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1.
J Pediatr Urol ; 19(6): 804-811, 2023 12.
Artigo em Inglês | MEDLINE | ID: mdl-37633825

RESUMO

BACKGROUND: Vesicoureteral reflux (VUR) affects 1-2% of children, predisposing them to pyelonephritis, renal scarring, and reflux nephropathy. Treatment aims to prevent febrile urinary tract infections (f-UTI) and long-term sequelae. While guidelines differ, the current consensus proposes individual risk-stratification and subsequent management strategies. Here, we systematically analyzed the current literature on Positional Instillation of Contrast Cystography (PIC) for individualized diagnostics in patients with recurrent f-UTIs. OBJECTIVE: We present a comprehensive qualitative and quantitative synthesis. Outcomes were: 1. the ability of PIC to predict VUR in patients with negative voiding cystographies (VCUG), 2. the ability of PIC to predict occult contralateral VUR, 3. the correlation of occult VUR in PIC with dimercaptosuccinic acid (DMSA) scan findings, and 4. the incidence of postoperative f-UTI in children treated for occult VUR picked up on PIC. STUDY DESIGN: We conducted a systematic review following the PRISMA guidelines, applying the following inclusion criteria: Children with occult VUR in PIC with negative VCUG. RESULTS: We included nine studies with 496 symptomatic patients with a mean age of 6.8 years, published between 2003 and 2021. PIC detected VUR in 73% of patients. Out of them, 81% had low-grade and 19% high-grade VUR. Occult contralateral VUR was present in 41% children. The presence of renal scars on DMSA scan was 1.39 times more likely with occult VUR on PIC. 85% of patients did not experience recurrent f-UTIs after PIC and subsequent treatment. DISCUSSION: PIC can detect occult VUR in patients with recurrent f-UTIs in whom VCUG is negative. However, we recommend a cautious approach in the use of PIC in clinical practice until further prospective studies confirm the validity of our outcome measures. CONCLUSION: Identification, risk stratification, and prompt action are central in managing VUR. PIC can be helpful in identifying VUR in patients with recurrent f-UTI.


Assuntos
Pielonefrite , Infecções Urinárias , Refluxo Vesicoureteral , Criança , Humanos , Lactente , Refluxo Vesicoureteral/complicações , Refluxo Vesicoureteral/diagnóstico por imagem , Cistografia/efeitos adversos , Estudos Prospectivos , Infecções Urinárias/epidemiologia , Succímero , Febre/etiologia , Estudos Retrospectivos
2.
J Pediatr Surg ; 57(11): 736-739, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-35577606

RESUMO

PURPOSE: Pyloromyotomy for pyloric stenosis is one of the more common surgical procedures performed on infants. The long-term effects of the procedure are however unclear. The purpose of this study was to study the effects into adult life, compare them with controls and to see if there is a need for structured follow up of patients. METHODS: Of the 101 patients operated for pyloric stenosis between 1972 and 1974 at our tertiary referral center 91 could be traced. They were all invited to participate in the study and were sent validated questionnaires (PAGI-SYM, GIQLI) as well as a study-specific questionnaire examining the use of antacid drugs, incidence of gastroscopy and abdominal surgery. Sixty patients responded (66%, mean age 45 years, 46 male) and were included. Thereafter, 600 age and sex-matched controls were sent the same questionnaires. 132 responded (22%, 90 male) and were includes as controls. RESULTS: No significant differences could be found in any of the examined parameters when looking at the whole material or the male patients. Female patients had higher PAGI-SYM-scores for post prandial fullness (mean 1.11 vs 0.43, P = 0.035) and heartburn (mean 0.59 vs 0.14, P = 0.043) when compared to controls. CONCLUSIONS: The present study shows that most patients operated for pyloric stenosis during infancy experience no negative effects into adulthood. The finding in the female patient group is interesting but is unlikely to have any clinical implications. The results from this study strongly implicate that there is no need for follow up of patients into adulthood. LEVEL OF EVIDENCE: Level III.


