ABSTRACT Purpose: To compare biochemical recurrence, sexual potency and urinary continence outcomes of ablative therapy and radical treatment (radical prostatectomy or radiotherapy with androgen deprivation therapy). Material and methods: A systematic review and meta-analysis followed the PRISMA guidelines were performed. We searched MEDLINE/PubMed. Biochemical recurrence at three and five years; incontinence rate (patients who used one pad or more) and erectile dysfunction rate at 12 and 36 months (patients who did not have sufficient erection to achieve sexual intercourse) were evaluated. The Mantel-Haenszel method was applied to estimate the pooled risk difference (RD) in the individual studies for categorical variables. All results were presented as 95% confidence intervals (95%CI). Random effects models were used regardless of the level of heterogeneity (I²). (PROSPERO CRD42022296998). Results: Eight studies comprising 2,677 men with prostate cancer were included. There was no difference in biochemical recurrence between ablative and radical treatments. We observed the same biochemical recurrence between ablative therapy and radical treatment within five years (19.3% vs. 16.8%, respectively; RD 0.07; 95%CI=-0.05, 0.19; I2=68.2%; P=0.08) and continence rate at 12 months (9.2% vs. 31.8%, respectively; RD −0.13; 95%CI, −0.27, 0.01; I2=89%; P=0.32). When focal treatment was analyzed alone, two studies with 582 patients found higher erectile function at 12 months in the ablative therapy group than in the radical treatment (88.9% vs. 30.8%, respectively; RD −0.45; 95%CI −0.84, −0.05; I2=93%; P=0.03). Conclusion: Biochemical recurrence and urinary continence outcomes of ablative therapy and radical treatment were similar. Ablative therapy appears to have a high rate of sexual potency. Purpose therapy. . therapy) methods metaanalysis meta analysis performed MEDLINEPubMed MEDLINE PubMed MEDLINE/PubMed more 1 3 intercourse evaluated MantelHaenszel Mantel Haenszel (RD variables 95 95%CI. 95CI CI (95%CI) I². I² I (I²) PROSPERO CRD42022296998. CRD42022296998 CRD CRD42022296998) Results 2677 2 677 2,67 included treatments 19.3% 193 19 (19.3 vs 168 16 8 16.8% respectively 0.07 007 0 07 95%CI=0.05, 95CI005 95%CI= 0.05, 05 95%CI=-0.05 0.19 019 I2=68.2% I2682 I2 68 P=0.08 P008 P 08 9.2% 92 9 (9.2 318 31 31.8% −0.13 013 13 027 27 −0.27 0.01 001 01 I2=89% I289 89 P=0.32. P032 P=0.32 32 P=0.32) alone 58 88.9% 889 88 (88.9 308 30 30.8% −0.45 045 45 084 84 −0.84 −0.05 005 I2=93% I293 93 P=0.03. P003 P=0.03 03 P=0.03) Conclusion similar (95%CI (I² CRD4202229699 267 67 2,6 19.3 (19. 16.8 0.0 00 95%CI=0.05 95CI00 0.05 95%CI=-0.0 0.1 I2=68.2 I268 6 P=0.0 P00 9.2 (9. 31.8 −0.1 02 −0.2 I2=89 I28 P03 P=0.3 5 88.9 (88. 30.8 −0.4 04 4 −0.8 −0.0 I2=93 I29 (I CRD420222969 26 2, 19. (19 16. 0. 95%CI=0.0 95CI0 95%CI=-0. I2=68. I26 P=0. P0 9. (9 31. −0. I2=8 88. (88 30. I2=9 CRD42022296 (1 95%CI=0. 95%CI=-0 I2=68 P=0 ( −0 I2= (8 CRD4202229 95%CI=0 95%CI=- I2=6 P= − CRD420222 CRD42022 CRD4202 CRD420 CRD42 CRD4

