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Alberto Peña

Publications and source records attributed to Alberto Peña.

16 recordsLinked to original sources
PubMed2007

Increased heritability of certain types of anorectal malformations.

PURPOSE: Various lines of evidence point to genetic causes for the diverse spectrum of anorectal malformations (ARMs); we therefore studied patterns of heritability in a large case series. METHODS: We searched our ARM database for all patients having family members with congenital anomalies. This group was analyzed to determine the type of ARM and the specific anomalies in affected family members. RESULTS: Thirty-nine of 1606 patients (2.4%) had a family member with a congenital anomaly. The associated non-ARM anomalies included sacral masses and gynecologic, hematologic, esophageal, duodenal, renal, and spinal anomalies. Of these, 24 patients (1.4%) had 1 or more family members with an ARM. Among females with a positive family history, 73% of patients had either a vestibular or perineal fistula, compared with only 36% in patients without a family history (P = .0004). Among males, 35% had perineal fistulas compared with only 10% of those without affected family members (P = .0051). CONCLUSIONS: A positive family history in 1.4% is supportive of a strong genetic component to ARM. The risk of having an affected family member is significantly increased in the presence of a vestibular or perineal fistula. These new data allow for more informed counseling of families with an ARM and support the need for further genetic studies.

Anal Canal↗
PubMed2005

Pitfalls in the management of newborn cloacas.

Clinicians caring for newborns with persistent cloaca face significant challenges in the newborn period. Avoiding key pitfalls during this time can have dramatic implications. We reviewed the medical records of 361 patients with cloaca operated on at our institution and analyzed sequelae that resulted from incorrect management in the newborn period. Of 361 patients, 282 underwent primary operations at our institution, and 79 patients were referred to us after a failed repair at other institutions. Pitfalls in management during the newborn period included the following: (1) Failure to recognize and manage hydrocolpos, which occurred in 46 patients. Of these, three patients developed pyocolpos (two progressed to vaginal perforation), and 43 suffered from persistent bilateral hydronephrosis, megaureters, recurrent urinary tract infections, persistent acidosis, or failure to thrive due to undrained hydrocolpos. They underwent unnecessary urinary drainage procedures (nephrostomy, ureterostomy, cystostomy, or vesicostomy) in the newborn period. When the vagina was finally decompressed, all of these symptoms disappeared. (2) Colostomy or vesicostomy problems, which occurred in 50 patients. These included incorrect placement of the colostomy (too distal, which interfered with the pull-through) in 24 and colostomy prolapse in 23. Incompletely diverting loop colostomies led to urinary tract infections in 49 patients. Vesicostomy prolapse occurred in three patients. (3) Clinical misdiagnosis, which occurred in 42 patients. Six were incorrectly diagnosed as "intersex" and 36 as "rectovaginal fistula." In this group only the rectum was repaired, and the patients were left with a urogenital sinus that required reoperation. Proper management of a newborn with cloaca includes drainage of a hydrocolpos, which avoids unnecessary urinary diversions and pyocolpos. Our preferred colostomy is one with separated stomas, adequate distal bowel for the pull-through, and use of a proper technique to avoid prolapse. Correct clinical diagnosis of cloaca avoids problems during the definitive repair.

Cloaca↗
PubMed2005

Surgical management of perineal masses in patients with anorectal malformations.

BACKGROUND: The aim of this study was to review the outcome of surgical management of various types of perineal masses encountered in patients with anorectal malformations (ARM). METHODS: Retrospective review from 2 large pediatric anorectal referral centers. RESULTS: Twenty-two patients with a perineal mass were identified in more than 2000 patients treated for an ARM over a 15-year period. The 22 patients (4 men) represented all levels of severity of ARMs. The lesions were of 3 types: lipomas (n = 10), vascular anomalies (n = 4), and hamartomas/choristomas (n = 8). The lipomas were carefully removed from between the muscle fibers during the posterior sagittal anorectoplasty. The vascular anomalies (3 of 4 were hemangiomas) underwent magnetic resonance imaging preoperatively, but none were found to invade deeply and all were excised at the time of the posterior sagittal anorectoplasty. The hamartomas/choristomas all occurred in women, and 50% arose as a pedunculated mass from the vulva. The lesions contained tissues such as glia, osteoid, nephrogenic rests, and endocervical-type mucosa. One was initially misinterpreted as a teratoma, prompting a wider excision. This and all subsequent patients have been correctly diagnosed pathologically as having either hamartomas or choristomas, which were not widely excised. Follow-up ranges from 5 months to 12 years. Six of the 10 lipoma patients are continent. One vascular anomaly was re-excised and there was minor wound separation in another. None of the hamartoma/choristoma lesions recurred. CONCLUSION: The presence of unusual perineal masses can add to the complexity of ARMs; however, most of these lesions can be carefully excised with preservation of the muscle complex and ultimate continence. Hamartomatous lesions can be mistaken for teratomas but do not require aggressive excision with clear margins.