Assuntos
Estenose Pilórica Hipertrófica , Estenose Pilórica , Piloromiotomia , Adulto , Antiácidos , Feminino , Humanos , Incidência , Lactente , Masculino , Pessoa de Meia-Idade , Estenose Pilórica/etiologia , Estenose Pilórica/cirurgia , Estenose Pilórica Hipertrófica/cirurgia , Piloromiotomia/efeitos adversos , Piloromiotomia/métodos , Piloro/cirurgia , Inquéritos e Questionários
3.
Front Pediatr ; 9: 650326, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33869117

RESUMO

Vesicoureteral reflux (VUR) is associated with increased risks of urinary tract infection, renal scarring and reflux nephropathy. We review advancements over the last two decades in our understanding and management of VUR. Over time, the condition may resolve spontaneously but it can persist for many years and bladder/bowel dysfunction is often involved. Some factors that increase the likelihood of persistence (e.g., high grade) also increase the risk of renal scarring. Voiding cystourethrography (VCUG) is generally considered the definitive method for diagnosing VUR, and helpful in determining the need for treatment. However, this procedure causes distress and radiation exposure. Therefore, strategies to reduce clinicians' reliance upon VCUG (e.g., after a VUR treatment procedure) have been developed. There are several options for managing patients with VUR. Observation is suitable only for patients at low risk of renal injury. Antibiotic prophylaxis can reduce the incidence of UTIs, but drawbacks such as antibiotic resistance and incomplete adherence mean that this option is not viable for long-term use. Long-term studies of endoscopic injection have helped us understand factors influencing use and the effectiveness of this procedure. Ureteral reimplantation is still performed commonly, and robot-assisted laparoscopic methods are gaining popularity. Over the last 20 years, there has been a shift toward more conservative management of VUR with an individualized, risk-based approach. For continued treatment improvement, better identification of children at risk of renal scarring, robust evidence regarding the available interventions, and an improved VUR grading system are needed.

4.
Front Cell Dev Biol ; 8: 567, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32850778

RESUMO

Previous studies in developing Xenopus and zebrafish reported that the phosphate transporter slc20a1a is expressed in pronephric kidneys. The recent identification of SLC20A1 as a monoallelic candidate gene for cloacal exstrophy further suggests its involvement in the urinary tract and urorectal development. However, little is known of the functional role of SLC20A1 in urinary tract development. Here, we investigated this using morpholino oligonucleotide knockdown of the zebrafish ortholog slc20a1a. This caused kidney cysts and malformations of the cloaca. Moreover, in morphants we demonstrated dysfunctional voiding and hindgut opening defects mimicking imperforate anus in human cloacal exstrophy. Furthermore, we performed immunohistochemistry of an unaffected 6-week-old human embryo and detected SLC20A1 in the urinary tract and the abdominal midline, structures implicated in the pathogenesis of cloacal exstrophy. Additionally, we resequenced SLC20A1 in 690 individuals with bladder exstrophy-epispadias complex (BEEC) including 84 individuals with cloacal exstrophy. We identified two additional monoallelic de novo variants. One was identified in a case-parent trio with classic bladder exstrophy, and one additional novel de novo variant was detected in an affected mother who transmitted this variant to her affected son. To study the potential cellular impact of SLC20A1 variants, we expressed them in HEK293 cells. Here, phosphate transport was not compromised, suggesting that it is not a disease mechanism. However, there was a tendency for lower levels of cleaved caspase-3, perhaps implicating apoptosis pathways in the disease. Our results suggest SLC20A1 is involved in urinary tract and urorectal development and implicate SLC20A1 as a disease-gene for BEEC.

