enzyme replacement therapy followed by stem cell transplantation in children with Gaucher disease type 1 and 3

alexandrossfakianakis shared this article with you from Inoreader Comprehensive and long‐term outcomes of enzyme replacement therapy followed by stem cell transplantation in children with Gaucher disease type 1 and 3 via Pediatric Blood & Cancer Abstract Background Gaucher disease (GD) is a lysosomal storage disorder, characterized by hepatosplenomegaly, pancytopenia, bone diseases, with or without neurological symptoms. Plasma glucosylsphingosine (lyso-Gb1), a highly sensitive and specific biomarker for GD, has been used for diagnosis and monitoring the response to treatment. Enzyme replacement therapy (ERT) is an effective treatment for the non-neurologic symptoms of GD. Neuronopathic GD (type 2 and 3) accounts for 60%–70% of the Asian affected population. Methods We explored combination therapy of ERT followed by hematopoietic stem cell transplantation (HSCT) and its long-term outcomes in patients with GD type 3 (GD3). Results Four patients with GD3 and one with GD type 1 (GD1) underwent HSCT. The types of donor were one matched-related, one matched-unrelated, and three haploidentical. The age at disease onset was 6–18 months and the age at HSCT was 3.8–15 years in the patients with GD3. The latest age at follow-up was 8–22 years, with a post-HSCT duration of 3–14 years. All patients had successful HSCT. Chronic graft-versus-host disease occurred in one patient. The enzyme activities were normalized at 2 weeks post HSCT. Lyso-Gb1 concentrations became lower than the pathological value. All of the patients are still alive and physically independent. Most of them (4/5) returned to school. None of the patients with GD3 had seizures or additional neurological symptoms after HSCT, but showed varying degrees of cognitive impairment. Conclusions ERT followed by HSCT could be considered as an alternative treatment for patients with GD3 who have a high risk of fatal neurological progression. View on Web

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Involuntary evaluation of others' emotional expressions depends on the expresser's group membership. Further evidence for the social message account from the extrinsic affective Simon task

alexandrossfakianakis shared this article with you from Inoreader Involuntary evaluation of others' emotional expressions depends on the expresser's group membership. Further evidence for the social message account from the extrinsic affective Simon task via British Journal of Social Psychology Abstract The social message account (SMA) hypothesizes that the evaluation of emotional facial expressions depends on the ethnicity of the expressers. For example, according to SMA, a happy face of a member of a prejudiced ethnicity is immediately interpreted as potentially malevolent. Evidence for this approach was found initially in evaluative priming (EP) and approach-avoidance tasks (AA) by showing an emotion × ethnicity interaction on positivity scores (EP) and approach scores (AA), respectively. Recently, attempts to replicate the EP results failed. Due to the inconclusive EP results, it was important to examine the influence of ethnicity on processing of emotional expression with another task testing involuntary evaluations. The extrinsic affective Simon task was used with stimuli varying on emotion (happy vs. fear) and ethnicity (White-Caucasian vs. Middle-Eastern men). This task was chosen because in contrast to EP (where faces are presented as task-irrelevant primes) faces are t ask-relevant. Experiment 1 yielded an emotion × ethnicity interaction with regard to positivity scores that fit SMA predictions. The results are also important in challenging a recent theoretical alternative to SMA, namely the processing conflict account. A generalization of the emotion × ethnicity pattern to learned arbitrary in- and out-groups (Experiment 2) failed, suggesting that involuntary processing of (task-irrelevant) group status depends on perceptual features. View on Web

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Imaging of pediatric calvarial and skull base tumors: A COG Diagnostic Imaging Committee/SPR Oncology Committee/ASPNR White Paper

alexandrossfakianakis shared this article with you from Inoreader Imaging of pediatric calvarial and skull base tumors: A COG Diagnostic Imaging Committee/SPR Oncology Committee/ASPNR White Paper via Pediatric Blood & Cancer Abstract A standardized imaging protocol for pediatric oncology patients is essential for accurate and efficient imaging, while simultaneously promoting collaborative understanding of pathologies and radiologic assessment of treatment response. The objective of this article is to provide standardized pediatric imaging guidelines and parameters for evaluation of tumors of the pediatric orbit, calvarium, skull base, and temporal bone. This article was drafted based on current scientific literature as well as consensus opinions of imaging experts in collaboration with the Children's Oncology Group Diagnostic Imaging Committee, Society of Pediatric Radiology Oncology Committee, and American Society of Pediatric Neuroradiology. View on Web

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