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Taiwanese Journal of Obstetrics &... Jan 2024Fetal megacystis has been reported to be associated with chromosomal abnormalities, megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), obstructive... (Review)
Review
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. This review provides an overview of chromosomal abnormalities associated with fetal megacystis which is useful for genetic counseling and fetal therapy at prenatal diagnosis of fetal megacystis.
Topics: Pregnancy; Infant, Newborn; Female; Humans; Diabetes, Gestational; Fetal Macrosomia; Abnormalities, Multiple; Chromosome Aberrations; Urinary Bladder; Duodenum; Fetal Diseases
PubMed: 38216262
DOI: 10.1016/j.tjog.2023.11.006 -
The British Journal of Surgery Jan 2024
Review
Topics: Humans; Anal Canal; Anorectal Malformations; Registries; Retrospective Studies
PubMed: 38364059
DOI: 10.1093/bjs/znae019 -
Orphanet Journal of Rare Diseases Sep 2023Klippel-Trénaunay syndrome is typically a complex combined capillary-lymphatic-venous malformation in lower limb. Gastrointestinal involvement is not infrequent in... (Review)
Review
Klippel-Trénaunay syndrome is typically a complex combined capillary-lymphatic-venous malformation in lower limb. Gastrointestinal involvement is not infrequent in Klippel-Trénaunay syndrome. Rectal bleeding is the most common complication. In recent years, this condition has been increasingly reported. However, most authors simply described extreme manifestations or various combinations of clinical observations. The underlying pathophysiology of gastrointestinal involvement in Klippel-Trénaunay syndrome has been underrecognized. Pathophysiologically, some seemingly adequate managements are pitfalls in treatment. Anorectosigmoid vascular malformations in KTS have distinct and more complicated pathophysiologies than anorectal vascular malformation. Once understanding the pathophysiology, some patients can be successfully managed with a staged plan in our practice. Therefore, recognizing the pathophysiologies of gastrointestinal involvement is needed to evaluate, prevent pitfalls, and determine adequate managements for practitioners. Because of the complexity and rarity of this condition, prospective controlled study or a large cohort of patients is impossible. Based on literature review and our practice, we discuss pathophysiologies, evaluation, pitfalls, and treatment strategies for gastrointestinal involvement in Klippel-Trénaunay syndrome.
Topics: Humans; Klippel-Trenaunay-Weber Syndrome; Prospective Studies; Anorectal Malformations; Lymphatic Vessels
PubMed: 37700367
DOI: 10.1186/s13023-023-02857-5 -
Seminars in Pediatric Surgery Dec 2023The clinical presentation, diagnosis and management of anorectal malformation has been well described in the literature, however the experience with these conditions in...
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. This article explores the anomaly from a global surgery lens and outlines the spectrum of the anomaly, burden faced in the resource constrained environment and the management options adopted for successful management under the available circumstances.
Topics: Humans; Anorectal Malformations; Developing Countries
PubMed: 37988823
DOI: 10.1016/j.sempedsurg.2023.151349 -
Pediatric Surgery International Jul 2023Anorectal malformation (ARM) is often associated to other congenital malformations, requiring a tailored management. Hypospadias' treatment in ARM is poorly described.... (Review)
Review
Anorectal malformation (ARM) is often associated to other congenital malformations, requiring a tailored management. Hypospadias' treatment in ARM is poorly described. Aim of study is to describe our experience in ARM-hypospadias patients especially in relation to occult spinal dysraphism (OSD). ARM patients treated from 1999 to 2022 were retrospectively reviewed, selecting male with hypospadias. Clinical data, hypospadias's severity, ARM sub-type (Group A: perineal fistula; Group B: urethral fistula, bladder fistula, no fistula), OSD, other associated malformations, NLUTD were evaluated. Exclusion criteria: uncomplete data. Among 395 ARMs, 222 were males, 22 (10%) had hypospadias. Two patients were excluded. Group A: 8 patients, Group-B: 12. Hypospadias: proximal 9 patients, distal 11. Neuro-urological evaluation was performed before hypospadias repair. Eleven patients (55%) had OSD. Four OSD patients presented NLUTD and underwent detethering and CIC (two via cystostomy button, two via appendicostomy); two of them had hypospadias repaired. All proximal hypospadias underwent two stages of surgery. Distal hypospadias was corrected in 4/11 cases. Hypospadias is quite common in ARM patients and its surgical management must be scheduled considering the possible OSD and NLUTD, with the possible need for intermittent catheterization. Complexity of ARM and hypospadias appears to be related to each other.
Topics: Humans; Child; Male; Female; Hypospadias; Anorectal Malformations; Retrospective Studies; Urethra; Neural Tube Defects; Urinary Fistula
PubMed: 37410181
DOI: 10.1007/s00383-023-05505-y -
Journal of Pediatric Surgery Aug 2023The goal of this study was to evaluate outcomes in patients treated with sacral nerve stimulation (SNS) for medically refractory fecal incontinence or severe...