5.
J Pediatr Urol ; 16(3): 328.e1-328.e9, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32414615

RESUMO

BACKGROUND: Since 1993, children aged >1 year with persistent grade III-V vesicoureteral reflux (VUR) and febrile urinary tract infections (UTIs) attending Uppsala University Hospital have undergone endoscopic injection with proprietary non-animal stabilized hyaluronic acid/dextranomer gel (NASHA/Dx; Deflux®). OBJECTIVE: Investigate long-term incidence of UTI, bladder dysfunction, ureteral reimplantation and overall clinical findings following endoscopic injection of NASHA/Dx. STUDY DESIGN: Children with grade IV VUR diagnosed by voiding cystourethrogram (VCUG) and dilating VUR persisting for >1 year were included in this study. 15-25 years after endoscopic treatment, patients' hospital charts were studied. Information on bladder function and UTIs was obtained via questionnaire, 8-18 years after endoscopic treatment. RESULTS: 185 patients (69 boys, 116 girls) were included in the study; 237 grade IV VUR ureters were treated. All study patients were diagnosed with VUR after a febrile UTI (i.e. pyelonephritis). According to the last voiding cystourethrogram, 69% of ureters showed a positive response (VUR grade 0-I), 7% had VUR grade II and 23% had VUR grade ≥ III. 46 patients (25%) required ureteral reimplantation during follow-up. Among patients treated during the second 5-year period compared with the first (1998-2003 versus 1993-1998), there was a significant decrease in the rate of ureteral reimplantation (31% vs 16%; p = 0.0365). This difference may be attributable to developments over time in the injection technique. UTIs occurred in 30 patients (21% of the evaluable population): 28 females and 2 males. Febrile UTIs were reported in 14 patients (10%), all females. Forty-nine patients (34%) had bladder problems (e.g. underactivity, overactivity, incontinence). Five patients underwent ureteral reimplantation 'late', 6-10 years after the last endoscopic injection. In one male patient, calcification around the NASHA/Dx implantation site was observed during routine examination 2 years after endoscopic treatment; no intervention was required. No safety issues were observed in the remaining 97% of the study population. CONCLUSIONS: This study represents the longest published follow-up of Grade IV VUR patients undergoing endoscopic treatment. Three-quarters of patients did not need ureteral reimplantation. Optimal injection technique and higher injection volume were associated with a reduced ureteral reimplantation rate. Treatment with NASHA/Dx was durable and well tolerated: long-term risks of UTI, bladder dysfunction and recurrent VUR were low.


Assuntos
Ácido Hialurônico , Refluxo Vesicoureteral , Criança , Dextranos , Endoscopia , Feminino , Humanos , Masculino , Estudos Retrospectivos , Refluxo Vesicoureteral/cirurgia
6.
Ups J Med Sci ; 123(4): 216-224, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30293474

RESUMO

BACKGROUND: As much as 20% of all cases of hypertension are associated with kidney malfunctions. We have previously demonstrated in animals and in pediatric patients that hydronephrosis causes hypertension, which was attenuated by surgical relief of the ureteropelvic junction (UPJ) obstruction. This retrospective cohort study aimed to investigate: (1) the proposed link between hydronephrosis, due to UPJ obstruction, and elevated arterial pressure in adults; and (2) if elevated blood pressure in patients with hydronephrosis might be another indication for surgery. MATERIALS AND METHODS: Medical records of 212 patients undergoing surgical management of hydronephrosis, due to UPJ obstruction, between 2000 and 2016 were assessed. After excluding patients with confounding conditions and treatments, paired arterial pressures (i.e. before/after surgery) were compared in 49 patients (35 years old; 95% CI 29-39). Split renal function was evaluated by using mercaptoacetyltriglycine (MAG3) renography before surgical management of the hydronephrotic kidney. RESULTS: Systolic (-11 mmHg; 95% CI 6-15 mmHg), diastolic (-8 mmHg; 95% CI 4-11 mmHg), and mean arterial (-9 mmHg; 95% CI 6-12) pressures were significantly reduced after relief of the obstruction (p < 0.001). Split renal function of the hydronephrotic kidney was 39% (95% CI 37-41). No correlations were found between MAG3 and blood pressure level before surgery or between MAG3 and the reduction of blood pressure after surgical management of the UPJ obstruction. CONCLUSIONS: In adults with hydronephrosis, blood pressure was reduced following relief of the obstruction. Our findings suggest that elevated arterial pressure should be taken into account as an indication to surgically correct hydronephrosis.


