Jean-Pierre Farriaux

Description d'un nouveau type de méliturie: la sialurie jean montreuil, gérard biserte, gérard strecker, geneviève spik

Abstract The authors describe a new type of melituria: sialuria, discovered in a threeyear-old child and characterized by a daily elimination varying between 5.8 and 7.2 g of N-acetylneuraminic acid. This compound was isolated, crystallized and identified on the basis of physico-chemical and structural studies.The authors describe a new type of melituria: sialuria, discovered in a threeyear-old child and characterized by a daily elimination varying between 5.8 and 7.2 g of N-acetylneuraminic acid. This compound was isolated, crystallized and identified on the basis of physico-chemical and structural studies.

Normal gastric histology in Helicobacter pylori-infected children

BACKGROUND In adults, Helicobacter pylori infection is always associated with gastritis or ulcer. However, very active gastritis and ulcers are rarely seen in children. The aim of the present work was to study the relationships between H. pylori and gastric mucosa in children. METHODS Eighty infected children and adolescents including 48 (60%) neurologically impaired institutionalized patients, aged 2 months-22 years (mean 11.7 +/- 5.2 years) were studied retrospectively. All the patients underwent gastroscopy, and three antral and two fundic biopsy specimens were taken for histology and bacteriology. RESULTS A normal gastric mucosa was found in 22 of 80 patients (27.5%), whereas the others had gastritis (n = 58, 72.5%). There were no statistical differences between patients with normal histology and those presenting with gastritis for age, sex, ethnic background, symptoms, and the degree of bacterial colonization. The macroscopic aspect of gastritis was less frequently found in children with a normal histology compared with those with histological gastritis (p < 0.001). CONCLUSIONS These data show that H. pylori infection can be associated with a normal gastric histology in children.

Diagnosis of variants of hyperphenylalaninemia by determination of pterins in urine

Assessment of urinary pterins is proposed as a rapid method for recognition of the variants of hyperphenylalaninemia. This is achieved by means of oxidation of pterins by iodine in acidic and alkaline solutions and then by high performance liquid chromatography on a cation-exchange column with fluorimetric detection. In biopterin-synthetase deficiency, only neopterin accumulated; in dihydropteridine-reductase (DHPR) deficiency and in phenylketonuria, high levels of pterins are found, but BH4 levels, absent in the former and high in the latter, allow a differential diagnosis. Phenylalanine loads in the controls also lead to increased elimination of pterins, but with a pattern different from that found in phenylketonuria. This method can be used before dietary treatment and thus can be proposed for all newly detected hyperphenylalaninemic babies.

Influence of recombinant interferon alpha on nutritional status and growth pattern in children with chronic viral hepatitis

AbstractAnorexia and weight loss are frequently reported as adverse effects during recombinant interferon α (rIFN-α) treatment. The aim of the present study was to assess both nutritional status and growth of children and adolescents treated with rIFN-α for chronic viral hepatitis. Eleven patients aged 4–16 years with histologically proven chronic active hepatitis (hepatitis B,n=9; hepatitis C,n=2) receiving rIFN-α subcutaneously thrice a week for 6 months were studied. Weight and height increments were assessed during the 6 months before starting iIFN-α. Weight and height were measured every 3 months (M0, M3, M6) during the 6 months of rIFN-α treatment, then every 6 months during the follow up period (6–36 months). Weight decreased in every child during rIFN-α treatment (weight loss varies from 0.5 to 2.6 kg after 3 months of treatment). Weight/age Z-score decreased from 0.12 at M0 to −0.69 at M3 (P<0.01), then increased between M3 and M6 (−0.33) (P<0.01), but normalized (0.02) only 6 months after completion of treatment. Nutritional status was significantly impaired during treatment (Z-score for weight/height decreased from 0.18 at M0 to −0.74 at M3,P<0.01) and recovered progressively thereafter. Height and height velocity were not modified by rIFN-α treatment. A reduction of the caloric intake observed between M0 and M3 might explain these features.ConclusionSignificant but transient abnormalities of the nutritional status are encountered constantly at the beginning of rIFN-α therapy without any deleterious effect on growth. Information of the families and nutritional intervention during treatment should be required, in order to limit the importance of weight loss.

Developmental aspects of pteridine metabolism and relationships with phenylalanine metabolism.

Large variations of pteridine elimination occur in childhood, due to the ontogenic development of the metabolism of tetrahydrobiopterin. The main feature is the slow maturation of biopterin synthesis whereas neopterin synthesis is high at birth; thus a high neopterin to biopterin ratio (4.4 +/- 2.1) occurs in the neonatal period, a ratio which then decreases to adult values (0.5 +/- 0.2). Comparing pteridine elimination of PKU patients with that of controls of the same age, a high excretion of biopterin and, to a lesser extent, of neopterin is found. In normal subjects, following an oral phenylalanine load, biopterin levels in urine and serum also increase, whereas variations of neopterin concentration are small. In rats, phenylalanine also leads to an increase of serum biopterin whereas liver biopterin decreases. This suggests that the main explanation for the biopterin increase in serum and in urine by phenylalanine is a release of the intracellular biopterin by the aminoacid.

