Search

Policy and planning for the evacuation of individuals with disabilities would benefit from a more informed and accepted understanding of the complexity of evacuation issues. This article proposes a framework perspective on 4 forms of emergency evacuation according to the timing and duration of the evacuation (protective, preventive, rescue, and reconstructive), as well as 3 overlying factors that affect all emergency evacuations: the behavior of the individual, the planned systems active in the event, and the environment in which the event occurs. The Americans with Disabilities Act Design Requirements for Accessible Egress is discussed to demonstrate the value of evaluating policy and planning according to the proposed framework. Recent catastrophic events have demonstrated a disproportionate effect of emergency evacuations on individuals with disabilities. These events have raised questions concerning the appropriateness and effectiveness of evacuation policies and practices, prompting many organizations to develop and disseminate evacuation planning solutions for the needs of individuals with disabilities. Policy and planning discussions for the evacuation of individuals with disabilities would benefit from a more informed and accepted understanding of the complexity of evacuation issues. This article attempts to explain the complexity by proposing a framework that emphasizes the conditions associated with various forms of emergency evacuations and factors that affect an individual's response to these conditions. The intent of the framework is to clarify the assumptions associated with emergency evacuations and to provide a framework that one may use to evaluate the appropriateness of the resulting policies and planning initiatives. [ABSTRACT FROM AUTHOR]

Investigates the performance of an adult with color agnosia. Performance in neuropsychological assessment; Components of his color cognition; Interpretation of his confrontational naming errors and errors from other cognitive tasks.

This article presents an effective framework for bilingual multicultural education of learners who are deaf with regard to the appropriate functions of pathology and pedagogy. The authors suggest that there may be a need for a new profession called sign pathology for those deaf children who experience difficulty in acquiring a signed language. This sign pathology field would be separate and distinct from general education of children who are deaf. This article describes a framework for the development of professional sign language pathologists, while differentiating between disorders related to signed language acquisition and bilingual language pedagogy for learners who are deaf. Copyright (c) 1998 by Aspen Publishers, Inc. [ABSTRACT FROM AUTHOR]

Background: Patients with dialysis-dependent kidney failure and treated for hyperphosphatemia receive a combination of dietary advice, phosphate binders and prolonged dialysis. However, research focusing on the challenges patients meet in everyday life addressing diet and medication is sparse., Objective: The objective of this study is to explore the everyday challenges patients meet when following treatment for hyperphosphatemia., Design: Interpretive description was the methodological approach. Semistructured in-depth interviews were employed to study the challenges patients experienced. Data were analysed using Braun and Clarke's reflexive thematic analysis., Participants: Patients (n = 14) receiving haemodialysis and treated for hyperphosphatemia from two hospitals in Southern Denmark., Findings: The analysis resulted in one over-arching theme; separation in social gatherings and two subthemes; a new social code, and my food and their food. Participants experienced difficulty integrating diet and medication in daily life, especially at social gatherings. They felt separated from others when special menus were provided for them or struggled when choosing between high and low phosphate-containing food. A new awareness of self and others arose, especially their position among families and friends, and how they presented themselves and their social identity to others. Likewise, a new social code manifested itself, which was difficult to accept. Most participants experienced that diet and medication were accompanied by a moral responsibility of whether to accept prepared food with high phosphorus content or not, which affected commensality., Conclusion: Patients were often nonadherent to hyperphosphatemia treatment at social gatherings. Hyperphosphatemia treatment led to new social identities with new social codes, which patients found difficult to accept., (© 2024 The Author(s). Journal of Renal Care published by John Wiley & Sons Ltd on behalf of European Dialysis & Transplant Nurses Association/European Renal Care Association.)

