Characterization of CCDC103 expression profiles: further insights in primary ciliary dyskinesia and in human reproduction.

PROPOSE: To study CCDC103 expression profiles and understand how pathogenic variants in CCDC103 affect its expression profile at mRNA and protein level. METHODS: To increase the knowledge about the CCDC103, we attempted genotype-phenotype correlations in two patients carrying novel homozygous (missense and frameshift) CCDC103 variants. Whole-exome sequencing, quantitative PCR, Western blot, electron microscopy, immunohistochemistry, immunocytochemistry, and immunogold labelling were performed to characterize CCDC103 expression profiles in reproductive and somatic cells. RESULTS: Our data demonstrate that pathogenic variants in CCDC103 gene negatively affect gene and protein expression in both patients who presented absence of DA on their axonemes. Further, we firstly report that CCDC103 is expressed at different levels in reproductive tissues and somatic cells and described that CCDC103 protein forms oligomers with tissue-specific sizes, which suggests that CCDC103 possibly undergoes post-translational modifications. Moreover, we reported that CCDC103 was restricted to the midpiece of sperm and is present at the cytoplasm of the other cells. CONCLUSIONS: Overall, our data support the CCDC103 involvement in PCD and suggest that CCDC103 may have different assemblies and roles in cilia and sperm flagella biology that are still unexplored.

Effect of Mouth Rinse Treatments on Bleached Enamel Properties, Surface Morphology, and Tooth Color.

OBJECTIVE:: To evaluate, in vitro, the effect of mouth rinse exposure on bleached enamel. METHODS:: Enamel/dentin bovine blocks (4×4×2 mm) were bleached with 35% hydrogen peroxide (HP) and were submitted to immersion twice daily for 14 days with different rinses (n=10), including those involving: distilled water (C [control]), 225-ppm NaF (FM, Colgate Plax Classic), essential oil (EM, Listerine Tartar Control), 1.5% hydrogen peroxide (HPM, Colgate Plax Whitening), and 2% hydrogen peroxide, pyrophosphates, and 225-ppm NaF (HPM+P, Colgate® Luminous White). The specimens were stored in a remineralizing solution during all experiments. Analyses of color (ΔE, L*, a*, b*) and roughness (Ra) were performed at the baseline, after HP, and after exposure to the rinse. The cross-sectional microhardness (CSMH) and images by scanning electron microscopy (SEM) were assessed at the end. The data were subjected to analysis of variance (ANOVA) (ΔE), repeated measures ANOVA (Ra), and split-plot ANOVA (CSMH), followed by the Tukey test. The L*, a*, and b* values were analyzed by generalized linear models (α=0.05). RESULTS:: Color changes were not statistically different in the groups. Ra increased in all groups after bleaching; however, it was reestablished in C, FM, and HPM+F and increased in EM after 14 days of the rinse. EM and HPM reduced the CSMH values differing from C and promoted alterations on the enamel surface visualized by SEM. CONCLUSION:: The mouth rinses did not affect the whitening efficacy or promote benefits on bleached enamel properties. Moreover, the 1.5% hydrogen peroxide- or essential oil-based mouth rinses affected the bleached enamel properties, promoting an alteration in morphologic surface and mineral loss in depth.

Effect of Toothpaste Use Against Mineral Loss Promoted by Dental Bleaching.

