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Dive into the research topics where Paul M.A. Broens is active.

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Featured researches published by Paul M.A. Broens.


Diseases of The Colon & Rectum | 2013

Fecal Continence Revisited : The Anal External Sphincter Continence Reflex

Paul M.A. Broens; Freddy Penninckx; José Boix Ochoa

BACKGROUND: None of the current theories on fecal incontinence can explain fecal continence adequately. OBJECTIVE: This study aims to evaluate the mechanism controlling fecal continence. DESIGN: Anal electrosensitivity, anorectal pressures, and rectal pressure volumetry tests were performed in 17 controls before and after superficial local anal anesthesia and in 6 controls before and after spinal anesthesia. The same tests were performed in 1 patient before and after injected local anal anesthesia and in 3 patients with spinal cord lesions at levels Th3 to L3. RESULTS: After superficial local anal anesthesia, anal electrosensitivity decreased, but basal anal pressure remained unaltered. Squeeze pressure decreased and rectal filling sensation levels remained. Local anesthesia reduced anal pressure recorded in the distal anal canal during progressive rectal filling. This was also the case, albeit more explicit, after the local anal anesthetic was injected. After spinal anesthesia, the anal canal became insensitive to electric stimulation, but basal and squeeze pressure values decreased substantially, and the increase in anal pressure during the balloon-retaining test disappeared completely. In the patients with spinal cord lesions, the external sphincter could not be squeezed on command, but during the balloon-retaining test, the anal sphincter did squeeze autonomously at more than 300 mmHg. LIMITATIONS: These were partially experimental measurements. The relevance of the found model in the daily clinical practice will have to be studied in a following study. CONCLUSIONS: Our results support the hypothesis that the component of fecal continence mediated by contraction of the external sphincter depends on a anal external sphincter continence reflex without involving the brain. Presumably, the afferent receptors of this reflex are contact receptors located superficially in the mucosa or submucosa of the distal anal canal. A nonfunctioning anal external sphincter continence reflex would, therefore, result in fecal incontinence (see Video, Supplemental Digital Content 1, http://links.lww.com/DCR/A116).


European Journal of Medical Genetics | 2010

An interstitial duplication of chromosome 13q31.3q32.1 further delineates the critical region for postaxial polydactyly type A2

Paul A. van der Zwaag; Trijnie Dijkhuizen; Klasientje Gerssen Schoorl; Anja W. Colijn; Paul M.A. Broens; Boudien Flapper; Conny M. A. van Ravenswaaij-Arts

Postaxial polydactyly type A2 (PAP-A2; OMIM 602085) is a common feature seen in patients with a partial duplication of the long arm of chromosome 13. Dose dependency has been shown for digital malformations in this region, deletions resulting in oligodactyly and duplications in polydactyly. We aimed to narrow down the critical region for PAP-A2 in order to identify candidate genes. We performed chromosomal analysis, FISH and array-CGH in a patient with an interstitial duplication of chromosome 13q31.3q32.1 and a mild phenotype including postaxial polydactyly. The duplicated region spanned 5.59 Mb (89.67-95.25 Mb) and contained eleven known genes, including GPC5 and GPC6. GPC5 and GPC6 show homology with GPC3 and GPC4, genes involved in Simpson-Golabi-Behmel syndrome, an overgrowth syndrome in which also polydactyly can occur. Mouse studies have shown expression of both GPC5 and GPC6 in developing limbs. Therefore, we propose that GPC5 and GPC6 are the most likely candidate genes for PAP-A2.


