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1.
Sci Rep ; 13(1): 10628, 2023 06 30.
Artículo en Inglés | MEDLINE | ID: mdl-37391520

RESUMEN

The post-surgical fluid leakage from the tubular tissues is a critical symptom after gastrointestinal or urinary tract surgeries. Elucidating the mechanism for such abnormalities is vital in surgical and medical science. The exposure of the fluid such as peritonitis due to urinary or gastrointestinal perforation has been reported to induce severe inflammation to the surrounding tissue. However, there have been no reports for the tissue responses by fluid extravasation and assessment of post-surgical and injury complication processes is therefore vital. The current model mouse study aims to investigate the effect of the urinary extravasation of the urethral injuries. Analyses on the urinary extravasation affecting both urethral mesenchyme and epithelium and the resultant spongio-fibrosis/urethral stricture were performed. The urine was injected from the lumen of urethra exposing the surrounding mesenchyme after the injury. The wound healing responses with urinary extravasation were shown as severe edematous mesenchymal lesions with the narrow urethral lumen. The epithelial cell proliferation was significantly increased in the wide layers. The mesenchymal spongio-fibrosis was induced by urethral injury with subsequent extravasation. The current report thus offers a novel research tool for surgical sciences on the urinary tract.


Asunto(s)
Líquidos Corporales , Estrechez Uretral , Animales , Ratones , Uretra , Proliferación Celular , Cicatrización de Heridas
2.
Neurourol Urodyn ; 42(4): 794-798, 2023 04.
Artículo en Inglés | MEDLINE | ID: mdl-36840745

RESUMEN

PURPOSE: Sparse published reports exist nowadays on vibegron and pediatric overactive bladder, so its usefulness of this agent remains unclear. The purpose of this study was to clarify the effectiveness of vibegron for pediatric cases of daytime urinary incontinence (DUI), including refractory cases. METHODS: Participants comprised 57 patients treated with vibegron for DUI from March 2019 to April 2022. To investigate treatment outcomes and risk factors for pediatric patients with refractory DUI, the following factors were evaluated: age at initiatial administration; frequency of DUI; duration of vibegron treatment; presence of neurodevelopmental disorders (NDDs); presence of constipation; and anticholinergic medications before and after initiation of treatment. RESULTS: Patients included 38 boys and 19 girls with a median age at initial administration of 111 months (range: 64-202 months) and a median administration term of 6 months (range: 1-33 months). With treatment for 6 months, the response rate (complete response + partial response) was 68.3%. A total of 24 cases with NDD showed a 72.0% response rate at 6 months. As for the relationship between anticholinergic agents and vibegron, 15 cases were treated with vibegron as the first choice without anticholinergics (First-choice cases), and 33 cases were treated with vibegron alone after switching from anticholinergics (Switch cases). Vibegron was used in combination with anticholinergic agents in 9 cases (Add-on cases). Response rates at 6 months were 85.0% in First-choice cases, 66.3% in Switch cases, and 40.7% in Add-on cases. Univariate analyses failed to identify any significant risk factors for refractory cases. CONCLUSIONS: Vibegron was effective in pediatric cases of DUI, with efficacy demonstrated within a short time in many cases. Vibegron is expected to play a significant role in the treatment of DUI in pediatric cases.


Asunto(s)
Enuresis Diurna , Vejiga Urinaria Hiperactiva , Masculino , Femenino , Humanos , Niño , Vejiga Urinaria Hiperactiva/tratamiento farmacológico , Pirimidinonas/uso terapéutico , Antagonistas Colinérgicos/uso terapéutico
3.
J Obstet Gynaecol Res ; 48(10): 2615-2619, 2022 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-35778981

RESUMEN

Caudal regression syndrome (CRS) is rare congenital malformation, which is characterized by abnormal development of the lower end of the spine and complicated with neurodevelopmental disorders of vesico-rectal functions and the lower extremities. We report the case of a woman with CRS who became pregnant and gave birth following continent bladder reconstruction (CBR) for intractable urinary incontinence. A 25-year-old primigravida woman with CRS became pregnant naturally and was referred to our department. She had undergone CBR in our institute at 14 years old. Emergency cesarean section (CS) was performed at 30 + 5 weeks of gestation due to severe preeclampsia. This is the first report of a woman with CRS who became pregnant and gave birth following CBR. A multidisciplinary team is needed to manage pregnant women with CRS following CBR. Collaboration with a urologist is especially important for managing pregnancy and performing CS. The CBR is performed for the purpose of improving quality of life by gaining urinary continence and may increase sexual behavior in women with CRS, and so obstetricians may encounter pregnancies more frequently in the future.


