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Archives of Pathology & Laboratory... Dec 2011Primary adenocarcinoma of urinary bladder is an uncommon neoplasm and is a source of diagnostic confusion with adenocarcinomas arising in adjacent organs, especially... (Review)
Review
Primary adenocarcinoma of urinary bladder is an uncommon neoplasm and is a source of diagnostic confusion with adenocarcinomas arising in adjacent organs, especially colon. These tumors show varied histologic picture and degree of differentiation. Clinical association with bladder exstrophy and schistosomiasis has been well documented. Primary bladder adenocarcinomas have overlapping histologic and immunohistochemical features with adenocarcinomas arising from other primary sites and the suggested immunohistochemical panel includes cytokeratins 7 and 20, 34βE12, thrombomodulin, CDX2, and β-catenin. Clinical, imaging, histologic, and immunohistochemical correlation should be done while rendering this diagnosis, as prognosis and therapeutic options for primary versus metastatic adenocarcinoma vary widely.
Topics: Adenocarcinoma; CDX2 Transcription Factor; Homeodomain Proteins; Humans; Immunohistochemistry; Keratin-20; Keratin-7; Keratins; Microfilament Proteins; Thrombomodulin; Urinary Bladder Neoplasms; beta Catenin
PubMed: 22129192
DOI: 10.5858/arpa.2009-0713-RS -
American Journal of Medical Genetics.... Nov 2011Bladder exstrophy (BE) is a complex congenital anomaly characterized by a defect in the closure of the lower abdominal wall and bladder. We aimed to provide an overview... (Review)
Review
Bladder exstrophy (BE) is a complex congenital anomaly characterized by a defect in the closure of the lower abdominal wall and bladder. We aimed to provide an overview of the literature and conduct an epidemiologic study to describe the prevalence, and maternal and case characteristics of BE. We used data from 22 participating member programs of the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR). All cases were reviewed and classified as isolated, syndrome, and multiple congenital anomalies. We estimated the total prevalence of BE and calculated the frequency and odds ratios for various maternal and case characteristics. A total of 546 cases with BE were identified among 26,355,094 births. The total prevalence of BE was 2.07 per 100,000 births (95% CI: 1.90-2.25) and varied between 0.52 and 4.63 among surveillance programs participating in the study. BE was nearly twice as common among male as among female cases. The proportion of isolated cases was 71%. Prevalence appeared to increase with increasing categories of maternal age, particularly among isolated cases. The total prevalence of BE showed some variations by geographical region, which is most likely attributable to differences in registration of cases. The higher total prevalence among male cases and older mothers, especially among isolated cases, warrants further attention.
Topics: Americas; Australia; Biomedical Research; Bladder Exstrophy; China; Congenital Abnormalities; Epidemiologic Studies; Europe; Female; Humans; Infant, Newborn; International Cooperation; Male; Maternal Age; Population Surveillance; Pregnancy; Prevalence; Registries; Sex Ratio
PubMed: 22002949
DOI: 10.1002/ajmg.c.30316 -
American Journal of Perinatology May 2022Bladder exstrophy (BE) is a rare but severe birth defect affecting the lower abdominal wall and genitourinary system. The objective of the study is to examine the...
OBJECTIVE
Bladder exstrophy (BE) is a rare but severe birth defect affecting the lower abdominal wall and genitourinary system. The objective of the study is to examine the total prevalence, trends in prevalence, and age-specific mortality among individuals with BE.
STUDY DESIGN
We conducted a retrospective cohort study. Data were analyzed from 20 birth defects surveillance programs, members of the International Clearinghouse for Birth Defects Surveillance and Research in 16 countries. Live births, stillbirths, and elective terminations of pregnancy for fetal anomaly (ETOPFA) diagnosed with BE from 1974 to 2014. Pooled and program-specific prevalence of BE per 100,000 total births was calculated. The 95% confidence intervals (CI) for prevalence were estimated using Poisson approximation of binomial distribution. Time trends in prevalence of BE from 2000 to 2014 were examined using Poisson regression. Proportion of deaths among BE cases was calculated on the day of birth, day 2 to 6, day 7 to 27, day 28 to 364, 1 to 4 years, and ≥5 years. Mortality analysis was stratified by isolated, multiple, and syndromic case status.
RESULTS
The pooled total prevalence of BE was 2.58 per 100,000 total births (95% CI = 2.40, 2.78) for study years 1974 to 2014. Prevalence varied over time with a decreasing trend from 2000 to 2014. The first-week mortality proportion was 3.5, 17.3, and 14.6% among isolated, multiple, and syndromic BE cases, respectively. The majority of first-week mortality occurred on the first day of life among isolated, multiple, and syndromic BE cases. The proportion of first-week deaths was higher among cases reported from programs in Latin America where ETOPFA services were not available.
