Decreased expression of Intestinal I- and L-FABP levels in rare human genetic lipid malabsorption syndromes.

We investigated, for the first time, the expression of I- and L-FABP in two very rare hereditary lipid malabsorption syndromes as compared with normal subjects. Abetalipoproteinemia (ABL) and Anderson's disease (AD) are characterized by an inability to export alimentary lipids as chylomicrons that result in fat loading of enterocytes. Duodeno-jejunal biopsies were obtained from 14 fasted normal subjects, and from four patients with ABL and from six with AD. Intestinal FABP expression was investigated by immuno-histochemistry, western blot, ELISA and Northern blot analysis. In contrast to normal subjects, the cellular immunostaining for both FABPs was clearly decreased in patients, as the enterocytes became fat-laden. In patients with ABL, the intestinal contents of I- (60.7 +/- 13.38 ng/mg protein) and L-FABP (750.3 +/- 121.3 ng/mg protein) are significantly reduced (50 and 35%, P < 0.05, respectively) as compared to normal subjects (I-135.3 +/- 11.1 ng, L-1211 +/- 110 ng/mg protein). In AD, the patients also exhibited decreased expression (50%, P < 0.05; I-59 +/- 11.88 ng, L-618.2 +/- 104.6 ng/mg protein). Decreased FABP expression was not associated with decreased mRNA levels. The results suggest that enterocytes might regulate intracellular FABP content in response to intracellular fatty acids, which we speculate may act as lipid sensors to prevent their intracellular transport.

Pulmonary sequestration children: is the thoracoscopic approach a good option?

BACKGROUND: The thoracoscopic approach for pulmonary sequestration in children seems to be feasible and reproducible. To date, there have been no studies comparing the thoracoscopic approach with the conventional technique in this indication. Therefore, the aim of this study was to compare these two approachs. METHODS: We performed a retrospective study in patients treated surgically for a prenatal diagnosis of pulmonary sequestration between 2000 and 2003. Three or five ports were used, and single-lung ventilation was required. The clinical, operative, and postoperative data were compared with those for patients operated on during the same period via thoracotomy. For statistical purposes, the children who required conversion to the open proecedure were grouped with those who underwent thoracotomy. The following data were compared: age, and weight, operating time, duration of postoperative drainage via chest tube, duration of postoperative narcotic use, pain scores on the 1(st) and 2(nd) days after the procedure, and length of hospital stay. The Mann-Whitney test was used for statistical analysis. RESULTS: Five infants were operated on via a thoracoscopic approach. Two required conversion to an open procedure. There were four intralobar sequestrations (ILS) and one extralobar sequestration (ELS). The mean age at surgery was 6.2 months (range, 4-9). The mean operating time, excluding the patients who were converted to open, was 155 min (range, 120-190). In the thoracotomy group, there were one ELS and one ILS. Two groups were defined: the exclusively laparoscopy group (EL) (n = 3) and the thoracotomy and conversion group (TC) (n = 4). The duration of postoperative drainage, duration of postoperative narcotic use, and hospital stay seemed to be shorter in the group EL. These times, respectively, were 3.4 vs 2.75 days, 4.1 vs 3.3 days, and 7.5 vs 4.3 days = (p = 0.03). There were two complications in the TC group (one wound abcess and one pleural leak that required a chest tube). CONCLUSION: The thoracoscopic approach for pulmonary sequestration is feasible. It seems to reduce the duration of postoperative drainage, postoperative narcotic use, hospital and stay. These results need to be confirmed by a prospective and more detailed study.

Cytokines, chemokine receptors, and homing molecule distribution in the rectum and stomach of pediatric patients with ulcerative colitis.

BACKGROUND: Cytokines appear to play a significant role in the pathogenesis of inflammatory bowel disease (IBD) with a predominant Th2 pattern in colonic mucosa of patients with ulcerative colitis (UC). Chemokines and their receptors also regulate the migration of Th1 or Th2 lymphocytes to inflammatory tissues during the immune response. Although adult UC is usually confined to the colon, pediatric UC not uncommonly affects the stomach. AIMS: The aim of this study was to compare expression of cytokines, chemokine receptors, and homing molecules in the rectal and the histologically characterized gastric mucosa of pediatric patients with UC. SUBJECTS Sixteen patients (11 girls and 5 boys; median age, 9 years) having all the features of UC were included in the study. METHODS: Rectal and gastric mucosa obtained from UC cases were immunostained with antibodies against L-selectin, beta 7 integrin, CXCR3, CCR3, and CCR5. IL-4 and IL-12 p40 transcript expression was studied by in situ hybridization. RESULTS: Chronic gastritis was found in 93.7% of cases and Helicobacter pylori (Hp) was found in 2 (13.3%) cases. In the rectal and gastric mucosa, CXCR3 was found in perivascular lymphocytes and CCR5 in a subset of CXCR3+ cells in the lamina propria. CCR3+ lymphocytes and IL-4-positive cells were always found, but there was no evidence of IL-12 production. Most of the lymphocytes infiltrating the gastric mucosa expressed beta 7 but not CD62L. In contrast, beta 7-positive cells were randomly dispersed in the rectal lamina propria, and the fraction of CD3+beta 7+ was low. CONCLUSIONS: The authors conclude that gastritis is common in pediatric UC. The presence of CCR3+ lymphocytes, IL-4 transcript expression, without IL-12 p40 production in the stomach and in the rectum suggests a Th2 immune response. The presence of CCR3+, CD62L- activated Th2 cells may suggest that these gastric cells are recruited from colorectal primary lesions.

