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Archives de Pediatrie : Organe Officiel... Apr 2024
Topics: Humans; Esophageal Atresia; Anorectal Malformations; Duodenal Obstruction; Intestinal Atresia
PubMed: 38485570
DOI: 10.1016/j.arcped.2023.10.013 -
Pediatric Radiology Jan 2024In recent decades, magnetic resonance imaging (MRI) has gained prominence as a standard diagnostic method for preoperative assessment in patients with anorectal...
BACKGROUND
In recent decades, magnetic resonance imaging (MRI) has gained prominence as a standard diagnostic method for preoperative assessment in patients with anorectal malformations and a colostomy, with the potential to replace the classic fluoroscopic distal pressure colostogram (FDPC). Three MRI techniques are available: MRI-distal pressure colostogram with gadolinium (MRI-DPCG) or saline (MRI-DPCS) instillation into the colostomy and native MRI without colostomy instillation.
OBJECTIVE
To evaluate and compare the diagnostic accuracy of MRI (native MRI, MRI-DPCG and MRI-DPCS) in the preoperative workup of boys with an anorectal malformation and a colostomy and to compare it to FDPC.
MATERIALS AND METHODS
Sixty-two boys with preoperative MRI using one of the three approaches and 43 with FDPC met the inclusion criteria for this retrospective study. The presence and localization of rectal fistulas according to the Krickenbeck classification were evaluated and compared with intraoperative findings.
RESULTS
The accuracy of fistula detection for MRI in general (regardless of the technique), MRI-DPCS, MRI-DPCG, native MRI and FDPC was 95% (59/62, P<0.001), 100% (12/12, P=0.03), 100% (30/30, P<0.001), 85% (17/20, P=0.41) and 72% (31/43, P=0.82), respectively. The accuracy of describing fistula type in patients with a correctly detected fistula using these methods was 96% (45/47, P<0.001), 100% (9/9, P<0.001), 100% (23/23, P<0.001), 87% (13/15, P<0.001) and 67% (13/21, P=0.002), respectively.
CONCLUSION
MRI is a reliable method for detecting and classifying fistulas in boys with an anorectal malformation and a colostomy and can be considered the modality of first choice for preoperative workup.
Topics: Male; Humans; Anorectal Malformations; Rectum; Colostomy; Retrospective Studies; Magnetic Resonance Imaging; Rectal Fistula; Magnetic Resonance Spectroscopy
PubMed: 38038736
DOI: 10.1007/s00247-023-05816-1 -
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 Pediatric Surgery Jun 2024Despite the initiation of minimally invasive laparoscopic techniques, the majority of patients who undergo anorectal malformation repair still experience functional...
BACKGROUND
Despite the initiation of minimally invasive laparoscopic techniques, the majority of patients who undergo anorectal malformation repair still experience functional bowel issues in childhood, including constipation and fecal incontinence. In this study, we evaluate the functional outcomes of a procedure in which magnetic resonance imaging guidance is used during initial laparoscopic repair to better locate the epicenter of the sphincter muscle complex and pelvic floor with the goal of more accurate placement of the neoanus and improved functional outcomes.
METHODS
A retrospective chart review evaluated demographic, operative, and outcome details for patients who underwent this procedure. A telephone survey was employed to determine levels of social continence using the validated Baylor Continence Scale and to determine what type of bowel management is used.
RESULTS
Twenty-six patients were included. Median age at operation was 7 months, and median age at follow-up was 4 years old, with a range of 1-9. Bowel management regimen results revealed that 19 % (n = 5) use no bowel management regimen, 58 % (n = 15) use laxatives only, and 23 % (n = 6) use enemas. Enema use was not associated with different spine or sacral anomalies (p = 0.77). Fifteen patients (58 %) answered the Baylor Continence Scale questions and had a median score of 14. No difference was found in scores when accounting for lesion level (p = 0.43), quality of needle placement (p = 0.46), or quality of sphincter muscles (p = 0.75).
CONCLUSIONS
Using MRI guidance in the repair of anorectal malformations shows promise in both the qualitative and quantitative functional outcomes of this complex patient population.
LEVEL OF EVIDENCE
Level III.
Topics: Humans; Retrospective Studies; Male; Female; Magnetic Resonance Imaging; Anorectal Malformations; Fecal Incontinence; Infant; Child, Preschool; Treatment Outcome; Laparoscopy; Follow-Up Studies; Constipation; Anal Canal; Child; Surgery, Computer-Assisted; Rectum; Postoperative Complications; Enema; Anus, Imperforate; Laxatives
PubMed: 38195357
DOI: 10.1016/j.jpedsurg.2023.12.023 -
Brain and Nerve = Shinkei Kenkyu No... Aug 2023Currarino syndrome is characterized by a triad of anorectal malformations, sacral defects, and presacral masses. Although it is not extremely rare, this report presents...
