Microbial incorporation of 13C-labeled acetate at the field scale: detection of microbes responsible for reduction of U(VI)

A field-scale acetate amendment experiment was performed in a contaminated aquifer at Old Rifle, CO to stimulate in situ microbial reduction of U(VI) in groundwater. To evaluate the microorganisms responsible for microbial uranium reduction during the experiment, 13C-labeled acetate was introduced into well bores via bio-traps containing porous activated carbon beads (Bio-Sep). Incorporation of the 13C from labeled acetate into cellular DNA and phospholipid fatty acid (PLFA) biomarkers was analyzed in parallel with geochemical parameters. An enrichment of active sigma-proteobacteria was demonstrated in downgradient monitoring wells: Geobacter dominated in wells closer to the acetate injection gallery, while various sulfate reducers were prominent in different downgradient wells. These results were consistent with the geochemical evidence of Fe(III), U(VI), and SO(4)2- reduction. PLFA profiling of bio-traps suspended in the monitoring wells also showed the incorporation of 13C into bacterial cellular lipids. Community composition of downgradient monitoring wells based on quinone and PLFA profiling was in general agreement with the 13C-DNA result. The direct application of 13C label to biosystems, coupled with DNA and PLFA analysis,     

Association of parental psychopathology to the comorbid disorders of boys with attention deficit-hyperactivity disorder.

This study examined whether particular forms of parental psychopathology are related to similar forms of comorbid psychopathology in offspring with attention deficit-hyperactivity disorder (ADHD). Parental disorders were assessed using maternal interviews, and child disorders were assessed using multiple-informant interviews for 111 clinic-referred boys (aged 7–12) with Diagnostic and Statistical Manual of Mental Disorders (3rd ed., rev.: American Psychiatric Association, 1987) ADHD. Associations between parental and child internalizing disorders and between parental and child externalizing disorders were found, but associations across categories of disorder (i.e., internalizing and externalizing) were not. Similar relationships were observed in 66 clinic-referred boys without ADHD. These findings support specific modes of familial transmission, in contrast to theories that comorbidity simply reflects more severe psychopathology in children with ADHD. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases

The purpose of this study was to develop a flexible, cost-efficient, next-generation sequencing (NGS) protocol for genetic testing. Long-range polymerase chain reaction (PCR) amplicons of up to 20 kb in size were designed to amplify entire genomic regions for a panel (n = 35) of inherited retinal disease (IRD)-associated loci. Amplicons were pooled and sequenced by NGS. The analysis was applied to 227 probands diagnosed with IRD: (A) 108 previously molecularly diagnosed, (B) 94 without previous genetic testing, and (C) 25 undiagnosed after whole-exome sequencing (WES). The method was validated with 100% sensitivity on cohort A. Long-range PCR-based sequencing revealed likely causative variant(s) in 51% and 24% of proband from cohorts B and C, respectively. Breakpoints of 3 copy number variants (CNVs) could be characterized. Long-range PCR libraries spike-in extended coverage of WES. Read phasing confirmed compound heterozygosity in 5 probands. The proposed sequencing protocol provided deep coverage of the entire gene, including intronic and promoter regions. Our method can be used (i) as a first-tier assay to reduce genetic testing costs, (ii) to elucidate missing heritability cases, (iii) to characterize breakpoints of CNVs at nucleotide resolution, (iv) to extend WES data to non-coding regions by spiking-in long-range PCR libraries, and (v) to help with phasing of candidate variants.     

Treatment-related changes in objectively measured parenting behaviors in the multimodal treatment study of children with attention-deficit/hyperactivity disorder.

The present study examined treatment outcomes for objectively measured parenting behavior in the Multimodal Treatment Study of Children with Attention-Deficit/Hyperactivity Disorder (ADHD). Five hundred seventy-nine ethnically and socioeconomically diverse children with ADHD-combined type (ages 7.0-9.9 years) and their parent(s) were recruited at 6 sites in the United States and Canada and randomly assigned to 1 of 4 treatment groups for 14 months of active intervention: medication management (MedMgt), intensive behavior therapy, combination of the 2 (Comb), or a community-treated comparison (CC). Baseline and posttreatment laboratory observations of parent-child interactions were coded by observers blind to treatment condition. Comb produced significantly greater improvements in constructive parenting than did MedMgt or CC, with effect sizes approaching medium for these contrasts. Treatment effects on child behaviors were not significant. The authors discuss the importance of changes in parenting behavior for families of children with ADHD and the need for reliable and objective measures in evaluating treatment outcome. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Chemical and microbial effects of atmospheric particles on the performance of steep-slope roofing materials

The reflectivity of a roof is a critical component in design of strategy to reduce overall building energy usage. Airborne particulate matter that settles on a roof can either reflect or absorb incoming solar radiation. The light scattering and absorption processes occur within a few microns of the surface that affects the solar reflectance of the roof. The long-term loss of roof reflectivity appears driven by the ability of the atmospheric particulate matter to cling onto the roof and resist being washed off by wind and or rain. Contaminants collected from samples of roof products exposed at seven California sites for about one and a half years were analysed for major and trace elements and carbons to assist characterization of the chemical profile of the atmospheric particles that soil each roof sample. The chemical composition of the accumulated particles was very similar across the state of California; there was no clear distinction from one region to another. Elemental carbon did not contribute significantly to the loss of solar reflectance as initially expected. Dust particles and organic carbon compensated for the loss of solar reflectance due to elemental carbon possibly because some crystalline forms of these elements were light reflecting and contributed to the solar reflectance. Differences in microbial communities and biomass were seen between the various materials. Abundance of microbial biomass on roof tiles appears to be related to the composition/surface structure of the tile. Cyanobacteria or fungi represent the dominant player.     

