With the vast increase in spinal surgery research and accessibility, critical evaluation of studies is paramount. Historically, P values and confidence intervals have been the gold standard, but more recently, the inclusion of the Fragility Index has brought a more holistic approach. The Fragility Index aims to communicate the robustness of a trial and how tenuous statistical significance may be. It can be used in conjunction with more traditional methods for evaluating research.
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http://dx.doi.org/10.1097/BSD.0000000000001668 | DOI Listing |
Biomedicines
November 2024
Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy.
: Dominant mutations in are known to cause vascular Ehlers-Danlos syndrome (vEDS) by impairing extracellular matrix (ECM) homeostasis. This disruption leads to the fragility of soft connective tissues and a significantly increased risk of life-threatening arterial and organ ruptures. Currently, treatments for vEDS are primarily symptomatic, largely due to a limited understanding of its underlying pathobiology and molecular mechanisms.
View Article and Find Full Text PDFFront Genet
December 2024
Department of Pediatrics, West China Second University Hospital, Chengdu, Sichuan, China.
Background: Autosomal recessive cutis laxa type 1B (ARCL1B) is an extremely rare disease characterized by severe systemic connective tissue abnormalities, including cutis laxa, aneurysm and fragility of blood vessels, birth fractures and emphysema. The severity of this disease ranges from perinatal death to manifestations compatible with survival. To date, no cases have been reported in the Chinese population.
View Article and Find Full Text PDFiScience
December 2024
Guangzhou Municipal Key Laboratory of Metabolic Diseases and Reproductive Health, The Affiliated Guangdong Second Provincial General Hospital of Jinan University, Guangzhou, China.
AT-rich sequence can cause structure variants such as translocations and its instability can be accelerated by replication stresses. When human 16p11.2 or 22q11.
View Article and Find Full Text PDFAmyotroph Lateral Scler Frontotemporal Degener
January 2025
University Grenoble Alpes, Grenoble, France.
: This study determined real-life care trajectories before and after initiation of noninvasive ventilation (NIV) in patients with amyotrophic lateral sclerosis (ALS). Caregiver adherence to respiratory management recommendations and the associated survival rate of people with ALS were also assessed. : Data were obtained from a tertiary center prospective ALS database that included 10 years of follow-up data for people with ALS.
View Article and Find Full Text PDFOrphanet J Rare Dis
December 2024
Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.
Background: Epidermolysis bullosa (EB) comprises a group of genetically and clinically heterogeneous diseases characterized by skin fragility and blistering. EB is incurable, and treatment consists of preventing blisters in addition to painful and time consuming skin care, often performed by the parents, in addition to monitoring other symptoms in cases of severe EB.
Results: The purpose of this study was to explore parental experiences of caring for a child with EB.
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