ABSTRACT Introduction: The MCM8 gene is involved in the homologous recombination and repair of double-stranded DNA breaks. It maintains the meiotic process continuously. If the MCM8-9 helicase does not function, the accumulation of DNA breaks can result in cell death. Studies have reported MCM8 gene suppression with primary ovarian insufficiency. In the present study, a variant of the MCM8 gene was investigated in women with primary ovarian insufficiency to elucidate the role of MCM8 in this pathology. Objective: To evaluate the frequency of the NG_042869.1:g.40270G>A variant of the MCM8 gene in the study population. Methods: The MCM8 gene variant was analyzed via real-time polymerase chain reaction using a hydrolysis probe in DNA samples from women diagnosed with primary ovarian insufficiency, with a normal karyotype and without FMR1 gene permutation, and from a Control Group, who had menopause after 50 years of age. Frequencies were compared using Fisher's exact test. Results: A total of 100 samples from the Case Group and 100 samples from the Control Group were selected. The variant was detected in heterozygosity in a Case Group sample but was not identified in the Control Group. Discussion: This variant was first described in a consanguineous Arab family. This variant is classified as pathogenic and has a prevalence of 1% in women with primary ovarian insufficiency. This study is a pioneering investigation of this variant in Brazilian women. Conclusion: These findings suggest that the rs138761187 variant of the MCM8 gene is rare in Brazilian women. Introduction MCM doublestranded double stranded continuously MCM89 9 MCM8- function death pathology Objective NG_042869.1g.40270G>A NG0428691g40270GA NGgGA NG_042869.1 g.40270G>A NG 042869 1 g 40270G G population Methods realtime real time FMR permutation 5 age Fishers Fisher s test Results 10 selected Discussion family Conclusion rs rs13876118 1g GA NG0428691 NG_042869. g40270GA gGA 04286 rs1387611 NG042869 NG_042869 0428 rs138761 NG04286 NG_04286 042 rs13876 NG0428 NG_0428 04 rs1387 NG042 NG_042 0 rs138 NG04 NG_04 rs13 NG0 NG_0 rs1 NG_

ABSTRACT Introduction To evaluate the possible effects of the coronavirus disease 2019 (COVID-19) pandemic on the oncologic results of patients with prostate cancer regarding clinical staging, presence of adverse pathological outcomes, and perioperative complications. Materials and methods This retrospective study included patients who underwent radical prostatectomy. The time between biopsy and surgery, staging tests, final histopathological evaluation after surgery, lymphadenectomy rate, postoperative complications, and prostatic specific antigen (PSA) levels (initial and 30 days after surgery) were analyzed and compared in a group of patients before and during the pandemic period. Results We included 226 patients: 88 in the pre-pandemic period and 138 during the pandemic period. There was no statistically significant difference in mean age, body mass index, ASA, pathological locally advanced disease, the proportion of patients who underwent lymphadenectomy, and ISUP grade in the biopsy between the groups. Positive surgical margins, prostatic extracapsular extension, and PSA levels at 30 days were also similar between the groups. The mean time between medical consultation and surgery was longer in the pandemic period than in the pre-pandemic (124 vs. 107 days, p<0.001), and the mean time between biopsy and medical consultation (69.5 days vs. 114 days, p<0.001) and between biopsy and surgery (198.5 days vs. 228 days, p=0.013) was shorter during the pandemic. The incidence of severe early and late perioperative complications was similar between the periods. Conclusions There was no delay between diagnosis and treatment at our institution during the COVID-19 pandemic period. No worsening of the prostate cancer features was observed. 201 COVID19 COVID 19 (COVID-19 outcomes prostatectomy tests rate (PSA initial 3 22 8 prepandemic pre 13 age index ASA groups margins extension 124 (12 vs 10 p<0.001, p0001 p p<0.001 , 0 001 69.5 695 69 5 (69. 11 198.5 1985 198 (198. p=0.013 p0013 013 periods COVID-1 observed 20 COVID1 1 (COVID-1 2 12 (1 p000 p<0.00 00 69. 6 (69 198. (198 p=0.01 p001 01 COVID- (COVID- ( p00 p<0.0 (6 (19 p=0.0 (COVID p0 p<0. p=0. p<0 p=0 p< p=