CONCLUSIONS
Prevalence of BE varied by program and showed a decreasing trend from 2000 to -2014. Mortality is a concern among multiple and syndromic cases, and a high proportion of deaths among cases occurred during the first week of life.
KEY POINTS
· Total prevalence of BE was 2.58 per 100,000 births.. · Prevalence decreased from 2000 to 2014.. · The first-week mortality was 9.3%..
PubMed: 35644130
DOI: 10.1055/s-0042-1748318 -
Journal of Indian Association of... 2017Bladder augmentation is an important part of pediatric reconstructive urology. This study was conducted to assess the feasibility and results of our technique of...
INTRODUCTION
Bladder augmentation is an important part of pediatric reconstructive urology. This study was conducted to assess the feasibility and results of our technique of preperitoneal bladder augmentation.
MATERIALS AND METHODS
Thirty-three children underwent preperitoneal bladder augmentation for small inelastic bladders who had failed medical management or needed undiversion. The underlying diagnosis included neurogenic bladder, valve bladder, bladder exstrophy, non-neurogenic neurogenic, ectopic ureters, and urogenital sinus. The operative procedure involved placing the entire augmentation in the preperitoneal or subcutaneous space after bivalving the native bladder. The augment segment of the bowel with its pedicle was brought into the preperitoneal space through a small opening in the parietal peritoneum. A Mitrofanoff port was also provided where needed.
RESULTS
Preperitoneal augmentation provided an adequately compliant, good volume bladder except in children with bladder exstrophy or previous abdominal surgery. There was a good cystometric recovery, with resolution of hydronephrosis and incontinence. Vesicoureteral reflux resolved in 24 of 26 units. In the 13 children who were uremic preoperatively, there was a significant decrease in serum creatinine levels, although 9 children continued to have supra-normal serum creatinine. Surgical complications seen were within expectations. There was no incidence of intraperitoneal leak, which is the main projected benefit of this procedure over the traditional "intraperitoneal" method of augmentation.
CONCLUSIONS
The preperitoneal augmentation provides an adequate, safe, and low-pressure reservoir of urine except in cases of bladder exstrophy and previous abdominal surgery.
PubMed: 28974870
DOI: 10.4103/0971-9261.214443 -
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 -
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 -
Urology Case Reports Nov 2023A one-day old full-term female neonate presented with a duplicate bladder and exstrophy variant including a patch of exstrophic or ectopic mucosa, duplicate vagina,...
A one-day old full-term female neonate presented with a duplicate bladder and exstrophy variant including a patch of exstrophic or ectopic mucosa, duplicate vagina, uterus, and two complete bladders. We report on the surgical management performed in this case and functional urinary results based on a synchronous urodynamic study of the duplicate bladders. To our knowledge, the occurrence of duplicate bladder exstrophy variant with complete urinary continence has not been previously reported.
PubMed: 38046258
DOI: 10.1016/j.eucr.2023.102610 -
International Neurourology Journal Nov 2016This review provides a comprehensive view of translational research aimed at elucidating the pathophysiology of pediatric lower urinary tract dysfunction (LUTD). A web... (Review)
Review
This review provides a comprehensive view of translational research aimed at elucidating the pathophysiology of pediatric lower urinary tract dysfunction (LUTD). A web search was conducted according to combinations of keywords, and the significance of each article was defined by the author. The dramatic evolution of the mass analysis method of genomes, transcripts, and proteins has enabled a comprehensive analysis of molecular events underlying diseases, and these methodologies have also been applied to pediatric LUTD. In genetic analyses of syndromes underlying daytime incontinence, urofacial (Ochoa) syndrome may be creating a prototype of a new research approach. Nocturnal enuresis has long been studied genetically, and several candidate loci have been reported. However, the pursuit for enuresis genes has been abandoned partly because genetic association and enuresis phenotype (bladder or renal type) could not be linked. Enuresis associated with diabetes insipidus has provided new insights into the etiology of the diseases. A chronobiological approach may shed new light on this area. Posterior urethral valves and neurogenic bladders have attracted the interest of pediatric urologists to the smooth muscle biology of the bladder. Bladder exstrophy and cloacal anomalies are rare but major anomalies caused by defective urorectal development and have recently been studied from a genetic standpoint. Translational studies for pediatric LUTD may be extended to adult bladder disease, or to application of precision medicine for diseased children.
PubMed: 27915476
DOI: 10.5213/inj.1632726.363 -
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