Representation of the 606 neurological patients in the clinical groups.

<p>Each group shows the percentage of patients with high CSF WBC, high CSF proteins and high CSF neopterin. The inflammatory/immune-mediated group had a significantly elevated percentage of high CSF WBC (^*X² = 27.91, p<0.001), high CSF proteins (^ΨX² = 17.51, p<0.001) and high CSF NP (^ΦX² = 103.73, p<0.001) compared with the other groups.</p

Patients with CSF neopterin levels below 61/l (n = 550).

<p>Out of 550 patients with CSF neopterin levels below 61 nmol/l, 68 patients had altered CSF proteins, and nine had altered CSF leucocytes. CSF NP: cerebrospinal fluid neopterin. The results are shown as the median and interval in brackets.</p

CSF biochemical values from subjects with CNS infections and peripheral infections.

<p>*Significant values were observed in Total Group 1 vs Total Group 2 (U-Mann Whitney test). The data for the CSF variables are shown as median and range in brackets. CSF: cerebrospinal fluid, WBC: white blood cells.</p

Patients with CSF neopterin levels above 61/l (n = 56).

<p>*Inflammatory/immune-mediated group had significantly elevated CSF neopterin (X² = 35.01, p<0.001), CSF proteins (X² = 12.71, p = 0.002) and CSF leukocytes (X² = 6.23, p = 0.044) compared with the other groups. Moreover, up to 69.6% of the patients more frequently had CSF NP>61 nmol/L. Out of 56 patients with a CSF neopterin level above 61 nmol/l, 13 patients had altered CSF proteins and four had altered CSF leucocytes.</p><p>AGS: Aicardi-Goutières syndrome; ARCI: arthrogryposis, renal tubular dysfunction, cholestasis, ichthyosis syndrome; anti-NMDA encephalitis: anti-(N-methyl D-aspartate) receptor encephalitis; CINCA: chronic infantile neurological, cutaneous and articular syndrome; VLCAD: very long-chain acyl-CoA dehydrogenase; CSF NP: cerebrospinal fluid neopterin; WBC: white blood cells. Dist: disturbances. The results are shown as the median and interval in brackets.</p

ROC curve to determine the new CSF neopterin cut-off.

<p>The samples were classified into two groups according to the condition that they presented either bacterial/viral central infection (n = 68) or peripheral infection (n = 52). The area under the curve was 0.934 (range: 0.883–0.985) with 61 nmol/l as the new cut-off. The sensitivity was 91.3%, and the specificity was 88.5%.</p

Treatment of genetic defects of thiamine transport and metabolism

<p><b>Introduction</b>: Thiamine is a key cofactor for energy metabolism in brain tissue. There are four major genetic defects (<i>SLC19A2, SLC19A3, SLC25A19</i> and <i>TPK1</i>) involved in the metabolism and transport of thiamine through cellular and mitochondrial membranes. Neurological involvement predominates in three of them (<i>SLC19A3, SCL25A19</i> and <i>TPK1</i>), whereas patients with <i>SLC19A2</i> mutations mainly present extra-neurological features (e.g. diabetes mellitus, megaloblastic anaemia and sensori-neural hearing loss). These genetic defects may be amenable to therapeutic intervention with vitamins supplementation and hence, constitutes a main area of research.</p> <p><b>Areas covered</b>: We conducted a literature review of all reported cases with these genetic defects, and focused our paper on treatment efficacy and safety, adverse effects, dosing and treatment monitoring.</p> <p><b>Expert commentary</b>: Doses of thiamine vary according to the genetic defect: for <i>SLC19A2</i>, the usual dose is 25–200 mg/day (1–4 mg/kg per day), for <i>SLC19A3</i>, 10–40 mg/kg per day, and for <i>TPK1</i>, 30 mg/kg per day. Thiamine supplementation in <i>SLC19A3</i>-mutated patients restores CSF and intracellular thiamine levels, resulting in successful clinical benefits. In conclusion, evidence collected so far suggests that the administration of thiamine improves outcome in <i>SLC19A-2, SLC19A3-</i> and <i>TPK1</i>-mutated patients, so most efforts should be aimed at early diagnosis of these disorders.</p

Différences individuelles et techniques d’entrevue : effets sur la déclaration d’une agression sexuelle

Bien souvent, l’agression sexuelle (AS) d’un enfant est un événement à caractère secret, dont seul l’agresseur et la victime peuvent témoigner. Puisque l’agresseur tend à nier les faits, la déclaration de l’enfant pendant l’entrevue d’investigation constitue bien souvent la seule preuve disponible pour confirmer les allégations d’AS. L’objectif de cette recension des écrits vise à documenter les différences individuelles qui influencent le rappel d’un événement, soit l’âge, les habiletés cognitives, le tempérament et la nature des événements à se remémorer. Dans l’ensemble, la synthèse des principaux résultats de recherche souligne l’importance de considérer non seulement les techniques d’entrevue, mais également les caractéristiques de l’enfant et des événements vécus lorsqu’il est question des facteurs influençant la déclaration d’une AS. Il est donc important que l’entrevue d’investigation soit conduite en utilisant des techniques adéquates et adaptées à l’enfant et à la situation d’AS vécue, dans le but d’obtenir une déclaration détaillée de l’AS, souvent nécessaire pour protéger l’enfant