[How I treat : airway obstruction in children with sequence of Pierre Robin]. / Comment je traite l'obstruction respiratoire chez l'enfant atteint d'une séquence de Pierre Robin.

Pierre Robin sequence (PRS) is described as a triad of micrognathia, glossoptosis and cleft palate. This sequence may be isolated or associated with a genetic syndrome in half of the cases. Main complications affect respiratory function and the upper digestive tract. Respiratory obstruction can arise as soon as in the first hours of life and may be life-threatening if no early appropriate management is implemented. PRS is phenotypically variable and the required treatment varies accordingly: some patients will be relieved with prone positioning alone while others will benefit from nasopharyngeal tube, CPAP ("Continuous Positive Airway Pressure") or rarely surgery. In this article, we describe a clinical case and then discuss the available therapeutic strategies.

La séquence de Pierre Robin associe un rétrognatisme, une glossoptose et une fente palatine. Elle est isolée ou liée à un syndrome génétique dans la moitié des cas. Les complications sont principalement respiratoires et digestives. L'obstruction respiratoire peut se manifester dès les premières heures de vie et altérer la vie de l'enfant en l'absence d'une prise en charge précoce. Le degré de sévérité peut varier d'un enfant à l'autre et, alors que certains patients seront soulagés avec une position ventrale, d'autres nécessiteront un tube naso-pharyngé, une ventilation en pression positive continue (CPAP) ou, plus rarement, une intervention chirurgicale. Dans cet article, nous décrivons un cas clinique, puis nous rediscutons de l'ensemble des possibilités thérapeutiques.

In antibody-positive first-degree relatives of patients with type 1 diabetes, HLA-A*24 and HLA-B*18, but not HLA-B*39, are predictors of impending diabetes with distinct HLA-DQ interactions.

AIMS/HYPOTHESIS: Secondary type 1 diabetes prevention trials require selection of participants with impending diabetes. HLA-A and -B alleles have been reported to promote disease progression. We investigated whether typing for HLA-B*18 and -B*39 may complement screening for HLA-DQ8, -DQ2 and -A*24 and autoantibodies (Abs) against islet antigen-2 (IA-2) and zinc transporter 8 (ZnT8) for predicting rapid progression to hyperglycaemia. METHODS: A registry-based group of 288 persistently autoantibody-positive (Ab(+)) offspring/siblings (aged 0-39 years) of known patients (Ab(+) against insulin, GAD, IA-2 and/or ZnT8) were typed for HLA-DQ, -A and -B and monitored from the first Ab(+) sample for development of diabetes within 5 years. RESULTS: Unlike HLA-B*39, HLA-B*18 was associated with accelerated disease progression, but only in HLA-DQ2 carriers (p < 0.006). In contrast, HLA-A*24 promoted progression preferentially in the presence of HLA-DQ8 (p < 0.002). In HLA-DQ2- and/or HLA-DQ8-positive relatives (n = 246), HLA-B*18 predicted impending diabetes (p = 0.015) in addition to HLA-A*24, HLA-DQ2/DQ8 and positivity for IA-2A or ZnT8A (p ≤ 0.004). HLA-B*18 interacted significantly with HLA-DQ2/DQ8 and HLA-A*24 in the presence of IA-2 and/or ZnT8 autoantibodies (p ≤ 0.009). Additional testing for HLA-B*18 and -A*24 significantly improved screening sensitivity for rapid progressors, from 38% to 53%, among relatives at high Ab-inferred risk carrying at least one genetic risk factor. Screening for HLA-B*18 increased sensitivity for progressors, from 17% to 28%, among individuals carrying ≥ 3 risk markers conferring >85% 5 year risk. CONCLUSIONS/INTERPRETATION: These results reinforce the importance of HLA class I alleles in disease progression and quantify their added value for preparing prevention trials.

Branchial arch anomalies in trisomy 18.

The authors report two newborns and one fetus with trisomy 18, who have severe anomalies of the first branchial arch: extreme microtia with imperforate external meatus in two cases, and hemifacial microsomia in a third one. Those cases point to the huge phenotypic variability of the trisomy 18.

[Dumping syndrome: a case after Nissen's operation]. / Le dumping syndrome: observation d'un cas après intervention de Nissen.

We report on a case of dumping syndrome 1 month after Nissen fundoplication in a 5 month-old infant presenting with symptoms of late hypoglycemia. Blood glucose levels in pre- and post-prandial periods, oral glucose tolerance test and isotopic gastric emptying study confirmed the diagnosis. All symptoms resolved with diet therapy which could be stopped 8 months later. Dumping syndrome is not a so rare complication of gastric surgery and should be considered in patients with non specific symptoms.