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-β
) 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-β
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-β
SNP rs1256049 did not show differences in the frequencies of alleles and genotypes between groups. The
ER-β
SNP rs4986938, but not ER -β 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.
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.
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.
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).
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.
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-alpha) 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-alpha 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-alpha 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 ERalpha 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. Keywords: Tendinopathy, Estrogen receptor, Genetic polymorphism, Risk factor
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.
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-beta) 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-beta 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-beta SNP rs1256049 did not show differences in the frequencies of alleles and genotypes between groups. The ER-beta SNP rs4986938, but not ER -beta 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.
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.
The question of whether Chlamydia trachomatis (Ct) is a cofactor for human Papillomavirus (HPV) in cervical carcinogenesis is still controversial. We conducted a molecular detection study of both ...infections in 622 Brazilian women, including 252 women with different grades of abnormal cervical cytology and cervical cancer (CC; cases) and 370 women with normal cytology (controls). Although Ct infection did not seem related to CC carcinogenicity, women with abnormal cytology had a significant high rate of Ct infection. Therefore, it is important to adopt protocols for diagnosis and treatment of this bacterium in conjunction with screening for CC in this population.
The mechanisms that modulate the kinetics of muscle relaxation are critically important for muscle function. A prime example of the impact of impaired relaxation kinetics is nemaline myopathy caused ...by mutations in KBTBD13 (NEM6). In addition to weakness, NEM6 patients have slow muscle relaxation, compromising contractility and daily life activities. The role of KBTBD13 in muscle is unknown, and the pathomechanism underlying NEM6 is undetermined. A combination of transcranial magnetic stimulation-induced muscle relaxation, muscle fiber- and sarcomere-contractility assays, low-angle x-ray diffraction, and superresolution microscopy revealed that the impaired muscle-relaxation kinetics in NEM6 patients are caused by structural changes in the thin filament, a sarcomeric microstructure. Using homology modeling and binding and contractility assays with recombinant KBTBD13, Kbtbd13-knockout and Kbtbd13R408C-knockin mouse models, and a GFP-labeled Kbtbd13-transgenic zebrafish model, we discovered that KBTBD13 binds to actin - a major constituent of the thin filament - and that mutations in KBTBD13 cause structural changes impairing muscle-relaxation kinetics. We propose that this actin-based impaired relaxation is central to NEM6 pathology.
Abstract University of Wisconsin (UW) solution has been known as the standard solution for liver graft preservation. Alternative preservation solutions have been used in liver transplantation, such ...as histidine-tryptophan-ketoglutarate (HTK) and Celsior solution. Institut Georges Lopez-1 (IGL--1) is a new preservation solution with lower potassium and lower viscosity than UW solution that has recently been used in liver transplant. Data from 178 patients who received transplants from August 2008 to June 2013 at Hospital Santa Isabel, Blumenau, Brazil, were analyzed. All patients received grafts from brain death donors. In November 2011 we started to use IGL--1 as an alternate preservation solution. Therefore, 53 patients using IGL--1 preserved grafts were compared to 125 using HTK solution. The donor age in the HTK group ranged from 11–77 years, with a mean of 43.4 ± 4.8. In the IGL--1 group donor age ranged from 9–62 years, with a mean of 35.8 ± 4.5. Cold ischemia time in the HTK group ranged from 85–1145 minutes, mean 443.5 ± 183.5 minutes. In the IGL--1 group, cold ischemia time ranged from 85–670 minutes, mean 329.3 ± 134.8 minutes. The overall operative mortality rate was 14% (25 patients); in the HTK group, 14.4% (18 patients); and in the IGL--1 group, 13.4% (7 patients). One graft in the HTK group presented with primary non-function (PNF), 0.7%; there were none in the IGL--1 group. In our study, IGL--1 has been shown to be safe to use as a preservation solution for liver transplantation. Early post-transplant graft function was comparable to that observed with HTK solution, although a tendency for lower alanine aminotransferase levels was noticed. IGL--1 has been shown to be safe, cost efficient, and an effective preservation solution.
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