AIM: To investigate the effect of different toothpaste formulations used prior to dental bleaching with 35% hydrogen peroxide (HP) on the mineral content and surface morphology of enamel. METHODS: Seventy bovine enamel blocks (4×4×2 mm) were submitted to in vitro treatment protocols using a toothbrushing machine prior to dental bleaching or a placebo procedure (n=10) as proposed in the following groups: unbleached control (PLA), bleached control (HP), and brushing with differing toothpastes prior to HP bleaching, including: potassium nitrate toothpaste containing sodium fluoride (PN), sodium monofluorophosphate/MFP toothpaste (FT), arginine-carbonate (8% arginine) (PA) or arginine-carbonate (1.5% arginine) toothpaste (SAN), and toothpaste containing bioactive glass (NM). Phosphorus concentration in gel ([P]) was evaluated (µg of P/mg of gel), and the elemental levels (wt%) of Ca, P, and Na as well as the proportion between Ca and P and spectra graphics were determined using an energy-dispersive X-ray spectrometer (EDS). The surface morphology was assessed using scanning electron microscopy (SEM). The data were subjected to analysis of variance and the Tukey test (α=0.05). RESULTS: HP demonstrated the greatest [P] values in gel, being statistically different from PLA. The [P] of NM was statistically similar to PLA. HP showed a significant decrease in the Ca% and Ca/P values when compared to PLA in EDS analysis. PA showed Ca/P values statistically different from HP. In accordance with SEM analysis, the PA, SAN, and NM groups presented a smooth and uniform enamel surface, while HP and FT demonstrated some alterations in morphology. CONCLUSION: The toothpastes containing bioactive glass or arginine carbonate used prior to dental bleaching were effective in protecting enamel against mineral loss promoted by the whitening procedure.

Expression of Estrogen Receptors Alpha (ER-α), Beta (ER-ß), and G Protein-Coupled Receptor 30 (GPR30) in Testicular Tissue of Men with Klinefelter Syndrome.

Men with Klinefelter syndrome (KS) present severe hormonal dysregulation, particularly elevated serum estradiol concentration. Estrogens act through specific receptors and regulate testes development and spermatogenesis. Herein, we evaluated GPR30, ERα, and ERß mRNA expression in testis of KS men and men with 46XY karyotype by reverse transcriptase and quantitative PCR. ERß transcripts are the most abundant in testicular tissue of 46XY men. Notably, testicular GPR30 transcription in KS men was approximately 12 times higher. Since GPR30 is essential to mediate estrogen effects over steroidogenesis, our data illustrate that GPR30 may underpin the testicular alterations observed in KS men.

Does inter-tibiofibular graft still have a role in the treatment of lower-limb non-union?

INTRODUCTION: Tibial non-union is a complication that poses a real challenge for surgeons. Several forms of treatment, depending on the type of non-union, have been described. The present study sought to assess results for treatment of tibial non-union by inter-tibiofibular graft (ITFG). MATERIAL AND METHOD: An exhaustive cohort study was performed on the files of 33 patients: 25 male, 8 female; mean age, 44years. Twenty cases involved high-energy trauma. Twenty-four were open fractures. Twenty-two concerned diaphyseal fracture, 10 of which were complex segmental. Eleven concerned distal fracture, including 4 complete articular fractures. There were 17 cases of septic non-union. There were no cases of severe bone defect. ITFG was performed at a mean 8.7 months post-trauma, as first-line treatment in 30 cases and in second line in 3. RESULTS: Thirty-one patients showed bone consolidation, at a mean 7.2 months. The 2 failures resulted from technical error. Trauma kinetics emerged as a risk factor for failure. DISCUSSION: ITFG remains a useful treatment option in tibial non-union, whether infected or not. The present results are comparable with those of the literature. Although the present series comprised only tight non-union, a study of the literature showed that ITFG can treat bone defects up to 4 or 5cm. Functional results showed tibiotalar joint stiffening, due more to immobilization and non-weight-bearing than to syndesmosis. ITFG thus remains relevant to the treatment of tibial non-union. LEVEL OF EVIDENCE: IV, retrospective study.

Electronically addressable nanomechanical switching of i-motif DNA origami assembled on basal plane HOPG.

Here, a pH-induced nanomechanical switching of i-motif structures incorporated into DNA origami bound onto cysteamine-modified basal plane HOPG was electronically addressed, demonstrating for the first time the electrochemical read-out of the nanomechanics of DNA origami. This paves the way for construction of electrode-integrated bioelectronic nanodevices exploiting DNA origami patterns on conductive supports.

