Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 27
Filtrar
Mais filtros

Base de dados
País/Região como assunto
Tipo de documento
País de afiliação
Intervalo de ano de publicação
1.
Acta Paediatr ; 113(7): 1703-1710, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38415505

RESUMO

AIM: To investigate underlying factors for previously reported shortcomings in child health centres' (CHC) referral process of boys with undescended testicles. METHODS: A total of 386 physicians working at Swedish CHCs were surveyed regarding their knowledge about undescended testicles and their clinical management. Multivariate regression analyses were performed to identify risk factors of non-adherence to guidelines and self-reported lack of clinical skills. RESULTS: The overall knowledge of the health benefits of undescended testicle surgery was high (89%), while two-thirds were unaware of surgery being recommended <1 year of age. One-fifth of respondents had never received guidance on examination techniques. Male gender (adjusted odds ratio [aOR] 0.51, 95% confidence interval [95% CI] 0.31-0.86), education in paediatrics (aOR 0.37, 95% CI 0.18-0.76) and more experience (aOR 0.02, 95% CI 0.01-0.09) significantly decreased the risk of unfamiliarity with examinations. More experience decreased the risk of stating the incorrect indications for undescended testicle surgery (aOR 0.17, 95% CI 0.03-0.95) and finding examinations difficult (aOR 0.22, 95% CI 0.07-0.72). Medical education outside Nordic countries was a risk factor for unawareness of guidelines (aOR 2.06, 95% CI 1.21-3.51). CONCLUSION: The knowledge and confidence level of the study population varied widely. The results indicate a need for further theoretical and practical education among Swedish CHC physicians.


Assuntos
Competência Clínica , Criptorquidismo , Humanos , Criptorquidismo/cirurgia , Masculino , Suécia , Fidelidade a Diretrizes/estatística & dados numéricos , Conhecimentos, Atitudes e Prática em Saúde , Médicos/psicologia , Feminino , Padrões de Prática Médica/estatística & dados numéricos , Inquéritos e Questionários , Serviços de Saúde da Criança , Adulto
2.
Pediatr Surg Int ; 40(1): 139, 2024 May 28.
Artigo em Inglês | MEDLINE | ID: mdl-38806810

RESUMO

PURPOSE: This study aimed to investigate the rate of re-ascent requiring re-operation after primary orchidopexy and to investigate eventual differences between the inguinal and scrotal approach as well as other potential predictors for re-ascent. METHODS: A retrospective cohort study of children treated for undescended testis (UDT) with orchidopexy between 2018 and 2022 was conducted. The primary outcome was re-ascent requiring re-operation, and the secondary outcome was atrophy rate. Independent variables were age, underlying conditions, side, surgical approach, operation time, bilaterality, congenital/ascended UDT, presence of scrotal hypoplasia, presence of a patent processus vaginalis, division of external oblique, and suture of the testis. Univariate and logistic regression were used to evaluate differences between groups and risk for re-ascent. RESULTS: A total of 662 testes in 554 patients were included. Re-operation occurred in 6% (7% with inguinal approach, 3% with scrotal approach, p = 0.04). Re-operation was associated with younger age, congenital UDT, and inguinal approach, but neither of these variables remained significant in multivariate analyses. Atrophy occurred in one testis. CONCLUSION: The rate of re-ascent was 6% and the atrophy rate was 0.15%. A larger study may find predictors for re-ascent but with very low absolute risk. The lower rate of re-ascent with the scrotal approach is probably due to selection bias.