Background: Rates of mental health problems among youth are high and rising, whereas treatment seeking in this population remains low. Technology-delivered interventions (TDIs) appear to be promising avenues for broadening the reach of evidence-based interventions for youth well-being. However, to date, meta-analytic reviews on youth samples have primarily been limited to computer and internet interventions, whereas meta-analytic evidence on mobile TDIs (mTDIs), largely comprising mobile apps for smartphones and tablets, have primarily focused on adult samples., Objective: This study aimed to evaluate the effectiveness of mTDIs for a broad range of well-being outcomes in unselected, at-risk, and clinical samples of youth., Methods: The systematic review used 5 major search strategies to identify 80 studies evaluating 83 wellness- and mental health-focused mTDIs for 19,748 youth (mean age 2.93-26.25 years). We conducted a 3-level meta-analysis on the full sample and a subsample of the 38 highest-quality studies., Results: Analyses demonstrated significant benefits of mTDIs for youth both at posttest (g=0.27) and follow-up (range 1.21-43.14 weeks; g=0.26) for a variety of psychosocial outcomes, including general well-being and distress, symptoms of diverse psychological disorders, psychosocial strategies and skills, and health-related symptoms and behaviors. Effects were significantly moderated by the type of comparison group (strongest for no intervention, followed by inert placebo or information-only, and only marginal for clinical comparison) but only among the higher-quality studies. With respect to youth characteristics, neither gender nor pre-existing mental health risk level (not selected for risk, at-risk, or clinical) moderated effect sizes; however, effects increased with the age of youth in the higher-quality studies. In terms of intervention features, mTDIs in these research studies were effective regardless of whether they included various technological features (eg, tailoring, social elements, or gamification) or support features (eg, orientation, reminders, or coaching), although the use of mTDIs in a research context likely differs in important ways from their use when taken up through self-motivation, parent direction, peer suggestion, or clinician referral. Only mTDIs with a clear prescription for frequent use (ie, at least once per week) showed significant effects, although this effect was evident only in the higher-quality subsample. Moderation analyses did not detect statistically significant differences in effect sizes based on the prescribed duration of mTDI use (weeks or sessions), and reporting issues in primary studies limited the analysis of completed duration, thereby calling for improved methodology, assessment, and reporting to clarify true effects., Conclusions: Overall, this study's findings demonstrate that youth can experience broad and durable benefits of mTDIs, delivered in a variety of ways, and suggest directions for future research and development of mTDIs for youth, particularly in more naturalistic and ecologically valid settings., (©Colleen S Conley, Elizabeth B Raposa, Kate Bartolotta, Sarah E Broner, Maya Hareli, Nicola Forbes, Kirsten M Christensen, Mark Assink. Originally published in JMIR Mental Health (https://mental.jmir.org), 29.07.2022.)

Research suggests that mentoring programs may promote a range of positive outcomes in youth populations. Less is known, however, about the extent to which such programs are effective in specialized youth populations, such as youth involved in the foster care system. The current study aimed to investigate the extent to which mentoring interventions promote positive outcomes among youth involved in the foster care system and to systematically explore factors that may moderate the effectiveness of mentoring interventions. Using a multilevel meta-analytic approach, this study estimated the effect size of nine formal mentoring programs in the United States serving youth involved with the foster care system (total n = 55,561). Analyses revealed a small-to-medium-sized overall effect (g = 0.342). Moderator analyses revealed weaker effects for studies containing higher proportions of youth with emotional abuse histories. Programs deploying near-peer mentors were more than twice as effective as intergenerational mentors. The findings highlight the salience of emotional abuse history, suggesting the utility of providing mentor trainings in trauma-informed care for this population., (© 2021. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Objective: As understanding of the neurobiological basis of cognitive impairment in Down syndrome (DS) advances and new pharmaceutical interventions targeting neurodevelopment become available, an in-depth understanding of the family perspective is essential to inform research efforts. A mixed methods study was conducted with parents of individuals with DS to learn about attitudes toward pharmacological interventions to enhance cognition, participation in clinical research trials in DS, and the relationship between child/family-specific factors and parent attitudes., Method: Parents completed an online survey (N = 37) assessing family/child sociodemographic factors and to capture thoughts on cognitive enhancement and participation in clinical drug trials. A subset of interested parents participated in a follow-up phone interview (N = 21) or focus group (N = 3; 1 FG). Double-blind thematic analysis was used to analyze qualitative data., Results: Parents' attitudes toward improving cognition, reversing intellectual disability, and participation in clinical trials correlated with each other and were informed by specific parent and child factors (e.g., child attention-deficit hyperactivity disorder/behavioral diagnosis and parent education). Qualitative themes included advantages, disadvantages, and ethical implications of enhancing cognition. In addition, themes emerged regarding the need to understand the mechanism and potential side effects of experimental drugs, logistical factors relating to willingness to participate in clinical trials, and the evolution of parents' attitudes over time., Conclusion: The findings highlight the complexity of issues and implications of clinical trials for enhancing cognition in DS. Child-specific factors, logistical and safety considerations, and personal belief systems all inform parent attitudes and decision making. The findings reflect the importance of incorporating parent perspectives and values in research direction and design., Competing Interests: Disclosure: The authors declare no conflict of interest., (Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.)

Aminoacyl-tRNA synthetases (ARSs) are ubiquitous, ancient enzymes that charge amino acids to cognate tRNA molecules, the essential first step of protein translation. Here, we describe 32 individuals from 21 families, presenting with microcephaly, neurodevelopmental delay, seizures, peripheral neuropathy, and ataxia, with de novo heterozygous and bi-allelic mutations in asparaginyl-tRNA synthetase (NARS1). We demonstrate a reduction in NARS1 mRNA expression as well as in NARS1 enzyme levels and activity in both individual fibroblasts and induced neural progenitor cells (iNPCs). Molecular modeling of the recessive c.1633C>T (p.Arg545Cys) variant shows weaker spatial positioning and tRNA selectivity. We conclude that de novo and bi-allelic mutations in NARS1 are a significant cause of neurodevelopmental disease, where the mechanism for de novo variants could be toxic gain-of-function and for recessive variants, partial loss-of-function., (Copyright © 2020. Published by Elsevier Inc.)

