children and it is necessary to train parents in recognising severe episodes of AOH and in the technique for injection of icatibant. Simulation in healthcare (SH) is a set of educational methods for improving skills in a safe environment.
View Article and Find Full Text PDFDermoscopic phenotype of pseudoxanthoma elasticum skin lesions: a study of 16 patients.
J Eur Acad Dermatol Venereol
July 2019
Background: Angio-oedema (AO) can be attributable to bradykinin (BK) accumulation, as is the case for prototypical hereditary AO (HAO) due to C1 inhibitor (C1-INH) deficiency. However, our clinical experience in a reference centre has shown that some patients display a clinical history suggestive of HAO, but exhibit normal C1-INH function, have no mutation in the causative genes associated with HAO (SERPING1, F12), and report no intake of drugs known to promote AO.
Objective: We sought to determine the frequency and distribution of different AO subtypes suspected to be BK-mediated AO (BK-AO) and defined by clinical, history and biological criteria (enzyme activities implicated in BK formation and catabolism).
Purpose: To evaluate the impact of salpingectomy on the rates of embryo implantation and pregnancy in patients with severe, irreversible tubal factor sterility.
Methods: A retrospective study of patients with repeated failure of in vitro fertilization due to nonimplantation of the embryo. Seventy-two patients with severe and irreversible tubal factor sterility were selected following repeated failure of in vitro fertilization (IVF) due to assumed nonimplantation of the embryo: 35 underwent a salpingectomy before continuing IVF cycles and 37 continued IVF cycles without salpingectomy.