Results 31 to 40 of about 37,906 (184)

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim   +9 more
wiley   +1 more source

Occipitosacral Fusion for Multiple Vertebral Fractures with Kyphotic Deformity in a Patient with Mutilating Rheumatoid Arthritis: A Case Report

open access: yesThe Surgery Journal, 2017
Osteoporotic vertebral fractures are well-known complications of rheumatoid arthritis. The management of multiple vertebral fractures with kyphotic deformity is controversial.
Tetsu Tanouchi   +6 more
doaj   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young   +6 more
wiley   +1 more source

T1 PELVIC ANGLE IN IMPROVEMENT OF PAIN IN HIGH-GRADE LUMBAR SPONDYLOLISTHESIS

open access: yesColuna/Columna
Objective To evaluate the correlation between global sagittal alignment variables and pain improvement after surgery for High-Grade Spondylolisthesis (HGS).
JOSÉ ALBERTO ALVES OLIVEIRA   +7 more
doaj   +1 more source

Helmeted hornbill cranial kinesis: Balancing mobility and stability in a high‐impact joint

open access: yesThe Anatomical Record, EarlyView.
Abstract Prokinesis—in which a craniofacial joint allows the rostrum to move relative to the braincase—is thought to confer diverse advantages in birds, mostly for feeding. A craniofacial joint would, however, be a weak link if cranial stability is important. Paradoxically, we have identified a craniofacial joint in helmeted hornbills (Rhinoplax vigil),
Mike Schindler   +8 more
wiley   +1 more source

Lumbopelvic fixation: a surgical alternative for lumbar stability

open access: yesColuna/Columna, 2014
OBJECTIVE: Lumbopelvic fixation is a valid surgical option to achieving great stability in cases where it is particularly demanded, such as in patients with poor quality bone, degenerative scoliosis, and revision surgeries with modern materials and ...
Gabriel Virgilio Ortiz García   +3 more
doaj   +1 more source

Biomechanical properties of a novel nonfusion artificial vertebral body for anterior lumbar vertebra resection and internal fixation

open access: yesScientific Reports, 2021
The aim of the study was to evaluate the biomechanical properties of a novel nonfused artificial vertebral body in treating lumbar diseases and to compare with those of the fusion artificial vertebral body.
Jiantao Liu   +7 more
doaj   +1 more source

Functional models from limited data: A parametric and multimodal approach to anatomy and 3D kinematics of feeding in basking sharks (Cetorhinus maximus)

open access: yesThe Anatomical Record, EarlyView.
Abstract Basking sharks, Cetorhinus maximus (Gunnerus, Brugden [Squalus maximus], Det Kongelige Norske Videnskabers Selskabs Skrifter, 1765, vol. 3, pp. 33–49), feed by gaping their mouths and gill slits, greatly reorienting their cranial skeletons to filter food from water.
Tairan Li   +12 more
wiley   +1 more source

Artrodesis circunferencial: Plif más tornillos translaminofacetarios

open access: yesColuna/Columna, 2013
OBJETIVO: Evaluar el resultado clínico y radiológico de 10 pacientes operados por patología degenerativa lumbar, en los que se les realizó artrodesis intersomática con injerto óseo tricortical de cresta ilíaca y artrodesis posterolateral instrumentada ...
Javier Ricardo Méndez   +2 more
doaj   +1 more source

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