Despite decades of increased research and funding, youth mentoring programs, overall, yield small effects on youth outcomes. As a result, there are growing calls for programs to utilize the mentoring relationship as context for intentional, targeted skills development, in which mentors employ targeted skills designed to match the presenting concerns of mentees. This targeted approach contrasts with the historically dominant, non-specific friendship model, which holds that a supportive relational bond-alone-promotes positive developmental change. The current study is a follow-up meta-analysis using a comprehensive dataset of all intergenerational, one-on-one mentoring program evaluations published between 1975 and 2018, investigating the comparative impact of targeted, skills-based versus non-specific, relational approaches to mentoring. Analyses of 48 mentoring studies of youth outcomes (average youth age of 12.25 years old) revealed the overall effect size of targeted programs to be more than double that of non-specific relational approaches, with significant moderator effects on academic, psychological, and social functioning. Findings suggest that youth mentoring programs can promote positive outcomes, particularly when mentors employ targeted approaches matched to the needs of their mentees.

Statewide newborn screening for Pompe disease began in Illinois in 2015. As of 30 September 2019, a total of 684,290 infants had been screened and 395 infants (0.06%) were screen positive. A total of 29 cases of Pompe disease were identified (3 infantile, 26 late-onset). While many of the remainder were found to have normal alpha-glucosidase activity on the follow-up testing (234 of 395), other findings included 62 carriers, 39 infants with pseudodeficiency, and eight infants who could not be given a definitive diagnosis due to inconclusive follow-up testing., Competing Interests: Conflicts of InterestB.K.B. has received consulting fees and/or honoraria from Sanofi Genzyme, Biomarin, Shire (a Takeda company), Ultragenyx, Moderna, Horizon, Alexion, Chiesi, Denali, JCR Pharma, Aeglea, and Agios. She has conducted contracted research for Sanofi Genzyme, Biomarin, Shire, Alexion, Ultragenyx, and Sangamo and Homology Medicines. J.C. has also received grant support for research from: Sanofi Genzyme, Shire, Amicus, BioMarin, and Protalix. Dorothy K. Grange conducts contracted research for Biomarin and Shire (a Takeda company). The following authors declare no conflict of interest: K.B., S.R.B., K.M.C., J.F., D.G., R.H., L.H., G.E.H., H.S., R.S., and P.S., (© 2020 by the authors.)

Objectives: To assess the outcome of population-based newborn screening for mucopolysaccharidosis type II (MPS II) during the first year of screening in Illinois., Study Design: Tandem mass spectrometry was used to measure iduronate-2-sulfatase (I2S) activity in dried blood spot specimens obtained from 162 000 infant samples sent to the Newborn Screening Laboratory of the Illinois Department of Public Health in Chicago., Results: One case of MPS II and 14 infants with pseudodeficiency for I2S were identified., Conclusions: Newborn screening for MPS II by measurement of I2S enzyme activity was successfully integrated into the statewide newborn screening program in Illinois., (Copyright © 2019 Elsevier Inc. All rights reserved.)

Late-preterm twins with propionic acidemia developed severe hyperammonemic encephalopathy at 5 days of age. Continuous venovenous hemodialysis was performed successfully for both infants via extracorporeal membrane oxygenation pump, and both rapidly improved. They were taken off continuous venovenous hemodialysis and extracorporeal membrane oxygenation and discharged with dietary therapy. At 3 years of age, neurodevelopment showed globally delayed milestones., (Copyright © 2016 Elsevier Inc. All rights reserved.)

Encephalocraniocutaneous lipomatosis (ECCL) is a sporadic condition characterized by ocular, cutaneous, and central nervous system anomalies. Key clinical features include a well-demarcated hairless fatty nevus on the scalp, benign ocular tumors, and central nervous system lipomas. Seizures, spasticity, and intellectual disability can be present, although affected individuals without seizures and with normal intellect have also been reported. Given the patchy and asymmetric nature of the malformations, ECCL has been hypothesized to be due to a post-zygotic, mosaic mutation. Despite phenotypic overlap with several other disorders associated with mutations in the RAS-MAPK and PI3K-AKT pathways, the molecular etiology of ECCL remains unknown. Using exome sequencing of DNA from multiple affected tissues from five unrelated individuals with ECCL, we identified two mosaic mutations, c.1638C>A (p.Asn546Lys) and c.1966A>G (p.Lys656Glu) within the tyrosine kinase domain of FGFR1, in two affected individuals each. These two residues are the most commonly mutated residues in FGFR1 in human cancers and are associated primarily with CNS tumors. Targeted resequencing of FGFR1 in multiple tissues from an independent cohort of individuals with ECCL identified one additional individual with a c.1638C>A (p.Asn546Lys) mutation in FGFR1. Functional studies of ECCL fibroblast cell lines show increased levels of phosphorylated FGFRs and phosphorylated FRS2, a direct substrate of FGFR1, as well as constitutive activation of RAS-MAPK signaling. In addition to identifying the molecular etiology of ECCL, our results support the emerging overlap between mosaic developmental disorders and tumorigenesis., (Copyright © 2016 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.)

