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African Journal of Paediatric Surgery :... 2022Bladder exstrophy is a major malformation in paediatric urology. The treatment results are not still completely satisfactory, and their management is an enormous problem...
INTRODUCTION
Bladder exstrophy is a major malformation in paediatric urology. The treatment results are not still completely satisfactory, and their management is an enormous problem in Sub-Saharan Africa. While outlining our challenges, we report our management experience to improve our results.
SUBJECTS AND METHODS
We retrospectively reviewed the records of patients undergoing surgical repair of classic bladder exstrophy at our department between January 2010 and December 2019 (10 years). Epidemiological, clinical, therapeutic and evolution data were analysed.
RESULTS
Twenty-five children with classic bladder exstrophy were treated. Our series included 16 boys and 9 girls with a sex ratio of 1.7. Age ranged from 0 day to 6 years. Twenty-five bladder closures were performed, associated to pelvic osteotomy in 11 cases. Epispadias repair was performed on nine boys. Eight cases of bladder neck reconstruction and three cases of bladder enlargement were performed. We observed six bladder fistulas, four wound dehiscence, of which three partial, two parietal suppurations and six cases of urinary tract infection. Eight children had a continence of 1-2 h.
CONCLUSION
The treatment of bladder exstrophy in our context is still limited because of financial difficulties encountered by the population and the insufficient technical platform in our country.
Topics: Bladder Exstrophy; Child; Epispadias; Female; Humans; Infant, Newborn; Male; Retrospective Studies; Urinary Bladder; Urinary Incontinence
PubMed: 35775519
DOI: 10.4103/ajps.AJPS_167_20 -
Children (Basel, Switzerland) May 2024Cloacal exstrophy is the most severe congenital anomaly of the exstrophy-epispadias complex and is characterized by gastrointestinal, genitourinary, neurospinal, and... (Review)
Review
Cloacal exstrophy is the most severe congenital anomaly of the exstrophy-epispadias complex and is characterized by gastrointestinal, genitourinary, neurospinal, and musculoskeletal malformations. Individualized surgical reconstruction by a multidisciplinary team is required for these complex patients. Not infrequently, patients need staged surgical procedures throughout childhood and adolescence. Following significant improvements in medical care and surgical reconstructive techniques, nearly all patients with cloacal exstrophy now survive, leading to an increased emphasis on quality of life. Increased attention is given to gender identity and the implications of reconstructive decisions. Long-term sequelae of cloacal exstrophy, including functional continence and sexual dysfunction, are recognized, and many patients require ongoing complex care into adulthood.
PubMed: 38790539
DOI: 10.3390/children11050544 -
Urology Case Reports Nov 2021The Exstrophy - Epispadias Complex (EEC) is a spectrum of rare congenital malformations involving the urinary, genital and musculoskeletal systems. We present an...
The Exstrophy - Epispadias Complex (EEC) is a spectrum of rare congenital malformations involving the urinary, genital and musculoskeletal systems. We present an atypical or variant case of EEC in which a bladder plate is found involving a small omphalocele, separated pubic bones and bladder and urethral duplication. The treatment had a favorable outcome, with bladder control and the child voiding normally. Perhaps the best accepted embryonic theory to explain exstrophy and its variants should be reviewed as it fails to satisfactorily explain the alterations we found.
PubMed: 34285880
DOI: 10.1016/j.eucr.2021.101769 -
Cureus Oct 2022Bladder exstrophy (BE) is a rare congenital anomaly caused by an embryological defect in the closure of the abdominal wall. It comprises a spectrum of defects about...
Bladder exstrophy (BE) is a rare congenital anomaly caused by an embryological defect in the closure of the abdominal wall. It comprises a spectrum of defects about severity, including epispadias in the mildest form and cloacal exstrophy in the worst. Surgical correction is required to achieve urinary continence, maintain normal renal function, achieve secured abdominal wall closure, and create cosmetically and functionally satisfactory genitalia. Iliac bone osteotomy is considered essential to achieve the above goals in most patients by reducing the tension of the closed abdominal wall layers, particularly when present late in infancy. Several types of pelvic iliac bone osteotomy have been described to aid bladder and cloacal exstrophy closure. They can be grouped into posterior iliac osteotomy, anterior iliac osteotomy, oblique (also called diagonal) iliac osteotomy, and a combination of posterior and anterior iliac osteotomy. We described here the Y-pelvic osteotomy, which was developed by the Manchester Orthopaedic Group in the United Kingdom. It has the advantage of anterior and posterior osteotomies but also has less risk to the neurovascular structures, less blood loss, and ease of surgical technique. The osteotomy was named the Y-pelvic osteotomy due to the morphological shape it resembles.