Combined effects of lactoferrin and lysozyme on Streptococcus pneumoniae killing.

Streptococcus pneumoniae is a common colonizer of the human nasopharynx, which can occasionally spread to sterile sites, causing diseases such as otitis media, sinusitis, pneumonia, meningitis and bacteremia. Human apolactoferrin (ALF) and lysozyme (LZ) are two important components of the mucosal innate immune system, exhibiting lytic effects against a wide range of microorganisms. Since they are found in similar niches of the host, it has been proposed that ALF and LZ could act synergistically in controlling bacterial spread throughout the mucosa. The combination of ALF and LZ has been shown to enhance killing of different pathogens in vitro, with ALF facilitating the latter action of LZ. The aim of the present work was to investigate the combined effects of ALF and LZ on S pneumoniae. Concomitant addition of ALF and LZ had a synergistic killing effect on one of the pneumococci tested. Furthermore, the combination of ALF and ALZ was more bactericidal than lysozyme alone in all pneumococcal strains. Pneumococcal surface protein A (PspA), an important vaccine candidate, partially protects pneumococci from ALF mediated killing, while antibodies against one PspA enhance killing of the homologous strain by ALF. However, the serological variability of this molecule could limit the effect of anti-PspA antibodies on different pneumococci. Therefore, we investigated the ability of anti-PspA antibodies to increase ALF-mediated killing of strains that express different PspAs, and found that antisera to the N-terminal region of PspA were able to increase pneumococcal lysis by ALF, independently of the sequence similarities between the molecule expressed on the bacterial surface and that used to produce the antibodies. LF binding to the pneumococcal surface was confirmed by flow cytometry, and found to be inhibited in presence of anti-PspA antibodies. On a whole, the results suggest a contribution of ALF and LZ to pneumococcal clearance, and confirm PspA's ability to interact with ALF.

Treatment by testicular sperm extraction and intracytoplasmic sperm injection of 65 azoospermic patients with non-mosaic Klinefelter syndrome with birth of 17 healthy children.

The aim of this work was to present the clinical and embryological outcomes of 65 azoospermic patients with non-mosaic Klinefelter syndrome (KS), treated by testicular sperm extraction (TESE), followed by intracytoplasmic sperm injection (ICSI), either with fresh or cryopreserved testicular spermatozoa. In total, spermatozoa were recovered in 25/65 (38.5%) of the cases. Of the 48 patients who choose to perform TESE followed by ICSI using fresh testicular spermatozoa (treatment TESE), spermatozoa was recovered in 19 patients (40%), with birth of 12 newborn. Of the 17 patients who choose to perform TESE followed by testicular sperm cryopreservation, spermatozoa were recovered in six patients (35%), with birth of one child. Of the patients who performed treatment TESE, nine went for a new cycle using cryopreserved spermatozoa. Of these, five patients had a previous failed treatment cycle (two patients, three newborn) and four with a previous success went for a new cycle (one patient, one newborn). Overall, the embryological and clinical rates were as follows: 52% of fertilization, 41% of blastocyst, 27% of implantation, 39% of live birth delivery and 47% of newborn. Of the 16 clinical pregnancies, 14 had a successful delivery (12 girls and 5 boys). The 17 newborns had a mean gestation time of 37.2 weeks (35.3% pre-term) and a mean newborn weight of 2781.3 g (37.5% low weight). Comparisons between cycles with fresh and frozen-thaw spermatozoa revealed higher fertilization and clinical pregnancy rates with fresh spermatozoa, with no differences regarding implantation or newborn rates. Of the 17 newborns, no abnormal karyotypes (n = 3) or numerical abnormalities in chromosomes 13, 18, 21, X and Y (n = 14) as evaluated by Multiplex Ligation-dependent Probe Amplification were observed. In conclusion, this study presents further data that reassures that men with KS have no increased risk of transmitting their genetic problem to the offspring.

