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Pediatric Surgery International Apr 2021The anal position index (API) was described in 1984 by Reisner et al. Since then, it has been measured in different ethnic populations and its utility in various medical... (Meta-Analysis)
Meta-Analysis
PURPOSE
The anal position index (API) was described in 1984 by Reisner et al. Since then, it has been measured in different ethnic populations and its utility in various medical conditions have been explored. We aimed to review the literature regarding the various values reported analytically.
METHOD
A Pubmed Search was carried out with the terms Anal Position Index. There were 158 articles hit by the search. The description of the API was uniform in all studies, described as ratio of anus-fourchette distance in girls and anus-scrotum distance in boys to the distance between coccyx and fourchette/scrotum. 18 relevant studies were included describing the values in different ethnic groups and describing its utility. One study was excluded from statistics due to different landmark for measurement. The studies were grouped into 4. Group A:B:C:D comprised of Newborns:Infants:All age groups:Constipated children. We carried out meta-analysis to estimate effect size (mean difference) using STATA software version 16.0.
RESULTS
The different ethnic populations in which API were measured, and were Indian (2), Turkish (3), Israel (2), Taiwanese, Thai, Iranian, Spanish, Italian, and Mexican. The API was higher by 0.129 in boys. The mean API in males was 0.53:0.54:0.48:0.52 in Group A:B:C:D with an overall mean (SD) API of 0.51 (0.04). The mean API in females was 0.40:0.40:0.38:0.37 in Group A:B:C:D with an overall mean (SD) API of 0.40(0.03). Two studies were done in mice and showed the relation of API to intrauterine exposure to androgens. In children, API was mostly used to diagnose an anterior ectopic anus and see correlation with constipation. The abnormal values varied from less than 0.30-0.34 in girls and less than 0.41-0.46 in boys. The effect size by regions showed that the estimated effect size for all the regions were within 95% Confidence limits of overall estimate (0.13: 95% CI: 0.13-0.14). Therefore, it can be inferred that there was no significant ethnic variation in the study parameter. The anal position in relation to genitalia was measured in nulliparous women, menopause women, and women with levator deficiency. It was affected in vulvovaginal atrophy. Dichlorodiphenyldichloroethylene exposure during the first trimester of pregnancy was reported to alter the anal position in male infants.
CONCLUSION
The anteriorly positioned anus has been associated with constipation. API been measured in various ethnic populations with insignificant variations. The API is significantly (p < 0.05) higher in males. The presence of constipation does not seem to alter API. One should adopt a single method for measurement. API should not be considered at the sole indication for any surgical intervention.
Topics: Anal Canal; Animals; Anorectal Malformations; Coccyx; Constipation; Female; Genitalia; Humans; Infant; Infant, Newborn; Iran; Israel; Italy; Male; Mexico; Mice; Scrotum; Spain; Thailand; Turkey
PubMed: 33511448
DOI: 10.1007/s00383-020-04839-1 -
Medicina (Kaunas, Lithuania) Nov 2020Caudal duplication syndrome is a rare association of anatomical anomalies describing duplication of the hindgut, spine, and uro-genital structures, leading to varied...
Caudal duplication syndrome is a rare association of anatomical anomalies describing duplication of the hindgut, spine, and uro-genital structures, leading to varied clinical presentations. The current literature focuses on case reports which describe the embryological etiology and anatomical spectrum of the condition giving little attention to the surgical preparation, the need for a well-structured follow-up program, or the transition into adult healthcare of these complex patients. No reviews have been published regarding this complex pathology. : A review of caudal duplication syndrome cases was done to assess the range of the clinical malformations, timing, and types of surgical interventions. Inconsistencies in multidisciplinary care, follow-up, and risk events were described. Hindgut duplication always involved the anorectal region. Anorectal malformations were evenly distributed as unilateral and bilateral. Colon duplication extended from the anal region to the transverse colon or ascending colon in most of the cases and less to terminal. In females, genital duplication was present in all cases. The follow-up period varied between 3 months and 12 years. In all adult females, the motive of presentation was related to pregnancy (complications after successful delivery, fertility evaluation) or late complications (fecalith obstruction of the end-to-side colon anastomosis, repeated UTIs with renal scarring). : Complex malformations affecting multiple caudal organs may have a strong impact in many aspects of the long-term quality of life; therefore, patients with caudal duplication syndrome need increased awareness and joined multidisciplinary treatment.
