Association of estrogen receptor ß polymorphisms with posterior tibial tendon dysfunction.

Posterior tibial tendon (PTT) dysfunction is three times more common in females, and some patients may have a predisposition without a clinically evident cause, suggesting that individual characteristics play an important role in tendinopathy. The present study investigated the association of rs4986938 (+ 1730G > A; AluI RFLP) and rs1256049 (- 1082G > A; RsaI RFLP) single nucleotide polymorphisms (SNPs) of estrogen receptor-beta (ER-ß) gene with PTT dysfunction. A total of 400 participants were recruited. The PTT dysfunction group: these patients underwent surgery, with PTT tendinopathy confirmed by histopathology and magnetic resonance image (MRI). The control group was composed of participants with no clinical or MRI evidence of PTT dysfunction. Each group was composed of 100 postmenopausal women, 50 premenopausal women, and 50 men. Genomic DNA was extracted from saliva samples, and genotypes were obtained by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP). Concerning the ER-ß SNP rs4986938, there were significant differences in the frequencies of alleles between test and control groups of all the cases, only postmenopausal women and only men (p < 0.0001, p = 0.0016 and p = 0.0001). Considering the PTT dysfunction group and comparing postmenopausal women versus premenopausal women adding men, the analysis showed significant differences in the allelic distribution (p = 0.0450): the allele A in postmenopausal women is a risk factor. The ER-ß SNP rs1256049 did not show differences in the frequencies of alleles and genotypes between groups. The ER-ß SNP rs4986938, but not ER -ß SNPs rs1256049, may contribute to PTT insufficiency in the Brazilian population, with additional risk in postmenopausal women. Addition, in men the genetic factor could be more determinant.

ERα PvuII and XbaI polymorphisms in postmenopausal women with posterior tibial tendon dysfunction: a case control study.

BACKGROUND: Posterior tibial tendon (PTT) insufficiency is considered as the main cause of adult acquired flat foot and is three times more frequent in females. High estrogen levels exert a positive effect on the overall collagen synthesis in tendons. We have previously demonstrated the association between some genetic single-nucleotide polymorphism (SNP) and tendinopathy. In the present study, we investigated the association of PvuII c454-397T>C (NCBI ID: rs2234693) and XbaI c454-351A>G (NCBI ID: rs9340799) SNPs in estrogen receptor alfa (ER-α) gene with PPT dysfunction. METHODS: A total of 92 female subjects with PTT dysfunction, with histopathological examination of the tendon and magnetic resonance image (MRI) evidence of tendinopathy, were compared to 92 asymptomatic females who presented an intact PPT at MRI for PvuII and XbaI SNPs in the ER-α gene. Genomic DNA was extracted from saliva and genotypes were obtained by polymerase chain reaction restriction fragment length polymorphism. RESULTS: The analysis of PvuII SNPs showed no significant differences in the frequency of alleles and genotypes between control and PTT dysfunction groups. The XbaI SNPs in the ER-α gene showed significant differences in the frequency of genotypes between control and test groups (p = 0.01; OR 95% 1.14 (0.55-2.33). CONCLUSIONS: The XbaI SNP in the ERα gene may contribute to tendinopathy, and the A/A genotype could be a risk factor for PTT tendinopathy in this population. The PvuII SNP studied was not associated with PTT tendinopathy.

Frequency of cervical intraepithelial neoplasia grade II or worse in women with a persistent low-grade squamous intraepithelial lesion seen by Papanicolaou smears.

PURPOSE: We investigated the frequency of cervical intraepithelial neoplasia (CIN) grade II or worse in low-income Brazilian women with persistent low-grade squamous intraepithelial lesions (LSIL). METHODS: A retrospective review of medical records was performed for all patients who underwent a loop electrosurgical excision procedure (LEEP) with "see and treat" strategy for persistent LSIL seen on Papanicolaou (Pap) smears (persisting >12 months in at least two consecutive tests, over a 50-month period. We assessed the colposcopy and histopathology results at the time of the procedure and at follow-up, using Pap and histopathology. RESULTS: Of 106 women, 48 (45.3 %) had no dysplasia by histopathology, 18 (17.0 %) had CIN I, 29 (27.4 %) had CIN II and 10 (9.4 %) had CIN III. Among the patients with CIN, 38 (66.7 %) performed the follow-up. Of these, only 4 (10.5 %) were classified as follow-up (+), all had CIN I. Women with initial CIN I had 16.7 % (n = 2) recurrences; those with initial CIN II had 5.9 % (n = 1); and those with initial CIN III had 11.1 % (n = 1) (p > 0.05). CONCLUSIONS: A very high proportion of the women with persistent LSIL had CIN II/III on post-LEEP histopathology. Recurrence rates were equal to than those that originally caused the patients to be subjected to LEEP (LSIL). The benefits of the "see and treat" protocol by LEEP for persistent LSIL outweigh the risk of overtreatment, principally in low-resource settings where poor patient compliance is expected, as in Brazil.

Cervical cytology of atypical squamous cells cannot exclude high-grade squamous intraepithelial lesion (ASC-H): histological results and recurrence after a loop electrosurgical excision procedure.

OBJECTIVES: To evaluate the histology of the loop electrosurgical excision procedure (LEEP) surgical tissues of patients with ASC-H and post-LEEP recurrence. METHODS: Medical records of patients with ASC-H treated with LEEP between January 2004 and March 2008 in the town of União da Vitória, Paraná, seat of the Sixth Public Health Region of Paraná (CISVALI), were evaluated. The LEEP was carried out solely for ASC-H immediately after colposcopy, but without a histological diagnosis. RESULTS: Most patients were less than 40 years old (71.1%), with the largest group 20-39 years old (p < 0.0001). Twenty-eight patients (73.3%) showed histological lesions. Cervical intraepithelial neoplasias (CIN) I was present in 7 (18.4%), CIN II and CIN III in 9 (23.7%) each, microinvasive squamous cell carcinoma (SCMCA) in 2 (5.3%), and SCMCA plus in situ adenocarcinoma in 1 (2.2%). In 32 patients (84.2%), there was no involvement of the margins, including 100% with no dysplasia histology and CIN I, 80.0% of those with CIN II, and 88.9% of those with CIN III. Two patients (5.3%) had endocervical involvement, all of them with CIN II. Four patients (10.5%) had ectocervical and endocervical involvement, one of them with CIN III, and three of them with carcinomas. All patients with follow-up (+) were ASC-US, with no patients with dysplasia or CIN I. CONCLUSIONS: A very high portion of the women with ASC-H had lesions on post-LEEP histological examination, principally CIN II and III. These data show the benefits of treatment for ASC-H by LEEP immediately after colposcopy but without any previous histology.