ABSTRACT Objective The follicle-stimulating hormone subunit beta gene rs10835638 variant (c.-211G>T) may have detrimental effects on fertility and protective effects against endometriosis. A case-control analysis was performed, aiming to investigate the possible relationship between this variant and the development and/or progression of endometriosis. Methods This study included 326 women with endometriosis and 482 controls without endometriosis, both confirmed by inspection of the pelvic cavity during surgery. Genotyping was performed using a TaqMan real-time polymerase chain reaction assay. Genotype and allele frequencies and genetic models were compared between the groups. Results The genotype and allele frequencies of the rs10835638 variant did not differ between women with and those without endometriosis. Subdividing the endometriosis group into fertile and infertile groups did not result in a significant difference in these frequencies. However, the subgroup with minimal/mild endometriosis had a higher frequency of the GT genotype than the Control Group, regardless of fertility. The T allele was significantly more common in women with minimal/mild endometriosis than in the Control Group in the recessive model. Conclusion The T allele is associated with the development of minimal/mild endometriosis in Brazilian women. folliclestimulating follicle stimulating rs rs1083563 c.211G>T c211GT cGT c. 211G>T c 211G G (c.-211G>T casecontrol case control andor or 32 48 surgery realtime real time assay However minimalmild minimal mild model rs108356 211GT 3 4 rs10835 rs1083 rs108 rs10 rs1

ABSTRACT Objective To analyze the characteristics of public health services related to radical prostatectomy, according to hospital volume of surgeries and stratified as academic and non-academic centers. Methods An ecological study was conducted using a database available in TabNet platform of the Unified Health System Department of Informatics. Number of surgeries, length of hospital stay, length of stay in intensive care unit, in-hospital mortality rate, and cost of hospitalization were evaluated. The hospitals were divided into three subgroups according to surgery volume (tercile), and results were compared. The same comparisons were made among academic and non-academic centers. We considered academic centers those providing Urology residency program. Results A total of 11,259 radical prostatectomies were performed in the city of São Paulo between 2008 and 2018. We observed a significant trend of increase in radical prostatectomies for treating prostate cancer over the years (p=0.007). The length of stay in intensive care unit, and number of deaths were not statistically different among centers with diverse surgery volume, nor between academic and non-academic centers. However, length of hospital stay was significantly shorter in academic centers (p=0.043), while cost of hospitalization was significantly higher in high-volume center compared to low- (p<0.001) and intermediate-volume centers (p<0.001). Conclusion Length of hospital stay for radical prostatectomies performed in public services in the city of São Paulo was shorter in academic centers, whereas hospitals with a high volume of surgeries showed greater cost of hospitalization.

RESUMO Introdução: o tratamento do câncer de adrenal benigno (hormonalmente ativo ou não funcional) e maligno inclui a adrenalectomia. A experiência dos cirurgiões e a cirurgia realizada por cirurgiões de alto volume foram associadas a menos complicações e menor custo. O objetivo do estudo foi descrever e comparar o número de cirurgias, a taxa de mortalidade e o tempo de internação para adrenalectomias realizadas entre 2008 e 2019 na rede pública de saúde de São Paulo. Métodos: trata-se de um estudo ecológico. Os dados foram coletados da Plataforma TabNet do Departamento de Informática do Sistema Único de Saúde. Os hospitais foram divididos em três subgrupos de acordo com o volume cirúrgico e hospitais com e sem programa de residência médica em Urologia. Os resultados foram comparados entre os grupos. Resultados: no período estudado, 943 adrenalectomias foram realizadas em São Paulo. As taxas de mortalidade durante a internação de acordo com o volume cirúrgico hospitalar foram: não foram relatados óbitos em hospitais de baixo volume; 0,015% em hospitais de volume intermediário e 0,004% em alto volume. O tempo médio de permanência na UTI foi de 1,03 dias nos hospitais de baixo volume; 2,8 nos de médio volume e 1,12 nos de alto volume (análise entre centros de médio e alto volume com significância estatística, p=0,016). Conclusão: as taxas de mortalidade foram muito baixas em todos os grupos. A permanência na UTI foi menor em centros de alto volume do que em centros de volume intermediário.

