Flemish Normative Data for the Buschke Selective Reminding Test.

The purpose of this study was to provide normative data for a Flemish version of the Buschke Selective Reminding Test (SRT). The SRT allows for the simultaneous analysis of several components of verbal memory, such as short and long term retrieval. The Flemish SRT was administered to 3257 neurologically healthy adults (1627 men and 1630 women, age range = 18-94 years). Effects of age, sex and education on SRT performance were assessed. Results indicate that SRT performance decreased with age and that this decline accelerated in men compared to women. Furthermore, an effect of education was found favoring participants who completed a higher education. Normative data quantified through percentile ranks and stratified by age, sex and education level are provided.

The effect of ventilation rate on outcome in adults receiving cardiopulmonary resuscitation.

AIM: To investigate whether a ventilation rate ≤10 breaths min-1 in adult cardiac arrest patients treated with tracheal intubation and chest compressions in a prehospital setting is associated with improved Return of Spontaneous Circulation (ROSC), survival to hospital discharge and one-year survival with favourable neurological outcome, compared to a ventilation rate >10 breaths min-1. METHODS: In this retrospective study, prospectively acquired data were analysed. Ventilation rates were measured with end-tidal CO2 and ventilation pressures. Analyses were corrected for age, sex, compression rate, compression depth, initial heart rhythm and cause of cardiac arrest. RESULTS: 337 of 652 patients met the inclusion criteria. Hyperventilation was common, with 85% of the patients ventilated >10 breaths min-1. The mean ventilation rate was 15.3 breaths min-1. The corrected odds ratio (OR) of ventilating >10 breaths min-1 for achieving ROSC was 0.91 (95% CI: 0.49 - 1.71, p = 0.78), the uncorrected OR of ventilating >10 breaths min-1 for survival to hospital discharge was 0.91 (95% CI: 0.30 - 2.77, p = 0.78), and the uncorrected OR of ventilating >10 breaths min1 for one-year survival with a favourable neurological outcome was 0.59 (95% CI: 0.19 - 1.87, p = 0.32). A logistic regression with continuous ventilation rate showed no significant relation with ROSC, and a ROC curve for ROSC showed a poor predictive performance (AUC: 0.52, 95% CI: 0.46 - 0.58), suggesting no other adequate cut-off value for ventilation rate. CONCLUSION: A ventilation rate ≤10 breaths min-1 was not associated with significantly improved outcomes compared to a ventilation rate >10 breaths min-1. No other adequate cut-off value could be proposed.

[Palmoplantar neutrophilic eccrine hidradenitis with general extension in a child in remission after acute lymphoblastic leukemia]. / Hidradénite eccrine neutrophilique palmo-plantaire avec extension généralisée chez un enfant en rémission d'une leucémie aiguë lymphoblastique.

BACKGROUND: Neutrophilic eccrine hidradenitis (NEH) is a form of neutrophilic dermatitis characterized by tender erythematous and painful papules involving the trunk, extremities and face. The generalized form is associated with malignant hemopathies. The palmoplantar form occurs in children without any context of malignancy. Histology shows a neutrophilic infiltrate surrounding and infiltrating the eccrine glands associated with vacuolar degeneration and necrosis of the epithelial secretory portion. PATIENTS AND METHODS: We report the case of a 4-year-old girl with palmoplantar HEN progressing to the generalized form while in remission from acute lymphoblastic leukemia. DISCUSSION: Progression of HEN from the palmoplantar form to the generalized form has never been published previously in the literature.

[Respiratory complications of sickle cell anemia in children: the acute chest syndrome]. / Les complications respiratoires de la drépanocytose chez les enfants: le syndrome thoracique aigu.