Currarino syndrome is characterized by a triad of anorectal malformations, sacral defects, and presacral masses. Although it is not extremely rare, this report presents a surgical case of Currarino syndrome with syringomyelia and discusses related literature. The patient is a girl, aged 2 years and 2 months, who presented with marked constipation, chronic cystitis, and lower limb weakness. After examining the patient through magnetic resonance imaging, we diagnosed her with rectal compression due to meningocele and syringomyelia. The base of the meningocele was detached, and the spinal cord was untethered. One week after surgery, her lower limb weakness and constipation improved. Following up on symptoms and performing imaging is essential to determine a treatment plan for Currarino syndrome. (Received 28 February, 2023; Accepted 22 March, 2023; Published 1 August, 2023).
Topics: Humans; Female; Syringomyelia; Meningocele; Rectum; Constipation; Magnetic Resonance Imaging; Muscle Weakness
PubMed: 37537744
DOI: 10.11477/mf.1416202452 -
Journal of Pediatric Nursing May 2024Anorectal malformation (ARM) or Hirschsprung's disease (HD) in children impact on parents' burden of care and quality of life (QoL). The aim of this study was to...
BACKGROUND
Anorectal malformation (ARM) or Hirschsprung's disease (HD) in children impact on parents' burden of care and quality of life (QoL). The aim of this study was to investigate the relationship between caregiver burden and QoL in parents of children with ARM or HD.
DESIGN AND METHODS
This cross-sectional study was conducted with 51 parents who completed the Zarit Burden Inventory (ZBI) and World Health Organization Quality of Life Scale-Short Form Turkish Version (WHOQOL-BREF-TR).
RESULTS
The mean (±SD) ZBI score was 33.6 (±12.7), and 47.1% of parents (n = 24) perceived their caregiver burden as mild, 31.4% (n = 16) as moderate, and 3.9% (n = 2) as severe. According to the multivariate linear regression, associated anomalies (β = 5.912), family income (β = -6.007), stoma care (β = 8.287), and diagnosis were identified to be significant determinants of caregiver burden. A negative, moderate, and significant relationship was identified between the ZBI scores and the physical domain (r = -0.417, p < .01), psychological domain (r = -0.421, p < .01), social relations domain (r = -0.398, p < .01), and environmental domain (r = -0.495, p < .01) scores of the WHOQOL-BREF-TR.
CONCLUSIONS
The mothers perceived their caregiver burden as mild. However, a significant number of parents suffer from moderate to heavy caregiver burden. An increase in the caregiver burden of parents reduces their quality of life.
PRACTICE IMPLICATIONS
Heightened awareness of the potential for caregiver burden and its association with quality of life among parents of children with ARM and HD may contribute to improved.
PubMed: 38729895
DOI: 10.1016/j.pedn.2024.05.005 -
Pediatric Surgery International Jul 2023To assess fertility concerns and to describe pregnancy outcomes in patients with anorectal malformations (ARM).
PURPOSE
To assess fertility concerns and to describe pregnancy outcomes in patients with anorectal malformations (ARM).
METHODS
This is an IRB approved, cross-sectional study of patients in the Adult Colorectal Research Registry who completed reproductive health surveys between November 2021 and August 2022. Patients assigned female at birth with age 18 or older and ARM were included.
RESULTS
Sixty-four patients with ARM, age 18 or older, were included. Fertility concerns were reported in 26 (40.6%) patients, 11 of which had seen a fertility specialist, including four who had not yet tried to conceive. Fertility concerns were highest amongst cloaca patients who had not yet tried to conceive (37.5%). 26 (40.6%) patients had tried to conceive, of which 16 (25%) reported fertility problems, most frequently uterine abnormalities and damaged or blocked fallopian tubes. 22 (34.4%) participants were able to conceive and 18 (28.1%) had at least one live birth. Patients with ARM who had concerns of fertility, had better FertiQoL when compared to published reference scores for patients experiencing fertility issues.
CONCLUSION
Providers should be aware of fertility concerns in patients with ARM. Proactive counseling with referrals to a fertility specialist should be considered in patients who desire future fertility.
Topics: Pregnancy; Adult; Infant, Newborn; Humans; Female; Adolescent; Anorectal Malformations; Cross-Sectional Studies; Fertility; Pregnancy Outcome; Urogenital Abnormalities
PubMed: 37422894
DOI: 10.1007/s00383-023-05510-1 -
Journal of Pediatric Surgery Oct 2023Registries are important in rare disease research. The Anorectal Malformation Network (ARM-Net) registry is a well-established European patient registry collecting...
BACKGROUND
Registries are important in rare disease research. The Anorectal Malformation Network (ARM-Net) registry is a well-established European patient registry collecting demographic, clinical, and functional outcome data. We assessed the quality of this registry through review of the structure, data elements, collected data, and user experience.
MATERIAL AND METHODS
Design and data elements were assessed for completeness, consistency, usefulness, accuracy, validity, and comparability. An intra- and inter-user variability study was conducted through monitoring and re-registration of patients. User experience was assessed via a questionnaire on registration, design of registry, and satisfaction.
RESULTS
We evaluated 119 data elements, of which 107 were utilized and comprised 42 string and 65 numeric elements. A minority (37.0%) of the 2278 included records had complete data, though this improved to 83.5% when follow-up elements were excluded. Intra-observer variability demonstrated 11.7% incongruence, while inter-observer variability was 14.7%. Users were predominantly pediatric surgeons and typically registered patients within 11-30 min. Users did not experience any significant difficulties with data entry and were generally satisfied with the registry, but preferred more longitudinal data and patient-reported outcomes.