Assuntos
Criptorquidismo , Orquidopexia , Reoperação , Humanos , Masculino , Criptorquidismo/cirurgia , Orquidopexia/métodos , Estudos Retrospectivos , Reoperação/estatística & dados numéricos , Lactente , Pré-Escolar , Criança , Testículo/cirurgia , Testículo/anormalidades , Resultado do Tratamento , Escroto/cirurgia
3.
Am J Med Genet A ; 191(2): 378-390, 2023 02.
Artigo em Inglês | MEDLINE | ID: mdl-36349425

RESUMO

Bladder exstrophy is a rare congenital malformation leaving the urinary bladder open in the midline of the abdomen at birth. There is a clear genetic background with chromosome aberrations, but so far, no consistent findings apart from 22q11-duplications detected in about 2%-3% of all patients. Some genes are implicated like the LZTR1, ISL1, CELSR3, and the WNT3 genes, but most are not explained molecularly. We have performed chromosomal microarray analysis on a cohort of 140 persons born with bladder exstrophy to look for submicroscopic chromosomal deletions and duplications. Pathogenic or possibly pathogenic microdeletions or duplications were found in 16 patients (11.4%) and further 9 with unknown significance. Two findings were in regions linked to known syndromes, two findings involved the same gene (MCC), and all other findings were unique. A closer analysis suggests a few gene networks that are involved in the pathogenesis of bladder exstrophy; the WNT-signaling pathway, the chromosome 22q11 region, the RIT2 and POU families, and involvement of the Golgi apparatus. Bladder exstrophy is a rare malformation and is reported to be associated with several chromosome aberrations. Our data suggest involvement of some specific molecular pathways.


Assuntos
Extrofia Vesical , Humanos , Recém-Nascido , Extrofia Vesical/genética , Aberrações Cromossômicas , Cromossomos , Variações do Número de Cópias de DNA/genética , Bexiga Urinária/anormalidades
4.
Pediatr Surg Int ; 39(1): 270, 2023 Sep 08.
Artigo em Inglês | MEDLINE | ID: mdl-37682361

RESUMO

PURPOSE: Pelvoureteric junction obstruction (UPJO) is a common cause of hydronephrosis in children but no previous studies have evaluated differences between boys and girls operated with pyeloplasty. This study aimed to evaluate potential differences between sexes in children operated with pyeloplasty for PUJO in terms of presentation, surgery, and long-term results. METHODS: Data was retrospectively collected from all children operated on with pyeloplasty between January 2002 and December 2020. Data contained several variables covering presentation, surgery, and long-term results. RESULTS: In total, 194 patients were included of which 126 (64.9%) were boys. There were no significant differences in prenatal findings, pelvic dilation on ultrasound, function of the affected kidney, surgical method, obstruction type, resolution of hydronephrosis, or improvement of function. Boys presented with pain more often than girls (47.4 vs 25.0%, p < 0.01) while girls were more prone to infections preoperatively (17.2 vs 7.0%, p = 0.04). All nine patients requiring reoperation were boys (p = 0.03). CONCLUSION: Girls with UPJO seem to experience infections as presenting symptoms more often than boys, while boys significantly more often present with pain. There is also a higher percentage of boys needing reoperation.


Assuntos
Hidronefrose , Caracteres Sexuais , Humanos , Criança , Feminino , Masculino , Gravidez , Estudos Retrospectivos , Rim , Hidronefrose/cirurgia , Dor
5.
Pediatr Surg Int ; 35(11): 1301-1308, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31372729

RESUMO

PURPOSE: To compare the two major complications, namely postoperative urethrocutaneous fistula and urethral stricture, between the Mathieu and tubularized incised plate (TIP) repair methods for distal hypospadias. METHODS: In this meta-analysis, electronic databases were searched for comparative studies on the two techniques. The Oxford Centre for Evidence-based Medicine Levels of Evidence was used to evaluate the included studies. The main outcome measure was the frequency of postoperative fistula and urethral stricture. RevMan 5.3 was used for statistical analyses, with P < 0.05 indicating statistical significance. RESULTS: A total of 17 studies, which included 1572 patients, met the inclusion criteria. The frequency of urethrocutaneous fistula did not differ between the Mathieu [115 (13%)] and TIP [90 (13%)] methods [odds ratio (OR) 1.1, 95% confidence intervals (CI) 0.6-1.9; P = 0.73)]. Urethral stricture was less frequent after the Mathieu [15 (2%)] method than after the TIP [37 (5%)] method (OR 0.5, 95% CI 0.3-0.8; P < 0.01), even after the subgroup analysis of eight randomized controlled trials was included. Overall, the quality of the included studies was determined to be satisfactory. The levels of evidence on which this review was based ranged from 1b to 2b using the CEBM Levels of Evidence. CONCLUSION: Compared with TIP repair, Mathieu repair for hypospadias had a significantly lower risk for urethral stricture; however, the risk for urethrocutaneous fistula was similar.


