keyword
https://read.qxmd.com/read/38160189/comparing-consistency-and-usability-of-common-bowel-function-scoring-systems-in-anorectal-malformation-patients
#21
JOURNAL ARTICLE
Mohd Khairulanuar Shaari, Yew-Wei Tan, Mohd Yusof Abdullah, Mohd Fauzi Sharudin, Marjmin Osman, Tammy Han Qi Teoh, Chien Joo Lim, Shireen Anne Nah
BACKGROUND: Assessment of postoperative bowel function in anorectal malformation (ARM) patients is crucial for benchmarking outcomes. We compared existing bowel function scoring systems in various aspects in patients with ARM. METHODS: With ethical approval, this was a cross-sectional study involving 5 paediatric surgery referral centres in Malaysia, comparing the Kelly, Japanese Study Group of Anorectal Anomalies (JSGA), Holschneider and Krickenbeck bowel function questionnaires...
December 7, 2023: Journal of Pediatric Surgery
https://read.qxmd.com/read/38122961/obstructed-hemi-vagina-and-renal-anomalies-in-patients-with-and-without-anorectal-malformations
#22
JOURNAL ARTICLE
Elizabeth C Clain, Kellie Woodfield, Kendra J Hutchens, Andrea Bischoff, Veronica I Alaniz
STUDY OBJECTIVE: To compare the anatomic variation between patients with a diagnosis of obstructed hemivagina with an anorectal malformation (ARM) and those without ARM. METHODS: This was a retrospective chart review conducted at a single tertiary Children's Hospital. Patients with an obstructed hemivagina seen from 2004 to 2019 were included. RESULTS: We identified a total of 9 patients diagnosed with obstructed hemivagina: 4 patients with history of ARM and 5 patients without ARM...
December 18, 2023: Journal of Pediatric and Adolescent Gynecology
https://read.qxmd.com/read/38111278/nationwide-long-term-growth-and-developmental-outcomes-of-infants-for-congenital-anomalies-in-the-digestive-system-and-abdominal-wall-defects-with-surgery-in-korea
#23
JOURNAL ARTICLE
Soon Min Lee, Jin A Lee, Sung-Hoon Chung, Jang Hoon Lee, Jae Won Shim, Jae Woo Lim, Chang-Ryul Kim, Yun Sil Chang
BACKGROUND: Infants with congenital anomalies of the digestive system and abdominal wall defects requiring surgery are at risk of growth and developmental delays. The aim of this study was to analyze long-term growth and developmental outcomes for infants with congenital anomalies of the digestive system and abdominal wall defects who underwent surgery in Korea. METHODS: We extracted data from the Korean National Health Insurance Service database for the years 2013-2019...
December 18, 2023: Journal of Korean Medical Science
https://read.qxmd.com/read/38060757/gray-platelet-syndrome-in-a-neonate-with-vacterl-association-a-novel-homozygous-pathogenic-variant-c-5257c-t-in-the-nbeal2-gene
#24
Badriah G Alasmari, Syed Rayees, Sami Althubaiti, Lina Elzubair, Safa Chendeb
Gray platelet syndrome is a rare hereditary autosomal recessive condition distinguished by a mild to moderate propensity toward bleeding, moderate reduction in platelet count, and a significant decrease or complete absence of platelet alpha granules. VACTERL association is a condition of specific birth defects affecting multiple organ systems, with an unknown etiology. The acronym stands for vertebral anomalies (V), anal anomalies (A), cardiac anomalies (C), tracheoesophageal fistula (TE), renal anomalies or radial bone anomalies (R), and limb defects (L)...