INTRODUCTION
The goal of this study was to evaluate outcomes in patients treated with sacral nerve stimulation (SNS) for medically refractory fecal incontinence or severe constipation.
METHODS
We performed a retrospective cohort study of all patients treated with SNS after failed medical management at a single center between 9/1/2015 and 6/30/2022. Demographic and clinical data was extracted from the electronic medical record. Rates of involuntary bowel movements were evaluated using a bowel severity score questionnaire and compared pre- and post-SNS using McNemar and McNemar-Bowker tests.
RESULTS
70 patients underwent SNS placement. The median age was 12.8 years (IQR 8.6-16.0) and 61.4% were male. The most common diagnosis was idiopathic constipation (67.1%), followed by anorectal malformation (15.7%), and others. 43 patients had severity scores recorded both pre- and at least 90 days post-SNS insertion. The rates of daytime and nighttime involuntary bowel movements were significantly different pre-compared to post-SNS placement (p = 0.038 and p = 0.049, respectively). The rate of daytime and nighttime fecal continence increased from 44% to 58.1% and 53.5%-83.7%, respectively. The rate of at least weekly daytime and nighttime fecal incontinence decreased from 48.8% to 18.7% and 34.9%-7.0%, respectively. Minor pain/neurological symptoms occurred in 40% of patients, while 5.7% developed a wound infection. Further surgery for the SNS was required in 40% of patients.
CONCLUSIONS
SNS placement can be an effective treatment for medically refractory fecal incontinence. Minor complications and the need for further procedures are common, while more serious complications like wound infections are rare.
TYPE OF STUDY
Retrospective Cohort Study.
LEVEL OF EVIDENCE
Level 3.
Topics: Humans; Male; Child; Female; Fecal Incontinence; Retrospective Studies; Electric Stimulation Therapy; Spinal Nerves; Treatment Outcome; Constipation; Pain; Lumbosacral Plexus; Quality of Life
PubMed: 37221127
DOI: 10.1016/j.jpedsurg.2023.04.007 -
Pediatric Surgery International Apr 2024Assess long-term quality of life (QoL), bowel and voiding function in anorectal malformation (ARM) paediatric patients.
AIMS
Assess long-term quality of life (QoL), bowel and voiding function in anorectal malformation (ARM) paediatric patients.
METHOD
Retrospective review of ARM patients between 2007 and 2020 was performed. QoL (all patients), bowel and voiding function (> 5 yo) were assessed using the paediatric quality of life inventory (PedsQL), paediatric incontinence and constipation score (PICS) and dysfunctional voiding scoring system (DVSS), respectively.
RESULTS
There were 122 patients (49% female, 85 > 5 yo) with ARM. Two had died, four refused, twenty-two were non-contactable, leaving ninety-four patients (65 > 5 yo) included. Mean age was 89 months (19-183), and follow-up was 86 months (13-183). Patients had significantly poorer scores for QoL, bowel and voiding function compared to published healthy controls. 57% had poor bowel function, 32% had poor voiding function and 38% required 'ancillary aids' to facilitate function. Patients using 'ancillary aids' for voiding function had a significantly lower QoL (parent: 62 vs 77; p = 0.01, patient: 66 vs 79; p = 0.05). Bowel continence was worse in those with high vs low ARM (13 vs 20, p = 0.004) and timely vs delayed diagnosis (17 vs 24, p = 0.04).
CONCLUSION
Patients with ARM have significantly worse QoL, bowel and voiding function than normal healthy controls. There is a need for long-term monitoring of function and further support for these children.
LEVEL OF EVIDENCE
III.
Topics: Humans; Child; Female; Male; Anorectal Malformations; Quality of Life; Intestines; Constipation; United Kingdom; Fecal Incontinence
PubMed: 38565744
DOI: 10.1007/s00383-024-05684-2 -
Pediatric Surgery International Nov 2023Children with Hirschsprung's disease (HD) and anorectal malformations (ARM) may benefit from a bowel management program (BMP) to treat constipation and fecal...
PURPOSE
Children with Hirschsprung's disease (HD) and anorectal malformations (ARM) may benefit from a bowel management program (BMP) to treat constipation and fecal incontinence. This study describes a pilot BMP in Uganda.
METHODS
Patients treated for HD or ARM were recruited for the BMP. Local staff underwent training and progressively took over decision-making. The rates of patient involuntary bowel movements (IBMs) and provider confidence were evaluated pre- and post-BMP with questionnaires. The results were compared with Fischer's exact test.