Assuntos
Hidronefrose/fisiopatologia , Rim/cirurgia , Obstrução Ureteral/cirurgia , Adolescente , Adulto , Pressão Sanguínea , Determinação da Pressão Arterial , Feminino , Humanos , Hipertensão/complicações , Rim/fisiopatologia , Testes de Função Renal , Masculino , Estudos Prospectivos , Renografia por Radioisótopo , Estudos Retrospectivos , Risco , Adulto Jovem
7.
Urology ; 84(2): 462-8, 2014 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-24975706

RESUMO

OBJECTIVE: To determine the current preferred injection technique(s) for endoscopic management of pediatric vesicoureteral reflux (VUR). Since the approval of dextranomer hyaluronic acid copolymer (Dx/HA) in 2001, injection methods have evolved and now include the hydrodistention implantation technique (HIT) and double HIT as well as subureteral transurethral injection (STING) method. METHODS: In July 2012, 278 pediatric urologists in the United States were contacted to complete a 15-question survey regarding Dx/HA injection technique(s) currently used in their practice. RESULTS: Fifty board-certified pediatric urologists completed the survey for a response rate of 18%. Most respondents (60%) were in a single-specialty group practice, and 12% were affiliated with an academic- or university-based practice. Respondents reported seeing a mean of 159 pediatric patients (range, 40-400 patients) with VUR annually, and 94% used Dx/HA ≥4 times in the past year. Forty-seven respondents (94%) reported using double HIT over the course of their career compared with 36 (72%) for STING and 30 (60%) for HIT (P <.05). Double HIT gained widespread acceptance between 2007 and 2008, paralleled by a decline in use of other injection techniques. A significantly higher percentage currently perform double HIT (92%) compared with either STING (24%) or HIT (34%; P <.001). Respondents reported the use of double HIT 15 times more often than STING technique and 5 times more often than HIT during the past 12 months (P <.001). CONCLUSION: The double HIT method is currently the most commonly performed technique for endoscopic correction of VUR by pediatric urologists in the United States.


Assuntos
Cistoscopia , Dextranos/administração & dosagem , Ácido Hialurônico/administração & dosagem , Pediatria , Padrões de Prática Médica , Urologia , Refluxo Vesicoureteral/terapia , Criança , Humanos , Injeções/métodos , Injeções/tendências , Inquéritos e Questionários
8.
Eur J Pediatr Surg ; 24(4): 353-9, 2014 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-23801353

RESUMO

INTRODUCTION: Bladder exstrophy is a rare congenital malformation of the bladder and is believed to be a complex disorder with genetic and environmental background. We describe a young adult female with an isolated bladder exstrophy and with an X chromosome aberration. Patients and METHODS: Karyotyping identified an X chromosome rearrangement that was further characterized with array comparative genomic hybridization (CGH) and confirmed by multiplex ligation-dependent probe amplification and fluorescence in situ hybridization (FISH) analysis. RESULTS: The identified X chromosome rearrangement in our index patient consists of a gain of chromosomal material in region Xq26.3- > qter and loss in region Xp22.12- > pter. This aberration was also carried by her mother and sister, none with bladder exstrophy. All three have a disproportionate short stature, as expected due to the deletion of one of the copies of the SHOX gene on Xp22.3. X-inactivation studies revealed a complete skewed inactivation pattern in carriers. Crossover events in the maternal germline furthermore resulted in different genetic material on the rearranged X chromosome between the index patient and her sister. CONCLUSION: Our findings suggest an X-linked genetic risk factor for bladder exstrophy.