Birth Defects Research Part A-clinical and Molecular Teratology | 2014

No major role for periconceptional folic acid use and its interaction with the MTHFR C677T polymorphism in the etiology of congenital anorectal malformations

Charlotte H. W. Wijers; Ivo de Blaauw; Nadine Zwink; Markus Draaken; Loes F.M. van der Zanden; Han G. Brunner; Alice S. Brooks; Robert M.W. Hofstra; Cornelius E.J. Sloots; Paul M.A. Broens; Marc H. W. A. Wijnen; Michael Ludwig; Ekkehart Jenetzky; Heiko Reutter; Carlo Marcelis; Nel Roeleveld; Iris van Rooij

BACKGROUND Both genetic and nongenetic factors are suggested to be involved in the etiology of congenital anorectal malformations (ARM). Maternal periconceptional use of folic acid supplements were inconsistently suggested to play a role in the prevention of ARM. Therefore, we investigated independent associations and interactions of maternal periconceptional folic acid supplement use and the infant and maternal MTHFR (methylenetetrahydrofolate reductase) C677T polymorphisms with the risk of ARM and subgroups of ARM. METHODS A case-control study was conducted among 371 nonsyndromic ARM cases and 714 population-based controls born between 1990 and 2012 using maternal questionnaires and DNA samples from mother and child. Cases were treated for ARM at departments of Pediatric Surgery of the Radboud university medical center, Sophia Childrens Hospital-Erasmus MC Rotterdam, and the University Medical Center Groningen in The Netherlands and hospitals throughout Germany. RESULTS No association with folic acid use was present (odds ratio = 1.1; 95% confidence interval: 0.8-1.4) for ARM as a group. Infant and maternal MTHFR C677T polymorphisms were weakly associated with isolated ARM in particular. Lack of folic acid supplement use in combination with infants or mothers carrying the MTHFR C677T polymorphism did not seem to increase the risk of ARM or subgroups of ARM. The relative excess risks due to interaction did not clearly indicate interaction on an additive scale either. CONCLUSION This first study investigating interactions between periconceptional folic acid supplement use and infant and maternal MTHFR C677T polymorphisms in the etiology of ARM did not provide evidence for a role of this gene-environment interaction.


Epidemiology | 2015

Parental subfertility, fertility treatment, and the risk of congenital anorectal malformations

Charlotte H. W. Wijers; Iris van Rooij; Roxana Rassouli; Marc H. W. A. Wijnen; Paul M.A. Broens; Cornelius E.J. Sloots; Han G. Brunner; Ivo de Blaauw; Nel Roeleveld

Background: Fertility treatment seems to play a role in the etiology of congenital anorectal malformations, but it is unclear whether the underlying parental subfertility, ovulation induction, or the treatment itself is involved. Therefore, we investigated the odds of anorectal malformations among children of subfertile parents who conceived with or without treatment compared with fertile parents. Methods: We performed a case-control study among 380 cases with anorectal malformations treated at 3 departments of pediatric surgery in The Netherlands and 1973 population-based controls born between August 1988 and August 2012. Parental questionnaires were used to obtain information on fertility-related issues and potential confounders. Results: In singletons, increased risks of anorectal malformations were observed for parents who underwent intracytoplasmic sperm injection (ICSI) or in vitro fertilization (IVF) treatment compared with fertile parents (odds ratio = 2.4 [95% confidence interval = 1.0–5.9] and 4.2 [1.9–8.9], respectively). For subfertile parents who conceived after IVF treatment, an elevated risk was also found when they were compared with subfertile parents who conceived without treatment (3.2 [1.4–7.2]). Among children of the latter category of parents, only the risk of anorectal malformations with other major congenital malformations was increased compared with fertile parents (2.0 [1.3–3.3]). No associations were found with intrauterine insemination or use of hormones for ovulation induction. Conclusions: We found evidence of a role of ICSI and IVF treatments in the etiology of anorectal malformations. However, subfertility without treatment increased only the risk of anorectal malformations with additional congenital malformations.


Journal of Pediatric Gastroenterology and Nutrition | 2012

Constipation and Nonspecific Abdominal Pain in Teenage Girls Referred for Emergency Surgical Consultation

