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Indian Journal of Pediatrics Jun 2022To estimate the impact of delayed presentation of anorectal malformation (ARM) in neonates and to compare the presenting characteristics and outcomes of early versus... (Observational Study)
Observational Study
OBJECTIVE
To estimate the impact of delayed presentation of anorectal malformation (ARM) in neonates and to compare the presenting characteristics and outcomes of early versus delayed presentation.
METHODS
This is a prospective observational study of all neonates (age < 28 d) with ARM over 2 y. Delayed presentation was defined as presentation beyond 48 h of birth. Various presenting features and their early postoperative outcomes were compared.
RESULTS
Nearly half (26, 48%) of the 54 neonates with ARM had delayed presentation. Early and late presenters did not differ in terms of gender, gestational age, birth weight, place of delivery, and type of ARM (p > 0.05 for all). Delayed group had lower weight at presentation (p = 0.008), higher incidence of severe abdominal distension (p = 0.05), and sepsis (p = 0.171) and required longer time for resuscitation (p = 0.007) and more inotropes (p = 0.015), preoperatively. Early postoperative outcomes including time for stoma to function, initiate feeds and time to reach full feeds were significantly delayed in late presenters. They also had more wound infections, longer hospital stay and higher mortality.
CONCLUSIONS
Delayed diagnosis of ARM is associated with significantly higher morbidity and mortality. Adequate awareness and training of health workers for early identification of ARM by careful perineal examination of all newborns at birth is the need of the hour.
Topics: Anorectal Malformations; Delayed Diagnosis; Digestive System Abnormalities; Gestational Age; Humans; Infant, Newborn; Retrospective Studies
PubMed: 34553299
DOI: 10.1007/s12098-021-03887-2 -
Journal of Pediatric Urology Feb 2021For the Y-subtype of urethral duplications expression and nomenclature vary, as treatment recommendations do. (Review)
Review
BACKGROUND
For the Y-subtype of urethral duplications expression and nomenclature vary, as treatment recommendations do.
OBJECTIVE
To raise awareness of the variety and variable terminology of Y-type duplication of the urethra, and to discuss the diagnostic work-up in light of options for or against surgical reconstruction.
MATERIALS AND METHODS
Five patients with congenital Y-urethra were treated in four institutions within 15 years (2004-2019). While patients were managed in our respective institution with some exchange of experience, all available data were shared and evaluated for this review.
RESULTS
The age at initial presentation was 1 day-6 months. In three patients the Y-urethra was found together with an anorectal malformation (ARM). With the focus on reconstruction rather than suprapubic diversion the orthotopic urethra was restored in the majority of patients using either single-step or staged approaches while the accessory urethral limb was incorporated. This was successful despite additional procedures aiming at ARM reconstruction. The patients void spontaneously and do control urine and bowels. One patient underwent kidney transplantation as a consequence of associated renal anomalies while reconstructive attempts regarding his urethral anomaly failed. In two patients, uncertainty in recognizing the pathology delayed a purposive treatment.
DISCUSSION
For this rare anomaly the terminology in the literature merges and suggestions for the treatment differ. Success in four out five patients supports an approach which makes use of the accessory ventral track to restore the orthotopic urethra. Since some patients present as a neonatal emergency with concomitant problems such as ARM, a basic understanding of the variable pathology is required.
CONCLUSION
The cases of Y-urethra reported herein demonstrate that correct allocation at the initial presentation or at least prior to first surgical steps will preserve the chance for physiologic micturition and urinary continence. Timing of surgery has to be done in the context of associated malformations and is not an emergency as long as proper bladder drainage is ensured. However, relocation of the accessory track requires several procedures bearing risks of complications short and long-term. This may be an argument to consider any therapeutic strategy against other options such as postponed treatment or permanent suprapubic diversion. Evidence-based guidelines are lacking.
Topics: Anorectal Malformations; Humans; Infant, Newborn; Kidney Diseases; Male; Urethra; Urethral Diseases; Urination
PubMed: 33317944
DOI: 10.1016/j.jpurol.2020.11.032 -
Frontiers in Pediatrics 2021The triad of anorectal malformation (ARM), labioscrotal fold malformation, and perineal mass has rarely been reported before. The purpose of this study was to review...
