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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.

Our aim was to collect a large number of cases to characterize clinical presentation, outcome, and prognosis of chronic intestinal pseusoobstruction in children. We conducted a retrospective multicenter study that included children treated for chronic intestinal pseusoobstruction defined as recurrent episodes of intestinal obstruction with no mechanical obstruction, excluding Hirschsprung's disease. In all, 105 children, 57 boys and 48 girls, were studied, including five familial forms. Prenatal diagnosis was made in 18 patients. Eighty patients were less than 12 months old at onset; the disease began at birth for 37 patients. The most frequent signs were abdominal distension, vomiting, and constipation. Megacystis was noted in myopathies (7 cases), neuropathies (10 cases) and unclassified forms (13 cases). For all but three cases (two patients with CMV infection, one with Munchhausen-by-proxy syndrome), the associated diseases and disorders could not account for chronic intestinal pseusoobstruction as a secondary disorder. At least one full-thickness biopsy from the digestive tract was studied for 99 patients. The diagnosis recorded was visceral neuropathy in 58 cases, visceral myopathy in 17 cases, and uncertain or normal biopsy results in 24 cases. Seventy-eight children were fed intravenously, and only 18 were able to be fed orally throughout their illness. Seventy-one patients underwent surgery during their illness, and 217 surgical procedures, a mean of 3 per patient, were performed. Ostomy was the most performed procedure. Follow-up continued in 89 patients for 3 months to 16 years (mean 85 months). Forty-two patients were still fed by parenteral (39 patients) or enteral nutrition (3 patients) at the time of the study. Eleven patients died between the age of 1 month and 14 years 7 months.

En France, en 1992, l'industrie propose pour les nourrissons une variete considerable de laits infantiles: pas moins de 59 specialites. Malgre les limites de composition fixees par la reglementation sur les aliments lactes dietetiques pour nourrissons (ALDN), certains fabricants proposent plus de deux laits dans une meme categorie d'usage! Malgre tout, ces laits sont loin d'etre equivalents et l'ouverture du marche uique europeen risque de compliquer encore le choix du meilleur lait pour chaque enfant. Nous presentons une approche graphique des differences principales entre ces preparations, approche que nous pensons utile au choix rapide mais raisonne d'un lait.

We report the results of a prospective study of catheter-related sepsis (CRS) in 154 gastroenterology paediatric patients treated for medical (n = 102) or surgical (n = 52) disorders. Over 2 years, 185 central venous catheters (CVC) were placed, including 155 Broviac and 30 Jonathan Shaw CVC. CVC remained in place 13,331 days (6,539 days of cyclic parenteral nutrition), with a mean catheter life of 72 days. Forty-eight episodes of CRS occurred, most of them due to coagulase-negative staphylococci (n = 29) and Staphylococcus aureus (n = 17). CRS rate was 0.26, with an overall incidence of 1 infection per 278 days of parenteral nutrition (PN). Factors significantly associated with CRS were: age 1–5 years (p < 0.01), a medical indication for treatment (p < 0.001) and summer months of PN (p < 0.01). Interestingly, CRS occurred predominantly (65%) within the first 2 months following CVC placement and the risk of infection correlated with local haemorrhage at the time of insertion (p < 0.01). Appropriate systemic therapy, without removing the catheter, permitted resolution of 90.9% (4044) of all CRS and 100% (2828) of CRS due to coagulase-negative staphylococci.

Eight children on long-term, total parenteral nutrition (TPN) were found to have elevated aluminium (Al) levels in plasma (51 ± 11 μg 1 1 ), urine (223 ± 78 μg 24 h) and bone. The load of Al in TPN solution was 232 ± 89 μg/day, and, among the different parenteral solution components high Al concentrations were found in amino-acids, calcium gluconate, potassium lactate, and trace elements, representing respectively 40%, 30%, 15%, and 10% of the total Al intakes. The authors conclude that children receiving long-term TPN have excessive Al intakes and are exposed to Al toxicity. The prevention of Al contamination requires careful control of the TPN components.