Asunto(s)
Anomalías Múltiples , Malformaciones del Sistema Nervioso , Adolescente , Adulto , Cesárea , Femenino , Humanos , Embarazo , Calidad de Vida , Vejiga Urinaria/cirugía , Procedimientos Quirúrgicos Urológicos
4.
PLoS One ; 17(2): e0263179, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35176048

RESUMEN

Surgical training using live animals such as pigs is one of the best ways of achieving skilled techniques and fostering confidence in preclinical medical students and surgeon trainees. However, due to animal welfare ethics, laboratory animals' usage for training should be kept to a minimum. We have developed a novel kidney organ model utilizing a simple procedure in which the kidney is first refluxed with N-vinyl-2-pyrrolidone (NVP) solution for 1 hour in its bath, followed by permeation for 23 hours, with a subsequent freshwater refluxed for 48 hours in the washing step. Surgical simulation of the prepared kidney model (NVP-fixed kidney) was compared with three types of other basic known simulation models (fresh kidney, freeze-thaw kidney, and FA-fixed kidney) by various evaluations. We found the NVP-fixed kidney to mimicked fresh kidney function the most, pertaining to the hardness, and strength of the renal parenchyma. Moreover, the NVP-fixed kidney demonstrated successful blood-like fluids perfusion and electrocautery. Further, we confirmed that surgical training could be performed under conditions closer to actual clinical practice. Our findings suggest that our model does not only contribute to improving surgical skills but also inspires the utilization of otherwise, discarded inedible livestock organs as models for surgical training.


Asunto(s)
Competencia Clínica , Simulación por Computador , Cirugía General/educación , Riñón/cirugía , Laparoscopía/educación , Modelos Anatómicos , Entrenamiento Simulado/métodos , Animales , Animales Recién Nacidos , Materiales Biocompatibles , Estudiantes de Medicina/estadística & datos numéricos , Porcinos , Interfaz Usuario-Computador
5.
Asian J Endosc Surg ; 15(2): 335-343, 2022 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-34994073

RESUMEN

INTRODUCTION: This study aimed to clarify the advantage of retroperitoneoscopy-assisted dismembered pyeloplasty with single-site plus one port (RPSPO) for pediatric congenital hydronephrosis in patients aged ≥7 years. METHODS: We retrospectively compared a group of patients aged ≥7 years (study group) with patients aged <7 years (comparison group), who underwent RPSPO between August 2015 and August 2018, in terms of preoperative patient characteristics, intra- and perioperative results, and postoperative results. RESULTS: The study group consisted of eight patients. The median body weight at surgery was 27 kg (20-38 kg). The median age at surgery was 102.5 m (87-139 m). The severity of hydronephrosis on the affected side graded by the Society for Fetal Urology grade was grade 3 in one case and grade 2 or less in all other cases. All patients underwent a 99m Tc-MAG3 renogram. Comparison between the two groups showed significant differences in body weight at surgery (p = 0.003), age (p < 0.001), and preoperative hydronephrosis grade (p = 0.007), but the median length of the skin incision was 20 mm in both groups, with no significant difference (p = 1.000). Redo pyeloplasty was not required in any patient in either group. CONCLUSION: RPSPO is an advantageous procedure for older children because it allows precise ureteropelvic neoanastomosis under direct vision and the same wound size as in younger children.


Asunto(s)
Hidronefrosis , Laparoscopía , Obstrucción Ureteral , Adolescente , Niño , Humanos , Hidronefrosis/congénito , Hidronefrosis/cirugía , Pelvis Renal/cirugía , Laparoscopía/métodos , Estudios Retrospectivos , Resultado del Tratamiento , Obstrucción Ureteral/complicaciones , Obstrucción Ureteral/cirugía , Procedimientos Quirúrgicos Urológicos/métodos
6.
Res Rep Urol ; 12: 517-525, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-33150142

