Results 31 to 40 of about 5,692 (182)
An Osteological Study of Occipitocervical Synostosis: Its Embryological and Clinical Significance [PDF]
Journal of Clinical and Diagnostic Research, 2013 Background: Synostosis or fusion of atlas with occipital bone is known as occipitocervical synostosis, occipitalization of the atlas, or atlanto-occipital fusion. This is a rare congenital malformation at craniovertebral junction. Its incidence ranges
Radhika Paramesh Mudaliar +4 more
doaj +1 more source
Review of Congenital Myasthenic Syndrome Caused by Pathogenic Variants in GFPT1
Muscle &Nerve, EarlyView.ABSTRACT Glutamine:fructose‐6‐phosphate transaminase 1 (GFPT1) catalyzes the first and rate‐limiting step of the hexosamine biosynthetic pathway (HBP) to generate UDP‐GlcNAc. GFPT1 exon 9 is specifically spliced in in striated muscles, which makes a long isoform of GFPT1 (GFPT1‐L).
Kinji Ohno +5 more
wiley +1 more source
International Journal of Osteoarchaeology, EarlyView.ABSTRACT This osteobiography explores the life history of an adolescent who lived during the early‐mid Bronze Age (c. 1000–700 bce) and was buried at Nyaung'gan, a site in north‐central Myanmar. Burial 3b had multiple skeletal lesions, and their bones were covered in well‐remodeled subperiosteal new bone.
Anna Willis +3 more
wiley +1 more source
SAGE Open Medical Case Reports, 2023 Congenital proximal radioulnar synostosis limits prono-supination and is often well tolerated. Only one publication in the literature describes a fracture associated with this malformation. We report a case of radius and ulna shaft fractures in a 35-year-
Yassine Saadi +2 more
doaj +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT Objective To review the published literature on prenatal findings of COL2A1‐related SEDC, summarizing reported imaging and molecular variants, and to describe two additional prenatal cases evaluated at a tertiary referral center. Method A narrative review with a systematic search strategy was conducted to analyze prenatal imaging findings ...
López‐Rodríguez Larissa +10 more
wiley +1 more source
La Revue Marocaine de Chirurgie Orthopédique et Traumatologique (RMACOT)Post-traumatic radioulnar synostosis is a rare complication of forearm or elbow injury that can have debilitating consequences. Risk factors include aspects of the initial trauma and the surgical management of that trauma.
Oussama El Alaoui +4 more
doaj +1 more source
Smart Molecules, EarlyView.A 3D‐bioprinted platform with stem cells activates “nerve‐bone” signaling by enabling the spatiotemporal delivery of Nell‐1. This activation enhances neurovascular and bone regeneration through the CYFIP1 cascade. In rat calvarial defects, the platform doubled bone regeneration and nerve repair and tripled vascular density, resulting in superior ...
Minjia Zhu +11 more
wiley +1 more source
Andrology, EarlyView.ABSTRACT Sex chromosome aneuploidies represent a heterogeneous group of chromosomal conditions, in which phenotypic complexity generally increases with the number of supernumerary sex chromosomes. While Turner syndrome and sex chromosome trisomies are relatively well characterized, less is known about congenital malformations in sex chromosome ...
Anna Colding +3 more
wiley +1 more source
Proximal tibiofibular synostosis
Joint Diseases and Related Surgery, 2017 A 22-year-old male patient admitted to our clinic with mild pain in left knee. Pain had started 10 years ago and there was no history of trauma. Pain was increased with kneeling. No abnormality was detected on physical examination. Imaging results revealed proximal tibiofibular synostosis in left knee.
Atik, O. Sahap, Kaptan, Ahmet Yigit
openaire +3 more sources
An iatrogenic proximal radioulnar synostosis: a case report and review of literature
Chinese Journal of Traumatology, 2014 The most common cause of proximal radioulnar synostosis in adults is traumatic, usually after forearm fractures. Disabling complications are mainly loss of rotatory movements of the forearm.
Singh Varun Kumar
doaj