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1.
IJU Case Rep ; 6(6): 390-393, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37928294

RESUMO

Introduction: Ureteropelvic junction obstruction is often associated with renal calculus formation. However, there is no report of using robot-assisted laparoscopic pyeloplasty combined with percutaneous endoscopic surgery for ureteropelvic junction obstruction and renal calculi in a partial duplex system. Case presentation: A 19-year-old female patient with lower moiety ureteropelvic junction obstruction and renal calculi in a partial duplex system was referred to our hospital because of left lumbar pain, left acute pyelonephritis, and an increase in left renal calculi during follow-up at the referral hospital. To prevent the complication of percutaneous nephrolithotripsy following pyeloplasty, robot-assisted laparoscopic pyeloplasty combined with percutaneous endoscopic surgery was performed. Two years after surgery, the patient reported no left lumbar pain. Conclusion: The combination of robot-assisted laparoscopic pyeloplasty and percutaneous endoscopic surgery can be proposed as a safe and less-invasive treatment option for ureteropelvic junction obstruction and renal calculi in a partial duplex system.

2.
J Clin Endocrinol Metab ; 108(10): 2550-2560, 2023 09 18.
Artigo em Inglês | MEDLINE | ID: mdl-37010083

RESUMO

CONTEXT: We have previously reported that a specific "AGATC" haplotype in a >34 kb tight linkage disequilibrium (LD) block within ESR1 is strongly associated with cryptorchidism and hypospadias in Japanese boys. OBJECTIVE: We aimed to determine the true susceptibility factor for cryptorchidism and hypospadias linked to the "AGATC" haplotype. METHODS: We performed various molecular studies in hitherto unreported 230 Italian boys (80 with cryptorchidism and 150 with normal genitalia) and previously reported and newly recruited 415 Japanese boys (149 with cryptorchidism, 141 with hypospadias, and 125 with normal genitalia). We also performed ESR1 expression analyses using breast cancer-derived MCF-7 cells. RESULTS: Haplotype analysis revealed the LD block and positive association of the "AGATC" haplotype with cryptorchidism in Italian boys. Whole genome sequencing identified an identical 2249-bp microdeletion (ΔESR1) generated by a microhomology-mediated replication error in both Japanese and Italian boys with the specific haplotype. ΔESR1 was found to be strongly associated with cryptorchidism and hypospadias by Cochran-Armitage trend test and was revealed to show nearly absolute LD with the "AGATC" haplotype. ESR1 expression was upregulated in MCF-7 cells with a homozygous deletion encompassing ΔESR1 and those with a homozygous deletion involving a CTCF-binding site within ΔESR1. CONCLUSION: The results reveal that ΔESR1, which has been registered as "DEL_6_75504" in gnomAD SVs v2.1, is the true susceptibility factor for cryptorchidism and hypospadias. It appears that ΔESR1 was produced in a single ancestral founder of modern humans and has been maintained within the genome of multiple ethnic groups by selection.


Assuntos
Criptorquidismo , Hipospadia , Humanos , Masculino , Criptorquidismo/genética , Homozigoto , Hipospadia/genética , Íntrons , Deleção de Sequência
3.
Int J Urol ; 30(6): 521-525, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-36861413

RESUMO

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.


Assuntos
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/métodos
4.
Urol Case Rep ; 46: 102324, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36691466

RESUMO

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.