RESUMEN

PURPOSE: To evaluate the treatment outcomes and postoperative complications associated with the systematic multi-site hydrodistention implantation technique (SMHIT) for primary vesicoureteral reflux (VUR) and to determine its mid-term efficacy and safety. PATIENTS AND METHODS: We retrospectively reviewed the data for 17 ureters from 12 consecutive children, aged ≥1 year, with grade II-IV reflux and a history of febrile urinary tract infections (FUTI), who underwent a single-session of SMHIT. The primary outcome was the absence of postoperative FUTI (clinical success). The secondary outcome was improvement in reflux to grade 0-I on postoperative voiding cystourethrography (radiographic success). RESULTS: Five and 7 children had bilateral and unilateral reflux, respectively. Reflux was categorized as grade II, III, and IV reflux in 2, 12, and 3 ureters, respectively. Seven of 10 (70%) toilet-trained children had bladder-bowel dysfunction (BBD) preoperatively. The SMHIT was performed for all patients, after which BBD improved. The mean postoperative follow-up period was 6 years and 9 months. The clinical success rate was 100%. Radiographic success was achieved in 16/17 ureters (94%) at 3-4 months, 17/17 (100%) ureters at 1 year, and 17/17 (100%) ureters at 3 years postoperatively. Major complications did not develop postoperatively. CONCLUSION: When prioritizing treatment of concomitant BBD in children with primary VUR and avoiding dextranomer/hyaluronic acid injection therapy in contraindicated children according to the Food and Drug Administration recommendations, a single-session of SMHIT may be as effective and safe in the mid-term as performing open anti-reflux surgery.

7.
Sci Rep ; 10(1): 18251, 2020 10 26.
Artículo en Inglés | MEDLINE | ID: mdl-33106510

RESUMEN

Visualization of the surgically operated tissues is vital to improve surgical model animals including mouse. Urological surgeries for urethra include series of fine manipulations to treat the increasing number of birth defects such as hypospadias. Hence visualization of the urethral status is vital. Inappropriate urethral surgical procedure often leads to the incomplete wound healing and subsequent formation of urethro-cutaneous fistula or urethral stricture. Application of indocyanine green mediated visualization of the urethra was first performed in the current study. Indocyanine green revealed the bladder but not the urethral status in mouse. Antegrade injection of contrast agent into the bladder enabled to detect the urethral status in vivo. The visualization of the leakage of contrast agent from the operated region was shown as the state of urethral fistula in the current hypospadias mouse model and urethral stricture was also revealed. A second trial for contrast agent was performed after the initial operation and a tendency of accelerated urethral stricture was observed. Thus, assessment of post-surgical conditions of urogenital tissues can be improved by the current analyses on the urethral status.


Asunto(s)
Fístula/patología , Procedimientos de Cirugía Plástica/métodos , Cirugía Asistida por Computador/métodos , Uretra/cirugía , Vejiga Urinaria/cirugía , Procedimientos Quirúrgicos Urológicos/métodos , Fuga Anastomótica , Animales , Medios de Contraste/metabolismo , Fístula/diagnóstico por imagen , Fístula/metabolismo , Fístula/cirugía , Hipospadias/diagnóstico por imagen , Hipospadias/metabolismo , Hipospadias/patología , Hipospadias/cirugía , Verde de Indocianina/metabolismo , Masculino , Ratones , Ratones Endogámicos ICR , Modelos Animales , Uretra/diagnóstico por imagen , Uretra/metabolismo , Estrechez Uretral/diagnóstico por imagen , Estrechez Uretral/metabolismo , Estrechez Uretral/patología , Estrechez Uretral/cirugía , Vejiga Urinaria/diagnóstico por imagen , Vejiga Urinaria/metabolismo
8.
BJU Int ; 125(4): 602-609, 2020 04.
Artículo en Inglés | MEDLINE | ID: mdl-31899838

