Prenatal Diagnosis and Molecular Cytogenetic Characterization of Xp22.32p22.31 microduplication in a Chinese family.

OBJECTIVES: To explore the relationship between Xp22.32p22.31 microduplication and mental retardation identifiable by chromosomal G-banding and chromosomal microarray analysis (CMA). MATERIAL AND METHODS: Chromosomal G-banding, CMA, and physical and mental examinations were performed on four members of a Chinese family. RESULTS: The mother and one baby had the same microduplication (arr[GRCh37] Xp22.32p22.31(5970505-6075215)x2), and the baby had mental retardation. CONCLUSIONS: Xp22.32p22.31 microduplication in males could cause mental retardation. Combination of NIPT, prenatal ultrasound, chromosomal G-banding and CMA has high accuracy in risk assessment for prenatal diagnosis.

Clinicopathological parameters associated with histological background and recurrence after surgical intervention of vocal cord leukoplakia.

Histological examination of biopsy shows usefulness in the diagnosis of vocal cord leukoplakia; however, in considerable amount of cases, the examination cannot provide definitive diagnosis of malignancy from benign conditions such as hyperplasia and dysplasia. The present work therefore was aimed to identify clinicopathological factors and molecular markers predictive of recurrence and malignant transformation of vocal cord leukoplakia.Clinical data of 555 cases of vocal cord leukoplakia enrolled from July 1999 to June 2014 were analyzed. The cohort consisted of keratosis (n = 137), hyperplasia (n = 139), dysplasia (n = 177), and primary (n = 10) and invasive (n = 46) carcinoma. Correlations between patients' backgrounds, clinicopathological factors, molecular markers (p53, p16, Ki67, cytokeratin, and proliferating cell nuclear antigen), and histology backgrounds were examined using by Pearson Chi-squared or Fisher exact test. Reflux symptom index (RSI) and reflux finding score (RFS) before and after treatment were compared using Wilcoxon signed-rank test. Risk factors for disease recurrence were identified using Cox proportional hazards models of multivariate analysis. Time to recurrence was analyzed using log-rank test of Kaplan-Meier method.In the present cohort, alcohol drinking was found associated with GRBAS grade (P = .0258) and the site (P = .0298) of leukoplakia. For the different disease types, chief complaint (P = .0179), GRBAS grade (P = .0101), mucosal wave (P < .0001), and molecular markers p53 (P < .0001) and Ki67 (P < .0001) were identified as correlates. RSI and RFS were significantly lowered by surgical intervention. A single side of leukoplakia was predictive of a lower risk of recurrence (odds ratio, 0.378; 95% confidence interval, 0.197-0.723; P = .0033). Absence of mucosal wave was associated with a shorter time-to-recurrence (P = .0357).The present work identified clinicopathological factors and molecular markers associated with the different histology of vocal cord leukoplakia, and also the prognostic factor for the low risk of recurrence after surgery.

Clinical features and surgical treatment for Chinese juvenile onset current respiratory papillomatosis (JORRP).

Juvenile onset current respiratory papillomatosis (JORRP), which is the commonest benign laryngeal disease in children, has not been well investigated. This study aimed at further evaluating the clinical features and surgery for such children with JORRP. Patients diagnosed as JORRP in our department from January 2011 to June 2014 were enrolled, and the demographic and clinical data were collected. All the patients were followed up after surgery, and the recurrences were recorded. A total of 124 patients were included and categorized into low recurrence (<4/year, n = 97) and high recurrence (≥4/year, n = 27) groups based on the recurrence at diagnosis, respectively. The demographic characteristics were comparable in two groups. There were more patients in high recurrence group who had dyspnea II-III, abnormal chest X-ray findings and severe illness, and needed electrocardiscope monitoring (P < 0.05). Patients who had dyspnea II (P = 0.008) and severe illness (P = 0.002) needed electrocardiscope monitoring (P = 0.014) in high recurrence group were more prone to have recurrence after surgery. Multivariate logistic regression analysis proved that high recurrence at diagnosis was an independent risk factor for recurrence after surgery in JORRP [95 %CI OR 17.342 (1.266, 237.608), P = 0.033]. The recurrence at diagnosis could be used as a prognostic factor for JORRP after surgery, which could help to improve the therapeutic efficacy in such children.