Topics: Adult; Anorectal Malformations; Colon; Female; Follow-Up Studies; Humans; Quality of Life; Rectum
PubMed: 33260808
DOI: 10.3390/medicina56120650 -
Medicina (Kaunas, Lithuania) Oct 2020Anorectal atresia (ARA) is a common congenital anomaly, but prenatal diagnosis is difficult, late, and unspecific. Utilizing a case of a 46 year old primipara with an...
Anorectal atresia (ARA) is a common congenital anomaly, but prenatal diagnosis is difficult, late, and unspecific. Utilizing a case of a 46 year old primipara with an egg donation In Vitro Fertilization (IVF) pregnancy, diagnosed at the first trimester scan with an anechoic isolated structure, which indicates anal atresia, we performed a systematic literature review in order to evaluate early prenatal ARA diagnosis. A total of 16 cases were reported as first trimester ARA suspicion, and only three had no associated anomalies. The most frequent ultrasound (US) sign was the presence of a cystic, anechoic pelvic structure of mainly tubular shape, or a plain abdominal cyst. In the majority of cases, structures were thin-walled and delimitated from the bladder. The presence of hyperechoic spots signifying enterolithiasis and peristaltic movements were helpful in order to establish the bowel origin of the lesion. Considering the high eventuality that the lesion is transitory, meaning later in pregnancy the fetus looks normal, early detection of such a sign should prompt further structural detailed evaluation, karyotyping, and appropriate pregnancy and postnatal counselling.
Topics: Anorectal Malformations; Female; Fetus; Humans; Middle Aged; Pregnancy; Pregnancy Trimester, First; Prenatal Diagnosis; Ultrasonography; Ultrasonography, Prenatal
PubMed: 33143152
DOI: 10.3390/medicina56110583 -
Neurogastroenterology and Motility Apr 2021There is wide variation in the clinical use of diagnostic tools for children with chronic constipation and functional/structural fecal incontinence (CCFSFI). Anorectal...
BACKGROUND
There is wide variation in the clinical use of diagnostic tools for children with chronic constipation and functional/structural fecal incontinence (CCFSFI). Anorectal manometry (ARM) is a well-recognized technique to assess the function of the anorectum.
PURPOSE
Our aim was to perform an up-to-date review on ARM in pediatric patients with CCFSFI, with specific focus on the indication of use and protocol. Variation of its use in pediatrics will be explored.
METHODS
A systematic search was conducted for empirical studies utilizing ARM with a pediatric sample. A keyword search of literature published in English before July 2018 was conducted and updated to October 2019. Data on demographics, clinical information, study aims, ARM parameters and use of sedation/anesthesia were collected.
KEY RESULTS
A total of 227 studies were included in this systematic review. The age of study participants at the time of ARM ranged from birth to 18 years. ARM was most commonly used in patients with organic conditions (65%) compared to functional constipation (41%). In almost half [108/227 (48%)] of the studies, ARM was performed awake. The ARM parameters most frequently assessed were the rectoanal inhibitory reflex, which was evaluated in 198/227 studies (87%) and the anal resting pressure [166/227 studies (73%)].
CONCLUSIONS AND INFERENCES
This systematic review has highlighted the vast variation of ARM use within pediatrics and the need to strive toward standardization and use of consensus guidelines. We anticipate this will further advance our understanding of the pathophysiological mechanisms involved in children with defecation disorders.