Purpose: Fabry disease is a pan-ethnic, progressive, X-linked genetic disorder that commonly presents in childhood and is caused by deficient activity of the lysosomal enzyme alpha-galactosidaseA (α-gal A). Symptoms of Fabry disease in the pediatric population are well described for patients over five years of age; however, data are limited for infancy and early childhood. The purpose of this article is to delineate the age of detection for specific Fabry symptoms in early childhood., Methods: A systematic retrospective analysis of PubMed indexed, peer-reviewed publications and case reports in the pediatric Fabry population was performed to review symptoms in patients reported before 5 years of age., Results: The most frequently reported symptom in all age groups under 5 years was acroparesthesias/neuropathic pain, reported in 9 children, ranging in age from 2.0-4.0 years. Also notable is the frequency of gastrointestinal issues reported in 6 children aged 1.0-4.1 years of age., Conclusion: This article finds clear evidence that symptoms can occur in early childhood, before age 5 years. Given early presenting symptoms and the ability to monitor these disease hallmarks, a timely referral to a medical geneticist or other specialty clinician experienced in managing children with Fabry disease is strongly indicated.

Objective: The objectives this study were to assess the role of third-trimester ultrasound in detection of fetal growth restriction associated with isolated single umbilical artery (SUA) and to correlate sonographic estimated fetal weight (EFW) with birth weight., Methods: A retrospective cohort study was performed from 2000 to 2009 at a single academic center. In fetuses with isolated SUA, EFW at follow-up, birth weight, gestational age (GA) at birth, and pregnancy outcome were compared with expected values derived from a statewide database. Categorical variables were analyzed with Fisher exact test, and t tests were used to compare distributions of birth outcomes to expected outcomes., Results: Two hundred twenty-five of 41,821 pregnancies had isolated SUA. One hundred ninety-one had available imaging and clinical data. Of 172 with third-trimester ultrasound, the mean EFW was 51st percentile; 4.7% were less than the 10th percentile for GA. Low birth weight (defined as <2500 g), preterm birth, and stillbirth were significantly more frequent in the cohort than in the state (17.3% vs 5.15%, 19.9% vs 8.0% and 3.5% vs 0.33%, respectively, P < 0.05). Mean birth weight in the cohort was significantly lower (2963 vs 3306 g, P < 0.001) than that in the state. Even in term births, the mean weight was significantly lower than that in the state (3169 vs 3379 g, P < 0.001). Cohort mean GA at birth was 38.1 versus 38.5 weeks in the state (P < 0.05)., Conclusions: Follow-up growth scans, as performed in this retrospective cohort study, did not reliably predict birth weight. Birth weight was reduced in the cohort even in the subgroup delivered at term.

Objective: The aim of this study was to describe the communication ability of individuals with trisomy 18 and trisomy 13 syndromes., Methods: Parents reported on children's potential communication acts, words, spontaneous gesture, and augmentative and alternative communication (AAC) using a parent report inventory (n = 32; age range 3-35 years). Potential communicative acts are defined as behaviors produced by an individual that may be interpreted by others to serve communicative functions., Results: Potential communicative acts categorized as body movement displayed the highest median rank for reported occurrence followed by vocalization and facial expression. Although symbolic forms were ranked lower, more than half of the parents (66%) reported that their children produced at least one word, gesture or AAC form. Challenging behaviors or stereotypic movement displayed lowest median ranks., Conclusions: Results are discussed in terms of communication potential and the need to address AAC in trisomy 18 and 13.

Background: The general public has numerous misconceptions and a lack of awareness and understanding regarding some of the prevalence, characteristics, and treatments of autism. As a result, education and awareness activities to increase the general public's understanding and awareness of autism are important. This study was conducted throughout Utah to inform public education and awareness efforts being planned as part of Utah's State Plan for Improving Outcomes for Individuals with Autism Spectrum Disorders and Development Disorders., Objective: The purpose of this study was to identify public awareness and knowledge of ASD in Utah, such as the public's understanding of the prevalence, characteristics, and treatments of autism, as well as the sources of this information., Methods: To identify public perceptions and attitudes of autism spectrum disorder, 1001 Utah residents 18 years of age or older were surveyed using a 32-question statewide random-digit dialed telephone survey., Results: The percentages of responses for 15 of the 20 autism-related questions are presented by ethnicity (Hispanic or Latino), education level, and income level., Conclusions: The study indicates that autism education efforts need to address the least understood aspects of autism; the causes of autism, how autism is diagnosed, and how autism is treated. Radio or TV outlets are more effective, particularly so with Hispanic or Latinos and populations with less education. Medical professionals are also an important resource for families with direct autism-related needs., (Copyright © 2013 Elsevier Inc. All rights reserved.)