Assuntos
Fístula Cutânea/etiologia , Hipospadia/cirurgia , Estreitamento Uretral/etiologia , Fístula Urinária/etiologia , Procedimentos Cirúrgicos Urológicos Masculinos/efeitos adversos , Humanos , Masculino , Complicações Pós-Operatórias , Procedimentos Cirúrgicos Urológicos Masculinos/métodos
6.
Minim Invasive Ther Allied Technol ; 28(5): 309-316, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-30663462

RESUMO

Background: The benefit of haptic feedback in laparoscopic virtual reality simulators (VRS) is ambiguous. A previous study found 32% faster acquisition of skills with the combination of 3 D and haptic feedback compared to 2 D only. This study aimed to validate perception and effect on performance of haptic feedback by experienced surgeons in the previously tested VRS. Material and methods: A randomized single blinded cross-over study with laparoscopists (>100 laparoscopic procedures) was conducted in a VRS with 3 D imaging. One group started with haptic feedback, and the other group without. After performing the suturing task with haptics either enabled or disabled, the groups crossed over to the opposite setting. Face validity was assessed through questionnaires. Metrics were obtained from the VRS. Results: The haptics for 'handling the needle', 'needle through tissue' and 'tying the knot' was scored as completely realistic by 3/22, 1/22 and 2/22 respectively. Comparing the metrics for maximum stretch damage between the groups revealed a significantly lower score when a group performed with haptics enabled p = .027 (haptic first group) and p < .001(haptic last group). Conclusion: Haptic feedback in VRS has limited fidelity according to the tested laparoscopic surgeons. In spite of this, significantly less stretch damage was caused with haptics enabled.


Assuntos
Instrução por Computador/métodos , Laparoscopia/educação , Laparoscopia/métodos , Cirurgiões/educação , Técnicas de Sutura/educação , Realidade Virtual , Adulto , Estudos Cross-Over , Retroalimentação , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Distribuição Aleatória
7.
Pediatr Surg Int ; 33(2): 191-195, 2017 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-27844168

RESUMO

AIM OF THE STUDY: Anastomotic strictures commonly occur in patients undergoing surgery for esophageal atresia (EA). The primary aim of this study was to determine the age distribution of dilation procedures for anastomotic strictures over the patient's childhood after reconstruction of EA. The secondary aim was to evaluate the effect of postoperative proton pump inhibitors (PPIs) on the frequency of dilations. METHODS: This observational study was conducted at a single tertiary center of pediatric surgery. The times that dilations of strictures were performed were assessed during three study periods: 1983-1995, 2001-2009, and 2010-2014. PPIs were not used during the first period, and then, respectively, for 3 and 12 months postoperatively. The indications for dilation were signs of obstruction and/or radiological signs of stricture. PRIMARY RESULTS: A total of 131 children underwent esophageal reconstruction, and of those, 60 (46%) required at least 1 dilation procedure for strictures. There were no differences in the frequencies of dilation procedures between the three study periods (28/66, 18/32 and 14/33, respectively; P = 0.42). The overall median number of dilations per patient was 3 (range 1-21) with no differences between the study periods. The differences between ages at which the first dilation was performed during each study period were significant, as follows: 7, 2, and 8 months, respectively (P = 0.03). Fiftyone percent of all dilation procedures were performed during the first year of life, 16% during the second year, and 33% during years 2-15. Four children (2%) underwent >12 dilations. CONCLUSION: The first year of life was the time of greatest need for dilation of AS after reconstruction of EA; however, dilations were also performed several years later. PPIs did not affect the frequency of dilations during the first year of life.


