Results 141 to 150 of about 361,692 (241)
Severe Phenotype in an Indian Family With Progressive Pseudorheumatoid Arthropathy of Childhood
American 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
American 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
American 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
Prenatal Presentation of RMRP‐Related Skeletal Dysplasia: Clinical and Genomic Expansion
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT The RNA subunit of the mitochondrial RNA processing endoribonuclease complex is encoded by RMRP. Biallelic variants in RMRP are known for anauxetic dysplasia 1 (AD), cartilage‐hair hypoplasia (CHH), and metaphyseal dysplasia without hypotrichosis.
Radhakrishnan Periyasamy +21 more
wiley +1 more source
International 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
Prognostic factors associated with outcomes after knee cartilage repair across different procedure types: a systematic review. [PDF]
Knee Surg Relat ResHan JH +7 more
europepmc +1 more source
International 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
The Influence of Running Cadence Manipulation on Acute Cartilage Response in Distance Runners. [PDF]
Scand J Med Sci SportsEvans RJ +4 more
europepmc +1 more source
International 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
Advanced 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