The triad of anorectal malformation (ARM), labioscrotal fold malformation, and perineal mass has rarely been reported before. The purpose of this study was to review our experience in these patients, describe their characteristics, and discuss the possible pathogenesis. Seven pediatric patients diagnosed with ARM associated with both labioscrotal fold malformation and perineal mass were included in this study. Medical records of these patients were retrospectively reviewed, and follow-up was held through telephone contact or outpatient service. Among the seven patients were six females and one male, and the age at surgery was between 5.2 and 12.4 months. The ratio of lateral-type to mid-perineum-type labioscrotal fold malformation was 5:2. The ARM type was all rectoperineal fistula. Operation was excision of the malformation and perineal mass at the same time of anoplasty. The pathology was lipoma (three cases), fibroma (one case), lipofibroma (one case), angiolipoma (one case), and mesenchymal hamartoma (one case). All the seven patients had no wound complication, and during the follow-up period of 7-100 months after surgery, none of the seven patients suffered perineal mass recurrence. Bowel control was satisfactory in the follow-up period. There is a low incidence for the triad of ARM, labioscrotal fold malformation, and perineal mass. The nature of this disease is neoplastic overgrowth of intervening mesenchymal tissue, which impedes the continuity of caudal development into normal labioscrotal fold and affects the extension of urorectal septum, leading to ARM. Prognosis is mainly dependent on the type of ARM.
PubMed: 33643976
DOI: 10.3389/fped.2021.627188 -
Journal of Korean Medical Science Apr 2020Fifty to sixty percent of patients with anorectal malformation (ARM) have at least one associated anomaly (AA). We determined the incidence of AA with the subtypes of...
BACKGROUND
Fifty to sixty percent of patients with anorectal malformation (ARM) have at least one associated anomaly (AA). We determined the incidence of AA with the subtypes of ARM classified in accordance with the Krickenbeck classification and analyzed differences in the incidence rates of major and minor AAs according to organ system.
METHODS
From January 1999 to May 2017, we retrospectively analyzed congenital anomalies in patients who underwent an anoplasty for ARM at our institution. The AAs were divided into nine organ systems. To analyze the difference in the incidence of AAs, we calculated odds ratios (ORs) using cases of perineal fistula as the base group.
RESULTS
Of the 460 patients, 256 (55.7%) were male, 299 (65%) had at least one anomaly, and 274 (59.6%) had major AAs. According to organ system, AAs were most common in the genitourinary (28%), cardiovascular (25%), and spinal/vertebral systems (22.6%). Major AA was most common in the cardiovascular (23%) and spinal/vertebral and genitourinary systems (19.3%). According to ARM subtype, AAs were common in the order of cloaca (93.9%), rectovaginal fistula (85.7%), and recto-bladder neck fistula (85%). For the incidence of AAs, cloaca (OR, 15.7) and recto-bladder neck fistula (OR, 5.74) showed significantly higher ORs. In the analysis of major AAs, the cloaca (OR, 19.77) showed the highest OR, followed by no fistula (OR, 4.78) and recto-bladder neck fistula (OR, 3.83).
CONCLUSION
A considerable number of patients with ARM had AAs. Our data are useful for predicting AAs in patients with ARM.
Topics: Anorectal Malformations; Birth Weight; Female; Fistula; Humans; Incidence; Male; Retrospective Studies
PubMed: 32281315
DOI: 10.3346/jkms.2020.35.e98 -
Seminars in Pediatric Surgery Dec 2020Anorectal malformations affect 1 in 3000-5000 children, with varied incidences dependent upon geographical location. Accurate assessment, and subsequent targeted... (Review)
Review
Anorectal malformations affect 1 in 3000-5000 children, with varied incidences dependent upon geographical location. Accurate assessment, and subsequent targeted management in the newborn is critical to reducing potential morbidity and mortality. We have focused in this review upon the management of newborns with anorectal malformations, and the evaluation of the potential for long-term fecal continence.
