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The cooperation of multiple catalytic components is a powerful tool for intermolecular bond formation, specifically, cross-coupling reactions. Supported metal catalysts have interfacial sites between metal nanoparticles and their supports where multiple catalytic elements can work in cooperation to efficiently promote intermolecular reactions. Hence, the establishment of novel guidelines for designing active interfacial sites of supported metal catalysts is indispensable for heterogeneous catalysts which enable efficient cross-coupling reactions. In this article, we performed kinetic and theoretical studies to elucidate the effect of metal-support cooperation for the borylation of C-O bonds by supported gold catalysts and revealed that the Lewis acid density of the supports determined the number of active sites at which metal nanoparticles (NPs) and Lewis acid at the surface of the supports work in cooperation. Furthermore, DFT calculations revealed that strong adsorption of diborons at the interface between Au NPs and supports and a decrease in the LUMO level of adsorbed diboron were responsible for efficient C-O bond borylation. Supported Au catalysts with the optimized metal-metal oxide cooperation sites, namely, Au/α-Fe2O3 catalyst, showed excellent activity for C-O bond borylation, and also enabled the synthesis of organoboron compounds by using continuous-flow reactions. Furthermore, Au/α-Fe2O3 showed high activity for direct C-N bond borylation without the transformation of amino groups to ammonium cations. The results described herein suggest that the optimization of metal-metal oxide cooperation is beneficial for taking full advantage of the potential performance of supported metal catalysts for intermolecular reactions.
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The hydrogenolysis of oxygenates such as alcohols and ethers is central to the biomass valorization and also a valuable transformation in organic synthesis. However, a mild and efficient catalyst system for the hydrogenolysis of a large variety of alcohols and ethers with various functional groups is still underdeveloped. Here, we report an aluminum metaphosphate-supported Pt nanoparticles (Pt/Al(PO3)3) for the hydrogenolysis of a wide variety of primary, secondary, and tertiary alkyl and benzylic alcohols, and dialkyl, aryl alkyl, and diaryl ethers, including biomass-derived furanic compounds, under mild conditions (0.1-1â atm of H2, as low as 70 °C). Mechanistic studies suggested that H2 induces formation of the surface Brønsted acid sites via its cleavage by supported Pt nanoparticles. Accordingly, the high efficiency and the wide applicability of the catalyst system are attributed to the activation and cleavage of C-O bonds by the hydrogen-induced Brønsted acid sites with the assistance of Lewis acidic Al sites on the catalyst surface. The high efficiency of the catalyst implies its potential application in energy-efficient biomass valorization or fine chemical synthesis.
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Since C(sp3)-O bonds are a ubiquitous chemical motif in both natural and artificial organic molecules, the universal transformation of C(sp3)-O bonds will be a key technology for achieving carbon neutrality. We report herein that gold nanoparticles supported on amphoteric metal oxides, namely, ZrO2, efficiently generated alkyl radicals via homolysis of unactivated C(sp3)-O bonds, which consequently promoted C(sp3)-Si bond formation to give diverse organosilicon compounds. A wide array of esters and ethers, which are either commercially available or easily synthesized from alcohols participated in the heterogeneous gold-catalyzed silylation by disilanes to give diverse alkyl-, allyl-, benzyl-, and allenyl silanes in high yields. In addition, this novel reaction technology for C(sp3)-O bond transformation could be applied to the upcycling of polyesters, i.e., the degradation of polyesters and the synthesis of organosilanes were realized concurrently by the unique catalysis of supported gold nanoparticles. Mechanistic studies corroborated the notion that the generation of alkyl radicals is involved in C(sp3)-Si coupling and the cooperation of gold and an acid-base pair on ZrO2 is responsible for the homolysis of stable C(sp3)-O bonds. The high reusability and air tolerance of the heterogeneous gold catalysts as well as a simple, scalable, and green reaction system enabled the practical synthesis of diverse organosilicon compounds.