Assuntos
Anastomose Cirúrgica , Dilatação/métodos , Atresia Esofágica/cirurgia , Estenose Esofágica/terapia , Complicações Pós-Operatórias/terapia , Adolescente , Distribuição por Idade , Fatores Etários , Criança , Pré-Escolar , Constrição Patológica/complicações , Constrição Patológica/prevenção & controle , Constrição Patológica/terapia , Atresia Esofágica/complicações , Estenose Esofágica/complicações , Estenose Esofágica/prevenção & controle , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Complicações Pós-Operatórias/prevenção & controle , Inibidores da Bomba de Prótons/uso terapêutico , Resultado do Tratamento
8.
Minim Invasive Ther Allied Technol ; 26(5): 269-277, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28367667

RESUMO

BACKGROUND: The study investigated whether 3D vision and haptic feedback in combination in a virtual reality environment leads to more efficient learning of laparoscopic skills in novices. MATERIAL AND METHODS: Twenty novices were allocated to two groups. All completed a training course in the LapSim® virtual reality trainer consisting of four tasks: 'instrument navigation', 'grasping', 'fine dissection' and 'suturing'. The study group performed with haptic feedback and 3D vision and the control group without. Before and after the LapSim® course, the participants' metrics were recorded when tying a laparoscopic knot in the 2D video box trainer Simball® Box. RESULTS: The study group completed the training course in 146 (100-291) minutes compared to 215 (175-489) minutes in the control group (p = .002). The number of attempts to reach proficiency was significantly lower. The study group had significantly faster learning of skills in three out of four individual tasks; instrument navigation, grasping and suturing. Using the Simball® Box, no difference in laparoscopic knot tying after the LapSim® course was noted when comparing the groups. CONCLUSIONS: Laparoscopic training in virtual reality with 3D vision and haptic feedback made training more time efficient and did not negatively affect later video box-performance in 2D. [Formula: see text].


Assuntos
Feedback Formativo , Laparoscopia/educação , Realidade Virtual , Adulto , Competência Clínica , Simulação por Computador , Educação de Graduação em Medicina , Feminino , Humanos , Imageamento Tridimensional , Masculino , Método Simples-Cego , Fatores de Tempo , Adulto Jovem
9.
Pediatr Surg Int ; 32(6): 599-607, 2016 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-26833312

RESUMO

BACKGROUND: A few studies have compared robotic-assisted laparoscopic pyeloplasty (RALP) with open pyeloplasty (OP) in children, but no previous study includes a long-term follow-up of renal function and hydronephrosis in combination with a thorough prospective follow-up of the RALP patients of at least 2 years. OBJECTIVE: To analyze perioperative results and long-term outcome of children with obstruction of the ureteropelvic junction, operated on with RALP compared to OP. PATIENTS AND METHODS: Children ≤15 years operated on with RALP or OP from 2000 through 2013 were reviewed. Patient demographics, perioperative data, postoperative complications, and long-term outcome were evaluated. The outcome was based on pre- and postoperative examination of renal function, hydronephrosis and flank pain. RESULTS: 129 pyeloplasties (84 OP, 39 RALP, 6 reoperations) on 123 patients were included. RALP had significantly longer operative time and shorter postoperative hospital stay, compared to OP. No difference was found in postoperative need of morphine or complication rates. Mean follow-up for RALP with ultrasound was 29 and 25 months with renal scan, compared to 34 and 28 months, respectively, for OP. The success rate for flank pain was 96 and 94 %, for hydronephrosis 93 and 95 %, and renal function 94 and 92 %, for RALP and OP, respectively. CONCLUSIONS: RALP is a safe method, with advantages compared to OP, and with the same success rate. This study supports the use of RALP in children.


