A case of disproportionate macrodactyly or a mild form of Proteus syndrome? An interesting case

We present a 20-year-old Malay male whom we believe has Proteus syndrome, a rare congenital disorder of asymmetrical overgrowth of body tissues. There are fewer than 100 confirmed cases reported worldwide thus the clinical presentation and histopathological findings are of significance. Our patient presented with an overgrown right small finger and subcutaneous purplish pigmentation over his left upper arm and chest since birth. His small finger gradually increased in size. He had no abnormalities in sensation or power. Radiographs revealed a delta shaped middle phalanx of the small finger. His activities of daily living were uninterrupted but he requested debulking surgery for cosmetic reasons. Histopathological examination reported hypertrophic fatty tissue composed of well formed lobules of mature adipocytes interspersed with fibrous elements.     

Schizophrenia and smoking: Evidence for a common neurobiological basis?

Several previous investigations have suggested that the gene for the α7‐nicotinic receptor may play a role in the pathogenesis of schizophrenia and may be responsible for the heavy smoking among schizophrenic patients. In a study of 129 healthy controls and 127 schizophrenic, schizoaffective, and bipolar patients we have aimed 1) to confirm the potential association between schizophrenia and the α7‐nicotinic receptor, 2) to test the diagnostic specificity of α7‐receptor subunits with respect to psychiatric diagnoses, and 3) to investigate potential receptor differences between smokers and nonsmokers in the general population. Our analysis included the two dinucleotide polymorphisms D15S1360 and L76630 that are localized in a genomic fragment containing the α7‐nicotinic receptor gene CHRNA7. Highly significant differences (P < 0.0001) between the allele distributions of patients and controls were detected for these two markers with all three diagnostic subgroups contributing to the discrimination. An independently ascertained replication sample of 24 patients confirmed this finding. Our results suggested an unspecific vulnerability that depended on the severity of overall psychopathology in terms of the co‐occurrence of psychopathology with no clear‐cut boundary between the diagnostic entities. In comparison with healthy controls, this vulnerability was lowest among schizophrenics, intermediate among bipolars, and highest among schizoaffectives. As to the question of α7‐receptor differences between smokers and nonsmokers among the healthy control subjects, our analysis revealed no significant differences, thus indicating that the differences between patients and controls are more than just a smoker/nonsmoker distinction. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:173–177, 2000. © 2000 Wiley‐Liss, Inc.     

A case of prevailing deficit of nonliving categories or a case of prevailing sparing of living categories?

We describe a new case of semantic deficit in which nonliving categories are disproportionately impaired. PL, a woman affected by progressive degeneration of the left temporal lobe, was examined twice, at a distance of 1 year. The deficit was first apparent on naming and on a verbal semantic questionnaire, but a year later nonliving categories were disproportionately affected also on verbal comprehension (word/picture matching task). Body parts and musical instruments were also investigated: the former was the best preserved category, whereas the latter was the most severely affected. Considering all categories, functional and perceptual information was not differently affected, but there was a trend toward a worse score for nonliving category functional questions. Discussing the current hypotheses on the genesis of category dissociations, we conclude that nonliving categories might not be a true domain, and that their impairment could simply derive from the relative sparing of the domains of the living categories, for which separate cognitive and anatomical representations can be better postulated. Finally, we discuss the problems raised by published cases in an attempt to find a consistent anatomical substrate for category dissociations.     

Do we have a common mechanism for measuring time in the hundreds of millisecond range? Evidence from multiple-interval timing tasks

In the present study we examined the performance variability of a group of 13 subjects in eight different tasks that involved the processing of temporal intervals in the subsecond range. These tasks differed in their sensorimotor processing (S; perception vs. production), the modality of the stimuli used to define the intervals (M; auditory vs. visual), and the number of intervals (N; one or four). Different analytical techniques were used to determine the existence of a central or distributed timing mechanism across tasks. The results showed a linear increase in performance variability as a function of the interval duration in all tasks. However, this compliance of the scalar property of interval timing was accompanied by a strong effect of S, N, and M and the interaction between these variables on the subjects' temporal accuracy. Thus the performance variability was larger not only in perceptual tasks than that in motor-timing tasks, but also using visual rather than auditory stimuli, and decreased as a function of the number of intervals. These results suggest the existence of a partially overlapping distributed mechanism underlying the ability to quantify time in different contexts.     

