Prognostic value of a hernia sac in congenital diaphragmatic hernia.

OBJECTIVE: To investigate the prognostic value of a hernia sac in isolated congenital diaphragmatic hernia (CDH). METHODS: Our database was searched to identify all consecutive cases of CDH referred to our fetal medicine unit between January 2004 and August 2011. Presence or absence of a hernia sac was assessed in liveborn cases using surgery or postnatal autopsy reports. We studied the correlation between the presence of a hernia sac and prenatal findings and perinatal morbidity and mortality. RESULTS: Over the study period, there were 70 cases with isolated CDH born alive in which either a surgery or autopsy report was available. Neonatal death, either preoperative or postoperative, occurred in 1/18 (5.6%) infants with a hernia sac and in 17/52 (32.7%) cases without a hernia sac (P = 0.03). Patients with a hernia sac had a significantly higher observed to expected pulmonary volume on prenatal magnetic resonance imaging (51.9 vs 39.3%, P = 0.01). Neonatal morbidity in surviving infants was lower in the group with a hernia sac, although not significantly. CONCLUSION: The presence of a hernia sac is associated with a higher pulmonary volume and a better overall prognosis for CDH.

[Fibroepithelial polyp of the ureter in a child. A case report]. / Polype fibro-épithelial de l'uretère chez l'enfant. À propos d'un cas.

Fibroepithelial polyp of the ureter is benign tumor of mesodermal origin that rarely occurs in children. The most common presenting symptoms are hematuria and flank pain by obstruction of the urinary tract. The etiology of this tumor is not clear. It occurs more frequently in boys and often arises in the proximal ureter and the ureteropelvic junction. The preoperative diagnosis is difficult. We present the case of a 10-year-old boy who had recurrent episodes in the left flank owing to polyps of the lumbar ureter of which the fibroepithelial nature was confirmed by the pathological examination of the surgical specimen. We discuss the clinical presentations, imaging, histological features and treatment options of this unusual tumor through a review of the literature.

[Early diagnosis of omphalocele: Prognostic value of the herniated viscera for associated anomalies]. / Omphalocèle au premier trimestre : valeur pronostique du contenu extériorisé pour le risque d'anomalie associée.

OBJECTIVES: Prognosis of infants with omphalocele depends on many factors, including associated anomalies. "Small" omphaloceles are believed to have more often WB syndrome, but so far no prenatal criterion has been demonstrated to predict associated anomalies. The aim of this study was to assess the outcomes of omphaloceles with prenatal diagnosis, and to seek for any correlation between the herniated viscera in the first trimester and the risk of associated anomalies. METHODS: We conducted a retrospective study at the Necker Enfants Malades Hospital between 2008 and 2018. Pregnancy outcomes and post natal data were collected and compared to the omphalocele content in the first trimester. RESULTS: One hundred and ninety-one women with antenatal diagnosis of omphalocele were included. Twenty-eight percent were isolated at birth, 32% had a polymalformative syndrome with chromosomal anomaly, 13% had a polymalformative syndrome without genetic anomaly, 9% had a Wiedemann-Beckwith syndrome, 7% had an association with cardiopathy, 6% had a limb body wall complex, 3% had OEIS complex and one case had a Cantrell pentalogy. The presence of the liver in the omphalocele during the first trimester was a predictive factor of heart disease (85.7% vs 48.6% P=0.01). The presence of bowel in the omphalocele during the first trimester was a predictor of chromosomal abnormalities (69.6% vs 37.2% P<0.001). Omphalocele content in the first trimester was not predictive of Wiedemann-Beckwith syndrome. CONCLUSION: Ultrasound analysis in the first trimester of omphalocele content is a valuable clue for prenatal counseling and diagnosis of associated abnormalities.

Iatrogenic mediastinitis in bronchiolitis: Importance of avoiding pharyngeal aspiration.

An 11-month-old infant was hospitalized for his first episode of severe bronchiolitis, with pneumomediastinum on the chest x-ray performed in the emergency room before hospitalization. After a few days, the occurrence of a feverish torticollis motivated a CT scan, revealing mediastinitis. An iatrogenic perforation was objectified in the posterior wall of the esophagus, probably caused by nasopharyngeal aspiration. This exceptional case has never been reported before, except in premature infants. This encouraged us to report this case to change systematic aspiration practices and prefer nasal suctioning in healthy infants with bronchiolitis presenting to the emergency department.

Epidemiological survey of 214 families with bladder exstrophy-epispadias complex.

