Publications by authors named "J Cousin"
Objective: To assess whether access to smartphone video capture of infantile spasms at initial presentation is associated with improved time to diagnosis and treatment.
Methods: We conducted a collaborative retrospective cohort study of 80 consecutive infants with confirmed infantile epileptic spasms syndrome initially presenting from 2015 to 2021 at 2 US pediatric centers. Statistical methods used included Mann-Whitney U test to assess the difference in lead times to electroencephalogram (EEG), diagnosis, and treatment between groups with and without video capture.
Background: A catheter in femoral nerve block (F-Cath) is an effective regional analgesia technique in total knee arthroplasty (TKA) but results in significant quadriceps weakness. The femoral triangle catheter (FTB-Cath) seems to be an interesting alternative. In this study, we aim to demonstrate that the nerve block administration for analgesic purposes via an FTB-Cath results in less quadriceps weakness than via an F-Cath.
View Article and Find Full Text PDFObjective: Epilepsy is common in patients with PIGN diseases due to biallelic variants; however, limited epilepsy phenotyping data have been reported. We describe the epileptology of PIGN encephalopathy.
Methods: We recruited patients with epilepsy due to biallelic PIGN variants and obtained clinical data regarding age at seizure onset/offset and semiology, development, medical history, examination, electroencephalogram, neuroimaging, and treatment.
Background: Abundant anatomic descriptions exist of the posterior cruciate ligament (PCL) and menisco-femoral ligaments (MFLs). There is broad agreement that the PCL is composed of two bundles and inserts on the femur near the distal cartilage. However, a different configuration with a single bundle and a complex femoral insertion has been reported.
View Article and Find Full Text PDFArticle Synopsis
- ALG13 is crucial for synthesizing a specific molecule necessary for glycosylation, and mutations in this gene cause a rare form of epilepsy called EIEE36, also classified as ALG13-CDG.
- Despite being a glycosylation disorder, cases of ALG13-CDG do not exhibit the expected glycosylation defects typically found in other disorders.
- A study identified 29 new cases affected by ALG13 mutations, revealing a high prevalence of West syndrome, with patients responding well to certain treatments like adrenocorticotropic hormone and a ketogenic diet for managing epilepsy.