Publications by authors named "M Perie"
Article Synopsis
- Congenital myasthenic syndromes (CMS) are genetic disorders that impact neuromuscular transmission, primarily identified in childhood but often diagnosed in adulthood, leading to challenges in management.
- A study of 235 adult CMS patients in France revealed diverse genetic mutations and highlighted the need for ongoing care, as the prognosis and long-term outcomes remain unclear.
- The research categorized patients based on the initial symptoms and found varied disease progression patterns, with certain genotypes showing higher rates of ICU admission and the stability of phenotypical features across a patient's life.
Article Synopsis
- * The patient's uveitis included severe symptoms like decreased vision and inflammatory changes in both eyes, which did not improve with various standard treatments.
- * Tocilizumab successfully brought the patient's uveitis into remission and was effective even one year later while on a low dose of prednisone, suggesting its potential as a valuable treatment option for uveitis related to MS.
Background: To date, almost no research on the psychosocial implications of albinism has been conducted in France and an exploration of albinism-related experiences could be beneficial, in order to better understand this condition. The aim of this study was to examine how French people with albinism and their parents live with and adapt to this condition in all the areas of their lives.
Methods: Semi-structured phone interviews were conducted with 9 parent-child dyads, each participating separately.
Article Synopsis
- The study aimed to evaluate the psychological effects on women whose fertility treatments were delayed during the first COVID-19 wave in France.
- An online survey revealed significant levels of anxiety (around 22%) and drastic increases in stress (50.8%) among the participants, particularly affecting women over 35 and those already undergoing fertility treatments.
- Results underscored the need for psychological support during such disruptions, as many women expressed a strong desire to continue their fertility care once it was safe to do so, despite the emotional toll of the delays.
Objectives: To evaluate the safety and efficacy of ketamine-magnesium combination to reduce attacks in a series of patients with refractory chronic cluster headache (rCCH).
Background: Refractory chronic cluster headache (CCH) is a rare but highly debilitating condition that needs new treatment options. A previous publication reported that a single infusion of ketamine-magnesium combination was effective in 2 patients with rCCH.