PURPOSE: We sought to identify causative nongenetic and genetic risk factors for the bladder exstrophy-epispadias complex. MATERIALS AND METHODS: A total of 237 families with the bladder exstrophy-epispadias complex were invited to participate in the study, and information was obtained from 214 families, mainly from European countries. RESULTS: Two families showed familial occurrence. Male predominance was found among all subgroups comprising epispadias, classic bladder exstrophy and cloacal exstrophy, with male-to-female ratios of 1.4:1, 2.8:1 and 2.0:1, respectively (p = 0.001). No association with parental age, maternal reproductive history or periconceptional maternal exposure to alcohol, drugs, chemical noxae, radiation or infections was found. However, periconceptional maternal exposure to smoking was significantly more common in patients with cloacal exstrophy than in the combined group of patients with epispadias/classic bladder exstrophy (p = 0.009). Only 16.8% of mothers followed the current recommendations of periconceptional folic acid supplementation, and 17.6% had started supplementation before 10 weeks of gestation. Interestingly, in the latter group mothers of patients with cloacal exstrophy were more compliant with folic acid supplementation than were mothers of the combined group of patients with epispadias/classic bladder exstrophy (p = 0.037). Furthermore, mothers of children with cloacal exstrophy knew significantly more often prenatally that their child would have a congenital malformation than did mothers of children with epispadias/classic bladder exstrophy (p <0.0001). CONCLUSIONS: Our study corroborates the hypothesis that epispadias, classic bladder exstrophy and cloacal exstrophy are causally related, representing a spectrum of the same developmental defect, with a small risk of recurrence within families. Embryonic exposure to maternal smoking appears to enforce the severity, whereas periconceptional folic acid supplementation does not seem to alleviate it. There is a disproportional prenatal ultrasound detection rate between severe and mild phenotypes, possibly due to the neglect of imaging of full bladders with a focus on neural tube defects.

Pelvic development in the rabbit embryo: implications in the organogenesis of bladder exstrophy.

Current theses of the development of bladder exstrophy and its variants rely on defective evolution of the urinary tract and cloacal membrane. They do not account satisfactorily for the clinical features reported in children affected by exstrophy, especially the pelvic bone anomaly. We herein describe the normal development of the pelvic ring in the rabbit embryo and its chronological relationship with the lower urinary tract organogenesis. Our results suggest that these events are intricated and allow us to propose a novel mechanism to explain exstrophies.

Uncommon ureteric ectopias: embryological implications.

We herein report two rare ureteric ectopias, one in the uterus, the second in the rectum. These kinds of ectopias are not easily explained with regard to the classic embryological theories of the too-cranial or too-caudal origin of the ureteric bud on the mesonephric duct. We thus set out new explanations consistent with embryological studies on the narrow contact between the developing paramesonephric and mesonephric ducts, and on the so-called cloacal septation.

Worry: daily self-report in clinical and non-clinical populations.

The present study establishes an ecologically-valid point of reference for generalized anxiety disorder (GAD) treatment outcome studies. Although worry is the main diagnostic criterion for GAD, it is also a common and everyday cognition. Few studies have investigated the normal manifestation of worry in a non-clinical population. For this research, time spent worrying and the tendency to worry were measured in a non-clinical sample (n = 36), where GAD was screened-out, and results were compared to those obtained from a GAD sample (n = 60). Participants recorded the time spent worrying in self-monitoring notebooks for two consecutive weeks and completed the French version of the Penn State Worry Questionnaire (PSWQ). It was found that the non-GAD group reported less time spent worrying on a daily basis as well as a lower tendency to worry than the GAD group. Results are discussed in terms of treatment implications.

Gastroesophageal reflux after repair of congenital diaphragmatic hernia.

Seventy-four survivors of congenital diaphragmatic hernia (CDH) repair were reviewed for gastroesophageal reflux (GER). Twenty-nine patients had a prenatal diagnosis of CDH, 31 had the diagnosis established during the first 60 minutes of life, and 14 had a late diagnosis. Fifty-seven of the 60 patients with a prenatal diagnosis or diagnosis at birth had their CDH repaired during the first 24 hours of life. Thirty-six of the 37 patients with clinical signs of GER and 10 patients without typical clinical signs had documented GER. The overall incidence of GER was 62% (46 of 74). The 46 comprised 22 of the 29 patients (75.8%) with a prenatal diagnosis of CDH, 21 of the 31 (67.7%) with a diagnosis at birth, and 3 of the 14 with a late diagnosis. Eleven patients had surgical treatment of GER. A significant correlation was found between GER and the preoperative thoracic position of the stomach (32 v 8, GER+ v GER-; P < .01) and GER and the prenatal diagnosis of CDH (22 v 7, GER+ v GER-; P < .01). Duration of artificial ventilation (68.97 +/- 15.33 days v 14.14 +/- 3.89 days, GER+ v GER-; P < .005) and duration of hospitalization (22.04 +/- 3.59 weeks v 3.9 +/- 0.88 weeks, GER+ v GER-; P < .0003) were significantly longer for the patients with pathological GER. To decrease the morbidity related to GER, we propose using diaphragmatic patches during hernia repair to lower the strain on the crus, and using parietal patches to lower intraabdominal pressure after reintroduction of the herniated viscera.

Gastroesophageal reflux in neonates with congenital abdominal wall defect.