Introduction: Using data from the 2004 Texas Behavioral Risk Factor Surveillance System, we investigated whether the physical activity behaviors of people with disabilities are related to their perceptions of the characteristics of the built environment and whether this relationship differs from that of people without disabilities., Methods: The research questions were, "Are perceived neighborhood characteristics and reported use of community facilities associated with reported leisure-time physical activity for adults aged 18 to 64 years with disabilities?"; "Are perceived neighborhood characteristics and reported use of community facilities associated with reported moderate to vigorous physical activity for adults with disabilities?"; and "To what extent do perceived neighborhood characteristics, reported use of community facilities, reported leisure-time physical activity, and reported moderate to vigorous physical activity differ between adults with disabilities and without disabilities?" We used logistic regression to analyze the responses., Results: People with disabilities were less likely to engage in leisure-time physical activity and meet recommendations for physical activity than people without disabilities. Participation of people with disabilities in leisure-time physical activity had significant correlations with positive perceptions of neighbors, physical activity, trails, parks, playgrounds, or sports fields, and with their use of private or membership-only recreation facilities. The presence of sidewalks was significantly related to whether people with disabilities met recommended levels of physical activity., Conclusion: Although people with disabilities engaged in less leisure-time physical activity and physical activity than people without disabilities, perceptions of the built environment and use of community facilities similarly affected people with and without disabilities.

Purpose: To investigate the potential influence of additional copy number variants in patients with 15q24 rearrangements and the possible underlying mechanisms for these rearrangements., Methods: Oligonucleotide-based chromosomal microarray analyses were performed, and the results were subsequently confirmed by fluorescence in situ hybridization analyses. Long-range polymerase chain reaction amplification and DNA sequencing analysis were used for breakpoint junction sequencing., Results: We describe a 15-year-old boy with cognitive impairment and dysmorphic features with deletions in 15q24 and 3q21, a 2-month-old female infant with growth deficiency, heterotaxy, cardiovascular malformations, intestinal atresia, and duplications in 15q24 and 16q22, and a 3.5-year-old boy with developmental delay, microcephaly, and dysmorphic features, with duplications in 15q24 and 2q36.3q37.1. Breakpoint sequencing for the 15q24 deletion in the first patient revealed microhomology and suggested the underlying mechanism of either nonhomologous end joining or fork stalling and template switching/microhomology-mediated break-induced replication., Conclusions: The three described patients with 15q24 rearrangements have copy number variants at other loci and exhibit additional clinical features with a more severe phenotype than that observed in previously reported patients with isolated 15q24 rearrangements, suggesting that the genomic mutational load may contribute to the phenotypic severity and variability in patients with 15q24 rearrangements.

The partitioning behavior of the polycyclic aromatic hydrocarbon (PAH) compounds naphthalene and phenanthrene with the temperate green seaweed Acrosiphonia coalita was characterized. The uptake and partitioning experiments were designed to prevent PAH volatilization, and the PAH concentration was measured in both the seawater liquid medium and in the algal biomass. Axenic microplantlets of A. coalita were used in all experiments to eliminate the possibility of microbial PAH biotransformation. Gas chromatography/mass spectrometry analysis did not reveal any putative metabolites of phenanthrene oxidative biotransformation in either the seawater medium or the algal biomass, but did show that dissolved organic matter from algal biomass constituents were in the liquid medium. The algal biomass grew by 30% over the 114h duration of the partitioning experiments, suggesting PAH compounds did not harm the organism. Both living and heat-killed microplantlets partitioned PAH compounds into the biomass. Naphthalene and phenanthrene reversibly partitioned into the lipid fraction of the algal biomass with equilibrium partitioning constants of 0.130+/-0.007 and 1.58+/-0.03Lg(-1) dry cell mass, respectively, which scaled proportionally to their octanol-water partitioning constants. The PAH material balance for the partitioning process closed between 86% and 100% for naphthalene adsorption and phenanthrene desorption, but closed at 52% for phenanthrene adsorption. To account for the loss, it was proposed that phenanthrene interacted with dissolved organic matter released by the living algal biomass. This study has provided fundamental information needed to assess how seaweeds can play a role in the bioaccumulation and bioremediation of PAH compounds in the marine environment.

Increasing rates of Clostridium difficile-associated diarrhoea (CDAD) with an unusual, severe course have been reported in Canada, USA and several European countries since 2003. A new virulent strain, PCR ribotype 027 (CD027), is associated with this increase. We report the first Danish case of CDAD caused by CD027. A 85-year-old woman was admitted to hospital with pneumonia. Following treatment initially with penicillin, secondly with moxifloxacin she developed bloody diarrhoea. A stool specimen showed CD027. She was treated with metronidazol for ten days and recovered completely.