The acute chest syndrome (ACS) is one of the most frequent complications of sickle cell disease. It affects mostly young children and counts for one quarter of mortality in the young sickle cell disease (SCD) population. This retrospective study evaluates the impact of ACS among hospitalizations for other complications of SCD in patients at the University Childrens' Hospital Reine Fabiola (Brussels, Belgium) in order to isolate clinical conditions associated with a high risk of ACS development. The medical records of all SCD patients aged up to 18 years admitted for all SCD related acute complications over a period of 13 month have been reviewed. Two patient groups have been formed based on the presence of an ACS within the study period. Epidemiologic data, medical history, the clinical presentation at admission but also blood counts in steady state, at admission and along the hospital stay were compared for a total of 96 hospital stays. There is no difference for age or hemoglobin phenotype between the two major patient groups. Male sex and having had a previous ACS episode in the past were significantly more important in the group of patients hospitalized for ACS. Thoracic pain in an SCD patient who doesn't show typical ACS symptoms should be interpreted as a risk factor for ACS. In conclusion, male sex, medical history of at least one ACS and thoracic pain at hospital admission are associated with high risk of developing ACS.

Deficiency of Subunit 6 of the Conserved Oligomeric Golgi Complex (COG6-CDG): Second Patient, Different Phenotype.

We describe a 27-month-old girl with COG6 deficiency. She is the first child of healthy consanguineous Moroccan parents. She presented at birth with dysmorphic features including microcephaly, post-axial polydactyly, broad palpebral fissures, retrognathia, and anal anteposition. The clinical phenotype was further characterised by multiorgan involvement including mild psychomotor retardation, and microcephaly, chronic inflammatory bowel disease, micronodular liver cirrhosis, associated with life-threatening and recurrent infections due to combined T- and B-cell dysfunction and neutrophil dysfunction.Mutation analysis showed the patient to be homozygous for the c.G1646T mutation in the COG6 gene. She is the second reported patient with a deficiency of subunit 6 of the COG complex. Although both patients are homozygous for the same mutation, they present a markedly different clinical picture. Indeed immunodeficiency as well as inflammatory bowel disease has not been described previously in patients with any COG-CDG.

Tolosa-Hunt syndrome in children.

We report a case of Tolosa-Hunt syndrome in a 4-year-old girl. Computed Tomography (CT) and Magnetic Resonance Imaging (MRI) revealed a left cavernous sinus involvement with internal carotid artery occlusion. Clinical signs included left ophthalmoplegia, convulsions and right hemiplegia. Etiopathogenesis of this syndrome is unclear but as in our case, response to corticosteroid therapy is spectacular and avoids unnecessary invasive diagnostic procedures. We underline the importance of cross-sectional imaging in the diagnostic approach. Several other diseases including tumors, vascular lesions and infections can have a similar clinical and/or imaging presentation. However, closely monitored evolution on imaging proves to be decisive in the establishment of final diagnosis of this syndrome.

Identification of a novel PEX14 mutation in Zellweger syndrome.

BACKGROUND: Peroxisome biogenesis disorders are a clinically and genetically heterogeneous group of very severe autosomal recessive disorders caused by impaired peroxisome biogenesis. The prototype of this group of disorders is the cerebro-hepato-renal syndrome of Zellweger. METHODS AND RESULTS: Here we report a patient with Zellweger syndrome, who presented at the age of 3 months with icterus, dystrophy, axial hypotonia, facial dysmorphy, posterior embryotoxon, and hepatomegaly. Abnormal findings of metabolic screening tests included hyperbilirubinaemia, hypoketotic dicarboxylic aciduria, increased C(26:0) and decreased C(22:0) plasma levels, and strongly reduced plasmalogen concentrations. In fibroblasts, both peroxisomal alpha- and beta-oxidation were impaired. Liver histology revealed bile duct paucity, cholestasis, arterial hyperplasia, very small branches of the vena portae, and parenchymatic destruction. Immunocytochemical analysis of cultured fibroblasts demonstrated that the cells contain peroxisomal remnants lacking apparent matrix protein content and PEX14, a central membrane component of the peroxisomal matrix protein import machinery. Transfection of fibroblasts with a plasmid coding for wild-type PEX14 restored peroxisomal matrix protein import, indicating that the primary genetic defect affecting the patient is indeed linked to PEX14. Mutational analysis of this gene revealed a genomic deletion leading to the deletion of exon 3 from the coding DNA (c.85-?_170+?del) and a concomitant change of the reading frame (p.[Ile29_Lys56del;Gly57GlyfsX2]). CONCLUSIONS: This report represents the second PEX14-deficiency associated with Zellweger syndrome and the first documentation of a PEX14-deficient patient with detailed clinical follow-up and biochemical, morphological, and radiological data.