Anal Canal↗
PubMed2005

Rectal prolapse following posterior sagittal anorectoplasty for anorectal malformations.

PURPOSE: Rectal prolapse is a known postoperative problem in children with anorectal malformations. The aims of this study were to determine the incidence of significant rectal prolapse (>5 mm), to objectively quantify its predisposing factors, and to offer recommendations as to its prevention and surgical treatment. METHODS: The authors reviewed their series of 1619 patients with anorectal malformations; 1169 underwent primary posterior sagittal anorectoplasty (PSARP) at their institution between 1980 and 2002, and complete records were available for 833. The series was analyzed for incidence of prolapse, type of anorectal malformation, status of the sacrum, muscle quality, associated vertebral and spinal anomalies, and postoperative constipation. A specific technique for prolapse repair was used. RESULTS: Of 833 patients, 45 developed significant rectal prolapse (3.8%). The mean age at the time of PSARP was 0.73 years (range, 0.19-5 years). The average time to recognition of prolapse following PSARP was 13.1 months. Of these 45 patients, 32 required surgical repair and of those, 3 required a second surgical repair. The incidence of prolapse varied by complexity of anorectal defect: cloaca (6.2%), rectobladder neck fistula (6.8%), rectourethral fistula (5.4%), rectovestibular fistula (1.2%), rectal atresia (0%), and rectoperineal fistula (0%). There was a significantly increased incidence of prolapse in patients with a low muscle quality score and in patients with vertebral anomalies (20% vs 3.2%). The presence of a tethered cord and an abnormal sacral ratio did not correlate with an increased incidence of prolapse. Twenty-two patients developed prolapse following colostomy closure, and of these, 12 (55%) suffered from constipation. CONCLUSIONS: The overall incidence of significant rectal prolapse following PSARP is low. Prevention of prolapse with the PSARP technique may be because of key technical steps. Patients with higher anorectal malformations, poorer muscle quality, and vertebral anomalies had a greater risk of developing postoperative rectal prolapse. The presence of tethered cord and quality of the sacrum were not predictive of postoperative prolapse. Constipation seems to be a factor in the development of prolapse.

Anal Canal↗
PubMed2005

Outcomes from the correction of anorectal malformations.

PURPOSE OF REVIEW: Anorectal malformations have been recognized and managed since antiquity, with surgical treatment evolving to maximize anatomic reconstruction, avoid complications, and understand mechanisms of incontinence, ultimately leading to improved quality of life for patients. This review describes recent advances in the management of anorectal malformations, including prenatal diagnosis, newborn treatment, surgical correction, and postoperative care. RECENT FINDINGS: Surgical treatment has improved with better understanding and exposure of anatomy and appreciation of the intimate relation between rectum and urinary tract. Repair of cloacal malformations has evolved to include the total urogenital mobilization and an appreciation of the complex associated Mullerian anomalies. The importance of associated urologic, gynecologic, neurologic, and orthopedic malformations has been recognized. Addition of a bowel management program to patients' postoperative care has increased dramatically the number of children who are clean and dry. SUMMARY: Management of anorectal malformations requires an accurate clinical diagnosis, proper newborn treatment, meticulous anatomic reconstruction, and comprehensive postoperative care with the goal of having a child who is clean and dry, with an excellent quality of life, because they either have the capacity for continence or can be kept artificially clean with a comprehensive bowel management program.

Abnormalities, Multiple↗
PubMed2004

Surgical management of cloacal malformations: a review of 339 patients.