Laparoscopic rectopexy for solitary ulcer of rectum syndrome in a child.

BACKGROUND: Solitary ulcer of rectum syndrome occurs rarely in children, and the diagnosis may be difficult. Rectopexy has already been reported with good results in adults and children. We report the first laparoscopic rectopexy in children. METHODS: We report the first case of rectopexy performed according to the Orr-Loygue technique using a laparoscopic approach in children. Three trocars were used. A polypropylene mesh was sutured on each side of the rectum and fixed to the promontary with a nonabsorbable suture. The operative time was 150 min. RESULTS: The postoperative course was uneventful. The boy was discharged on postoperative day 3. The rectoscopy at 4 months was normal. The rectal bleeding and pain had disappeared by the 18-month follow-up assessment. CONCLUSION: We report a successful laparoscopic rectopexy for solitary ulcer of rectum syndrome in a child. The procedure is simple, safe, and reproductible, giving good results in the reported case.

[Long-term followup of primary intestinal lymphangiectasia in the child. Six case reports]. / Suivi de long cours des lymphangiectasies intestinales primitives de l'enfant. A propos de six cas.

UNLABELLED: Primary intestinal lymphangiectasia induce symptoms of protein-losing gastroenteropathy. Only very few studies evaluate the long term follow up of such patients. We reviewed six children diagnosed at 17 +/- 12 months and followed for 11 +/- 4.9 years. CASE REPORTS: As soon as the diagnosis was made the patients were submitted to a strict low fat diet with added medium chain triglycerides and intermittent liposoluble vitamins perfusions. The diet allowed the disappearance of symptoms for all the patients but laboratory findings indicated continuing chyle leak for most of the children. Only one child who had normal biological parameters tolerates a normal diet since four years. Relaxation of the diet by two patients who had moderate hypoalbuminemia and lymphopenia led to severe clinical relapses 14 and 17 years after the diagnosis period with therapeutic difficulties. Three patients with long term strict low fat diet remain asymptomatic. CONCLUSION: In most asymptomatic patients, the underlying lymphatic defect remains with permanent biological abnormalities. Clinical relapses may be severe and difficult to treat; thus the need for dietary treatment appears to be permanent.

Aberrant gene expression in epithelial cells of mixed odontogenic tumors.

Comparative investigations of odontogenic cells in normally forming teeth and tumors may provide insights into the mechanisms of the differentiation process. The present study is devoted to late phenotypic markers of ameloblast and odontoblast cells, i.e., proteins involved in biomineralization. The in situ expression of amelogenins, keratins, collagens type III and IV, vimentin, fibronectin, osteonectin, and osteocalcin was performed on normal and tumor odontogenic human cells. The pattern of protein expression showed some similarities between ameloblasts and odontoblasts present in normally developing human teeth and cells present in neoplastic tissues of ameloblastic fibroma, ameloblastic fibro-odontomas, and complex odontomas. Amelogenins (for ameloblasts) and osteocalcin (for odontoblasts) were detected in cells with well-organized enamel and dentin, respectively. In contrast, "mixed" cells located in epithelial zones of mixed odontogenic tumors co-expressed amelogenins and osteocalcin, as shown by immunostaining. The presence of osteocalcin transcripts was also demonstrated by in situ hybridization in these cells. Keratins and vimentin were detected in the same epithelial zones. Tumor epithelial cells were associated with various amounts of polymorphic matrix (amelogenin- and osteocalcin-immunoreactive), depending on the types of mixed tumors. No osteocalcin labeling was found in epithelial tumors. This study confirms that the differentiation of normal and tumor odontogenic cells is accompanied by the expression of some common molecules. Furthermore, the gene products present in normal mesenchymal cells were also shown in odontogenic tumor epithelium. These data may be related to a tumor-specific overexpression of the corresponding genes transcribed at an undetectable level during normal development and/or to an epithelial-mesenchymal transition proposed to occur during normal root formation. A plausible explanation for the results is that the odontogenic tumor epithelial cells are recapitulating genetic programs expressed during normal odontogenesis, but the tumor cells demonstrate abnormal expression patterns for these genes.

