Objective assessment of induced acute pain in neonatology with the Newborn Infant Parasympathetic Evaluation index.

BACKGROUND: Objective tools are needed to improve pain assessment in newborns. The aim of this study was to assess the correlation between the Newborn Infant Parasympathetic Evaluation (NIPE) index and two pain scales during a painful procedure in premature infants. METHOD: Each baby born at least at 26 weeks of gestational age (GA) undergoing a planned painful procedure in the Neonatal Intensive Care Unit (NICU) was eligible. NIPE index, heart rate variability (HRV) indices and Neonatal Acute Pain scale (DAN) were recorded across three periods: the first at rest 5 min before the painful procedure (T1), the second during it (T2) and the third 3 min after the end of it (T3). The Premature Infant Pain Profile-Revised (PIPP-R) pain scale was recorded at T2. RESULTS: Sixty-four recordings were performed in 29 preterm infants (mean GA = 29.9 ± 4.2 weeks). Twenty-eight tachograms were coupled to NIPE for analysis. We did not find a correlation between the NIPE index and DAN and PIPP-R at the pain time T2. Between T1 and T2, heart rate was higher (159 ± 16 vs. 169 ± 12, p < 0.001). Considering the linear HRV indices, we did not observe a modification in parasympathetic or sympathetic activity, while for the nonlinear HRV indices (H exponent, Approximate and conditional Entropy), a significant change towards a loss of physiological chaotic cardiac behaviour was detected. CONCLUSIONS: The NIPE index seems to be not reliable to assess acute pain in the preterm infant, but other HRV indices could be explored as additional tools next to pain scales in NICUs. SIGNIFICANCE: The NIPE monitor was developed for objective pain assessment in neonates based on HFnu variations, but it does not seem reliable enough for assessing acute pain in real time in preterm neonates. Pain assessment in preterm babies still relies on pain scales.

[The complex phenotype of ARC syndrome: A new case]. / Le phénotype complexe du syndrome ARC : une nouvelle observation.

ARC syndrome (arthrogryposis - renal dysfunction - cholestasis) is a rare lethal multisystemic autosomal recessive disease. A newborn of consanguineous parents of Algerian descent presented cholestatic jaundice, dehydration, and Fanconi syndrome at 10 days of life. The blood smear showed a very characteristic gray appearance of platelets. A homozygous mutation was evidenced in the VPS33B gene. This gene codes for a protein involved in trafficking of intracellular vesicles. The mutation (c.604-2A>G) present in the heterozygous state in the parents affects an invariant base of the splice acceptor site and to our knowledge has not been reported yet. This child died at the age of 3 months. Prenatal diagnosis was offered to the family; another pregnancy was carried to completion and a girl was born without the disease. The combination of cholestasis and proximal tubulopathy should suggest the diagnosis in a newborn with orthopedic problems. A blood smear greatly facilitates diagnosis.

[Adenosine deaminase 1 deficiency, an inborn error of metabolism underlying a severe form of combined immunodeficiency]. / Déficit complet en adénosine-désaminase-1 : une erreur innée du métabolisme responsable d'un déficit immunitaire combiné sévère.

Severe combined immune deficiencies (SCIDs) are a heterogeneous group of severe cellular immunodeficiencies. Early diagnosis is essential to allow adapted care before life-threatening systemic infections or complications associated with live vaccines. Adenosine deaminase 1 deficiency (ADA1) is an inborn error of metabolism leading to severe lymphopenia and characteristic bone lesions. Herein, we present the typical case of a child in whom ADA SCID was diagnosed at 2 months of life, revealed by lung involvement and extreme lymphopenia. Immune restoration in terms of peripheral lymphocyte count with enzyme replacement therapy, namely pegylated bovine ADA, is satisfactory so far. The search for a compatible donor is underway. Correcting the genetic defect by gene transfer is also being considered. The phenotype of this very rare condition is described. A severe peripheral lymphopenia in a young child is a finding of utmost importance for the diagnosis of a primary cellular immunodeficiency.

[The challenge for dermatologists of early APECED diagnosis]. / Diagnostic précoce du syndrome APECED : un défi pour le dermatologue.

BACKGROUND: Polyglandular auto-immune syndrome type 1 (PAS-1) or auto-immune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive disorder linked to auto-immune regulator (AIRE) gene mutations. Herein, we report the case of a 3-year-old boy with APECED emphasizing the wide phenotypic variability and the extent of skin lesions. PATIENTS AND METHODS: A 3-year-old boy with a history of auto-immune hepatitis was referred for a generalized pruriginous urticaria-like eruption present for one month. He was born to non-consanguineous parents. Cutaneous examination revealed twenty-nail dystrophy, which had been present since the age of 2 years. Both direct microscopy and culture of nail samples were negative for Candida albicans. Esophagogastroduodenoscopy revealed esophageal candidiasis. A diagnosis of APECED was suspected and subsequently confirmed by molecular analysis of the AIRE gene, which showed two mutations. No other auto-immune endocrinopathies were found. DISCUSSION: Our case report illustrates the phenotypic variability of APECED with the absence of typical manifestations such as Addison's disease and hypoparathyroidism. APECED should thus be systematically suspected in young children presenting with cutaneous lesions associated with mucocutaneous candidiasis or auto-immune disease, even in the absence of known endocrinopathies. CONCLUSION: Dermatologists should be aware of this association since early diagnosis of APECED is critical in preventing life-threatening endocrinological crises.

[Prospective epidemiological study of rotavirus gastroenteritis in Europe (REVEAL study). Results in the French area of the study]. / Etude épidémiologique prospective de la gastroentérite à rotavirus en Europe (étude REVEAL). Résultats de la zone d'étude française.

PRIMARY OBJECTIVE: To estimate the incidence of acute gastroenteritis (AGE) and rotavirus acute gastroenteritis (RVAGE) in children less than 5 years of age seeking medical care in primary care, emergency department, and hospital settings. SECONDARY OBJECTIVES: To compare the clinical profile of RVAGE and non-RVAGE and to describe the distribution of RV serotypes among RVAGE cases. METHODS: A prospective primary care, emergency ward and hospital-based observational study was conducted during 1 year in a selected city of France with 250,000 inhabitants. Children less than 5 years of age presenting with symptoms of AGE were included. Rotavirus was identified using an Elisa test in stools. RESULTS: The estimated annual incidence of RVAGE was 1.56% for AGE and 0.87% for RVAGE in hospital, 5.87% for AGE and 2.65% for RVAGE in emergency-wards, 7.39% for AGE and 1.45% for RVAGE in primary care. Total incidence was 14.82% for AGE and 4.96% for RVAGE among children less than 5 years of age. RVAGE were more clinically severe than the AGE: dehydration (26.8% vs. 14.7%, p<0.0001), vomiting 84.9% vs. 60.9%, p<0.0001), fever (74.3% vs. 44.4%, p<0.0001), lethargy (84.9% vs. 70.2%, p<0.0001). G9 serotype was the most frequent serotype encountered (54.7%) during the study period followed by G3 serotype (33.6%) and G2 serotype (7.9%). CONCLUSION: In this study, RVAGE, caused by serotypes G9 and G3, represented about 1/3 of AGE and were more severe than non-RV AGE with twice as high dehydration rate. These results underline the need for continued promotion on the use of oral rehydration fluids and provide some arguments on the benefits of vaccination against rotavirus and also permanent virological monitoring of circulating serotypes.