November 2023: Curēus
https://read.qxmd.com/read/38016642/perioperative-histologically-controlled-fistula-resection-in-patients-with-imperforate-anus-and-perineal-fistula
#25
JOURNAL ARTICLE
Richard Skaba, Vojtech Dotlacil, Pavla Fuccillo, Blanka Rouskova, Lucie Pos, Michal Rygl
INTRODUCTION:  Postoperative constipation (PC) in patients with imperforate anus and perineal fistula (PF) has been reported in up to 60%. Histological studies of PF revealed innervation anomalies which seem to be one of the reasons for PC. Perioperative histologically controlled fistula resection (PHCFR) allows appropriate resection of PF and pull-down normoganglionic rectum at the time of posterior sagittal anorectoplasty (PSARP). MATERIALS AND METHODS:  A total of 665 patients with anorectal malformations underwent surgery between 1991 and 2021...
November 28, 2023: European Journal of Pediatric Surgery
https://read.qxmd.com/read/38001547/caudal-regression-syndrome-type-1-with-minimally-invasive-computed-tomography-and-magnetic-resonance-imaging-autopsy-a-case-report
#26
JOURNAL ARTICLE
Mira Ayoub, Chanae Dixon, Sharon E Byrd, Rakhee M Bowker
BACKGROUND: Caudal regression syndrome is a rare complex congenital anomaly with reduced penetrance and phenotypic variability characterized by osseous defects of the caudal spine, lower limb anomalies, and accompanying genitourinary, gastrointestinal/anorectal, and cardiac system soft tissue defects. We report a rare presentation of type 1 caudal regression syndrome in a pregnant woman with preexisting diabetes, in which early recognition of severe fetal anomalies on routine antenatal ultrasound facilitated confirmation with fetal magnetic resonance imaging to characterize extent of disease and prognosticate fetal outcome...
November 25, 2023: Journal of Medical Case Reports
https://read.qxmd.com/read/37989645/rectovaginal-fistulas-comparative-analysis-of-laparoscopic-assisted-pullthrough-and-posterior-sagittal-anorectoplasty
#27
JOURNAL ARTICLE
Maria Marcela Bailez, Paula Lorena Roumieu, Lucila Alvarez, Vanesa Martinez, Victor Pedro Dibenedetto
AIM: Compare the laparoscopic treatment (LT) and the posterior sagittal anorectoplasty treatment (ST) of the rectovaginal fistulas (RvaF) in a single center. We have previously reported feasibility and results of LT in this rare variety of anorectal malformations (ARM) [1-3]. MATERIAL AND METHODS: 19 patients were treated between February 2000 and November 2020. Nine underwent a LT and 10 a ST. Both surgical techniques were previously described. [2][4][5] The distal posterior wall of the vagina was kept intact in the LT...
October 28, 2023: Journal of Pediatric Surgery
https://read.qxmd.com/read/37988823/anorectal-malformations-in-low-and-middle-income-countries-spectrum-burden-and-management
#28
JOURNAL ARTICLE
Shilpa Sharma, Dennis Mazingi, Sharif Imam, Tanvir Kabir Chowdhury, Lily J Saldaña, Noxolo Z Mashavave, Maricarmen Olivos, Tameem Shafayat Chowdhury, Mozammel Hoque, Catalina Correa, Tahmina Banu
The clinical presentation, diagnosis and management of anorectal malformation has been well described in the literature, however the experience with these conditions in low-and middle-income countries is often shaped in unique ways due to the social, cultural and economic factors at work in these regions. This leads to adaptation of modifications in management options for these babies that usually present as delayed cases with added poor prognostic factors like sepsis leading to need for emergency resuscitation and overall increased morbidity and mortality...
December 2023: Seminars in Pediatric Surgery
https://read.qxmd.com/read/37968156/outcomes-from-colonic-pull-through-for-cloacal-exstrophy-differ-by-colon-length-a-multi-institutional-study
#29
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/37965387/obstructive-uropathy-caused-by-massive-fecal-impaction-in-a-patient-with-congenital-anorectal-malformation-and-neurogenic-bladder
#30
Soo Jin Lee, Seok Young Cho, Wonkyo Yi, Kyung Pyo Kang
Anorectal malformations (ARMs) comprise a broad spectrum of congenital anomalies involving both anorectal and urogenital tracts. After diagnosis, urological problems should be evaluated in addition to surgical correction of ARMs. Commonly encountered urological problems in patients with ARMs are recurrent urinary tract infections, vesicoureteral reflux, and chronic kidney disease. Therefore, the proper timing of urination and appropriate defecation habits are essential for preserving renal function in patients with ARMs...
