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Journal of Pediatric Urology Mar 2024To evaluate the possible impact of patients' sacral ratios (SRs) on response to biofeedback (BF) therapy in pediatric patients with lower urinary tract dysfunction...
INTRODUCTION
To evaluate the possible impact of patients' sacral ratios (SRs) on response to biofeedback (BF) therapy in pediatric patients with lower urinary tract dysfunction (LUTD).
MATERIALS AND METHODS
In this retrospective cohort conducted from 2016 to 2018 in our tertiary medical center, we included the medical records of all pediatric patients with LUTD who were nominated for BF due to having abnormal uroflowmetry patterns and simultaneous increase in electromyography (EMG) activity. Ten sessions of weekly animated BF were performed for each patient. All patients underwent a complete urological evaluation, uroflowmetry with simultaneous EMG and post-void residual measurement before and after treatment. SRs were calculated based on plain anteroposterior lumbosacral radiographs. Patients were then divided into normal SR (≥0.74) and low SR (<0.74) and outcomes were compared between them.
RESULTS
Of the total 86 patients included in our study, 48 (55.8%) had a normal SR (≥0.74), while 38 (44.2%) had a low SR (<0.74). Our data revealed that BF therapy significantly improved maximum and average urinary flow rates, urine volume, daytime urinary incontinence, enuresis, urinary urgency and constipation; irrespective of the patients' SRs (all P < 0.001). Our between-groups analyses showed that after the completion of BF, the SR ≥ 0.74 group had significantly higher maximum urinary flow rate (mean difference [95%CI]: 7.7 [5.4, 10.0], P < 0.001) (Figure) and urine volume (mean difference [95%CI]: 49.9 [19.5, 80.4], P = 0.002) and significantly lower diurnal urinary incontinence (4.2% vs. 21.1%, P = 0.020), enuresis (4.2% vs. 18.4%, P = 0.040) and constipation (2.1% vs. 23.7%, P = 0.004) compared to the SR < 0.74 group.
DISCUSSION
SR has been proposed as a reliable indicator of bony pelvis growth and subsequent lumbosacral neurodevelopment. Additionally, larger SR values are associated with better postoperative sphincter function in children with urological and anorectal malformations. Our results demonstrated that after completion of BF, the normal SR group had a significantly better improvement of some of the uroflowmetry indicators and LUTD-associated symptoms compared to the low SR group.
CONCLUSION
Our findings implied that although BF therapy is an efficient treatment for children with LUTD, irrespective of their sacral development; children with enhanced sacral development may benefit from better clinical response, especially in terms of LUTD-associated symptoms.
PubMed: 38604908
DOI: 10.1016/j.jpurol.2024.03.025 -
Pediatric Surgery International Apr 2024Children with congenital anorectal malformation (CAM) experience challenges with defecation. This study aims to assess defecation in preschool-age children with CAM and...
OBJECTIVE
Children with congenital anorectal malformation (CAM) experience challenges with defecation. This study aims to assess defecation in preschool-age children with CAM and to evaluate the correlation between pelvic floor muscle developed assessed by magnetic resonance imaging (MRI) and postoperative defecation.
METHODS
We collected clinical data and MRI results from 89 male children with CAM. The bowel function scores for children with Perineal (cutaneous) fistula, Rectourethral fistula(Prostatic or Bulbar), and Rectovesical fistula were computed. MRI scans were subjected to image analysis of the striated muscle complex (SMC). The association between pelvic floor muscle score and bowel function score was examined using the Cochran-Armitage Trend Test.
RESULTS
We observed that 77.4% of the SMC scores by MRI for Perineal fistula were good. The Rectourethral fistula SMC score was 40.6% for moderate and 59.4% for poor. The SMC score for Rectovesical fistula was 100% for moderate. Furthermore, 77.4% of patients with Perineal fistula had bowel function scores (BFS) ≥ 17 points. Among those with Rectourethral fistula and Rectovesical fistula, 12.5% and 0 had BFS ≥ 17 points, respectively. An analysis of muscle development and bowel function in patients with Rectovesical fistula, Rectourethral fistula, and Perineal fistula revealed a correlation between SMC development and BFS. Subgroup analysis showed that the Perineal fistula had statistical significance; however, the Rectourethral fistula and Rectovesical fistula were not statistically significant.
CONCLUSION
A correlation exists between pelvic floor muscle development and postoperative defecation in children with Perineal fistula.
Topics: Child; Child, Preschool; Humans; Male; Rectum; Defecation; Pelvic Floor; Rectal Fistula; Anorectal Malformations; Anal Canal; Urinary Fistula; Urinary Bladder Fistula; Urethral Diseases; Magnetic Resonance Imaging
PubMed: 38600320
DOI: 10.1007/s00383-024-05691-3 -
International Journal of General... 2024Children with DS are at higher risk of developing congenital anomalies, particularly cardiac anomalies.