Adult circumcision and male sexual health: a retrospective analysis.

We aimed to evaluate possible associations of circumcision with several sexual dysfunctions and to identify predictors for the development of these outcomes post-operatively. Telephone surveys about sexual habits and dysfunctions before and after intervention were conducted post-operatively to patients that underwent circumcision in Centro Hospitalar Vila Nova de Gaia/Espinho during 2011. McNemar test was used for a matched-pairs analysis of pre- and post-operative data. Odds ratios, adjusted in a multivariate analysis, explored predictors of de novo sexual dysfunctions after circumcision. With intervention, there was an increase in frequency of erectile dysfunction (9.7% versus 25.8%, P = 0.002) and delayed orgasm (11.3% versus 48.4%, P < 0.001), and a significant symptomatic improvement in patients with pain with intercourse (50.0% versus 6.5%, P < 0.001). Significant predictors for de novo erectile dysfunction were diabetes mellitus (OR 9.81, P = 0.048) and lack of sexual desire (OR 8.76, P = 0.028). Less than three sex partners (OR 7.04, P = 0.007) and low sexual desire (OR 7.49, P = 0.029) were significant predictors for de novo delayed orgasm.

Caspase-3 detection in human testicular spermatozoa from azoospermic and non-azoospermic patients.

The apoptotic mechanisms underlying spermatogenesis in testis are poorly understood. In the present study, the rates of testicular spermatozoa with active caspase-3 were quantified in testicular samples with normal and impaired spermatogenesis. Testicular spermatozoa were collected from 18 men after testicular biopsy during assisted reproductive treatments: five presented oligozoospermia, four congenital bilateral absence of the vas deferens (CBAVD), five secondary obstructive azoospermia (sOAZ) and four hypospermatogenesis. Ejaculated samples were derived from six normozoospermic patients. Testicular spermatozoa were analysed using a fluorescence microscope and differences among groups were calculated using regression logistic models. Total rates of spermatozoa with active caspase-3 were significantly higher in sOAZ (78.6±13.9), followed by hypospermatogenesis (70.8±5.8), CBAVD (55.9±25.5), oligozoospermia (31.7±31.0) and normozoospermia (20.4±15.5). Distinct patterns of active caspase-3 were observed in testicular spermatozoa compartments: midpiece, equatorial region, acrosomal vesicle region, nucleus and cytoplasm. Hypospermatogenesis showed active caspase-3 mainly in the midpiece. In CBAVD, sOAZ and oligozoospermia, active caspase-3 was mainly in the nucleus, although no differences were found between oligozoospermia and hypospermatogenesis. In sOAZ, active caspase-3 in the spermatozoa nucleus was 1.89-fold higher than in CBAVD. Results suggest that tubular obstruction may induce nuclear lesions and that disrupted spermatozoa production observed in cases of hypospermatogenesis might be associated with mitochondrial lesions.

[Ambulatory surgery in urology: first numbers of a successful program]. / Cirurgia do ambulatório em urología: primeiros números de um programa de sucesso.

The ambulatory surgery includes those surgical procedures that require a small period of post-operative recovery so that the patients will be discharged from the hospital in the same day of the surgical intervention. In Urology, the vast amount of pathology that allows the cure with medium and low complexity surgical procedures makes this specialty a privileged one in which ambulatory surgery is concerned. In this paper the authors propose to describe how their Urology group works in the ambulatory field. 472 patients where reviewed in an evaluation period from January 2006 to April 2008. The medical appointment protocol is summarized as well as the most common surgical procedures and complications. Annually we operate an average of 200 ambulatory patients and this represents about 22% of the hole surgical activity of the Urology group. The majority of the surgeries are circumcisions and vasectomies (always associated with other small procedures). There is a 5 hours weakly period where a total of 5 to 6 patients are operated. Surgical complications represented 1.6% of total procedures, all of them late ones. With this specific ambulatory program our service managed to reduce drastically the waiting time for this kind of procedures (now-a-days is about 3-4 weeks), with a satisfaction rate of about 95%. According to the great outcomes, low complications rate and great acceptance of the patients, the development of this unit is without doubt a winning project in patients care.