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OBJECTIVES: The 2021 European Association of Urology-European Society for Paediatric Urology guidelines on Pediatric Urology recommended testis-sparing surgery (TSS) as the primary approach to treat prepubertal testicular tumors exhibiting favorable preoperative ultrasound diagnoses. However, prepubertal testicular tumors are rare and clinical data regarding them is limited. Here, we analyzed the surgical management of prepubertal testicular tumors based on cases observed over approximately 30 years. METHODS: Data were retrospectively reviewed from medical records of consecutive patients aged <14 years with testicular tumors who received treatment at our institution between 1987 and 2020. We compared patients by their clinical characteristics, namely, those who underwent TSS versus radical orchiectomy (RO) and those who received surgery in 2005 onward versus prior to 2005. RESULTS: We identified 17 patients, with a median age at surgery of 3.2 years (range 0.6-14.0) and a median tumor size of 15 mm (range 6-67). The tumor size was significantly smaller in patients who underwent TSS than in those who underwent RO (p = 0.007). Patients treated in 2005 onward were more likely to undergo TSS than those treated prior to 2005 (71% vs. 10%, respectively), without significant differences in tumor size or the rate of preoperative ultrasound. No TSS cases required conversion to RO. CONCLUSIONS: Recent improvements in ultrasound imaging technology allow for more accurate clinical diagnosis. Therefore, the indications of TSS for prepubertal testicular tumors can be judged based not only on the tumor size but also on the diagnosis of benign tumors by preoperative ultrasound.
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Neoplasias Testiculares , Criança , Masculino , Humanos , Lactente , Pré-Escolar , Adolescente , Estudos Retrospectivos , Neoplasias Testiculares/diagnóstico por imagem , Neoplasias Testiculares/cirurgia , Testículo/diagnóstico por imagem , Testículo/cirurgia , Testículo/patologia , Orquiectomia/métodos , Tratamentos com Preservação do Órgão/métodosRESUMO
PURPOSE: In cryptorchidism, germ cell development failure presents from infancy and may be reflected by altered hormonal levels produced by Sertoli cells. Our object was to assess for associations between serum hormone levels and testicular histopathology in cryptorchidism with an infertility risk according to the pretreatment undescended testicular positions. MATERIALS AND METHODS: Prepubertal cryptorchid boys aged 7-91 (median 20) months who underwent orchidopexy between 2014 and 2019 were included (122 unilateral [median 19 months {range 7-91}], 23 bilateral [24 months {11-81}]). We evaluated the pretreatment testicular position and size; serum hormone levels; and the mean number of germ cells per tubule transverse section (G/T). We also performed a subgroup analysis of boys aged ≤24 months at orchidopexy. RESULTS: Serum inhibin B levels and G/T were significantly lower in bilateral than in unilateral cryptorchid boys (median 96 [range 46-197] pg/ml vs 125 [21-354] pg/ml, p=0.026; 0.20 [0-2.59] vs 0.65 [0-4.55], p <0.001, respectively). Inhibin B/follicle-stimulating hormones (FSH) and anti-Müllerian hormone (AMH)/FSH ratios were positively correlated with G/T in bilateral cryptorchid boys aged ≤24 months (12, p=0.008 and p=0.019, respectively). Low inhibin B/FSH and AMH/FSH ratios and high FSH were predictors of impaired G/T as per receiver operating characteristic curves (p=0.019, p=0.004 and p=0.004, respectively), whereas in unilateral cryptorchid boys aged ≤24 months, serum hormone levels and G/T did not differ with the pretreatment testicular positions. CONCLUSIONS: In bilateral cryptorchid boys aged ≤24 months at orchidopexy, low inhibin B/FSH and AMH/FSH ratios may reflect impaired G/T and future infertility risk.