K. Tim Buddingh; Eva Wieselmann; Erik Heineman; Paul M.A. Broens

Objective: The aim of this study was to describe the discharge diagnoses of children receiving surgical consultation for acute abdominal pain according to age and sex. Methods: Retrospective chart review. Results: Nine hundred forty-one children were included. Appendicitis was confirmed in 31% of young boys (<12 years), 42% of teenage boys (≥12 years), 38% of young girls, and only 18% of teenage girls. A large number of teenage girls were diagnosed as having constipation and nonspecific abdominal pain. Gynecological diagnoses were relatively rare (9% of teenage girls). Teenage girls often required multiple visits to the emergency department. In addition, they frequently received consultation from other medical specialists: 30% versus 20% of young girls and 12% of boys. Teenage girls had the highest rate of (retrospectively) unnecessary surgery: 36% versus 10% of young girls (P < 0.01) and 11% of boys (P < 0.01). Conclusions: Most children receiving surgical consultation for acute abdominal pain do not have diseases requiring surgery. In teenage girls, especially, the proportion with appendicitis is low. Constipation and nonspecific abdominal pain are the main discharge diagnoses in this group. Physicians should have a high index of suspicion of constipation when examining teenage girls with acute abdominal pain.


Journal of Pediatric Surgery | 2008

Large neonatal thoracoabdominal aneurysm: case report and review of the literature

K. Tim Buddingh; Clark J. Zeebregts; Martijn E.C. Tilanus; Marc T.R. Roofthooft; Paul M.A. Broens

We present a neonate with a large saccular aneurysm of the thoracoabdominal aorta, extending from the intrathoracic aorta to the left common iliac artery. No underlying cause could be identified. Despite an early diagnosis, the aneurysm was deemed inoperable because of the lengthy involvement and the frail aspect of all visceral arteries. A review of the literature on congenital abdominal aortic aneurysm in infants was conducted. Eleven cases of live-born infants with a congenital abdominal aortic aneurysm have previously been published. None of them involved as large a part of the thoracic and abdominal aorta as the case presented here.


Neurourology and Urodynamics | 2017

Urinary incontinence in the Netherlands: Prevalence and associated risk factors in adults

J. Marleen Linde; Rien J.M. Nijman; Monika Trzpis; Paul M.A. Broens

To determine the prevalence and risk factors associated with urinary incontinence (UI) among adults in the Netherlands.


Clinical Gastroenterology and Hepatology | 2015

Infant’s Age Influences the Accuracy of Rectal Suction Biopsies for Diagnosing of Hirschsprung’s Disease

Rob J. Meinds; Gé-Ann Kuiper; Kevin Parry; Albertus Timmer; Henk Groen; Erik Heineman; Paul M.A. Broens

BACKGROUND & AIMS Hirschsprungs disease (HD) is a rare birth defect of the distal colon. Analysis of rectal suction biopsy (RSB) is considered to be the most reliable method for its diagnosis in infants. However, the diagnostic accuracy of RSB analysis could be affected by the patients age, possibly because of rapid development of the enteric nervous system in the first weeks after birth. Because there is a trend toward testing for HD at early ages, we aimed to determine whether the diagnostic accuracy of RSB analysis is associated with the patients age. METHODS We performed a retrospective analysis of all patients from whom 1 or more RSBs were analyzed from 1975 through 2011 (529 RSBs from 441 patients). Outcomes of RSB analyses were categorized as positive, inconclusive, or negative for HD. Primary diagnoses, based only on RSB, were compared with final diagnoses made after at least 1 year of clinical follow-up. Age at time of RSB analysis was corrected for the gestational age. By using these criteria, we determined the diagnostic accuracy of RSB analysis for different age groups. RESULTS RSB analysis identified HD in patients with sensitivity values of 46% (patients -45 to 7 days old), 47% (8-22 days old), and 62% (23-39 days old) (corrected for gestational age). The average sensitivity with which RSB analysis identified HD in patients older than 39 days was 88%. RSB identified HD in patients younger than 39 days old with significantly lower sensitivity than in older patients (50% vs 88%, P < .001). The specificity with which RSB identified infants without HD was not affected by age (average 95%). Of all RSBs, 11% were inconclusive for the diagnosis of HD. CONCLUSIONS RSB analysis identifies HD in patients younger than 39 days old with only 50% sensitivity. Moreover, RSBs obtained from younger patients often lead to inconclusive outcomes and require additional biopsies. We propose that for infants suspected of HD at these ages, a noninvasive technique, such as anorectal manometry, should be used for a primary diagnosis. RSB should thereafter be used to confirm the diagnosis when the infant is older than 39 days.


