Single-nucleotide polymorphisms (SNPs) is associated with efficacy of specific drugs. Although there are several methods for SNP genotyping in clinical settings, alternative methods with lower cost, higher throughout and less complexity are still needed. In this study, we modified Kompetitive Allele Specific PCR to enable multiplex SNP genotyping by introducing additional fluorescent cassettes that specifically help to differentiate more amplification signals in a single reaction. This new format of assay achieved a limit of detection down to 310 copies/ reactions for simultaneous detection of 2 SNPs with only standard endpoint PCR workflow for synthetic controls, and genotyped 117 clinical samples with results that were in 100% agreement with hospital reports. This study presented a simplified, costeffective high-throughput SNP genotyping alternative for pharmacogenetic variants, and enabled easier access to pharmaceutical guidance when needed.
Background Diffuse myocardial interstitial fibrosis (DMIF) is a key factor for heart failure (HF) in diabetic cardiomyopathy. MRI T1‐mapping technique can quantitatively evaluate DMIF. Purpose To evaluate of early DMIF in a type 1 diabetes mellitus (T1DM) mouse model through 7.0 T MRI T1 mapping. Study Type Prospective. Animal Model A total of 50 8‐week‐old C57Bl/6J male mice were divided into control (n = 20) and T1DM (n = 30) groups. Field Strength/Sequence A 7.0 T small animal MRI; gradient echo Look–Locker inversion recovery T1‐mapping sequence; cine MRI. Scans were acquired in control and T1DM mice every 4 weeks until 24 weeks. Assessment End‐diastolic volume (EDV), end‐systolic volume (ESV), ejection fraction (EF), left ventricle (LV) mass, fractional shortening (FS), and E/A ratio. They were evaluated through echocardiography and cine MRI. The extracellular volume fraction (ECV) was calculated. Sirius Red staining was performed and calculated collagen volume fraction (CVF). Statistical Tests Differences in ECV and CVF between two groups were analyzed using one‐way analysis of variance. The correlation between ECV and CVF was assessed using Pearson's correlations. Results Compared with the control group, a progressive decrease in FS, EF, and E/A ratio was observed in the T1DM group. Both ECV and CVF values gradually increased during diabetes progression. A significant increase in ECV and CVF values was observed at 12 weeks (ECV: 32.5% ± 1.6% vs. 28.1% ± 1.8%; CVF: 6.9% ± 1.8% vs. 3.3% ± 1.1%). ECV showed a strong correlation with CVF (r = 0.856). Data Conclusion ECV is an accurate and feasible imaging marker that can be used to quantitatively assess DMIF changes over time in T1DM mice. ECV has potential to accurately detect DMIF in the early stage and may be a useful imaging tool to assess the need for early intervention in T1DM mice. Evidence Level 1 Technical Efficacy Stage 3.
Background: Ear molding is a noninvasive treatment that shows promising results for neonatal ear deformations. Little research has been reported evaluating 1-year outcomes or relapse after ear molding for ear malformations. Methods: One-year molding efficacy for constricted ear, a common malformation that affects the aesthetic appearance of the auricle, was assessed during a single-center, prospective study conducted over a 3-year period (from May of 2017 to April of 2020). Infants with constricted ears were recruited and treated with the EarWell Infant Ear Correction System. Constricted ear classification, age at treatment application, duration of treatment, complications, and parental satisfaction were analyzed. Photographic documentation of the ears was performed before treatment, at treatment termination, and 12 months after treatment to evaluate treatment efficacy and relapse. Results: Sixty patients with 91 constricted ears were recruited. The EarWell Infant Ear Correction System was initiated before 2 weeks of age for 75.0% of these patients. Successful correction was achieved in 85.8% of patients. Early molding initiation (before 14 days of age) resulted in a significantly higher success rate (P = 0.017). Class 1 and class 2 deformities achieved better outcomes than class 3 deformities (P = 0.001). Among the 91 auricles, 37 ears (40.7%) relapsed: 36.3% had mild relapse, 4.4% had moderate relapse, and 0% had severe relapse. The treatment duration for patients with relapse was shorter than for patients without relapse (P = 0.035). Conclusion: Early ear molding is an effective treatment for constricted ear. Sufficient molding duration and consolidation periods are crucial in maintaining treatment effects. Clinical question/level of evidence: Therapeutic, III.
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