- Long-term remarkable remission of SAPHO syndrome in response to short-term systemic corticosteroids treatment in an immunoglobulin E elevated patient: A case report. [Journal Article]
- MMedicine (Baltimore) 2019; 98(27):e16045
- CONCLUSIONS: Identification of specific subtype of SAPHO patient according to skin and nail manifestations as well as immunoglobulin E level may guide the selection of short-term systemic corticosteroids strategy, leading to remarkable long-term remission. Besides, the lesions on bone scintigraphy can hardly disappear in SAPHO patients, and instead, the quantitative analysis of bone scintigraphy and MRI performances may better reflect the change of disease condition and serve as indicator for treatment efficiency.
- [A case report of hereditary multiple exostosis with cervical spinal cord compression]. [Case Reports]
- ZGZhongguo Gu Shang 2019 May 25; 32(5):459-461
- National Survey of Prevalence and Prognosis of Thanatophoric Dysplasia in Japan. [Journal Article]
- PIPediatr Int 2019 Jun 27
- CONCLUSIONS: The prevalence of TD in Japan is estimated to be at 1.1 (95% confidence interval, 0.84-1.37) per 100,000 births; however, the actual incidence is expected to be higher. To our knowledge, we confirmed for the first time that newborns with TD may not always die during the early neonatal period but can survive the early neonatal period with appropriate respiratory management. Therefore, the term "thanatophoric dysplasia" does not accurately reflect the nature of the disease. This article is protected by copyright. All rights reserved.
- Multiple cartilaginous exostoses in a Swiss Mountain dog causing thoracolumbar compressive myelopathy. [Case Reports]
- AVActa Vet Scand 2019 Jun 25; 61(1):32
- CONCLUSIONS: This is the first case report of multiple cartilaginous exostoses with a complete pre- and postoperative evaluation and a 15 month follow-up.
- Rmrp mutation disrupts chondrogenesis and bone ossification in zebrafish model of cartilage-hair hypoplasia via enhanced Wnt/β-catenin signaling. [Journal Article]
- JBJ Bone Miner Res 2019 Jun 25
- Cartilage-hair hypoplasia (CHH) is an autosomal recessive metaphyseal chondrodysplasia characterized by bone dysplasia and many other highly variable features. The responsible gene for CHH has been i…
Cartilage-hair hypoplasia (CHH) is an autosomal recessive metaphyseal chondrodysplasia characterized by bone dysplasia and many other highly variable features. The responsible gene for CHH has been identified to be the RNA component of the mitochondrial RNA processing endoribonuclease (RMRP) gene. Currently, the pathogenesis of osteochondrodysplasia and extraskeletal manifestations in CHH patients remains incompletely understood, furthermore, there are no viable animal models for CHH. We generated a rmrp knockout zebrafish model to study the developmental mechanisms of CHH. We found that rmrp is required for the patterning and shaping of pharyngeal arches. Rmrp mutation inhibits the intramembranous ossification of skull bones and promotes vertebrae ossification. The abnormalities of endochondral bone ossification are variable depending on the degree of dysregulated chondrogenesis. Moreover, rmrp mutation inhibits cell proliferation and promotes apoptosis through dysregulating the expressions of cell cycle and apoptosis related genes. Furthermore, we demonstrate that rmrp mutation up-regulates canonical Wnt/β-catenin signaling and pharmacological inhibition of Wnt/β-catenin could partially alleviate the chondrodysplasia and increased vertebrae mineralization in rmrp mutants. Our study, by establishing a novel zebrafish model for CHH, partially reveals the underlying mechanism of CHH, which also deepen our understanding of the role of rmrp in skeleton development. This article is protected by copyright. All rights reserved.
- [Unexpected discovery of isolated osteochondroma in the pubic symphysis]. [Case Reports]
- PAPan Afr Med J 2019; 32:74
- Osteochondroma is the most common benign bone tumor. It usually affects the metaphyses of the long bones, in particular around the knee and the proximal humerus. It very rarely affects the pubic symp…
Osteochondroma is the most common benign bone tumor. It usually affects the metaphyses of the long bones, in particular around the knee and the proximal humerus. It very rarely affects the pubic symphysis, usually with an atypical symptomatology. We here report the case of a 35-year old man in whom osteochondroma in the pubic symphysis encroaching on the iliopubic branch was fortuitously discovered. Radiological examinations as well as macroscopic and histological examination confirmed the diagnosis and the absence of signs of malignancy.
- Five-year follow-up outcomes of comprehensive rehabilitation in Korean siblings with cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome: A case report. [Case Reports]
- MMedicine (Baltimore) 2019; 98(23):e15908
- CONCLUSIONS: The therapy of genetic disorders is challenging for pediatric neurologists and pediatric physiatrists. We suggest that rehabilitation is the best treatment currently available for this genetic disease that yields satisfactory therapeutic effect.
- Structural basis for human sterol isomerase in cholesterol biosynthesis and multidrug recognition. [Journal Article]
- NCNat Commun 2019 06 05; 10(1):2452
- 3-β-hydroxysteroid-Δ8, Δ7-isomerase, known as Emopamil-Binding Protein (EBP), is an endoplasmic reticulum membrane protein involved in cholesterol biosynthesis, autophagy, oligodendrocyte formation. …
3-β-hydroxysteroid-Δ8, Δ7-isomerase, known as Emopamil-Binding Protein (EBP), is an endoplasmic reticulum membrane protein involved in cholesterol biosynthesis, autophagy, oligodendrocyte formation. The mutation on EBP can cause Conradi-Hunermann syndrome, an inborn error. Interestingly, EBP binds an abundance of structurally diverse pharmacologically active compounds, causing drug resistance. Here, we report two crystal structures of human EBP, one in complex with the anti-breast cancer drug tamoxifen and the other in complex with the cholesterol biosynthesis inhibitor U18666A. EBP adopts an unreported fold involving five transmembrane-helices (TMs) that creates a membrane cavity presenting a pharmacological binding site that accommodates multiple different ligands. The compounds exploit their positively-charged amine group to mimic the carbocationic sterol intermediate. Mutagenesis studies on specific residues abolish the isomerase activity and decrease the multidrug binding capacity. This work reveals the catalytic mechanism of EBP-mediated isomerization in cholesterol biosynthesis and how this protein may act as a multi-drug binder.
- Translation and cross-cultural validation of the French version of the Sleep-Related Breathing Disorder scale of the Pediatric Sleep Questionnaire. [Journal Article]
- SMSleep Med 2019; 58:123-129
- CONCLUSIONS: The French version of the PSQ has been successfully cross-culturally adapted and showed good psychometric properties, suggesting that it is useful as a tool to screen sleep-disordered breathing in French-speaking children.
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- Identification of pathogenic mutations in 6 Chinese families with multiple exostoses by whole-exome sequencing and multiplex ligation-dependent probe amplification: Case series. [Case Reports]
- MMedicine (Baltimore) 2019; 98(20):e15692
- CONCLUSIONS: Overall, we identified 5 novel mutations and 1 recurrent mutation in the EXT1 and EXT2 genes in 6 Chinese families with HME. Our findings expand the mutational spectrum of the EXT1 and EXT2 genes and are useful for genetic counseling and prenatal diagnosis.