BACKGROUND/PURPOSE: The aim of this study was to describe lessons learned from the authors' series of patients with cloaca and convey the improved understanding and surgical treatment of the condition's wide spectrum of complexity. METHODS: The medical records of 339 patients with cloaca operated on by the authors were retrospectively reviewed. RESULTS: A total of 265 patients underwent primary operations, and 74 were secondary. All patients were approached posterior sagittally; 111 of them also required a laparotomy. The average length of the common channel was 4.7 cm for patients that required a laparotomy and 2.3 cm for those that did not. Vaginal reconstruction involved a vaginal pull-through in 196 patients, a vaginal flap in 38, vaginal switch in 30, and vaginal replacement in 75 (36 with rectum, 31 with ileum, and 8 with colon). One hundred twenty-two patients underwent a total urogenital mobilization. Complications included vaginal stricture or atresia in 17, urethral strictures in 6, and urethro-vaginal fistula in 19, all of which occurred before the introduction of the total urogenital mobilization. A total of 54% of all evaluated patients were continent of urine and 24% remain dry with intermittent catheterization through their native urethra and 22% through a Mitrofanoff-type of conduit. Seventy-eight percent of the patients with a common channel longer than 3 cm require intermittent catheterization compared with 28% when their common channel was shorter than 3 cm. Sixty percent of all cases have voluntary bowel movements (28% of them never soiled, and 72% soiled occasionally). Forty percent are fecally incontinent but remain clean when subjected to a bowel management program. Forty-eight patients born at other institutions with hydrocolpos were not treated correctly during the neonatal period. The surgeons failed to drain the dilated vaginas, which interfered with the drainage of the ureters and provoked urinary tract infections, pyocolpos, and/or vaginal perforation. In 24 patients, the colostomy was created too distally, and it interfered with the pull-through. Twenty-three patients suffered from colostomy prolapse. All of these patients required a colostomy, revision before the main repair. Thirty-six patients underwent reoperation because they had a persistent urogenital sinus after an operation done at another institution, and 38 patients underwent reoperation because they suffered from atresia or stenosis of the vagina or urethra. The series was divided into 2 distinct groups of patients: group A were those with a common channel shorter than 3 cm (62%) and group B had a common channel longer than 3 cm (38%). CONCLUSIONS: The separation of these groups has important therapeutic and prognostic implications. Group A patients can be repaired posterior sagittally with a reproducible, relatively short operation. Because they represent the majority of patients, we believe that most well-trained pediatric surgeons can repair these type of malformations, and the prognosis is good. Group B patients (those with a common channel longer than 3 cm), usually require a laparotomy and have a much higher incidence of associated urologic problems. The surgeons who repair these malformations require special training in urology, and the operations are prolonged, technically demanding, and the functional results are not as good as in group A. It is extremely important to establish an accurate neonatal diagnosis, drain the hydrocolpos when present, and create an adequate, totally diverting colostomy, leaving enough distal colon available for the pull-through and fixing the colon to avoid prolapse. A correct diagnosis will allow the surgeon to repair the entire defect and avoid a persistent urogenital sinus. Cloacas comprise a spectrum of defects requiring a complex array of surgical decisions. The length of the common channel is an important determinant of the potential for urinary control, and predicts the extent of surgical repair.

Cloaca↗
PubMed2003

Reoperative surgery for anorectal anomalies.

Complications occur during the repair of anorectal malformations relatively frequently. Unfortunately, these complications are often preventable. Furthermore, the consequences of these complications are significant. Not only do patients experience unnecessary pain and suffering, but a secondary operation always renders less optimal functional results. A 20-year experience in the care of children with anorectal malformations was retrospectively analyzed. Patients who previously underwent surgical repair at other institutions, and subsequently required secondary surgery by the primary author were evaluated; 334 patients were identified. Reasons for reoperation included fecal incontinence in 77 patients; dehiscence and retraction in 96; recto-genito-urinary fistulae in 55; persistent urogenital sinus in 31 cloaca patients; acquired vaginal atresia in 21; acquired urethral atresia in 9; posterior urethral diverticulum in 20; and overflow pseudo incontinence in 25 patients. Except for fecal incontinence, all other complications are considered preventable. The source of the complications in almost all other settings are technical errors at the time of the primary repair. Recommendations are presented to help prevent these complications, and suggestions are made on how to treat them when they occur.

Anal Canal↗
PubMed2003

Surgical management of cloacal malformations.

