White Matter Microstructure and Atypical Visual Orienting in 7-Month-Olds at Risk for Autism

The authors sought to determine whether specific patterns of oculomotor functioning and visual orienting characterize 7-month-old infants who later meet criteria for an autism spectrum disorder (ASD) and to identify the neural correlates of these behaviors

Facial Identity Recognition in the Broader Autism Phenotype

Peer reviewedPublisher PD

Role of IL-1 Beta in the Development of Human TH17 Cells: Lesson from NLPR3 Mutated Patients

T helper 17 cells (T(H)-17) represent a lineage of effector T cells critical in host defence and autoimmunity. In both mouse and human IL-1β has been indicated as a key cytokine for the commitment to T(H)-17 cells. Cryopyrin-associated periodic syndromes (CAPS) are a group of inflammatory diseases associated with mutations of the NLRP3 gene encoding the inflammasome component cryopyrin. In this work we asked whether the deregulated secretion of IL-1β secondary to mutations characterizing these patients could affect the IL-23/IL-17 axis.A total of 11 CAPS, 26 systemic onset juvenile idiopathic arthritis (SoJIA) patients and 20 healthy controls were analyzed. Serum levels of IL-17 and IL-6 serum were assessed by ELISA assay. Frequency of T(H)17 cells was quantified upon staphylococcus enterotoxin B (SEB) stimulation. Secretion of IL-1β, IL-23 and IL-6 by monocyte derived dendritic cells (MoDCs), were quantified by ELISA assay. A total of 8 CAPS and 11 SoJIA patients were also analysed before and after treatment with IL-1β blockade. Untreated CAPS patients showed significantly increased IL-17 serum levels as well as a higher frequency of T(H)17 compared to control subjects. On the contrary, SoJIA patients displayed a frequency of T(H)17 similar to normal donors, but were found to have significantly increased serum level of IL-6 when compared to CAPS patients or healthy donors. Remarkably, decreased IL-17 serum levels and T(H)17 frequency were observed in CAPS patients following in vivo IL-1β blockade. On the same line, MoDCs from CAPS patients exhibited enhanced secretion of IL-1β and IL-23 upon TLRs stimulation, with a reduction after anti-IL-1 treatment.These findings further support the central role of IL-1β in the differentiation of T(H)17 in human inflammatory conditions

Influence of pre-operative diagnosis and frozen section on operative management of pancreatic cystic lesions

Background. Frozen section analysis of cyst wall has been advocated as standard of care prior to surgical drainage of pancreatic pseudocysts. Recent studies have indicated that frozen section may be unreliable. Our aim was to investigate the role and accuracy of frozen section analysis of the cyst wall in the operative management of pancreatic cystic lesions. Methods. A retrospective review was performed of 44 patients who underwent operation for a cystic lesion of the pancreas. Results. Of the 25 patients with a diagnosis of pseudocyst, 9 patients had frozen section intra-operatively. Eight frozen sections demonstrated pseudocyst, and correlated with final pathology. One frozen section demonstrated a true cyst. Twenty-three patients had a final diagnosis of pseudocyst. Nineteen patients had a diagnosis of cystic neoplasm, and six patients had frozen sections. Three frozen sections were consistent with cystic neoplasm and correlated with final pathology. Three frozen sections demonstrated characteristics of pseudocyst, two correlated with final pathology, and one showed cystic neoplasm on final pathology. Conclusion. Routine use of frozen section may not be necessary; however, frozen section is useful when the intra-operative appearance does not correlate with pre-operative diagnosis

White Matter Microstructure and Atypical Visual Orienting in 7-Month-Olds at Risk for Autism

Objective: The authors sought to determine whether specific patterns of oculomotor functioning and visual orienting characterize 7-month-old infants who later meet criteria for an autism spectrum disorder (ASD) and to identify the neural correlates of these behaviors. Method: Data were collected from 97 infants, of whom 16 were high-familialrisk infants later classified as having an ASD, 40 were high-familial-risk infants who did not later meet ASD criteria (high-risk negative), and 41 were lowrisk infants. All infants underwent an eyetracking task at a mean age of 7 months and a clinical assessment at a mean age of 25 months. Diffusion-weighted imaging data were acquired for 84 of the infants at 7 months. Primary outcome measures included average saccadic reaction time in a visually guided saccade procedure and radial diffusivity (an index of white matter organization) in fiber tracts that included corticospinal pathways and the splenium and genu of the corpus callosum. Results: Visual orienting latencies were longer in 7-month-old infants who expressed ASD symptoms at 25 months compared with both high-risk negative infants and low-risk infants. Visual orienting latencies were uniquely associated with the microstructural organization of the splenium of the corpus callosum in low-risk infants, but this association was not apparent in infants later classified as having an ASD. Conclusions: Flexiblyandefficientlyorienting to salient information in the environment is critical for subsequent cognitive and social-cognitive development. Atypical visual orienting may represent an early prodromal feature of an ASD, and abnormal functional specialization of posterior cortical circuits directly informs a novel model of ASD pathogenesis