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Journal of Pediatric and Adolescent... Dec 2021Cloacal malformations are among the most complex types of anorectal malformation and are characterized by the urological, genital, and intestinal tracts opening through... (Review)
Review
Cloacal malformations are among the most complex types of anorectal malformation and are characterized by the urological, genital, and intestinal tracts opening through a single common channel in the perineum. Long-term outcome is affected by multiple factors, which include anatomical variants of the malformation itself, associated anomalies, and the surgical approach. Reconsidering these variables and their influence on "patient important" function might lead to strategies that are more outcome-driven than focused on the creation of normal anatomy. Key outcomes reflect function in each of the involved tracts and the follow-up needed should therefore not only include the classical fields of colorectal surgery and urology but also focus on items such as gynecology, sexuality, family-building, and quality of life as well as other psychological aspects. Involving patients and families in determining optimal treatment strategies and outcome measures could lead to improved outcomes for the individual patient. A strategy to support delivery of personalized care for patients with cloacal malformations by aiming to define the best functional outcomes achievable for any individual, then select the treatment pathway most likely deliver that, with the minimum morbidity and cost, would be attractive. Combining the current therapies with ongoing technological advances such as tissue expansion might be a way to achieve this.
Topics: Anal Canal; Animals; Anorectal Malformations; Child; Cloaca; Humans; Postoperative Care; Quality of Life
PubMed: 34419606
DOI: 10.1016/j.jpag.2021.08.009 -
Birth Defects Research Mar 2022Deficiency of Conserved Oligomeric Golgi (COG) subunits (COG1-8) is characterized by both N- and O-protein glycosylation defects associated with destabilization and...
BACKGROUND
Deficiency of Conserved Oligomeric Golgi (COG) subunits (COG1-8) is characterized by both N- and O-protein glycosylation defects associated with destabilization and mislocalization of Golgi glycosylation machinery components (COG-CDG). Patients with COG defects present with neurological and multisystem involvement and possible malformation occurrence. Eighteen patients with COG6-CDG (COG6 mutations) were reported to date. We describe a patient with COG6-CDG with novel variants and a novel clinical feature namely a congenital recto-vaginal fistula.
METHODS
In-depth serum N- and O-glycosylation structural analyses were conducted by MALDI-TOF mass spectrometry. COG6 variants were identified by a gene panel and confirmed by Sanger sequencing.
RESULTS
This female newborn presented with facial dysmorphism, distal arthrogryposis and recurrent stool discharges per vaginam. A double-contrast barium-enema X-ray study revealed a dehiscence (approximately 5 mm) at the anterior wall of the rectal ampoule communicating with the vagina consistent with a recto-vaginal fistula. She had developmental delay, corpus callosum dysgenesis, liver and gastrointestinal involvement, hyperthermia episodes and early demise. Serum N- and O-glycosylation analyses pointed to a profound Golgi disarrangement. We identified two novel variants in COG6: a deletion of 1 bp mutation c.823delA creating a shift in the reading frame and a premature stop codon and a 3 bp deletion (c.1141_1143delCTC) producing an in-frame deletion of 1 amino acid.
CONCLUSION
The congenital recto-vaginal fistula is a rare type of anorectal malformation that, to our knowledge, has not been reported in patients with a COG6 defect nor in patients with other COG defects. This study broadens COG6-CDG genetic landscape and spectrum of malformations.
Topics: Adaptor Proteins, Vesicular Transport; Congenital Disorders of Glycosylation; Female; Glycosylation; Golgi Apparatus; Humans; Infant, Newborn; Vaginal Fistula
PubMed: 35068072
DOI: 10.1002/bdr2.1981 -
Journal of Indian Association of... 2022Associated congenital anomalies, operative structural injury, and postoperative neurovesical dysfunction combine to cause urinary retention in children with a history of...
INTRODUCTION
Associated congenital anomalies, operative structural injury, and postoperative neurovesical dysfunction combine to cause urinary retention in children with a history of surgery for anorectal malformation (ARM).
