keyword
https://read.qxmd.com/read/38450833/lumbar-syndrome-oeis-complex-overlap-a-case-series-and-review
#1
L Barrios, S Chamlin, Kim M Keppler-Noreuil, K L Rialon, Paul Austin, A Alhajjat, D Bowen, Denise W Metry, D H Siegel
We present three new and six published infants with overlapping features of LUMBAR syndrome (lower body hemangioma, urogenital anomalies, spinal cord malformations, bony deformities, anorectal/arterial anomalies and renal anomalies) and OEIS complex (omphalocele, exstrophy, imperforate anus, and spinal defects), also known as cloacal exstrophy. OEIS is included under the recently proposed umbrella coined recurrent constellations of embryonic malformations (RCEMs). The RCEMs represent a phenotypically overlapping spectrum of rare disorders of caudal dysgenesis with unknown cause but likely shared pathogenesis...
March 7, 2024: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/38412145/cloacal-dysgenesis-sequence-in-a-preterm-neonate
#2
JOURNAL ARTICLE
Alexandra Vacaru, Mitchell M Won, Steven L Raymond, Joshua D Chamberlin, Andrei Radulescu
BACKGROUND Cloaca malformations result from a disproportion of apoptosis, cell growth, and maturation. The range of cloacal malformations is extensive and diverse, with a lack of a straightforward classification system. Cloacal dysgenesis sequence (CDS), also known as urorectal septum malformation sequence, is a rare cloaca variant described as the absence of a perineal orifice. Prenatal magnetic resonance imaging and antenatal ultrasounds may reveal a cloacal malformation; however, many patients are not diagnosed with cloacal malformation until birth...
February 27, 2024: American Journal of Case Reports
https://read.qxmd.com/read/38307106/treatment-of-anorectal-malformations-in-german-hospitals-analysis-of-national-hospital-discharge-data-from-2016-to-2021
#3
JOURNAL ARTICLE
Miriam Wilms, Ekkehart Jenetzky, Stefanie Märzheuser, Reinhard Busse, Ulrike Nimptsch
BACKGROUND:  Anorectal malformations (ARMs) are complex congenital anomalies. The corrective operation is demanding and schedulable. Based on complete national data, patterns of care have not been analyzed in Germany yet. METHODS:  All cases with ARM were analyzed (1) at the time of birth and (2) during the hospital stay for the corrective operation, based on the national hospital discharge data (DRG statistics). Patient's comorbidities, treatment characteristics, hospital structures, and the outcome of corrective operations were analyzed with respect to the hospitals' caseload...
February 29, 2024: European Journal of Pediatric Surgery
https://read.qxmd.com/read/38289920/interposing-rectus-and-gracilis-muscle-flaps-for-pelvic-reconstruction-in-bladder-exstrophy-after-bladder-neck-closure
#4
JOURNAL ARTICLE
Thomas G W Harris, Chad B Crigger, Visakha Suresh, Ahmad Haffar, Tamir N Sholklapper, Isam W Nasr, John P Gearhart, Robin Yang, Richard J Redett
BACKGROUND: The exstrophy-epispadias complex is a spectrum of ventral wall malformations including classic bladder exstrophy (CBE) and cloacal exstrophy (CE). Patients undergo multiple soft-tissues procedures to achieve urinary continence. If unsuccessful bladder neck closure (BNC) is performed, muscle flaps may be used to reinforce BNC or afterwards for fistula reconstruction. In this study, patients reconstructed using a rectus abdominis or gracilis muscle flap were reviewed. METHODS: A retrospective cohort study of exstrophy-epispadias complex patients who underwent BNC and had a muscle fap was performed...
January 30, 2024: Plastic and Reconstructive Surgery
https://read.qxmd.com/read/38216263/syndromic-and-single-gene-disorders-associated-with-fetal-megacystis-i-megacystis-microcolon-intestinal-hypoperistalsis-syndrome-mmihs
#5
REVIEW
Chih-Ping Chen
Fetal megacystis has been reported to be associated with chromosomal abnormalities, megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), obstructive uropathy, prune belly syndrome, cloacal anomalies, limb-body wall complex, amniotic band syndrome, anorectal malformations, VACTERL association (vertebral anomalies, anal atresia, cardiac malformations, tracheo-esophageal fistula, renal anomalies and limb abnormalities) and fetal overgrowth syndrome such as Bechwith-Wiedemann syndrome and Sotos syndrome...
