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Multi-Ligament Reconstruction in an Adolescent Female Affected by Congenital Femoral Deficiency and Complete Anterior and Posterior Cruciate Ligament agenesis: A Case Report.
Clin Pract
December 2024
Complex Operational Unit of Sports Traumatology and Joint Reconstruction, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Largo Agostino Gemelli 8, 00168 Roma, Italy.
Multi-ligament reconstruction in adolescent patients affected by congenital femoral deficiency is an extremely rare and delicate surgical procedure. There are very few reported cases of complete anterior and posterior cruciate ligament agenesis in these patients. We present a complex case of a 16-year-old girl affected by congenital femoral deficiency and ipsilateral tibial hypoplasia who was treated successfully for a complete agenesis of the anterior (ACL) and posterior (PCL) cruciate ligament with single-sitting ACL and PCL reconstruction.
View Article and Find Full Text PDFWhy do patients with isolated PCL rupture experience no subjective knee joint instability during walking? An biomechanical study.
Front Bioeng Biotechnol
January 2025
Department of Orthopaedics, Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences), Southern Medical Universit, Guangzhou, China.
Objective: The aim of this study is to assess the kinematic changes in the knee joint during walking in patients with isolated PCL-deficiency (PCLD) to determine the presence of walking-related joint instability (mechanical instability-abnormal displacement form structural damage). Additionally, the study seeks to provide biomechanical insights into the observed differences between subjective and objective assessments.
Methods: 35 healthy volunteers and 27 patients with isolated PCLD (both involved and uninvolved sides) were included in the study.
Possible involvement of vitamin K insufficiency in the progression of cervical ossification of the posterior longitudinal ligament.
Sci Rep
January 2025
Department of Orthopaedics, Jichi Medical University School of Medicine, Tochigi, 329-0498, Japan.
Ossification of the posterior longitudinal ligament of the vertebral column (OPLL) is a disease characterised by ectopic bone formation in the spinal ligament that causes progressive neurological impairment. However, there are no suitable treatments for OPLL. Here, we compared the general characteristics and haemostasis of patients with OPLL and those with cervical spondylotic myelopathy.
View Article and Find Full Text PDFAlkaptonuria presenting as lumbar degenerative disease: A case report and literature review.
Medicine (Baltimore)
January 2025
Ningbo Medical Center LiHuiLi Hospital, Ningbo, Zhejiang, PR China.
Rationale: Alkaptonuria (AKU) is a rare, inherited metabolic disease caused by deficient activity of homogentisic acid oxidase, leading to the accumulation of homogentisic acid and its oxidized product, benzoquinone acetic acid. These compounds cause black discoloration of cartilage, degeneration, inflammation, and calcification of intervertebral disks and large joints, resulting in pain and impaired quality of life. Despite its debilitating effects, there are no curative treatments for AKU, and management remains supportive.
View Article and Find Full Text PDFA zebrafish model of nicotinamide adenine dinucleotide (NAD) deficiency-derived congenital disorders.
bioRxiv
January 2025
Department of Cell Biology, Van Andel Institute, Grand Rapids, MI.
Congenital NAD deficiency disorder (CNDD) is a multisystem condition in which cardiac, renal, vertebral, and limb anomalies are most common, but anomalies in all organ systems have been identified. Patients with this condition have biallelic pathogenic variants involving genes in the nicotinamide adenine dinucleotide (NAD) synthesis pathway leading to decreased systemic NAD levels. CNDD anomalies mimic the clinical features described in vertebral-anal-cardiac-tracheoesophageal fistula-renal-limb (VACTERL) association raising the possibility that CNDD and VACTERL association possess similar underlying causes.
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