Topics: Abnormalities, Multiple; Anorectal Malformations; Digestive System Surgical Procedures; Fecal Incontinence; Humans; Infant, Newborn; Postoperative Complications; Plastic Surgery Procedures; Reoperation; Treatment Outcome
PubMed: 33288137
DOI: 10.1016/j.sempedsurg.2020.150996 -
The Journal of Maternal-fetal &... Dec 2022This study aimed to investigate clinical, surgical, and genetic data of neonates with anorectal malformation (ARM). (Observational Study)
Observational Study
OBJECTIVE
This study aimed to investigate clinical, surgical, and genetic data of neonates with anorectal malformation (ARM).
STUDY DESIGN
A retrospective observational study was conducted on neonates with ARM as an isolated type (group 1), with ≤2 (group 2), and with ≥3 associated malformations (group 3), born between 2009 and 2020. Distribution of ARM, associated abnormalities and genetic testing were analyzed, and risk factors for adverse outcomes were identified.
RESULTS
The 45 ARM cases (36% females) were divided as follows: 13 neonates belonging to group 1 (29%), 8 to group 2 (18%), and 24 to group 3 (53%). Cases were equally distributed over 11 years. Krickenbeck anatomy was: without fistula/imperforate anus (18%), perineal fistula (36%), rectourethral fistula (4%), rectovesical fistula (2%), vestibular fistula (4%), cloaca (4%), and rare ARMs (31%). Groups showed differences in anthropometric data, Krickenbeck anatomy, and intensive care burden. Additional major congenital abnormalities were prevalent specific of VATER/VACTERL spectrum (vertebral/anorectal/cardiac/tracheoesophageal/renal/limb defects), but also Hirschsprung disease was found in 3/20 biopsies (15%). The most frequent minor abnormality was a single umbilical artery. In group 3, we identified four microdeletions at 8p23.2, 8q13.3, Xp22.31-p22.2, Xq28, four microduplications at 1p36.32, 6p24.1-p23, 13q14.11, 15q11.2, one microdeletion at 9q33.1 inherited from the affected mother, one microdeletion at 7q35 inherited from the unaffected father, one structurally uncharacterized rearrangement involving 9p23-q34.3. Thus, we attributed the Xq28 deletion with inactivated gene in one girl to the X-linked dominant STAR syndrome (toe syndactyly-telecanthus-anogenital/renal malformations).
CONCLUSIONS
Despite the great physical and social burden on ARM patients and their parents, in the majority of cases, the etiology is largely unknown and attributed to be multifactorial. In females, STAR syndrome should be part of the differential diagnosis. Associated malformations of other organ systems interact in outcome parameters.
Topics: Anal Canal; Anorectal Malformations; Female; Humans; Hypertelorism; Infant, Newborn; Kidney; Male; Syndactyly; Toes; Urogenital Abnormalities
PubMed: 36062518
DOI: 10.1080/14767058.2020.1854213 -
The British Journal of Surgery Jan 2024
Review
Topics: Humans; Anal Canal; Anorectal Malformations; Registries; Retrospective Studies
PubMed: 38364059
DOI: 10.1093/bjs/znae019 -
Birth Defects Research Jul 2020I plan to review the types of defects caused by gestational hyperthermia. Hyperthermia-induced malformations in animals and humans involve many organs and structures,... (Review)
Review
OBJECTIVES
I plan to review the types of defects caused by gestational hyperthermia. Hyperthermia-induced malformations in animals and humans involve many organs and structures, particularly the central nervous system, as well as other defects. The type of defect is related to the timing of the hyperthermic insult, and the underlying mechanisms include cell death, membrane disruption, vascular disruption, and placental infarction.
METHODS
Review of recent epidemiologic studies (2005-2020) has confirmed an association between gestational hyperthermia and birth defects.
RESULTS
There are strong associations between neural tube defects and maternal fever, and other studies have demonstrated associations between first trimester hyperthermia and an increased risk for cardiovascular defects, oral clefts, isolated congenital ear defects, cataracts, hypospadias, renal anomalies, possibly anorectal malformations, and congenital anomalies in general, suggesting that this association between maternal hyperthermia and birth defects in humans is causal. The first prospective evaluation of maternal fever was reported in 1998, and this study confirmed findings from previous case-control studies and case series regarding the magnitude and duration of elevated maternal body temperature in relation to an increased risk for neural tube defects as well as a specific pattern of malformation.
CONCLUSIONS
The consistency of findings across these different study designs supports the causal nature of the relationship between maternal fever and specific birth defects. This review summarizes the recent human evidence documenting the gestational effects of maternal hyperthermia.