ABSTRACT Introduction: treating benign (hormonally active or nonfunctional) and malignant adrenal cancer includes adrenalectomy. The expertise of surgeons and surgery performed by high-volume surgeons were associated with fewer complications and lower cost. We aimed to describe and compare the number of surgeries, mortality rate, and length of hospital stay for adrenalectomies performed between 2008 and 2019 in the public health system of São Paulo. Methods: this was an ecological study. The data were collected using the TabNet Platform of the Unified Health System Department of Informatics. Outcomes analyzed included the number of surgeries performed, mortality rate during hospital stay, and length of hospital stay. Public hospitals in Sao Paulo were divided into three subgroups according to the surgical volume of adrenalectomies performed as well as hospitals with and without a residency program in Urology, and the results were compared among them. Results: a total of 943 adrenalectomies were performed in Sao Paulo between 2008 and 2019. Mortality rates during hospital stay according to hospital surgical volume were no reported deaths in low-volume, 0.015% in intermediate-volume, and 0.004% in high-volume hospitals. The average length of the ICU stay was 1.03 days in low-volume, 2.8 in intermediate-volume, and 1.12 in high-volume hospitals (analysis between intermediate and high volume centers with statistical significance, p=0.016). Conclusions: despite no statistically significant differences among the groups analyzed, mortality rates were very low in all groups. ICU stay was shorter in high-volume centers than in intermediate-volume centers.

ABSTRACT Objective To describe and compare the number of surgeries, mortality rate, length of hospital stay, and costs of transurethral resection of the prostate and open prostatectomy for the treatment of benign prostatic hyperplasia, between 2008 and 2018, in the Public Health System in São Paulo, Brazil. Methods Ecological and retrospective study using data from the informatics department of the Brazilian Public Health System database. Procedure codes were “open prostatectomy” and “transurethral resection of the prostate.” The outcomes analyzed were compared between transurethral resection of the prostate and open prostatectomy according to the hospital surgical volume and presence or absence of a residency program. Results A total of 18,874 surgeries were analyzed (77% transurethral resection of the prostate) and overall mortality was not statistically different between procedures. Intermediate and high-volume centers had shorter length of hospital stay than low-volume centers for transurethral resection of the prostate (3.28, 3.02, and 6.58 days, respectively, p=0.01 and p=0.004). Length of hospital stay was also shorter for open prostatectomy in high-volume compared to low-volume centers (4.86 versus 10.76 days, p=0.036). Intrahospital mortality was inversely associated with surgical volume for transurethral resection of the prostate. Centers with residency program had shorter length of hospital stay considering open prostatectomy and less mortality regarding transurethral resection of the prostate. Open prostatectomy was 64% more expensive than transurethral resection of the prostate. Conclusion The findings suggest the importance of investing in specialized centers, which could be potential referral centers for surgical cases.

ABSTRACT Objective: To assess whether there is an association between the level of progesterone on the day of administration of human chorionic gonadotropin and clinical and laboratory characteristics, in addition to the results of in vitro fertilization of patients with a good prognosis. Methods: A cross-sectional study comprising 103 women who underwent intracytoplasmic sperm injection treatment, between November 2009 and May 2015, aged ≤35 years, with no comorbidities, with fresh embryo transfer. Data were collected from patient medical records. Results: There was a weak positive correlation between the level of progesterone on the day of human chorionic gonadotropin and the number of follicles larger than 14mm (ß=0.02, p=0.001), retrieved oocytes (ß=0.01, p=0.01) and oocytes in metaphase II (MII) (ß=0.02, p=0.02); that is, the increase in progesterone level has a slight association with increased values of these variables. Body mass index was inversely correlated with progesterone level on the day of human chorionic gonadotropin (ß=-0.01, p=0.02). No association was found between the level of progesterone on the day of human chorionic gonadotropin and the protocols used for controlled ovarian stimulation, quality of transferred embryos and the pregnancy rate. Conclusion: There is an association between the value of progesterone on the day of human chorionic gonadotropin administration with body mass index, number of follicles larger than 14mm, number of retrieved oocytes and oocytes in metaphase II. Unlike embryo quality and pregnancy rate, which do not have a statistically significant relation with this value in the population studied.