Topics: Adolescent; Anal Canal; Child; Child, Preschool; Constipation; Defecation; Empirical Research; Fecal Incontinence; Humans; Infant; Infant, Newborn; Manometry; Pediatrics; Rectal Diseases; Rectum
PubMed: 33118295
DOI: 10.1111/nmo.14006 -
Pediatric Surgery International Nov 2020This study reviewed the literature on the postoperative complications following laparoscopic-assisted anorectoplasty (LAARP).
AIM
This study reviewed the literature on the postoperative complications following laparoscopic-assisted anorectoplasty (LAARP).
METHODS
A Medline and Embase search was performed for the terms "anorectal malformation" (ARM) "laparoscopic" and "complication". Articles without English full text, review articles, systematic reviews, case reports, case series < 5 cases and duplicate articles were excluded. Two reviewers independently performed the eligibility assessment and data extraction. Data were collected for type of malformation, surgical technique, postoperative complications and functional outcomes RESULTS: The search retrieved 108 articles, of which 38 met the inclusion criteria and offered 1058 patients for analysis. Rectoprostatic and rectobladder neck fistula were the most common types of ARM in males, whereas it was the common cloaca in females. Analysis of complications demonstrated rectal prolapse (n = 149; 14.08%) being the most prominent, followed by urethral diverticulum (n = 32; 3.02%), anal stenosis (n = 37; 3.49%), recurrent fistula (n = 7; 0.66%) and rectal stricture (n = 4; 0.37%). Krickenbeck classification was used for functional assessment in 638 patients, with fecal soiling grade 2 or > 2 in 79. Data on functional outcome specific to the type of malformation was available for 246 patients: fecal soiling grade 2 or > 2 in 15/94 (15.95%) with rectoprostatic fistula, 26/73 (35.61%) with rectobladder neck fistula, 6/47 (12.76%) with common cloaca, and 1/22 (4.54%) with no fistula.
CONCLUSION
Rectal prolapse, posterior urethral diverticulum and anal stenosis are the most common complications after LAARP. Inconsistent and non-uniform functional assessment and non-availability of information about the sacrum and spine make it difficult to analyze the functional outcome following LAARP.
Topics: Anorectal Malformations; Humans; Laparoscopy; Postoperative Complications; Rectum
PubMed: 32980932
DOI: 10.1007/s00383-020-04748-3 -
Journal of Pediatric Surgery May 2020This study aims to compare the prevalence and outcomes of surgically correctable congenital anomalies between sexes. (Meta-Analysis)
Meta-Analysis
PURPOSE
This study aims to compare the prevalence and outcomes of surgically correctable congenital anomalies between sexes.
METHODS
Upon registration on PROSPERO (CRD42019120165), a librarian aided in conducting a systematic review using PRISMA guidelines. The five largest relevant studies were included for each anomaly. Cumulative prevalence differences and confidence intervals were calculated, and the Cochran-Mantel-Haenszel test was performed.
RESULTS
Of 42,722 identified studies, 68 were included in our analysis. All included anomalies had greater than 1000 patients except duodenal atresia (n = 787) and intestinal duplication (n = 148). Males had a significantly higher prevalence than females in 10/14 anomalies (Hirschsprung's disease, omphalomesenteric duct, congenital diaphragmatic hernia, anorectal malformation, malrotation, esophageal atresia, congenital pulmonary airway malformation, intestinal atresia, omphalocele, and gastroschisis; p < 0.001). There was no difference in the prevalence of duodenal atresia or intestinal duplication between sexes (p = 0.88 and 0.65, respectively). Females had a significantly higher prevalence of biliary anomalies (atresia and choledochal cyst).
CONCLUSION
Our study indicates that males have higher prevalence rates of most congenital anomalies. Further investigations are required to illuminate the embryology underlying this sex distribution and whether sex influences outcomes.
TYPE OF STUDY
Systematic review and meta-analysis.
LEVEL OF EVIDENCE
Prognostic study, level II.