AIM
To study the presentation and management of urinary retention in patients with a history of ARM surgery.
METHODOLOGY
Retrospective study.
RESULTS AND DISCUSSION
Twenty-five children presented with urinary retention with a history of ARM surgery performed elsewhere. There were 17 males (high - 14, intermediate - 2, and low - 1) and 8 females (cloaca). Sixteen children had an abnormal spine. Eight children had urethral injury (total transection - 3) and three had a large residual rectal stump. 41/48 renal units were dilated and 27 refluxing. Seventeen children had abnormal estimated glomerular filtration rate and five had undergone urinary diversion.
MANAGEMENT
Definitive surgical management was individualized, the most pertinent consideration being whether normal voiding would be feasible or whether a continent low pressure urinary reservoir with clean intermittent catheterization (CIC) would be a safer option. Operative management included excision of the rectal stump (3), urethral reconstruction (2), bladder augmentation (17), Mitrofanoff port (22), bladder neck closure (2), and antireflux surgery (13). Follow-up estimated glomerular filtration rate had improved/normalized in all but two patients. HUN resolved/improved in all and 25/27 refluxing units ceased refluxing. All are socially continent with ten voiding normally and the rest on CIC.
CONCLUSION
Urinary retention after ARM surgery is multifactorial and requires prompt recognition and possibly urinary diversion. Final reconstruction aims at achieving continence with safe upper tracts. Urethral voiding is possible in the selected cases.
PubMed: 35937107
DOI: 10.4103/jiaps.JIAPS_348_20 -
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 -
Indian Journal of Anaesthesia Sep 2019Anaesthesia for neonates is a composite of good knowledge of neonatal and transitional physiology combined with skill in airway maintenance and vascular access. When the... (Review)
Review
Anaesthesia for neonates is a composite of good knowledge of neonatal and transitional physiology combined with skill in airway maintenance and vascular access. When the newborn is a preterm, the complexities of management increase due to the small size and accompanying issues such as bronchopulmonary dysplasia and apnoea. World over, the number of survivors of preterm birth is on the increase. We searched Pubmed for "Anesthesia, apnea, neonatal, neonates, physiology, preterm, spinal anesthesia", as well as cross references from review articles. These babies have a high incidence of conditions warranting surgery (e.g., tracheoesophaeal fistula, congenital diaphragmatic hernia, anorectal malformations, incarcerated hernia, necrotising enterocolitis). The possibility of neurodevelopmental harm by anaesthetics is currently the topic of active research. In parallel, advances in paediatric anaesthesia equipment, use of regional and neuraxial anaesthesia and availability of monitoring have steadily increased the safety of anaesthesia in these tiny patients.
PubMed: 31571691
DOI: 10.4103/ija.IJA_591_19 -
Journal of Indian Association of... 2017
PubMed: 28413298
DOI: 10.4103/jiaps.JIAPS_23_17 -
Children (Basel, Switzerland) Jun 2023Functional constipation (FC) affects up to 32% of the pediatric population, and some of these patients are referred to pediatric surgery units to manage their... (Review)
Review
BACKGROUND
Functional constipation (FC) affects up to 32% of the pediatric population, and some of these patients are referred to pediatric surgery units to manage their constipation and/or fecal incontinence. The aim of the current paper is to report the recent updates on the evaluation and management of children with FC as a part of a manuscript series on bowel management in patients with anorectal malformations, Hirschsprung disease, spinal anomalies, and FC.
METHODS
A literature search was performed using Medline/PubMed, Google Scholar, Cochrane, and EMBASE databases and focusing on the manuscripts published within the last 5-10 years.
RESULTS
The first step of management of children with FC is to exclude Hirschsprung disease with a contrast study, examination under anesthesia, anorectal manometry (AMAN). If AMAN shows absent rectoanal inhibitory reflex, a rectal biopsy is performed. Internal sphincter achalasia or high resting pressures indicate botulinum toxin injection. Medical management options include laxatives, rectal enemas, transanal irrigations, and antegrade flushes. Those who fail conservative treatment require further assessment of colonic motility and can be candidates for colonic resection. The type of resection (subtotal colonic resection vs. Deloyer's procedure) can be guided with a balloon expulsion test.
CONCLUSION
Most of the patients with FC referred for surgical evaluation can be managed conservatively. Further studies are required to determine an optimal strategy of surgical resection in children unresponsive to medical treatment.
PubMed: 37371309
DOI: 10.3390/children10061078 -
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 2020Anorectal malformations (ARM) are well recognized to be associated with anomalies in other organ systems. The introduction of screening protocols has increased the... (Review)
Review
Anorectal malformations (ARM) are well recognized to be associated with anomalies in other organ systems. The introduction of screening protocols has increased the diagnosis of these anomalies and greater collaboration with other specialties has influenced the treatment and follow-up of patients with ARMs. Much of the medical literature regarding the treatment of anorectal malformations has focused on technical details of operations and early post-surgical outcomes. Recently, an increase in published data regarding the long-term sequelae of an ARM diagnosis has resulted in an emphasis extended follow up in this population. Patient support groups have highlighted complex issues in ARM patients persist into adulthood have advocated for improved transitional care. This article describes the benefits of long-term follow-up and identifies key issues in ARM patients with respect to urologic and gynecologic health. A collaborative model of care is outlined and suggested timings of screening for potential problems is described.
Topics: Abnormalities, Multiple; Aftercare; Anorectal Malformations; Cooperative Behavior; Gastroenterology; Gynecology; Humans; Interprofessional Relations; Patient Care Team; Pediatrics; Urogenital Abnormalities; Urology
PubMed: 33288143
DOI: 10.1016/j.sempedsurg.2020.150987 -
American Journal of Medical Genetics.... Dec 2021The acronym VATER/VACTERL refers to the rare nonrandom association of the following component features (CFs): vertebral defects (V), anorectal malformations (ARM) (A),...
The acronym VATER/VACTERL refers to the rare nonrandom association of the following component features (CFs): vertebral defects (V), anorectal malformations (ARM) (A), cardiac anomalies (C), tracheoesophageal fistula with or without esophageal atresia (TE), renal malformations (R), and limb anomalies (L). For the clinical diagnosis, the presence of at least three CFs is required, individuals presenting with only two CFs have been categorized as VATER/VACTERL-like. The majority of VATER/VACTERL individuals displays a renal phenotype. Hitherto, variants in FGF8, FOXF1, HOXD13, LPP, TRAP1, PTEN, and ZIC3 have been associated with the VATER/VACTERL association; however, large-scale re-sequencing could only confirm TRAP1 and ZIC3 as VATER/VACTERL disease genes, both associated with a renal phenotype. In this study, we performed exome sequencing in 21 individuals and their families with a renal VATER/VACTERL or VATER/VACTERL-like phenotype to identify potentially novel genetic causes. Exome analysis identified biallelic and X-chromosomal hemizygous potentially pathogenic variants in six individuals (29%) in B9D1, FREM1, ZNF157, SP8, ACOT9, and TTLL11, respectively. The online tool GeneMatcher revealed another individual with a variant in ZNF157. Our study suggests six biallelic and X-chromosomal hemizygous VATER/VACTERL disease genes implicating all six genes in the expression of human renal malformations.
Topics: Anorectal Malformations; Cytoskeletal Proteins; DNA-Binding Proteins; Esophageal Atresia; Female; Genes, X-Linked; Genetic Association Studies; Genetic Predisposition to Disease; HSP90 Heat-Shock Proteins; Heart Diseases; Hemizygote; Homeodomain Proteins; Humans; Kidney; Male; Receptors, Interleukin; Tracheoesophageal Fistula; Transcription Factors; Exome Sequencing
PubMed: 34338422
DOI: 10.1002/ajmg.a.62447