5.
Andrology ; 11(6): 1147-1156, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-36597184

RESUMO

BACKGROUND: The sperm retrieval rate of microdissection testicular sperm extraction varies from 25% to 60%. Therefore, it is necessary to establish objective selection criteria for identifying seminiferous tubules with spermatozoa. OBJECTIVES: Our aim was to develop a method for identifying spermatogenesis without sectioning testicular tissues. MATERIALS AND METHODS: Testicular tissues of 10-week-old normal rats were fixed with 4% paraformaldehyde. Fluorescent labeling of seminiferous tubule nuclei and F-actin was performed, and the specimens were observed without sectioning using a multiphoton microscope. Cryptorchid rats were used as a model lacking elongated spermatids. Multiphoton images were compared with images of normal seminiferous tubules. In addition, seminiferous tubules of 10-week-old normal rats were labeled by testicular interstitial injection of fluorescent probes and observed by a multiphoton microscope without fixation. Terminal deoxynucleotidyl transferase dUTP nick end labeling-stained images of normal and probe-injected testes were compared. RESULTS: In fixed seminiferous tubules, elongated spermatids were identified. In addition, F-actin of apical ectoplasmic specialization was observed around elongated spermatids. Furthermore, spermatogenic stages were identified by an array of nuclei or F-actin. In cryptorchid testes, elongated spermatids and F-actin of the apical ectoplasmic specialization were not observed. In testes injected with fluorescent probes, F-actin of the apical ectoplasmic specialization was observed, and spermatogenic stages were identified without fixation. There was no significant difference in the number of terminal deoxynucleotidyl transferase dUTP nick end labeling-positive cells per seminiferous tubule between normal and probe-injected testes. CONCLUSIONS: Seminiferous epithelium could be observed without sectioning of tissues by fluorescent probes and a multiphoton microscope. Active spermatogenesis was observed by labeling F-actin with and without fixation. Moreover, the toxicity of fluorescent probes was limited. Our method has a potential for live imaging of testicular tissue.


Assuntos
Actinas , DNA Nucleotidilexotransferase , Masculino , Ratos , Animais , Corantes Fluorescentes , Sêmen , Espermatogênese , Testículo , Espermátides , Túbulos Seminíferos
6.
Urol Case Rep ; 46: 102295, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36478962

RESUMO

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.

7.
IJU Case Rep ; 5(5): 327-329, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-36090926

RESUMO

Introduction: Primary obstructed non-refluxing megaureter, a type of congenitally dilated ureter, often resolves spontaneously. Surgery may be indicated in symptomatic cases; however, there are no reports of transvesicoscopic ureteral implantation and ureteroscopy for ureteral stones. Therefore, we describe the treatment of primary obstructed non-refluxing megaureter and ureteral calculi using this technique. Case presentation: A 6-year-old Japanese girl was referred for abdominal pain and gross hematuria due to right megaureter with multiple stones in the renal lower-pole calyces and ureter. She was diagnosed with primary obstructed non-refluxing megaureter and ureterovesical junction obstruction. The stones were removed using mini-percutaneous nephrolithotomy and transvesicoureteroscopic surgery, respectively. A narrow segment of the right ureter was cut, and transvesicoscopic ureteral plication and reimplantation were performed. The procedures were successful without postoperative complications. Conclusion: Transvesicoscopic ureteral reimplantation with ureteroscopy may be a safe, effective and minimally invasive surgical option for ureterovesical junction obstruction with ureteral stones.

8.
IJU Case Rep ; 5(5): 354-357, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-36090939

RESUMO

Introduction: Crossed fused renal ectopia is rare and usually asymptomatic. However, it is associated with urological anomalies. Case presentation: A 15-year-old Japanese boy was transported to our hospital with right abdominal pain and hematuria after a soccer ball hit his right abdomen. Computed tomography revealed right hydronephrosis beyond the center of the body and no left kidney. Percutaneous nephrostomy was performed immediately, and a pyeloplasty was scheduled for 5 months later. Right hydronephrosis was noted to have been caused by left pelvic expansion due to a crossed fused ectopic kidney (secondary to a left pelviureteric junction obstruction). Subsequently, a left dismembered pyeloplasty was performed. Twenty-four months later, pain and hematuria were absent, and the creatinine level was 1.1 mg/dL. Ultrasonography revealed a shrunken right kidney. Conclusion: We encountered a unique urological anomaly with crossed fused renal ectopia. Comprehensive anatomical evaluation before surgery is important for maintaining long-term renal function.