Although systematic vitamin D supplementation in adolescents remains debated, rickets is nevertheless a well recognized pathology in this age group. Adolescence is an at-risk period because of rapid growth, insufficient calcium intake and/or vitamin D status. Surveys have shown that calcium intake is insufficient (1000 mg a day) in 45% of boys and 71% of girls and that vitamin D status is deficient (25-OH-D10 ng/ml). The aims of the study carried out by the Calcium Group of the Société Française de Pédiatrie, were to evaluate the frequency of rickets, and to define the criteria for the adolescent population at risk. Forty-one adolescents with rickets were hospitalized between 1985 and 2000. Most of the cases were from the Northern France: 20 from Paris and suburbs, eight from the North-West, four from the North, four from the North-East; five were from the Center of France. The mean age was 13 years and two months for the 28 girls, and 14 years and four months for the 13 boys. Eighty per cent of the adolescents were from immigrant families (33/41): 15 were from sub-Saharan Africa, ten from North Africa, six from Pakistan and two from Turkey. Two thirds of the adolescents were hospitalized in the 2nd quarter of the year. Some adolescents suffered from lower limb pain, 16 had deformations of lower limbs, particularly genu valgum, associated with pain; seven others had either muscle spasms (4), tetany (3). Serum calcium level was low (average 1.84 mmol/l: [1.1-2.5]), and serum 25-OH D level was extremely low. Radiographic characteristics observed were metaphyseal strips on the knees, with condensed edges at times, with the presence of bone demineralization. The treatment combined calcium and vitamin D, and was often administered intravenously when a hypocalcemia was detected. Rickets is not frequent in adolescents, but nonetheless this pathology is not exceptional, and the number of cases is probably under-estimated. Rickets affects immigrant adolescents in particular but nevertheless could also present a certain risk period for the general population.

The study was carried out by the GFHGNP to determine the annual incidence of symptomatic celiac disease in children.The diagnostic criteria were: symptomatic patients diagnosed under 15 years of age during 1996, villous atrophy and positivity of antigliadin and/or other antibodies. Cases were collected from referral centers, general hospital pediatric departments and private pediatricians with endoscopic practice.The study involved roughly half of the French pediatric population in 41 out of the 95 French districts. In all, 124 patients were collected: 76 girls and 48 boys. By geographical areas, in 30 districts where collection of data was complete which counted 186,285 births, the yearly incidence varied from 1/1731 births to 1/3110. (0.57@1000 to 0.32@1000). On the whole there were 77 cases i.e. an annual incidence of 1/2419 or 0.41@1000 (confidence interval 95%: 0.32 to 0.50@1000). Lower incidences were observed in the district of Paris: 1/4865 (0.21@1000) and Lyon: 1/3310 (0.27@1000). Those lower incidences could be explained by the difficulties of collecting the data in the biggest urban areas. The first signs occurred before one year of age in 73% of the cases, during the second year of life in 20.5% and after 3 in only 6.5%. The diagnosis was made before 2 years of age in 77% of the cases and after 3 in only 13%. In order of frequency symptoms were: failure to thrive (80%), diarrhea (59%), anorexia (59%), abdominal distension (57%), weight under 2 standard deviations (43%), short stature (43%).Compared with previous studies in two French districts between 1975 and 1990, the annual incidence of symptomatic celiac disease in children appears to be on the rise. The usual clinical signs continue to be observed.