RESUMEN

OBJECTIVE: To determine the long-term safety and efficacy of ureteric reimplantation with psoas bladder hitch (PBH) in patients aged <12 months with unilateral obstructive megaureter (OM). PATIENTS AND METHODS: We retrospectively compared a group of patients aged <12 months (study group) with an group of patients aged ≥12 months (comparison group), who underwent PBH for OM between September 2007 and April 2017, in terms of preoperative patient characteristics, intra- and peri-operative results, and postoperative results. RESULTS: The study group comprised seven infants, five boys and two girls. The median (range) age at the time of PBH was 3 (2-8) months; OM was detected by ultrasonography during the fetal period. The left side was affected in four infants and the right side in three. Four infants had primary OM (POM). In all three infants who had ectopic OM in the complete double renal pelvis and ureter, the OM involved the ureter from the upper half of the kidney. The median (range) follow-up period after PBH was 45 (33-129) months. Comparison of the two groups showed no significant difference in terms of surgical time (P = 0.948) and length of hospital stay (P = 0.125). In both groups, hydroureteronephrosis improved postoperatively in all patients. There was no significant difference between the two groups in terms of postoperative complications, such as vesico-ureteric reflux, febrile urinary tract infection and deterioration of ipsilateral renal function. Notably, no patient underwent reoperation in either group. CONCLUSION: Psoas bladder hitch for unilateral OM including POM appears to be safe and effective in the long term for patients aged <12 months and for those aged ≥12 months. Although not routinely recommended, PBH appears to be a viable option for selected infants with POM.


Asunto(s)
Uréter/cirugía , Obstrucción Ureteral/cirugía , Vejiga Urinaria/cirugía , Factores de Edad , Dilatación Patológica/complicaciones , Femenino , Humanos , Lactante , Masculino , Músculos Psoas , Reimplantación , Estudios Retrospectivos , Factores de Tiempo , Resultado del Tratamiento , Uréter/patología , Obstrucción Ureteral/etiología , Procedimientos Quirúrgicos Urológicos/efectos adversos , Procedimientos Quirúrgicos Urológicos/métodos
9.
J Pediatr Urol ; 15(6): 663.e1-663.e5, 2019 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-31591048

RESUMEN

BACKGROUND: A voided volume (VV) of <50% of the expected bladder capacity for age is considered small VV. It was recommended that a VV ≥50% of expected bladder capacity for age is required to assess uroflowmetry (UFM) curves because a small VV causes changes in UFM curve characteristics. However, no clear consensus has been reached on the criterion for evaluating UFM curve patterns. OBJECTIVE: The aim of the study was to evaluate the reproducibility and characteristics of UFM curve patterns in children with daytime urinary incontinence (DUI) and with a variety of VVs. METHODS: This study investigated 119 children (79 boys and 40 girls) with primary DUI who underwent UFM 3 times on the same day and were classified into two groups: small VV (<50% of expected bladder capacity for age) in 0-1 of the 3 UFM measurements (group 1; normal VV) or in 2-3 of the 3 UFM measurements (group 2; small VV). The authors then evaluated the agreement of UFM curve patterns among the 3 measurements, classifying complete, partial, or no agreement according to the number of identical curve patterns. The authors also evaluated the most characteristic patterns of UFM curve patterns for each group. RESULTS: Group 1 comprised 45 children, and group 2 comprised 74 children. Rates of complete agreement (group 1, 24/45; group 2, 30/74), partial agreement (group 1, 19/45; group 2, 35/74), and no agreement (group 1, 2/45; group 2, 9/74) did not differ significantly between groups (p = 0.226). Bell curve patterns were significantly more common in group 1 than in group 2 (p = 0.025). Frequency of the tower pattern was significantly higher in group 2 than in group 1 (p = 0.006) (Summary table). DISCUSSION: No differences in agreement rates of UFM curve patterns were seen between two groups (small and normal VV). The authors thus suggest that UFM curve patterns can be validly assessed in children with DUI and with small VV. It was found that the bell pattern was significantly more common among children with normal VV, whereas the tower pattern was significantly more common among children with small VV. The tower pattern reflects an overactive bladder. The present results suggest that some children have DUI that is not attributable to urgency. CONCLUSION: Reproducibility of UFM curve patterns might be properly assessed even in children with DUI and with small VV. This result suggests the presence of various pathological conditions other than the conditions with urgency underlying DUI.


Asunto(s)
Enuresis Diurna/fisiopatología , Reología/métodos , Vejiga Urinaria/fisiopatología , Micción/fisiología , Niño , Enuresis Diurna/diagnóstico , Enuresis Diurna/epidemiología , Femenino , Estudios de Seguimiento , Humanos , Incidencia , Japón/epidemiología , Masculino , Reproducibilidad de los Resultados , Estudios Retrospectivos
10.
Neurourol Urodyn ; 38(8): 2318-2323, 2019 11.
Artículo en Inglés | MEDLINE | ID: mdl-31432536

