Results 31 to 40 of about 41,636 (216)

Progressive non-infectious anterior vertebral fusion, split cord malformation and situs inversus visceralis

BMC Musculoskeletal Disorders, 2006
Background Progressive non-infectious anterior vertebral fusion is a unique spinal disorder with distinctive radiological features. Early radiographic findings consist of narrowing of the anterior aspect of the intervertebral disk with adjacent end plate
Grill Franz, Ghachem Maher, Chehida Farid, Al Kaissi Ali, Klaushofer Klaus   +4 more
doaj   +1 more source

Impaired Chaperone‐Mediated Autophagy Accelerates Intervertebral Disc Degeneration by Inducing MIDN Accumulation to Target TSC2 for Proteasomal Degradation

Advanced Science, EarlyView.
This graphical abstract illustrates how chaperone‐mediated autophagy (CMA) regulates intervertebral disc degeneration (IDD). Under normal homeostasis (B), CMA degrades cytoplasmic Midnolin (MIDN) to maintain proteostasis. Under inflammatory stress (A), impaired CMA leads to cytoplasmic MIDN accumulation.
Xianglong Chen, Haiyang Gao, Wang Wu, Pengzhi Shi, Yuhang Chen, Anran Zhang, Zhangrong Cheng, Wenbo Wu, Zimu Yu, Yukun Zhang   +9 more
wiley   +1 more source

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

Coluna/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, VINÍCIUS TAPIE GUERRA E SILVA, LUIZ EDUARDO PEREIRA COSTA ASSIS DE ALMEIDA, RICARDO DE SOUZA PORTES MEIRELES, GUILHERME DE REZENDE LOPES, ALEXANDRE PEIXOTO DE MELLO, PAULO CESAR ALMEIDA, LUIS EDUARDO CARELLI TEIXEIRA DA SILVA   +7 more
doaj   +1 more source

Development of the Synarcual in the Elephant Sharks (Holocephali; Chondrichthyes): Implications for Vertebral Formation and Fusion. [PDF]

PLoS ONE, 2015
The synarcual is a structure incorporating multiple elements of two or more anterior vertebrae of the axial skeleton, forming immediately posterior to the cranium.
Zerina Johanson, Catherine Boisvert, Anton Maksimenko, Peter Currie, Kate Trinajstic   +4 more
doaj   +1 more source

Deubiquitination of Vangl by USP6 and USP32 Regulates Planar Cell Polarity Signaling

Advanced Science, EarlyView.
Compartment‐specific deubiquitination controls Vangl dosage and planar cell polarity signaling. USP6 and USP32 regulate distinct subcellular pools of Vangl by removing distinct ubiquitin modifications from Vangl proteins. This regulatory mechanism safeguards PCP‐dependent embryonic morphogenesis, while aberrant USP32‐dependent stabilization of VANGL ...
Fangzi Zha, Di Feng, Ziru Xue, Zhiying Liu, Xiaochen Lin, Zhe Wang, Ling Xu, Jasper Fuk Woo Chan, Martin Cheung, Michael Shing Yan Huen, Yusong Guo, Kui Ming Chan, Yun Liu, Bo Gao   +13 more
wiley   +1 more source

Spinal Involvement in Charge Syndrome: Implications for Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel del Campo Casanelles, Marilyn C. Jones, Daniela Carvalho, Lynne M. Bird   +5 more
wiley   +1 more source

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

American 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, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

LAMINOPLASTY AND CORPECTOMY IN THE TREATMENT OF CERVICAL SPONDYLOTIC MYELOPATHY

Coluna/Columna
Introduction: Cervical Spondylotic myelopathy (CSM) is a disabling manifestation of extended cervical stenosis characterized by pronounced neurological dysfunction. Decompressive interventions contribute to significant regression of symptoms and, in some
Dreval’ Maxim Dmitrievich, Arestov Sergey Olegovich, Petrosyan David Vazgenovich, Kashcheev Alexey Alexeevich, Vershinin Andrey Vyacheslavovich, Poltorako Ekaterina Nikolaevna, Gushcha Artem Olegovich   +6 more
doaj   +1 more source

Lumbopelvic fixation: a surgical alternative for lumbar stability

Coluna/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, Rodolfo Ortiz Soto, Enrique Vargas Uribe, José María Jiménez Avila   +3 more
doaj   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source