Objectives: Minimal hepatic encephalopathy (MHE), the preclinical stage of overt hepatic encephalopathy (OHE), is a significant condition affecting up to 60% of cirrhotics. All MHE therapies modify gut microflora, but consensus regarding MHE treatment and long-term adherence studies is lacking. The aim was to determine the effect of probiotic supplementation in the form of a food item, probiotic yogurt, on MHE reversal and adherence., Methods: Nonalcoholic MHE cirrhotics (defined by a standard psychometric battery) were randomized with unblinded allocation to receive probiotic yogurt (with proven culture stability) or no treatment (no Rx) for 60 days in a 2:1 ratio. Quality of life (short form [SF]-36), adherence, venous ammonia, model of end-stage liver disease (MELD) scores, and inflammatory markers (tumor necrosis factor [TNF]-alpha, interleukin [IL]-6) were also measured. Outcomes were MHE reversal using blinded scoring, OHE development, and adherence., Results: Twenty-five patients (17 yogurt, 8 no Rx; 84% Child class A) were enrolled. A significantly higher percentage of yogurt patients reversed MHE compared to no Rx patients (71%vs 0%, P= 0.003, intention-to-treat). Yogurt patients demonstrated a significant improvement in number connection test-A (NCT-A), block design test (BDT), and digit symbol test (DST) compared to baseline/no Rx group. Twenty-five percent of no Rx versus 0% of yogurt patients developed OHE during the trial. Eighty-eight percent of yogurt patients were adherent. No adverse effects or change in covariates were observed. All patients who completed the yogurt arm were agreeable to continue yogurt for 6 months if needed., Conclusions: This trial demonstrated a significant rate of MHE reversal and excellent adherence in cirrhotics after probiotic yogurt supplementation with potential for long-term adherence.

A 59-year-old man suffered intermittently from pain in the right knee joint from 2002 following a jump from a vehicle. In September 2003 the joint was replaced with a prosthesis in a hospital abroad. However, nodes on a chest X-ray and epitheloid cell granulomas found in biopsies revealed an active state of sarcoidosis.

Introduction: Neuropsychological functioning connects neuropathology and symptoms in schizophrenia. Previous work suggests that deficient initiation and inhibition underlie the psychomotor poverty and disorganisation syndromes, respectively. Furthermore, although the syndromes are associated with impairments in everyday functioning, cognitive competency (CC; cognitive skills for independent living) has been neglected as an outcome. This study tested a three-level model of schizophrenia pathology (Neuropsychological dysfunction --> Syndromes --> CC), using unstructured neuropsychological tasks to measure initiation and inhibition., Methods: Participants were 40 adults with schizophrenia. A verbal picture description and the Tinkertoy test yielded initiation and inhibition measures with good interrater reliability. Symptoms were rated using the SANS and SAPS, and an insight scale was administered. The Cognitive Competency Test utilised simulated situations to assess CC., Results: Initiation failed to predict psychomotor poverty, but affected CC directly. Only one indicator of disinhibition (intermingling of personal material into speech) predicted disorganisation, which, through mediation, led to CC deficits. Insight correlated with disorganisation and contributed to CC. Unique effects of initiation, disorganisation, and insight, combined, explained 58% of CC variance., Conclusions: Partial support for the three-level model was obtained. Specific neuropsychological abilities and symptoms explain a substantial proportion of the variance in cognitive competency.

The purpose of this study was to evaluate the construct validity of the Continuous Attention Test for Children (the CAT), a clinical measure of vigilance. To examine convergent and discriminant validity, a multitrait-multimethod matrix was used. It was predicted that the CAT would correlate with other neuropsychological measures involving vigilance, but not with measures involving potential confounds (e.g., short-term memory). Participants were 47 children, aged 6 to 11, referred for neuropsychological assessment. Results partially supported discriminant validity, but convergent validity was weak. That is, findings suggest that the CAT measures an ability distinct from those assessed by some other popular tests involving vigilance. However, method-related confounds may remain. The CAT appears to add useful information in the context of clinical evaluations.

We report on a male infant with partial trisomy 2q (q34-->qter) resulting from a maternal pericentric inversion of chromosome 2 (p25. 2q34). The infant had clinical findings similar to the characteristic phenotype associated with a partial duplication of chromosome 2q3. Carriers of pericentric inversions of chromosome 2 have an increased risk of pregnancy loss but have only rarely been reported to have a liveborn offspring with an unbalanced chromosome constitution. This case further confirms the risks associated with a pericentric inversion of chromosome 2 and is the second report with manifestations of the trisomy 2q3 phenotype., (Copyright 2000 Wiley-Liss, Inc.)

We report on a case of cloverleaf skull deformity in a patient with hypochondroplasia, a disorder which has not been previously associated with this anomaly. Hypochondroplasia is a bone dysplasia caused by mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. Cloverleaf skull is a trilobar skull deformity which is etiologically and genetically heterogeneous and occurs in association with a number of disorders which result from mutations in the fibroblast growth factor receptor genes. Our patient demonstrated one of the common FGFR3 mutations identified in hypochondroplasia, a C-to-A change at nucleotide 1620 (C1620A) in the tyrosine kinase domain. The occurrence of a cloverleaf skull deformity appears to represent an example of variable expressivity in hypochondroplasia and suggests that additional factors other than a specific mutation can modify the phenotype in this disorder. In addition, identification of another FGFR mutation associated with cloverleaf skull further illustrates the genetic heterogeneity of this anomaly.