PubMed: 36415431
DOI: 10.7759/cureus.30520 -
Journal of Indian Association of... 2022The aim of this study is to report surgical outcomes of the neonates who have undergone various surgical procedures.
PURPOSE
The aim of this study is to report surgical outcomes of the neonates who have undergone various surgical procedures.
MATERIALS AND METHODS
In this retrospective study, 39 neonates who have undergone a surgical procedure in Mogadishu Somalia Turkey Recep Tayyip Erdoğan Training and Research Hospital, between October 2018 and March 2019 were included. Data regarding age, gender, diagnosis, surgical procedure, length of hospital stay, mortality, and cause of mortality were recorded.
RESULTS
Of 39 neonates, 12 were female (30.7%) and 27 were male (69.3%). The mean age of the neonates at admission was 7.7 ± 7.6 days (1-30 days) days. The most common diagnoses were anal atresia ( = 12, 30.8%), esophageal atresia ( = 9, 23.1%), and pyloric stenosis ( = 5, 12.8%). The most common surgical procedures were colostomy creation ( = 10, 25.6%), esophageal anastomosis ( = 9, 20.5%), primary closure of anterior abdominal wall defects including bladder exstrophy ( = 6, 15.4%), and pyloromyotomy ( = 5, 12.8%). Mortality rate was 17.9%, and mortality causes were sepsis ( = 4, 57.1%) and congenital heart disease ( = 3, 42.9%). Neonates with the highest mortality by underlying primary surgical diagnosis were esophageal atresia (n=4, 57.1%).
CONCLUSION
The mortality rate from the surgical procedures of the neonates in Somalia is extremely high when compared with the developed countries. Employment of experienced pediatric surgeons and well-trained nurses, strict attention to the sanitary measures and shortening the time from birth to presentation might improve the surgical outcomes of the neonates in Somalia.
PubMed: 35937105
DOI: 10.4103/jiaps.JIAPS_349_20 -
Molecular and Cellular Pediatrics Mar 2023Advances in molecular biology are improving our understanding of the genetic causes underlying human congenital lower urinary tract (i.e., bladder and urethral)... (Review)
Review
Advances in molecular biology are improving our understanding of the genetic causes underlying human congenital lower urinary tract (i.e., bladder and urethral) malformations. This has recently led to the identification of the first disease-causing variants in the gene BNC2 for isolated lower urinary tract anatomical obstruction (LUTO), and of WNT3 and SLC20A1 as genes implicated in the pathogenesis of the group of conditions called bladder-exstrophy-epispadias complex (BEEC). Implicating candidate genes from human genetic data requires evidence of their influence on lower urinary tract development and evidence of the found genetic variants' pathogenicity. The zebrafish (Danio rerio) has many advantages for use as a vertebrate model organism for the lower urinary tract. Rapid reproduction with numerous offspring, comparable anatomical kidney and lower urinary tract homology, and easy genetic manipulability by Morpholino®-based knockdown or CRISPR/Cas editing are among its advantages. In addition, established marker staining for well-known molecules involved in urinary tract development using whole-mount in situ hybridization (WISH) and the usage of transgenic lines expressing fluorescent protein under a tissue-specific promoter allow easy visualization of phenotypic abnormalities of genetically modified zebrafish. Assays to examine the functionality of the excretory organs can also be modeled in vivo with the zebrafish. The approach of using these multiple techniques in zebrafish not only enables rapid and efficient investigation of candidate genes for lower urinary tract malformations derived from human data, but also cautiously allows transferability of causality from a non-mammalian vertebrate to humans.
PubMed: 36977792
DOI: 10.1186/s40348-023-00156-4 -
International Braz J Urol : Official... 2022Total corpora mobilization (TCM) is a novel technique that is used for penile reconstruction in cases of micropenis and penile amputation. Its principle is based on...
PURPOSE
Total corpora mobilization (TCM) is a novel technique that is used for penile reconstruction in cases of micropenis and penile amputation. Its principle is based on Kelly's procedure for bladder exstrophy (1). In contrast to the Kelly procedure, TCM is performed entirely through the perineum with the patient in the lithotomy position.
