Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet.

Global metabolomic profiling offers novel opportunities for the discovery of biomarkers and for the elucidation of pathogenic mechanisms that might lead to the development of novel therapies. GLUT1 deficiency syndrome (GLUT1-DS) is an inborn error of metabolism due to reduced function of glucose transporter type 1. Clinical presentation of GLUT1-DS is heterogeneous and the disorder mirrors patients with epilepsy, movement disorders, or any paroxysmal events or unexplained neurological manifestation triggered by exercise or fasting.

Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform.

We analyzed by next-generation sequencing (NGS) 67 epilepsy genes in 19 patients with different types of either isolated or syndromic epileptic disorders and in 15 controls to investigate whether a quick and cheap molecular diagnosis could be provided. The average number of nonsynonymous and splice site mutations per subject was similar in the two cohorts indicating that, even with relatively small targeted platforms, finding the disease gene is not an univocal process. Our diagnostic yield was 47% with nine cases in which we identified a very likely causative mutation.

Plasma radio-frequency-based diskectomy for treatment of cervical herniated nucleus pulposus: feasibility, safety, and preliminary clinical results.

Background And Purpose: Several techniques, including chymopapain, mechanical aspiration, laser-based disk decompression, and endoscopic keyhole surgery, have been proposed as minimally invasive alternatives to fusion for treating cervical disk herniation, though none has gained wide acceptance. The purpose of this study was to assess feasibility, safety, and preliminary clinical results of percutaneous plasma-mediated radio-frequency-based diskectomy for cervical disk herniation.

Methods: Patients (N = 55) with cervical soft disk protrusion were treated over a 29-month period.