Publications by authors named "N Ben Lagha"
Traumatic cervical spine spondyloptosis: A systematic review.
J Craniovertebr Junction Spine
March 2022
Article Synopsis
- Spondyloptosis is an extremely rare and severe type of cervical spine injury where one vertebra slips completely over another, making it difficult to manage due to its rarity and the serious condition of patients.
- The study aimed to analyze clinical and imaging findings, along with optimal management strategies, by reviewing 66 cases of traumatic cervical spondyloptosis sourced from various medical databases.
- The majority of the reviewed cases involved male patients, with road traffic accidents being the leading cause, and outcomes varied significantly, with some patients presenting no deficits and others facing severe impairments as indicated by the American Spinal Injury Association Impairment Scale.
Article Synopsis
- - The study aimed to compare clinical features of patients with classical facioscapulohumeral muscular dystrophy (FSHD) against the genetic and epigenetic profiles of FSHD1 and FSHD2.
- - Researchers examined 103 patients, identifying 64 with FSHD1 and 20 with FSHD2, noting that those with a D4Z4 repeat length of 9-10 units showed significant clinical severity compared to other FSHD1 patients.
- - The findings suggest a continuum between FSHD1 and FSHD2 due to overlap in patient characteristics, prompting a reevaluation of the established repeat size thresholds for these conditions.
Facioscapulohumeral muscular dystrophy (FSHD) has been shown to be related to genetic and epigenetic derepression of DUX4 (mapping to chromosome 4), a gene located within a repeat array of D4Z4 sequences of polymorphic length. FSHD type 1 (FSHD1) is associated with pathogenic D4Z4 repeat array contraction, while FSHD type 2 (FSHD2) is associated with SMCHD1 variants (a chromatin modifier gene that maps to the short arm of chromosome 18). Both FSHD types require permissive polyadenylation signal (4qA) downstream of the D4Z4 array.
View Article and Find Full Text PDFIn humans, intrauterine growth retardation is correlated to high levels of serum IGF binding protein-1 (IGFBP-1). This present study analyzes in vivo the impact of circulating IGFBP-1 on body growth associated to bone mineralization and carbohydrate resources. Transgenic mice used in this work overexpressed human IGFBP-1 in liver from embryonic day (E)14.
View Article and Find Full Text PDF