90 research outputs found
The dynamics of dissolved organic carbon concentration at the mountainous river in Japan
No full textMechanism of fluctuation in shear force applied to buttocks during reclining of back support on wheelchair.
No full textP(論文)journal articl
Mechanism of fluctuation in shear force applied to buttocks during reclining of back support on wheelchair.
No full textValidation of high-resolution aerosol optical thickness simulated by a global non-hydrostatic model against remote sensing measurements
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A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature
No full textAbstract Background Stickler syndrome is a group of collagenopathies characterized by ophthalmic, skeletal, and orofacial abnormalities, with the degree of symptoms varying among patients. Mutations in the COL2A1, COL11A1, and COL11A2 procollagen genes cause Stickler syndrome. Marshall syndrome, caused by a COL11A1 mutation, has clinical overlap with Stickler syndrome. Case presentation A 2-year-old Japanese boy was presented to our hospital with short stature (79.1 cm, −2.52 standard deviation). His past medical history was significant for soft cleft palate and bilateral cataracts. He had a flat midface, micrognathia, and limitations in bilateral elbow flexion. Radiographs showed mild spondyloepiphyseal dysplasia. Initially, we suspected Marshall syndrome, but no mutation was identified in COL11A1. At 8 years old, his height was 116.2 cm (−1.89 standard deviation), and his orofacial characteristics appeared unremarkable. We analyzed the COL2A1 gene and found a novel heterozygous mutation (c.1142 G > A, p.Gly381Asp). Conclusions In this case report, we identify a novel missense mutation in the COL2A1 gene in a patient with Stickler syndrome type 1, and we describe age-related changes in the clinical phenotype with regard to orofacial characteristics and height. Genetic analysis is helpful for the diagnosis of this clinically variable and genetically heterogeneous disorder
A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature
No full textElectrochemical Hydrogenation Reaction of Toluene with PtxRu Alloy Catalyst-Loaded Gas Diffusion Electrodes
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Cheilitis Granulomatosa in Childhood: Unveiling an Uncommon Cause of Lip Enlargement
No full textABSTRACT Cheilitis granulomatosa, a rare condition in children, is marked by painless, sudden lip swelling, which can last for an extended period. Since cheilitis granulomatosa can precede gastrointestinal symptoms in some cases of Crohn's disease, a comprehensive evaluation before administering systemic inflammatory modulatory treatments and long‐term follow‐up is necessary
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