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Pediatric Surgery International Feb 2024The purpose of surgeries performed for congenital anomalies in children is to increase the survival rates and provide a developmental comparison to that of their peers.
BACKGROUND
The purpose of surgeries performed for congenital anomalies in children is to increase the survival rates and provide a developmental comparison to that of their peers.
AIM
The objective of this study was to investigate the development of children following surgery for congenital anomalies and the risk factors affecting their development.
METHODS
Our study included 33 children who underwent surgery for gastrointestinal anomalies in our clinic between 2011 and 2016, and did not have any syndrome, chromosomal abnormality, or additional abnormality. Developmental levels were evaluated using the Ages and Stages Questionnaire (ASQ) and the ASQ: Social-Emotional (ASQ: SE) scales adapted for the use on Turkish children. Data on patient history were obtained retrospectively from patient files.
RESULTS
The study included 33 patients, including 11 with esophageal atresia, 6 with intestinal atresia, 11 with anorectal malformation, and 5 with Hirschsprung's disease. Developmental delay was found in the ASQ of 72.7% of the patients and the ASQ: SE tool was 27% of the patients. The rate of patients with scores below the threshold from each parameter of ASQ was higher than that of the normal population (p < 0.05). Development delay was detected using the ASQ scale in 100% of those with microcephaly at birth, in 91% of premature infants born between 1500 and 2500 g, and in 83.3% of those with low birth weight to gestational age.
CONCLUSIONS
In children who underwent surgery due to congenital anomalies, an evaluation through developmental tests, a post-surgical follow-up process, and a referral to the relevant disciplines when necessary may increase the success of surgery as well as increase the life quality of the patient.
Topics: Infant, Newborn; Child; Infant; Humans; Retrospective Studies; Esophageal Atresia; Hirschsprung Disease; Anorectal Malformations; Ambulatory Care Facilities
PubMed: 38300305
DOI: 10.1007/s00383-023-05625-5 -
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 -
European Journal of Pediatric Surgery :... Apr 2024Patient-reported outcome measures (PROMs) can be employed in both research and clinical care to enhance our understanding of outcomes that matter to patients. This... (Review)
Review
A Narrative Review of Patient-Reported Outcome Measures and Their Application in Recent Pediatric Surgical Research: Advancing Knowledge and Offering New Perspectives to the Field.
INTRODUCTION
Patient-reported outcome measures (PROMs) can be employed in both research and clinical care to enhance our understanding of outcomes that matter to patients. This narrative review aims to describe PROM use in recent pediatric surgical research, identify and describe psychometrically robust PROMs, providing an overview of those derived from pediatric patient input, and make recommendations for future research.
MATERIALS AND METHODS
A search was conducted to identify articles published from 2021 to August 2023 describing the availability and/or use of at least one valid or reliable PROM in children with conditions including anorectal malformations, biliary atresia, congenital diaphragmatic hernia, duodenal atresia, esophageal atresia, abdominal wall defects, Hirschsprung's disease, sacrococcygeal teratoma, and short bowel syndrome. Articles were categorized based on their objectives in applying PROMs. Psychometrically robust PROMs were identified and described.
RESULTS
Out of the 345 articles identified, 49 met the inclusion criteria. Seventeen focused on esophageal atresia and 14 on Hirschsprung's disease. Twenty-nine PROMs were identified, with 12 deemed psychometrically robust. Seven psychometrically robust PROMs were developed using patient input in the primary item generation. Most PROMs were applied to advance understanding of conditions and/or treatment and fewer were developed or psychometrically evaluated. No PROMs were assessed for their impact or incorporated into an implementation study.
CONCLUSIONS
This review reveals gaps in the application of PROMs in recent pediatric surgical research. Emphasis should be placed on the development and utilization of psychometrically robust PROMs, broadening the scope of covered diseases, conducting impact assessments, and evaluating implementation strategies.
Topics: Humans; Child; Quality of Life; Hirschsprung Disease; Patient Reported Outcome Measures; Short Bowel Syndrome
PubMed: 38272041
DOI: 10.1055/s-0043-1778108 -
African Journal of Paediatric Surgery :... Jan 2024Penile agenesis is complete absence of the penis in an otherwise normal phenotypic and genotypic male at birth that results from failure of development of the genital... (Review)
Review
Penile agenesis is complete absence of the penis in an otherwise normal phenotypic and genotypic male at birth that results from failure of development of the genital tubercle. It is an extremely rare anomaly that may be associated with anomalies in other organ systems, the extent and severity of which may affect the prognosis. The management is challenging and may have far reaching implications for the individual and family. While gender reassignment with bilateral orchidectomy and feminising genitoplasty has been carried out for most patients, significant psychosexual and social issues related to the male identity may occur due to foetal or postnatal sex steroid imprinting. We report a neonate with penile agenesis with bilateral renal agenesis and anorectal malformation.