Gastroesophageal reflux (GER), not yet described as a real complication, takes place very often in neonates with congenital abdominal wall defect. Our aim was to determine whether it is due to abdominal hyperpressure alone, or if another factor is involved in this occurrence. Thus we studied one group of 80 gastroschises and one of 67 omphaloceles, treated in our department between December 82 and December 92. Overall occurrence was found to be about 50% in both groups. The main feature is the particular severity of GER in neonates with wide omphalocele who required staged closure, leading to further surgical antireflux procedure. We suggest that this procedure could be performed earlier, at the time of closure, for these babies in whom moreover the anatomic approach is favorable.

[Hernia in children]. / Hernies de l'enfant.

Congenital hernia seems to be the right term to define "hernia in childhood". Especially in newborn and infant, it is possible to observe numerous different pathologies which have nothing in common apart their congenital origin. Some as inguinal or umbilical hernia are very commonly encountered and others us omphalocele, gastroschisis or diaphragmatic hernia are quite rare and involved in the field of prenatal diagnosis and neonatal surgery.

Fetal lung growth in congenital diaphragmatic hernia.

BACKGROUND: In spite of significant therapeutic progress, the prognosis of congenital diaphragmatic hernia (CDH) remains pejorative in those forms in which the liver is herniated into the chest. The severity of this malformation relies on the pulmonary hypoplasia due to lung compression by the herniated viscera in the thoracic cavity, particularly the liver. This impaired growth concerns the whole pulmonary tissue, i.e. both the vessels and the alveoli. For the clinician, it is mandatory to know the evolution pattern of the lesions, to define the best time to treat them. AIM AND METHOD: The aim of this work was to study the pulmonary lesions along the gestation in fetuses affected byCDH. This morphological study was carried out on 134 human fetuses aged from 22 to 40 weeks of gestation. Anatomical and histological analysis focused on lung weight, alveolar count and wall thickness of the distal vessels. RESULTS: The results indicate that the pulmonary lesions worsen as the pregnancy continues, particularly beyond 30 weeks of gestation. CONCLUSION: Such an anatomical study should bring to the clinicians useful data to enhance the management of the patients.

Familial malrotation: report of three affected siblings.

We herein report the case of three siblings presenting with intestinal malrotation. Their medical history and circumstances of diagnosis are described. Barium meal demonstrated a minor duodenal anomaly in the mother. As far as we can ascertain, this is the third report of isolated familial malrotation in more than one generation, raising questions about its developmental mechanism. We thus highlight in what circumstances familial investigations should be undertaken in case of malrotation.

Developmental stages in the rabbit embryo: guidelines to choose an appropriate experimental model.

Researchers involved in the field of congenital malformations are often forced to work on an animal model. Both accurate description of its normal development and comparative staging with human development will be mandatory. To complete the lacking medical literature, we herein provide such data for the rabbit model. Sampled rabbit embryos were staged using the Carnegie criteria, in order first to determine if they were consistent with the rabbit developmental pattern, and second to compare this pattern with the human one. Our results show a suitable comparison of rabbits and humans in early developmental stages, except for the neural growth.

Outcome of 116 moderate renal pelvis dilatations at prenatal ultrasonography.

To determine the incidence of urinary tract abnormalities detected in the presence of moderate fetal renal pelvis dilatation, we followed up pre- and postnatally 116 fetuses and children between 1985 and 1995. At prenatal ultrasound, 50 (43%) fetuses showed regressive dilatations, 57 (49%) a stable pattern, and 9 (8%) an evolutive pattern. In the presence of an evolutive dilatation, urinary tract obstruction was present in 8 cases. When a stable pattern was observed, i.e., a patent uropathy was present, surgical correction was performed in 27 of 53 (51%) cases. Regarding the postnatal evolution of 50 prenatal regressive moderate dilatations, we observed in 12 of 50 (24%) vesicoureteric reflux, of which 5 (10%) required surgical correction, and it is concluded that careful and extensive follow-up is mandatory.

Anatomical basis of a common embryological origin for epispadias and bladder or cloacal exstrophies.

Epispadias, bladder exstrophy and its variants are in the first place usually considered as urological anomalies. Embryological theses and therapeutic approaches are mainly based upon this aspect. We challenge this point of view, in order to bring out a new axis of research about this still misknown pathologic field. A review of 16 cases of bladder exstrophy, 6 epispadias cases, and one cloacal exstrophy case, which had never been described before, revealed that the almost constant bony defect of the pelvic ring was linked with the severity of the visceral features, and with the continence status in epispadias cases. The commonly admitted theories about exstrophy development are based on a primary defect of the cloacal membrane. We suggest that the first anomaly could lie in a lack of rotation in the pelvic ring primordia.

Anatomical basis of surgical repair of hypospadias by spongioplasty.

Despite the numerous surgical procedures reported for hypospadias repair, little attention has been given to the precise assessment of penile anatomy in this malformation. In this study of 51 cases of hypospadias, we describe the particular anatomy of the corpus spongiosum encountered, highlighting its relationships with the other features observed in the different forms of this anomaly. It appears that the level where the corpus spongiosum diverges into two limbs particularly induces the degree of penile curvature that influences the severity in this malformation. We report a new technique of anatomic repair of the penis in hypospadias.