Medicine
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Paragangliomas (PGLs) are rare neuroendocrine tumors that are strongly influenced by genetics, and succinate dehydrogenase-deficient PGLs appear to constitute one of the most important categories. Interestingly, somatic PGLs only possess genomic alterations involving the SDHB and SDHD subunits, and no SDHA alterations have been described. Here, we are presenting the clinical and genetic analyses of 2 cases with the first somatic SDHA variant identified in PGLs. ⋯ PGLs often lead to considerable diagnostic difficulty due to their multiple anatomical locations and variable symptoms, as presented by our cases. The comprehensive use of images and plasma/urine catecholamine measurement can aid the diagnosis of PGLs. In addition, our findings also demonstrate the usefulness and importance of genetic analysis of SDHA mutations in patients exhibiting SDHB IHC-negative PGL. Additional studies utilizing comprehensive genomic profiling are needed to identify the group of PGLs harboring this SDHA genomic alteration.
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Vitamin D-dependent rickets type I (VDDR-I) is a rare form of rickets, which is an autosomal recessive disease caused by 1α-hydroxylase enzyme deficiency. However, long-term dental management and microscopic morphology of teeth remain largely unclear. ⋯ This case is the first to confirm amelogenesis imperfecta in a patient with VDDR-I that was not prevented by drug intervention. Importantly, it provides evidence that long-term dental intervention in patients with VDDR-I can result in an acceptable oral hygiene status. Therefore, early and long-term dental intervention is necessary in VDDR-I patients.
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Observational Study
Early achievement of ASDAS clinical response is associated with long-term improvements in metrological outcomes in patients with ankylosing spondylitis treated with TNF-α blockers.
The aim of this study was to investigate the relationship between long-term spinal mobility improvements and early disease activity changes or achievement of clinical response criteria in patients with ankylosing spondylitis (AS) treated with tumor necrosis factor (TNF-α) blockers. This retrospective study included 112 patients with AS treated with TNF-α blockers for up to 33 months. The paired t-test was used to compare outcome measures between visits. ⋯ Responders according to Assessment of Spondylo Arthritis international Society 40 at month 3 showed significant 33-month improvements in BASMI10, but not chest expansion, compared to non-responders. The degree of early changes in disease activity outcomes influenced the extent of long-term metrological improvements in AS treated with TNF-α blockers. Additionally, the achievement of ASDAS- major improvement at month 3 predicted significant metrological improvements throughout long-term TNF-α-blocker therapy.
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Radiographic parameters are commonly used to determine the need for surgical supracondylar humeral (SCH) fracture reduction and the postoperative quality of reduction. We studied whether such parameters are correlated with mid-term patient-reported outcome (PRO) scores in pediatric patients. We retrospectively reviewed data from 213 patients (104 girls) treated surgically for Gartland type-II (n = 84) or type-III (n = 129) SCH fractures from 2008-2016. ⋯ There was no association between fractured arm appearance at follow-up and PRO scores. Radiographic parameters that are used to evaluate the need for and quality of pediatric SCH fracture reduction are not significantly associated with mid-term PROMIS and QuickDASH scores. LOE: Prognostic Level III.
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GNE myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase(GNE) gene and is clinically characterized by progressive weakness and atrophy of the lower-limb muscles with quadriceps sparing. Nearly all GNE mutations that have been reported thus far in various ethnic populations around the world have been missense or nonsense mutations. ⋯ We have reported the case of a GNE myopathy patient with compound heterozygous GNE gene mutations. This case expands the genotypic spectrum of GNE myopathy.