January 2024: Taiwanese Journal of Obstetrics & Gynecology
https://read.qxmd.com/read/38216262/chromosomal-abnormalities-associated-with-fetal-megacystis
#6
REVIEW
Chih-Ping Chen
Fetal megacystis has been reported to be associated with chromosomal abnormalities, megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), obstructive uropathy, prune belly syndrome, cloacal anomalies, limb-body wall complex, amniotic band syndrome, anorectal malformations, VACTERL association (vertebral anomalies, anal atresia, cardiac malformations, tracheo-esophageal fistula, renal anomalies and limb abnormalities) and fetal overgrowth syndrome such as Bechwith-Wiedemann syndrome and Sotos syndrome...
January 2024: Taiwanese Journal of Obstetrics & Gynecology
https://read.qxmd.com/read/38216143/anatomical-variations-of-the-external-genitalia-in-posterior-cloaca-clinical-consequences-of-misdiagnosis-a-systematic-review-of-the-literature-and-the-arm-net-consortium-experience
#7
JOURNAL ARTICLE
Catarina Carvalho, Anna Morandi, Inbal Samuk, Carlos Gine, Ramon Gorter, Maria Jose Martinez-Urrutia, Alejandra Vilanova-Sánchez
PURPOSE: All types of cloacal malformations may be associated with anatomic variations of the external genitalia, including hypoplasia of the labia minora and enlarged clitoris; these variations could be even higher in posterior cloacas (PC). If a careful physical examination is not performed, patients may be misdiagnosed with ambiguous genitalia, leading to subsequent unnecessary testing, surgeries or even wrong gender assignment. The aim was to analyze data of patients with PC within the ARM-Net registry, focusing on the description of the genitalia, gender assignment and its consequences...
January 12, 2024: European Journal of Pediatric Surgery
https://read.qxmd.com/read/38127660/troubleshooting-tips-for-diagnosing-complex-fetal-genitourinary-malformations
#8
JOURNAL ARTICLE
April M Griffith, Paula J Woodward, Anne M Kennedy
Fetal genitourinary anomalies can present a diagnostic challenge for the radiologist. The absence of a normally located kidney may represent agenesis or be secondary to a fusion or migration abnormality. A dilated renal pelvis should prompt evaluation for a specific cause, including ureteropelvic junction obstruction, reflux, or an obstructed duplicated system. Cystic parenchymal changes are characteristic of a multicystic dysplastic kidney but may also be seen in obstructive cystic dysplasia. There are numerous causes of megacystis including chromosomal (trisomy 18 syndrome), obstruction (posterior urethral valves, urethral atresia), or muscular dysfunction (prune belly syndrome, megacystis microcolon intestinal hypoperistalsis syndrome)...
January 2024: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://read.qxmd.com/read/38042687/how-we-select-our-surgical-approach-for-cloacal-reconstruction
#9
JOURNAL ARTICLE
Briony K Varda, Marc A Levitt
During cloacal reconstruction, we consider both common channel (CC) and urethral length when deciding between total urogenital mobilization (TUM) and a urogenital separation (UGS). Our concern about TUM in the case of a short urethra is resultant bladder neck incompetence, while conversion to UGS after completing the TUM dissection may result in urethral injury. Use of an interposition flap harvested from the ischiorectal fossa is another measure we use to prevent potential complications.
November 18, 2023: Journal of Pediatric Urology
https://read.qxmd.com/read/38038828/hydrometrocolpos-a-contemporary-review-of-the-last-5-years
#10
REVIEW
Allison Grant, Christina P Carpenter, Belinda Li, Soo Jeong Kim
PURPOSE OF REVIEW: The goal of this review is to provide a comprehensive overview of hydrometrocolpos, covering disease etiology, pathophysiology, clinical presentation, and diagnostic and management techniques, and known outcomes. RECENT FINDINGS: This narrative review presents the literature on hydrometrocolpos in the pediatric population from the past 5 years. We highlight the 69 reported cases of hydrometrocolpos and classify them based on type of obstruction or associated anomaly, discuss new diagnostic algorithms based on imaging, and present novel and underutilized surgical techniques for definitive management...