Journal of Pediatric Surgery | 2014

Dyssynergic defecation may play an important role in postoperative Hirschsprung's disease patients with severe persistent constipation: Analysis of a case series

Rob J. Meinds; Maura C. Eggink; Erik Heineman; Paul M.A. Broens

BACKGROUND After surgery for Hirschsprungs disease (HD) the majority of patients have satisfactory clinical outcomes. Nevertheless, a substantial number of patients remain who suffer from severe persistent constipation. Current consensus attributes these complaints to the hallmarks of HD. In non-HD patients a cause for severe constipation is dyssynergic defecation. METHODS Retrospectively, we reviewed the medical records of ten postoperative HD patients with severe persistent constipation who had undergone extensive anorectal function tests to diagnose the reason for the constipation. We analyzed the results of these tests. RESULTS During the last three years, ten postoperative HD patients with severe persistent constipation were given extensive anorectal function tests. All ten patients were diagnosed with dyssynergic defecation. The ages at the time of diagnosis ranged from 7 to 19years with a median age of 12years. Signs of an enlarged rectum were seen in all ten patients, with a maximum measured value of 845mL. CONCLUSIONS Patients with HD may also suffer from dyssynergic defecation. It is important to consider this possibility when dealing with severe persistent constipation in postoperative HD patients. Viable options for treating dyssynergic defecation are available that could prevent irreversible long-term complications.


Diseases of The Colon & Rectum | 2015

Pudendal Neuropathy Alone Results in Urge Incontinence Rather Than in Complete Fecal Incontinence.

Maxime M. van Meegdenburg; Erik Heineman; Paul M.A. Broens

BACKGROUND: Conscious external anal sphincter contraction is mediated by the pudendal nerve. Pudendal neuropathy is, therefore, believed to result in fecal incontinence. Until urge sensation is experienced, fecal continence is maintained by unconscious external anal sphincter contraction, which is regulated by the anal-external sphincter continence reflex. The innervation of unconscious contraction is yet unknown. OBJECTIVE: We aimed to determine whether unconscious contraction is mediated by the pudendal nerve and whether age influences unconscious contraction. DESIGN: This was a retrospective comparative study. SETTINGS: The study was conducted in a tertiary care center. PATIENTS: Seventy adult patients experiencing defecation problems who underwent anorectal function tests were included in this study. MAIN OUTCOME MEASURES: Conscious and unconscious contractions were compared between patients with and without pudendal neuropathy. Conscious contraction was defined by maximum anal sphincter contractility, unconscious contraction by pressure in the anal canal at maximum tolerable or retainable sensation during the balloon retention test. RESULTS: Unconscious contraction did not differ significantly between patients with pudendal neuropathy and non-pudendal neuropathy patients, whereas conscious contraction was significantly lower in patients with pudendal neuropathy. Multiple linear regression analyses demonstrated that unconscious contraction, in contrast to conscious contraction, was not predicted significantly by age and anal electrosensitivity at 2 cm, which represents pudendal neuropathy. Patients with pudendal neuropathy were significantly older than patients with nonpudendal neuropathy. LIMITATIONS: The pudendal nerve motor latency and EMG tests were not performed. CONCLUSIONS: The pudendal nerve does not mediate unconscious external anal sphincter contraction. Pudendal neuropathy alone, therefore, results in urge incontinence rather than in complete fecal incontinence. Unconscious contraction appears not to be influenced by age. Therefore, most of the elderly patients experience urge incontinence rather than complete fecal incontinence.

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Monika Trzpis

University Medical Center Groningen

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Erik Heineman

University Medical Center Groningen

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Rob J. Meinds

University Medical Center Groningen

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Maxime M. van Meegdenburg

University Medical Center Groningen

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Iris van Rooij

Radboud University Nijmegen

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Ivo de Blaauw

Boston Children's Hospital

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Albertus Timmer

University Medical Center Groningen

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Frank Bodewes

University Medical Center Groningen

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