[Pre-natal retroperitoneal mass: teratoma or fetus in fetu?]. / Masa prenatal retroperitoneal: teratoma o fetus in fetu?

BACKGROUND: Several case reports in the literature brought to discussion the distinction criteria between fetus in fetu and teratoma. CASE REPORT: The authors present a case report of a premature newborn boy, evaluated for a capsulated abdominal mass with prenatal diagnosis pointing to possible malignant lesion. A CT scan showed an expansive, retroperitoneal lesion, from kidneys to pelvis, sacrum and coccyx, with solid, cystic and fatty areas; the fine needle aspiration was inconclusive, and he underwent surgery on day 9 with partial resection of the lesion. A new procedure to complete the excision was performed 8 months later. The histopathologic examination of the two fragments showed mature and organized components of nervous system, respiratory and digestive apparatus (liver and pancreas included), thymus, nervous ganglia, skin and adnexa, musculoskeletal and brown adipose tissues; cartilage and several focus of calcification. These components showed a craniocaudal orientation, but no evidence of organoid formation. DISCUSSION: This case presents features of both teratoma and fetus in fetu. The assumption of either one of the diagnosis has prognostic implications, with resulting differences in clinical follow up and expectations about the child's health.

Masa prenatal retroperitoneal: ¿teratoma o fetus in fetu? / Pre-natal retroperitoneal mass: teratoma or fetus in fetu?

Introdución. Varios artículos de la literatura médica han hecho cobrar vigencia la discusión sobre criterios de distinción entre fetus infetu y teratoma. Caso clínico. Se presenta un caso de un recién nacido prematuro, evaluado por demostrar una masa abdominal encapsulada con signos de malignidad, que había sido diagnosticada en el período prenatal. La exploración de TAC demostró una lesión expansiva, retroperitoneal, que abarcaba de riñones a pelvis, sacro y cóccix, con áreas sólidas, quísticas y de grasa; la biopsia por aspiración con aguja fina era no concluyente, y se procedió a intervención en el noveno día de vida, con la resección parcial de la lesión. Un nuevo procedimiento para completarla exéresis de la masa fue realizado a los 8 meses. El examen histopatológico demostró componentes maduros y organizados del sistema nervioso, aparato respiratorio y digestivo (hígado y páncreas incluidos),timo, tejido adiposo marrón, ganglios del sistema nervioso autónomo, piel y anejos cutáneos, tejido muscular liso y estriado, cartílago y varios focos de calcificación. Estos componentes demostraban una orientación cráneo-caudal, pero no formaban órganos distintos. Discusión. Este caso presenta características de teratoma y fetus infetu. La asunción de cualquiera de los diagnósticos tiene implicaciones pronosticas, originando diferencias en el seguimiento médico y en las expectativas clínicas sobre la salud de niño (AU)

Background. Several case reports in the literature brought to discussion the distinction criteria between fetus in fetu and teratoma. Case report. The authors present a case report of a premature newborn boy, evaluated for a capsulated abdominal mass with prenatal diagnosis pointing to possible malignant lesion. A CT scan showed an expansive, retroperitoneal lesion, from kidneys to pelvis, sacrum and coccyx, with solid, cystic and fatty areas; the fine needle aspiration was inconclusive, and he underwent surgery on day 9 with partial resection of the lesion. A new procedure to complete the excision was performed 8months later. The histopathology examination of the two fragments showed mature and organized components of nervous system, respiratory and digestive apparatus (liver and pancreas included), thymus, nervous ganglia, skin and adnexa, musculoskeletal and brown adipose tissues; cartilage and several focus of calcification. These components showed a craniocaudal orientation, but no evidence of organoid formation. Discussion. This case presents features of both teratoma and fetus in fetu. The assumption of either one of the diagnosis has prognostic implications, with resulting differences in clinical follow up and expectations about the child’s health (AU)

Isolation of bovine immunoglobulins resistant to peptic digestion: new perspectives in the prevention of failure in passive immunization of neonatal calves.