ABSTRACT Objective To evaluate the predictive value of positron emission computed tomography or magnetic resonance (PET-CT and PET-MRI) using gallium-68-labeled prostate-specific membrane antigen (68Ga-PSMA) in lymph node involvement in prostate cancer. Methods A retrospective study comprising 91 patients diagnosed with prostate cancer between 2016 to 2020, who underwent 68Ga-PSMA PET-CT or PET-MRI for staging before prostatectomy. The patients were divided into Group 1, with 65 patients with satisfactory pathological lymph node analysis, and Group 2, with 91 patients representing the sum of patients with pathological lymph node analysis and those with postoperative prostate-specific antigen within 60 days after surgery. Receiver Operating Characteristic curves were used to assess accuracy of predictive capacity of imaging exams for lymph node involvement. Results Regarding local clinical staging, the groups showed similar results, and 50% were classified as staging T2a. The accuracy of 68Ga-PSMA PET-CT for prostate cancer lymph node staging was 86.5% (95%CI 0.74-0.94; p=0.06), with a sensitivity of 58.3% and specificity of 95%. The accuracy of 68Ga-PSMA PET-MRI was 84.6% (95%CI 0.69-0.94; p=0.09), with a sensitivity of 40% and specificity of 100%. Considering both 68Ga-PSMA PET-CT and PET-MRI, the accuracy was 85.7% (95%CI 0.76-0.92; p=0.015), with sensitivity of 50% and specificity of 97%. Conclusion The imaging tests 68Ga-PSMA PET-CT and PET-MRI were highly accurate to detect preoperative lymph node involvement, and could be useful tools to indicate the need for extended lymph node dissection during radical prostatectomy.

RESUMO Objetivo: Comparar os resultados obtidos pela metodologia clássica e molecular na análise de produtos de concepção, além das vantagens e desvantagens de cada método. Métodos: Análise retrospectiva não randomizada dos resultados obtidos a partir de amostras de produto de concepção submetidas à avaliação genética, de 2012 a 2017. As análises foram realizadas por citogenética clássica e/ou análise cromossômica de microarray ou arrays. Resultados: Quarenta amostras foram analisadas por citogenética, das quais 10% não apresentaram crescimento celular, 50% apresentaram resultados normais, e 40% apresentaram anormalidades. Dos 41 casos encaminhados para análise por array, não foi possível obter resultados em 7,3%, 39,5% eram normais, e 60,5% apresentavam alterações. Não houve diferença estatística entre os resultados (p=0,89). A maioria dos resultados anormais foi observada até a nona semana de gestação. Uma perda fetal mais tardia foi observada na 28ª semana de gestação, com cariótipo 46,XX,del(15)(q26.2-qter). Os números observados corroboraram a literatura mundial. Conclusão: As técnicas de citogenética clássica e análise por array mostraram resultados comparáveis no tipo de alteração observada. O array é preferível à cultura de células em abortos tardios, enquanto a citogenética é mais capaz de mostrar poliploidias. Ambos têm as mesmas taxas de falha de crescimento quando o tecido do produto de concepção não é coletado adequadamente.

ABSTRACT Objective: To compare the results obtained by the classic and molecular methodology in the analysis of products of conception, the advantages and disadvantages of each method. Methods: Retrospective non-randomized analysis of results obtained from product of conception samples submitted to genetic evaluation, from 2012 to 2017. The evaluations were performed using cytogenetics and/or chromosomal microarray analysis or arrays. Results: Forty samples were analyzed using classic cytogenetics, of which 10% showed no cell growth, 50% had normal results and 40% had abnormalities. Of the 41 cases sent for array analysis it was not possible to obtain results in 7.3%, 39.5% were normal and 60.5% had abnormalities. There was no statistical difference among the results (p=0.89). Most abnormal results were seen till 9 weeks’ gestation. The later abnormal miscarriage was seen at 28 weeks’ gestation, with karyotype 46,XX,del(15)(q26.2-qter). The results are corroborated by the international literature. Conclusion: Classic cytogenetics and array techniques showed comparable results on the type of alteration observed. Array analysis is preferable to cell culture in delayed abortions, while cytogenetics is more able to show polyploidies. Both have the same growth failure rates when product of conception tissue is not properly collected.