Postoperative outcome of Crohn's disease in 30 children.

BACKGROUND: Thirty children operated on for Crohn's disease (CD) were reviewed (1975-1994). The aim of the study was to assess their postoperative outcome. PATIENTS: 19 boys and 11 girls, aged 15.3 (2) years (range 11.3-20) at surgery were studied. RESULTS: Surgical indications were acute complications of CD and chronic intestinal illness. Six months after surgery, 11 of 12 patients had been weaned off steroids, and 22 of 23 patients were weaned off nutritional support; 17 patients without recurrence had a mean (SD) weight gain of 2.1 (8) kg and a height gain of 3.36 (3) cm. During 3.1 (2.7) years follow up, 12 patients (40%) had a recurrence of the disease after 19.4 (14) months (means (SD)): supra-anastomotic recurrence (six), severe perianal disease (two), and chronic illness (four). Six of 14 patients who were treated with mesalazine (13) or azathioprine (one) had recurrences. The postoperative recurrence rate was 50% at two years. CONCLUSION: Surgical treatment modifies the immediate outcome of severe or complicated CD, but does not prevent recurrence, despite localised resection or prophylactic postoperative treatment. Extension of the disease before surgery seems to be a major risk factor for postoperative recurrence in children.

[Adenovirus and intranuclear inclusions in the appendix in children with acute intussusception]. / Adénovirus et inclusions intranucléaires dans les appendices au cours des invaginations intestinales aiguës de l'enfant.

One hundred and five appendices removed at the time of surgical reduction of intussusception in children were studied by light microscopy after routine procedures to search for aetiological factors involved in intussusception. Normal pediatric appendix specimens served as controls (n = 30). Light microscopic examination showed viral inclusions in epithelial cells in 48 of 105 appendices (45%) from the cases of intussusception. No viral inclusion was observed in controls. Immunohistochemistry performed on 21 appendices from intussusception with a monoclonal antibody against adenovirus showed intranuclear positivity in all appendices with viral inclusions. Viral inclusions seen in epithelial cells of appendices from cases of intussusception are caused by virus and in particularly by adenovirus. The etiological factors involved in intussusception without viral inclusion in appendix remain unknown.

In utero eyeball development study by magnetic resonance imaging.

The aim of this study was to measure fetal ocular development and to determine a growth curve by means of measurements in utero. Fetal ocular development was recorded by analysis of the results of magnetic resonance imaging (MRI). An anatomic study allowed definition of the best contrasted MRI sequences for calculation of the ocular surface. Biometric analysis of the values of the ocular surface in the neuro-ocular plane in 35 fetuses allowed establishment of a linear model of ocular growth curve in utero. Evaluation of ocular development may allow the detection and confirmation of malformational ocular anomalies such as microphthalmia.

[Contribution of endosonography to the diagnosis and follow-up of pediatric gastric neurofibroma revealing von Recklinghausen's disease]. / Contribution de l'échoendoscopie au diagnostic et au suivi d'un neurofibrome gastrique pédiatrique révélateur d'une maladie de von Recklinghausen.

BACKGROUND: Gastrointestinal involvement in von Recklinghausen's disease (RD) is rare during childhood; its symptoms are late and its prognosis is poor, related to local recurrence and risk of malignant transformation. CASE REPORT: A 13 year-old boy was admitted for hematemesis revealing gastric ulcer. A second episode of hematemesis led to identify a sessile gastric tumor in this patient having numerous skin café-au-lait spots. Recurrent bleeding required laparotomy that showed diffuse infiltration into the anterior gastric wall: histological examination of the excised piece showed characteristic features of neurofibromatosis. The patient was not compliant to the endosonographic survey so that a symptomatic relapse led to total gastrectomy: histological examination did not show malignant transformation. CONCLUSION: Endoscopy is a major tool for identifying gastrointestinal localization of RD but endosonography is necessary to precise the extent of the tumor.

A high-resolution genetic map of mouse chromosome 15 encompassing the Dominant megacolon (Dom) locus.

Dominant megacolon (Dom) is one of four mutations in the mouse that can produce a phenotype similar to Hirschsprung disease in human. The Dom gene product is not known, and no candidate region has been defined for a possible human homolog. In this publication we report mapping the Dom locus with high definition, using several intra-and interspecific crosses and a set of 16 Chr 15-specific microsatellites flanking this locus.

Pancreaticoduodenectomy in childhood for rare pancreatic ductal anomalies--case reports.