Assuntos
Extrofia Vesical/genética , Cromossomos Humanos X/genética , Rearranjo Gênico , Hibridização Genômica Comparativa , Feminino , Ligação Genética , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Linhagem
10.
Indian J Urol ; 25(1): 34-9, 2009 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-19468426

RESUMO

Vesicoureteral reflux (VUR) affects around 1% of all children. It carries an increased risk of febrile urinary tract infections (UTIs) and is associated with impaired renal function. Endoscopic treatment with NASHA/Dx gel (dextranomer microspheres in a stabilized hyaluronic acid-based gel of nonanimal origin) is minimally invasive, well tolerated and provides cure rates approaching those of open surgery: approximately 90% in several studies. It has also been shown to be effective in a variety of 'complicated' cases. Endoscopic treatment is therefore considered preferable to open surgery and long-term antibiotic prophylaxis. Nontreatment of VUR is being discussed as an alternative option, whereby children are treated with antibiotics only when UTIs occur. Considering all the available evidence, however, active intervention with endoscopic treatment remains preferable. A new approach to managing VUR may nevertheless be considered, with treatment decisions based not only on the grade of reflux, but also factors such as age, sex, renal scarring, and bladder dysfunction. Open surgery would be reserved for use only in the ( approximately )10% of children not responding to endoscopic treatment, and patients with refluxing primary megaureter.

11.
Ther Adv Urol ; 1(3): 131-41, 2009 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-21789061

RESUMO

Vesicoureteral reflux (VUR) affects around 1% of all children. It carries an increased risk of febrile urinary-tract infections (UTIs) and is associated with impaired renal function. Antibiotic prophylaxis is an established approach to managing the condition, but it does not protect against UTI and encourages bacterial resistance. Ureteral re-implantation (open surgery) is a relatively traumatic procedure typically requiring hospitalization, and there is a risk of significant post-treatment complications. Endoscopic treatment with NASHA/Dx gel (Deflux®) is minimally invasive, well tolerated and provides cure rates approaching those of open surgery: 80-90% in several studies. It has also been shown to be effective in a variety of 'complicated' cases. Thus, endoscopic treatment is generally preferable to open surgery and long-term antibiotic prophylaxis. Non-treatment of VUR is being discussed as an alternative option, although this mainly appears suitable for children with low-grade reflux and normal kidneys. A new approach to managing VUR may be considered, with treatment decisions based not only on the grade of reflux but also on factors such as age, sex, renal scarring and bladder dysfunction. Open surgery would be reserved only for use in the 10-15% of children not responding to endoscopic treatment and those with severe ureteral anomalies.

12.
J Urol ; 177(3): 1124-8; discussion 1128-9, 2007 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-17296428

RESUMO

PURPOSE: Endoscopic injection of stabilized nonanimal hyaluronic acid/dextranomer gel is an established treatment for vesicoureteral reflux in children. We performed a subgroup analysis to assess this treatment in reflux associated with bladder dysfunction. MATERIALS AND METHODS: Of 308 consecutive children treated endoscopically with stabilized nonanimal hyaluronic acid/dextranomer gel for dilating vesicoureteral reflux 54 were observed retrospectively to have bladder dysfunction. Initial followup consisted of voiding cystourethrogram at 3 and 12 months after injection, with positive response defined as reflux grade 0 or I. At 7 to 12 years following treatment patient charts were checked for urinary tract infections and bladder dysfunction, and a followup survey (postal questionnaire) was administered. RESULTS: A positive response to therapy (cure) was observed in 45 children (83%) after 1 to 3 endoscopic treatments. Concurrently, bladder dysfunction had resolved in 32 patients (59%). After the last stabilized nonanimal hyaluronic acid/dextranomer gel implantation 45 patients (83%) were free of urinary tract infections. Questionnaire results were similar to chart based findings. Stabilized nonanimal hyaluronic acid/dextranomer gel implantation was well tolerated, with no associated complications. CONCLUSIONS: Endoscopic treatment with stabilized nonanimal hyaluronic acid/dextranomer gel appears to be similarly effective in patients with vesicoureteral reflux with and without bladder dysfunction. These data indicate that bladder dysfunction should not be considered a contraindication to endoscopic treatment for reflux.


