Publications by authors named "Caroline Salmon"
Article Synopsis
- Dominant variants in the RARB gene cause MCOPS12, a type of microphthalmia that comes with various birth defects and developmental delays, impacting 25 individuals in this study.
- The research employed transcriptional assays and structural analysis to evaluate how these RARB variants affect its typical function, revealing both gain-of-function and loss-of-function activities.
- Findings indicate that while RARB disruption leads to a variety of clinical outcomes, some affected individuals may not show key symptoms like eye abnormalities or motor issues, highlighting the complexity of these genetic variations.
Objective: To analyze outcomes and postoperative complications in patients undergoing robot-assisted isthmocele repair.
Method: This retrospective cohort study included 33 patients who had robot-assisted laparoscopic surgical management of an isthmocele between September 2013 and August 2020 in two French university hospitals. All charts were reviewed to identify patient characteristics, preoperative and postoperative anatomical findings, complications, and postoperative fertility and symptoms.
Inappropriate stimulation or defective negative regulation of the type I interferon response can lead to autoinflammation. In genetically uncharacterized cases of the type I interferonopathy Aicardi-Goutières syndrome, we identified biallelic mutations in LSM11 and RNU7-1, which encode components of the replication-dependent histone pre-mRNA-processing complex. Mutations were associated with the misprocessing of canonical histone transcripts and a disturbance of linker histone stoichiometry.
View Article and Find Full Text PDFObjectives: To evaluate the efficacy of stapes surgery in patients presenting with a preoperative mixed hearing loss (bone conduction thresholds ≥40 dB; 40 < air conduction thresholds (AC) < 85 dB).
Patients And Methods: A total of 30 patients (32 ears) with mixed hearing loss who underwent primary stapedotomy were evaluated. Audiometric parameters were assessed before and after surgery.
Feasibility of an implanted microphone for cochlear implant listening.
Eur Arch Otorhinolaryngol
March 2017
This study aimed at evaluating the feasibility of an implanted microphone for cochlear implants (CI) by comparison of hearing outcomes, sound quality and patient satisfaction of a subcutaneous microphone to a standard external microphone of a behind-the-ear sound processor. In this prospective feasibility study with a within-subject repeated measures design comparing the microphone modalities, ten experienced adult unilateral CI users received an implantable contralateral subcutaneous microphone attached to a percutaneous plug. The signal was pre-processed and fed into their CI sound processor.
View Article and Find Full Text PDFObjectives: The efficacy of stapedotomies performed on patients with small air-bone gaps (<25 dB) was compared with the efficacy of the operation in patients who had otosclerosis with high air-bone gaps (≥25 dB).
Methods: This retrospective study evaluates the short-term postoperative air and bone conduction thresholds and air-bone gaps after 182 CO2 laser stapedotomies.
Results: A significantly smaller air-bone gap and lower air conduction thresholds after surgery were observed in the group of patients who underwent surgery with preoperative air-bone gaps of less than 25 dB.