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Biomarcadores/sangue , Criptorquidismo/metabolismo , Células Germinativas/citologia , Hormônio Antimülleriano/sangue , Criança , Pré-Escolar , Criptorquidismo/patologia , Criptorquidismo/cirurgia , Hormônio Foliculoestimulante/sangue , Humanos , Lactente , Inibinas/sangue , Masculino , OrquidopexiaRESUMO
BACKGROUND: To investigate the efficacy and safety of endoscopic injection therapy for vesicoureteral reflux in post-pubertal patients with dilated ureteral orifice via modified hydrodistension implantation techniques. METHODS: We retrospectively reviewed medical records including operational procedure and clinical course of all consecutive patients over 12 years old with a history of injection therapy. Endoscopic injection of dextranomer/hyaluronic acid copolymer was performed under hydrodistension implantation technique with some modifications in order to inject through dilated ureteral orifice align with the intramural ureter. Technical selections were done according to hydrodistension grade of the ureteral orifice. Voiding cystourethrography was evaluated at 3 months postoperatively. Hydronephrosis was evaluated using ultrasonography preoperatively until 6 months postoperatively. RESULTS: From 2016 to 2019, 12 patients (all female, 16 ureteral units; median age 32 [range 15-61] years) underwent endoscopic injection therapy at one of our institutions. We have identified grade II vesicoureteral reflux in 5 ureters, grade III in 8, and grade IV in 3 ureters. Grade 3 ureteral-orifice dilation were presented in 12 ureters (75%), grade 2 in 3 and grade 1 in 1 ureter in the present cases. Postoperatively, vesicoureteral reflux was diminished to grade 0 in 12 ureteral units (75%), decreased to grade I in 3 (9%), and remained grade III in 1 (6%). Three patients reported dull flank pain for several days postoperatively and there was 1 case of acute pyelonephritis. Temporary hydronephrosis was confirmed in 3 ureteral units (19%) at 1 month postoperatively. Median follow-up duration was 23 (range 13-63) months long. Although, 3 patients were experienced f-UTI 1-2 times, repeated VCUG showed no VUR recurrence. CONCLUSIONS: According to hydrodistension grade of the ureteral orifice, endoscopic injection therapy via modified hydrodistension implantation technique is an effective and safe treatment for vesicoureteral reflux in post-pubertal female patients with dilated ureteral orifice. While ureteral deformities or a history of anti-reflux surgery may increase the risks, these can be managed with appropriate methods that ensure sufficient mound appearance and height.
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Dextranos/administração & dosagem , Ácido Hialurônico/administração & dosagem , Ureter/anormalidades , Refluxo Vesicoureteral/terapia , Adolescente , Adulto , Cistoscopia , Feminino , Humanos , Injeções Intralesionais/métodos , Pessoa de Meia-Idade , Puberdade , Estudos Retrospectivos , Resultado do Tratamento , Refluxo Vesicoureteral/complicações , Adulto JovemRESUMO
BACKGROUND: Most cases of antenatal the Society of Fetal Urology (SFU) grade 1or 2 hydronephrosis (HN) improve or resolve spontaneously with conservative treatment. However, there is no consensus on the duration of follow-up for cases of grade 1or 2 HN. The aim of this study was to determine the need for continuous follow-up period and new management of children with antenatal grade 1or 2 HN. METHODS: Subjects underwent ultrasonographic assessment for HN according to the SFU classification. We retrospectively evaluated 112 patients with postnatal grade 1 HN and 69 with grade 2 HN using abdominal ultrasonography between January 2010 and December 2017. We examined the change in HN grade on repeat ultrasonography. Kaplan-Meier method was used to show the effect of HN grade on the rate of HN changes. RESULTS: The mean follow-up duration was 44.9 ± 36.4 months (range 12-274). Initial SFU grade 1 HN disappeared in 47.0% of cases at 12 months, 66.4% at 24 months and 73.2% at 48 months. Initial SFU grade 2 HN showed improvement in grade in 74.7% of cases at 12 months, 88.3% at 24 months and 89.5% at 48 months. However, 14.6% of SFU grade 1 and 2.8% of SFU grade 2 cases increased in grade and of the 17 cases, 16 cases worsened within the first 6 months. No cases with increased grade required pyeloplasty. Initial disappearance and later reappearance of HN occurred in 40.5% of SFU grade 1 and 2 cases. The mean duration of later reappearance of HN was 39.1 ± 36.2 months (range 12-137). No cases showed reappearance of HN after more than 1 year. CONCLUSIONS: Ultrasonography within the first 6 months was necessary for management of children with antenatal grade 1or 2 HN, because some patients showed worsening. After that, it is considered safe to spread the follow-up interval for stable cases. Most cases of grade 1or 2 HN resolved spontaneously, however a few cases reappeared within 1 year. Therefore, ultrasonography after 1 year was necessary in children with HN that spontaneously disappeared. The appropriate time to end the follow-up was considered to have been after 1 year or more has passed since the disappearance was confirmed.