Assuntos
Laparoscopia/métodos , Laparotomia/métodos , Procedimentos de Cirurgia Plástica/métodos , Robótica/métodos , Ureter/cirurgia , Obstrução Ureteral/cirurgia , Procedimentos Cirúrgicos Urológicos/métodos , Criança , Feminino , Seguimentos , Humanos , Masculino , Duração da Cirurgia , Estudos Retrospectivos , Fatores de Tempo , Resultado do Tratamento , Ultrassonografia , Obstrução Ureteral/diagnóstico
11.
Surg Open Sci ; 11: 56-61, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36545373

RESUMO

Background: The technical skills of a surgeon influence surgical outcome. Testing technical aptitude at point of recruitment of surgical residents is only conducted in a few countries. This study investigated the impact of visuospatial ability (VSA), background factors, and manual dexterity on performance in two different laparoscopic surgical simulators amongst applicants and 1st year surgical residents. Method: Applicants from general surgery, pediatric surgery, and urology were included from seven hospitals in Sweden between 2017 and 2021. Some 73 applicants were invited and 50 completed. Participants filled out a background form, and were tested for manual dexterity, and visuospatial ability. Two laparoscopic simulators were used, one 2D video box trainer and one 3D Virtual Reality Simulator. Results: A significant association was found between the visuospatial ability test and 2D video box laparoscopic performance (95 % CI: 1.028-1.2, p-value <0.01). For every point on the visuospatial test the odds of accomplishing the task increased by 11 %. No association was found between VSA and performance in a laparoscopic VR simulator using 3D vision. No other background factors were associated with performance in the two laparoscopic simulators. Conclusion: Visuospatial ability in applicants to surgical residency positions is associated to performance in a 2D video box trainer. Knowledge of a resident's visuospatial ability can be used to tailor individualized laparoscopic training programs, and in the future might function as a selection tool concerning laparoscopic ability. Key message: Visuospatial ability differs greatly amongst applicants for surgical residency and is associated to laparoscopic simulator performance. Testing applicants' visuospatial ability could possibly be used to tailor individualized laparoscopic training programs or in the future as a selection tool concerning laparoscopic ability.

12.
Int J Med Robot ; 18(4): e2386, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-35240727

RESUMO

BACKGROUND: Costs and a low total number of cases may be obstacles to the successful implementation of a paediatric robotic surgery programme. The aim of this study was to evaluate a decade of paediatric robotic surgery and to reflect upon factors for success and to consider obstacles. MATERIALS AND METHODS: All children operated on with robotic-assisted laparoscopic surgery between 2006 and 2016 were included in a retrospective, single-institutional study in Lund, Sweden. RESULTS: A total of 152 children underwent robotic surgery during the study time with the most frequent procedures being fundoplication (n = 55) and pyeloplasty (n = 53). Procedure times decreased significantly during the study period. Overall, 18 (12%) of the operations were converted to open surgery, and seven (5%) patients required a reoperation. CONCLUSIONS: Despite a low volume of surgery, we have successfully introduced robotic paediatric surgery in our department. Our operative times and conversion rates are continuously decreasing.


Assuntos
Laparoscopia , Procedimentos Cirúrgicos Robóticos , Robótica , Criança , Fundoplicatura , Humanos , Laparoscopia/métodos , Estudos Retrospectivos , Procedimentos Cirúrgicos Robóticos/métodos , Resultado do Tratamento
13.
Pediatr Surg Int ; 27(7): 761-7, 2011 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-21327553

