Publications by authors named "M Cartigny"
Article Synopsis
- APECED syndrome is a rare genetic disorder caused by mutations in the AIRE gene, typically characterized by a triad of symptoms including hypoparathyroidism, adrenal failure, and chronic mucocutaneous candidiasis (CMC), along with other non-endocrine issues.
- In a national study involving 25 patients from 23 families, researchers identified 11 different variants of the AIRE gene, including two previously unreported variants, and found that a majority of patients displayed multiple clinical manifestations.
- The study revealed significant immunological disturbances, such as NK cell lymphopenia and altered B lymphocyte homeostasis, and highlighted a variety of non-endocrine symptoms that could potentially be life-threatening, emphasizing the need for
Article Synopsis
- The study analyzed changes in the diagnosis and management of patients with two types of genetic deficiencies (SRD5A2 and HSD17B3) from 1994 to 2020, focusing on current diagnostic practices.
- Out of 52 patients, over half were diagnosed at birth, with a trend showing earlier diagnoses for those born after 2007, and a notable shift in initial sex assignment from predominantly female to increasingly male.
- Genetic testing revealed a variety of mutations in both genes, and the study concluded that there’s been a significant change in clinical approaches and therapeutic interventions based on evolving understanding of these conditions.
Here we show how major rivers can efficiently connect to the deep-sea, by analysing the longest runout sediment flows (of any type) yet measured in action on Earth. These seafloor turbidity currents originated from the Congo River-mouth, with one flow travelling >1,130 km whilst accelerating from 5.2 to 8.
View Article and Find Full Text PDFArticle Synopsis
- Recent research has revealed the structure and evolution of turbidity currents, significant sediment transport phenomena previously under-studied.
- The analysis of multiple monitored turbidity currents shows varied characteristics, with fast, dense heads transporting significantly more sediment than slower, dilute flows.
- Dense flow heads can dominate sediment transport dynamics, affecting how these currents extend into deeper ocean areas.
Therapeutic indications and metabolic effects of metreleptin in patients with lipodystrophy syndromes: Real-life experience from a national reference network.
Diabetes Obes Metab
August 2022
Aim: To describe baseline characteristics and follow-up data in patients with lipodystrophy syndromes treated with metreleptin in a national reference network, in a real-life setting.
Patients And Methods: Clinical and metabolic data from patients receiving metreleptin in France were retrospectively collected, at baseline, at 1 year and at the latest follow-up during treatment.
Results: Forty-seven patients with lipodystrophy including generalized lipodystrophy (GLD; n = 28) and partial lipodystrophy (PLD; n = 19) received metreleptin over the last decade.