Clinical Genetics, Volume 109, Issue 1, Page 181-187, January 2026.We report on the clinical characteristics of three new patients with pathogenic TRRAP variants expanding the syndrome's phenotype. In order to investigate the TRRAP potential involvement in skeletal development, osteoclastogenesis in Patient 1 was evaluated and TRRAP expression in osteoclasts and osteoblasts were analyzed.
Chiara Minotti +17 more
wiley +1 more source
Anterior column reconstruction with mono-segmental fusion and lag screw fixation of sagittal split for burst-split fracture of the thoracolumbar spine. [PDF]
Eur J Trauma Emerg SurgBenneker LM +6 more
europepmc +1 more source
The Phenotypic Spectrum of Miller Syndrome: Insight From a French Cohort
Clinical Genetics, Volume 109, Issue 1, Page 188-193, January 2026.This study expands the clinical spectrum of Miller syndrome by reporting novel features including preaxial defects, facial nevus simplex, and optic atrophy. It also includes the first patients with homozygous DHODH variants, emphasizing the importance of early diagnosis and the variability of presentations, from severe prenatal to mild adult phenotypes.
Marion Aubert Mucca +13 more
wiley +1 more source
Short-Segment Bone Cement-Augmented Pedicle Screw Fixation Combined With Bone Grafting for Management of Kummell Disease With Segmental Instability. [PDF]
Med Sci MonitHuang Y, Chang Z, Wang S, He B.
europepmc +1 more source
Journal of Cellular and Molecular Medicine, Volume 30, Issue 1, January 2026.ABSTRACT During intervertebral disc degeneration (IDD), cartilage endplate (CEP) cells undergo calcification and ossification, relying primarily on glycolysis for energy metabolism. Leptin (LEP) initiates the IDD, while its underlying mechanism related to glycolysis remains elusive in CEP cells. To investigate the underlying mechanism of LEP on IDD, an
Haoxi Li +7 more
wiley +1 more source
Evaluation of MRI-Based Region-specific Vertebral Bone Quality Score for Bone Mineral Density in Lumbar Fusion Surgery. [PDF]
Global Spine JZhao X, Wang W, Chen X, Lu S.
europepmc +1 more source
The origin and evolution of air sacs in pterosaurs and their forerunners
Journal of Anatomy, Volume 248, Issue 1, Page 94-107, January 2026.Pneumatized pterosauromorph vertebrae and their phylogenetic context. Abstract Although the existence of postcranial pneumaticity and the inferred presence of air sacs connected to the lungs are well established in Pterosauria, the origin of this system in pterosaurs remains unclear. We investigated skeletal pneumaticity in the Triassic pterosauromorph
Tito Aureliano +4 more
wiley +1 more source
Rehabilitation and Pain Management in Klippel-Feil Syndrome Associated With Caroli's Disease, Scoliosis, and Aphasia. [PDF]
CureusMajit AA, Aymane A, El Oumri AA.
europepmc +1 more source
Orthopaedic Surgery, Volume 18, Issue 1, Page 194-201, January 2026.For revision CVJAs with persistent ventral compression after failed posterior fixation, anterior transoral odontoid reduction combined with clivocervical fusion achieved direct decompression, restored clivo‐axial angle, resolved spinal cord compression, and provided stable fusion with significant neurological recovery, offering an effective salvage ...
Zhenlei Liu +12 more
wiley +1 more source
Tips and Pitfalls of Surgical Techniques for Scoliotic Deformities in Neurofibromatosis Type 1. [PDF]
J Clin MedKaspiris A +8 more
europepmc +1 more source