Our aim was to collect a large number of cases to characterize clinical presentation, outcome, and prognosis of chronic intestinal pseusoobstruction in children. We conducted a retrospective multicenter study that included children treated for chronic intestinal pseusoobstruction defined as recurrent episodes of intestinal obstruction with no mechanical obstruction, excluding Hirschsprung's disease. In all, 105 children, 57 boys and 48 girls, were studied, including five familial forms. Prenatal diagnosis was made in 18 patients. Eighty patients were less than 12 months old at onset; the disease began at birth for 37 patients. The most frequent signs were abdominal distension, vomiting, and constipation. Megacystis was noted in myopathies (7 cases), neuropathies (10 cases) and unclassified forms (13 cases). For all but three cases (two patients with CMV infection, one with Munchhausen-by-proxy syndrome), the associated diseases and disorders could not account for chronic intestinal pseusoobstruction as a secondary disorder. At least one full-thickness biopsy from the digestive tract was studied for 99 patients. The diagnosis recorded was visceral neuropathy in 58 cases, visceral myopathy in 17 cases, and uncertain or normal biopsy results in 24 cases. Seventy-eight children were fed intravenously, and only 18 were able to be fed orally throughout their illness. Seventy-one patients underwent surgery during their illness, and 217 surgical procedures, a mean of 3 per patient, were performed. Ostomy was the most performed procedure. Follow-up continued in 89 patients for 3 months to 16 years (mean 85 months). Forty-two patients were still fed by parenteral (39 patients) or enteral nutrition (3 patients) at the time of the study. Eleven patients died between the age of 1 month and 14 years 7 months.

Congenital dislocation of the hip varies greatly in incidence among different regions. This work is aimed at comparing results of clinical investigation and ultrasonography of the hip in Languedoc-Roussillon and Brittany.Two thousand eight hundred and twelve and 2,809 neonates admitted to Nîmes and Vannes hospitals respectively, were enrolled in a prospective study. Clinical examinations were made according to the protocol established by the "Groupe d' études en orthopédie pédiatrique". Ultrasound investigations were performed in every risk case.No dislocation occurred in the 4946 neonates without risk factors. In the 675 neonates with risk factors, 213 ultrasonographic examinations were abnormal, more frequently in the Brittany group (P0.001); nine dislocations were observed. A familial history of hip dysplasia (P0.001) and the addition of two risk factors (P0.001) were more frequent in Brittany. One hundred and six cases required treatment, more frequently in Brittany (P0.001).Some clinical risk factors and delayed ossification or hip dysplasia at ultrasound examination are significantly more frequent in Brittany. Clinical examination with selective ultrasonography is a reliable method, allowing early diagnosis and treatment of delayed dislocations.

Resume Le diagnostic de la maladie luxante de hanche chez le nouveau-ne reste une source de difficulte tant pour le pediatre que pour l'orthopediste. En effet, l'examen clinique et la radiologie standard ont fait la preuve de leur limite pour depister les hanches anormales avant l'âge de quatre mois. Depuis quatre ans, l'echographie de la hanche a pris une place importante dans le diagnostic des defauts de developpement de l'articulation. La technique mise au point par R. Graf a permis de visualiser les differentes composantes, osseuses, cartilagineuses et musculo-ligamentaires de l'articulation coxo-femorale du nouveau-ne 1

Prolonged parenteral nutrition is an indispensable technique in a number of gastro-intestinal and non-gastro-intestinal indications in the field of paediatrics. The catheter should be placed in the superior vena cava either percutaneously or surgically. The maintenance of the infusion line, the dressings and the monitoring of the child should be conducted by a specialised nursing team. The carbohydrate and protein nutrients are prepared in the pharmacy and should be adapted daily. The complexity of this technique requires a close collaboration between physicians, surgeons, pharmacists and biochemists. The iatrogenic and metabolic complications may be multiple and severe, but can be reduced to a minimum by a rigorous methodology.

Clinical and biochemical data of 22 children admitted from May 1982 to May 1983 were reviewed to study their values for early diagnosis of pertussis. Direct immunofluorescence for Bordetella pertussis was positive in 9 of the 12 confirmed cases and seems to be a reliable test.

In order to specify the factors responsible for the hepatic changes occurring during total parenteral nutrition (TPN) and to propose a preventive treatment, 30 infants treated for severe protracted diarrhea were prospectively distributed into 4 groups: I (n = 10): controls; II (n = 7): oral administration of human milk since the 15th day of TPN; III (n = 5): oral metronidazole since the 15th day; IV (n = 8): parenteral antibiotic therapy for septicemia since the 1st day. Contrary to group IV, the first 3 groups were randomly constituted on the 15th day. Liver function tests, bile and serum biliary acids, duodenal flora, hepato-biliary ultrasonography and, in 12 cases, liver histology were sequentially studied. Liver function changes were observed on the 15th day in all groups. An improvement occurred 15 days later in the infants treated, when the control group worsened (p less than 0.02). A significant increase of bile chenodeoxycholic acid levels was observed in the control group only (p less than 0.01), without change in lithocholic acid levels. These results lead the authors to recommend the preventive use of metronidazole or human milk during prolonged TPN in infants.