Assuntos
Dextranos/administração & dosagem , Endoscopia , Ácido Hialurônico/análogos & derivados , Doenças da Bexiga Urinária/complicações , Transtornos Urinários/complicações , Refluxo Vesicoureteral/complicações , Refluxo Vesicoureteral/terapia , Adolescente , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Ácido Hialurônico/administração & dosagem , Masculino , Estudos Retrospectivos , Resultado do Tratamento , Doenças da Bexiga Urinária/terapia , Transtornos Urinários/terapia
13.
J Pediatr Urol ; 3(2): 80-5, 2007 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-18947708

RESUMO

OBJECTIVE: Vesicoureteral reflux (VUR) can be treated with open surgery, antibiotic therapy or endoscopic injection. A goal in children is to reduce the incidence of febrile urinary tract infections (UTIs). The present long-term observational study investigated outcomes and experiences of endoscopic treatment with stabilized non-animal hyaluronic acid/dextranomer, NASHA/Dx. PATIENTS AND METHODS: Children treated with NASHA/Dx between 1993 and 1998 were sent a questionnaire by mail in 2005. Patients included in the study (n=231) had VUR grade III-V before treatment and grade 0-II afterwards. Patients completed 21 questions, with parental assistance if required. The questionnaire assessed clinical outcome, and the attitudes of both patients and their parents to their experiences of treatment with NASHA/Dx gel. Patients reporting UTI after treatment were contacted and their records analyzed. RESULTS: Questionnaires were completed by 179 eligible patients. Most (72%) received a single injection of NASHA/Dx gel, and all experienced febrile UTI before treatment. After treatment, 45 patients (25%) experienced UTI; 25 of these reported fever. Patient records and telephone interviews revealed no evidence of febrile UTI in 19 cases; febrile UTI was confirmed in six cases, an incidence of 3.4%. When asked about the worst aspect of VUR treatment, 9% indicated treatment with NASHA/Dx compared to 19% for medication and 72% for voiding cystourethrogram (VCUG); parent-rated responses were 19%, 24% and 57%, respectively. CONCLUSIONS: Endoscopic treatment with NASHA/Dx gel was associated with a low number of febrile UTIs following treatment, viewed positively and considered less bothersome than medication or VCUG. These findings support this treatment as a primary intervention for VUR.

14.
J Pediatr Surg ; 41(2): e25-8, 2006 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-16481234

RESUMO

Congenital pouch colon (CPC) is a rare malformation in which the distal part of a shortened colon forms a dilated pouch. It is associated with an anorectal malformation. We report 2 patients with CPC, one with a cloaca and one with vestibular fistula and vaginal atresia. It is the first description of CPC, vestibular fistula, and vaginal atresia. The purpose of this report was to demonstrate that the pouch can be split longitudinally--in analogy with Bianchi's intestinal lengthening procedure [Bianchi A. Intestinal loop lengthening: a technique for increasing small intestinal length. J Pediatr Surg 1980;15:145-51]--to create a vagina and to reconstruct the anorectum with preserved blood supply.


Assuntos
Anormalidades Múltiplas/cirurgia , Canal Anal/anormalidades , Canal Anal/cirurgia , Colo/anormalidades , Colo/transplante , Reto/anormalidades , Reto/cirurgia , Gêmeos , Vagina/anormalidades , Vagina/cirurgia , Procedimentos Cirúrgicos do Sistema Digestório/métodos , Feminino , Humanos , Recém-Nascido
15.
Hum Genet ; 119(1-2): 162-8, 2006 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-16395596

RESUMO

We report a young boy with penoscrotal hypospadias, anal atresia (AA) with a recto-urethral fistula, a hypoplastic kidney and a balanced translocation t(6;17)(p21.31;q11.2). Physical mapping of the breakpoints localized the chromosome 6 breakpoint within an intron of the gene lipoma HMGIC fusion partner-like 5 (LHFPL5) whereas the chromosome 17 breakpoint was mapped to the first intron of the 182-FIP gene encoding the Fragile X Mental Retardation Protein Interacting Protein. Sequence analysis across the breakpoints revealed an almost perfectly balanced translocation with a 2 bp deletion on the derivative chromosome 6 and a 7 bp duplication on the derivative chromosome 17. We identified a fusion transcript consisting of the first exon of 182-FIP and the last exon of LHFPL5 in patient-derived cells. Quantitative expression analysis of the genes flanking the breakpoints, revealed increased transcript levels for SFRS protein kinase 1 (SRPK1) and TAO kinase 1 (TAOK1) which suggests a positional effect due to the translocation. We hypothesize that the urogenital and anorectal malformations in the patient result from one or several mechanisms including disruption of the genes 182-FIP and LHFPL5, altered expression of the genes flanking the translocation breakpoints and, a gain of function mechanism mediated by the 182-FIP-LHFPL5 fusion transcript.