The “living things” impairment and the nature of semantic memory organisation: An experimental study using PI-release and semantic cues

The present paper evaluated categorical and featural proposals of memory organisation, for explaining the living/nonliving things dissociation observed in semantic memory. The experimental study used the Release from Proactive Interference (PI-release) paradigm. Normal subjects were tested with this task using word vs. picture stimuli in a standard taxonomical PI-release condition (i.e., nonliving to living things) and in a cue condition with attributes that run opposite to the taxonomical shift. Experiments 1 and 2 cued functional attributes (means of transportation; dangerousness), and experiments 3 and 4 cued perceptual attributes (size; number of legs). The overall pattern of PI-release emphasizes the role of functional attributes and the role of structural processing to semantic processing. Implications for the different proposals presented, including possible alternative accounts of the results, are also discussed.     

Who put the self in self-organization? A clarification of terms and concepts for developmental psychopathology

The term self-organization has at least two meanings for developmental psychopathologists: the spontaneous emergence of order in developing systems and the consolidation of that part of the person called the self. The first meaning is shared across the sciences at large, and it denotes a general model of change and growth in complex systems. We review principles of self-organization from the natural sciences and discuss their application to the study of human development. We then suggest possible sources and consequences of terminological confusion in developmental psychology and offer some potential resolutions. The "self" in self-organization seems a special case of this confusion, and it can be addressed by modeling the self as both autonomous agent and emergent form. We outline preliminary directions for this modeling and then go on to a more general discussion of how principles of self-organization can help bring developmental psychopathology closer to its goals.     

A review of the genetic epidemiology of resistance to parasitic disease and atopic asthma: common variants for common phenotypes?

PURPOSE OF REVIEW: An inverse relationship between resistance to certain parasitic diseases and measures of atopy and asthma has long been observed. A possible explanation is that genetic determinants which confer protection against detrimental worm burdens are the same determinants involved in atopic asthma. The focus of this review is to consider the potential candidate genes that have been elucidated as part of molecular, genomic and genetic studies of parasite biology, host-parasite interactions and classic genetic epidemiology studies on parasitic disease and allergic asthma. RECENT FINDINGS: Comparative studies of the Plasmodium and Schistosoma spp. genomes have revealed a number of proteins that are homologous to humans. A number of linkage and association studies on susceptibility/resistance to parasitic diseases, including malaria and schistosomiasis, overlap with associations that have been identified for susceptibility to atopy and asthma. SUMMARY: In response to parasitic approaches in maintaining survival, the human host has evolved genetic adaptations that minimize severe manifestations of disease, which conversely appear to contribute to allergic disease. A clearer understanding of this process will elucidate the complex pathways and mechanisms involved in these traits.     

Does a warning signal accelerate the processing of sensory information? Evidence from recognition potential responses to high and low frequency words.

Electrophysiological and behavioral data were obtained in 12 subjects who detected valid words in a background stream of random letter strings. Behavioral reaction time (RT) showed significant effects of warning signal presentation and the frequency of word usage in printed literature. Cross-correlation functions were used to estimate delays of electrophysiological responses. The critical response was the recognition potential (RP). The RP is a response of the brain that occurs when a person views recognizable images, such as words, pictures, or faces. Its latency is usually less than 300 ms. Both the RP and longer latency activity occurring at approximately 400--600 ms were delayed more for low than for high frequency words. The longer latency responses showed shorter delay if a warning signal was presented, but the RP did not. The results supported the idea that a non-informative warning signal decreases RT by altering response-related processes without facilitating sensory processes.     

Exercise and the immune system: a model of the stress response?

Exercise influences natural immunity, T- and B-cell functions, and cytokine responses, through circulatory (hemodynamic) changes and by endocrine hormones secreted in response to physical stress. The magnitude of the effects on the immune system reflects the intensity, duration and chronicity of the exercise. In this review, Laurie Hoffman-Goetz and Bente KlarlundPedersen suggest that exercise-immune interactions can be viewed as a subset of stress immunology.     