9.
J Psychopharmacol ; 36(9): 1087-1094, 2022 09.
Artigo em Inglês | MEDLINE | ID: mdl-35861221

RESUMO

BACKGROUND: Although clozapine-induced granulocytopenia (CIG) is less severe than clozapine-induced agranulocytosis (CIA), and some patients with CIG may not go on to develop serious complications, clozapine is discontinued in cases of both CIA and CIG. Understanding the pathogenic mechanisms of CIA/CIG could provide better management of clozapine therapy. Recently, as a mechanistic insight into adaptive immune systems, European groups reported clozapine-specific proliferative responses and clozapine-specific T cells using blood taken from patients with CIA and/or CIG. AIMS: The aims of our study are to support this mechanistic evidence and to investigate the difference in the lymphocyte response to clozapine between patients with CIG and those with CIA. METHODS: Lymphocyte stimulation tests (LSTs) were conducted using CD25-positive cell-depleted peripheral blood-derived mononuclear cells (PBMCs) isolated from blood of four Japanese patients with CIA, four patients with CIG, and nine clozapine-tolerant subjects. RESULTS: Three of four patients with CIA and one of four patients with CIG showed proliferative responses to clozapine with a stimulation index of greater than 2. In contrast, none of the nine clozapine-tolerant subjects showed any response to clozapine. Olanzapine did not stimulate PBMCs of patients with CIA, patients with CIG, or clozapine-tolerant subjects. CONCLUSIONS: Clozapine- and CIA-specific lymphocyte reactions in a Japanese population provided supportive evidence that the pathogenesis of CIA is based on adaptive immune reactions. In addition, patients with CIG who show a positive response to an LST may at the very least not be chosen for clozapine-rechallenge and further prospective studies are desirable to verify this hypothesis.


Assuntos
Agranulocitose , Antipsicóticos , Clozapina , Agranulocitose/induzido quimicamente , Antipsicóticos/efeitos adversos , Clozapina/efeitos adversos , Humanos , Japão , Olanzapina/efeitos adversos , Estudos Prospectivos
10.
IJU Case Rep ; 5(2): 132-135, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-35252800

RESUMO

INTRODUCTION: The reimplantation of an ectopic ureter is still performed as an open surgery, although laparoscopic or robot-assisted laparoscopic surgery has gained popularity as a minimally invasive treatment for pediatric urological disorders. CASE PRESENTATION: A 15-day-old Japanese boy was referred to our hospital with right hydronephrosis. A detailed examination revealed complete ureteral duplication on the right side and a dilated ectopic upper pole ureter, opening into the prostatic urethra. Since the patient had recurrent febrile urinary tract infections, we performed plication and ureteral reimplantation of the dilated ectopic ureter using a transvesicoscopic surgical method at the age of 2 years and 5 months. CONCLUSION: We safely performed transvesicoscopic ureteral reimplantation for an ectopic upper pole ureter with a mate ureter in a duplex kidney, following the detection of an ectopic ureter within the bladder, due to the prior understanding of the wrapping of both ureters in a common sheath.

11.
Neuropsychopharmacol Rep ; 42(2): 183-190, 2022 06.
Artigo em Inglês | MEDLINE | ID: mdl-35234369

RESUMO

AIM: Supporting patients upon discharge following prolonged hospitalization in private psychiatric hospitals in Japan have long been an issue. This study evaluated the efficacy of clozapine in treating long-stay patients with treatment-resistant schizophrenia to reduce the frequency and duration of readmissions postdischarge. METHODS: We retrospectively examined the length and frequency of hospitalizations of long-stay and non-long-stay patients with schizophrenia who were introduced to clozapine at our hospital. RESULTS: Comparing participants' medical records 2 years before and after the introduction of clozapine, we identified a significant decrease in both length and frequency of hospitalizations in all patients who were introduced to clozapine. In long-stay patients, the length and frequency of hospitalization were significantly reduced. However, compared to non-long-stay patients, the period from introduction of clozapine to discharge was longer and the dose of clozapine was higher. Thus, it is necessary to take time to evaluate the therapeutic effects for long-stay patients. CONCLUSION: The results showed that clozapine is helpful for patients with treatment-resistant schizophrenia, who are considered difficult to treat and discharge in Japan.


Assuntos
Antipsicóticos , Clozapina , Esquizofrenia , Assistência ao Convalescente , Antipsicóticos/uso terapêutico , Clozapina/uso terapêutico , Humanos , Tempo de Internação , Alta do Paciente , Estudos Retrospectivos , Esquizofrenia/tratamento farmacológico , Esquizofrenia Resistente ao Tratamento
13.
Urology ; 164: 244-247, 2022 06.
Artigo em Inglês | MEDLINE | ID: mdl-35026190

RESUMO

An ectopic ureter is a significant urinary tract malformation often treated during early childhood and is surgically managed based on its condition. Generally, only extravesical ureteral reimplantation is available as a treatment option for an ectopic ureter with well-preserved renal function. This report describes a case of a 28-months-old girl with an ectopic ureter in a single system who experienced repeated febrile urinary tract infections, successfully treated using a transvesicoscopic ureteral reimplantation as a minimally invasive treatment. To the best of our knowledge, this is the first report of transvesicoscopic ureteral reimplantation for an ectopic ureter in a single system.


