Varicella post-exposure management for pediatric oncology patients.

Introduction: The objective was to evaluate health care providers' (HCP) adherence to and efficacy of varicella post-exposure prophylaxis (PEP) recommendations. It was an observational, prospective, multicenter study set in Ile-de-France, France.

Methods: All children under 18 with a cancer diagnosis, currently or within 3months of receiving cancer treatment, regardless of varicella zoster virus (VZV) serostatus or previous personal history of varicella, were eligible.

French "real life" experience of clofarabine in children with refractory or relapsed acute lymphoblastic leukaemia.

Background: Clofarabine alone or in combination with cyclophosphamide and etoposide has shown a good efficacy and a tolerable toxicity profile in previous studies of children with relapsed or refractory leukaemia. This report describes a retrospective study of 38 French patients who received clofarabine as a monotherapy or in combination for relapsed or refractory acute lymphoblastic leukaemia (ALL) outside of clinical trials after marketing authorization.

Methods: We retrospectively analysed data for 38 patients, up to 21 years old, attending 17 French centres.

Terminal 14q32.33 deletion: genotype-phenotype correlation.

We report on a female infant presenting with psychomotor retardation and facial dysmorphism. Cytogenetic studies showed an abnormal chromosome 14 with ectopic NOR sequences at the extremity of the long arm with a terminal 14q32.33 deletion.

[Factors predicting serious bacterial infections in febrile infants less than three months old: multivariate analysis].

Aim: To identify predictive factors of the presence of a serious bacterial infection (SBI) in febrile infants less than three months old.

Methods: Retrospective analysis of the medical files of 315 consecutive consultations of febrile infants less than three months old in the pediatric emergency department of a French hospital, with logistic regression multivariate analysis of the different criteria routinely considered and C-reactive protein (CRP).

Results: SBI were diagnosed in 79 (25.

Allelic heterogeneity of glycogen storage disease type Ib in French patients: a study of 11 cases.

Eleven patients with glycogen storage disease type Ib (GSD Ib) were studied. Using a combination of single-strand conformation polymorphism (SSCP) analysis, restriction enzyme digestion and direct sequencing, we were able to identify 21/22 mutant alleles comprising 12 different mutations in the glucose-6-phosphate translocase gene (G6PT). Among these, one is a novel mutation of G6PT: 855T>C (L229P).

[Rotavirus nosocomial infection in pediatric units. A multicentric observation study].

Objective: Rotavirus nosocomial infection (RNI) is frequent in pediatric units. This study was designed to determine the incidence and the main risk factors of RNI in children aged 3 months-3 years and admitted for at least 48 hours days during the epidemic period.

Patients And Methods: A stool sample was obtained within the 24 hours of admission.

Gouty tendinitis revealing glycogen storage disease Type Ia in two adolescents.

Hyperuricemia is a well-known consequence of glucose-6-phosphatase (G6Pase) deficiency, the enzymatic abnormality that characterizes glycogen storage disease (GSD) Type Ia. However, acute gout as the presenting manifestation of GSD Type Ia has been reported in only a few patients. We report a new case in a 17-year-old male evaluated for acute gouty tendinitis in the right Achilles tendon.

Prenatal diagnosis of Crigler-Najjar syndrome type I by single-strand conformation polymorphism (SSCP).

Crigler-Najjar syndrome type I (CN-I) is a rare and severe inherited disorder of bilirubin metabolism, caused by the total deficiency of bilirubin-UDP-glucuronosyltransferase (UGT) activity. Enzymatic diagnosis cannot be performed in chorionic villi or amniocytes as UGT is not active in these tissues. The cloning of the UGT1 gene and the identification of disease-causing mutations have led to the possibility of performing DNA-based diagnosis.

Is a polymorphism of the apolipoprotein E gene associated with preeclampsia?

Objective: Apolipoprotein E (apo E) is pivotal in lipid metabolism. In women with preeclampsia, an atherogenic state is observed. We hypothesized that a particular genotype of apo E may be associated with preeclampsia.

Genetic heterogeneity of glycogen storage disease type Ia in France: a study of 48 patients.

Forty-eight patients with glycogen storage disease type Ia (GSD Ia) were studied. Using a combination of single-strand conformation polymorphism (SSCP) analysis, restriction enzyme digestion and direct sequencing, we were able to identify 93/96 mutant alleles, comprising 23 different mutations in the glucose-6-phosphatase gene (G6PC). Among these, 7 are novel mutations of G6PC: M5R, T111I, A241T, C270R, F322L, and two deletions, 793delG and 872delC, resulting in the same mutation at the amino acid level, fs300Ter (300X).