Topics: Congenital Abnormalities; Female; Humans; Infant; Infant, Newborn; Male; Sex Factors
PubMed: 32061363
DOI: 10.1016/j.jpedsurg.2020.01.016 -
Zhonghua Yi Xue Yi Chuan Xue Za Zhi =... Dec 2019To explore the genetic etiology of a child with moderate mental retardation and multiple malformations.
OBJECTIVE
To explore the genetic etiology of a child with moderate mental retardation and multiple malformations.
METHODS
The child and his parents underwent conventional G banding karyotype analysis and single nucleotide polymorphism-based mircoarray (SNP-array) scan. A systematic review for chromosome 13q deletions was also conducted to explore the correlation between genotype and clinical phenotypes.
RESULTS
G banding karyotype of the child showed a partial deletion in the long arm of chromosome 13 described as 46,XY,del(13)(q32). SNP-array detected a deletion fragment of 11.367 Mb in 13q32.1-q33.3 region, which encompassed 30 OMIM (Online Mendelian Inheritance in Man) genes including FARP1, STK24 and ZIC2. The parents were found with no obvious abnormality in their karyotypes and SNP-array results, suggesting a de novo origin for the deletion. Combined with previous reported cases, chromosomal 13q deletions seem to have various pathogenic effects on the patients.
CONCLUSION
Chromosomal 13q32.1-q33.3 deletion probably underlies the disease phenotype in the child, and EFNB2 may be a candidate gene for congenital heart defect, genital malformation, hypospadias and anorectal malformations.
Topics: Abnormalities, Multiple; Child; Chromosome Banding; Chromosome Deletion; Chromosome Disorders; Chromosomes, Human, Pair 13; Humans; Karyotyping; Male
PubMed: 31813151
DOI: 10.3760/cma.j.issn.1003-9406.2019.12.016 -
Neurourology and Urodynamics Jan 2020In childhood, the most common reason for a neurogenic bladder is related to spinal dysraphism, mostly myelodysplasia.
BACKGROUND
In childhood, the most common reason for a neurogenic bladder is related to spinal dysraphism, mostly myelodysplasia.
AIMS
Herein, we present the EAU/ESPU guidelines in respect to the diagnostics, timetable for investigations and conservative management including clean intermittent catheterization (CIC).
MATERIAL AND METHODS
After a systematic literature review covering the period 2000 to 2017, the ESPU/EUAU guideline for neurogenic bladder underwent an update.
RESULTS
The EAU/ESPU guideline panel advocates a proactive approach. In newborns with spina bifida, CIC should be started as soon as possible after birth. In those with intrauterine closure of the defect, urodynamic studies are recommended be performed before the patient leaves the hospital. In those with closure after birth urodynamics should be done within the next 3 months. Anticholinergic medication (oxybutynin is the only well-investigated drug in this age group-dosage 0.2-0.4 mg/kg weight per day) should be applied, if the urodynamic study confirmed detrusor overactivity. Close follow-up including ultrasound, bladder diary, urinalysis, and urodynamics are necessary within the first 6 years and after that the time intervals can be prolonged, depending on the individual risk and clinical course. In all other children with the suspicion of a neurogenic bladder due to various reasons as tethered cord, inflammation, tumors, trauma, or other reasons as well as those with anorectal malformations, urodynamics-preferable video-urodynamics, should be carried out as soon as there is a suspicion of a neurogenic bladder and conservative treatment should be started soon after confirmation of the diagnosis of neurogenic bladder. With conservative treatment the upper urinary tract is preserved in up to 90%, urinary tract infections are common, but not severe, complications of CIC are quite rare and continence can be achieved at adolescence in up to 80% without further treatment.
DISCUSSION AND CONCLUSIONS
The transition into adulthood is a complicated time for both patients, their caregivers and doctors, as the patient wants to become independent from caregivers and treatment compliance is reduced. Also, transition to adult clinics for patients with neurogenic bladders is often not well-established.