Assuntos
Ureter , Obstrução Ureteral , Refluxo Vesicoureteral , Pré-Escolar , Feminino , Humanos , Reimplante/métodos , Estudos Retrospectivos , Resultado do Tratamento , Ureter/anormalidades , Ureter/cirurgia , Obstrução Ureteral/cirurgia , Procedimentos Cirúrgicos Urológicos/métodos , Refluxo Vesicoureteral/cirurgia
14.
Urol Case Rep ; 40: 101886, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34712583

RESUMO

Posterior urethral valves (PUVs) are the most common cause of congenital urethral obstruction. However, the diagnosis of a PUV is sometimes difficult. A 13-year-old Japanese boy and his mother visited our hospital, and his mother complained that he frequently strained to void although he had no complaint. Uroflowmetry revealed a plateau-shaped curve and a voiding cystourethrography (VCUG) revealed a PUV. Thus, we performed a transurethral incision of the PUV, and his voiding status improved. Because some patients with mild PUV may not notice their dysuria, we believe that VCUG should be performed without hesitation when a urethral lesion is suspected.

15.
J Urol ; 207(3): 701-709, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-34823367

RESUMO

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.


Assuntos
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 , Orquidopexia
16.
BMC Urol ; 21(1): 70, 2021 Apr 24.
Artigo em Inglês | MEDLINE | ID: mdl-33894751

RESUMO

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.


Assuntos
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 Jovem
17.
J Med Case Rep ; 15(1): 86, 2021 Feb 18.
Artigo em Inglês | MEDLINE | ID: mdl-33602290

RESUMO

BACKGROUND: Myelomeningocele, which causes a neurogenic bladder, is usually treated with anticholinergics in children with neurogenic detrusor overactivity (NDO); however, anticholinergics cause side effects such as dry mouth, constipation, attention deficit, and inadequate reduction in detrusor leak point pressure. Vibegron, a novel selective beta-3 adrenoreceptor agonist, is a well-established alternative to anticholinergics in adults with an overactive bladder. It remains unknown whether this agent can be used for pediatric patients. We report the case of a girl with anticholinergic-resistant NDO due to tethered cord syndrome after myelomeningocele repair, who was treated with vibegron. CASE PRESENTATION: A 4-year-old Filipino girl had increased frequency of daytime urinary incontinence and foul-smelling urine since the age of 3. Clinical examination revealed constipation, and urinalysis revealed bacteriuria. Voiding cystourethrography revealed an enlarged and trabeculated bladder without vesicoureteral reflux. On the urodynamic study (UDS), she was found to have detrusor overactivity (DO) and low bladder compliance. She could not void and was diagnosed with overflow incontinence. Clean intermittent catheterization (CIC) and orally administered propiverine (0.8 mg/kg/day) were initiated, and urinary incontinence was resolved. She underwent a UDS annually; the UDS at 6 years of age still revealed DO and low bladder compliance in spite of receiving propiverine. The treatment was switched from propiverine to vibegron (1.4 mg/kg/day). On the UDS after a 5-week treatment schedule of vibegron, the DO disappeared and the bladder compliance improved. CIC and orally administered vibegron have been continued for 7 months so far, and she has had no urinary tract infection with no drug-related adverse events. CONCLUSIONS: Vibegron was effective and well tolerated in the treatment of a pediatric patient with NDO. Vibegron improved the urodynamic parameters for anticholinergic-resistant neurogenic bladder. This agent can be a beneficial and preferable alternative therapeutic agent to anticholinergics in patients with anticholinergic-resistant NDO.


