Results 41 to 50 of about 29,732 (199)
Skeletal Dysplasia During the Bronze Age in Northeast Thailand (3000–2500 BP)
International Journal of Osteoarchaeology, EarlyView.ABSTRACT This study examines a case of skeletal dysplasia in an adult male (B290) from the Bronze Age at the site of Ban Non Wat, Northeast Thailand. Skeletal dysplasia, a group of genetic disorders affecting bone and cartilage growth, presents diagnostic challenges due to overlapping clinical features.
Nuttheera Kaoboriboon +5 more
wiley +1 more source
International Journal of Osteoarchaeology, EarlyView.ABSTRACT This study presents an integrative approach to chronic disease and disability in a Portuguese nun who died in 1779. The aim is to interpret her condition by combining osteopathological and burial context evidence with written sources. It offers a concise example of how bringing these sources together can enhance pathological interpretation and
Nathalie Antunes‐Ferreira
wiley +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT Noonan syndrome (NS) is a rare multisystemic condition among the RASopathy group, characterized by a broad phenotypic spectrum and genetic variability. It results from pathogenic variants in genes regulating the RAS/MAPK pathway, affecting cell proliferation and differentiation.
Romain Martineau +10 more
wiley +1 more source
Sagittal curve and high metal density in adolescent idiopathic scoliosis
Coluna/Columna, 2014 Objectives: To analyze radiographically the postoperative kyphosis from patients undergoing surgical treatment for AIS with pedicle screws in all vertebrae included in the arthrodesis. Methods: Retrospective study.
Fabio Araújo Fernandes +6 more
doaj +1 more source
Applied Sciences, 2023 Although Kyphosis, an excessive forward rounding of the upper back, can occur at any age, adolescence is the most common time for Kyphosis. Surgery is frequently performed on Kyphosis patients; however, the condition may persist after the operation.
Alok Singh Chauhan +7 more
doaj +1 more source
Rapid generation of prion disease models using AAV‐delivered PrP variants in knockout mice
Brain Pathology, EarlyView.We developed a rapid AAV‐based system to generate prion disease models in weeks rather than months. Following systemic AAV9P31 delivery of modified PrP to knockout mice, we achieved brain‐wide expression and successful propagation of both classical (RML) and atypical (GSS‐A117V) prion strains.
Maitena San‐Juan‐Ansoleaga +11 more
wiley +1 more source
Brain Pathology, EarlyView.A single amino acid change (L108I) combined with PrP overexpression drives spontaneous atypical prion formation in mice, enabling also efficient propagation of diverse prion strains. This model allows studying how spontaneous prion diseases arise and provides powerful tools for investigating strain emergence, transmission barriers, and mechanisms ...
Hasier Eraña +20 more
wiley +1 more source
BMC Geriatrics, 2021 Background Hyperkyphosis is common in older adults and associated with low physical function and reduced health related quality of life (HrQol). Improved kyphosis has been previously established in kyphosis-targeted interventions in randomized controlled
Amy Gladin +5 more
doaj +1 more source
Clinical Genetics, EarlyView.We identify a female patient with a homozygous nonsense variant (p.Gln38Ter) in the LYSET gene. This is the first western report of a challenging case of an extensive diagnostic odyssey and demonstrates that the LYSET gene must be considered in the differential diagnosis when M6P‐labeled lysosomal enzymes are altered.
Fernanda Sperb‐Ludwig +5 more
wiley +1 more source
The Journals of Gerontology Series A: Biological Sciences and Medical Sciences, 2003 IN the recent article by de Boer and colleagues, mice carrying a targeted mutation in the XPD gene, which is mutated in the human disorder trichothiodystrophy (TTD) and encodes a DNA helicase that is involved in DNA repair, were found to exhibit osteoporosis and kyphosis as symptoms of premature aging (1).
Glenn S, Gerhard, Claudia J, Kasales
openaire +2 more sources