Aging of the immune system: a risk factor for autoimmunity?

Aging of the immune system, or immunosenescence, is characterized by changes in T cell subsets, cellular and molecular level alterations and thymic atrophy, resulting in a decline of T and B cell function. These alterations have been shown to be accompanied by a loss of ability to recognize "self" and "foreign" antigens. Therefore the development of autoimmune responses like production of autoantibodies has been hypothesized to be secondary to thymus involution with a decline of na?ve T cells and accumulation of clonal T cells with activation due to "neoantigens" during the aging process. Altered apoptosis and altered T cell homeostasis have been emphasized to promote a chronic inflammatory state and lead to the concept of a immune-risk phenotype. However, it has to be proven which kinds of mechanisms turn the immune system to manifest autoimmune disease and how speculated defects in T cell differentiation and interaction leading to premature aging of the immune system may contribute to the development of autoimmune diseases.     

The success of a management information system in health care – A case study from Finland

PurposeThe purpose of this article is to describe perspectives on information availability and information use among users of a management information system in one specialized health care organization. The management information system (MIS) is defined as the information system that provides management with information about financial and operational aspects of hospital management.MethodsThe material for this qualitative case study was gathered by semi-structured interviews. The interviewees were purposefully selected from one specialized health care organization. The organization has developed its management information system in recent years. Altogether 13 front-line, middle and top-level managers were interviewed. The two themes discussed were information availability and information use. The data were analyzed using inductive content analysis using ATLAS.ti computer program.ResultsThe main category “usage of management information system” consisted of four sub-categories: (1) system quality, (2) information quality, (3) use and user satisfaction and (4) development of information culture.ConclusionsThere were many organizational and cultural aspects which influence the use of MIS in addition to factors concerning system usability and users. The connection between information culture and information use was recognized and the managers proposed numerous ways to increase the use of information in management work. The implementation and use of management information system did not seem to be planned as an essential tool in strategic information management in the health care organization studied.     

A target sample of adolescents and reward processing: same neural and behavioral correlates engaged in common paradigms?

Adolescence is a transition period that is assumed to be characterized by increased sensitivity to reward. While there is growing research on reward processing in adolescents, investigations into the engagement of brain regions under different reward-related conditions in one sample of healthy adolescents, especially in a target age group, are missing. We aimed to identify brain regions preferentially activated in a reaction time task (monetary incentive delay (MID) task) and a simple guessing task (SGT) in a sample of 14-year-old adolescents (N?=?54) using two commonly used reward paradigms. Functional magnetic resonance imaging was employed during the MID with big versus small versus no win conditions and the SGT with big versus small win and big versus small loss conditions. Analyses focused on changes in blood oxygen level?Cdependent contrasts during reward and punishment processing in anticipation and feedback phases. We found clear magnitude-sensitive response in reward-related brain regions such as the ventral striatum during anticipation in the MID task, but not in the SGT. This was also true for reaction times. The feedback phase showed clear reward-related, but magnitude-independent, response patterns, for example in the anterior cingulate cortex, in both tasks. Our findings highlight neural and behavioral response patterns engaged in two different reward paradigms in one sample of 14-year-old healthy adolescents and might be important for reference in future studies investigating reward and punishment processing in a target age group.     