RESUMO

PURPOSE: Computer-assisted laparoscopic surgery (CALS) in children is increasingly used and has proven to be feasible and safe. However, its full potential remains unclear and clinical comparative studies hardly exist. The aim of this study was to prospectively evaluate our experience with CALS for performing retroperitoneal nephrectomies in children when compared with controls undergoing open surgery in terms of safety, operative time, blood loss, opoid requirements, the duration of hospital stay and complications. CHILDREN AND METHODS: Computer-assisted retroperitoneoscopic nephrectomy was undertaken in ten consecutive children, mean age at the time of surgery 6.4 (SD ± 4.5) years, and compared with a retrospectively collected control group of all other children, mean age 3.9 (SD ± 4.6) years, who underwent the same procedure by conventional open surgery between the years 2005 and 2009. The endpoint of the study was 1 month postoperatively. RESULTS: Nephrectomies were performed in all the children and no child was excluded from the study. There was no per-operative complication in any of the groups. The median (range) operative time was 202 (128-325) and 72 (44-160) min for the CALS and open group, respectively. The blood loss was minimal (<20 ml) for all the patients. The postoperative opoid requirements did not differ. The median (range) postoperative hospital stay was 1 (1-4) and 2 (1-7) days for the CALS and the open group, respectively. One complication in the form of an urinoma appeared 5 days after surgery in the CALS group. CONCLUSION: Computer-assisted retroperitoneoscopic nephrectomy is a safe, feasible and effective procedure in children. Even though operative times are longer the patients benefit from the lower morbidity, improved cosmetics and shorter hospitalization associated with the minimally invasive approach.


Assuntos
Nefropatias/cirurgia , Laparoscopia/métodos , Nefrectomia/métodos , Espaço Retroperitoneal/cirurgia , Cirurgia Assistida por Computador/métodos , Adolescente , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Tempo de Internação , Masculino , Estudos Retrospectivos , Robótica , Resultado do Tratamento
14.
J Pediatr Urol ; 16(3): 306.e1-306.e8, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32295743

RESUMO

AIM: To explore the correlation between fistula development and urinary flow measurements after hypospadias repair with emphasis on patients with urethrocutaneous fistula complications and to identify risk factors for fistula development. METHODS: Urinary flow was examined in boys operated on for hypospadias. Outcome of maximum urinary flow (ml/s) (Qmax), voided volume for age (ml) (Volume), and pathological flow pattern (n) (Curve) was compared between the Byars, Mathieu, and Tubularized Incised Plate (TIP) surgical repair methods and between the groups of those who had and had not developed a fistula. Logistic regression analysis was performed for age at operation, genetics, comorbidity, or urinary flow measurements regarding the development of urethrocutaneous fistula. RESULTS: Seventy-three boys underwent hypospadias repair. Overall, the urinary flow measurements differed significantly between the three reconstructive methods, being favorable for the Mathieu procedure regarding Qmax (p < 0.01), volume (p = 0.04), and frequency of pathological voiding curve (p < 0.01; Table). The frequency of urethrocutaneous fistula was 18% (13/73) and did not differ significantly between the three different reconstructive surgery methods (Byar 33%, Mathieu 32%, and TIP 12%; p = 0.22). Urinary flow measurements did not differ between patients with and without fistula complications regarding Qmax 10 ml/s (4-16) vs. 8 ml/s (2-18), voided volume 74 ml (35-171) vs. 71 ml (9-270), or abnormal urinary flow pattern (23% vs. 30%). On logistic regression analysis, age at operation, genetics, comorbidity, and urinary flow measurement parameters did not turn out to be independent risk factors for development of urethrocutaneous fistula after hypospadias repair. DISCUSSIONS: The study demonstrated significant differences between the urinary flow measurement results between the three different repair methods, favoring the Mathieu procedure. A low Qmax was a common postoperative finding. Urinary flow measurements did not differ between boys developing fistula and those who did not. No risk factors for fistula development were identified. The study did not support that it would be possible, at an early postoperative stage, to identify those with an upcoming postoperative fistula neither with urinary flow measurements nor through risk factors. No similar reports have studied the possibility of using postoperative urinary flow measurements to determine patients at risk of fistula development after hypospadias repair. CONCLUSIONS: Urinary flow measurements were favorable after hypospadias reconstruction with Mathieu compared with Byars and TIP. Furthermore, urinary flow measurements did not differ between reconstructed with and without a fistula complication. No risk factor for fistula development was identified.