Cloaca is defined as a defect in which the urinary tract, the vagina and the rectum are fused, creating a single common channel, and opening into an orifice at the site of the normal urethra. Correct management includes an early diagnosis and adequate treatment from the newborn period. We believe that these patients are frequently misdiagnosed and consequently mistreated. The analysis of our experience with the treatment of 330 cases allowed us to make specific recommendations to improve the management of these patients. During the first 24 h of life, emphasis is placed on the recognition and treatment of potentially lethal associated defects, mainly urologic, oesophageal or cardiac. The baby should not be taken to the operating room without ruling out these associated defects. The basic principles of the main repair are delineated. Patients suffering from cloacas with common channels shorter than 3 cm can be treated by a general paediatric surgeon, provided he or she is familiar with the procedure and observes a delicate and meticulous technique. Patients suffering from cloacas with common channels longer than 3 cm belong, by definition, to a more complex type of deformity that, in order to be repaired, requires a surgeon with more experience as well as knowledge of paediatric urology. Sixty percent of all our patients enjoy voluntary bowel movements (VBM). Seventy percent of all patients with a common channel longer than 3 cm require intermittent catheterization to empty their bladder, whereas 20% of those born with a common channel shorter than 3 cm require such a manoeuvre. All patients must be followed on a long-term basis in order to evaluate sexual function and care for obstetric issues.

Abnormalities, Multiple↗
PubMed2002

Urologic injuries associated with repair of anorectal malformations in male patients.

BACKGROUND/PURPOSE: Serious injuries to the urinary tract may occur during the repair of an anorectal malformation, especially in boys. This review of a large series of patients characterizes factors that may either lead to, or prevent, those injuries. METHODS: A retrospective review of 1,003 boys with anorectal malformations was performed. RESULTS: A total of 129 injuries in 1,003 patients were identified. Five hundred seventy-two of the 1,003 patients (group A) underwent definitive repair at the authors' institution. In this group, there were 19 urologic injuries; 1 bladder perforation, 1 divided ureter, 2 divided vas defera, 1 prostatic injury, 7 seminal vesicles were opened and closed, and in 7 cases, the urethra was opened and closed during the repair. Follow-up ranges from 15 years to 1 month and no late sequelae have been observed. The second group (B) consisted of 431 patients who underwent various operations at other institutions. In this group, 110 urologic injuries in 97 patients were noted. These included neurogenic bladder (n = 27), persistent, recurrent or acquired recto-urethral fistulae (n = 30), posterior urethral diverticulae that required reoperation (n = 23), urethral injuries leading to stenosis or acquired atresia (n = 19), pull-through of major urinary structures (n = 2), injured ureter (n = 1), opened seminal vesicle (n = 1), divided vas defera (n = 4), impotence (n = 1), and loss of ejaculation (n = 2). Several significant associations were noted. The most significant was that all 27 patients with neurogenic bladder and all 19 of those in group B with urethral injuries did not undergo a distal colostogram to define the level of the fistula before repair. Posterior urethral diverticulae were seen only in cases of recto-bulbar urethral fistulae repaired via an abdominal-perineal approach. CONCLUSIONS: Significant urologic injuries are associated with the repair of anorectal malformations. The risk of injury is increased in those patients who undergo repair without a distal colostogram.

Adolescent↗
PubMed2002

Rectovaginal fistula: a common diagnostic error with significant consequences in girls with anorectal malformations.

BACKGROUND/PURPOSE: Rectovaginal fistula is a term that continues to be used frequently to describe girls with anorectal malformations. This study attempts to evaluate the true frequency of this anomaly and the consequences of its misdiagnosis. METHODS: A retrospective review of all girls with anorectal malformations treated by the senior author from 1980 through September 2000 was performed, and the pertinent literature was reviewed. RESULTS: Of the 617 patients identified, only 6 were found to have a true rectovaginal fistula, an incidence of 1%. A total of 139 of the 617 patients were referred after a previous repair. Of these, 42 had a diagnosis of recto-vaginal fistula originally. The diagnosis was incorrect in all 42. Twelve patients had a rectovestibular fistula, and 30 had a cloaca. The 30 cloaca patients, because of the misconception that they had a rectovaginal fistula, underwent an initial repair of only the rectal component of the malformation, leaving all patients with a urogenital sinus necessitating a second complete repair. CONCLUSIONS: The use of the term rectovaginal fistula is common, despite a true incidence of 1% in girls with anorectal malformations. The majority of girls will have either a rectovestibular fistula or a cloaca. Such diagnostic errors may lead to the use of inappropriate surgical techniques, incomplete repair, and unnecessary morbidity.

Anal Canal↗