Publications by authors named "Caroline De Kerguenec"

Background: Data on the management of Hepatitis B-Delta (HB-D) by hepatogastroenterologists (HGs) practicing in nonacademic hospitals or private practices are unknown in France.

Objective: We aimed to evaluate the knowledge and practices of HGs practicing in nonacademic settings regarding HB-D.

Methods: A Google form document was sent to those HGs from May to September 2021.

View Article and Find Full Text PDF
Article Synopsis
  • Ferroportin disease is a rare genetic disorder causing excess iron in the body, possibly more common than previously thought, but often underdiagnosed due to high costs and unclear genetic testing criteria.
  • The study developed a scoring system based on various clinical factors to improve screening for this condition, using data from over 1,300 patients to create a weighted score that aids diagnosis.
  • The scoring system showed a sensitivity of 93.6% and is proposed for use in regular clinical practice to help identify and manage patients with ferroportin disease effectively.
View Article and Find Full Text PDF

Hemochromatosis type 4 is one of the most common causes of primary iron overload, after -related hemochromatosis. It is an autosomal dominant disorder, primarily due to missense mutations in This gene encodes ferroportin 1 (FPN1), which is the sole iron export protein reported in mammals. Not all heterozygous missense mutations in are disease-causing.

View Article and Find Full Text PDF

Background & Aims: Hereditary hemochromatosis is a heterogeneous group of genetic disorders characterized by parenchymal iron overload. It is caused by defective expression of liver hepcidin, the main regulator of iron homeostasis. Iron stimulates the gene encoding hepcidin (HAMP) via the bone morphogenetic protein (BMP)6 signaling to SMAD.

View Article and Find Full Text PDF

Objective: To determine the effects of iron depletion on serum levels of joint biomarkers and on joint symptoms in patients with hereditary haemochromatosis (HH).

Methods: Levels of biomarkers were measured in 18 patients with HH at the time of diagnosis and after iron depletion. The markers were type II collagen degradation (Coll2-1) and its nitrated form (Coll2-1NO(2)), type II procollagen synthesis (CPII), MPO, COMP and HA.

View Article and Find Full Text PDF