Results 151 to 160 of about 2,326,263 (272)

Severe Phenotype in an Indian Family With Progressive Pseudorheumatoid Arthropathy of Childhood

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive pseudorheumatoid arthropathy of childhood (PPAC) is a rare autosomal recessive progressive condition that affects the cartilage of joints and bones. The symptoms of PPAC include stiffness of the joints, bony swelling of the toes and fingers, short stature, kyphosis, and muscle weakness.
Narinder Singh   +5 more
wiley   +1 more source

The Roles of Forkhead Box O3a (FOXO3a) in Bone and Cartilage Diseases - A Narrative Review. [PDF]

open access: yesDrug Des Devel Ther
Wu Z   +10 more
europepmc   +1 more source

Musculoskeletal Phenotypes of 19 Patients With X‐Linked HNRNPH2‐Related Neurodevelopmental Disorder: A Prospective Case Series

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Detailed clinical phenotypes have been previously reported for 33 individuals with X‐linked HNRNPH2‐related neurodevelopmental disorder. Of these, 75% self‐reported a musculoskeletal abnormality, including hip dysplasia, scoliosis, kyphosis, lordosis, pes planus, arthritis, and missing spinous processes.
Ambar Garcia   +6 more
wiley   +1 more source

Differential Diagnosis of Mucopolysaccharidoses Types I, II, III, IVA, and VI Through Analysis of Leukocytic Inclusions

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mucopolysaccharidoses (MPS) are lysosomal storage disorders characterized by the accumulation of glycosaminoglycans (GAGs), which can lead to cytoplasmic alterations in leukocytes. The objective of this study was to characterize leukocyte inclusions in patients with different types of MPS and assess their diagnostic relevance.
Márcio A. W. Melo   +5 more
wiley   +1 more source

Complications and Clinical Outcomes Following Modified Endoscopic Denker's With Pyriform Aperture Preservation: A Prospective Analysis

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background The modified endoscopic Denker's (MED) approach provides access to all maxillary sinus (MS) walls for resection of various MS and retromaxillary pathologies, but the anteromedial maxilla has historically been resected. This study determined complication rates and outcomes following MED with pyriform aperture (PA) preservation ...
Yasser Almansour   +5 more
wiley   +1 more source

Healing Following Endoscopic Reconstruction of the Anterior Skull Base in Patients With Sinonasal Malignancies

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Healing dynamics after anterior skull base (ASB) reconstruction following transnasal endoscopic surgery (TES) for sinonasal malignancies remain poorly characterized. This study aimed to describe the postoperative healing process, quantify time to healing, identify factors influencing healing, and assess radiologic evolution over ...
Giacomo Contro   +22 more
wiley   +1 more source

Development and Reliability Testing of the Sinonasal Assessment of Reepithelialization, a Novel Wound Healing Scale to Assess Postoperative Healing

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Sinus and skull base surgery create areas of demucosalized bone and cartilage in the sinonasal cavity, yet no standardized system exists to describe the progressive healing of these wounds. The goal of this study was to develop the novel Sinonasal Assessment of Reepithelialization (SNARE) and perform parametric testing including ...
Rohan Bellary   +20 more
wiley   +1 more source

Engineered 3D Fibronectin‐Based Environments Modulate the Pathogenic Profile of Arthritic Synovial Fibroblasts

open access: yesAdvanced NanoBiomed Research, EarlyView.
Fibroblast behavior is shaped by the surrounding microenvironment, yet conventional culture systems often fail to capture disease‐relevant phenotypes. Here, platform‐dependent responses of healthy and arthritic synovial fibroblasts are examined across 2D and 3D culture systems. Distinct inflammatory and proliferative signatures emerge, highlighting how
Aneesah Khan   +13 more
wiley   +1 more source

A critical reappraisal of the carotid sinus and carotid bulb: Distinguishing neurohistological function from vascular geometry

open access: yesThe Anatomical Record, EarlyView.
This review redefines the carotid bulb (CB) as a variable geometric dilation shaped by hemodynamics and the carotid sinus (CS) as a conserved neurohistological baroreceptor field. Distinguishing these entities clarifies a century of anatomical confusion and links geometry, neurohistology, and clinical interpretation within a unified framework ...
Răzvan Costin Tudose   +2 more
wiley   +1 more source

Oestrogens, joint disease, and cartilage. [PDF]

open access: yesAnnals of the Rheumatic Diseases, 1991
C L, Chander, T D, Spector
openaire   +2 more sources

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