Evaluation of PAX1/ST6GALNAC5 methylation as a triage test for cervical intraepithelial neoplasia and cervical cancer.

Aim: To identify DNA methylation markers for triage in a cohort of human papillomavirus-positive (HPV+) women. Methods: The methylation markers were identified and evaluated for the detection of cervical high-grade squamous intraepithelial lesions (HSILs) or cervical cancer (collectively referred to as 'HSIL+') in HPV+ women (n = 692). Results: Combined PAX1/ST6GALNAC5 methylation testing yielded HSIL+ sensitivity of 0.838 and 0.818, with a specificity of 0.827 and 0.810, in the training and test sets, respectively. For cervical cancer, the specificity and sensitivity were 0.969 and 1.000 in the training set and 0.967 and 0.875 in the test set. Moreover, the combined marker methylation test (0.86; 77/90) was more sensitive than the cytology (0.31; 28/90) for HSIL+. Conclusion: The combined PAX1/ST6GALNAC5 marker may have clinical application for detecting HSIL+ in HPV+ women undergoing screening.

Neomodified Koyanagi technique for severe hypospadias with one-stage sealed Y-shaped penis foreskin vascular protection surgery.

Proximal hypospadias defects represent the most challenging aspect of maintaining blood supply to the flap, which eventually leads to a high rate of complications. We modified a sealed Y-shaped penis foreskin vascular protection technique, which can repair the urethra in a single stage. The inner plate of the foreskin was cut along the coronal sulcus, and both sides of the urethral plate were cut as deep as Buck's fascia. The "Y"-shaped foreskin flaps on both sides of the mouth that are continuous with the urethral plate were sutured to form a new urethral skin tube. The urethral skin tube was turned to the ventral side, and the foreskin was reshaped and sutured. A total of 89 children had their urinary catheters removed 4 weeks after the operation. All children were evaluated at least once a year for 3 consecutive years. There were 11 patients with urine leakage that occurred after the operation. These children, diagnosed with urine leakage, underwent successful repair after the leakage occurred. There were no urethral strictures after the operation. The one-time success rate of this operation was 87.6% (78/89), and the incidence of urethral fistula was 12.6% (11/89). The results showed that sealed Y-shaped penis foreskin vascular protection surgery was safer and had a higher operation rate than the traditional hypospadias repair technique. Modifying Koyanagi repair by our improved Koyanagi hypospadias repair is an excellent technique with relatively low complication rates.

[Economic burden of Down syndrome patients and psychological and social discrimination to female caregivers in Changsha, China].

OBJECTIVE: To estimate the social and economic burden of Downs syndrome for patients and their families residing in Changsha, China. METHODS: An 160-item self-administered questionnaire was designed and distributed to the primary caregivers of the patients in March 2020. A total of 81 eligible participants had completed the questionnaire, among which 20 were excluded for incomplete data. A patient perspective was taken to estimate the economic burden of the disease. The social impact of the disease on the patient's family was evaluated through questions adapted from the Stanford Psychological Wellbeing (PWB) Scale. RESULTS: The estimated life-course cost of a Downs syndrome patient in Changsha is 4 985 659 RMB, with the patient and caregiver's loss of income taking the greater proportion. In addition, as the majority of the patients' primary caregivers, female caregivers experienced not only considerable financial hardship caused by the care provision, but also a significant amount of psychological pressure and social discrimination. CONCLUSION: Increased level of social welfare for the patients and social support for their female caregivers are essential for reducing economic burden and improving their quality of life in the area. In addition, prenatal screening and diagnosis for Downs syndrome are important for reducing both the social and economic burden of the disease by preventing its occurrence.

Genetic characteristics of human papillomavirus type 16, 18, 52 and 58 in southern China.

Persistent infections of high-risk human papillomaviruses (HPVs) are the leading cause of cervical cancers. We collected cervical exfoliated cell samples from females in Changsha city, Hunan Province and obtained 338 viral genomes of four major HPV types, including HPV 16 (n = 82), 18 (n = 35), 52 (n = 121) and 58 (n = 100). The lineage/sublineage distribution of the four HPVs confirmed previous epidemiological reports, with the predominant prevailing sublineage as A4 (50%), A1 (37%) and A3 (13%) for HPV16, A1 (83%) for HPV18, B2 (86%) for HPV52 and A1 (65%), A3 (19%) and A2 (12%) for HPV58. We also identified two potentially novel HPV18 sublineages, i.e. A6 and A7. Virus mutation analysis further revealed the presence of HPV16 and HPV58 sublineages associated with potentially high oncogenicity. These findings expanded our knowledge of the HPV genetic diversity in China, providing valuable evidence to facilitate HPV DNA screening, vaccine effectiveness evaluation and control strategy development.