[Misleading presentations of celiac disease].
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Celiac Disease↗
Biomedical subjects
A Lachaux
Publications and source records attributed to A Lachaux.
[Idiopathic intrahepatic portosytemic shunts in 4 children].
Intrahepatic portosystemic anastomoses are macroscopic communications between the venous portal system and the systemic circulation and located partly in the liver. We report 4 new cases of type II shunts, which illustrate the circumstances of the diagnosis of these exceptional anomalies. For 2 children, the diagnosis was done antenataly by US and spontaneous involution in a few months was observed. In the third case the malformation was evidenced fortuitously at 3 weeks of life, and this 6-year-old child remains completely asymptomatic so far. Then, in the fourth case, a cerebral venous thrombosis was fortuitously and antenatally evidenced in an otherwise uneventful pregnancy and portosystemic shunt was demonstrated postnataly in the extensive work up of the neonate.
Follow-Up Studies↗
[Netherton syndrome: a type of infantile erythroderma with failure to thrive, immune deficiency, rickets. Report of 3 cases].
We report the cases of 2 boys and 1 girl suffering from Netherton syndrome. Both boys presented with a non-bullous congenital erythroderma and were diagnosed early as Netherton syndrome with hair biopsies. Both had severe failure to thrive, signs of atopy, several episodes of bacterial infection, and rickets (with a high blood level of vitamin D in the first boy, and vitamin D deficiency in the second). In the third case, the pilar abnormality appeared at the age of 3 years. The girl had ichtyosis linearis circumflexa, failure to thrive and severe constipation. Netherton syndrome is a rare disorder characterized by severe ichtyosis, signs of atopy, immune deficiency and failure to thrive. The disease is severe and comprises many complications in early infancy. It is due to a genetic disorder of recessive autosomal transmission, and the gene, SPINK5, is located in the chromosome 5. Prenatal diagnosis is possible. Two of our patients had rickets, which has never been described in such patients population.
Carrier Proteins↗
[Value of contrast-enhanced MR enterography in pediatric Crohn's disease: preliminary study].
OBJECTIVE: Feasibility study of contrast enhanced MR enterography without enteroclysis as a new diagnostic tool for children with known or suspected Crohn's disease. METHODS: We prospectively included 15 children, 8-18 years old, with clinical suspicion of Crohn's disease. MR enterography without enteroclysis was performed on a 1,5 T clinical MR system. A total of 1000 ml of mannitol 5% was orally administered 60 minutes prior to MRI. Coronal and axial breath-hold sequences were acquired. The following sequences were obtained: True-FISP, FLASH T1 2D/3D with Fat saturation before and after gadolinium injection. Two radiologists, blinded to patient information, independently reviewed all examinations to record image quality, the degree of distension of the distal ileum, the presence of abnormal bowel segments and the presence of extra-intestinal complications. MRI findings were correlated to sonographic, endoscopic and biological results (sensitivity, specificity, Kappa test). RESULTS: The examinations were considered of satisfactory diagnostic quality in 93.3% of patients. Respiratory artifacts were present in one case. The entire GI tract could be identified on all sequences. Distention of the distal ileum was recorded as good to excellent in 89% of healthy subjects. Five MR examinations were considered abnormal with isolated ileal involvement in 2 cases, ileocolic involvement in 2 cases, and isolated colonic involvement in 1 case. The sensitivity and specificity of MR for the positive diagnosis of Crohn's disease were 100% and 83% respectively. Three extra-intestinal complications were detected: one case of ileo-ileal fistula, not identified on ultrasonography, an asymptomatic anal fistula and a symptomatic inflammatory stricture. CONCLUSION: MR enterography without enteroclysis is a well tolerated, effective non invasive method in the evaluation of known or suspected Crohn's disease. Because of the absence of ionizing radiation, MR enterography should become the gold standard in pediatric patients.
Administration, Oral↗
[Nosocomial infections due to adenovirus in a paediatric unit].
OBJECTIVE: We carried out a retrospective analysis of an outbreak of adenovirus (AdV) infections in a paediatric unit. The aim of the study was to analyse cases, determine the route of transmission and to evaluate the efficacy of the prevention measures. PATIENTS AND METHODS: The study was performed by recollection of AdV infection cases during a period of 1 year and the results were compared with the list of clinical cases recorded during the epidemic. The clinical files of children with a positive specimen were retrospectively analysed. During that period, five members of the medical staff showed clinical signs and symptoms of AdV infection. A throat swab was collected from a subset of the staff. RESULTS: Among nine patients with positive AdV detection, six were infected with an Adv type 2. Six were nosocomially-acquired, the other two were only probable nosocomial infections. The index case was a child presenting a febrile diarrhoea 48 h prior to being admitted to the hospital. Nosocomial transmission was associated with the prolonged shedding of the virus with faeces of the infected cases. The specimens collected from the staff remained negative. The outcome was favourable for all children. CONCLUSIONS: Prevention measures, implemented when the epidemic was characterised, allowed the control of the nosocomial outbreak.
