Publications by authors named "Chloe Giret"
Glycogen storage disease type 5 (GSD) is an autosomal recessive metabolic myopathy caused by pathogenic variants in the gene. We report the case of a patient with typical exercise intolerance with a "second wind" phenomenon, associated with camptocormia which is not commonly recognized as a feature of the disease. Molecular analysis of the gene the common c.
View Article and Find Full Text PDFThe question of an increased cardiovascular risk has been recently raised in adults with phenylketonuria (PKU). As low-grade systemic inflammation increases cardiovascular risk, the INGRAPH study aimed to evaluate low-grade inflammation in adult PKU patients compared to healthy controls and to determine the potential influence of Phe-controlled diet on inflammation. Twenty early-treated adult PKU patients, including a subgroup of 15 classical PKU patients, and 20 healthy volunteers were included.
View Article and Find Full Text PDFAspergillus spp. renal arteritis after kidney transplantation: A reappraisal.
Transpl Infect Dis
October 2023
Background: Aspergillus spp. is an uncommon and life-threatening cause of transplantrenal artery pseudoaneurysm after kidney transplantation.
Case: We report the case of a 62-year-old woman who underwent kidney transplantation 10 months before and presented a 7-cm asymptomatic transplant renal artery pseudoaneurysm.
Osteitis in Systemic Sclerosis: A Nationwide Case-Control Retrospective Study.
Arthritis Care Res (Hoboken)
May 2022
Article Synopsis
- Systemic sclerosis (SSc) is an autoimmune disorder affecting connective tissues, and this study investigates the prevalence of osteitis in patients with SSc.
- The research included 48 patients, finding that 54.1% had osteitis under digital tip ulcers and symptoms often included pain, erythema, and warmth.
- The study concluded that digital tip ulcers are linked to osteitis in SSc, highlighting the high occurrence of complications and recommending specific antibiotic treatments.