Assuntos
Bexiga Urinária Hiperativa , Urodinâmica , Adulto , Criança , Pré-Escolar , Antagonistas Colinérgicos , Feminino , Humanos , Pirimidinonas , Pirrolidinas , Resultado do Tratamento , Bexiga Urinária Hiperativa/tratamento farmacológico
18.
J Med Case Rep ; 14(1): 233, 2020 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-33256838

RESUMO

BACKGROUND: Transverse testicular ectopia (TTE) is a rare anomaly in which both testes descend through a single inguinal canal into the same hemiscrotum. Although almost 20-50% of patients with TTE exhibit persistent Müllerian duct syndrome (PMDS) and many genetic analyses have been performed, no reports have described the genes contributing to TTE without PMDS. Here, we report two cases of TTE without PMDS using immunohistochemical staining and genetic analysis. CASE PRESENTATION: Two Asian patients with TTE without PMDS were subjected to orchiopexy. We performed testicular biopsies during operation and obtained blood samples before the operation. Testicular tissues were stained for c-kit, placental alkaline phosphatase (PLAP), and undifferentiated embryonic cell transcription factor 1 (UTF1) to evaluate the presence of intratubular malignant germ cells. Additionally, we performed polymerase chain reaction-based direct sequencing to identify single nucleotide polymorphisms in genes associated with regression of the Müllerian duct and testicular descent (that is, anti-Müllerian hormone [AMH], AMH receptor 2 [AMHR2], insulin-like 3 [INSL3], and relaxin family peptide receptor 2 [RXFP2]). The three-dimensional structures of proteins were predicted using SWISS-MODEL. In immunohistochemical analysis, c-kit and UTF1 were positive, whereas PLAP was negative in three testicular tissue samples from the two patients. These features were also detected on the unaffected side. In variant analysis, common missense variants in the AMH gene (g.365G>T; c.165G>T; p.Ser49Ile [rs10407022]) were observed. All variants in INSL3 and RXFP2 genes were intronic or silent. CONCLUSIONS: Because UTF1, a specific marker of spermatogonial stem cell activity, was expressed in both the affected and unaffected sides in the testicular tissues of two patients, the risk of malignancy may be high in these patients. Although the etiology of TTE without PMDS remains unclear, our variant analysis results were consistent with previous reports, and variants in the AMH gene (rs10407022) may contribute to the specific phenotype of TTE without PMDS.


Assuntos
Transtorno 46,XY do Desenvolvimento Sexual , Transtorno 46,XY do Desenvolvimento Sexual/genética , Transtorno 46,XY do Desenvolvimento Sexual/cirurgia , Humanos , Masculino , Ductos Paramesonéfricos/cirurgia , Orquidopexia , Testículo
19.
BMC Urol ; 20(1): 178, 2020 Nov 03.
Artigo em Inglês | MEDLINE | ID: mdl-33143721

RESUMO

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.


Assuntos
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 Jovem
20.
Mod Rheumatol Case Rep ; 4(1): 70-73, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-33086971

RESUMO

Clozapine is the most effective antipsychotic medication for refractory schizophrenia, but it has many possible serious side effects, including antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV). However, the rare case reports available have not presented sufficient characteristic features of drug-induced AAV. Herein, we report a case of a 48-year-old Japanese woman with schizophrenia who presented with fever, arthralgia, myalgia and skin rash after 2 years of clozapine treatment. Her C-reactive protein (CRP) level increased, myeloperoxidase ANCA was positive and skin biopsy revealed leukocytoclastic vasculitis. Initially, steroid administration achieved remission, but her symptoms and high CRP levels relapsed every time the steroid dosage was tapered down. Upon discontinuation of clozapine, her symptoms and elevated CRP level immediately improved and the steroid was successfully tapered and discontinued. This outcome suggested that clozapine was the main cause of AAV.


Assuntos
Vasculite Associada a Anticorpo Anticitoplasma de Neutrófilos/diagnóstico , Vasculite Associada a Anticorpo Anticitoplasma de Neutrófilos/etiologia , Anticorpos Anticitoplasma de Neutrófilos/imunologia , Antipsicóticos/efeitos adversos , Clozapina/efeitos adversos , Vasculite Associada a Anticorpo Anticitoplasma de Neutrófilos/terapia , Biomarcadores , Biópsia , Feminino , Humanos , Pessoa de Meia-Idade , Esteroides/administração & dosagem , Avaliação de Sintomas , Resultado do Tratamento
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