CONCLUSIONS
The ARM-Net registry presents one of the largest ARM cohorts. Although its collected data are valuable, they are susceptible to error and user variability. Continuous evaluations are required to maintain relevant and high-quality data and to achieve long-term sustainability. With the recommendations resulting from this study, we call for rare disease patient registries to take example and aim to continuously improve their data quality to enhance the small, but impactful, field of rare disease research.
LEVEL OF EVIDENCE
V.
Topics: Child; Humans; Rare Diseases; Registries; Data Accuracy; Surveys and Questionnaires; Anorectal Malformations; Data Collection
PubMed: 37045715
DOI: 10.1016/j.jpedsurg.2023.02.049 -
European Journal of Preventive... Jun 2024Current guidelines advise against the use of lipid-lowering drugs during pregnancy. This is based only on previous observational evidence demonstrating an association...
AIMS
Current guidelines advise against the use of lipid-lowering drugs during pregnancy. This is based only on previous observational evidence demonstrating an association between statin use and congenital malformations, which is increasingly controversial. In the absence of clinical trial data, we aimed to use drug-target Mendelian randomization to model the potential impact of fetal LDL-lowering, overall and through PCSK9 drug targets, on congenital malformations.
METHODS AND RESULTS
Instrumental variants influencing LDL levels overall and through PCSK9-inhibitor drug targets were extracted from genome-wide association study (GWAS) summary data for LDL on 1 320 016 individuals. Instrumental variants influencing circulating PCSK9 levels (pQTLs) and liver PCSK9 gene expression levels (eQTLs) were extracted, respectively, from a GWAS on 10 186 individuals and from the genotype-tissue expression project. Gene-outcome association data was extracted from the 7th release of GWAS summary data on the FinnGen cohort (n = 342 499) for eight categories of congenital malformations affecting multiple systems. Genetically proxied LDL-lowering through PCSK9 was associated with higher odds of malformations affecting multiple systems [OR 2.70, 95% confidence interval (CI) 1.30-5.63, P = 0.018], the skin (OR 2.23, 95% CI 1.33-3.75, P = 0.007), and the vertebral, anorectal, cardiovascular, tracheo-esophageal, renal, and limb association (VACTERL) (OR 1.51, 95% CI 1.16-1.96, P = 0.007). An association was also found with obstructive defects of the renal pelvis and ureter, but this association was suggestive of horizontal pleiotropy. Lower PCSK9 pQTLs were associated with the same congenital malformations.
CONCLUSION
These data provide genetic evidence supporting current manufacturer advice to avoid the use of PCSK9 inhibitors during pregnancy.
Topics: Humans; Cholesterol, LDL; Female; Genome-Wide Association Study; Proprotein Convertase 9; PCSK9 Inhibitors; Mendelian Randomization Analysis; Pregnancy; Risk Factors; Abnormalities, Drug-Induced; Biomarkers; Risk Assessment; Serine Proteinase Inhibitors; Genetic Predisposition to Disease; Phenotype; Polymorphism, Single Nucleotide; Anticholesteremic Agents
PubMed: 38294056
DOI: 10.1093/eurjpc/zwad402 -
Cureus Jul 2023Transanal irrigation (TAI) improves bowel function and quality of life in patients with neurogenic bowel disease compared to conservative bowel care. Its use has been...
INTRODUCTION
Transanal irrigation (TAI) improves bowel function and quality of life in patients with neurogenic bowel disease compared to conservative bowel care. Its use has been extended to a range of defecatory disorders. However, data on long-term benefits and compliance are lacking. We aim to evaluate the long-term efficacy of TAI by examining compliance and patient outcomes over a five-year period.
METHODS
This study is a five-year retrospective review of patients practising TAI in a district general hospital. Patient demographics, indications, long-term compliance, adverse events, and patient-reported Qufora bowel symptom bother scores were analysed.
RESULTS
A cohort of 18 patients had a median age of 61 (range 23-91) and were predominantly female (83.5%). The reasons for bowel dysfunction were diverse: low anterior resection syndrome, neurogenic bowel, congenital anorectal malformations, obstructed defecation, and functional disorders. Predominant symptoms were constipation (9), faecal incontinence (7), and mixed (2). Both high-volume (catheter and cone) and low-volume (mini cone) irrigation devices were used. Fourteen patients continued regular irrigation at a median follow-up of 27.7 months (range 5.1-72.3), while four had discontinued at a median follow-up of 4.8 months. The reasons for discontinuation were inadequate rectal evacuation and spontaneous improvement of symptoms. In the compliant group, there was a significant improvement in bowel symptom scores (p=0.003). No major adverse events, such as significant rectal bleeding or perforation, were noted.
CONCLUSION
In this small cohort, TAI was safe and effective for long-term use; however, a fifth of patients discontinued treatment. Further work needs to be done to identify those patients who will benefit from TAI.
PubMed: 37502470
DOI: 10.7759/cureus.42507