RESUMO Objetivo Comparar a efetividade dos progestágenos orais em relação à medicação injetável antagonista de hormônio liberador de gonadotrofina na preservação da fertilidade oncológica de pacientes com câncer de mama. Métodos Estudo transversal com 40 pacientes com câncer de mama submetidas à preservação da fertilidade oncológica, que foram divididas em dois grupos, conforme análise histoquímica dos receptores de progesterona, para definir o bloqueio de hormônio luteinizante: se positivos, uso de antagonista de hormônio liberador de gonadotrofina; se negativos, uso de progestágenos orais. Comparou-se média de idade, dias de medicações, contagem de folículos antrais, número de oócitos em metáfase II e ocorrência de síndrome do hiperestímulo ovariano. Resultados Vinte pacientes, tanto no grupo com uso de antagonista de hormônio liberador de gonadotrofina, quanto no grupo com progestágenos orais, respectivamente, apresentaram média de idade de 33,9 (32-35,8) e 33,8 (32-35,6) anos; 11 (9,7-12,3) e 12,8 (11,6-13,9) de dias de medicações com p=0,037; contagem de folículos antrais de 9 (7,11-12) e 8,5 (6-11,9), com p=0,370; número de oócitos metáfase II de 4 (2,1-9,8) e 7,5 (3,1-10), com p=0,348, e síndrome do hiperestímulo ovariano de 2 casos (10%) e 5 casos (25%), com p=0,212. Conclusão O uso de progestágenos orais, apesar de necessitar de maior tempo de tratamento, é efetivo em relação ao protocolo com antagonista de hormônio liberador de gonadotrofina e oferece maior conforto com menor custo em pacientes com câncer de mama com receptores de progesterona negativos, submetidas à preservação da fertilidade oncológica.

ABSTRACT Objective To compare the effectiveness of oral progestins and injectable gonadotropin-releasing hormone antagonist medication in cancer fertility preservation in patients with breast cancer. Methods A cross-sectional study with 40 breast cancer patients submitted to cancer fertility preservation, who were divided into two groups according to histochemical analysis of progesterone receptors to define luteinizing hormone block: if positive, use of gonadotropin-releasing hormone antagonist, if negative, use of oral progestins. The mean age, medication days, antral follicle count, number of oocytes in metaphase II and the occurrence of ovarian hyperstimulation syndrome were compared. Results A total of 20 patients both in the group using gonadotropin-releasing hormone antagonist, and in the group with oral progestins, respectively, had a mean age of 33.9 (32-35.8) and 33.8 (32-35.6) years; days of medications of 11 (9.7-12.3) and 12.8 (11.6-13.9), p=0.037; antral follicle count of 9 (7.11-12) and 8.5 (6-11.9), p=0.370; metaphase II oocyte number of 4 (2.1-9.8) and 7.5 (3.1-10), p=0.348; and ovarian hyperstimulation syndrome of 2 (10%) and 5 (25%) cases, p=0.212. Conclusion The use of oral progestins, in spite of requiring longer treatment time, is effective in relation to the protocol with gonadotropin-releasing hormone antagonist, and offers greater comfort at a lower cost in breast cancer patients with negative progesterone receptors, submitted to cancer fertility preservation.

Resumo Objetivo Este artigo tem como objetivo avaliar o impacto do tratamento com testosterona na expansão dos tecidos adiposos visceral, subcutâneo e intramedular de ratas ovariectomizadas e a expressão de receptores ativados por proliferadores de peroxissoma (RAPPs) gama nas gorduras visceral e subcutânea. Métodos No total, 48 ratas Wistar foram castradas e divididas aleatoriamente em 6 grupos de tratamento: o grupo E2 recebeu estradiol 5 μg/dia; o grupo T, testosterona 5 μg/dia; o grupo E2 + T, estradiol 5 μg/dia + testosterona 5 μg/dia; o grupo TT, testosterona 30 μg/dia; o grupo E2 + TT, estradiol 5 μg/dia + testosterona 30 μg/dia; e o grupo P recebeu placebo. Após 5 semanas, as ratas foram submetidas a eutanásia, o tecido adiposo inguinal e visceral foi coletado, pesado, e se avaliou a expressão dos RAPP gama por reação em cadeia da polimerase via transcriptase reversa quantitativa (RCP-TRq). Os ossos do fêmur direito foram colhidos e processados histologicamente para contagem de números de adipócitos intramedulares. Resultados A expansão do tecido adiposo visceral foi muito maior no grupo TT quando comparado a outros grupos tratados (p < 0,001). O grupo TT também apresentou maior expansão da gordura inguinal (p < 0,01), e os grupos E2 +T e E2 + TT apresentaram menor crescimento em relação ao grupo P (p < 0,01). O número de adipócitos intramedulares no fêmur mostrou apenas diferenças significativas entre os grupos TT e E2 + TT (p < 0,05). A expressão de RAPP gama não mostrou diferenças entre os grupos. Conclusão O uso de testosterona emaltas doses leva a uma importante expansão nos tecidos adiposos visceral e inguinal. A associação com o estradiol exerce um efeito repressivo de expansão nos tecidos adiposos visceral e inguinal.