October 2023: Curēus
https://read.qxmd.com/read/37927489/pigo-cdg-a-case-study-with-a-new-genotype-expansion-of-the-phenotype-literature-review-and-nosological-considerations
#31
Rodrigo Tzovenos Starosta, Nino Kerashvili, Cassandra Pruitt, Matthew J Schultz, Suzanne W Boyer, Eva Morava, Maria Laura Duque Lasio, Dorothy K Grange
The phosphatidylinositol glycan anchor biosynthesis class O protein (PIGO) enzyme is an important step in the biosynthesis of glycosylphosphatidylinositol (GPI), which is essential for the membrane anchoring of several proteins. Bi-allelic pathogenic variants in PIGO lead to a congenital disorder of glycosylation (CDG) characterized by global developmental delay, an increase in serum alkaline phosphatase levels, congenital anomalies including anorectal, genitourinary, and limb malformations in most patients; this phenotype has been alternately called "Mabry syndrome" or "hyperphosphatasia with impaired intellectual development syndrome 2...
November 2023: JIMD Reports
https://read.qxmd.com/read/37889354/potential-benefits-of-routine-cystoscopy-and-vaginoscopy-prior-to-reconstructive-surgery-in-patients-with-an-anorectal-malformation
#32
JOURNAL ARTICLE
Cunera M C de Beaufort, Daphne T Boom, Tara M Mackay, Judith J M L Dekker, Olga E Arguedas Flores, Justin R de Jong, Caroline F Kuijper, Ramon R Gorter
PURPOSE: First, to assess the number of patients with anorectal malformations (ARM) in whom additional urological and/or gynecological anomalies were identified through routine screening with cysto- or vaginoscopy prior to reconstructive surgery. Second, to assess potential procedure-related complications. METHODS: Retrospective mono-center cohort study, including all ARM patients born between January 2019 and December 2022. Routine screening consisted of cystoscopy for male patients, with the addition of vaginoscopy for female patients...
October 27, 2023: Pediatric Surgery International
https://read.qxmd.com/read/37879314/fetal-inguinal-hernia-case-report-and-review-of-the-literature
#33
REVIEW
Gad Liberty, Firas Shweiki, Adriana Nica, Eyal Y Anteby, Sarah M Cohen, Simcha Yagel
Fetal inguinal hernia (FIH) is a rare event, and only a few cases were published in the medical literature. In the present study, we aimed to characterize the sonographic features, clinical presentation, management, outcomes, and differential diagnoses of FIH. Accordingly, we reviewed all 17 cases of FIH published in the medical literature, including one new case evaluated by our group. All 17 cases (100%) were male, and FIH presented as a scrotal mass with a mean diameter of 38±9.5 mm. The right side was dominant (62%)...
October 25, 2023: Fetal Diagnosis and Therapy
https://read.qxmd.com/read/37822287/substantial-incidence-of-bladder-dysfunction-in-patients-with-vacterl-association-implications-for-surveillance
#34
JOURNAL ARTICLE
Adriana Gomes, Laura Forero Zapata, Carolina I Galarreta, Riley Henderson, Erin Hoyt, Steven Swee, Lynne Bird
VACTERL association is defined as the nonrandom co-occurrence of a minimum of three of the following six key components: Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, and Limb abnormalities. Patients presenting with two components may also belong in the same spectrum. Additional components have been associated with VACTERL defects, including single umbilical artery, tethered spinal cord (TSC), and genital malformations. We observed a significant proportion of patients with bladder dysfunction (often called neurogenic bladder in the medical record) when reviewing a cohort of patients with VACTERL defects at our clinical center...