Topics: Infant, Newborn; Humans; Male; Anorectal Malformations; Kidney Diseases; Genotype; Genitalia; Congenital Abnormalities; Kidney
PubMed: 38259027
DOI: 10.4103/ajps.ajps_81_22 -
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 -
African Journal of Paediatric Surgery :... Jan 2024Rectal prolapse is a relatively common, usually self-limiting illness in children. Peak incidence is between 1 and 3 years. The primary treatment of rectal prolapse is... (Randomized Controlled Trial)
Randomized Controlled Trial
BACKGROUND
Rectal prolapse is a relatively common, usually self-limiting illness in children. Peak incidence is between 1 and 3 years. The primary treatment of rectal prolapse is non-operative. Surgical intervention is needed in long-standing intractable cases of rectal prolapse, rectal pain/bleeding/ulceration and prolapse that needs frequent manual or difficult reduction. The aim of this study was to compare the efficacy and outcome of laparoscopic ventral mesh rectopexy versus laparoscopic suture rectopexy in the management of persistent rectal prolapse in children not responding to conservative management and/or recurrent after sclerotherapy or anal encirclement.
MATERIALS AND METHODS
Twenty-four cases were randomised into two groups at the ratio of 1:1, Group 1 patients were managed by laparoscopic ventral mesh rectopexy, whereas Group 2 cases were managed by laparoscopic suture rectopexy. Patients with primary surgical conditions such as anorectal malformations, Hirschsprung's disease, rectal polyps or masses and Ectopia Vesicae were excluded from the study. Inclusion criteria were complete rectal prolapse cases with failed medical treatment for at least 6 months and/or recurrent after injection sclerotherapy or anal encirclement.
RESULTS
In the mesh rectopexy group, one case had recurrence in the form of partial prolapse 3 weeks postoperatively which improved 2 months postoperatively with conservative management, one case had bleeding per rectum 2 months postoperatively, stool analysis was done revealing parasitic infestation which was treated medically. In the suture rectopexy group, one case had one attack of bleeding per rectum on the 2nd day postoperatively which resolved spontaneously and one case was readmitted on the 5th day postoperatively for non-bilious vomiting which improved by medical treatment. No recurrent cases of complete rectal prolapse were reported in both groups.
CONCLUSION
Laparoscopic rectopexy can be an effective modality for the treatment of refractory complete rectal prolapse in children. It is effective, safe and easy. Although the current study has shown that laparoscopic suture rectopexy and mesh rectopexy have nearly the same results, a larger number of patients are needed to compare more deeply between the two groups.
Topics: Child; Humans; Rectum; Rectal Prolapse; Surgical Mesh; Digestive System Surgical Procedures; Neurosurgical Procedures
PubMed: 38259016
DOI: 10.4103/ajps.ajps_92_22 -
African Journal of Paediatric Surgery :... Jan 2024Transanal endorectal pull-through (TERPT) has become one of the preferred treatments for Hirschsprung's disease (HD) in our setting. This report aims to evaluate the...
BACKGROUND
Transanal endorectal pull-through (TERPT) has become one of the preferred treatments for Hirschsprung's disease (HD) in our setting. This report aims to evaluate the current outcome of TERPT in the setting.
MATERIALS AND METHODS
A retrospective review of 71 children who had TERPT for histologically-confirmed HD in 11 years (2006-2017) in Nigeria.
RESULTS
There were 48 boys and 23 girls; aged 3 days-12 years at initial presentation (median = 10 months). Three (4.2%) patients had associated anomalies (duodenal atresia; anorectal malformation and sensorineural deafness with hypopigmented skin patches each). Age at TERPT was 2 months to 15 years (median = 3 years), with surgery waiting time of 1 month-14.9 years (median = 18 months). Sixty-six (93.0%) patients had rectosigmoid, four (5.6%) patients had long segment and one (1.4%) had total colonic disease. Five (7.0%) patients with large megacolon and one (1.4%) with the total colonic disease had assisted abdominal resection of the colon at TERPT. Seventeen (23.9%) patients had post-operative complications, including post-operative enterocolitis 8 (11.3%); anastomotic dehiscence 3 (4.2%); retained aganglionic segment 2 (2.8%); anastomotic stenosis 2 (2.8%), resulting in prolonged hospital stay (P = 0.0001; range = 1-30 days; median = 5 days). The mortality rate was 4.2% (3) from malignant hyperthermia in one patient and in 2 patients, the cause of mortality was unclear. Patients were followed up for 3-6 years (median = 3.5 years). Bowel movement stabilised to 2-4 times daily by 6 weeks after surgery.
CONCLUSION
TERPT is a safe treatment for HD in this setting with good short-term outcomes. Longer follow-up is necessary to further evaluate the long-term bowel movement outcomes.!
