Results 121 to 130 of about 50,813 (265)

Diagnostic Accuracy of Intraoperative Neurophysiologic Monitoring in Spinal Deformity Surgery: Systematic Review and Meta-Analysis. [PDF]

Global Spine J
O'Reilly BT, Dunker AM, Domagala DM, Reynolds AC, Garcia C, Arakal S, Henry GK, Johnston DT, Dharnipragada RS, Matsoukas S, Gallas T, Fulcomer NC, Ahmadi SK, Lee A, Klineberg EO.   +14 more
europepmc   +1 more source

Severe Phenotype in an Indian Family With Progressive Pseudorheumatoid Arthropathy of Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive pseudorheumatoid arthropathy of childhood (PPAC) is a rare autosomal recessive progressive condition that affects the cartilage of joints and bones. The symptoms of PPAC include stiffness of the joints, bony swelling of the toes and fingers, short stature, kyphosis, and muscle weakness.
Narinder Singh, Arpita Neogi, Liliane H. Gibbs, Jagdish Soni, Elizabeth Chao, Virginia Kimonis   +5 more
wiley   +1 more source

Three-Dimensional Measurement and Analysis of Rod Deformation for Spinal Deformity Correction: A Novel Methodology. [PDF]

Bioengineering (Basel)
Hendricks SW, Hendricks CJ, Ellingson AM, Polly DW, Erdman AG.   +4 more
europepmc   +1 more source

Musculoskeletal Phenotypes of 19 Patients With X‐Linked HNRNPH2‐Related Neurodevelopmental Disorder: A Prospective Case Series

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Detailed clinical phenotypes have been previously reported for 33 individuals with X‐linked HNRNPH2‐related neurodevelopmental disorder. Of these, 75% self‐reported a musculoskeletal abnormality, including hip dysplasia, scoliosis, kyphosis, lordosis, pes planus, arthritis, and missing spinous processes.
Ambar Garcia, Rachel Salazar, Nicole Holuba, Franklin E. Paulino, Michael G. Vitale, Jennifer M. Bain, Joshua Hyman   +6 more
wiley   +1 more source

Perioperative teriparatide in adult spinal deformity: a retrospective comparative cohort study. [PDF]

Ann Med Surg (Lond)
Safari Dehnavi N, Bagherzadeh S, Rubio DS, Lorimer AR, Saleh D, Rao G, Screven R, Rainone G, Alikhani P, Rostami M.   +9 more
europepmc   +1 more source

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops‐Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nonimmune hydrops fetalis (NIHF) is characterized by abnormal fluid accumulation in ≥ 2 fetal compartments and may be genetic. The incremental diagnostic yield of prenatal exome sequencing (ES) for NIHF following a negative standard workup was previously explored on 22 cases.
Stephanie M. Rice, Mona M. Makhamreh, Sascha Wodoslawsky, Mariella Toro, Elizabeth Critchlow, Brandy Firman, Ruby Liu, Babi Ramesh Nallamilli, Madhuri Hegde, Seth I. Berger, Huda B. Al‐Kouatly   +10 more
wiley   +1 more source

Age at Initial Surgery and Surgical Burden in Congenital Spinal Deformity. [PDF]

Medicina (Kaunas)
Abdaliyev S, Yestay D, Bekarissov O, Vissarionov S, Saginova D, Baidarbekov M, Serikov S.   +6 more
europepmc   +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

Risk Factors for Spinal Cord Monitoring Alerts in Paediatric Patients Undergoing Spinal Deformity Surgery. [PDF]

Cureus
Lee M, James S, Kefalas D, Jones A, Ahuja S, Moideen N, Howes J, McCarthy MJ.   +7 more
europepmc   +1 more source

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source