Adenovirus Infections, Human↗
[Polyarteritis nodosa revealed by acute cholecystitis].
UNLABELLED: Acute cholecystitis revealing polyarteritis nodosa is classic but rare in adulthood. We report two cases observed during childhood. CASE REPORTS: The association of a persistent inflammatory syndrome, positive antineutrophil cytoplasm antibodies and of a vasculitis with fibrinoïd necrosis led to the diagnosis in two pediatric patients. CONCLUSION: The diagnosis of polyarteritis nodosa is difficult and often delayed. Cholecystectomy can help to such a diagnosis in the presence of acute cholecystitis.
Child↗
[Treatment of chronic hepatitis C with interferon in children].
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Adolescent↗
Measles virus exploits dendritic cells to suppress CD4+ T-cell proliferation via expression of surface viral glycoproteins independently of T-cell trans-infection.
Dendritic cells (DC) have been proposed to play a pivotal role in transient immune suppression induced by measles virus (MV) infection. In the present study, we show that DC-induced suppression of T-cell proliferation was not mediated by IL-10 or IFNalpha/beta, which are released following infection of DC, but required cell contacts between MV-infected DC and T cells. Human sera containing neutralizing anti-MV antibodies, as well as anti-MV hemagglutinin (HA) or fusion protein (F) mAbs, were found (i) to reverse suppression and (ii) to restore DC allostimulatory capacity. Interestingly, DC-induced T-cell suppression was associated with both phenotypic and functional DC maturation, as demonstrated by IL-12 production and chemotaxis to MIP-3beta. These data suggest that MV infection turns on the maturation program of DC allowing migration to draining lymph nodes, where potent T-cell immune suppression might be achieved via cell surface expression of HA and F glycoproteins, independently of T cell trans-infection.
Antibodies, Viral↗
[Collagen gastritis, an unusual cause of anemia in children. Report of 2 cases].
UNLABELLED: When a child presents a severe anemia or resistant to iron supplementation, an upper gastrointestinal endoscopy has to be realized to find special causes. CASE REPORTS: We report observations of two patients, respectively 11 and 12 years old, who were admitted to hospital for a severe microcytic, hypochromic, aregenerative anemia (hemoglobin less than 50 g/L) due to an iron deficiency. The two children's history did not reveal a deficient diet, gastrointestinal tract disorder, ingested toxic or gastrotoxic drugs, or exteriorized hemorrhage. Upper gastrointestinal endoscopy showed a macroscopic pattern of gastritis. The stomach biopsies revealed subepithelial collagenous deposits. CONCLUSION: The collagenous gastritis involves lesions similar to those described in the small intestine (collagenous sprue) and colon (collagenous colitis). The pathogenic factors of the three entities are presently unknown, but they are often associated with autoimmune pathology. These two observations are the third and the fourth pediatric cases described.
Anemia↗
Induction of ANT2 gene expression in liver of patients with mitochondrial DNA depletion.
We have previously described two cases of children with a liver mitochondrial DNA (mtDNA) depletion syndrome, characterised by a low ratio of mtDNA to nuclear DNA. Light microscopy performed on liver biopsy showed abnormal hepatocytes with a characteristic 'oncocytic' appearance, indicative of perturbed oxidative phosphorylation. The adenine nucleotide translocator (ANT), the last step in oxidative phosphorylation catalyses the exchange of adenosine diphosphate (ADP) to adenosine triphosphate (ATP) between the cytosol and mitochondria. The ANT2 gene, which is not normally expressed in human tissues, encodes an isoform preferentially expressed under conditions of glycolytic metabolism. ANT2 gene expression is regulated by a transcription factor involved in a molecular mechanism selecting for the import of glycolytic ATP into the mitochondrial matrix. This ATP import is required in highly proliferative cells, such as tumour cells, which are highly dependent on glycolysis for ATP synthesis. We postulated that, as a result of the defective oxidative phosphorylation observed in these patient biopsies, the ANT2 expression would be induced. We simultaneously quantified the mtDNA depletion and the ANT2 gene expression in liver biopsies from the two patients and six controls. ANT2 mRNA levels were significantly increased in the two patient liver biopsies. Moreover, in one patient, the liver mtDNA depletion was found to be partially reversed after less than 4 years and this reversion was coupled to a concomitant decrease of the ANT2 expression. These results suggest that dysfunction of oxidative phosphorylation could lead to a switch from mitochondrial to glycolytic ATP production, to restore tissue-specific energy requirements.
