Assessment of 5-Aminolaevulinic Acid Photodynamic Therapy (ALA-PDT) in Chinese patients with actinic keratosis: Correlation of dermoscopic features with histopathology.

OBJECTIVES: The study examines the changes in dermoscopic features of actinic keratosis (AK) after photodynamic therapy, and delineates the association between AK dermoscopic and histopathological findings. METHODS: A total of 21 patients (23 lesions) with pathologically confirmed actinic keratosis who received 5-aminolaevulinic acid (ALA) photodynamic therapy (ALA-PDT) were enrolled. The numbers of PDT treatments were: 1, n = 1; 2, n = 2; 3, n = 10; 4, n = 6; 5, n = 2; 6, n = 2). The dermoscopic features before and after the PDT were compared. RESULTS: There were statistically significant decreases in the positive rates of dermoscopic features including scales (P < 0.001), follicular plugs with whitish halo (P = 0.013), and red pseudonetwork (P = 0.022) among patients treated with ALA-PDT. Dermoscopic feature was significantly associated with pathological grade (P < 0.001). Histopathological hyperkeratosis was significantly associated with dermoscopic red pseudonetwork (P = 0.034) and wavy vessel (P = 0.005). Parakeratosis was associated with wavy vessels (P = 0.001). For vascular hyperplasia in dermal papillae, the significant correlates included scales (P = 0.011), follicular plugs with whitish halo (P = 0.011), red pseudonetwork (P < 0.001); coiled vessels (P = 0.003) and rosette sign (P = 0.004). Wavy vessels was the only feature correlating keratosis pilaris (P = 0.003). CONCLUSIONS: The findings of the present study support dermoscopy as having potential to be useful for diagnosing and monitoring of actinic keratosis.

Reproducibility analysis on shear wave elastography (SWE)-based quantitative assessment for skin elasticity.

Shear Wave Elastography (SWE) is an objective and non-invasive method widely used to quantify the tissue solidity. However, there are concerns about the accuracy of the skin SWE results due to the low signal-to-noise ratio (SNR) caused by subcutaneous fat, muscle and bone. This article analyzed the reproducibility of the result for skin SWE and therefore evaluated the availability of SME for skin elasticity involved diseases. Thirty volunteers (mean age: 37 ±â€Š12 years) were selected. SWE were taken on the skin of abdomen and the middle tibia in order to assess the impact of fat, muscle and bone on SWE results. Skin in the area of anterior and lateral tibia marked with seven parallel lines, and each line indicated an identical thickness of the subcutaneous fat from 1-7 mm. Intra-class correlation coefficients (ICC) were used to evaluate the intra-observer and inter-observer reproducibility. The solidity of abdominal skin showed soft and small individual differences (12.4 ±â€Š2.7 kPa), whereas high shear moduli (25-48 kPa) were observed in the skin above tibia and tibialis anterior muscle. When the subcutaneous fat was thicker than 3 mm (≥3), we obtained excellent intra-observer reproducibility (ICC range 0.78-0.98) and inter-observer reproducibility (ICC range 0.75-0.98). The thickness of subcutaneous fat could affect the reproducibility of skin SWE. The further study on skin SWE standardization should be taken.

Noninvasive prenatal testing for autosomal recessive conditions by maternal plasma sequencing in a case of congenital deafness.

PURPOSE: The goals of our study were to develop a noninvasive prenatal test for autosomal recessive monogenic conditions and to prove its overall feasibility and potential for clinical integration. METHODS: We recruited a pregnant woman and her spouse, who had a proband child suffering from congenital deafness, and obtained the target-region sequencing data from a semicustom array that used genomic and maternal plasma DNA from three generations of this family. A haplotype-assisted strategy was developed to detect whether the fetus inherited the pathogenic mutations in the causative gene, GJB2. The parental haplotype was constructed using a trio strategy through two different processes, namely, the grandparent-assisted haplotype phasing process and the proband-assisted haplotype phasing process. The fetal haplotype was deduced afterward based on both the maternal plasma sequencing data and the parental haplotype. RESULTS: The accuracy levels of paternal and maternal haplotypes obtained by grandparent-assisted haplotype phasing were 99.01 and 97.36%, respectively, and the proband-assisted haplotype phasing process yielded slightly lower accuracies of 98.73 and 96.79%, respectively. Fetal inheritance of the pathogenic gene was deduced correctly in both processes. CONCLUSION: Our study indicates that the strategy of haplotype-based noninvasive prenatal testing for monogenic conditions has potential applications in clinical practice.

Assessment of association between variants and haplotypes of the IGF2 gene in beef cattle.

Insulin-like growth factor 2 (IGF2) is a fetal growth and differentiation factor that plays an important role in muscle growth and in myoblast proliferation and differentiation. The aim of this study was to examine the association of the IGF2 polymorphism with growth traits in beef cattle breed. Four single nucleotide polymorphisms (SNPs: 1-4) were identified in the bovine IGF2 by sequencing pooled DNA samples (Pool-Seq) and forced polymerase chain reaction-restriction fragment length polymorphism (Forced PCR-RFLP) methods. The result of haplotype analysis of four SNPs showed that eight haplotypes and eighteen combined genotypes were revealed, and the linkage disequilibrium and evolutionary relationship were assessed in 1522 individuals representing four purebred cattle breeds from China. The statistical analyses indicated that the 4 SNPs and 18 combined genotypes or haplotypes are associated with the body weight at 18 and 24 months in Jiaxian cattle population (P<0.05 or P<0.01). Our results provide evidence that polymorphisms in the IGF2 gene are associated with growth traits, and may be used for marker-assisted selection in beef cattle breeding program.

Rapid detection of aneuploidies on a benchtop sequencing platform.

OBJECTIVE: To report a novel method of rapidly detecting fetal aneuploidies for spontaneous abortion using ultra-low whole genome sequencing data on a benchtop sequencing platform. METHOD: Fetal chorionic villus samples were collected from 40 cases of spontaneous abortion with 22 different types of aneuploidy. Genomic DNA of each sample was extracted and sequenced on Illumina MiSeq platform. Unique reads of different read lengths were generated and analyzed using a z-score test. RESULTS: The entire test was finished in 48 hours. An average of 102 k unique reads was obtained for each sample, and all 40 different aneuploidy samples were correctly identified with a z-score of ≥3 or ≤ -3. No false positives or false negatives were observed. Further analysis demonstrated that read length and sequencing type (Paired-end or Single-end) significantly affects the efficiency of sex chromosomal aneuploidy detection. Paired-end 50 bp reads displayed the highest mapping rate and is recommended for future large-scale clinical settings. CONCLUSION: Ultra-low whole genome sequencing can rapidly detect aneuploidy of chromosomes in spontaneous abortion samples in less than 48 hours and therefore can serve as an alternative option to current aneuploidy detection methods for aborted tissues.