Topics: Adolescent; Child; Conservative Treatment; Female; Humans; Intermittent Urethral Catheterization; Male; Urinary Bladder, Neurogenic
PubMed: 31724222
DOI: 10.1002/nau.24211 -
Pediatric Surgery International Jan 2020Hirschsprung's disease (HSCR) and anorectal malformation (ARM) are often associated with other congenital malformations, but the association of each other is rare. Some...
BACKGROUND/PURPOSE
Hirschsprung's disease (HSCR) and anorectal malformation (ARM) are often associated with other congenital malformations, but the association of each other is rare. Some studies have reported the incidence of HSCR associated with ARM ranging from 2.0 to 3.4%. The purpose of this study was to update the current epidemiological and therapeutic features of this rare congenital association.
METHODS
A systematic literature search for relevant articles was performed in four databases using a combination of the following terms "association of Hirschsprung's disease and anorectal malformation", "aganglionosis and anorectal malformation" and "congenital megacolon and anorectal malformation" for studies published between 1952 and 2019. Reference lists were screened for additional cases.
RESULTS
Forty-three studies met the defined inclusion criteria, reporting a total of 126 patients who were diagnosed with HSCR with ARM. Thirty articles reported 42 single case reports of this association. Twelve articles reported 66 cases of HSCR in case series of 3309 ARM patients, resulting in an incidence of 2% of this association. Associated syndrome was found in 25 cases (20%): Currarino syndrome in 11, Down syndrome in 8, Cat eye syndrome in 4 and Pallister-Hall syndrome in 2 patients. Extent of aganglionosis was reported in 62 cases: short or rectosigmoid aganglionosis was reported in 44, long segment aganglionosis in 8, total colonic aganglionosis in 9 and total intestinal aganglionosis in 1 case.
CONCLUSION
Although the association of ARM and HSCR is rare, the incidence of HSCR among ARM cases seems to be higher than in the general pediatric population. There was a high incidence of coexistence of ARM and HSCR with severe associated syndromes.
Topics: Anorectal Malformations; Child; Hirschsprung Disease; Humans
PubMed: 31552492
DOI: 10.1007/s00383-019-04580-4 -
Pediatric Surgery International Sep 2019Sacral nerve stimulation (SNS) is frequently used for constipation and fecal incontinence in the adult literature. The purpose of this study is to perform a systemic...
BACKGROUND
Sacral nerve stimulation (SNS) is frequently used for constipation and fecal incontinence in the adult literature. The purpose of this study is to perform a systemic review of the literature for SNS for constipation and fecal incontinence in children with emphasis in anorectal malformations.
METHODS
Systematic literature review was conducted to include all SNS studies in patients < 19 years of age. Studies were separated into those for (1) constipation, (2) bowel and bladder dysfunction, and (3) anorectal malformations.
RESULTS
28 articles were included in the review: (1) 12 constipation (269 patients) and (2) 16 bowel and bladder dysfunction (441 patients). Some studies overlapped groups, as they included some patients with anorectal malformations (4 articles and 29 patients). Constipation studies included slow transit and retention constipation and showed varying degrees of improvement. For bowel and bladder dysfunction, studies also reported varying degrees of improvement using different measures (number of bowel movements per day, transit times, and soiling improvement). There was no specific description of the results in anorectal malformation (ARM) cases and also information regarding specific ARM type, sacral ratio, or presence of tethered cord.
CONCLUSIONS
SNS for constipation and urinary problems seems to be promising. Data are limited and heterogeneous, and SNS cannot be definitively encouraged or discouraged in patients with ARM, based on current studies. Future studies should include more objective measurements of bowel outcomes and specify outcomes related to patients with anorectal malformations including information regarding their specific malformation, sacral ratio, and presence of tethered cord. Complications' rate is considerable high.
Topics: Anorectal Malformations; Child; Child, Preschool; Constipation; Electric Stimulation Therapy; Fecal Incontinence; Female; Humans; Male; Sacrum
PubMed: 31256299
DOI: 10.1007/s00383-019-04515-z