A case of intestinal pseudo-obstruction in a 4 1/2 year-old boy is reported. All etiologic investigations remained negative. Management successively required continuous enteral feeding, ileostomy then total parental nutrition. The proof of a chronic barbiturate intoxication, induced by the mother, was made only after 2 1/2 years of follow-up, when the patient was in a critical condition. Separation of the child from his family led to complete disappearance of symptoms within a few days.

Pneumococcal sepsis and pneumonia in the neonate are rarely reported. They appear either as an early-onset respiratory distress with a high mortality rate or as a delayed infection. The authors describe 3 term neonates with an early respiratory distress syndrome and recall the main points of this severe foeto-maternal infection. Neonatal pneumococcal sepsis is strikingly similar to early-onset group B streptococcal infection. The isolation of the germ in the mother's vaginal flora is hazardous. Such cases suggest that early respiratory support and intensive circulatory resuscitation lead only to a slight decrease in the mortality rate, and thus preventive antibiotherapy is a necessity.

We report for the first time a case of Crohn's enteritis associated with a chronic tubulo-interstitial nephritis in an adolescent. The illness started insidiously in an 11 year-old boy who had suffered from failure to thrive and protracted watery diarrhea. At presentation the patient had an inflammatory bowel disease located to the left colon but no renal dysfunction. Until the age of 15, the intestinal symptoms were stable but a progressive renal insufficiency developed. A percutaneous renal biopsy was then performed which showed a widespread chronic tubulo-interstitial nephritis. Following a 6 months corticosteroid treatment, renal dysfunction seemed to be stabilized. However, delayed growth and corticosteroid dependency led to total colectomy. Pathologic examination showed granulomatosis involvement of the entire colon and severe interstitial nephritis with neither linear nor granulous deposits along tubular basement membranes. After a 2 year-delay following the colectomy, renal function was stabilized and a catch up growth was achieved.

The effect of cyclic perfusion on glucose metabolism and insulin secretion was determined in 10 children under prolonged parenteral nutrition according to glycosylated hemoglobin (HbA1c) levels and C-peptide urinary excretion. Lack of glycosuria and increase in HbA1c levels (m: 4.4 +/- 0.7%) indicates a good regulation of glycemia. A ten times increase in urinary C-peptide (m: 47.2 +/- 33.3 nmol/m2-1) as compared with controls shows an hypersecretion of insulin induced by the high infusion delivery of glucose. This hypersecretion of insulin, which probably involves long-term risks, may be reduced if parenteral nutrition does not contain more than the energetic requirements for growth and if about 30% of the energetic intake is given as a lipid perfusion.

A 7 month-old infant presented suddenly in coma with left hemiplegia and hemorrhage on ophthalmoscopy. No vascular anomaly was found at surgery; however, examination of the clot showed an abnormal vessel. This case calls for a review of the diagnostic attitude in cases of spontaneous intracerebral hemorrhage in infants.

We report the beneficial effects of calcium infusions in a child with hereditary resistance to 1,25(OH)2D and alopecia. This patient after transient responsiveness to vitamin D derivatives became unresponsive to all therapy despite serum 1,25(OH)2D concentrations maintained at levels approximately 100-fold normal. A 7-mo trial with calcium infusions led to correction of biochemical abnormalities and healing of rickets. Bone biopsies (n = 3) showed a normal mineralization and the disappearance of the osteomalacia. Cultures of bone-derived cells demonstrated a lack of activation of 25-hydroxyvitamin D 24-hydroxylase and osteocalcin synthesis by 1,25(OH)2D3 (10(-9) and 10(-6) M). These results demonstrate that even in the absence of a normal 1,25(OH)2D3 receptor-effector system in bone cells, normal mineralization can be achieved in humans if adequate serum calcium and phosphorus concentrations are maintained; and calcium infusions may be an efficient alternative for the management of patients with this condition who are unresponsive to large doses of vitamin D derivatives.