BACKGROUND
Children with DS are at higher risk of developing congenital anomalies, particularly cardiac anomalies.
METHODS
Medical records of 502 DS patients were reviewed. The logistic regression analyses were performed to determine independent predictors.
RESULTS
Of the total 502 study subjects, 53.4% were males. Only 1.4% of the DS case diagnosis were confirmed by karyotyping. All cases were diagnosed postnatally. The median age at DS diagnosis was 5 months. About 13% were born preterm; 50.2% of the subjects maternal age at conception were thirty-five years and above. Over three-quarters (75.1%) had at least one structural congenital anomaly. Multiple anomalies were diagnosed in 12.8% of the subjects. At least one cardiac congenital anomaly was diagnosed in 67.3% of the study subjects, and 32.8% of them were diagnosed with multiple cardiac anomalies. Patent ductus arteriosus (28.5%), Ventricular septal defect (23.2%), and AVSD (21.9%) were the three common lesions. At least one genitourinary system anomaly was identified in 32 (6.4%) of them. Roughly, 8% of study participants exhibited congenital anomaly of the head, eye, nose, and throat. Anorectal malformation was found as the most common gastrointestinal anomaly. Maternal age at conception was found as independent predictor for presence of structural congenital anomaly (AOR 2.59; 95% CI 1.58-4.23, p-value < 0.01). Advanced maternal age is also found increasing the risk of developing congenital heart defect (AOR 2.37; 95% CI 1.52-3.7, p-value < 0.01).
CONCLUSION
High prevalence of congenital anomalies has been noted in the current study compared to previous studies. Predictive factors increasing risk of congenital anomalies in DS patients have been identified. The current findings may help in developing strategies and more targeted preventive and therapeutic interventions.
PubMed: 38596643
DOI: 10.2147/IJGM.S453181 -
Molecular Syndromology Mar 2024Currarino syndrome is a rare syndrome with multiple congenital anomalies including sacral agenesis, anorectal malformation, and presence of a presacral mass. Currarino...
INTRODUCTION
Currarino syndrome is a rare syndrome with multiple congenital anomalies including sacral agenesis, anorectal malformation, and presence of a presacral mass. Currarino syndrome is considered to be an autosomal dominant inherited disorder, with low penetrance and variable expressivity, but sporadic cases have also been reported. Mutations in gene, mapped to 7q36, are the main causes of this syndrome. To the best of our knowledge, less than 400 cases of this syndrome have been mentioned in the literature. Currarino syndrome is often seen in children and considered to be rare in adults; it is mostly found as incidental finding and suspected to be underdiagnosed.
CASE PRESENTATION
Recognizing the rarity of this syndrome, we present here two siblings with incomplete form of Currarino syndrome combined with microcephaly and intellectual disability. Banding and molecular cytogenetics were used to characterize the origin of this disorder. Banding cytogenetics together with molecular cytogenetics revealed an unbalanced translocation t(7;21)(q36.2;p11.3)mat, leading to a deletion of the 7q36 region in both affected children.
CONCLUSION
This report highlights the importance of cytogenetics in diagnosis of rare genetic syndromes, with impact on genetic counseling of patients and their families. To the best of our knowledge, this is the first Moroccan Currarino syndrome case due to an unbalanced translocation leading to a der(7)t(7;21)(q36.2;p11.3). Also, this is the first Currarino syndrome case associated with a deletion in 7q36 to be reported in Morocco.
PubMed: 38585544
DOI: 10.1159/000534432 -
Nephrology (Carlton, Vic.) Apr 2024Townes-Brocks syndrome (TBS) is an autosomal dominant disorder characterised by the triad of anorectal, thumb, and ear malformations. It may also be accompanied by...
Townes-Brocks syndrome (TBS) is an autosomal dominant disorder characterised by the triad of anorectal, thumb, and ear malformations. It may also be accompanied by defects in kidney, heart, eyes, hearing, and feet. TBS has been demonstrated to result from heterozygous variants in the SALL1 gene, which encodes zinc finger protein believed to function as a transcriptional repressor. The clinical characteristics of an atypical TBS phenotype patient from a Chinese family are described, with predominant manifestations including external ear dysplasia, unilateral renal hypoplasia with mild renal dysfunction, and hearing impairment. A novel heterozygous variant c.3060T>A (p.Tyr1020*) in exon 2 of the SALL1 gene was identified in this proband. Pyrosequencing of the complementary DNA of the proband revealed that the variant transcript accounted for 48% of the total transcripts in peripheral leukocytes, indicating that this variant transcript has not undergone nonsense-mediated mRNA decay. This variant c.3060T > A is located at the terminal end of exon 2, proximal to the 3' end of the SALL1 gene, and exerts a relatively minor impact on protein function. We suggest that the atypical TBS phenotype observed in the proband may be attributed to the truncated protein retaining partial SALL1 function.