October 12, 2023: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/37816608/novel-inherited-cdx2-variant-segregating-in-a-family-with-diverse-congenital-malformations-of-the-genitourinary-system
#35
JOURNAL ARTICLE
Swetha Ramadesikan, Caitlyn M Colwell, Rachel Supinger, Jesse Hunter, Jessica Thomas, Elizabeth Varga, Elaine R Mardis, Richard J Wood, Daniel C Koboldt
Anorectal malformations (ARM) constitute a group of congenital defects of the gastrointestinal and urogenital systems. They affect males and females, with an estimated worldwide prevalence of 1 in 5,000 live births. These malformations are clinically heterogeneous and can be part of a syndromic presentation (Syndromic ARM) or as a non-syndromic entity (Non-syndromic ARM). Despite the well-recognized heritability of non-syndromic ARM, the genetic etiology in most patients is unknown. In this study, we describe three siblings with diverse congenital anomalies of the genitourinary system, anemia, delayed milestones, and skeletal anomalies...
October 10, 2023: Cold Spring Harbor Molecular Case Studies
https://read.qxmd.com/read/37808576/multidisciplinary-strategies-for-managing-acute-watery-diarrhea-in-children-with-congenital-anorectal-malformation-and-colostomy-a-case-study
#36
Mohammad Ashraful Amin, Ridwana Maher Manna, Sabrina Nahin, Mohammad Delwer Hossain Hawlader
Congenital anorectal malformation (ARM) is a diverse group of anomalies affecting the development of the anal and rectal regions, with an estimated incidence of one in every 5000 live births. The colostomy is commonly performed as part of the staged management of children with ARM to prevent complications. However, the presence of acute watery diarrhea in children with ARM and colostomy poses significant management challenges due to the altered anatomy and physiology affecting stool regulation and absorption, exacerbated by various factors including infections, dietary issues, medication side effects, and underlying gastrointestinal complications...
October 2023: Clinical Case Reports
https://read.qxmd.com/read/37777986/erudition-from-primary-posterior-sagittal-anorectoplasty-for-anorectal-malformations-over-two-decades
#37
JOURNAL ARTICLE
Shilpa Sharma
PURPOSE: Perioperative and early post-operative outcomes of Primary Posterior sagittal anorectoplasty (P-PSARP) were evaluated. METHOD: Retrospective analysis of cases who underwent P-PSARP from 2004 to 2019 was done. Perioperative care, management, complications, voluntary bowel movement, soiling and constipation, graded by Krickenbeck criteria were studied. RESULTS: One hundred fifty six patients (134 girls) underwent P-PSARP at median age of 5 months (3 months to 14 years) in girls and 5(1-10) days in 21 boys...
October 1, 2023: Pediatric Surgery International
https://read.qxmd.com/read/37777168/anatomical-gynecological-anomalies-in-girls-born-with-anorectal-malformations-a-retrospective-cohort-study-of-128-patients
#38
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
#39
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/37753130/the-management-of-pyromelic-polymelia-in-a-low-resource-setting-a-case-report
#40
Dominic Konadu-Yeboah, Johnny Sobotie, Samuel Twene Boadi, Ebenezer Akomea-Agyin, Anthony Davor, Helena Okrah
INTRODUCTION: Polymelia is the presence of supernumerary limbs attached to a segment of the body. It occurs in about 6/10,000 live births with 1.1/10,000 cases involving the lower limbs. It has a heterogeneous pathogenesis including incomplete separation of monozygotic twins. CASE REPORT: A 5-month-old baby with polymelia associated with ectopic right kidney, anorectal agenesis with a rectovaginal fistula, and right corneal opacity, delivered through cesarean section at 37 weeks, 3-day gestation to a 38-year-old mother...
September 2023: Journal of Orthopaedic Case Reports
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