Improvement of Nutritional Status in Cholestatic Children with Supplemental Nocturnal Enteral Nutrition

Protein energy malnutrition is a common complication in cholestatic children in a hepatic transplant program, and may be detrimental to the postoperative outcome. Improvement of the nutritional status may be of obvious importance to improve the prognosis. This study compared oral nutrition with oral nutrition supplemented with nocturnal enteral feeding in children with prolonged cholestasis. In six children with prolonged cholestasis (conjugated bilirubin over 25 mg/L and/or GGT over 110 IU/L in infants aged less than 3 months or over 50 IU/L in older infants and/or alkaline phosphatase over 500 IU/L, for more than 3 months), we compared a 4 to 6 month period with oral nutrition and similar periods with 10 to 12 h nocturnal enteral feeding given at home as an energetic supplement. Energy intake during the second period was 180-200% of recommended dietary allowances. No ascites was found in the six patients during the study period. The Z scores of body weight, weight expressed as percent of ideal body weight (IBW), weight/height2, and arm circumference/head circumference were calculated at the beginning and at the end of each period. With only oral nutrition, a diminution in percentage of ideal W/H and a diminution in Z score for the body weight were observed in five of six patients. At the end of the second period, the average of all of the nutritional indexes was increased and the Z score for the body weight was also increased in four of six patients. Significant statistical differences (p less than 0.05) were found in W as percentage of IBW and the Z score for log W/H2.(ABSTRACT TRUNCATED AT 250 WORDS)

Brachmann-de Lange syndrome: pre- and postnatal findings.

Brachmann-de Lange syndrome (BDLS) is a well-delineated and relatively common syndrome. However, prenatal diagnosis has never been reported, even if in some cases ultrasonography demonstrated one or more manifestations of the syndrome. We report on 3 cases: in the first 2 cases, prenatal ultrasonography demonstrated some signs of the condition. The third represents, to our knowledge, the first prenatal diagnosis of BDLS. We also present a review of the literature concerning pre- and postnatal findings in this syndrome.

Intraoperative endoscopic diagnosis of heterotopic gastric mucosa in the ileum causing recurrent acute intussusception

Heterotopic gastric mucosa (HGM) may be found anywhere in the gastrointestinal tract, most often in a Meckels diverticulum. Approximately 30 cases of HGM, located in the small bowel beyond the ligament of Treitz and not associated with a Meckels diverticulum, have been reported. They were most often revealed by intestinal intussusception, occasionally by perforation of an intestinal ulcer or intestinal bleeding. We report a 4-year-old boy who had three attacks of acute intestinal intussusception over a 5-month period resulting in surgery. Both physical examination and barium examination of the small bowel and large intestine were found to be normal between attacks. Peroperative palpation of the small bowel was normal during the three laparotomies. During the third operation, he underwent an intraoperative endoscopy (IOE), which revealed a polypoid mass 2 cm in diameter and 0.5 cm in height, 40 cm proximal to the ileocaecal valve. Histologic examination showed HGM with fundic glands, and chief and parietal cells. This case emphasizes the interest of IOE, the main indications of which are the localization of unknown sites of gastrointestinal bleeding and the search for hamartomatous polyps of the Peutz-Jeghers syndrome for polypectomy and/or segmental resection.

2-Acetamidoglucal, a new metabolite isolated from the urine of a patient with sialuria

A new metabolite, namely 2-acetamidoglucal, has been found in the urine of a patient with sialuria in addition to the metabolites N-acetylneuraminic acid, N-acetylmannosamine, N-acetylglucosamine and 2-deoxy-2,3-dehydro-N-acetylneuraminic acid reported earlier. the structure has been identified by mass spectrometry and 360 MHz proton nuclear magnetic resonance spectroscopy and verified by synthesis. All accumulated compounds fit into the metabolic pathway for the biosynthesis of CMP-N-acetylneuraminic acid. Sialuria is discussed in terms of a failure of regulation of UDP-N-acetylglucosamine 2-epimerase.

Lipoprotein pattern and plasma lecithin cholesterol acyl transferase activity in children with Alagille syndrome

Alagille syndrome is frequently associated with hyperlipidemia and xanthoma. The aim of the study was to assess the lipid profile (plasma lipoproteins, apolipoproteins (apo)) and lecithin cholesterol acyl transferase (LCAT) activity, with and without treatment with cholestyramine in Alagille syndrome. Five children (mean age = 6 +/- 4 years) with Alagille syndrome were studied at two different times while receiving no treatment, and while receiving cholestyramine. They were compared with 12 normal controls, who were not different from patients for age and sex. In Alagille syndrome, total serum cholesterol, triglycerides and phospholipids were elevated compared with the controls (P < 0.008). VLDL-cholesterol, LDL-cholesterol, HDL-triglycerides, LDL-triglycerides and VLDL-phospholipids were higher, whereas HDL-cholesterol was lower than controls (P < 0.03). Apo B, CIII, E and lipoprotein particles Lp AI were higher (P < 0.001), whereas Lp AI:AII was lower than controls (P < 0.03). Lipoprotein-X was present in the 5 children with Alagille syndrome and explained in part the elevation of plasma cholesterol, phospholipids, and apo CIII. LCAT activity was decreased (P < 0.01) and might cause some abnormalities of HDL with lower cholesterol, higher triglycerides, apo E and apo CIII contents than controls, and abnormalities of VLDL and LDL with higher cholesterol, triglycerides, phospholipids and apo B contents than controls. Some of the risk factors of atherosclerosis were found in Alagille syndrome, namely high levels of plasma cholesterol, LDL cholesterol, apo B, apo B/apo AI. Treatment with cholestyramine resulted in a few modifications to the lipid profile, while lipoprotein-X and the decrease of LCAT activity persisted.