Abstract Objective The present article aims to evaluate the impact of testosterone treatment on the expansion of visceral, subcutaneous and intramedullary adipose tissue of ovariectomized rats and the visceral and subcutaneous fat expression of peroxisome proliferator-activated receptors (PPARs) gamma. Methods In total 48 female Wistar rats were castrated and randomly divided into 6 treatment groups: group E2 was submitted to estradiol 5 μg/day; group T, to testosterone 5 μg/day; group E2+ T, to estradiol 5 μg/day + testosterone 5 μg/day; group TT, to testosterone 30 μg/day; group E2+ TT, to estradiol 5 μg/day+ testosterone 30 μg/day; and placebo was administered to group P. After 5 weeks, the rats were euthanized, the inguinal and visceral adipose tissues were harvested, weighted, and had their PPAR gamma expression evaluated by reverse transcription quantitative polymerase chain reaction (RTqPCR). The right femurs were harvested and histologically prepared to performthe number count of the intramedullary adipocytes. Results The expansion of visceral fat tissue was much higher in the TT group when compared with other treated groups (p < 0.001). The TT group also showed a higher expansion of inguinal fat (p < 0.01), and groups E2 +T and E2+ TT presented lower growth compared to the P group (p < 0.01). The number of femur intramedullary adipocytes only showed significant differences between groups TT and E2 + TT (p < 0.05). The expression of PPAR gamma showed no differences among the groups. Conclusion The use of testosterone in high doses leads to an important expansion in both visceral and inguinal adipose tissues. Association with estradiol exerts an expansion-repressive effect on the visceral and inguinal adipose tissues.

Abstract Objectives: This study approaches the history of reclassifications and redefinitions around the odontogenic keratocyst (OK), as proposed by the World Health Organization (WHO), and aims to understand the impact of those changes on the prevalence and epidemiology of odontogenic tumors (OTs). Methodology: Cases of OTs diagnosed in an Oral Pathology service between January 1996 and December 2016 were reviewed. Demographic data of patients such as age, gender and site of lesions were retrieved from their respective records. Results: Within the studied period, 7,805 microscopic reports were elaborated and 200 (2.56%) of these were diagnosed as OTs. Out of these 200, between 1996 and 2005, prior to the 2005 WHO classification, there were 41 (20.5%) OTs cases, being odontoma the most frequent (23; 56.09%), followed by ameloblastoma (8; 19.51%) and myxoma (03; 7.31%). Between 2006 and 2016, after the previous 2005 WHO classification there were 159 (79.5%) OTs, being odontogenic keratocystic tumor (KCOT) the most frequent (68; 42.76%), followed by odontoma (39; 24.52%) and ameloblastoma (21; 13.20%). Conclusions: As of today, the most recent WHO classification to be followed brings KCOT back to the cyst category, which will impact on the prevalence and epidemiology of OTs; thus, this study was able to identify a considerable increase (287.80%) in the prevalence of OTs when the 2005 WHO classification was utilized. Despite being an important academic exercise, classifying odontogenic lesions and determining whether to place the odontogenic keratocyst in a cyst or tumor category is crucial to establish the correct diagnosis and treatment to follow, whether by oral medicine or oral surgery specialist, or by the general practitioner.

