Quantitative assessment of treatment efficacy in keloids using high-frequency ultrasound and shear wave elastography: a preliminary study.

The purpose of this study was to investigate the performance of high-frequency ultrasound (HFUS) and shear wave elastography (SWE) in the quantitative evaluation of therapeutic responses of keloids. 43 patients with 76 keloids were recruited into this study. In keloids and symmetrical sites, the skin thickness was measured using HFUS and skin stiffness expressed as elastic moduli (Young's modulus and shear wave velocity) was measured using SWE. The coefficient of variation values were calculated by using difference values of skin elastic moduli and skin thickness. A significant increase of both skin stiffness and thickness appeared in pre-treated keloids compared with post-treated keloids (P < 0.001) and normal controls (P < 0.001), respectively. Stiffness in post-treated keloids and normal skins was significantly different (P < 0.001), while the difference in thickness measurements showed no significance (P = 0.56, >0.05). The coefficient of variation of Young's modulus was the highest when compared between (i) pre-treated keloids and theirs site-matched areas; (ii) pre-treated and post-treated keloids. SWE, which showed greater ability in determining the extent of keloids recovery, may provide an ideal tool to assess the stiffness of keloids and theirs therapeutic response.

[Quantitative Assessment of Skin Thickness using High Frequency Ultrasound in Systemic Sclerosis].

OBJECTIVE: To investigate the performance of high frequency ultrasound in the assessment of skin thickness in patients with systemic sclerosis (SSc). METHODS: The study included 82 SSc (SSc group) and 67 healthy volunteers (control group) from 2014 to 2016. The skin thickness at bilateral middle fingers and forearms,anterior chest and abdominal wall was measured using high frequency ultrasound. All the patients with SSc underwent the modified rodnan skin score (mRSS) over 17 anatomical sites by an experienced dermatologist. The differences in age,sex,height,body mass,body mass index (BMI) and skin thickness between SSc patients and healthy controls were compared. Receiver operating characteristic (ROC) curve analysis was performed to determine the performance of high frequency ultrasound in the differentiation of SSc from healthy skin,and the correlation of mRSS with skin thickness were analyzed. RESULTS: SSc patients and healthy controls shared similar demographic features (age,sex ratio,height,body mass,BMI) (P>0.05). Skin thickness values in SSc patients were increased significantly at fingers and forearms compared with healthy controls (P<0.05). The area under the curve (AUC) was 0.938, 0.905, 0.608, 0.586, 0.398, 0.321 at right and left finger,right and left forearm,chest and abdominal wall. Among them,AUC>0.9 of right and left fingers can be used for diagnosis,The skin thickness cut-off value for determining the diagnosis of SSc were as follows: 1.35 mm at the right finger with 84.1% sensitivity and 95.5% specificity,1.26 mm at the right forearm with 86.6% sensitivity and 89.6% specificity,respectively. Skin thickness increased significantly with mRSS. The correlation of total mRSS scores with total skin thickness was 0.599 (P<0.001),and the correlation of local mRSS score with local skin thickness were 0.400-0.623 (P<0.001),with the highest correlation coefficient at right finger and the lowest at abdomen. CONCLUSION: High frequency ultrasound may reflect extent of skin involvement of SSc,and skin thickness assessed with high frequency ultrasound appeared to be highly specific and sensitive at fingers.

Improvement in the sensitivity of newborn screening for Fabry disease among females through the use of a high-throughput and cost-effective method, DNA mass spectrometry.

Many female carriers of Fabry disease are likely to develop severe morbidity and mortality. However, by our own estimation, around 80% of female newborns are missed by our current enzyme-based screening approach. Our team's aim was to develop an improved cost-effective screening method that is able to detect Fabry disease among female newborns. In Taiwan, based on a database of 916,000 newborns, ~98% of Fabry patients carry mutations out of a pool of only 21 pathogenic mutations. An Agena iPLEX platform was designed to detect these 21 pathogenic mutations using only a single-assay panel. A total of 54,791 female infants were screened and 136 female newborns with the IVS4 + 919G > A mutation and one female newborn with the c.656T > C mutation were identified. Using the current enzyme-based newborn screening approach as baseline, around 83% of female newborns are being missed. Through a family study of the IVS4 female newborns, 30 IVS4 adult family members were found to have left ventricular hypertrophy. Ten patients received endomyocardial biopsy and all were found to have significant globotriaosylceramide (Gb3) accumulation in their cardiomyocytes. All of these individuals now receive enzyme replacement therapy. We have demonstrated that the Agena iPLEX assay is a powerful tool for detecting females with Fabry disease. Furthermore, through this screening, we also have been able to identify many disease-onset adult family members who were originally undiagnosed for Fabry disease. This screening helps them to receive treatment in time before severe and irreversible cardiac damage has occurred.