Assuntos
Canal Anal/anormalidades , Cromossomos Humanos Par 17 , Cromossomos Humanos Par 6 , Hipospadia/patologia , Reto/anormalidades , Translocação Genética/genética , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/patologia , Sequência de Bases , Criança , Quebra Cromossômica , Feminino , Perfilação da Expressão Gênica , Humanos , Masculino , Proteínas Mutantes Quiméricas/genética , RNA Mensageiro/genética , RNA Mensageiro/metabolismo , Reação em Cadeia da Polimerase Via Transcriptase Reversa
16.
J Urol ; 170(4 Pt 2): 1551-5; discussion 1555, 2003 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-14501658

RESUMO

PURPOSE: Endoscopic injection of dextranomer/hyaluronic acid (Dx/HA) copolymer is an increasingly established treatment for primary vesicoureteral reflux (VUR) in children. We performed a retrospective analysis to assess this treatment for VUR associated with either double ureters or a small kidney. MATERIALS AND METHODS: The study included 68 children with duplex ureters and 40 with a small kidney (1 kidney contributing 10% to 35% of total renal function) who underwent endoscopic treatment with Dx/HA copolymer for VUR. Followup consisted of voiding cystourethrography 3 and 12 months after injection. Positive response was defined as reflux grade 0 or I. As many as 2 repeat injections were offered to nonresponders, and those with persistent reflux were referred for open surgery. Long-term clinical followup with renal function testing was continued for 4 to 9 years. RESULTS: A positive response was observed in 63% of children with duplex ureters, with only 17 (25%) patients requiring open surgery. Among children with a small kidney the response rate was 70%, and open surgery was performed in 9 (23%). In both treatment groups a positive response to treatment was sustained throughout the followup period in all cases. The treatment was well tolerated, with no complications associated with the procedure. CONCLUSIONS: Endoscopic treatment with Dx/HA copolymer appears to be an effective and well tolerated alternative to open surgery for first line treatment of VUR associated with double ureters or a small kidney.


Assuntos
Dextranos/administração & dosagem , Ácido Hialurônico/administração & dosagem , Rim/anormalidades , Implantação de Prótese , Ureter/anormalidades , Refluxo Vesicoureteral/terapia , Administração Intravesical , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Lactente , Masculino , Estudos Retrospectivos , Resultado do Tratamento , Refluxo Vesicoureteral/congênito , Refluxo Vesicoureteral/fisiopatologia
17.
J Urol ; 169(4): 1480-4; discdussion 1484-5, 2003 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-12629396