December 1, 2023: Current Urology Reports
https://read.qxmd.com/read/37971531/fetal-ascites-in-cloacal-malformations-a-red-flag
#11
JOURNAL ARTICLE
Sherif Abdelmaksoud, Sara Lobo, Alexander Cho, Anand Upasani, Simon Blackburn, Joe Curry, Brian Davies, Ruppert Martin, Gunter De Win, Abraham Cherian
INTRODUCTION: Cloacal malformation is a rare anomaly that remains a diagnostic challenge prenatally, despite the current advances in ultrasonography and MRI. This condition can in some, present with isolated ascites or with other findings, such as a pelvic cyst or upper urinary tract dilatation. In a minority, the ascites may be progressive, questioning the role of antenatal intervention. METHODS: We report on ten patients that have been identified from our Cloaca database between 2010 and 2022...
November 16, 2023: Pediatric Surgery International
https://read.qxmd.com/read/37968156/outcomes-from-colonic-pull-through-for-cloacal-exstrophy-differ-by-colon-length-a-multi-institutional-study
#12
JOURNAL ARTICLE
Shruthi Srinivas, Maria E Knaus, Jeffrey R Avansino, Andrea Badillo, Casey M Calkins, Belinda H Dickie, Megan M Durham, Megan K Fuller, Matthew W Ralls, Ron W Reeder, Rebecca M Rentea, Michael D Rollins, Kathleen van Leeuwen, Richard J Wood
BACKGROUND: Cloacal exstrophy (CE) represents a rare sub-group of anorectal malformations. Traditionally managed with a permanent colostomy, colonic pull-through (PT) has emerged to allow cleanliness without a life-long stoma. We sought to understand outcomes of PT in a large multi-center CE population. METHODS: We performed a retrospective study involving eleven pediatric hospitals. We gathered data on demographics, outcomes, and anatomical factors including colon length...
October 21, 2023: Journal of Pediatric Surgery
https://read.qxmd.com/read/37842406/bladder-agenesis-a-systematic-review
#13
REVIEW
Majd H Yahya
Bladder agenesis is a rare congenital deformity characterized by the absence of the bladder. It is primarily observed in postmortem dissections of stillbirths rather than live births. The condition is often associated with other congenital anomalies, leading to the hypothesis that most affected fetuses do not survive to term. However, the exact cause and specific associated anomalies remain unclear and poorly described in the literature. The limited mention of bladder agenesis in textbooks and literature underscores the importance of creating a comprehensive source for future research in this field...
September 2023: Curēus
https://read.qxmd.com/read/37838618/long-term-management-of-problems-in-cloacal-exstrophy-a-single-institution-review
#14
JOURNAL ARTICLE
Nora M Haney, Christian C Morrill, Ahmad Haffar, Chad Crigger, Andrew T Gabrielson, Logan Galansky, John P Gearhart
INTRODUCTION: Cloacal exstrophy (CE) is the most severe malformation of the exstrophy-epispadias complex. This study aims to discuss long-term sequela in a single major institution with a high volume of CE patients. MATERIALS AND METHODS: A prospectively maintained database of 1490 patients on the exstrophy epispadias spectrum (145 cloacal exstrophy) from 1974 to 2023. The patient database was reviewed for CE patients >10 years of age for genitourinary, gastrointestinal, orthopedic, and psychosocial outcomes...
September 22, 2023: Journal of Pediatric Surgery
https://read.qxmd.com/read/37777168/anatomical-gynecological-anomalies-in-girls-born-with-anorectal-malformations-a-retrospective-cohort-study-of-128-patients
#15
JOURNAL ARTICLE
Cunera M C de Beaufort, Isabelle N Hooijer, Caroline F Kuijper, Olga E Arguedas Flores, Justin R de Jong, Emmy van den Boogaard, Judith J M L Dekker, Ramon R Gorter
STUDY OBJECTIVE: In girls born with an anorectal malformation (ARM), anatomical gynecological anomalies (GA) may be present and might need treatment. Therefore, the aim of this study was to provide an overview on GA in girls born with ARM in our cohort. Additionally, diagnostic timing and methods for GA were assessed. METHODS: A retrospective mono-center study was performed from January 2000 to December 2022. All patients assigned female at birth were eligible for inclusion...
