Dystrophic epidermolysis bullosa pruriginosa (DEB-Pr) is a rare variant of dystrophic epidermolysis bullosa (DEB) due to dominant or recessive mutations in the COL7A1 gene. More than 40 mutations in COL7A1 have been described in DEB-Pr. The aim of this study was to understand the genotype-phenotype correlation in Chinese patients with DEB-Pr. Three Chinese families with typical clinical features of DEB-Pr were studied. The results were analysed in association with the eight Chinese DEB-Pr patients reported in the literature. In the three Chinese families with DEB-Pr, we found two dominant cases with G1773R and c.6900+1G>C mutations, and one case with heterozygous G2701W mutation of uncertain inheritance mode. In the 10 Chinese patients with dominant type of DEB-Pr, 7 glycine substitutions and three splicing site mutations of exon 87 skipping were identified. Glycine substitution mutations in the triple helix region and exon 87 skipping, leading to the in-frame deletion of 23 amino acid residues in the triple-helix, are often seen in Chinese patients with dominant DEB-Pr, although the glycine substitutions are also frequently present in dominant DEB.

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Anaplastic carcinoma in an ovarian tumor (ACOT) is rare. There have been a few controversial cases illustrating the clinical characteristics and prognostic factors of ACOT, which are not well known. A 60-year-old Chinese woman presented with a large pelvic tumor. A transvaginal ultrasound examination showed a large single ovarian cystic tumor with mural nodules and ascites. A gross ovarian mass with a size of approximately 20 × 10×15 cm3 was found. The content of the ovarian cyst was light yellow and chocolate-like, and a large grayish mural nodule of approximately 10 cm was found on the cyst wall. Histological diagnosis of ovarian mucinous borderline cystadenoma with a mural nodule of anaplastic carcinoma showing rhabdoid features and International Federation of Gynecology and Obstetrics (FIGO) stage IIIa was made. Fifteen months after surgery, the patient had received six courses of paclitaxel and carboplatin. She is still alive without any recurrence of the tumor. Findings from the present case suggest that patients with ACOT and FIGO stage IIIa would benefit from surgery and chemotherapy of paclitaxel and carboplatin. We also review the clinical features and survival rate of patients with ACOT using the Surveillance, Epidemiology, and End Result database, and summarize previously reported treatments.

The suppressive activity of serum from pregnant women on NK cell suppression activity was useful in predicting the establishment of a successful pregnancy.

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This study aimed to evaluate the clinical characteristics, pregnancy outcomes and prognostic factors for pregnancy of female with chromosomal abnormalities (CAs) after artificial insemination with donor's sperm (AID) treatment. A retrospective case–control study was analyzed by using the data of 29 female patients with CA and 116 controlled patients with normal karyotype (1:4 ratio) who underwent AID cycles at Guangdong Family Planning Special Hospital from January 2011 to December 2017. In all cases, reproductive histories were collected, and the cytogenetic analysis was performed by Trypsin-Giemsa banding and karyotyping. The embryos were fertilized via intracervical or intrauterine insemination. Clinical characteristic variables were compared. The prevalence of CA was found to be 0.29% in the whole AID population. The live birth rates of CA group and controlled group were 41.4% and 31.0% ( P = .29) respectively. Compared to normal karyotype group, patients with CA showed higher rate of primary infertility (93.1% vs 75.9%, P = .049); Multivariate analysis demonstrated that ovarian stimulation (odds ratio, 3.055; 95% confidence interval, 1.421–6.568; P = .004) was associated with adverse pregnancy outcomes in female patients with AID treatment. For the infertility CA patients who were phenotypically normal, AID was a suitable choice, whereas ovarian stimulation results in an improvement in the pregnancy rate.