Is living alone a risk factor of frailty? A systematic review and meta-analysis

ObjectivesTo examine the association of living alone with frailty in cross-sectional and longitudinal studies by a systematic review and meta-analysis.DesignSystematic review and meta-analysis.Setting and participantsCommunity-dwelling older adults with a mean age of >60 years.MethodsA systematic search of the literature was conducted according to the PRISMA guidelines. We searched PubMed in February 2019 without language restriction for cohort studies that examined the associations between living alone and frailty. The reference lists of the relevant articles and the included articles were reviewed for additional studies. We calculated pooled odds ratios (OR) of the presence and incidence of frailty for living alone from cross-sectional and longitudinal studies.ResultsAmong the 203 studies identified, data of 44 cross-sectional studies (46 cohorts) and 6 longitudinal studies were included in this review. The meta-analysis showed that older adults living alone were more likely to be frail than those who were not (46 cohorts: pooled OR = 1.28, 95 % confidence interval (CI) = 1.13–1.45, p < 0.001). Gender-stratified analysis showed that only men living alone were at an increased risk of being frail (20 cohorts: pooled OR = 1.71, 95 %CI = 1.49–1.96), while women were not (22 cohorts: pooled OR = 1.00, 95 %CI = 0.83–1.20). No significant association was observed in a meta-analysis of longitudinal studies (6 cohorts: pooled OR = 0.88, 95 %CI = 0.76–1.03).Conclusions/ImplicationsThe present systematic review and meta-analysis showed a significant cross-sectional association between living alone and frailty, especially in men. However, living alone did not predict incident frailty. More studies controlling for important confounders, such as social networks, are needed to further enhance our understanding of how living alone is associated with frailty among older adults.     

Are the CSF levels of 24S-hydroxycholesterol a sensitive biomarker for mild cognitive impairment?

There is a need for effective biomarkers showing whether or not a patient with mild cognitive impairment (MCI) will progress to Alzheimer's disease (AD) with dementia. At the present three cerebrospinal fluid (CSF) biomarkers are in general use: total tau, phospho-tau and beta-Amyloid. These markers are regarded to have high capacity to differentiate early AD from normal ageing. We have analysed CSF levels of a new marker for neuronal degeneration, 24S-hydroxycholesterol (24OHC) in patients with MCI. For reasons of comparison, we also analysed these levels in patients with AD. There was a significant correlation between CSF levels of 24OHC and total tau (as well as phospho-tau) in both groups of patients. Fifty percent of the patients contemplated for MCI were found to have elevated levels of 24OHC (using a 95th upper percentile set cut-off). All the MCI patients with normal levels of 24OHC had normal levels of the other markers. In patients with AD, the percentages of those with increased levels of 24OHC, tau and phospho tau were similar (55-67%). In this pilot study, we discuss the possibility that 24OHC may be a sensitive test for MCI.     

Are the Effects of Cognitive Behavior Therapy for Depression Falling? Review and Critique of the Evidence

Johnsen and Friborg (Psychological Bulletin 2015; doi: 10.1037/bul0000015 ) report that modern cognitive behavior therapy (CBT) clinical trials yield less relief from depression compared to seminal trials, but methodological limitations may qualify the conclusions. Given the empirical support for CBT for depression, a closer look is warranted. High I² coefficients were reported for a subgroup analysis, and no heterogeneity estimates were reported for the primary analyses, raising concerns about the appropriateness of meta‐analysis and interpretations of the findings. Concerns are raised about the presence of CBT in comparison groups. Data regarding CBT competence were largely missing, and fidelity data were often absent. Without these data, attributions about changes in effect sizes from early studies may be premature. The proliferation of CBT may have been accompanied by modifications to the model, accompanied by variability in quality, adherence, and competence. A call to high‐fidelity and high‐quality CBT is made.     

Why did the scale-up of HIV treatment work? A case example from Malawi

The national scale-up of antiretroviral therapy (ART) in Malawi is based on a public health approach, with principles and practices borrowed from the successful DOTS (directly observed treatment short course-the system used to successfully deliver antituberculosis treatment to people in some of the poorest countries of the world) tuberculosis control framework. During the first 6 years, the number of patients registered on treatment increased from 3000 to >350,000 in both the public and private sectors. The most important reasons for this success have been strong international and national leadership combined with adequate funds, a standardized approach to ART with practical guidelines, an approved national scale-up plan with clear, time-bound milestones; investment in an intensive program of training and accreditation of ART sites, quarterly supervision and monitoring of ART and operational research, rational drug forecasting and no stock-outs of drugs during the first few years, and involvement of the private sector. The looming challenges of human resources, guaranteed financial support, better but also more expensive ART regimens, use of electronic medical records to monitor response to therapy, and attention to HIV prevention need to be met head-on and solved if the momentum of the earlier years is to be maintained.