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Hidronefrose/diagnóstico por imagem , Ultrassonografia Pré-Natal , Abdome/diagnóstico por imagem , Adolescente , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Masculino , Gravidez , Estudos Retrospectivos , Índice de Gravidade de Doença , Fatores de Tempo , Adulto JovemRESUMO
PURPOSE: We evaluated the association of hypospadias and 17 susceptibility loci previously identified by a European genome-wide association study in a cohort of Japanese patients. We also examined the expression of candidate genes in male mouse embryos to determine the possible underlying mechanisms of this disease. MATERIALS AND METHODS: We enrolled 169 Japanese patients (mean age at surgery 3.7 years) who underwent repair of hypospadias. Genotyping of 17 single nucleotide polymorphisms was performed using a multiplex polymerase chain reaction invader assay. We also performed in situ hybridization to determine whether candidate genes were expressed in the male genital tubercle during embryonic development of the external genitalia in mice. RESULTS: Single nucleotide polymorphism rs3816183 of HAAO was significantly associated with susceptibility to hypospadias in general (p = 0.0019) and to anterior/middle hypospadias (p = 0.0283) and posterior hypospadias (p = 0.0226), while single nucleotide polymorphism rs6499755 of IRX6 showed an association with susceptibility to anterior/middle hypospadias (p = 0.0472). In mouse embryos there was no significant upregulation of Haao expression in the developing male external genitalia. Irx3 and Irx5, which are linked to Irx6 within the IrxB cluster, were expressed in the mesenchyme remote from the urethral plate epithelium during the critical embryonic period for masculinization. Irx6 was expressed in the ectodermal epithelium, demonstrating prominent dorsal ectodermal expression without expression in the ventral ectoderm adjacent to the urethral plate during the same period. CONCLUSIONS: Genetic variations of HAAO and IRX6 influence susceptibility to hypospadias in the Japanese population. Further research is needed to clarify the mechanism by which variations in these genes contribute to the pathogenesis of hypospadias.
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3-Hidroxiantranilato 3,4-Dioxigenase/genética , Regulação da Expressão Gênica no Desenvolvimento , Proteínas de Homeodomínio/genética , Proteínas de Homeodomínio/metabolismo , Hipospadia/genética , Fatores de Transcrição/genética , Fatores de Transcrição/metabolismo , 3-Hidroxiantranilato 3,4-Dioxigenase/metabolismo , Adolescente , Animais , Povo Asiático/genética , Criança , Pré-Escolar , Ectoderma/metabolismo , Embrião de Mamíferos , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Humanos , Lactente , Recém-Nascido , Japão , Masculino , Camundongos , Camundongos Endogâmicos ICR , Organogênese/genética , Polimorfismo de Nucleotídeo Único , Fatores de Risco , Uretra/crescimento & desenvolvimentoRESUMO
BACKGROUND: Robot-assisted radical prostatectomy (RARP) is commonly performed using the transperitoneal (TP) approach with six trocars over an 8-cm distance in the steep Trendelenburg position. In this study, we investigated the feasibility and the benefit of using the extraperitoneal (EP) approach with six trocars over a 4-cm distance in a flat or 5° Trendelenburg position. We also introduced four new steps to the surgical procedure and compared the surgical results and complications between the EP and TP approach using propensity score matching. METHODS: Between August 2012 and August 2016, 200 consecutive patients without any physical restrictions underwent RARP with the EP approach in a less than 5° Trendelenburg position, and 428 consecutive patients underwent RARP with the TP approach in a steep Trendelenburg position. Four new steps to RARP using the EP approach were developed: 1) arranging six trocars; 2) creating the EP space using laparoscopic forceps; 3) holding the separated prostate in the EP space outside the robotic view; and 4) preventing a postoperative inguinal hernia. Clinicopathological results and complications were compared between the EP and TP approaches using propensity score matching. Propensity scores were calculated for each patient using multivariate logistic regression based on the preoperative covariates. RESULTS: All 200 patients safely underwent RARP using the EP approach. The mean volume of estimated blood loss and duration of indwelling urethral catheter use were significantly lower with the EP approach than the TP approach (139.9 vs 184.9 mL, p = 0.03 and 5.6 vs 7.7 days, p < 0.01, respectively). No significant differences in the positive surgical margin were observed. None of the patients developed an inguinal hernia postoperatively after we introduced this technique. CONCLUSIONS: The EP approach to RARP was safely performed regardless of patient physique or contraindications to a steep Trendelenburg position. Our method, which involved using the EP approach to perform RARP, can decrease the amount of perioperative blood loss, the duration of indwelling urethral catheter use, and the incidence of postoperative inguinal hernia development.