RESULTS
Ten staff-2 surgeons, 6 nurses and 2 physiotherapists-and 12 patients participated. Patient median age was 4.5 years (IQR 3-6.6) and ten were male. Ten reported at least daily IBMs prior to the BMP. All patients underwent a clean-out. The parents were then taught to perform daily enemas or irrigations. Specific regimens were determined by patient history and imaging and titrated throughout the BMP. There were differences in the rates of both daytime and nighttime IBMs before and after the BMP (p = 0.0001 and 0.002, respectively). All staff reported increased confidence.
CONCLUSIONS
We describe the first BMP in Uganda. BMPs can successfully treat constipation and fecal incontinence in low-income countries, although there are challenges with resources and follow-up.
Topics: Child; Humans; Male; Child, Preschool; Female; Fecal Incontinence; Uganda; Constipation; Defecation; Hirschsprung Disease; Anorectal Malformations; Hospitals
PubMed: 37962686
DOI: 10.1007/s00383-023-05574-z -
Journal of Pediatric Surgery Jun 2024The literature on transitional care in anorectal malformation (ARM) and Hirschsprung's disease (HD) is diverse and heterogeneous. There is a lack of standards and...
BACKGROUND
The literature on transitional care in anorectal malformation (ARM) and Hirschsprung's disease (HD) is diverse and heterogeneous. There is a lack of standards and guidelines specific to transitional care in these conditions. We aim to establish and systematically categorize challenges and solutions related to colorectal transition care.
METHODS
Systematic review of qualitative studies from MEDLINE, EMBASE, PubMed and Scopus databases (2008-2022) was conducted to identify the challenges and solutions of healthcare transition specific to ARM and HD. Thematic analyses are reported with reference to patient, healthcare provider and healthcare system.
RESULTS
Sixteen studies from 234 unique articles were included. Fourteen themes related to challenges and solutions, each, are identified. Most challenges identified are patient related. The key challenges pertain to: (1) patient's lack of understanding of their disorder, resulting in over-reliance on the pediatric surgical team and reluctance towards transitioning to adult services; (2) a lack of education and awareness among adult colorectal surgeons in caring for pediatric colorectal conditions and inadequate communication between pediatric and adult teams; and (3) a lack of structured transition program and joint-clinic to meet the needs of the transitioning patients. The key solutions are: (1) fostering young adult patient's autonomy and independence; (2) conducting joint pediatric-adult transition clinics; and (3) ensuring a structured and coordinated transition program is available using a standardized guideline.
CONCLUSION
A comprehensive framework related to barriers and solutions for pediatric colorectal transition is established to help benchmark care quality of transitional care services.
LEVEL OF EVIDENCE
IV.
TYPE OF STUDY
Systematic review without meta-analysis.
Topics: Humans; Hirschsprung Disease; Anorectal Malformations; Transition to Adult Care
PubMed: 37996349
DOI: 10.1016/j.jpedsurg.2023.10.066 -
Techniques in Coloproctology Oct 2023This study used a network meta-analysis to evaluate the efficacy and safety of different surgical approaches in patients with hemorrhoids. (Meta-Analysis)
Meta-Analysis Review
PURPOSE
This study used a network meta-analysis to evaluate the efficacy and safety of different surgical approaches in patients with hemorrhoids.
METHODS
PubMed, Embase, Web of science, and Cochrane Library were searched for randomized controlled trials on patients with hemorrhoids treated by different surgical procedures. The search was conducted until January 15, 2023. Two investigators independently screened the resulting literature, extracted information, evaluated the risk of bias of the included studies, and performed a network meta-analysis.
RESULT
A total of 23 randomized controlled studies were included and involved 3573 patients and 10 interventions, namely L (Ligasure), M-M (Milligan-Morgan), F (Ferguson), H (Harmonic), OH (open Harmonic), CH (closed Harmonic), PPH (procedure for prolapse and hemorrhoids), TST (tissue selecting technique), T-S (TST STARE+; tissue selection therapy stapled transanal rectal resection plus), and STARR (stapled transanal rectal resection). Network meta-analysis results showed that L has the shortest mean operating time and STARR has the longest mean operating time, F and H have the longest length of hospitalization and T-S has the shortest length of hospitalization, PPH has the most intraoperative blood loss and L has the least intraoperative blood loss, TST has the shortest time to first defecation and M-M has the longest time to first defecation, STARR had the least recurrence and PPH had the most recurrence, PPH had the least anal stenosis and L had the most anal stenosis, and F had the least postoperative pain after 24 h and PPH had the most postoperative pain after 24 h.
CONCLUSION
Current evidence suggests that L is best at reducing mean operative time and intraoperative bleeding, T-S is best at reducing mean length of stay, TST has the shortest time to first defecation, STARR is best at reducing recurrence rates, PPH is best at reducing postoperative anal stricture, and F is best at reducing postoperative pain after 24 h.
Topics: Humans; Hemorrhoids; Blood Loss, Surgical; Constriction, Pathologic; Network Meta-Analysis; Pain, Postoperative; Anorectal Malformations
PubMed: 37634164
DOI: 10.1007/s10151-023-02855-6