The Ranking Of Terminal And Instrumental Values By Working Professionals In Thailand, Singapore And The United States: What Is Important And How Do They Impact Decision-Making?

The purpose of this study is to explore gender and cross-cultural gender differences with respect to individual values. This study will fill a gap in the research literature as few studies have explored male and female value differences in Thailand and few have explored sex differences between eastern values as compared to western values in the United States and another eastern nation, Singapore. An understanding of the attitudes, cultures and values in other countries becomes particularly significant given current globalization trends. Furthermore, researchers also need to understand different demographics to better anticipate the impact of socio-demographic variation in cross-cultural investigations

Mapping of functionalized regions on carbon nanotubes by scanning tunneling microscopy

Scanning tunneling microscopy (STM) gives us the opportunity to map the surface of functionalized carbon nanotubes in an energy resolved manner and with atomic precision. But this potential is largely untapped, mainly due to sample stability issues which inhibit reliable measurements. Here we present a simple and straightforward solution that makes away with this difficulty, by incorporating the functionalized multiwalled carbon nanotubes (MWCNT) into a few layer graphene - nanotube composite. This enabled us to measure energy resolved tunneling conductance maps on the nanotubes, which shed light on the level of doping, charge transfer between tube and functional groups and the dependence of defect creation or functionalization on crystallographic orientation.Comment: Keywords: functionalization, carbon nanotubes, few layer graphene, STM, CITS, ST

Relación entre maltrato infantil y experiencias disociativas psicomorfas en mujeres con trastornos de la conducta alimentaria.

Introducción: La exposición temprana a experiencias traumáticas, tienen un profundo efecto negativo en la vida de las personas. Estudios sobre el tema, han sugerido que la disociación juega un papel mediador importante entre la presencia de trauma infantil y un posterior desarrollo de un trastorno de la conducta alimentaria (TCA) y que posiblemente, no tenerlo en cuenta a la hora de intervenir, puede interferir en que el tratamiento se desarrolle con éxito. Objetivo: Explorar la relación entre trauma infantil y síntomas disociativos psicomorfos en personas con TCA y la relación entre subtipo de TCA y tipo de maltrato. Material y Método: Se reclutaron a 16 mujeres con edad media de 31,06 años (DT= 10,75 ) de varios hospitales y centros de la Comunidad de Madrid con diagnóstico de TCA según criterios DSM- 5. Se administraron los cuestionarios DES II para explorar sintomatología disociativa y CTQ- SF para evaluar el maltrato sufrido en la infancia. Los datos se analizaron con el programa SPSS para Windows en su versión 24,0. Resultados: Los resultados mostraron que las pacientes que habían sufrido abuso físico y/o negligencia emocional en la infancia mostraban más sintomatología disociativa que en los casos en los que la experiencia traumática fue abuso emocional, sexual o negligencia física. En cuanto a los subtipos de TCA, parece que no hay relación en nuestra muestra entre el subtipo de TCA y los tipos de trauma infantil. Tampoco se encontró una relación significativa entre los subtipos de TCA y sintomatología disociativa pero estos datos pueden deberse al tamaño de la muestra. Conclusión: Las experiencias traumáticas en la infancia y los síntomas disociativos psicomorfos, parecen ser aspectos relevantes en el desarrollo de un TCA por lo que tener en cuenta éstos aspectos para el tratamiento puede hacer que este sea más exitoso.2018-201

SNX12 Role in Endosome Membrane Transport

In this paper, we investigated the role of sorting nexin 12 (SNX12) in the endocytic pathway. SNX12 is a member of the PX domain-containing sorting nexin family and shares high homology with SNX3, which plays a central role in the formation of intralumenal vesicles within multivesicular endosomes. We found that SNX12 is expressed at very low levels compared to SNX3. SNX12 is primarily associated with early endosomes and this endosomal localization depends on the binding to 3-phosphoinositides. We find that overexpression of SNX12 prevents the detachment (or maturation) of multivesicular endosomes from early endosomes. This in turn inhibits the degradative pathway from early to late endosomes/lysosomes, much like SNX3 overexpression, without affecting endocytosis, recycling and retrograde transport. In addition, while previous studies showed that Hrs knockdown prevents EGF receptor sorting into multivesicular endosomes, we find that overexpression of SNX12 restores the sorting process in an Hrs knockdown background. Altogether, our data show that despite lower expression level, SNX12 shares redundant functions with SNX3 in the biogenesis of multivesicular endosomes