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Prostatectomia/métodos , Procedimentos Cirúrgicos Robóticos/métodos , Idoso , Idoso de 80 Anos ou mais , Contraindicações de Procedimentos , Estudos de Viabilidade , Decúbito Inclinado com Rebaixamento da Cabeça/efeitos adversos , Hérnia Inguinal/etiologia , Humanos , Japão , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias , Pontuação de Propensão , Prostatectomia/efeitos adversos , Prostatectomia/instrumentação , Neoplasias da Próstata , Estudos Retrospectivos , Procedimentos Cirúrgicos Robóticos/efeitos adversosRESUMO
BACKGROUND: Congenital anomalies of the kidney and urinary tract (CAKUT), such as renal dysplasia, hydronephrosis, or vesicoureteral reflux, are the most common causes of end-stage renal disease. However, the genetic etiology of CAKUT remains unclear. In this study, we performed whole exome sequencing (WES) to elucidate the genetic etiology of symptomatic CAKUT and CAKUT accompanied by cryptorchidism. METHODS: Three patients with unilateral renal dysplasia accompanied by ipsilateral cryptorchidism were included in this analysis. Genomic DNA was extracted from peripheral blood, and WES was performed. Disease-specific single nucleotide polymorphisms (SNPs) were determined by comparison with the human genome reference sequence (hg19). Additionally, we searched for SNPs that were common to all three patients, with a particular focus on the coding regions of the target genes. RESULTS: In total, 8710 SNPs were detected. Of the genes harboring these SNPs, 32 associated with renal or testicular development were selected for further analyses. Of these, eight genes (i.e., SMAD4, ITGA8, GRIP1, FREM1, FREM2, TNXB, BMP8B, and SALL1) carried a single amino acid substitution that was common to all three patients. In particular, SNPs in SMAD4 (His290Pro and His291Pro) have not been reported previously in patients with symptomatic CAKUT. Of the candidate genes, four genes (i.e., ITGA8, GRIP1, FREM1, and FREM2) were Fraser syndrome-related genes, encoding proteins that functionally converged on the glial cell-derived neurotrophic factor/RET/bone morphogenic protein (BMP) signaling pathways. As another candidate gene, the protein encoded by BMP8B activates the nuclear translocation of SMAD4, which regulates the expression of genes associated with the differentiation of primordial germ cells or testicular development. Additionally, BMP4, a member of the BMP family, regulates the interaction between metanephric mesenchyme and ureteric buds by suppressing GDNF. CONCLUSIONS: Taken together, our findings suggested that the development of the kidney and urinary tract is intimately linked with that of male reproductive organs via BMP/SMAD signaling pathways.
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Proteínas Morfogenéticas Ósseas/genética , Criptorquidismo/genética , Rim/anormalidades , Proteínas Smad/genética , Sistema Urinário/anormalidades , Adulto , Pré-Escolar , Criptorquidismo/diagnóstico por imagem , Humanos , Lactente , Masculino , Polimorfismo de Nucleotídeo Único/genética , Transdução de Sinais/genéticaRESUMO
Hemiscrotal agenesis is among the rarest anomalies in scrotal development disorders. As it has only been reported in three cases, the clinical manifestations remain unclear. We report a case of hemiscrotal agenesis with ipsilateral cryptorchidism. Based on the thermal assessment of the scrotum, concurrent scrotoplasty and orchiopexy were carried out, and the scrotoplasty improved the thermal environment of the fixed left testis. Furthermore, the low expression of androgen receptor and steroid-5-alpha-reductase, alpha polypeptide 2 in the affected side of the scrotum likely resulted in the characteristics of absent scrotal rugae, and pigmentation on histological and biological analyses. For future fertility, we believe that scrotoplasty should be considered as a management option for hemiscrotal agenesis.