Rapid diagnosis by immunofluorescence (IF) has enabled us to study the epidemiology of acute viral respiratory diseases in infants admitted to the CHRU at Caen between January 1980 and December 1982. 809 nasal aspiration samples were examined. Respiratory Syncytial Virus (RSV) was recovered in 36% of cases. These were observed during the four winter outbreaks which occurred during the study period and were extensive in 1980-1981 and 1982-1983. A virus was demonstrated in 13.5% of the 515 RSV negative specimens: 25 Rhinovirus, 21 Myxovirus parainfluenzae 3, 19 Adenovirus, 3 Myxovirus influenzae A, 2 Myxovirus influenzae B. RSV is the predominant pathogen as it is the most frequent and is responsible for more severe forms. However, epidemics vary from year to year and from one town to another. Rhinovirus, Myxovirus parainfluenzae 3 and Adenovirus infections are less frequent. Rhinovirus infections occur throughout the year and are certainly underestimated as isolation of the virus is difficult. Most Myxovirus parainfluenzae 3 cases occur in winter, and IF largely facilitates their diagnosis. Adenovirus infections are endemic and serotype 7 is frequent.

Ultrasound was established as a remarkable means of recognizing dysplasia of hips or dislocations in the neonatal period following the work of R. Graf and later in France of H. Gomes and J. Schirrer et al. All the same, different techniques have been suggested and the role of the examination has been debated. Those who advocate routine screening of all pregnancies are in opposition to those who employ it selectively in cases that are known to be abnormal or at risk. The authors report a study carried out in their maternity department using ultrasound of the hip as an examination complementary to clinical screening. Echography has been shown to be able to give more information than radiography of the pelvis which cannot usefully be employed for screening until the age of 4 months. In 1781 newborns examined consecutively the indication for ultrasound of the hip was suggested in 201 cases (11%) and showed an abnormality in 42 patients (21% of the examinations carried out). Exenteration in 2, dysplasia in 8, failure to ossify correctly in 25, and endoscopic laxity without a morphological abnormality in 7 cases. The clinical signs that were used to predict an abnormality on ultrasound were: feminine sex. Clinical appearance of instability and the association of 2 risk factors. 3 cases of dislocation were found. Two of them occurred early and one at the age of 5 months who was a girl delivered by the breech and in whom a delay in ossification was noted at birth.(ABSTRACT TRUNCATED AT 250 WORDS)

A variety of histologic aspects have been reported to occur during the course of parenteral nutrition(PN)in pediatrics as well as in adults patients. Phospholipidosis has been described with drugs administration. After a month of TPN we studied liver histology in 7 infants ranged from 2 to 8 months. All were without any previous liver disease and presented protracted diarrhea requiring bowel rest. PN Provided daily nitrogen(602±37mg/kg)and no protein energy(369±51KJ/kg) intakes, without intravenous fat emulsion during the first month. In addition to repeated liver function tests, we performed percutaneous liver biopsy after 30 PN days, using Hepafix needle(1,4mm). Liver specimens were fixed in buffered formalin and stained using lipids histochemistry:oil red O,Nils blue, Holczinger, Adams and Baker OTAN. Results indicated hepatocytes and macrophages phospholipidis deposits in 5 patients. Other abnormalities were observed including:portal and periportal fibrosis(5/7)bile ductular proliferation(6/7), severe portal and periportal inflammation(6/7)with mild necrosis in 2 patients; steatosis affecting less than 20% of hepatic parenchymal (2/7). Histologic cholestasis was not observed. Beside well known liver abnormalities, hepatic phospholipidosis is first described during TPN in infants. The mechanism of this phospholipids accumulation is unknown. It could be due to the alteration of phospholipids metabolism and/or to the interaction with TPN solution components even in the absence of fat emulsion administration.