Influence of phosphatidylserine and phosphatidylethanolamine on farnesol tolerance in Candida albicans

Candida albicans is among the most common human fungal pathogens. The ability to undergo the morphological transition from yeast to hyphal growth is critical for its pathogenesis. Farnesol, a precursor in the isoprenoid/sterol pathway, is a quorum‐sensing molecule produced by C. albicans that inhibits hyphal growth in this polymorphic fungus. Interestingly, C. albicans can tolerate farnesol concentrations that are toxic to other fungi. We hypothesized that changes in phospholipid composition are one of the factors contributing to farnesol tolerance in C. albicans. In this study, we found that loss of enzymes that synthesize the phospholipids phosphatidylserine (PS) and/or phosphatidylethanolamine (PE) compromise the tolerance of C. albicans to farnesol. Compared with wild type, the phospholipid mutant cho1?/? (loss of PS and decreased PE synthesis) shows greater inhibition of growth, loss of ATP production, increased consumption of oxygen, and increased formation of reactive oxygen species in the presence of farnesol. The cho1?/? mutant also exhibits decreased sensitivity to mitochondrial ATPase inhibition, suggesting that cells lacking PS and/or downstream PE rely less on mitochondrial function for ATP synthesis. These data reveal that PS and PE play roles in farnesol tolerance and maintaining mitochondrial respiratory function.     

Evaluation of the validity of the Wechsler Intelligence Scale for Children—Third edition comprehension and picture arrangement subtests as measures of social intelligence.

Clinical lore suggests that the Wechsler Intelligence Scale for Children—Third Edition (D. M. Wechsler, 1991) Comprehension and Picture Arrangement scores may be used as indices of social intelligence. This study evaluated this supposition by comparing these subtest scores with mother- and teacher-reported social functioning in 142 children with ADHD and 30 control children. After general intelligence was partialled out, the Comprehension subtest related to some aspects of social functioning, but the clinical significance of this was limited. The Picture Arrangement subtest was unrelated to social functioning, once general intelligence was controlled. These findings were consistent across study groups. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Homozygosity for a Novel DOCK7 Variant Due to Segmental Uniparental Isodisomy of Chromosome 1 Associated with Early Infantile Epileptic Encephalopathy (EIEE) and Cortical Visual Impairment

Early infantile epileptic encephalopathy (EIEE) is a severe neurologic and neurodevelopmental disease that manifests in the first year of life. It shows a high degree of genetic heterogeneity, but the genetic origin is only identified in half of the cases. We report the case of a female child initially diagnosed with Leber congenital amaurosis (LCA), an early-onset retinal dystrophy due to photoreceptor cell degeneration in the retina. The first examination at 9 months of age revealed no reaction to light or objects and showed wandering eye movements. Ophthalmological examination did not show any ocular abnormalities. The patient displayed mildly dysmorphic features and a global developmental delay. Brain MRI demonstrated pontine hypo-/dysplasia. The patient developed myoclonic epileptic seizures and epileptic spasms with focal and generalized epileptiform discharges on electroencephalogram (EEG) at the age of 16 months. Genetic screening for a potentially pathogenic DNA sequence variant by whole-exome sequencing (WES) revealed a novel, conserved, homozygous frameshift variant (c.5391delA, p.(Ala1798LeufsTer59)) in exon 42 of the DOCK7 gene ({"type":"entrez-nucleotide","attrs":{"text":"NM_001271999.1","term_id":"431822374","term_text":"NM_001271999.1"}}NM_001271999.1). Further analysis by SNP array (Karyomapping) showed loss of heterozygosity (LOH) in four segments of chromosome 1. WES data of the parents and the index patient (trio analysis) demonstrated that chromosome 1 was exclusively inherited from the mother. Four LOH segments of chromosome 1 alternately showed isodisomy (UPiD) and heterodisomy (UPhD). In WES data, the father was a noncarrier, and the mother was heterozygous for this DOCK7 variant. The DOCK7 gene is located in 1p31.3, a region situated in one of the four isodisomic segments of chromosome 1, explaining the homozygosity seen in the affected child. Finally, Sanger sequencing confirmed maternal UPiD for the DOCK7 variant. Homozygous or compound heterozygous pathogenic variants in the DOCK7 (dedicator of cytokinesis 7) gene are associated with autosomal recessive, early infantile epileptic encephalopathy 23 (EIEE23; OMIM #615,859), a rare and heterogeneous group of neurodevelopmental disorders diagnosed during early childhood. To our knowledge, this is the first report of segmental uniparental iso- and heterodisomy of chromosome 1, leading to homozygosity of the DOCK7 frameshift variant in the affected patient.     

Social skills training with parent generalization: Treatment effects for children with attention deficit disorder.

The effectiveness of brief social skills training (SST) was evaluated in a controlled outcome study with 27 children meeting criteria of the Diagnostic and Statistical Manual of Mental Disorders(3rd ed., revised; American Psychiatric Association, 1987) for an attention deficit disorder. Children were randomly assigned to either SST with parent-mediated generalization (SST-PG), child-only SST, or a wait-list control group. SST consisted of 8 group sessions in which skill modules were taught sequentially. Parents of children in the SST-PG group simultaneously participated in group generalization training designed to support their children's transfer of skills. Significant improvement in children's skill knowledge and in parent reports of social skills and disruptive behavior occurred for both treatment groups relative to the wait-list control group and maintained at a 4-month follow-up. More modest evidence was found for generalization of SST to the school setting. (PsycINFO Database Record (c) 2010 APA, all rights reserved)