Journal Article↗
Fading renal hyperfiltration in children following liver transplantation.
In a prospective longitudinal study, we investigated the renal function (RF) of 23 children before and after orthotopic liver transplantation (OLT). The aim was to assess both the outcome of pretransplant hyperfiltration and the clinical nephrotoxic effects of cyclosporin A (CsA); children with decreased RF prior to OLT were therefore excluded. The RF study of the 13 remaining patients included glomerular filtration rate (GFR) and effective renal plasma flow (RPF) measured by inulin (Cin: mL/min/1.73 m2) and para-amino hippurate (Cpah: mL/min/1.73 m2) clearances, respectively. Hyperfiltration prior to OLT was observed in six children, i.e. Cin>170 [range 172-230] and Cpah>800 [808-1,133]. A significant decrease in RF was noted as soon as 6 months after OLT: Cin (mean+/-SD)=107+/-23 vs. 158+/-46 (p<0.003); Cpah=583+/-119 vs. 791+/-243 (p<0.004). This was due to loss of hyperfiltration in the six children, as there was no significant difference in RF before and 6 months after OLT in the other seven children. With a 36-month follow-up, there was no correlation between CsA trough blood level and RF. In conclusion, following OLT, RF underwent early changes owing to loss of prior hyperfiltration in children without impaired RF before OLT. In addition, no evidence of CsA nephrotoxicity was found and RF remained stable during follow-up.
Acute Kidney Injury↗
Impact of chronic hepatitis B and interferon-alpha therapy on growth of children.
Interferon-alpha (IFN) has been approved as treatment for children with chronic hepatitis B (CHB). The aims of this study were to assess the impact on children's growth of the disease itself and of IFN treatment. The growth of 142 children with CHB (70 IFN-treated, 72 untreated) was monitored for a minimum of one year. Regression analysis models were used to determine which of the variables most affected children's growth. After adjusting for racial differences, the population of 142 children with CHB had a mean baseline height for age percentile of 39 and a mean baseline weight for age percentile of 38, which were significantly different (P < 0.0001) from the 50th percentiles of their respective reference populations. The height for age Z score of untreated children was inversely correlated with serum hepatitis B virus DNA and aspartate aminotransferase levels, and the weight for age Z score was inversely correlated with serum hepatitis B virus DNA levels. While undergoing IFN therapy, children displayed a "U-shaped" growth pattern, such that height for age and weight for age Z scores at 3 or 6 months were lower than scores at baseline or 12 months. In this study the average child with CHB showed compromised growth even in the absence of IFN therapy. During IFN therapy, children's growth was temporarily disrupted.
Adolescent↗
Apolipoprotein B48 glycosylation in abetalipoproteinemia and Anderson's disease.
BACKGROUND & AIMS: Abetalipoproteinemia and Anderson's disease are hereditary lipid malabsorption syndromes. In abetalipoproteinemia, lipoprotein assembly is defective because of mutations in the microsomal triglyceride transfer protein. Here, we evaluated the intracellular transport of apolipoprotein B48 to localize the defect in Anderson's disease. METHODS: Asparagine-linked oligosaccharide processing of apolipoprotein B48 in normal and affected individuals was determined by the endoglycosidase H and F sensitivities of the protein after metabolic labeling of intestinal explants in organ culture. Cell ultrastructure was evaluated with electron microscopy. RESULTS: In Anderson's disease as in normal individuals, there was a time-dependent transformation of high mannose endoglycosidase H-sensitive oligosaccharides, of endoplasmic reticulum origin, to complex endoglycosidase H-resistant oligosaccharides, added in the Golgi network. In contrast, despite the translocation of apolipoprotein B48 into the endoplasmic reticulum in patients with abetalipoproteinemia and in biopsies treated with Brefeldin A, which blocks anterograde transport between the endoplasmic reticulum and the Golgi network, there was no transformation of endoglycosidase H-sensitive oligosaccharides. CONCLUSIONS: In abetalipoproteinemia and Anderson's disease, apolipoprotein B48 is completely translocated into the endoplasmic reticulum, but only in Anderson's disease is the protein transported to the Golgi apparatus. This suggests that Anderson's disease is caused by a post-Golgi cargo-specific secretion defect.