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PURPOSE: Gonocytes differentiate into spermatogonial stem cells, which make it possible to maintain spermatogenesis continuously throughout life. We previously reported attenuated spermatogonial stem cell activity in cryptorchid testes, which resulted in altered spermatogenesis and affected fertility. However, few groups have examined the differentiation process from gonocytes to spermatogonial stem cells. To clarify the underlying mechanisms comprehensively we performed microarray analysis to assess differential expression of transcripts between normal and undescended testes in juvenile rats. MATERIALS AND METHODS: Using microarray analysis we compared whole mRNA expression of normal and cryptorchid testes in a rat model. We subsequently validated differential expression of candidate genes by real-time reverse transcriptase-polymerase chain reaction and performed immunohistochemistry. We also investigated the methylation status of histone H3K4 in cryptorchid testes and the GC-1 spermatogonial cell line. RESULTS: We detected 24 up-regulated and 39 down-regulated genes. Of these genes Kdm5a expression was significantly higher in undescended testes. Immunohistochemistry showed that Kdm5a was localized in the nuclei of gonocytes, spermatogonia and spermatocytes. H3K4me2/me3 expression levels were decreased in undescended testes at 9 days postpartum. Furthermore, Kdm5a over expression in GC-1 cells led to increased expression of Esr2, Neurog3, Pou5f1, Ret and Thy1. CONCLUSIONS: Recent investigations revealed that not only genetic but also epigenetic regulation has a role in spermatogenesis. Kdm5a is likely involved in the transformation of gonocytes into spermatogonial stem cells by transcriptional regulation of specific genes via H3K4 histone modification. To our knowledge this is the first report of epigenetic analysis of germ cell differentiation during early spermatogenesis.
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Diferenciação Celular/genética , Epigênese Genética/fisiologia , Espermatogênese/genética , Células-Tronco/citologia , Testículo/citologia , Animais , Criptorquidismo , Histonas , Imuno-Histoquímica , Masculino , Ratos , Reação em Cadeia da Polimerase em Tempo Real , Proteína 2 de Ligação ao Retinoblastoma , Células-Tronco/fisiologia , Testículo/fisiologia , Análise Serial de Tecidos , Transcrição Gênica , Regulação para Cima/fisiologiaRESUMO
PURPOSE: We elucidated the mechanism of spermatogonial stem cell disturbance of cryptorchidism and investigated the expression of miRNAs and their target genes in undescended testes. MATERIALS AND METHODS: Using microarray analysis we compared total miRNA expression in unilateral undescended testes with that in contralateral descended and normal testes in a rat model of cryptorchidism. The model was derived by administering flutamide to pregnant Sprague Dawley® rats. We identified mRNA targets of miRNAs by bioinformatic analysis, followed by in situ hybridization and immunohistochemistry to localize candidate miRNAs and mRNAs, respectively. We also investigated whether miRNAs could inhibit target protein expression in vitro. RESULTS: Microarray analysis and subsequent quantitative reverse transcriptase-polymerase chain reaction showed that only miR-135a was expressed at a lower level in undescended testes. We identified its target as FoxO1, which is essential for stem cell maintenance. miR-135a and FoxO1 localized to spermatogonial stem cells. FoxO1 localized to the spermatogonial stem cell nucleus less frequently in undescended testes, indicating that the activity of FoxO1, which acts as a transcription factor, is altered in undescended testes. Finally, miR-135a transfection into spermatogonia in vitro resulted in down-regulation of FoxO1 expression. CONCLUSIONS: In cryptorchid testes there is a decreased number of spermatogonial stem cells in which FoxO1 is activated, indicating that failure of spermatogonial stem cell maintenance results in spermatogenesis alteration. We also noted interaction between miR-135a and FoxO1, and propose that miR-135a contributes to spermatogonial stem cell maintenance through modulation of FoxO1 activity.
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Criptorquidismo/genética , Criptorquidismo/metabolismo , Fatores de Transcrição Forkhead/fisiologia , Regulação da Expressão Gênica , MicroRNAs/biossíntese , Proteínas do Tecido Nervoso/fisiologia , Espermatogônias/citologia , Células-Tronco , Animais , Masculino , Ratos , Ratos Sprague-DawleyRESUMO
PURPOSE: Although several genes, including the SRY gene, are involved in testicular differentiation, the entire mechanism of this differentiation remains unclear. We performed genome wide analysis in patients with 46,XX testicular disorders of sex development to comprehensively elucidate the mechanisms of testicular differentiation. MATERIALS AND METHODS: Whole genomic DNA was extracted from the peripheral blood of 4 patients with 46,XX testicular disorders of sex development who were SRY negative. Genomic DNA was hybridized to a GeneChip® human mapping 250K array set. Compared to normal female data, we detected common loss of heterozygosity and copy number variation regions in 4 patients using Genotyping Console™ software. RESULTS: Loss of heterozygosity was detected in 19 regions of 11 chromosomes. A total of 27 genes or nearby genomic areas were included in the applicable regions. Copy number loss was recognized in 13 regions of 10 chromosomes, and these regions included 55 genes. Copy number gain was detected in 6 regions of 4 chromosomes, which included the upstream region of the SOX3 gene. CONCLUSIONS: The regions with loss of heterozygosity did not contain genes associated with testicular differentiation. However, the upstream area of the SOX3 gene, which is located in Xq27.1, was included in the region of copy number gain. These results suggest that high expression of the SOX3 gene led to testicular differentiation despite SRY gene loss. As this applicable area is not within a coding region, genome wide analyses were valuable for detecting the novel regions associated with testicular differentiation.