In the past 9 years, 3 children suffering rare pancreatic disorders have undergone cephalic pancreaticoduodenectomy (Whipple procedure) required after the failure of initial conservative treatments. Ductal anomalies such as pancreas divisum or predominant Santorini duct can be managed conservatively (especially by papillotomy of the minor papilla), unless the extent of the fibrotic lesions of the pancreas jeopardizes the final evolution of the pancreatic disease. Intrapancreatic gastric duplications remain extremely rare. Even to-day, diagnosis was made only on pathologic specimens after radical surgery. Better knowledge of this rare pathology, with emphasis on its radiological features, may help better assessment. Hemoductal pancreatitis is evocative of the coexistence of gastric duplication and pancreatic aberrant duct. However, when fibrotic and necrotic changes in the duodenopancreatic region are considerable, assessment of this anomaly becomes difficult. Radical though it is, pancreaticoduodenectomy may be necessary to treat cephalic pancreatic lesions in childhood after the failure of reasonable attempts of conservative treatment.

Characteristics and consequences of duodenogastric reflux in children on total parenteral nutrition (TPN) for severe gastrointestinal disorders.

This study was carried out to determine the frequency and composition (biliary and/or pancreactic) of duodenogastric reflux (DGR) in children with severe gastro-intestinal disorders on total parenteral nutrition (TPN), and to assess its consequences in terms of gastric histology (gastric per endoscopic biopsies) and secretion (acid, pepsin and sialic acid output). Sixteen children (mean age: 20 months) with severe gastro-intestinal disorders requiring TPN (mean duration: 9.5 months) were studied. DGR was demonstrated by measuring gastric choline and trypsin outputs. Serum gastrin levels were measured in all patients. Seven children (44%) had a DGR, with a significant increase in choline output (p < 0.02). Trypsin output was elevated in one patient only. Exudative gastritis and increased sialic acid output occurred in the presence and in the absence of DGR. DGR did not alter the basal acid and pepsin secretions. The serum gastrin levels were normal except in one case. These results show that DGR occurs frequently in children suffering from severe gastro-intestinal disorders on TPN, that it is mainly of biliary origin and that exudative gastritis is very frequent but not correlated with DGR. It suggests that DGR causes little injury in children on TPN, perhaps because of their decreased pancreatic secretion.

[Contribution of genetic typing for the diagnosis of familial adenomatous polyposis in pediatrics]. / Apport du typage génétique pour le diagnostic de polypose adénomateuse familiale en pédiatrie.

BACKGROUND: The gene responsible for familial adenomatous polyposis, (APC), has been recently cloned and genetic map with several polymorphic markers has been established. POPULATION AND METHODS: Blood samples (20 ml) were taken from 34 subjects belonging to four families at risk for familial adenomatous polyposis. Nineteen of these 34, less than 20 years old, had one parent having polyposis or dead because of it. Polyposis was diagnosed, in ten of these 19 by endoscopy. Genomic DNA was extracted from peripheral leukocytes and Southern blot analyses were performed in each family, using RFLPs on both sides of the APC locus. RESULTS: DNA analysis identified normal and mutant haplotypes at the APC locus in each family. It was thus possible to follow the segregation of mutant alleles. These results were compared with the anamnestic and endoscopic data. Bearing in mind the risk of recombination when using extragenic markers, RFLPs allowed early diagnosis of APC in pre and/or asymptomatic patients. CONCLUSIONS: Genetic analysis can be used to diagnose APC in affected families, provided the risk of recombination is taken into account. Intragenic microsatellites markers will soon be available. These will provide more information on the APC gene, and hence direct molecular diagnosis of APC.

[Anatomic characteristics of the mastoid in children. Pneumatization of the subfacial region]. / Particularités anatomiques de la mastoïde de l'enfant. Pneumatisation de la région sous-faciale.

Three specific features of the mastoid in the pediatric population appeared to us to be important in view of our per-operative findings on mastoidectomy for chronic suppurative otitis, cholesteatoma or middle ear effusion with chronic persistent mastoiditis in the older child. These included the position of the facial nerve, the superficial nature of its third part being well known, but also the existence of the Körner septum and especially the pneumatization of the sub-facial region which explains the similarity between certain infectious lesions of the retro-tympanic structures and infectious lesions of the anterior portion of the mastoid process. An experimental study of staining of preserved petrous bones in the adult enabled the sub-facial permeability of the mastoid to be demonstrated in certain cases. Awareness of these small details should help to avoid per or post-operative complications in surgery for chronic otitis media in children.

[Fibromucosal nodular lesions in newborn infants]. / Lésions nodulaires des fibromuqueuses du nouveau-né.

The authors present the case of a neonate with four nodular lesions of the gingival fibromucosal with different histological types: two lesions consisted of epithelial inclusions and the other two were alveolar lymphangiomas. This case emphasises the importance of the histological examination in the diagnosis of clinically identical lesions.