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy

The extracellular matrix comprises a network of macromolecules such as collagens, proteoglycans and glycoproteins. VWA1 (von Willebrand factor A domain containing 1) encodes a component of the extracellular matrix that interacts with perlecan/collagen VI, appears to be involved in stabilizing extracellular matrix structures, and demonstrates high expression levels in tibial nerve. Vwa1-deficient mice manifest with abnormal peripheral nerve structure/function; however, VWA1 variants have not previously been associated with human disease. By interrogating the genome sequences of 74 180 individuals from the 100K Genomes Project in combination with international gene-matching efforts and targeted sequencing, we identified 17 individuals from 15 families with an autosomal-recessive, non-length dependent, hereditary motor neuropathy and rare biallelic variants in VWA1. A single disease-associated allele p.(G25Rfs*74), a 10-bp repeat expansion, was observed in 14/15 families and was homozygous in 10/15. Given an allele frequency in European populations approaching 1/1000, the seven unrelated homozygote individuals ascertained from the 100K Genomes Project represents a substantial enrichment above expected. Haplotype analysis identified a shared 220 kb region suggesting that this founder mutation arose >7000 years ago. A wide age-range of patients (6–83 years) helped delineate the clinical phenotype over time. The commonest disease presentation in the cohort was an early-onset (mean 2.0 ± 1.4 years) non-length-dependent axonal hereditary motor neuropathy, confirmed on electrophysiology, which will have to be differentiated from other predominantly or pure motor neuropathies and neuronopathies. Because of slow disease progression, ambulation was largely preserved. Neurophysiology, muscle histopathology, and muscle MRI findings typically revealed clear neurogenic changes with single isolated cases displaying additional myopathic process. We speculate that a few findings of myopathic changes might be secondary to chronic denervation rather than indicating an additional myopathic disease process. Duplex reverse transcription polymerase chain reaction and immunoblotting using patient fibroblasts revealed that the founder allele results in partial nonsense mediated decay and an absence of detectable protein. CRISPR and morpholino vwa1 modelling in zebrafish demonstrated reductions in motor neuron axonal growth, synaptic formation in the skeletal muscles and locomotive behaviour. In summary, we estimate that biallelic variants in VWA1 may be responsible for up to 1% of unexplained hereditary motor neuropathy cases in Europeans. The detailed clinical characterization provided here will facilitate targeted testing on suitable patient cohorts. This novel disease gene may have previously evaded detection because of high GC content, consequential low coverage and computational difficulties associated with robustly detecting repeat-expansions. Reviewing previously unsolved exomes using lower QC filters may generate further diagnoses

Identification of a Novel CYP11B2 Variant in a Family with Varying Degrees of Aldosterone Synthase Deficiency

Isolated aldosterone synthase deficiency is a rare autosomal recessive disorder caused by pathogenic variants in CYP11B2, resulting in impaired aldosterone synthesis. We report on a neonate with isolated aldosterone synthase deficiency caused by a novel homozygous CYP11B2 variant Chr8: NM_000498.3: c.400G>A p.(Gly134Arg). The patient presented shortly after birth with severe signs of aldosterone deficiency. Interestingly, segregation analysis revealed that the patient's asymptomatic father was also homozygous for the CYP11B2 variant. Biochemical evaluation of the father indicated subclinical enzyme impairment, characterized by elevated aldosterone precursors. Apparently, this homozygous variant led to different clinical phenotypes in two affected relatives. In this manuscript we elaborate on the biochemical and genetic work-up performed and describe potential pitfalls in CYP11B2 sequencing due to its homology to CYP11B1