RESUMEN

AIM: To evaluate the uroflowmetry (UFM), which reflects the urinary symptoms of children with nocturnal enuresis (NE). METHODS: This study retrospectively investigated 93 children who underwent UFM three times on the same day (≥8 years old; mean age: 9 years and 10 months; 66 boys and 27 girls). Children with the combination of daytime incontinence (DI) and NE (DI+NE group: n = 45) and NE alone (isolated NE group: n = 48) were compared. UFM curve patterns were classified into five types: bell (B), tower (T), staccato (S), plateau (P), and interrupted (I). An unclassified (U) curve pattern was designated when all three curve patterns differed. Patterns other than the B pattern were considered abnormal (A). Each score in the dysfunctional voiding symptom score (DVSS) was also compared between the two groups. RESULTS: The UFM curve pattern was B (n = 21), T (n = 15), S (n = 4), P (n = 1), U (n = 4) in the DI+NE group and B (n = 25), T (n = 10), S (n = 7), P (n = 2), U (n = 4) in the isolated NE group, indicating no significant difference (B vs A; P = .680). The two items of DVSS questionnaire were significantly greater in the DI+NE group than in the isolated NE group (voiding postponement: 0.93 ± 1.18 vs 0.23 ± 0.56, P = .001, urgency: 2.09 ± 1.06 vs 0.56 ± 0.85, P < .001). CONCLUSION: The abnormal UFM curve patterns did not differ significantly between NE children with and without DI. However, the DVSS questionnaire scores differed significantly. UFM did not reflect the urinary symptoms of children with NE.


Asunto(s)
Síntomas del Sistema Urinario Inferior/complicaciones , Síntomas del Sistema Urinario Inferior/fisiopatología , Enuresis Nocturna/complicaciones , Enuresis Nocturna/fisiopatología , Incontinencia Urinaria/complicaciones , Niño , Preescolar , Femenino , Humanos , Masculino , Estudios Retrospectivos , Reología , Encuestas y Cuestionarios , Urodinámica
11.
Pediatr Int ; 61(10): 1007-1014, 2019 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-31298773

RESUMEN

BACKGROUND: We previously reported that the top-down approach (TDA) for infants with febrile urinary tract infections (fUTI) could prevent recurrent fUTI (r-fUTI) but produced a high number of false-positives on acute-phase 99m Tc dimercaptosuccinic acid (DMSA) renal scintigraphy. Therefore we compared the ultrasonography-oriented approach (USOA) with TDA from the viewpoint of prevention of r-fUTI. METHODS: The TDA was applied between July 2010 and February 2014 and the USOA was applied between March 2014 and April 2017 in infants with first fUTI. In the USOA group, voiding cystourethrography (VCUG) was performed in the case of abnormality on acute-phase renal bladder ultrasonography (RBUS) or on chronic- phase DMSA, which were performed in all cases. The frequency of r-fUTI was compared between the TDA group and USOA group retrospectively. RESULTS: Seventy-four infants (52 male) and 79 infants (60 male) received TDA or USOA, respectively. No significant differences were found between the TDA and USOA groups in male : female ratio, age in months at initial onset of fUTI, observation period, or number of cases of r-fUTI (TDA group, n = 4; USOA group, n = 5). Seventy-four DMSA scintigraphy and 25 VCUG were carried out in the USOA group, and 111 DMSA scintigraphy and 34 VCUG in the TDA group. CONCLUSIONS: Both USOA and TDA were valid for prevention of r-fUTI, but USOA was superior to TDA with regard to the reduced number of patients undergoing VCUG and DMSA.


Asunto(s)
Fiebre/etiología , Prevención Secundaria/métodos , Infecciones Urinarias/diagnóstico por imagen , Infecciones Urinarias/prevención & control , Reacciones Falso Positivas , Femenino , Estudios de Seguimiento , Humanos , Lactante , Masculino , Cintigrafía , Radiofármacos , Recurrencia , Estudios Retrospectivos , Ácido Dimercaptosuccínico de Tecnecio Tc 99m , Ultrasonografía , Infecciones Urinarias/complicaciones
12.
Gan To Kagaku Ryoho ; 46(Suppl 1): 142-143, 2019 May.
Artículo en Japonés | MEDLINE | ID: mdl-31189840

RESUMEN

We performed this study with the aim of clarifying the geographical features of areas of difficult-to-access foods in mountainous regions, using GIS, altitude data, and future population projections. With QGIS, we mapped altitude data, future estimates of the old age population(mesh), and retail store data, and we extracted the altitude at the mesh center point. We also draw straight lines connecting the retail stores and the mesh center point. Meshes located in areas with high altitudes had significantly more meshes not occupied by humans than meshes located in low-lyingareas (p<0.01). At least 95% of the retail shops and mesh center points were separated by more than 500 meters, and thus are considered difficult to access. The number of non-residential areas increases in mountainous regions because of the sharp gradient and the long distance to retail stores. By visualizingusingGIS, future resources can be considered more realistically.