MATERIALS AND METHODS
TCM was performed on three patients. The first was a boy who suffered trauma from a dog bite at an age of eight months. At 23 years old he underwent TCM. The second patient had genital self-amputation induced by psychiatric disorder. After treatment, at 27 years old, he desired surgery for penile reconstruction. The third patient had partial androgen insensitivity syndrome (PAIS) with a micropenis and at 23 years old had TCM procedure. The patients were placed in the lithotomy position with a perineal incision in the midline. A subperiosteal incision was made and the corpora cavernosa were detached from the pubic arch and the ischial rami. The periosteum and the neurovascular bundles were preserved. Subsequently the corpora cavernosa was mobilized upward and the periosteum that was left attached to them was sutured to the pubis.
RESULTS
At twenty-four, nine, and six months, respectively, in the follow-up process, all patients expressed satisfaction with the final cosmetic appearance, penile length, and erectile function.
CONCLUSION
TCM may prove to be an alternative for patients with a functional disturbance because of small penile length, though a higher number of cases and a more extended follow-up are needed to draw a more definitive conclusion.
Topics: Animals; Bladder Exstrophy; Dogs; Genital Diseases, Male; Humans; Male; Penile Diseases; Penile Erection; Penis
PubMed: 35838516
DOI: 10.1590/S1677-5538.IBJU.2022.0177 -
Frontiers in Pediatrics 2019Today, there are few indications for the use of bowel in pediatric urology. This is in large extent due to the successful conservative therapy in patients with... (Review)
Review
Today, there are few indications for the use of bowel in pediatric urology. This is in large extent due to the successful conservative therapy in patients with neurogenic bladder and the improved success of primary reconstruction in patients with the bladder exstrophy-epispadias complex. Only after the failure of the maximum of conservative therapy or after failure of primary reconstruction, bladder augmentation, or urinary diversion should be considered. Malignant tumors of the lower urinary tract (e.g., rhabdomyosarcomas of the bladder/prostate) are other rare indications for urinary diversion. Replacement or reconstruction of the ureter with a bowel segment is also a quite rarely performed procedure. In this review, the advantages and disadvantages of the different options for the use of bowel segments for bladder augmentation, bladder substitution, urinary diversion, or ureter replacement during childhood and adolescence are discussed.
PubMed: 31245339
DOI: 10.3389/fped.2019.00236 -
Biomolecules Jul 2023The bladder exstrophy-epispadias complex (BEEC) is a spectrum of congenital abnormalities that involves the abdominal wall, the bony pelvis, the urinary tract, the...
BACKGROUND
The bladder exstrophy-epispadias complex (BEEC) is a spectrum of congenital abnormalities that involves the abdominal wall, the bony pelvis, the urinary tract, the external genitalia, and, in severe cases, the gastrointestinal tract as well.
METHODS
Herein, we performed an exome analysis of case-parent trios with cloacal exstrophy (CE), the most severe form of the BEEC. Furthermore, we surveyed the exome of a sib-pair presenting with classic bladder exstrophy (CBE) and epispadias (E) only. Moreover, we performed large-scale re-sequencing of CBE individuals for novel candidate genes that were derived from the current exome analysis, as well as for previously reported candidate genes within the CBE phenocritical region, 22q11.2.
RESULTS
The exome survey in the CE case-parent trios identified two candidate genes harboring de novo variants (, ), four candidate genes with autosomal-recessive biallelic variants (, , , ) and one candidate gene with suggestive uniparental disomy (). However, re-sequencing did not identify any additional variant carriers in these candidate genes. Analysis of the affected sib-pair revealed no candidate gene. Re-sequencing of the genes within the 22q11.2 CBE phenocritical region identified two highly conserved frameshift variants that led to early termination in two independent CBE males, in (c.978_985del, p.Ser327fster6) and in (c.1087delC, p.Arg363fster68).
CONCLUSIONS
According to previous studies, our study further implicates in CBE formation. Exome analysis-derived candidate genes from CE individuals may not represent a frequent indicator for other BEEC phenotypes and warrant molecular analysis before their involvement in disease formation can be assumed.
Topics: Male; Humans; Bladder Exstrophy; Epispadias; Exome; Urinary Bladder; Calcium-Binding Proteins; Membrane Proteins; Transcription Factors
PubMed: 37509153
DOI: 10.3390/biom13071117