Treatment of infantile fibrosarcoma associated to an abdominal aortic aneurysm with larotrectinib: a case report.

Infantile fibrosarcoma (IFS) is a rare pediatric tumor which often presents the ETV6-NTRK3 gene fusion. NTRK3 encodes the neurotrophin-3 growth factor receptor tyrosine kinase, a druggable therapeutic target. Selective tropomyosin receptor kinase (TRK) inhibitors, such as larotrectinib, have shown efficacy and safety in the treatment of IFS. We report a case of an abdominal IFS diagnosed in a newborn associated with an aortic aneurysm that was successfully treated with larotrectinib without relevant adverse effects.

Smoking does not impact social and non-social cognition in patients with first episode psychosis.

BACKGROUND: Many studies having shown significant improvements in non-social and social cognitive performance in smoking FEP patients compared to non-smoking FEP patients. The findings are controversial. This study analyzed the effects of tobacco use on non-social and social cognitive function in a large group of FEP patients and a matched healthy control group. METHODS: A sample of 335 patients with FEP and 253 healthy controls was divided into four subgroups: control tobacco users (CTU), control non-tobacco users (CNTU), patient tobacco users (PTU) and patient non-tobacco users (PNTU). Demographic variables, tobacco use variables (presence or absence, frequency and duration of tobacco use), neurocognitive (non-social) performance and social cognition were assessed. RESULTS: Comparison of 4 subgroups in non-social cognitive function revealed significant differences after controlling for covariables in executive functions (F=13.45; p≤0.001) and working memory domains (F=4.30; p=0.005). CTU and CNTU subgroups scored higher in all the domains compared to the PTU and the PNTU subgroups respectively. Social cognitive function was also significantly different within the four subgroups, with control subgroups showing better social cognition than patient subgroups. Significant differences in the executive functions domain were observed when comparing PTU and CTU groups (F=19.60; p≤0.001). No significant differences were revealed in the comparison between the patient groups. CONCLUSIONS: This large study suggests that tobacco use in FEP patients is not related to better non-social or social cognitive performance.

Basal ganglia and ventricle volume in first-episode psychosis. A family and clinical study.

Patients with first-episode psychosis (FEP) exhibit considerable heterogeneity in subcortical brain volumes. We sought to compare ventricle and basal ganglia volumes in FEP patients (n = 50) with those in unaffected relatives (n = 21) and healthy controls (n = 24). Participants were assessed with a semistructured interview and underwent structural magnetic resonance imaging (MRI). Patients had significantly larger left lateral, right lateral and third ventricle volumes than their siblings and larger third ventricle volumes than controls. Additionally, they showed a trend toward significance by having larger right caudate nuclei than controls. Moreover, FEP patients showed lower caudate and putamen laterality indexes (leftward shifts) than healthy controls but not regarding their siblings. Besides, negative dimension was directly associated with lateral and third ventricle volumes and positive dimension with thalamus and ventral diencephalon nuclei. Our findings added evidence to the associations between early enlargement of brain ventricles and negative symptoms, and between early enlargement of thalamic and ventral-diencephalon nuclei and positive symptoms. Moreover, the cumulative exposition to antipsychotics in FEP patients might be related to enlargement of certain subcortical structures, such as the right nucleus accumbens and third ventricle.

Cannabis use, COMT, BDNF and age at first-episode psychosis.

Although an interaction between COMT Val158Met and BDNF Val66Met polymorphisms with cannabis use has been proposed with respect to the risk of psychosis emergence, findings remain inconclusive. The aim of the present study was to evaluate the different possible associations between these polymorphisms and early cannabis use and the age at the first episode of psychosis. The relationship between age at psychosis onset and COMT Val158Met and BDNF Val66Met polymorphisms with early cannabis use as well as those factors associated with early cannabis use were investigated. Among 260 Caucasian first-episode psychosis patients, early cannabis use and the presence of the met-allele from the BDNF Val66Met polymorphism were significantly associated with age at psychosis onset. Furthermore, early cannabis use was significantly associated with male gender in the logistic regression analysis. These findings provide evidence of the important role of early cannabis use and the Val66Met BDNF polymorphism on age at psychosis onset and they point out to sex-specific differences in cannabis use patterns.

Prevalence of fat redistribution and metabolic disorders in human immunodeficiency virus-infected children.

UNLABELLED: In this study we assessed the prevalence of fat redistribution and metabolic disorders in a population of HIV-infected children on antiretroviral treatment. To make associations with epidemiological parameters, clinical-immune status, viral load and highly active antiretroviral therapy (HAART), we performed a cross-sectional study in HIV-infected children. Epidemiological parameters (age, sex, family history), clinical and immune status, viral load, and duration of antiretroviral treatment (ART) and HAART, including protease inhibitors, were recorded. Presence of clinical signs of fat redistribution and lipid, glucose and lactic acid levels were evaluated. A total of 56 HIV-infected children, including 30 boys (54%), aged between 21 months and 18 years (mean 9.5 years) were studied. In all, 49 patients (87.5%) were receiving ART (mean duration 4 years) and 43 (77%) were receiving HAART (mean duration 3.6 years). Fat redistribution or lipodystrophy was present in 14 patients (25%); seven had lipohypertrophy (12.5%), two lipoatrophy (3.5%) and five a mixed pattern (8.9%). Fat redistribution was higher in children older than 11 years (50%). Of the lipodystrophic patients, 71.4% presented hypertriglyceridaemia (> 130 mg/dl) and 57% hypercholesterolaemia (> 180 mg/dl). We found significant associations between lipodystrophy and age, ART and HAART duration and hypertriglyceridaemia ( P < 0.001, 0.002, 0.016 and < 0.001, respectively), but no significant association with sex, family history, clinical or immune status and viral load. CONCLUSION: The prevalence of lipodystrophy was 25% (95% confidence interval 14.8-34.6) with lipohypertrophy being the commonest pattern. Clinical fat redistribution was significantly associated with older age, duration of antiretroviral treatment and highly active antiretroviral therapy and hypertriglyceridaemia.