Topics: Male; Child; Female; Humans; Hirschsprung Disease; Colonic Diseases; Anastomosis, Surgical; Anorectal Malformations
PubMed: 38259012
DOI: 10.4103/ajps.ajps_93_22 -
Frontiers in Medicine 2023Intussusception refers to the invagination of a proximal loop of the bowel into an adjacent distal segment. This condition is rare in adults, especially when it involves...
Intussusception refers to the invagination of a proximal loop of the bowel into an adjacent distal segment. This condition is rare in adults, especially when it involves a complete folding of the ileocecal area out of the body cavity. Meanwhile, enterogenous cysts are congenital malformations that are largely identified in childhood following symptoms of bowel obstruction. While surgical treatment is ultimately required for both diseases, deciding on the type of surgery and the right time to operate can be a challenge for clinicians. It is especially difficult to decide on treatment for an adult with the coincidental occurrence of both conditions and no definitive pathologic diagnosis prior to surgery. Here, we present the case study of a 19-year-old female patient who presented with a prolapsed anus due to intussusception caused by a large ileocecal mass. The patient was admitted to the emergency department with a "massive anal mass." She remained symptomatic after receiving conventional conservative treatment and had to undergo emergency surgery after developing an intestinal obstruction. While the patient's intraoperative condition also confirmed the preoperative CT findings, the situation became more complicated during surgery. The postoperative pathological report indicated the presence of an enterogenous cyst. After recovery from surgery, the patient was successfully discharged. Intussusception or intestinal obstruction caused by an intestinal mass is a surgical indication, and removal is the only way to cure the condition. This case study provides a helpful reference for general surgeons, especially anorectal surgeons, imaging physicians, and pathologists, and informs the diagnosis and treatment of this patient population.
PubMed: 38249983
DOI: 10.3389/fmed.2023.1324792 -
BMC Pediatrics Jan 2024To analyze the clinical characteristics and types of congenital heart defect (CHD) in mild congenital anorectal malformation (CARM), namely the rectoperineal and...
OBJECTIVE
To analyze the clinical characteristics and types of congenital heart defect (CHD) in mild congenital anorectal malformation (CARM), namely the rectoperineal and rectovestibular fistulas.
METHODS
The retrospective study of 183 patients with mild CARM was conducted with assessments of demographic information, color Doppler echocardiography results, and follow-up data. We performed an analysis of the clinical characteristics of CHD, grouping them based on sex and type of mild CARM.
RESULTS
Of the 183 patients, rectoperineal fistula occurred in 133 patients (72.7%), while the frequency of CHD was 79.8% (146/183). Ventricular septal defects (VSDs) occur more frequently in patients with rectoperineal fistula compared to those with rectovestibular fistula (1.5% vs. 10%), while the opposite trend was observed for patent ductus arteriosus (PDAs) (39.8% vs. 22.0%). Additionally, males presented higher frequency of PDA (42.7% vs. 26.4%) and self-healing (6 months: 87.2% vs. 42.6%; 12 months: 91.0% vs. 63.2%) than females. However, males had a lower rate of undergoing cardiac surgery (6.4% vs. 17.6%) and a younger median diagnosis age (1 day vs. 9 days).
CONCLUSION
Our study indicates that there is a necessity for meticulous cardiac assessment and follow-up in neonates diagnosed with mild CARM.
Topics: Infant, Newborn; Male; Female; Humans; Anorectal Malformations; Retrospective Studies; Heart Defects, Congenital; Ductus Arteriosus, Patent; Fistula
PubMed: 38245711
DOI: 10.1186/s12887-023-04518-9 -
Cureus Dec 2023The present study aimed to review the treatment experience and outcomes of Currarino syndrome (CS) complicated with anorectal stenosis to evaluate the current treatment...
PURPOSE
The present study aimed to review the treatment experience and outcomes of Currarino syndrome (CS) complicated with anorectal stenosis to evaluate the current treatment strategies.
METHODS
Seven cases of CS complicated with anorectal stenosis, treated at our hospital between 1998 and 2021, were retrospectively investigated. This is a case series article from a single institution.
RESULTS
In six and three cases and one case, the presacral mass was a mature teratoma, meningocele, and lipoma, respectively. Resection of the lesion was performed in all six cases of mature teratoma, and duraplasty was performed before resection in all three cases of meningocele. Moreover, surgery for anorectal stenosis was performed simultaneously in four patients. Surgery was performed for six cases of anorectal stenosis, with the remaining case relieved by dilation using a metal bougie. The surgical methods used were a partial resection with end-to-end anastomosis, anorectal strictureplasty, pull-through, posterior sagittal anorectoplasty, and cutback after mass resection. Pathological analysis of the anorectal stenoses revealed disorganized and rough smooth muscle fibers and the replacement of the stroma by an increased quantity of collagen fibers.
CONCLUSIONS
The clinical outcomes of CS can be improved by establishing a treatment flow chart and understanding the complicated pathophysiology of the disease.
PubMed: 38226073
DOI: 10.7759/cureus.50512