Association of paediatric autoimmune cytopenia and inflammatory bowel disease suggests a common genetic origin.

The association of autoimmune cytopenia (AIC) and inflammatory bowel disease (IBD) has been reported in small series, but the incidence of and risk factors for IBD in children with AIC are not known. One thousand six hundred nine children with chronic immune thrombocytopenic purpura, autoimmune haemolytic anaemia or Evans syndrome from the prospective OBS'CEREVANCE cohort are included in this study. Overall, 15 children were diagnosed with IBD, including 14 who developed IBD after AIC diagnosis (median delay: 21 months). The only risk factor for IBD development is age at AIC over 10 years. Out of 10 children genetically tested, germline variants associated with autoimmune disorders were identified in three (CTLA4: two, DOCK11: one). In children and adolescents monitored for AIC or past history of AIC, especially children over 10 years, gastro-intestinal (GI) symptoms (recurrent abdominal pains, GI bleeding, chronic diarrhoea, weight loss) should suggest IBD and deserve specific work-up and genetic studies. Identification of a causal germline variant will allow targeted therapy.

[Congenital transient leukemia: a case report]. / Un cas de leucémie congénitale transitoire.

UNLABELLED: Neonates with Down's syndrome have an increased risk for congenital leukaemia, particularly acute megakaryoblastic leukaemia (FAB, M7) which most often resolves spontaneously and is called transient leukaemia. It can be observed in non-constitutional trisomy 21 infants then presenting trisomy 21 on blasts cells. OBSERVATION: We report a transient leukaemia with an isolated pericardial effusion in a phenotypically normal neonate. Trisomy 21 was found on blasts cells. Complete remission remains after 32 months. DISCUSSION: Congenital leukaemias, with trisomy 21 on blasts cells have a good prognosis that justifies observation before using chemotherapy.

[Parents' recollection of the initial announcement of hemophilia in children]. / Vécu parental de l'annonce du diagnostic d'hémophilie chez l'enfant.

UNLABELLED: Discovering chronic illnesses in children initially shatters the family balance and triggers emotional reactions. PATIENTS AND METHODS: We retrospectively report parents' experiences and emotional reactions to learning the diagnosis of hemophilia in their children. Twenty-six parents (18 mothers, 8 fathers) of 24 hemophiliac A or B children (major n=8, moderate n=6, mild n=10), aged from 0 to 18 years, were individually asked to answer a separate questionnaire for each child during a systematic consultation. We obtained 29 completed questionnaires. RESULTS: The diagnostic circumstances were a major bleeding episode (n=8), frequent hematomas (n=4), preoperative blood sample (n=4), and familial screening (n=8). In 9 cases, both parents were informed of the diagnosis at the same time and in 13 cases, the mother was alone. The most frequent feelings were future apprehension (n=20), initial shock reaction (n=18), anxiety (n=12), and guilt (n=10) expressed by mothers only. Parents' emotional states were neither correlated with the severity of the disease nor with the diagnostic circumstances. All parents questioned reported being satisfied with the quality of the initial information. CONCLUSION: The crisis generated by learning the diagnosis of a chronic disease in their children warrants delivering initial information to both parents at the same time, especially in hemophilia since mothers tend to be more concerned.

Successful immune tolerance induction by FVIII in hemophilia A patients with inhibitor may occur without deletion of FVIII-specific T cells.

BACKGROUND: The development of an inhibitor is the major complication facing patients with hemophilia A treated by administration of factor (F) VIII concentrates. Restoration of tolerance to FVIII can be achieved by prolonged administration of FVIII (immune tolerance induction, ITI). Although ITI has been used for more than 30years in patients with hemophilia A and inhibitor, its mechanism of action is still poorly understood. OBJECTIVES: As administration of high doses of antigen can induce the apoptosis of the T cells recognizing the antigen, a potential mechanism of action of ITI may be the deletion of FVIII-specific T cells. PATIENTS/METHODS: We studied the CD4+ T-cell response to FVIII in five (one mild, one moderate and three severe) patients successfully desensitized by administration of FVIII and in control subjects. RESULTS: Following repeated stimulation with autologous dendritic cells loaded with FVIII, FVIII-specific T oligoclonal cell lines were expanded from the blood of one of the successfully desensitized patients. The FVIII-specific T cells produced IL-5, IL-13 and IL-2. By contrast, FVIII-specific T-cell lines could not be derived from three patients with mild hemophilia A without inhibitor or from four normal control subjects. CONCLUSIONS: These data represent the first analysis of the cellular mechanisms regulating the induction of tolerance to FVIII. They demonstrate that successful tolerance induction may occur without deletion of FVIII-specific T cells.

[Case control study of extended-spectrum betalactamase producing Serratia marcescens outbreak in a paediatric intensive care unit]. / Etude cas-témoins d'une épidémie à Serratia marcescens dans un service de réanimation pédiatrique.

OBJECTIVES: To identify patient-related risk factors of infection and ways of transmission of extended-spectrum betalactamase (ESBL) producing Serratia marcescens in the paediatric intensive care unit (PICU) of Amiens university hospital (France) between June and July 2002. METHODS: Five cases (four pulmonary infected and one stool contaminated symptom-free neonates) and 35 controls, admitted in the PICU, are included. S. marcescens ESBL analysed are isolated from respiratory tract and faecal samples for cases and urine and pus samples from two non-paediatric other patients. Univariate and multivariate analysis are performed on EPI INFO 6.04 dFr and SPSS 11.0.1. RESULTS: S. marcescens ESBL infections or colonisations rate is 12.5% [4.7-27.6]. The incidence is 8.8 [6.7-11.6] per 1000 hospital-stay days. By univariate analysis, cases and controls don't differ with respect of age, sex, and weight at admission or preterm delivery. Cases don't have more often invasive nursing care than controls. But, they were intubated (P <0.03) and hospitalised (P <0.03) for a longer time than controls. Linear regression analysis showed that duration of intubation was independent predictor of acquisition of S. marcescens ESBL (P <0.008). S. marcescens ESBL strains implicated in pulmonary infections, showed the same pattern of multidrug resistant and ERIC-PCR profile. This clone differs from others isolated from stool or other samples from other hospital wards. CONCLUSION: As S. marcescens cross-colonization appears to be due to lake of hand hygiene and asepsis during invasive nursing care, reinforcing hygiene measures permit to contain the outbreak.