[Dystonia 12: A rare and difficult diagnosis]. / Dystonie de type 12 : un diagnostic rare et difficile.

We report a case of dystonia 12, also called rapid-onset dystonia-parkinsonism, which occurred in a young 12-year-old boy. Type 12 dystonia is a genetic syndrome characterized by a pathogenic mutation on ATP1A3 gene encoding the subunit alpha 3 of Na-K-ATPase protein, resulting in neuronal dysfunctions. It remains a rare syndrome with less than 100 cases described in the literature. Its atypical presentation and its rarity may lead to a wandering diagnosis, even in some cases to a conversion hysteria diagnosis. Today, unfortunately, there is no effective treatment.

Identification of biomarkers to detect residual pertussis toxin using microarray analysis of dendritic cells.

In this study we aimed to identify genes that are responsive to pertussis toxin (PTx) and might eventually be used as biological markers in a testing strategy to detect residual PTx in vaccines. By microarray analysis we screened six human cell types (bronchial epithelial cell line BEAS-2B, fetal lung fibroblast cell line MRC-5, primary cardiac microvascular endothelial cells, primary pulmonary artery smooth muscle cells, hybrid cell line EA.Hy926 of umbilical vein endothelial cells and epithelial cell line A549 and immature monocyte-derived dendritic cells) for differential gene expression induced by PTx. Immature monocyte-derived dendritic cells (iMoDCs) were the only cells in which PTx induced significant differential expression of genes. Results were confirmed using different donors and further extended by showing specificity for PTx in comparison to Escherichia coli lipopolysaccharide (LPS) and Bordetella pertussis lipo-oligosaccharide (LOS). Statistical analysis indicated 6 genes, namely IFNG, IL2, XCL1, CD69, CSF2 and CXCL10, as significantly upregulated by PTx which was also demonstrated at the protein level for genes encoding secreted proteins. IL-2 and IFN-γ gave the strongest response. The minimal PTx concentrations that induced production of IL-2 and IFN-γ in iMoDCs were 12.5 and 25IU/ml, respectively. High concentrations of LPS slightly induced IFN-γ but not IL-2, while LOS and detoxified pertussis toxin did not induce production of either cytokine. In conclusion, using microarray analysis we evaluated six human cell lines/types for their responsiveness to PTx and found 6 PTx-responsive genes in iMoDCs of which IL2 is the most promising candidate to be used as a biomarker for the detection of residual PTx.

Plasma apolipoprotein AV levels in mice are positively associated with plasma triglyceride levels.

Apolipoprotein AV (apoAV) overexpression causes a decrease in plasma triglyceride (TG) levels, while deficiency of apoAV causes hypertriglyceridemia in both men and mice. However, contrary to what would be expected, plasma apoAV and TG levels in humans are positively correlated. To address this apparent paradox, we determined plasma apoAV levels in various mouse models with median TG levels ranging from 30 mg/dl in wild-type mice to 2089 mg/dl in glycosylphosphatidylinositol-anchored HDL binding protein 1-deficient mice. The data show that apoAV and TG levels are positively correlated in mice (r = +0.798, P < 0.001). In addition, we show that LPL gene transfer caused a simultaneous decrease in TG and apoAV in LPL-deficient mice. The combined data suggest that apoAV levels follow TG levels due to an intimate link between the apoAV molecule and TG-rich lipoproteins, comprising both secretion and removal of these lipoproteins. Taken together, the data suggest that higher plasma apoAV levels reflect an increased demand for plasma TG hydrolysis under normal physiological conditions.

[Clinical case of the month. Nutcracker syndrome in association with a painful nephrologic disease]. / Le cas clinique du mois. L'anatomie au secours des cliniciens face à une douleur répétitive abdominale: le syndrome de la pince aorto-mésentérique.

Compression of the left renal vein between the aorta and the superior mesenteric artery causes a physiological condition, the so-called nutcracker phenomenon, but it can sometimes lead to left venous hypertension, or "nutcracker syndrome". Classical manifestations of which are an association of left flank pain, unilateral proteinuria and unilateral hematuria, without renal impairment. We report an atypical association of nutcracker syndrome with IgM nephropathy.

[Clinical case of the month. Fatal pertussis infection in a 2 month old infant]. / Le cas clinique du mois. Coqueluche fatale chez un nourrisson de deux mois.

The incidence of B pertussis has increased by 50% from the 1980s to the 1990s, primarily among those aged 4 months and younger. Worldwide, pertussis is a significant cause of infectious mortality with 40 million cases and 400.000 deaths. Most of these cases and deaths occur in infancy. Symptoms vary from common cold in adults to respiratory distress in infants. Non immune babies with respiratory disease and significant lymphocytosis should be considered to have pertussis until proven otherwise. The onset of severe pulmonary hypertension during B pertussis pneumonia is frequenly rapid and relentless. Exchange-transfusion can be life-saving by reducing the leucocyte mass. Classic vaccination or boosters given to adults and adolescents would reduce the spread from parents tho infants, but a new vaccination schedule is under investigation at Vanderbilt Children's Hospital to give baby's first pertussis vaccination at birth?

[Hydrocephalus in children]. / Hydrocéphalie chez l'enfant: étiologies--traitements--résultats.

The files of all young patients, aged from one day to 17 years, that were operated for hydrocephalus in the Service of Neurosurgery of the Citadelle Hospital from 1987 to 2003 were reviewed and analysed. Over these 16 years of practice, a shunt was placed in a total of 194 children. This paper is mainly concerned with the etiologies of hydrocephalus and the complications related to the surgical procedure.

Ligation of the uterine artery and early postnatal food restriction - animal models for growth retardation.

Intrauterine growth restriction (IUGR) is one of the major causes of short stature in child- and adulthood. The cause of IUGR is unknown, however, an impaired uteroplacental function during the second half of human pregnancy might be an important factor, by affecting the programming of somatotropic axis and leading to postnatal growth failure into adulthood. Two rat models with perinatally induced growth retardation were used to examine the long-term effects of perinatal insults on growth. IUGR rats were prepared from pregnant dams, with a bilateral uterine artery ligation at day 17 of their pregnancy. Since the rat is relatively immature at birth, an early postnatal food restriction model was included as another model to broaden the time window of sensitive period of organogenesis. An individual growth curve was calculated of each animal (n = 813). From these individual growth curves the predicted growth curve for each experimental group was calculated by multilevel analysis. The proposed mathematical model allows us to estimate the growth potentials of these rat models with precision and could provide basic information to investigate the relationships among a number of other variables in future studies. Furthermore, we concluded that both pre- and early postnatal malnutrition leads to irreversible slowing down of postnatal growth.

[Mixed connective tissue disease in childhood: report of two clinical cases]. / Les connectivites mixtes chez l'enfant: illustration par deux cas cliniques.

Sharp's syndrome, or mixed connective tissue disease, is an autoimmune chronic disease characterized by a tissue collagen abnormality. It is more common among young women, but is also described in children. The symptomatology may be different from one case to another as shown in the two presented cases. Signs and symptoms of other rheumatic diseases are commonly observed. The presence of anti-RNP antibody is requested to confirm the diagnosis. The treatment is adapted to each individual. Non-steroidal anti-inflammatory drugs, corticosteroids, and immunosuppressive drugs are the basis of treatment.