RESUMO

PURPOSE: Vesicoureteral reflux is a risk factor for progressive renal damage associated with urinary tract infection. Mild to moderate reflux is routinely treated with long-term antibiotic prophylaxis to prevent recurrent infections and open surgical reimplantation for breakthrough infections despite antibiotic therapy. Endoscopic subureteral injection of implant material is a therapeutic alternative to long-term prophylaxis and open surgery but its widespread use in the United States has been prevented by the lack of a stable implant material. Dextranomer/hyaluronic acid copolymer has been shown to be a safe, effective and durable implant material and was recently approved in the United States. We estimate the effect on costs and cure rates of introducing endoscopic injection with dextranomer/hyaluronic acid copolymer as a treatment alternative in the United States. MATERIALS AND METHODS: We constructed a model that mimics current clinical practice of vesicoureteral reflux treatment for 6 years, and incorporates spontaneous resolution and surgical intervention rates obtained from 2 long-term followup studies. The treatment algorithm was established using medical data from the literature, and clinical management practices from a Delphi survey of 27 pediatric urologists and nephrologists across the United States. Endoscopic injection was introduced into the model as replacement to surgery or alternative to long-term antibiotic prophylaxis. The effectiveness of dextranomer/hyaluronic acid copolymer was calculated from 140 patients (208 ureters) with grade III reflux treated in a clinical study of 221 children in Sweden. RESULTS: With current practice, the average cost per patient in 6 years was 6,640 US dollars and 23.5% of patients continued to have reflux. Replacing open surgery with endoscopic injection led to similar cure rates (22.2% failures) but costs were reduced to 5,522 US dollars. When injection was performed after 1 year of antibiotic therapy failure rates were reduced to 8.5% but costs increased to 7,644 US dollars. CONCLUSIONS: Our results show that a persistent approach to endoscopic surgery can be expected to result in overall success that equals or exceeds open surgery at a lower cost. This finding is particularly true if open reimplant is reserved for patients with high grade or persistent vesicoureteral reflux.


Assuntos
Cistoscopia/economia , Dextranos/economia , Ácido Hialurônico/economia , Polímeros/economia , Refluxo Vesicoureteral/economia , Antibioticoprofilaxia/economia , Criança , Pré-Escolar , Análise Custo-Benefício , Dextranos/administração & dosagem , Feminino , Humanos , Ácido Hialurônico/administração & dosagem , Injeções/economia , Masculino , Modelos Econômicos , Polímeros/administração & dosagem , Suécia , Infecções Urinárias/economia , Infecções Urinárias/prevenção & controle , Refluxo Vesicoureteral/terapia
18.
Hum Genet ; 111(3): 231-4, 2002 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-12215834

RESUMO

Hypospadias, when the urethra opens on the ventral side of the penis, is a common malformation seen in about 3 per 1000 male births. It is considered a complex disorder with both genetic and environmental factors involved in the pathogenesis. Low birth weight is known to be an important risk factor for hypospadias, but several observations speak in favour of genetic factors as well. In order to delineate the relative contribution of the genetic factors behind hypospadias, we performed a complex segregation analysis of 2005 pedigrees in Sweden. The probands were ascertained through the departments of paediatric surgery and departments of plastic surgery and urology in Sweden where boys with hypospadias undergo surgery. In 7% of the ascertained families one or more additional cases of hypospadias were present. The complex segregation analysis showed a heritability of 0.99 and evidence for multifactorial inheritance. The results suggest that hypospadias might be due to monogenic effects in a small proportion of the families, but that there is a multifactorial cause for the majority of the cases.


Assuntos
Hipospadia/genética , Alelos , Feminino , Humanos , Hipospadia/etiologia , Funções Verossimilhança , Masculino , Linhagem , Fatores de Risco , Suécia
19.
Curr Urol Rep ; 3(2): 107-14, 2002 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-12084201

RESUMO

Vesicoureteral reflux (VUR) affects about 1% of all children and carries an increased risk of pyelonephritis and long-term renal impairment. There are several approaches to the treatment of VUR: antibiotic prophylaxis (conservative treatment), open surgery, and endoscopic treatment. For many patients, endoscopic treatment cures VUR with a single procedure, eliminating the need for long-term antibiotic treatment and avoiding the trauma of a major surgical procedure. The choice of material for endoscopic treatment is of key importance, and, until recently, all available materials were associated with concerns regarding safety and efficacy. Emerging data demonstrate that dextranomer/hyaluronic acid (Dx/HA) copolymer has good long-term safety and efficacy in treating VUR. A new treatment algorithm is, therefore, proposed, recommending that most children with persistent VUR (longer than 1 year) be offered endoscopic treatment with Dx/HA copolymer as an alternative to prolonged antibiotic prophylaxis or open surgery.


Assuntos
Algoritmos , Refluxo Vesicoureteral/terapia , Antibacterianos/uso terapêutico , Criança , Cistoscopia , Humanos , Procedimentos Cirúrgicos Urológicos
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