Vascular-type Ehlers-Danlos syndrome (vEDS) is an autosomaldominant inherited disorder with a frequency of 1/50,000-1/200,000. 1 vEDS is caused by a deficit in collagen III that results from heterogeneous mutations in the α1 collagen III gene (COL3A1).Typical vEDS characteristics include translucent skin, easy bruising, and fragile connective tissues affecting hollow organ walls, including those of the uterus, intestines, and arteries. The increased risk of arterial rupture may cause life-threatening complications, even in younger patients. 2,3 Unfortunately, the detailed pathogenesis underlying the COL3A1 mutation causing vEDS has not been elucidated.
Based on the electron microscopy (EM) findings of Smith et al., 4COL3A1 mutation causes collagen fiber size anomalies and endoplasmic reticulum (ER) stress response 5 in patients with vEDS. We have also observed skin samples using EM to elucidate vEDS pathology.During this process, we discovered that collagen fiber size anomalies are similar to those of vEDS infant samples, even though those infants did not have vEDS. Thus, this novel discovery can contribute to this research for elucidating vEDS. In this article, we compare
Summary
Background
The gold standard for diagnosis of cutaneous sporotrichosis involves the isolation of the fungus, Sporothrix, by a culture test. Generally, the sampling for the culture test is performed at the same time as skin biopsy under local anaesthesia. However, the culture test may occasionally return a false negative result.
Objective
The aim of our study was to investigate the diagnostic value of a molecular method for diagnosing cutaneous sporotrichosis from formalin‐fixed and paraffin‐embedded (FFPE) tissues.
Methods
Over a 30‐year period, we collected 52 cases of cutaneous sporotrichosis from biopsied specimens that had been positively diagnosed by a culture test. A nested PCR specific for Sporothrix detection was applied using FFPE tissue as template. The results were compared with control samples from 79 patients diagnosed with other cutaneous diseases according to histopathological, clinical findings and a cutler test.
Results
Of the 52 patients who were tested positive on the culture test, all cutaneous diseases were detected by PCR. Of the 59 patients in the control group, 58 tested negative by PCR. Under our conditions, the calculated sensitivity of this method was 100%, the specificity was 98.7% and the kappa coefficient was 0.984 (95% CI: 0.953‐1.000).
Conclusions
The specific PCR assay used appears to be a useful tool for the prompt and accurate diagnosis of sporotrichosis. Using this method, it would be possible to diagnose cutaneous sporotrichosis for patients who were suspected of cutaneous sporotrichosis but tested negative on culturing, and for pathologically suspected cutaneous sporotrichosis patients for whom the culture test was not undertaken.
in vitro enhanced eTG activity in a dose-dependent manner, while removal of potassium iodide resulted in depletion of eTG activity. 9 This mechanism is thought to be due to the fact that the high concentration of potassium iodide changes the steric structure of the active site of eTG.Herein, we report a case of DH triggered due to iodine contrast media. Although iodine contrast media often causes cutaneous adverse reactions, 10 DH also needs to be considered when skin lesions appear after using iodine contrast media.
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