In calves, neonatal mortality and disease susceptibility are greatly influenced by failure in passive immunization, normally provided by colostrum ingestion just after birth. Formulations projected to replace natural colostrum have not been successful, and one of the possible reasons for such failure is that orally administered Ig are probably digested in the gastrointestinal tract, so they are not absorbed as intact functional molecules. With the aim of finding an adequate colostrum substitute, we used columns of immobilized jacalin, a lectin known by its ability to bind O-linked oligosaccharides, to obtain a colostral Ig population putatively protected against enzymatic cleavage by the presence of sugar chains. Immunoglobulin G1 is a major constituent of colostrum Ig bound to jacalin (JB-Ig). This preparation contains 10% of the total colostral Ig and is typically 3 to 6 times more resistant to pepsin digestion than the Ig contained in the fraction that is not bound to jacalin, which presumably does not contain O-glycans. Mass spectrometry analysis demonstrated that the tryptic peptides obtained from JB-Ig and unbound Ig were similar, indicating that their distinct susceptibility to enzyme hydrolysis was associated with differences in their sugar chains. Therefore, the present research suggests that the bovine colostrum JB-Ig has potential application in the immunotherapy of neonatal calves that have not been supplied with colostrum.

Twenty years of liver transplantation in Brazil.

This paper summarizes the 20 years of liver transplantation in Brazil, in the context of the Western world scenario. More than 5000 liver transplantations have been performed in the country since September 1, 1985. The living-donor liver transplantation, one of the landmarks in liver transplantation, was first described by our team in 1989. Brazil is the seventh country in number of liver transplants in the Western world and the first in Latin America. Almost 1000 procedures were performed in 2004, 19% of them involving living donors.

Clonality and antimicrobial resistance gene profiles of multidrug- resistant Salmonella enterica serovar infantis isolates from four public hospitals in Rio de Janeiro, Brazil.

In Brazil, Salmonella enterica serovar Infantis resistant to various antimicrobials, including cephalosporins, has been identified as an etiological agent of severe gastroenteritis in hospitalized children since 1994. In this study, 35 serovar Infantis strains, isolated from children admitted to four different Rio de Janeiro, Brazil, hospitals between 1996 and 2001, were characterized by pulsed-field gel electrophoresis (PFGE) and antimicrobial susceptibility testing in order to determine their genetic relatedness and antimicrobial resistance profiles. Thirty-four serovar Infantis strains were resistant to at least two antibiotic classes, and all 35 strains were susceptible to fluoroquinolones, cephamycin, and carbapenem. Extended-spectrum beta-lactamase (ESBL) screening by double-disk diffusion indicated that 32 serovar Infantis strains (91.4%) produced beta-lactamases that were inhibited by clavulanic acid. Antimicrobial resistance gene profiles were determined by PCR for a subset of 11 multidrug-resistant serovar Infantis strains, and putative ESBLs were detected by isoelectric focusing. Ten serovar Infantis strains carried bla(TEM), catI, ant(3")Ia and/or ant(3")Ib, sulI and/or sulII, and tet(D) genes as well as an integron-associated aac(6')-Iq cassette. Eight strains possessed at least four different beta-lactamases with pI profiles that confirmed the presence of both ESBLs and non-ESBLs. Our PFGE profiles indicated that 33 serovar Infantis strains isolated from Rio de Janeiro hospitals came from the same genetic lineage.