Assuntos
Fístula Cutânea , Hipospadia , Fístula Urinária , Fístula Cutânea/epidemiologia , Fístula Cutânea/etiologia , Fístula Cutânea/cirurgia , Humanos , Hipospadia/diagnóstico , Hipospadia/cirurgia , Lactente , Masculino , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/etiologia , Estudos Retrospectivos , Resultado do Tratamento , Uretra/cirurgia , Fístula Urinária/epidemiologia , Fístula Urinária/etiologia , Fístula Urinária/cirurgia , Procedimentos Cirúrgicos Urológicos Masculinos/efeitos adversos
15.
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.

17.
Mol Genet Genomic Med ; 7(6): e666, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-31044557

RESUMO

BACKGROUND: The bladder exstrophy-epispadias complex (BEEC) is a congenital malformation of the bladder and urethra. The underlying causes of this malformation are still largely unknown; however, aside from environment, genetics is thought to play an essential role. The recurrent 22q11.2 microduplication is the most persistently detected genetic aberration found in BEEC cases. METHODS: We performed array comparative genomic hybridization (array-CGH) analysis of 76 Swedish BEEC patients. Statistical analysis was performed on current dataset pooled with previously published data on the 22q11.2 microduplication in BEEC patients. We performed massive parallel sequencing (MPS) of the 22q11.2 region in 20 BEEC patients without the 22q11.2 microduplication followed by functional studies. RESULTS: We identified three additional cases with the 22q11.2 microduplication. Pooling data from this study with previously published reports showed a statistically significant enrichment of the 22q11.2 microduplication in BEEC patients (2.61% in cases vs. 0.08% in controls; OR = 32.6; p = 8.7 × 10-4 ). MPS of the 22q11.2 region in 20 BEEC patients without the 22q11.2 microduplication identified a novel variant in LZTR1 (p.Ser698Phe) in one patient. Functional evaluation of the LZTR1 p.Ser698Phe variant in live NIH 3T3 cells showed that the concentration and cytoplasmic mobility differ between the Lztr1wt and Lztr1mut , indicating a potential functional effect of the LZTR1mut . CONCLUSION: Our study further emphasizes the involvement of the 22q11.2 region in BEEC development and highlights LZTR1 as a candidate gene underlying the urogenital malformation.


Assuntos
Anormalidades Múltiplas/genética , Extrofia Vesical/genética , Duplicação Cromossômica/genética , Síndrome de DiGeorge/genética , Anormalidades Múltiplas/metabolismo , Adulto , Animais , Extrofia Vesical/metabolismo , Extrofia Vesical/fisiopatologia , Estruturas Cromossômicas/genética , Cromossomos Humanos Par 22/genética , Cromossomos Humanos Par 22/metabolismo , Hibridização Genômica Comparativa/métodos , Síndrome de DiGeorge/metabolismo , Epispadia/genética , Epispadia/fisiopatologia , Feminino , Humanos , Masculino , Camundongos , Células NIH 3T3 , Fatores de Risco , Suécia , Fatores de Transcrição/genética , Fatores de Transcrição/metabolismo
18.
Surg J (N Y) ; 4(2): e62-e65, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29740616

