Frequent DYSF rare variants/mutations in 152 Han Chinese samples with ovarian endometriosis.

PURPOSE: Endometriosis is a common chronic gynecological disease greatly affecting women health. Prior studies have implicated that dysferlin (DYSF) aberration might be involved in the pathogenesis of ovarian endometriosis. In the present study, we explore the potential presence of DYSF mutations in a total of 152 Han Chinese samples with ovarian endometriosis. METHODS: We analyze the potential presence of DYSF mutations by direct DNA sequencing. RESULTS: A total of seven rare variants/mutations in the DYSF gene in 10 out of 152 samples (6.6%) were identified, including 5 rare variants and 2 novel mutations. For the 5 rare variants, p.R334W and p.G941S existed in 2 samples, p.R865W, p.R1173H and p.G1531S existed in single sample, respectively; for the two novel mutations, p.W352* and p.I1642F, they were identified in three patients. These rare variants/mutations were absent or existed at extremely low frequency either in our 1006 local control women without endometriosis, or in the China Metabolic Analytics Project (ChinaMAP) and Genome Aggregation Database (gnomAD) databases. Evolutionary conservation analysis results suggested that all of these rare variants/mutations were evolutionarily conserved among 11 vertebrate species from Human to Fox. Furthermore, in silico analysis results suggested these rare variants/mutations were disease-causing. Nevertheless, we find no significant association between DYSF rare variants/mutations and the clinical features in our patients. To our knowledge, this is the first report revealing frequent DYSF mutations in ovarian endometriosis. CONCLUSION: We identified a high frequency of DYSF rare variants/mutations in ovarian endometriosis for the first time. This study suggests a new correlation between DYSF rare variants/mutations and ovarian endometriosis, implicating DYSF rare variants/mutations might be positively involved in the pathogenesis of ovarian endometriosis.

Novel MYH8 mutations in 152 Han Chinese samples with ovarian endometriosis.

Endometriosis is a common gynecological disease affecting up to 10% of women at reproductive age. Prior combined studies implied that MYH8 mutations might exist in endometriosis. Here, 152 Han Chinese samples with ovarian endometriosis were analyzed for the presence of MYH8 mutations. Two heterozygous missense mutations in the MYH8 gene, c.1441A > C (p.I481L) and c.4057G > A (p.E1353K), were identified in our samples. These mutations were neither found in public databases nor detected in our 485 Han Chinese control women without endometriosis. The p.I481L-mutated sample belonged to 34-year-old, who had slightly elevated serum CA 125 (42.09 U/mL); while the sample with p.E1353K mutation belonged to 25 years old, who had a markedly increased serum CA125 (89.86 U/mL). The evolutionary conservation analysis results suggested that these MYH8 mutations caused highly conserved amino acid substitutions among vertebrate species. Both the mutations were predicted to be 'disease causing' by MutationTaster and SIFT programs. In addition, no association was observed between MYH8 mutations and the available clinical data. In summary, the present study identified two novel potential pathogenic mutations in the MYH8 gene in samples with ovarian endometriosis for the first time, implying that MYH8 mutations might play a positive role in the pathogenesis of endometriosis.

Sclerotherapy in the management of ovarian endometrioma: systematic review and meta-analysis.

OBJECTIVE: To evaluate the efficacy of sclerotherapy for ovarian endometrioma on the risk of recurrence, clinical symptoms, and reproductive function. DESIGN: Systematic review and meta-analysis. SETTING: Not applicable. PATIENT(S): Patients who underwent sclerotherapy of ovarian endometrioma. INTERVENTION(S): An electronic-based search with the use of Pubmed, Embase, Ovid Medline, Google Scholar, Clinicaltrials.gov, and the Cochrane Central Register of Controlled Trials. MAIN OUTCOME MEASURE(S): Recurrence rate, symptoms relief, fertility outcome, and adverse events. RESULT(S): Eighteen studies were included in our review. The overall recurrence rates of endometrioma after sclerotherapy ranged from 0 to 62.5%. The risk of recurrence was significantly higher in women who were treated by means of ethanol washing than by means of ethanol retention. The number of oocytes retrieved was higher after endometrioma sclerotherapy compared with laparoscopic cystectomy, but clinical pregnancy rates were similar. There was no difference in the number of oocytes retrieved and the clinical pregnancy rates between the sclerotherapy-treated group with and the untreated group. CONCLUSION(S): Sclerotherapy for ovarian endometrioma may be considered in symptomatic women who plan to conceive.

Hospitalizations for pelvic inflammatory disease and tuboovarian abscess.

OBJECTIVE: To describe the demographic characteristics of and procedures for patients hospitalized for pelvic inflammatory disease (PID) and tuboovarian abscess in California from 1991 to 2001. METHODS: We used the International Classification of Diseases, 9th Revision, Clinical Modification, diagnostic and procedural codes in the California Patient Discharge Database and census data to calculate hospitalization rates for PID and tuboovarian abscess by age and race/ethnicity. We estimated the proportion of PID and tuboovarian abscess hospitalizations associated with procedures and estimated average length of hospital stay, readmission rates, and mortality. RESULTS: From 1991 to 2001, the California hospitalization rate for PID decreased by 61.5% (from 2.6 to 1.0 per 10,000 women). Tuboovarian abscess hospitalization rates declined by 33.3% during the same time period (from 0.6 to 0.4). Pelvic inflammatory disease hospitalization rates were highest among 20-39 year olds compared with other age categories. Black women aged 20-39 had the highest PID hospitalization rates compared with other racial/ethnic groups. The proportion of hospitalizations associated with hysterectomy was lowest for blacks. CONCLUSION: In California, the hospitalization rate for PID has declined between 1991 and 2001. Black women, 20-39 years of age, had the highest PID hospitalization rates. LEVEL OF EVIDENCE: III.