Influência do momento da cobrição, em relação à ovulação, na fertilidade e na ocorrência de morte embrionária precoce em eqüinos / Influence of mating time, with respect to ovulation, on fertility and early embryonic death in equines

Verificou-se a influência do momento da cobrição, em relação à ovulação, na fertilidade e na ocorrência de morte embrionária precoce (MEP) em 405 éguas da raça Puro Sangue Inglês, acompanhadas por 629 ciclos estrais. As éguas foram divididas em cinco grupos, de acordo com o momento da cobrição: grupo I, composto por 79 éguas cobertas entre 48 e 36 horas antes da ovulação; grupo II, com 102 éguas cobertas 36 a 24 horas antes da ovulação; grupo III, com 166 éguas cobertas 24 a 12 horas antes da ovulação; grupo IV, com 185 éguas cobertas até 12 horas antes da ovulação; e grupo V, formado por 97 éguas cobertas até 12 horas após a ovulação. As ovulações foram determinadas por palpação retal e ultra-sonografia, realizadas a cada 12 horas. O diagnóstico de gestação foi feito 14 dias após a cobrição com auxílio de ultra-sonografia. Novo exame foi realizado aos 60 dias para verificar ocorrência de MEP. Maiores índices de prenhez foram observados nos grupos III e IV (P<0,06). Verificou-se comportamento quadrático da taxa de prenhez em função do momento da cobrição aos 14 dias (R²= 91,0 por cento; P<0,05) e aos 60 dias de prenhez (R²= 89,2 por cento; P<0,05). Não foi observada diferença entre os grupos para MEP pelo qui-quadrado, mas a análise de regressão revelou comportamento quadrático da variável (R²= 92,4 por cento; P<0,05). O melhor momento para cobrição foram as 24 horas que antecederam a ovulação.

The effect of time of mating (with respect to time of ovulation) on fertility and early embryonic death (EED) in the equine was quantified. Thoroughbred mares (n= 405) were observed during 629 estrous cycles. The mares were divided into five groups: I- 79 mares that were mated between 48 and 36 hours prior to ovulation; II- 102 mares that were mated between 36 and 24 hours prior to ovulation; III- 166 mares that were mated between 24 and 12 hours prior to ovulation; IV- 185 mares that were mated between 12 hours prior to ovulation and the time of ovulation; and V- 97 mares that were mated during the interval from ovulation to 12 hours after ovulation. The occurrence of an ovulation was determined by rectal palpation and ultrasonography, performed every 12 hours. The diagnosis of conception was done 14 days after mating with the help of ultrasonography. Ultrasonography examination to detect EED was done on the 60th day post-mating. Conception rates were highest in groups III and IV (P<0.06). The regression analysis verified a quadratic model for successful pregnancy 14 days (R² = 91.0 percent; P<0.05) and 60 days (R² = 89.2 percent; P<0.05) post-mating. Although groups did not differ significantly in EED, regression analysis verified a quadratic model (R² = 92.4 percent; P<0.05). Results suggest that the optimum time for mating is the interval from 24 hours prior to ovulation up to the time of ovulation.

The impact of lupus erythematosus cutaneous on the Quality of life: the Brazilian-Portuguese version of DLQI.

OBJECTIVE: To translate into Brazilian-Portuguese, culturally adapt and validate the DLQI. PATIENTS AND METHODS: The DLQI was translated into Brazilian-Portuguese and cultural adaptation was performed following the methodology proposed by Falcão. Inter-observer reliability and validity were assessed. Seventy-one patients with lupus erythematosus with cutaneous lesions selected from the outpatient dermatology clinic had their quality of life assessed by DLQI and SF-36. The validity of the Brazilian-Portuguese version of the DLQI was evaluated by the correlation of DLQI scores with SF-36 component scores and other outcome measures. RESULTS: In the translation and cultural adaptation process the basic structure of DLQI was kept. Very few questions have very slightly modifications. Of the 71 patients, 83% were women and the median (SD) age was 38 (12) years. The patients had a mean (SD) disease duration of 8(6) years. There were 46 patients with active cutaneous lesions and 37 patients with alopecia. The DLQI inter-observer reliability coefficient was 0.96 (p<0.001). The DLQI mean (SD) score was 6.5 (5.6) and most of the SF-36 domains were between 60 and 70. The domains that had the lowest scores were 'general health' (62) and 'mental health' (62). The Pearson correlation coefficient between DLQI and each SF-36 component score were highly statistically significant (p<0.001), despite of being only moderate. As expected there was no correlation between DLQI or each one of the SF-36 components and age, disease duration or number of ACR criteria. Patients with active cutaneous lesions presented statistically significant lower scores of DLQI and SF-36 when compared to patients without active cutaneous lesions. Patients with alopecia presented a statistically significant lower score in DLQI when compared to patients without alopecia. CONCLUSIONS: The results suggest that the Brazilian-Portuguese version of the DLQI is a reliable and valid outcome measure to be used in LE clinical studies.