RESUMO O termo “epidermólise bolhosa” descreve um grupo de afecções cutâneas causadas por mutações em genes que codificam proteínas relacionadas à aderência dermoepidérmica. Nos Estados Unidos, estima-se a ocorrência de 50 casos de epidermólise bolhosa por 1 milhão de nascidos vivos, sendo 92% deles da forma simples, 5% da forma distrófica, 1% da forma juncional e 2% não classificados. A epidermólise bolhosa do tipo distrófica foi associada a padrões autossômicos, dominante e recessivo. A epidermólise bolhosa causa sérios impactos psicológicos, econômicos e sociais, e não há tratamento curativo atualmente − apenas controle dos sintomas. A seleção embrionária é disponível para portadores de epidermólise bolhosa, a fim de evitar a perpetuação da condição em seus descendentes.

ABSTRACT Epidermolysis bullosa describes a group of skin conditions caused by mutations in genes encoding proteins related to dermal-epidermal adhesion. In the United States, 50 cases of epidermolysis bullosa per 1 million live births are estimated, 92% of which classified as simplex, 5% dystrophic, 1% junctional and 2% non-classified. Dystrophic epidermolysis bullosa is associated with autosomal, dominant and recessive inheritance. Epidermolysis bullosa causes severe psychological, economic and social impacts, and there is currently no curative therapy, only symptom control. Embryonic selection is available for epidermolysis bullosa patients in order to prevent perpetuation of the condition in their offspring.

RESUMO A distrofia muscular de Duchenne é a doença muscular mais comum observadas em crianças do sexo masculino. Atualmente, não há terapia eficaz disponível para distrofia muscular de Duchenne, portanto, é essencial o diagnóstico pré-natal e o aconselhamento genético para reduzir o nascimento desses meninos. Relatamos um caso de diagnóstico genético pré-implantação associado à distrofia muscular de Duchenne. O casal E.P.R., 38 anos, heterozigota, sintomática para uma mutação de deleção dos éxons 2 a 47 no gene DMD e G.T.S., 39 anos, buscaram aconselhamento genético sobre o processo de diagnóstico genético pré-implantação. O casal relatou que tiveram um filho de 6 anos que morreu devido a complicações da distrofia muscular de Duchenne. Os pacientes realizaram quatro ciclos de injeção intracitoplásmica de espermatozoides (ICSI) e oito biópsias de embriões foram analisadas por reação em cadeia da polimerase (PCR) para análise de mutação específica, seguida hibridação genômica comparativa baseada em microarranjos ( array CGH) para a pesquisa de aneuploidias. O diagnóstico genético pré-implantação revelou que dois embriões haviam herdado a mutação materna no gene DMD , um embrião tinha uma alteração cromossômica e cinco embriões eram normais. Um blastocisto foi transferido e resultou em gravidez bem sucedida. Os outros embriões permanecem vitrificados. Concluímos que a análise de embriões utilizando técnicas associadas de PCR e CGH array mostrou-se segura para a seleção de embriões em casos de doenças ligadas ao X, como a distrofia muscular de Duchenne.

ABSTRACT Duchenne muscular dystrophy is the most common muscle disease found in male children. Currently, there is no effective therapy available for Duchenne muscular dystrophy patients. Therefore, it is essential to make a prenatal diagnosis and provide genetic counseling to reduce the birth of such boys. We report a case of preimplantation genetic diagnosis associated with Duchenne muscular dystrophy. The couple E.P.R., 38-year-old, symptomatic patient heterozygous for a 2 to 47 exon deletion mutation in DMD gene and G.T.S., 39-year-old, sought genetic counseling about preimplantation genetic diagnosis process. They have had a 6-year-old son who died due to Duchenne muscular dystrophy complications. The couple underwent four cycles of intracytoplasmic sperm injection (ICSI) and eight embryos biopsies were analyzed by polymerase chain reaction (PCR) for specific mutation analysis, followed by microarray-based comparative genomic hybridisation (array CGH) for aneuploidy analysis. Preimplantation genetic diagnosis revealed that two embryos had inherited the maternal DMD gene mutation, one embryo had a chromosomal alteration and five embryos were normal. One blastocyst was transferred and resulted in successful pregnancy. The other embryos remain vitrified. We concluded that embryo analysis using associated techniques of PCR and array CGH seems to be safe for embryo selection in cases of X-linked disorders, such as Duchenne muscular dystrophy.