Asunto(s)
Sistemas de Información Geográfica , Alimentos , Abastecimiento de Alimentos , Humanos , Mercadotecnía
13.
Urology ; 124: 252-253, 2019 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-30784715
14.
Urology ; 124: 248-253, 2019 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-30243672

RESUMEN

OBJECTIVE: To correct all types of glanular/subcoronal hypospadias, we performed surgery named the distal urethroplasty and glanuloplasty procedure (DUG procedure). We analyzed cases that we have experienced. METHODS: A vertical incision with the meatal margin was made in the 12 o'clock direction, with the margin of the external urethral meatus as the center. By this meatoplasty according to Heineke-Mikulicz principle, we changed all type of glanular/subcoronal hypospadias to the hypospadias with wide meatus and wide glans. And then Thiersh-Duplay procedure was performed. RESULTS: Consecutive 24 underwent modified DUG procedure. The mean age at the time of surgery was 19.0 ± 11.9 months and the mean preoperative glans width was 13 ± 1.5 mm. The external urethral meatus was located glanular in 13 and subcoronal in 11. Hypoplastic urethra (HU) was observed in 7. Skin chordee in 10, penile torsion in 6 and meatal stenosis in 10 were observed. The mean surgical duration was 106 ± 25.4 minutes and the mean postoperative observation period was 40.5 ± 26.2 months. All patients with preoperative skin chordee, penile torsion, and meatal stenosis were improved postoperatively, and in all cases, apart from the patient with meatal regression with longest HU from glanular to distal penile, the slit-like shape of the external urethral meatus was achieved. CONCLUSION: DUG procedure can be used for any type of glanular/subcoronal hypospadias but care should be taken not to indicate too aggressively for glanular/subcoronal hypospadias accompanying long HU to distal penile shaft.


Asunto(s)
Hipospadias/cirugía , Pene/cirugía , Uretra/cirugía , Preescolar , Humanos , Hipospadias/clasificación , Hipospadias/patología , Lactante , Masculino , Estudios Retrospectivos , Resultado del Tratamiento , Procedimientos Quirúrgicos Urológicos Masculinos/métodos
15.
Hum Mutat ; 39(6): 830-833, 2018 06.
Artículo en Inglés | MEDLINE | ID: mdl-29570232

RESUMEN

STX2 encodes a sulfoglycolipid transporter. Although Stx2 nullizygosity is known to cause spermatogenic failure in mice, STX2 mutations have not been identified in humans. Here, we performed STX2 mutation analysis for 131 Japanese men clinically diagnosed with nonobstructive azoospermia. As a result, we identified a homozygous frameshift mutation [c.8_12delACCGG, p.(Asp3Alafs*8)] in one patient. The mutation-positive patient exhibited loss-of-heterozygosity for 58.4 Mb genomic regions involving STX2, suggesting possible parental consanguinity. The patient showed azoospermia, relatively small testes, and a mildly elevated follicle stimulating hormone level, but no additional clinical features. Testicular histology of the patient showed universal maturation arrest and multinucleated spermatocytes, which have also been observed in mice lacking Stx2. PCR-based cDNA screening revealed wildtype STX2 expression in various tissues including the testis. Our results indicate that STX2 nullizygosity results in nonsyndromic maturation arrest with multinucleated spermatocytes, and accounts for a small fraction of cases with nonobstructive azoospermia.


Asunto(s)
Azoospermia/genética , Espermatogénesis/genética , Sintaxina 1/genética , Adulto , Animales , Azoospermia/patología , Humanos , Pérdida de Heterocigocidad/genética , Masculino , Ratones , Mutación , Testículo/crecimiento & desarrollo , Testículo/metabolismo
16.
Case Rep Urol ; 2018: 1284756, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-30687558

RESUMEN

A 9-year-old girl was diagnosed with primary alveolar soft part sarcoma of the bladder after imaging examinations and transurethral resection (TUR) of the bladder tumor. As a positive surgical margin of the TUR indicated residual tumor cells, we performed a cystourethrectomy to remove the tumor. A continent urinary reservoir for self-catheterization was constructed using the Mainz pouch technique, and an abdominal (umbilical) continent catheterizable stoma using the appendix was performed. For 2.5 years postoperatively, the patient remained free of local recurrence and distant metastasis. The patient's clinical course has been favorable, with good management of clean intermittent self-catheterization.

