Results 61 to 70 of about 85,725 (306)

Graduation of the Learning Curve from Small to Smaller: Evolution of Tubular Retractors from 18 mm to 14 mm in Management of Lumbar Disc Herniation [PDF]

Journal of Minimally Invasive Spine Surgery and Technique, 2019
Objective While the utility of 16 mm and 18 mm diameter tubular-retractors in the management of prolapsed intervertebral-disc is well-established, there is no published literature on the use of 14 mm tube.
Arvind Gopalrao Kulkarni, Sagar Bhupendra Sharma, Tushar Satish Kunder   +2 more
doaj   +1 more source

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini, Davide Mei, Mara Cavallin, Simona Fiori, Luciana Tramacere, Maria Elena Melica, Giulia Antonelli, Simona Virdò, Elena Parrini, Renzo Guerrini   +9 more
wiley   +1 more source

Expanding the Phenotypic Spectrum of TXNDC15‐Related Ciliopathies to Include Joubert Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic loss‐of‐function variants in TXNDC15 are a known cause of the perinatally lethal ciliopathy Meckel syndrome (MKS). TXNDC15 encodes an endoplasmic reticulum (ER)‐resident thioredoxin‐domain protein required for ciliary transition zone integrity.
Zachary T. Sentell, Robert Geraghty, Juliana E. Arcila‐Galvis, Praveen Dhondurao‐Sudhindar, Sergio Foullerat Cañada, Fulvio D'Abrusco, Bosanka Jocic‐Jakubi, Miguel Barroso‐Gil, Valentina Serpieri, Thomas M. Kitzler, Kate E. Chandler, Eleanor G. Seaby, Gabrielle Wheway, Jennifer C. Dempsey, Dan Doherty, Enza M. Valente, John A. Sayer   +16 more
wiley   +1 more source

Complications in the surgical treatment of 19,360 cases of pediatric scoliosis: a review of the Scoliosis Research Society Morbidity and Mortality database.

, 2023
Study designRetrospective review of a multicenter database.ObjectiveTo determine the complication rates associated with surgical treatment of pediatric scoliosis and to assess variables associated with increased complication rates.Summary of background ...
Knapp, Raymond D, Glassman, Steven D, Ames, Christopher P, Perra, Joseph H, Polly, David W, Berven, Sigurd H, Fu, Kai-Ming G, Shaffrey, Christopher I, Heary, Robert, McCarthy, Richard E, Scoliosis Research Society Morbidity and Mortality Committee, Smith, Justin S, Reames, Davis L   +12 more
core   +1 more source

TTC21B: From Modifier to Causative Gene in Joubert Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic pathogenic variants in TTC21B, encoding the retrograde intraflagellar transport protein IFT139, are a known cause of renal and skeletal ciliopathies. Single heterozygous variants in this gene were found to be enriched in a cohort of patients with various ciliopathy phenotypes, including three individuals with Joubert syndrome (JS), a
Valentina Serpieri, Fulvio D'Abrusco, Anna Pichiecchio, Thouraya Ben Younes, Ichraf Kraoua, Enza Maria Valente   +5 more
wiley   +1 more source

Recurrent Neurodevelopmental Disorder Associated With a Dominant‐Negative TOP2B H63Y Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a 7 year‐old boy with severe neurodevelopmental disorder, medically‐refractory epileptic encephalopathy, hyperkinetic movement disorder, hypotonia, cerebral and cerebellar atrophy and hypomyelination who was found to have a heterozygous de novo TOP2B NM_001330700.2:c.187C>T, p.(His63Tyr) variant.
Zong Yi Ha, Leticia Dinatto, Kirsten Meagher, Colleen Guimond, Jan M. Friedman, Peter C. Stirling, Millan S. Patel   +6 more
wiley   +1 more source

Adolescent Medial Patellofemoral Ligament Reconstruction: A Comparison of the Use of Autograft Versus Allograft Hamstring

Orthopaedic Journal of Sports Medicine, 2018
Background: Recurrent patellar instability is commonly treated with medial patellofemoral ligament reconstruction (MPFLR), and the use of allograft in anterior cruciate ligament reconstructions has demonstrated inferior outcomes.
Nikhil Kumar BS, Tracey P. Bastrom MA, M. Morgan Dennis BS, Andrew T. Pennock MD, Eric W. Edmonds MD   +4 more
doaj   +1 more source

Genetic aspects of adolescent idiopathic scoliosis in a family with multiple affected members: a research article [PDF]

, 2010
\ud \ud \ud \ud Background\ud \ud The etiology of idiopathic scoliosis remains unknown and different factors have been suggested as causal. Hereditary factors can also determine the etiology of the disease; however, the pattern of inheritance remains ...
Licinio, Luciana , Landim, Elcio , Ishida, Akira , Martins, Delio , Marcelo Wajchenberg, Luciana Licinio, Wajchenberg, Marcelo , Elcio Landim, Landim, Elcio, Cavaçana, Natale , Zatz, Mayana, Cavaçana, Natale, Ishida, Akira, Natale Cavaçana, Puertas, Eduardo , Akira Ishida, Lazar, Monize, Lazar, Monize , Wajchenberg, Marcelo, Puertas, Eduardo B, Eduardo Barros Puertas, Monize Lazar, Zatz, Mayana , Delio Eulalio Martins, Martins, Eulalio D, Mayana Zatz, Licinio, Luciana   +26 more
core   +2 more sources

Spinal Involvement in a Pediatric and Adult Cohort of Patients With Arthrogryposis Multiplex Congenita

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT This was a single‐center retrospective observational study with national recruitment from October 2007 to March 2022 at the AMC clinic of the University Hospital Grenoble Alpes (CHUGA). Participants underwent a clinical spinal assessment and spine radiography.
Alicia Mom, Véronique Bourg, Shenhao Dai, Alicia‐Marine Milot, Dominic Perennou, Klaus Dieterich   +5 more
wiley   +1 more source

Polyarticular Septic Arthritis in an Immunocompetent Adult: A Case Report and Review of the Literature

Case Reports in Orthopedics, 2015
Septic arthritis is a clinical emergency requiring prompt diagnosis and treatment to avoid significant morbidity and mortality. Polyarticular septic arthritis (PASA) accounts for 15% of all infectious arthritides and rarely occurs in immunocompetent ...
Annelise Miller, Fahad Abduljabbar, Peter Jarzem   +2 more
doaj   +1 more source