Results 41 to 50 of about 2,391 (154)

Lumbar spinal stenosis: the reliability, sensitivity and specificity of the nerve root sedimentation sign [PDF]

open access: yes, 2015
Introduction: Lumbar spinal stenosis (LSS) is a medical condition in which the spinal canal narrows and compresses the spinal cord and nerves at the level of the lumbar vertebra.
Azizan, Asrul Fahmi
core  

High Occurrence of a Missense Variant (c.471C>A) in the FGF23 Gene Related to Hyperostosis–Hyperphosphatemia Syndrome With a Possible Founder Effect

open access: yesHuman Mutation, Volume 2025, Issue 1, 2025.
Background: The autosomal recessive metabolic disorder hyperostosis–hyperphosphatemia syndrome (HHS) is characterized by hyperphosphatemia, hyperostosis, and recurrent bone lesions. Patients may develop ectopic and vascular calcification and may present diaphyseal pain of the long bones that is misdiagnosed as osteomyelitis.
Maryam Sedghi   +12 more
wiley   +1 more source

Multiomics Identifies Potential Biomarkers in Ankylosing Spondylitis Bone Formation

open access: yesHuman Mutation, Volume 2025, Issue 1, 2025.
Objective: Ankylosing spondylitis (AS) is a long‐term inflammatory condition characterized by intricate pathogenesis and significant genetic predisposition. Current treatment methods cannot completely halt the progression of the disease. The purpose of this research is to discover possible therapeutic targets for AS by integrating Mendelian ...
Lu Yang   +8 more
wiley   +1 more source

Magnetic resonance imaging findings in epileptic cats with a normal interictal neurological examination:188 cases [PDF]

open access: yes, 2017
Epilepsy is a common neurological condition in dogs and cats. Although anincreased likelihood of significant brain lesions with age has been identifiedin neurologically normal dogs with epileptic seizures, the underlyingaetiology of epileptic seizures in
Gutierrez-Quintana, Rodrigo   +6 more
core   +2 more sources

Nuclear Envelope, Nuclear Lamina, and Inherited Disease [PDF]

open access: yes, 2005
The nuclear envelope is composed of the nuclear membranes, nuclear lamina, and nuclear pore complexes. In recent years, mutations in nuclear-envelope proteins have been shown to cause a surprisingly wide array of inherited diseases.
Courvalin, Jean-Claude, Worman, Howard,
core   +4 more sources

A morphological and molecular approach to investigating infectious disease in early medieval Iberia: The necropolis of La Olmeda (Palencia, Spain)

open access: yesAmerican Journal of Biological Anthropology, Volume 185, Issue 1, September 2024.
Abstract Objective Here we investigate infectious diseases that potentially contribute to osteological lesions in individuals from the early medieval necropolis of La Olmeda (6th‐11th c. CE) in North Iberia. Materials and methods We studied a minimum number of 268 individuals (33 adult females; 38 adult males, 77 unknown/indeterminate sex; and 120 non ...
L. Coppola Bove   +4 more
wiley   +1 more source

BMQ [PDF]

open access: yes, 1963
BMQ: Boston Medical Quarterly was published from 1950-1966 by the Boston University School of Medicine and the Massachusetts Memorial ...
Antuna, Juan   +25 more
core  

Heritable and acquired disorders of phosphate metabolism: Etiologies involving FGF23 and current therapeutics [PDF]

open access: yes, 2017
Phosphate is critical for many cellular processes and structural functions, including as a key molecule for nucleic acid synthesis and energy metabolism, as well as hydroxyapatite formation in bone.
Clickenbeard, Erica L.   +1 more
core   +2 more sources

Metabolic profiling of psoriasis vulgaris and palmoplantar pustulosis

open access: yesExperimental Dermatology, Volume 33, Issue 8, August 2024.
Abstract Psoriasis is a chronic inflammatory skin disorder with various subtypes, including psoriasis vulgaris (PV) and palmoplantar pustulosis (PPP). Metabolomics studies have provided insights into psoriasis pathogenesis. However, research on metabolomic alterations in PV and PPP patients is limited.
Yujin Lee   +5 more
wiley   +1 more source

Phenotypic and Genotypic Characterization and Treatment of a Cohort with Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome [PDF]

open access: yes, 2016
Familial tumoral calcinosis (FTC)/hyperostosis-hyperphosphatemia syndrome (HHS) is a rare disorder caused by mutations in the genes encoding fibroblast growth factor-23 (FGF23), N-acetylgalactosaminyltransferase 3 (GALNT3), or KLOTHO.
Arabshahi, Bita   +19 more
core   +1 more source

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