17.
Investig Clin Urol ; 58(Suppl 1): S46-S53, 2017 06.
Artículo en Inglés | MEDLINE | ID: mdl-28612060

RESUMEN

Vesicoureteral reflux (VUR) is one of the most common diseases in pediatric urology and classified into primary and secondary VUR. Although posterior urethral valve (PUV) is well known as a cause of the secondary VUR, it is controversial that minor urethral deformity recognized in voiding cystourethrography represents mild end of PUV spectrum and contributes to the secondary VUR. We have been studying for these ten years congenital urethral obstructive lesions with special attention to its urethrographic and endoscopic morphology as well as therapeutic response with transurethral incision. Our conclusion to date is that congenital obstructive lesion in the postero-membranous urethra is exclusively PUV (types 1 and 3) and that severity of obstruction depends on broad spectrum of morphological features recognized in PUV. Endoscopic diagnostic criteria for PUV are being consolidated.


Asunto(s)
Uretra/anomalías , Incontinencia Urinaria de Urgencia/etiología , Reflujo Vesicoureteral/etiología , Niño , Preescolar , Anomalías Congénitas/diagnóstico por imagen , Anomalías Congénitas/cirugía , Endoscopía , Humanos , Lactante , Recién Nacido , Uretra/diagnóstico por imagen , Uretra/cirugía , Urografía
18.
Pediatr Int ; 59(7): 781-785, 2017 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-28370971

RESUMEN

BACKGROUND: Acute-phase technetium-99 m dimercaptosuccinic acid (DMSA) scintigraphy is recommended for initial imaging in children with febrile urinary tract infection (fUTI). Recently, the importance of identifying patients at risk of recurrent fUTI (r-fUTI) has been emphasized. To clarify the effectiveness of DMSA scintigraphy for predicting r-fUTI in infants, we investigated the relationship between defects on DMSA scintigraphy and r-fUTI. METHODS: Seventy-nine consecutive infants (male: female, 60:19) with fUTI were enrolled in this study. DMSA scintigraphy was performed in the acute phase, and patients with defect underwent voiding cystourethrography and chronic-phase (6 months later) DMSA scintigraphy. Patients were followed on continuous antibiotic prophylaxis (CAP). RESULTS: Defects on acute-phase DMSA scintigraphy were observed in 32 children (40.5%) of 79. The mean follow-up observation period was 17.0 ± 10.1 months. Four patients had r-fUTI (5%). Two of them had defects on DMSA scintigraphy in both the acute phase and chronic phase, and had bilateral vesicoureteral reflux (VUR) grade IV. Two others had r-fUTI without defects on DMSA and did not have VUR. Twelve patients had defect on chronic-phase DMSA scintigraphy and four of them had no VUR. CONCLUSIONS: The top-down approach is a possible method for predicting r-fUTI in infants and does not miss clinically significant VUR. Also, given that the prevalence of r-fUTI was 5% regardless of the presence of defects on acute-phase DMSA, then, in conjunction with genital hygiene and CAP, acute-phase DMSA might be unnecessary if chronic-phase DMSA is performed for all patients to detect renal scar.


Asunto(s)
Cicatriz/diagnóstico por imagen , Cicatriz/etiología , Riñón/diagnóstico por imagen , Radiofármacos , Ácido Dimercaptosuccínico de Tecnecio Tc 99m , Infecciones Urinarias/diagnóstico por imagen , Cicatriz/epidemiología , Femenino , Fiebre/etiología , Estudios de Seguimiento , Humanos , Incidencia , Lactante , Riñón/patología , Masculino , Cintigrafía , Recurrencia , Medición de Riesgo , Infecciones Urinarias/complicaciones , Infecciones Urinarias/epidemiología , Infecciones Urinarias/patología
19.
Medicine (Baltimore) ; 96(15): e6499, 2017 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-28403078

