This review highlights six genetic diseases of the bone, aiming to provide clinicians and researchers with updated information on their diagnosis and treatment. It also includes an assessment of common clinical and radiographic findings, along with pathophysiology related to diseases.
Colin Jones, Ambalangodage C. Jayasuriya
wiley +1 more source
N-terminal proBNP adds prognostic value to high-sensitivity cardiac troponin I in elective thoracic surgery: an observational cohort study. [PDF]
Alonso M +15 more
europepmc +1 more source
Abstract Systemic light chain (AL) amyloidosis is a rare, acquired protein misfolding disorder characterized by extracellular deposition of misfolded immunoglobulin light chain fibrils, resulting in organ damage. Treatment is based on anti‐plasma cell regimens derived from multiple myeloma therapy.
Alexander Carpinteiro +15 more
wiley +1 more source
Bioelectrical impedance analysis and physical function improved risk prediction for cardiac dysfunction in hemodialysis patients. [PDF]
Zhang W +5 more
europepmc +1 more source
Screening for HFpEF in pacemaker patients: Study design and protocol of the PM-HFpEF study. [PDF]
Santos E +13 more
europepmc +1 more source
Mac-2 binding protein glycosylation isomer contributes to identify advanced Fontan-associated liver disease: A retrospective cohort study. [PDF]
Kitsugi K +9 more
europepmc +1 more source
The Role of Endothelin‐1 in Autoimmune Diseases: Mechanistic Insights and Therapeutic Targets
The Role of Endothelin‐1 in Autoimmune Diseases. NF‐κB: nuclear factor kappa‐B; MAPK: mitogen‐activated protein kinase; PI3K: phosphoinositide 3‐kinase; ROS: reactive oxygen species; CTGF: connective tissue growth factor; TGF‐β: transforming growth factor‐β.
Xun Gong +5 more
wiley +1 more source
Achondroplasia management in the era of targeted therapies: a meta-analysis of C-type natriuretic peptide analogs. [PDF]
Kamrul-Hasan ABM +6 more
europepmc +1 more source
Calreticulin Type 26 Mutation in Myelofibrosis: A Rare Variant With Diagnostic Challenges
ABSTRACT Background Myeloproliferative neoplasms (MPNs) are clonal hematologic disorders commonly driven by mutations in JAK2, MPL, or CALR. Because routine CALR assays are largely optimized for the canonical Type 1 and Type 2 exon 9 variants, rare noncanonical mutations may be missed, creating diagnostic challenges.
Teresa Maltese +6 more
wiley +1 more source