September 28, 2023: Journal of Pediatric and Adolescent Gynecology
https://read.qxmd.com/read/37771145/urorectal-septum-malformation-sequence-with-retroperitoneal-neuroblastoma-a-case-report-of-an-unusual-association
#16
JOURNAL ARTICLE
Immanuel Pradeep, Naina Kumar, Poojitha Kalyani, Jitendra Singh Nigam, Shrinivas Bheemrao Somalwar, Annapurna Srirambhatla, Ashutosh Rath
Urorectal septum malformation sequence (URSMS) is an uncommon disease characterized by a failure of the anorectal septum to divide the cloaca and fuse with the cloacal membrane. Complete URSMS is usually lethal in newborn due to severe renal dysfunction and pulmonary hypoplasia. Partial URSMS is compatible with life with a single perineal opening draining a common cloaca with an imperforate anus which amenable to surgical management. Antenatal diagnosis of URSMS is challenging because of multisystem, complex abnormalities involving gastrointestinal, urogenital tract, cardiovascular, and musculoskeletal systems...
2024: Pediatric and Developmental Pathology
https://read.qxmd.com/read/37690871/sexual-and-reproductive-health-concerns-in-adults-with-cloacal-anomalies-a-qualitative-study
#17
JOURNAL ARTICLE
Lissa X Yu, Michelle McGowan, Kara Bendle, Chelsea Mullins, Tara Streich-Tilles, Lesley L Breech
STUDY OBJECTIVE: Long-term gynecologic data are lacking to inform the care of patients with cloacal malformations. We seek to examine perceived sexual and reproductive health challenges of patients born with cloacal anomalies and characterize the experiences of patients as adults. DESIGN AND SETTING: Virtual semi-structured focus groups and single-participant interviews were conducted using an online video platform. Retrospective chart review was performed to abstract available demographics and surgical history...
August 21, 2023: Journal of Pediatric Surgery
https://read.qxmd.com/read/37584865/long-term-urological-outcome-of-cloaca-patients-with-multidisciplinary-management
#18
JOURNAL ARTICLE
C Pellegrino, M Agamennone, B D Iacobelli, B Turchi, M L Capitanucci, F Beati, V Forlini, M L Sollini, C E Marras, G Esposito, P Palma, G Della Bella, R D'Urzo, T Caldaro, E Castelli, A Conforti, P Bagolan, G Mosiello
PURPOSE: Urological management of Cloacal Malformation (CM) focuses on preserving renal function and continence. Study aim was to analyze urinary and intestinal outcomes in CM patients, considering the length of common channel (CC) and presence of occult spinal dysraphism (OSD). METHODS: Retrospective review of CM treated at our institution by a multidisciplinary team from 1999 to 2020. Patients with follow-up < 2.5 years were excluded. Length of CC, renal function, urinary and bowel outcomes, presence of associated anomalies (especially OSD) were evaluated...
August 16, 2023: Pediatric Surgery International
https://read.qxmd.com/read/37391334/commentary-to-partial-urogenital-mobilization-in-cloacal-malformation-is-it-a-viable-option
#19
JOURNAL ARTICLE
Kelly T Harris, Duncan T Wilcox
No abstract text is available yet for this article.
June 16, 2023: Journal of Pediatric Urology
https://read.qxmd.com/read/37385703/exstrophy-epispadias-complex
#20
REVIEW
Ted Lee, Joseph Borer
Exstrophy-epispadias complex encompasses a spectrum of disorders with lower abdominal midline malformations, including epispadias, bladder exstrophy, and cloacal exstrophy, also known as Omphalocele-Exstrophy-Imperforate Anus-Spinal Anomalies Complex. In this review, the authors discuss the epidemiology, embryologic cause, prenatal findings, phenotypic characteristics, and management strategies of these 3 conditions. The primary focus is to summarize outcomes pertaining to each condition.
August 2023: Urologic Clinics of North America
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