Topics: Animals; Female; Humans; Hyperthermia; Male; Placenta; Pregnancy; Pregnancy Complications; Pregnancy Trimester, First; Prospective Studies
PubMed: 32686349
DOI: 10.1002/bdr2.1696 -
Journal of Pediatric Surgery Mar 2022Little is known about psychosocial and behavioral factors that impact the quality of life of patient's with anorectal malformations (ARM) and Hirschsprung disease... (Review)
Review
INTRODUCTION
Little is known about psychosocial and behavioral factors that impact the quality of life of patient's with anorectal malformations (ARM) and Hirschsprung disease (HSCR). We aimed to highlight the psychosocial, emotional, and behavioral themes that affect these patients.
METHODS
A qualitative literature review of articles published between 1980 and 2019 was performed. Articles that reported quality of life (QoL) measures not directly related to bowel function and incorporated data on patients aged 0-21 years old were included. Data were separated based on distinct developmental time points.
RESULTS
In the neonatal period, parents relayed uncertainty about the future and feeling overwhelmed by lack of social support. Difficulties with anxiety, peer rejection, and behavioral problems were noted in primary grades, while adolescents experienced low self-confidence, poor body image, and depression. Young adults expressed hesitancy to engage in romantic relationships or sexual activity. Lack of long-term follow-up, an incomplete transition to adult healthcare, and lack of psychology services leave young adults without guidance to manage a chronic condition.
CONCLUSION
Multiple psychosocial stressors are present in the lives of ARM and HSCR patients. Provision of developmentally matched medical, psychological, and community-based supports for ARM and HSCR patients and their families can lead to improved QoL.
Topics: Adolescent; Adult; Anorectal Malformations; Child; Child, Preschool; Hirschsprung Disease; Humans; Infant; Infant, Newborn; Parents; Quality of Life; Social Support; Young Adult
PubMed: 34127258
DOI: 10.1016/j.jpedsurg.2021.05.004 -
Healthcare Burden and Cost in Children with Anorectal Malformation During the First 5 Years of Life.The Journal of Pediatrics Jan 2022To identify cumulative 5-year healthcare costs and healthcare days in children with anorectal malformation (ARM) and to compare the cumulative 5-year healthcare costs... (Comparative Study)
Comparative Study
OBJECTIVE
To identify cumulative 5-year healthcare costs and healthcare days in children with anorectal malformation (ARM) and to compare the cumulative 5-year healthcare costs and healthcare days in children with ARM with 3 control cohorts: healthy, premature, and congenital heart disease (CHD).
STUDY DESIGN
We performed a retrospective case-control study using the Truven MarketScan database of commercial claims encounters between 2008 and 2017. The ARM, CHD, and premature cohorts were identified using a targeted list of International Classification of Diseases 9th or 10th Revision diagnosis and Current Procedural Terminology codes. The healthy cohort included patients without ARM, preterm birth, or CHD.
RESULTS
We identified 664 children with ARM, 3356 children with heart disease, 63 190 children who were born preterm, and 2947 healthy patients. At 5 years, the total healthcare costs of children with ARM ($273K, 95% CI $168K-$378K) were similar to the premature cohort ($246K, 95% CI $237K-$255K) and lower than the CHD cohort ($466K, 95% CI $401K-$530K, P < .001). Total healthcare days were similar in children with ARM (158 days, 95% CI 117-198) and prematurity (141 days, 95% CI 137-144) but lower than CHD (223 days, 95% CI 197-250, P = .02). In ARM, outpatient care (126 days, 95% CI 93-159) represented the largest contribution to total healthcare days.
CONCLUSIONS
Children with ARM accumulate similar healthcare costs to children with prematurity and comparable healthcare days to children with CHD and prematurity in the first 5 years of life. Outpatient care represents the majority of healthcare days in children with ARM, identifying this as a target for quality improvement and demonstrating the long-term impact of this condition.
Topics: Anorectal Malformations; Case-Control Studies; Child, Preschool; Health Care Costs; Humans; Infant; Infant, Newborn; Infant, Premature; Retrospective Studies; United States
PubMed: 34487770
DOI: 10.1016/j.jpeds.2021.08.083