RESUMO

Background We determined time frames for dilatation of anastomotic strictures (ASs) occurring during the first 2 years after esophageal atresia (EA) repair. Methods A retrospective study was conducted on children with EA (Gross type C) who underwent direct repair between January 2008 and March 2015 at a single tertiary center of pediatric surgery. Endoscopic signs of stricture were indications for dilatation because the endoscopy provides more reliable information than X-ray imagining methods. Results Among our cohort of 49 children with EA, 19 (39%) required at least one esophageal dilatation. All children required initial dilatation within the first year of life and none was older than 1 year during initial dilatation ( p < 0.01). A median of three dilatations (range: 1-13) took place per patient, with 87% performed during the first postoperative year. The timing of initial dilatation in the first year (< 6 months, 14/19 [74%] vs. 6-12 months, 5/19 [26%]) was predictive of the need for dilatation beyond the first year (9/14 [64%] vs. 0/5 [0%]; p = 0.03) but not of more numerous dilatations (median, 3 vs. 1; p = 0.07). Conclusion The need for dilatation within 6 months postoperatively predicts the need for dilatation after 1 year, but it does not indicate the number of dilatations that will be needed.

19.
Gastroenterol Res Pract ; 2018: 6021014, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29887883

RESUMO

BACKGROUND: The aim was to explore if severe congenital heart disease (CHD) influenced the need for dilatation of anastomotic strictures (AS) after the repair of esophageal atresia (EA). METHODS: A retrospective case-control study was conducted examining AS in children with EA and Gross type C. The spectra of CHD and cardiac interventions were reviewed. The frequency of dilatations of AS during the first year following EA reconstruction was compared between children with and without severe CHD requiring cardiac surgery during their first year of life. Endoscopic signs of stricture were an indication for dilatation. RESULTS: Included in the follow-up for AS were 94 patients who had EA reconstructions, of whom 10 (11%) children had severe CHD requiring surgery during the first year including 19 different cardiac interventions. In total, 38 patients needed dilatation of esophageal AS, distributed as six (60%) with severe CHD and 32 (38%) without severe CHD (p = 0.31). CONCLUSION: Severe CHD was present in 11% of children with EA. Esophageal AS developed in 60% children with concomitant CHD, but although high, it did not reach statistical difference from children without CHD (38%).

20.
Eur J Pediatr Surg ; 27(2): 192-195, 2017 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-27214095

RESUMO

Introduction Proton pump inhibitors (PPIs) are used as prophylaxis, guarding against anastomotic stricture (AS) in the aftermath of reconstructed esophageal atresia (EA). The incidence of stricture formation was studied in this setting, comparing outcomes of 3- and 12-month PPI prophylactic regimens. Patients and Methods Patient characteristics (gestational age, birth weight, prevalence of chromosomal aberrations, and other malformations), as well as rates of survival, AS formation, and required balloon dilation, were recorded in the following therapeutic subsets: (1) all infants undergoing primary surgical anastomosis for EA in years 2010-2014 and given postoperative PPI prophylaxis for 12 months and (2) all infants similarly treated for EA in years 2001-2009 but given postoperative PPI prophylaxis for 3 months only. Duration of follow-up was 1 year in each group. Results Patient characteristics and survival rates in 12-month (n = 33) and in 3-month (n = 30) treatment groups did not differ significantly. The prevalence of AS was 42%/43% in each group (12 months, 14/33; 3 months, 13/30; p = 1). Median number of dilations required was 3 (range, 1-9) per patient in each group (p = 0.69). Median age at initial dilation was 163 days and 63 days in 12- and 3-month groups, respectively (p = 0.04). Conclusion Development of AS in the first year after reconstruction of EA was not reduced by prolonged PPI prophylaxis (12 vs. 3 months), but initial balloon dilation procedures were performed later in infants who were treated longer.


Assuntos
Atresia Esofágica/tratamento farmacológico , Estenose Esofágica/prevenção & controle , Complicações Pós-Operatórias/prevenção & controle , Inibidores da Bomba de Prótons/uso terapêutico , Estudos de Casos e Controles , Atresia Esofágica/complicações , Estenose Esofágica/complicações , Estenose Esofágica/cirurgia , Feminino , Idade Gestacional , Humanos , Lactente , Masculino
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA