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Turkish Archives of Pediatrics Nov 2023Anorectal malformation is a disease with different subtypes and anatomical and functional multisystemic involvement that requires a unique approach in each age group....
Anorectal malformation is a disease with different subtypes and anatomical and functional multisystemic involvement that requires a unique approach in each age group. Anomalies associated with vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities (VACTERL) association require detailed investigation and management. Beginning from the neonatal period, treatment is carried out with different surgical procedures. The clinical course of these patients may be associated with medical problems, accompanying congenital anomalies, perioperative management, or late sequelae. Constipation and fecal-urinary incontinence are the most common problems encountered in long-term follow-up. Renal failure is the most important cause of long-term mortality. In addition, these patients need to be under control until adulthood due to cardiological, spinal, genital, gynecological, and endocrine problems. In this follow-up, many pediatric disciplines such as neonatal intensive care, cardiology, nephrology, gastroenterology, and endocrinology cooperate with pediatric surgeons and pediatric urologists.
PubMed: 37584470
DOI: 10.5152/TurkArchPediatr.2023.23090 -
Clinical and Experimental Pediatrics Feb 2024Anorectal manometry is one of the motility tests in children performed by pediatric gastroenterologist. It evaluates the motility function of anorectal tract. It is...
Anorectal manometry is one of the motility tests in children performed by pediatric gastroenterologist. It evaluates the motility function of anorectal tract. It is helpful for diagnosing children with constipation, rectal hypersensitivity, fecal incontinence, Hirschsprung disease, anal achalasia, and anorectal malformations. The most common indication to perform anorectal manometry is to diagnose Hirschsprung disease. It is a safe procedure. This paper discusses recent advances and reviews on anorectal motility disorders in children.
PubMed: 37321574
DOI: 10.3345/cep.2022.01242 -
African Journal of Paediatric Surgery :... Jan 2024Male congenital urethrocutaneous fistula is an extremely rare anomaly that is commonly associated with chordee or anorectal malformations. It is characterised by an...
Male congenital urethrocutaneous fistula is an extremely rare anomaly that is commonly associated with chordee or anorectal malformations. It is characterised by an abnormal urethral opening on the ventral aspect of the penis with well-formed distal urethra and meatus at the tip of the glans. The treatment is individualised according to the site of the fistula, associated anomalies and condition of the distal urethra. The principles of hypospadias surgery should be strictly followed.
Topics: Male; Humans; Hypospadias; Anorectal Malformations; Urethra
PubMed: 38259026
DOI: 10.4103/ajps.ajps_97_22 -
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 -
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 -
Frontiers in Pediatrics 2024During the second stage surgery for anorectal malformations (ARM), patients whose distal intestine of the colostomy is particularly short underwent laparoscopic-assisted...
PURPOSE
During the second stage surgery for anorectal malformations (ARM), patients whose distal intestine of the colostomy is particularly short underwent laparoscopic-assisted distal colon excision and proximal colon pull-through anorectoplasty (PCPARP). This study aimed to discuss the outcomes of PCPARP after colostomy in patients with ARM.
METHODS
This is a single-center propensity score-matched (PSM) study which was retrospectively initiated patients with intermediate- or high-type ARM who underwent laparoscopic surgery from June 2007 to December 2018. These patients were divided into PCPARP group and conventional laparoscopic-assisted anorectoplasty (LAARP) group according to specific surgical methods. The general data, surgical data, postoperative complications, and functional results were evaluated.
RESULTS
In total, 216 patients were included in this study: 190 (88.0%) undergoing LAARP approach and 26 (12.0%) undergoing PCPARP approach. After PSM, two well-balanced groups of 26 patients were analyzed and showed the postoperative complications ( = 0.126) and bowel function ( = 0.809) were similiar between the two groups.
CONCLUSIONS
The curative effect of PCPARP after colostomy is similar to that of classic LAARP surgery, which can be used for ARM patients with a very short and abnormal distal intestine of the stoma.
PubMed: 38798309
DOI: 10.3389/fped.2024.1402666 -
Journal of Multidisciplinary Healthcare 2024Treatment of anorectal malformations (ARM) and the management of clinical outcomes are challenging for families. While most studies focus on mothers suffering from care...
BACKGROUND
Treatment of anorectal malformations (ARM) and the management of clinical outcomes are challenging for families. While most studies focus on mothers suffering from care burden, high stress, and low quality of life, there is limited knowledge of what fathers of children with ARM experience; therefore, this study aimed to examine how both mothers and fathers have experience caring for children with ARM and how beliefs and cultural issues affect the perception of congenital anomalies.
METHODS
A qualitative design. Consolidated criteria for reporting the qualitative research guidelines were used in this study. The guidelines for thematic analysis were followed for data analysis.
RESULTS
Ten mothers and six fathers were interviewed, and their mean age was 32.5 ± 4.2 years. Of the 75% (n = 12) illiterate and 93.7% (n = 15) had an expanded family type, all their religious affiliations were Muslim. The four main themes were (1) ambiguity, (2) challenges, (3) stigma, and (4) coping, which were determined in line with the results of the data analysis of parents' views on having and caring for children with ARM.
CONCLUSION
In this study, many Somali parents reported that they lacked disease and treatment knowledge, physical exhaustion, and some difficulties related to a lack of access to the hospital because of living in rural areas, caring for the child, and dealing with long-term complications, colostomy, anal dilatation, and enema before or after anoplasty. While all parents mentioned that having a child with ARM was a fate, it was seen as punishment by their close social environment. Consequently, this study could serve as a foundation for planning comprehensive healthcare and physical and psychosocial support for multidisciplinary health professionals.
PubMed: 38863765
DOI: 10.2147/JMDH.S462391