PubMed: 38584358
DOI: 10.1111/nep.14300 -
Journal of Pediatric Surgery Jul 2024There is wide variation in the language used to describe Mullerian structures. To standardize terminology, the American Society of Reproductive Medicine (ASRM) created...
BACKGROUND
There is wide variation in the language used to describe Mullerian structures. To standardize terminology, the American Society of Reproductive Medicine (ASRM) created the Mullerian Anomalies Classification (MAC) in 2021. The objective of this study was to evaluate the applicability of the MAC nomenclature to pediatric patients with cloaca.
METHODS
A retrospective review of all patients with cloaca was performed at a single institution. Descriptions of Mullerian structures were evaluated and compared to the ASRM MAC categories. Descriptive statistics were used to report findings.
RESULTS
36 patients with cloaca were identified, 13 (36%) of whom had congenital Mullerian structures that could not be adequately described by the MAC terminology. All 13 patients had two hemiuteri that were not connected in the midline and were not accurately described as uterus didelphys. Additionally, 5 of these 13 patients had reproductive anatomy that was connected by a fistula or ectopic connection to other pelvic structures.
CONCLUSION
Despite the ASRM expansion of the Mullerian anomalies nomenclature, more than a third of our patients with cloaca could not have their Mullerian structures accurately described. Describing anatomy with accurate and consistent language can improve communication between healthcare providers and may allow patients and families to better anticipate fertility options.
STUDY TYPE
Retrospective.
LEVEL OF EVIDENCE
IV.
Topics: Humans; Retrospective Studies; Female; Cloaca; Mullerian Ducts; Terminology as Topic; Urogenital Abnormalities; Child; Uterus; Infant; Child, Preschool; Adolescent
PubMed: 38584008
DOI: 10.1016/j.jpedsurg.2024.03.018 -
Journal of Pediatric Surgery Mar 2024This study describes the presentation and initial management of anorectal malformation (ARM); evaluating the frequency, causes and consequences of late diagnosis.
BACKGROUND
This study describes the presentation and initial management of anorectal malformation (ARM); evaluating the frequency, causes and consequences of late diagnosis.
METHODS
A prospective, population cohort study was undertaken for newly diagnosed ARMs in the UK and Ireland from 01/10/2015 and 30/09/2016. Follow-up was completed at one year. Data are presented as n (%), appropriate statistical methods used. Factors associated with late diagnosis; defined as: detection of ARM either following discharge or more than 72 h after birth were assessed with univariable logistic regression.
RESULTS
Twenty six centres reported on 174 cases, 158 of which were classified according to the type of malformation and 154 had completed surgical data. Overall, perineal fistula was the most commonly detected anomaly 43/158 (27%); of the 41 of these children undergoing surgery, 15 (37%) had a stoma formed. 21/154 (14%, CI{9-20}) patients undergoing surgery experienced post-operative complications. Thirty-nine (22%) were diagnosed late and 12 (7%) were detected >30 days after birth. Factors associated with late diagnosis included female sex (OR 2.06; 1.0-4.26), having a visible perineal opening (OR 2.63; 1.21-5.67) and anomalies leading to visible meconium on the perineum (OR 18.74; 2.47-141.73). 56/174 (32%) had a diagnosis of VACTERL association (vertebral, anorectal, cardiac, tracheal, oesophageal, renal and limb); however, not all infants were investigated for commonly associated anomalies. 51/140 (36%) had a cardiac anomaly detected on echocardiogram.
CONCLUSION
There is room for improvement within the care for infants born with ARM in the UK and Ireland. Upskilling those performing neonatal examination to allow timely diagnosis, instruction of universal screening for associated anomalies and further analysis of the factors leading to clinically unnecessary stoma formation are warranted.
LEVEL OF EVIDENCE
II (Prospective Cohort Study <80% follow-up).
PubMed: 38580547
DOI: 10.1016/j.jpedsurg.2024.03.009 -
Pediatric Surgery International Apr 2024Assess long-term quality of life (QoL), bowel and voiding function in anorectal malformation (ARM) paediatric patients.
AIMS
Assess long-term quality of life (QoL), bowel and voiding function in anorectal malformation (ARM) paediatric patients.
METHOD
Retrospective review of ARM patients between 2007 and 2020 was performed. QoL (all patients), bowel and voiding function (> 5 yo) were assessed using the paediatric quality of life inventory (PedsQL), paediatric incontinence and constipation score (PICS) and dysfunctional voiding scoring system (DVSS), respectively.
