Objective: This analysis aims to clinically and socially contextualize a set of human remains (TBK Br8) with severe systemic skeletal dysmorphology from Tashbulak, Uzbekistan (8th-11th c. Common Era [CE]).
Materials: One well-preserved and nearly-complete human skeleton.
Methods: Remains were assessed and documented macroscopically.
Results: Endochondrally derived skeletal elements in TBK Br8 were observed to be underdeveloped. Extensive proliferation of bone had invaded all but one observable joint, variably occluding most intervertebral foramina, the lumbar vertebral canal, and transverse foramina of the cervical spine.
Conclusions: The remains were diagnosed with spondyloepiphyseal dysplasia (SED), possibly the subtype progressive pseudorheumatoid dysplasia (spondyloepiphyseal dysplasia tarda with progressive arthropathy. Rendered functionally paraplegic by the time of death, TBK Br8 likely suffered from widespread areas of numbness, tingling, weakness and/or pain in the lower limbs and thorax, and perhaps transient psychological symptoms.
Significance: The severity of TBK Br8's disease would have had significant implications to their daily interactions in a society with deep roots in nomadic lifeways, and is a testament to the care required to enable survival.
Limitations: Radiology, genetic, and histologic analyses are unavailable.
Suggestions For Future Research: Focused genetic testing for mutations previously shown to be associated with spondyloepiphyseal dysplasias.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1016/j.ijpp.2021.06.009 | DOI Listing |
Calcif Tissue Int
January 2025
Rheumatology department, Hôpital E. Herriot, Lyon, France.
This study explores FD/MAS patient's perceptions about their disease and its impact on their quality of life. We have evaluated quality of life (QoL) in French Fibrous Dysplasia/MacCune-Albright Syndrome (FD/MAS) patients using a qualitative approach with focus groups to explore perceptions, symptoms and limitations associated with FD/MAS and a quantitative method with the Short Form-36 (SF36) to quantify QoL. Focus groups revealed the heterogeneity of FD forms and allowed for understanding the reasons of reduced QoL.
View Article and Find Full Text PDFCalcif Tissue Int
January 2025
Department of Endocrinology, Odense University Hospital, Odense, Denmark.
Osteogenesis imperfecta (OI) is a group of rare genetic disorders most commonly caused by reduced amount of biologically normal collagen type I, a structural component of the gastrointestinal tract and abdominal wall. The risk of gastrointestinal (GI) disease in individuals with OI is not well understood, despite GI complaints being frequently reported by the OI population. To investigate the risk of GI diseases in individuals with OI.
View Article and Find Full Text PDFCalcif Tissue Int
January 2025
Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan.
Osteogenesis imperfecta (OI) is an inheritable skeletal disorder characterized by bone fragility often caused by pathogenic variants in the COL1A1 gene. Current OI mouse models with a glycine substitution in Col1a1 exhibit excessive severity, thereby limiting long-term pathophysiological analysis and drug effect assessments. To address this limitation, we constructed a novel OI mouse model mimicking a patient with OI type III.
View Article and Find Full Text PDFBMC Oral Health
January 2025
Department of Oral Implantology, School and Hospital of Stomatology, Guangdong Engineering Research Center of Oral Restoration and Reconstruction & Guangzhou Key Laboratory of Basic and Applied Research of Oral Regenerative Medicine, Guangzhou Medical University, Guangzhou, 510182, China.
Background: Fibrous dysplasia (FD) is a self-limiting benign disease with slow progression in which the normal bone is replaced by dysplastic fibrous tissue. The craniofacial skeleton is one of the most commonly affected areas, and it can create unique challenges in dental implant therapy. This case aims to report an unusual presentation of FD localized in the alveolar crest bone of the edentulous site, causing special obstacles to implant placement, and provide a diagnostic and treatment process that may be referenced.
View Article and Find Full Text PDFBMC Mol Cell Biol
January 2025
Department of Stomatology, The First Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang, 150001, China.
Background: Inactivation or mutations of FAM20C causes human Raine Syndrome, which manifests as lethal osteosclerosis bone dysplasia or non-lethal hypophosphatemia rickets. However, it is only hypophosphatemia rickets that was reported in the mice with Fam20c deletion or mutations. To further investigate the local and global impacts of Fam20c mutation, we constructed a knock-in allele carrying Fam20c mutation (D446N) found in the non-lethal Raine Syndrome.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!