RESUMEN

BACKGROUND: Renal dysplasia is the most important cause of end-stage renal disease in children. The histopathological characteristic of dysplasia is primitive tubules with fibromuscular disorganization. Renal dysplasia often includes metaplastic cartilage. Metaplastic cartilage in renal dysplasia has been explained as occurring secondary to vesicoureteral reflux (VUR). Additionally, renal dysplasia is observed in renal dysplasia-associated syndromes, which are combinations of multiple developmental malformations and include VACTERL association. CASE PRESENTATION: We observed the following multiple developmental malformations in a 108-day-old male infant during a nephrectomy: a nonfunctioning right kidney with VUR, hemidiaphragmatic eventration, a ventricular septal defect (VSD) with tetralogy of Fallot in the heart, cryptorchidism, and hyperdactylia. These developmental anomalies satisfied the diagnostic criteria for VACTERL association. A surgical specimen of the right nonfunctioning kidney revealed prominent cartilaginous metaplasia in the renal dysplasia with VUR. The densities of the ectopic cartilaginous lesions in this nonfunctioning kidney were extraordinarily high compared with other renal dysplasia cases. Giemsa banding of his genome produced normal results. The patient has not undergone further detailed genomic investigation. CONCLUSION: This case might be a novel type of VACTERL association, that is, renal dysplasia combined with prominent cartilaginous metaplasia, tetralogy of Fallot and VSD of the heart, hemidiaphragmatic eventration, and hyperdactylia.


Asunto(s)
Canal Anal/anomalías , Esófago/anomalías , Cardiopatías Congénitas/complicaciones , Enfermedades Renales/patología , Riñón/anomalías , Riñón/patología , Deformidades Congénitas de las Extremidades/complicaciones , Columna Vertebral/anomalías , Tráquea/anomalías , Canal Anal/cirugía , Cartílago/patología , Esófago/cirugía , Cardiopatías Congénitas/cirugía , Humanos , Lactante , Riñón/cirugía , Enfermedades Renales/genética , Deformidades Congénitas de las Extremidades/cirugía , Masculino , Metaplasia , Nefrectomía , Columna Vertebral/cirugía , Tráquea/cirugía
20.
World J Urol ; 35(10): 1611-1616, 2017 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-28247065

RESUMEN

PURPOSE: Endoscopic transurethral incision (TUI) of posterior urethral valve (PUV) can improve daytime urinary incontinence (DUI) and nocturnal enuresis (NE). However, the underlying mechanism has not been elucidated. In this study, we retrospectively examined the mobility of the urethra before and after TUI by measuring the urethral angle with voiding cystourethrography (VCUG), to clarify the effects of TUI on the morphology of the urethra during voiding. METHODS: Between July 2010 and December 2014, 29 boys with intractable DUI and/or NE were diagnosed as PUV and underwent endoscopic TUI. VCUG during voiding phase was performed at sequential radiographic spot images (1 image per second) at a 45° angle in oblique standing position. The point at which the angle of the urethra was the smallest during urination was regarded as the minimum urethral angle. The maximum urethral angle during early voiding phase was compared with the minimum urethral angle, and the percentage by which this angle changed was calculated as the flexion rate. Then changes in minimum urethral angle and flexion rate were analyzed before and 3-4 months after TUI. RESULTS: After TUI, the minimum urethral angle on VCUG became more obtuse (before vs. after TUI, respectively: 112.7 vs. 124.5°, p < 0.001), the flexion rate decreased (before vs. after TUI, respectively: 11.8 vs. 4.1%, p < 0.001). CONCLUSIONS: This study demonstrated a significant difference in the degree of change. The findings may contribute to understanding of the mechanism of improvement in symptoms after TUI in patients with PUV.


Asunto(s)
Enuresis Diurna/cirugía , Enuresis Nocturna/cirugía , Uretra , Derivación Urinaria , Niño , Enuresis Diurna/diagnóstico , Enuresis Diurna/etiología , Endoscopía/efectos adversos , Endoscopía/métodos , Humanos , Japón , Síntomas del Sistema Urinario Inferior/diagnóstico , Síntomas del Sistema Urinario Inferior/etiología , Masculino , Enuresis Nocturna/diagnóstico , Enuresis Nocturna/etiología , Periodo Posoperatorio , Estudios Retrospectivos , Resultado del Tratamiento , Uretra/patología , Uretra/fisiopatología , Uretra/cirugía , Derivación Urinaria/efectos adversos , Derivación Urinaria/métodos
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