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DNA/análise , Transtornos do Desenvolvimento Sexual/genética , Estudo de Associação Genômica Ampla , Genômica , HumanosRESUMO
OBJECTIVES: To report our initial experience with robot-assisted laparoscopic extravesical ureteral reimplantation using the ureteral advancement technique. METHODS: A total of 15 ureters from nine patients (age range 2-25 years) underwent robot-assisted laparoscopic extravesical ureteral reimplantation for the management of vesicoureteral reflux. The reflux was classified as grade I in one ureter, grade II in two ureters, grade III in seven ureters, grade IV in three ureters and grade V in two ureters. One of the five female patients had a bilateral duplex system, and reflux was observed in all four ureters. The da Vinci surgical system was utilized. Ureteral advancement was carried out in all cases. We also compared the operative outcomes between conventional laparoscopic procedure and robotic surgery. RESULTS: The console time was 211.5 ± 87.4 min (median ± standard deviation) in the bilateral cases and 144.0 ± 40.8 min in the unilateral cases. Urethral catheters were removed at one or two postoperative days. None of the patients suffered postoperative complications, such as urine leakage or urinary retention. Postoperative voiding cystourethrography showed that the reflux had been resolved in 14 of the 15 ureters (success rate 93.3%). In the remaining case, the reflux grade decreased from III to I. The operative outcomes of robotic surgery were favorable and safe compared with conventional laparoscopic procedure. CONCLUSIONS: Our preliminary results showed that robot-assisted laparoscopic surgery is a feasible and useful approach to extravesical ureteral reimplantation, even for patients with bilateral reflux.
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Laparoscopia/métodos , Reimplante/métodos , Procedimentos Cirúrgicos Robóticos , Ureter/cirurgia , Refluxo Vesicoureteral/cirurgia , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Japão , Masculino , Duração da Cirurgia , Reimplante/efeitos adversos , Índice de Gravidade de Doença , Resultado do Tratamento , Adulto JovemRESUMO
Introduction: Hemiscrotal agenesis is a rare scrotal developmental disorder. Orchiopexy on the opposite side of the scrotum with rugae or scrotoplasty combined with orchiopexy is usually performed as a surgical treatment for hemiscrotal agenesis with cryptorchidism. Till date, there are only eight published case studies of hemiscrotal agenesis. Case presentation: A 6-year-old boy, who had been previously treated for infantile hemangiomas, was referred by a pediatrician to our hospital for the follow-up of hemiscrotal agenesis without cryptorchidism. Thermography demonstrated that the temperature of the right scrotal skin with no rugae was higher than that of the left scrotal skin with rugae. The patient's parent declined scrotoplasty because the hemiscrotal agenesis was to be followed up without scrotoplasty and scrotal ultrasonography revealed no abnormal findings in both testes. Conclusion: High-temperature environment may not impair the testicular growth in prepubertal hemiscrotal agenesis without cryptorchidism.
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Urgent scrotal exploration is performed for segmental testicular infarction (STI) because malignant testicular tumors cannot be ruled out even when STI is suspected on color Doppler ultrasound (US). This report describes the case of a 14-year-old boy who was successfully diagnosed with STI associated with epididymitis using color Doppler US to avoid radical orchiectomy. To our knowledge, this is the first report of STI being diagnosed during puberty and managed using color Doppler US and contrast-enhanced magnetic resonance imaging-guided conservative treatment.
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Ureterocele prolapse, an unusual but distinctive finding, may cause voiding difficulty. A 6-year-old male patient was referred to our hospital after his mother discovered that he tapped his lower abdomen when his urinary stream was interrupted during voiding. Voiding cystourethrography indicated a ureterocele prolapse causing the intermittency of voiding; therefore, transvesicoscopic ureteral reimplantation with ureterocelectomy was performed and the voiding consequently improved. However, this condition would not have been diagnosed had the unusual voiding behavior gone unnoticed. Therefore, diagnosing congenital bladder obstructions could be challenging if a patient adapts to a voiding difficulty.