A naturally occurring deletion in the SRY promoter region affecting the Sp1 binding site is associated with sex reversal.

Male to female sex reversal results from failure of testis development. Mutations in the SRY gene or in other genes involved in the sexual differentiation pathway are considered to cause XY gonadal dysgenesis. The majority of the mutations in the SRY described so far are located within the SRY coding region, mainly in the HMG-box conserved domain. Comparison of 5' flanking SRY gene sequences among different species indicated the presence of several putative conserved consensus sequences for different transcription regulators. In this study, we investigated a 360 bp sequence encompassing the SRY putative core promoter, in 17 patients with variable degrees of 46,XY sex reversal, which have been previously shown not to bear mutations in the SRYcoding region. Sequencing analysis of the SRYpromoter in one patient with complete XY gonadal dysgenesis revealed a three base pair deletion in one of the Sp1 binding sites. The deletion abolished Sp1 binding in vitro. This is the first report on a naturally occurring mutation affecting the Sp1 regulatory element in the SRY promoter region, which is associated with sex reversal. Additionally, upon familial investigation the father, who had 18 genital surgeries due to severe hypospadia without cryptorchidism, was found to bear the same deletion and several relatives were referred to have sexual ambiguity.

Predictive value of testicular histology in secretory azoospermic subgroups and clinical outcome after microinjection of fresh and frozen-thawed sperm and spermatids.

BACKGROUND: A retrospective study was carried out on 159 treatment cycles in 148 secretory azoospermic patients to determine whether histopathological secretory azoospermic subgroups were predictive for gamete retrieval, and to evaluate outcome of microinjection using fresh or frozen-thawed testicular sperm and spermatids. METHODS: Sperm and spermatids were recovered by open testicular biopsy and microinjected into oocytes. Fertilization and pregnancy rates were assessed. RESULTS: In hypoplasia, 97.7% of the 44 patients had late spermatids/sperm recovered. In maturation-arrest (MA; 47 patients), 31.9% had complete MA, and 68.1% incomplete MA due to a focus of early (36.2%) or late (31.9%) spermiogenesis. Gamete retrieval was achieved in 53.3, 41.2 and 93.3% of the cases respectively. In Sertoli cell-only syndrome (SCOS; 57 patients), 61.4% were complete SCOS, whereas incomplete SCOS cases showed one focus of MA (5.3%), or of early (29.8%) and late (3.5%) spermiogenesis. Only 29.8% of the patients had a successful gamete retrieval, 2.9% in complete and 77.3% in incomplete SCOS cases. In total, there were 87 ICSI, 39 elongated spermatid injection (ELSI) and 33 round spermatid injection (ROSI) treatment cycles, with mean values of fertilization rate of 71.4, 53.6 and 17%, and clinical pregnancy rates of 31.7, 26.3 and 0% respectively. CONCLUSIONS: Histopathological subgroups were positively correlated with successful gamete retrieval. No major outcome differences were observed between testicular sperm and elongated spermatids, either fresh or frozen-thawed. However, injection of intact round-spermatids showed very low rates of fertilization and no pregnancies.