Apolipoprotein E polymorphism and serum concentrations in patients with glycogen storage disease type Ia.

In patients with glycogen storage disease type Ia (glucose-6-phosphatase deficiency), serum triglyceride concentrations are markedly raised, whereas phospholipids and cholesterol levels are only moderately elevated. In addition, both VLDL and LDL lipoprotein fractions are raised. Despite these abnormalities, endothelial vascular dysfunction and atherosclerosis seem to be rare in such patients.

Jeune syndrome and liver disease: report of three cases treated with ursodeoxycholic acid.

Three children with Jeune syndrome (asphyxiating thoracic dystrophy) had clinical and laboratory evidence of liver disease. In two patients the disease evolved to biliary cirrhosis, whereas in the third it was recognized when extensive fibrosis was developing. In the three patients, treatment with ursodeoxycholic acid appeared to control the progression of the hepatic dysfunction.

Implication of apolipoprotein E and the L-arginine-nitric oxide system in preeclampsia.

Objective: During pregnancy, Apolipoprotein (Apo) E is synthesized in the placenta to facilitate the uptake of maternal lipoproteins. Preeclampsia is associated with an abnormal lipid profile. Apo E levels may affect the production of nitric oxide.

Jaundice with hypertrophic pyloric stenosis as an early manifestation of Gilbert syndrome.

Jaundice associated with hypertrophic pyloric stenosis was recognised in three patients; previous reports have suggested that this is a possible early manifestation of Gilbert syndrome. Most patients with Gilbert syndrome are homozygous for a (TA)(7)TAA polymorphism in the gene promoter coding for bilirubin glucuronosyltransferase. Two of the reported patients were homozygous for the (TA)(7)TAA polymorphism whereas the third was heterozygous for the same polymorphism.

Haemolytic uraemic syndrome and pulmonary hypertension in a patient with methionine synthase deficiency.

An 18-month-old girl presented with macrocytic megaloblastic anaemia followed by haemolytic uraemic syndrome. Metabolic investigations led to the identification of an inborn error of cobalamin metabolism consisting of defective methylcobalamin biosynthesis, probably cobalamin G, since methionine synthase activity was decreased under standard reducing conditions. Despite treatment, pulmonary hypertension progressively developed and responded to oxygen therapy.

Identification of three novel mutations (Q54P, W70X and T108I) in the glucose-6-phosphatase gene of patients with glycogen storage disease type Ia. Mutation in brief no. 256. Online.

Three novel mutations, Q54P, W70X and T1081, were identified in the gene encoding glucose-6-phosphatase in three patients with glycogen storage disease type Ia. Two sibs of Portuguese origin were homozygous for the Q54P mutation whereas the third patient, originating from both France and Lebanon, was a compound heterozygote for the W70X and T108I mutations. Glycogen storage disease type Ia is a heterogeneous autosomal recessive condition.

Prenatal diagnosis of glycogen storage disease type Ia by restriction enzyme digestion.

Glycogen storage disease type Ia (GSD Ia) is an autosomal recessive condition, caused by a deficiency of hepatic glucose-6-phosphatase (G6Pase) activity. In a consanguineous family originating from northern Africa whose first daughter was affected with GSD Ia, we were able to identify the disease-causing mutation, a cytosine to thymine substitution at nucleotide 326 in exon 2 of the G6Pase gene (R83C). This mutation causes the disappearance of an HgaI site, and is thus easily detectable by restriction enzyme digestion.

Severe brain and limb defects with possible autosomal recessive inheritance: a series of six cases and review of the literature.

Six fetuses with normal chromosomes were found to have severe craniofacial, limb, and visceral malformations during the second trimester of pregnancy. Two of these fetuses were monozygotic twins while a third one had a healthy dizygotic twin brother. A case with familial recurrence was also observed.

Moyamoya disease in a child with glycogen storage disease type Ia.

A three-year-old child affected by glycogen storage disease (GSD) type Ia presented with acute hemiplegia secondary to Moyamoya disease. So far, the association of moyamoya with GSD Ia had only been reported twice. The rarity of both conditions makes their association unlikely to be a chance event and an etiological relationship between them must be considered.