Using 6 years of observational and experimental data, we examined the hypothesis that water and nutrient stress increase the susceptibility of pinyon pine (Pinus edulis) to the stem- and cone-boring moth (Dioryctria albovittella). At two geographic levels, a local scale of 550 km 2 and a regional scale of 10,000 km 2 , moth herbivory was strongly correlated with an edaphic stress gradient. At a local scale, from the cinder soils of Sunset Crater to nearby sandy-loam soils, nine of ten soil macro- and micronutrients, and soil water content were lowest in cinder-dominated soils. Herbivore damage was six times greater on trees growing in the most water and nutrient deficient site at Sunset Crater compared to sites with well-developed soils. Percentage silt-clay content of soil, which was highly positively correlated with soil nutrient and soil moisture at a local scale, accounted for 56% of the variation in herbivory at a regional scale among 22 sites. Within and across sites, increased stem resin flow was positively associated with reduced moth attack. On the basis of moth distribution across a stress gradient, we predicted that pinyons growing in highly stressful environments would show increased resistance to herbivores if supplemented with water and/or nutrients. We conducted a 6-year experiment at a high-stress site where individual trees received water only, fertilizer only, and water + fertilizer. Relative to control trees, stem growth and resin flow increased in all three treatments, but only significantly in the water + fertilizer treatment. Although there was no significant difference in herbivore damage among these three treatments, there was an overall reduction in herbivore damage on all treatment trees combined, compared to control trees. This experiment suggests that release from stress leads to increased resistance to insect attack and is consistent with our observational data. While other studies have predicted that short-term stress will result in herbivore outbreaks, our studies extend this prediction to chronically stressed host populations. Finally, while flush-feeders are not predicted to respond positively to stressed host plants, we found a positive association between herbivore attack and stressed pinyon populations.

We examined the abundances of three common insect herbivores on pure and hybrid pinyon pines along a 250-km transect in west-central Arizona, United States. Using six morphological traits, we developed a hybrid index to classify trees as pure Pinus californiarum, hybrid, or pure Pinus edulis. The insects (the stem-boring moth, Dioryctria albovittella, the scale insect, Matsucoccus acalyptus, and several species of pitch moths that produce wounds on the trunk and branches) exhibited different distributional patterns across tree types. Stem-boring moths were significantly more abundant on trees at "hybrid" sites compared to trees at "pure" sites. In addition, within hybrid sites, hybrids supported significantly more moth larvae than pure trees of either species. These two patterns support the hybrid susceptibility hypothesis in which hybrid breakdown results in increased susceptibility to herbivory. In contrast to stem-borers, there were significantly more pitch moth wounds on trees at pure P. californiarum sites than at hybrid and pure P. edulis sites. Within the hybrid zone, pitch moth abundance was equal on pure P. californiarum and hybrids, and both were significantly greater than on pure P. edulis. These within-site comparisons support the dominance hypothesis where hybrid resistance differs from one tree species, but not the other. Scale insects exhibited the most restricted distribution; over the 250 km transect they were found only in the hybrid zone. This supports the hybrid susceptibility and/or the stress hypothesis (i.e., species at the edge of their range suffer greater stress and are more susceptible to herbivory). We summed the mean numbers of these three common herbivores across sites and found that hybrid sites supported 2.1 and 3.9 times more herbivores than pure P. californiarum and P. edulis sites, respectively. Furthermore, tree mortality was on average, 35 times greater within the hybrid zone compared to pure zones of each species and was associated with the cumulative abundance of herbivores (r 2 =0.646). Regardless of whether this mortality is due to insect infestation, stress or a combination of both, these results suggest that hybrid zones are important arenas of natural selection.

Olfactory preferences of two-week-old bottle-fed infants were assessed in a series of simultaneous two-choice tests. Infants of each sex displayed preferential orientation to a stimulus pad worn on their mother's breast over a clean control pad. When maternal breast odor was paired with the odor of the infants' formula, however, boys spent more time oriented toward the formula odor, whereas girls evinced no reliable preferences. Although the subject infants had no prior direct contact with odors emanating from the breasts of lactating females, but had recurring reinforced exposure to the odor of their familiar formula (in the context of feeding), the former scents elicited a more positive response. Preferential orientation to lactating-breast odors reflects adaptive inborn attraction to cues associated with the natural food source for human neonates.

Arizona's Sunset Crater began erupting in 1064 AD and for the next 200 years buried over 2,000 km 2 in ash, cinders, and lava. Soil analyses indicate that pinyon pines (Pinus edulis) currently colonizing the cinder fields are faced with a highly stressful environment. Many of these pinyons suffer chronic, intense insect herbivory that reduces plant growth and eliminates female cone production. In contrast, herbivory among pinyons growing in neighboring sandy-loam soils is minimal. Furthermore, numerous trees within the heavily infested cinder field population suffer relatively low herbivory and maintain normal growth and reproduction. We used four polymorphic enzymes to examine the relationship between herbivore attack, environmental stress and genotypes of the adjacent cinder field, and sandy-loam soil pinyon populations. Our results demonstrate that 1) resistant trees display significant genetic differences and are more heterozygous for two enzymes associated with herbivory than susceptible trees; and 2) the cinder-soil pinyons exhibit significant genetic differences and are more heterozygous for an enzyme associated with environmental stress than the neighboring sandy-loam soil pinyons. We conclude that heterozygosity of specific or closely linked loci may facilitate pinyon resistance to herbivory and environmental stress, and that strong selection across narrow geographic boundaries resulted in rapid genetic differentiation of pinyon populations., (© 1991 The Society for the Study of Evolution.)

