Publications by authors named "Perie M"
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.
Introduction: IgG4 antibodies against neurofascin (Nfasc155 and Nfasc140/186), contactin (CNTN1) and contactin-associated protein (Caspr1) are described in specific subtypes of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). Our objective was to assess, in a real-life practice, the incidence, the clinical features and the response to treatment of these forms of CIDP.
Methods: 1500 sera of patients suspected of having CIDP from France, Belgium and Switzerland were prospectively tested using a flow cytometry technique.
Currently only 25-30% of patients with axonal forms of Charcot-Marie-Tooth disease (CMT) receive a genetic diagnosis. We aimed to identify the causative gene of CMT type 2 in 8 non-related French families with a distinct clinical phenotype. We collected clinical, electrophysiological, and laboratory findings and performed genetic analyses in four different French laboratories.
View Article and Find Full Text PDFBackground: Studies of cancer prevalence have produced conflicting results concerning the relative risk of overall and specific sub-types of cancer in patients with multiple sclerosis (MS). Contemporary controls and information on tobacco use and alcohol consumption are generally missing from previous studies.
Objectives: To evaluate lifetime cancer prevalence in a large cohort of MS patients relative to appropriate controls.
Introduction: Early prenatal interview has needed the implementation of a new communication tool between follow-up pregnancy professionals: a link sheet filled and carried by patients.
Objective: To assess the utilization of link sheet by trained professionals, the contribution of the interview and the patient acceptation of the link sheet.
Materials And Method: Descriptive survey from the database of link sheets returned by professionals to Aurore perinatal network and semi-guided interviews with 100 randomized patients.
Objectives: We sought to compare coronary stent implantation with balloon angioplasty (BA), in a diabetic population, in terms of the six-month angiographic outcome and four-year clinical events.
Background: Diabetic patients have a poor angiographic and clinical outcome after standard coronary BA. To date, it is still unclear whether stent implantation may improve this outcome.
Background: Several reports have demonstrated a high mortality rate in diabetic patients treated by standard coronary balloon angioplasty. No clear explanation has been provided for this finding.
Methods And Results: Consecutive diabetic patients successfully treated by standard coronary balloon angioplasty (n=604) were enrolled in a follow-up program including repeated angiography at 6 months and long-term clinical follow-up.
Why and when do people disagree on their conceptions or prototypes of social categories? In 6 studies, it was revealed that such differences tend to be self-serving. Ss tended to endorse self-descriptive attributes as central to their prototypes of desirable social concepts and emphasize features that were not self-descriptive in their conceptions of undesirable categories. Such disagreements were constrained to attributes potentially central to the domain in question and did not occur for clearly peripheral features.
View Article and Find Full Text PDF