RESULTS
There were 122 patients (49% female, 85 > 5 yo) with ARM. Two had died, four refused, twenty-two were non-contactable, leaving ninety-four patients (65 > 5 yo) included. Mean age was 89 months (19-183), and follow-up was 86 months (13-183). Patients had significantly poorer scores for QoL, bowel and voiding function compared to published healthy controls. 57% had poor bowel function, 32% had poor voiding function and 38% required 'ancillary aids' to facilitate function. Patients using 'ancillary aids' for voiding function had a significantly lower QoL (parent: 62 vs 77; p = 0.01, patient: 66 vs 79; p = 0.05). Bowel continence was worse in those with high vs low ARM (13 vs 20, p = 0.004) and timely vs delayed diagnosis (17 vs 24, p = 0.04).
CONCLUSION
Patients with ARM have significantly worse QoL, bowel and voiding function than normal healthy controls. There is a need for long-term monitoring of function and further support for these children.
LEVEL OF EVIDENCE
III.
Topics: Humans; Child; Female; Male; Anorectal Malformations; Quality of Life; Intestines; Constipation; United Kingdom; Fecal Incontinence
PubMed: 38565744
DOI: 10.1007/s00383-024-05684-2 -
Journal of Pediatric Gastroenterology... May 2024Refractory functional constipation is a challenging condition to manage in children. The use of transanal irrigation (TAI) is well reported in children with neurological... (Meta-Analysis)
Meta-Analysis
OBJECTIVES
Refractory functional constipation is a challenging condition to manage in children. The use of transanal irrigation (TAI) is well reported in children with neurological disorders as well as anorectal malformations but less so in children with functional disorders of defecation. The objective of our study was to evaluate the effectiveness, safety and outcomes of TAI in children with functional constipation.
METHODS
PubMed, Scopus and Google Scholar were searched for publications related to the use of TAI in functional constipation. Data regarding the study design, sample size, patient characteristics, investigator-reported response to TAI and adverse effects were extracted from studies that met the selection criteria. The inverse variance heterogeneity model was used for ascertaining the summary effect in this meta-analysis.
RESULTS
The search strategy yielded 279 articles of which five studies were included in the final review. The studies were from the United Kingdom (n = 2), Netherlands (n = 2) and Denmark (n = 1). These studies included 192 children with a median age ranging from 7 to 12.2 years old. The TAI systems used in these studies were: Peristeen (n = 2), Peristeen or Qufora (n = 1), Alterna (n = 1) and Navina (n = 1). The follow-up duration ranged from 5.5 months to 3 years. Eleven (5.7%) children did not tolerate TAI and withdrew from treatment soon after initiation. The pooled investigator-reported success of TAI was 62% (95% CI: 52%-71%). The most common adverse event was pain which was experienced by 21.7% of children. A total of 27 (14%) were successfully weaned off TAI at the last follow-up.
CONCLUSIONS
TAI is reported to be successful in 62% of children with refractory functional constipation. There is a need for well-designed prospective trials to evaluate this treatment option in children with refractory functional constipation.
Topics: Humans; Constipation; Child; Therapeutic Irrigation; Anal Canal; Treatment Outcome
PubMed: 38558090
DOI: 10.1002/jpn3.12200 -
Molecular Therapy. Nucleic Acids Jun 2024Anorectal malformations (ARMs) are congenital diseases that lead to postoperative fecal incontinence, constipation, and soiling, despite improvements in surgery;...
Anorectal malformations (ARMs) are congenital diseases that lead to postoperative fecal incontinence, constipation, and soiling, despite improvements in surgery; however, their pathological mechanisms remain unclear. Here, we report the role of microRNA-141-3p in maintaining homeostasis between apoptosis and autophagy in the lumbosacral defecation center of fetal rats with ARMs. Elevated microRNA-141-3p expression inhibited YIN-YANG-1 expression by binding its 3' UTR, and repressed autophagy and triggered apoptosis simultaneously. Then, adenylate cyclase 3 was screened to be the downstream target gene of YIN-YANG-1 by chromatin immunoprecipitation sequencing experiments, and Yin Yang 1 could positively activate the transcription of adenylate cyclase 3 by directly interacting with the motif GAGATGG and ATGG in its promoter. Intraamniotic microinjection of adeno-rno-microRNA-141-3p-sponge-GFP in fetal rats with ARMs on embryonic day 15 restored apoptosis-autophagy homeostasis. These findings reveal that microRNA-141-3p upregulation impaired homeostasis between apoptosis and autophagy by inhibiting the YIN-YANG-1/adenylate cyclase 3 axis, and that intraamniotic injection of anti-microRNA-141-3p helped maintain homeostasis in the lumbosacral defecation center of ARMs during embryogenesis.
PubMed: 38545620
DOI: 10.1016/j.omtn.2024.102163