The influences of Colorado pinyon pine (Pinus edulis) cone crop size, cone and seed weight, cone length, number of seeds per cone, number of viable seeds, and percent viable seeds on the foraging behavior of avian seed dispersal agents were examined in field and laboratory settings. In the field, there was a significant positive relationship between cone number per tree and both the absolute number of cones and the percentage of the cone crop from which seeds were harvested. Cone weight and the number of viable seeds were also significantly related to seed harvest intensity. Laboratory experiments examined the relationship between crop size and cone characters on seed harvest by 18 Clark's Nutcrackers (Nucifraga columbiana). Nutcrackers were offered a choice of two tree types: one with 20 cones attached, and another with 10 cones attached. Significantly more birds chose to remove seeds first from the tree with 20 cones than the tree with 10 cones. In timed trials, they also harvested seeds from significantly more cones on the tree with the higher cone density. In the laboratory, cones chosen for seed removal by the nutcrackers had significantly more viable seeds, more seeds, and were longer compared to cones that were not chosen. Such discriminatory foraging behavior may increase avian foraging efficiency and result in differential reproductive success of pinyon pines. This behavior may therefore influence the evolution of pinyon pine reproductive traits.

Teachers of the deaf are challenged to facilitate maximum cognitive and linguistic growth in each student. Often these teachers are not given models to use in assessment and classroom intervention practice with their students. This article suggests that a Piagetian approach to education of the deaf can be applied to other bodies of research to understand what occurs as a deaf child comes to a point of knowledge. The article reviews current research in language acquisition and cognitive development. It makes suggestions for the application of this research to education of the deaf.

The level of aspiration and performance was examined for 25 male psychiatric inpatients whose mean age was 57.4 yr. and mean length of hospitalization was 23.6 yr. For a simple motor task involving flipping a plastic chip over a goal line, each patient expressed the ward and his personal pretask levels of aspiration, performed the task, and expressed his personal posttask aspiration. The expressions of both the ward and pretask levels of aspiration were less than the mean score of a nonhospitalized referent group. Both performance and posttask levels of aspiration were greater than the pretask level. More patients predicted they would perform worse than the other patients on the ward than predicted they would perform better. The patients appropriately shifted their levels of aspiration either up after success or down after failure. The results were discussed according to expectations from classical theory as well as findings with schizophrenics. Implications for further research were discussed.

Antibodies to pigeon antigens were determined by double immunodiffusion and ELISA in 80 pigeon breeders without pigeon breeder's disease. Precipitating antibodies to pigeon serum and droppings were found in 5 and 8%, respectively, of 39 breeders who were smokers and in 46 and 51%, respectively, of 41 breeders who were nonsmokers (p less than 0.001). By ELISA, IgG antibodies to pigeon serum and droppings were detected in 44 and 54%, respectively, of smokers and in 81 and 85%, respectively, of nonsmokers (p less than 0.01). The antibody titres were generally higher in nonsmokers than in smokers. These findings may partly explain why allergic alveolitis occurs most often in nonsmokers.

The authors provide a glimpse into the world of congenitally deaf-blind children and how the application of technology might enable them to lead more productive lives. They describe this population and then summarize the present status of efforts to educate and communicate with them. A review of technological devices presently usable and potentially usable to complement these efforts is given. The authors conclude with a list of technological tools that are needed for communication with deaf-blind persons.

Antibodies to whole pigeon serum (PS) and pigeon dropping extract (PDE) were investigated in pigeon breeders and controls by an enzyme-linked immunosorbent assay (ELISA). The optimal antigen concentration was in the range of 3-30 microgram protein/ml for both PS and PDE. PDE antibody titres greater than or equal to 10240 were found in three (75%) of four patients with pigeon breeders' disease (PBD) and in 19 (13.6%) of 140 other pigeon breeders (P = 0.011). PS antibody titres greater than or equal to 10240 occurred in all four (100%) PBD patients and in only seven (5.0%) of 140 other breeders (P = 0.0002). In 85 blood donors antibodies in low titres against PS and PDE occurred in 4.7% and 7.1%, respectively. By immunodiffusion three or more precipitin lines were found more often in PBD patients than in other breeders (P = 0.0006), and the highest ELISA antibody titres occurred in patients with precipitating antibodies. No correlation between P blood group phenotypes or anti-P1 antibodies and respiratory symptoms or antibodies to pigeon antigens could be demonstrated.