Culture-level dimensions of social axioms and their correlates across 41 cultures

Leung and colleagues have revealed a five-dimensional structure of social axioms across individuals from five cultural groups. The present research was designed to reveal the culture level factor structure of social axioms and its correlates across 41 nations. An ecological factor analysis on the 60 items of the Social Axioms Survey extracted two factors: Dynamic Externality correlates with value measures tapping collectivism, hierarchy, and conservatism and with national indices indicative of lower social development. Societal Cynicism is less strongly and broadly correlated with previous values measures or other national indices and seems to define a novel cultural syndrome. Its national correlates suggest that it taps the cognitive component of a cultural constellation labeled maleficence, a cultural syndrome associated with a general mistrust of social systems and other people. Discussion focused on the meaning of these national level factors of beliefs and on their relationships with individual level factors of belief derived from the same data set.(undefined

Doctor of Philosophy

dissertationParents of children with Autism Spectrum Disorder (ASD) living in underserviced rural areas were provided with training based on Applied Behavior Analysis (ABA) through a combination of teleconsultation and the online Rethink Autism program. Primary study aims were gains in child behavior and parent ABA implementation integrity, with secondary aims of social validity and cost-benefit analyses. A nonconcurrent multiple baseline design was used across three rural families. Following in-vivo orientation, three phases were completed remotely through Rethink and teleconsultation. The baseline phase involved novice participants implementing ABA using only a one-page lesson printout. This was followed by successful completion of four Rethink ABA training modules. During the intervention phase, participants had access to Rethink's high definition video modeling and coaching delivered via teleconsultation. The generalization phase replicated baseline conditions with a never-before-seen lesson; participants had only the lesson printout without coaching or video modeling. Outcomes reveal large effect sizes for parent increases in ABA implementation integrity from baseline to generalization (Tau-U = 0.82), coupled with child skill gains in their ABA lesson programming (Tau-U = 0.80). Both Rethink and teleconsultation were rated with high acceptability and perceived effectiveness. Cost analyses show financial benefits of Rethink and teleconsultation in terms of ABA programming (annual savings = $18,051 per child), logistical expense (average travel of 49 driving hours over 2,900 miles), and ABA consultation costs (average savings by teleconsultation =$300.16). These results are discussed within the scope of the current literature base, along with implications, limitations, and directions for future research

Genotype-phenotype relationships in mucopolysaccharidosistype I (MPS I) : insights from the International MPS I Registry

Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive disorder resultingfrom pathogenic variants in theα-L-iduronidase (IDUA) gene. Clinical phenotypesrange from severe (Hurler syndrome) to attenuated (Hurler-Scheie and Scheie syn-dromes) and vary in age of onset, severity, and rate of progression. Defining the phe-notype at diagnosis is essential for disease management. To date, no systematicanalysis of genotype-phenotype correlation in large MPS I cohorts have been per-formed. Understanding genotype-phenotype is critical now that newborn screeningfor MPS I is being implemented. Data from 538 patients from the MPS I Registry(380 severe, 158 attenuated) who had 2IDUAalleles identified were examined. Inthe 1076 alleles identified, 148 pathogenic variants were reported; of those, 75 wereunique. Of the 538 genotypes, 147 (27%) were unique; 40% of patients with attenu-ated and 22% of patients with severe MPS I had unique genotypes. About 67.6% ofsevere patients had genotypes where both variants identified are predicted toseverely disrupt protein/gene function and 96.1% of attenuated patients had at leastone missense or intronic variant. This dataset illustrates a close genotype/phenotypecorrelation in MPS I but the presence of uniqueIDUAmissense variants remains achallenge for disease prediction

Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry

Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive disorder resulting from pathogenic variants in the α-L-iduronidase (IDUA) gene. Clinical phenotypes range from severe (Hurler syndrome) to attenuated (Hurler-Scheie and Scheie syndromes) and vary in age of onset, severity, and rate of progression. Defining the phenotype at diagnosis is essential for disease management. To date, no systematic analysis of genotype-phenotype correlation in large MPS I cohorts have been performed. Understanding genotype-phenotype is critical now that newborn screening for MPS I is being implemented. Data from 538 patients from the MPS I Registry (380 severe, 158 attenuated) who had 2 IDUA alleles identified were examined. In the 1076 alleles identified, 148 pathogenic variants were reported; of those, 75 were unique. Of the 538 genotypes, 147 (27%) were unique; 40% of patients with attenuated and 22% of patients with severe MPS I had unique genotypes. About 67.6% of severe patients had genotypes where both variants identified are predicted to severely disrupt protein/gene function and 96.1% of attenuated patients had at least one missense or intronic variant. This dataset illustrates a close genotype/phenotype correlation in MPS I but the presence of unique IDUA missense variants remains a challenge for disease prediction

SARC006: Phase II Trial of Chemotherapy in Sporadic and Neurofibromatosis Type 1 Associated Chemotherapy-Naive Malignant Peripheral Nerve Sheath Tumors.

BackgroundWorse chemotherapy response for neurofibromatosis type 1- (NF1-) associated compared to sporadic malignant peripheral nerve sheath tumors (MPNST) has been reported.MethodsWe evaluated the objective response (OR) rate of patients with AJCC Stage III/IV chemotherapy-naive NF1 MPNST versus sporadic MPNST after 4 cycles of neoadjuvant chemotherapy, 2 cycles of ifosfamide/doxorubicin, and 2 cycles of ifosfamide/etoposide. A Simon optimal two-stage design was used (target response rate 40%).Results34 NF1 (median age 33 years) and 14 sporadic (median age 40 years) MPNST patients enrolled. Five of 28 (17.9%) evaluable NF1 MPNST patients had a partial response (PR), as did 4 of 9 (44.4%) patients with sporadic MPNST. Stable disease (SD) was achieved in 22 NF1 and 4 sporadic MPNST patients. In both strata, results in the initial stages met criteria for expansion of enrollment. Only 1 additional PR was observed in the expanded NF1 stratum. Enrollment was slower than expected and the trial closed before full accrual.ConclusionsThis trial was not powered to detect differences in response rates between NF1 and sporadic MPNST. While the OR rate was lower in NF1 compared to sporadic MPNST, qualitative responses were similar, and disease stabilization was achieved in most patients