Abetalipoproteinemia↗
Omeprazole combined with amoxicillin and clarithromycin in the eradication of Helicobacter pylori in children with gastritis: A prospective randomized double-blind trial.
OBJECTIVES: The aim of this multicenter prospective, randomized, double-blind study was to assess the efficacy of the combination of omeprazole, amoxicillin, and clarithromycin (OAC) for the treatment of Helicobacter pylori gastritis in children. STUDY DESIGN: Seventy-three children with dyspeptic symptoms were included in the trial (mean age 10.8 years; range, 3.3 to 15.4). Patients were randomized to receive OAC or amoxicillin and clarithromycin (AC) for 7 days. H pylori status was assessed before and 4 weeks after eradication treatment, by use of the carbon 13-labeled urea breath test. RESULTS: In intent-to-treat analysis (n = 63), eradication rates were 74.2% (95% CI, 58.7 to 89.6) in the OAC group and 9.4% (95% CI, 0 to 19.5) in the AC group. In per-protocol analysis (n = 53), the eradication rate increased to 80% (95% CI, 64.3 to 95.7), remaining significantly higher than in AC group (10.7%; 95% CI, 0 to 22.2). Resistance of strains to clarithromycin was rare (3/39 = 7.7%) and was not associated with failure of treatment. Adverse events were reported in 24.6% of patients and remained mild. CONCLUSION: This study shows that 1-week OAC triple therapy results in successful eradication of H pylori in 75% of children with gastritis.
Adolescent↗
Deep sedation for upper gastrointestinal endoscopy in children.
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Anesthesia↗
Apolipoprotein B Arg3500Gln mutation prevalence in children with hypercholesterolemia: a French multicenter study.
BACKGROUND: Familial defective apolipoprotein B-100, a dominantly inherited form of hypercholesterolemia caused by a single Arg3500Gln mutation, is silent in childhood but may confer a high risk of cardiovascular disease in adulthood. The objective was to determine the prevalence of familial defective apolipoprotein B-100 in hypercholesterolemic French children and to provide a basis for targeting screening efforts in this population. METHODS: One hundred ninety children attending 13 pediatric clinics distributed throughout France were included based on the presence of type IIa hypercholesterolemia with a plasma low-density lipoprotein-cholesterol level of more than 130 mg/dL. The Arg3500Gln mutation was detected in dried blood spots using a polymerase chain reaction assay combined with enzymatic restriction. RESULTS: Three hyperlipidemia phenotypes were found: monogenic dominant pure hypercholesterolemia (n = 117), polygenic hypercholesterolemia (n = 43), and combined hyperlipidemia (n = 11). Three unrelated children were heterozygous for the Arg3500Gln mutation; all three had monogenic dominant pure hypercholesterolemia (3/94 families; 3.2%), yielding a prevalence of 1.83% (3/164) in hypercholesterolemic children, which is similar to prevalences reported in European adults. CONCLUSIONS: The familial defective apolipoprotein B-100 mutation was common (1/31) in children with a phenotype of familial hypercholesterolemia, supporting screening in this population with the goal of preventing premature cardiovascular events.
Adolescent↗
[Familial hyperchylomicronemia with a new mutation of the lipoprotein lipase gene].
INTRODUCTION: Familial hyperchylomicronemia is a rare autosomal recessive disease caused by lipoprotein lipase deficiency. CASE-REPORT: A nine month-old girl presented with eruptive xanthomas revealing a familial hyperchylomicronemia. No lipoprotein lipase activity was found. DNA analysis revealed a novel homozygous non-sense mutation of the lipoprotein lipase gene at the codon 288. The parents were heterozygous carriers. DISCUSSION: Familial hyperchylomicronemia usually presents with eruptiva xanthomas, abdominal pain, pancreatic manifestation and lipemia retinalis. Papulo-nodular xanthomas occur more frequently in children as in our case. Eighty lipoprotein lipase gene mutations have been recorded to date. The gene locates on chromosome 8. Only 9 non-sense mutations have been described which lead to a truncated protein. In our case, no enzymatic activity was detected probably due to an absence of secretion of the enzyme, even though catalytic activity persisted. The homozygous carrier status leads to hyperchylomicronemia whereas the heterozygote status may lead to mixed hyperlipidemia with an increased risk of atherosclerosis. The screening of lipoprotein lipase gene mutations should be carried out in all families with hyperchylomicronemia, regardless of the presence or absence of xanthomas.
Chromosome Aberrations↗
Review of living related versus cadaveric donors in pediatric liver transplantation: the lyon experience.
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Cadaver↗