Miracle-dz/UniFAR-FTUs huggingface dataset:
Phenylalanine Hydroxylase Gene Mutation R408W Is Present on 84% of Estonian Phenylketonuria Chromosomes

Phenylalanine hydroxylase (PAH) is the enzyme which converts phenylalanine into tyrosine. In case of its deficiency, hyperphenylalaninemia is observed, which leads to phenylketonuria (PKU), a disease causing mental retardation, unless treated with a low-phenylalanine diet since early childhood. In Estonia, PKU is among the most common inherited metabolic diseases. The data from retrospective study and newborn screening show an approximate incidence of 1 in 6,000 newborns. Molecular analysis of 34 Estonian patients has revealed high genotypic homogeneity in this group, as 84% of the mutant alleles carry the R408W mutation. The high rate of this mutation in the Estonian population rises the speculation of Finno-Ugric contribution to the East European pool of mutant PAH alleles. Five more mutations — IVS12ntl, R261Q, R252W, R158Q, S349P — have been detected. The mutation detection rate was 92% among the studied patients.
Who is pre‐occupied with sleep? A comparison of attention bias in people with psychophysiological insomnia, delayed sleep phase syndrome and good sleepers using the induced change blindness paradigm

Cognitive models of insomnia suggest that selective attention may be involved in maintaining the disorder. However, direct assessment of selective attention is limited. Using the inducing change blindness (ICB) paradigm we aimed to determine whether there is attentional preference for sleep‐related stimuli in psychophysiological insomnia (PI) relative to delayed sleep phase syndrome (DSPS) and good sleepers (GS). In the ICB task, a visual scene, comprising both sleep‐related and neutral stimuli, ‘flickers’ back and forth with one element (sleep or neutral) of the scene changing between presentations. Therefore, a 2 × 3 totally between‐participants design was employed. The dependent variable was the number of flickers it took for the participant to identify the change. Ninety individuals (30 per group) were classified using ICSD‐R criteria, self‐report diaries and wrist actigraphy. As predicted, PI detected a sleep‐related change significantly quicker than DSPS and GS, and significantly quicker than a sleep‐neutral change. Unexpectedly, DSPS detected a sleep‐related change significantly quicker than GS. No other differences were observed between the two controls. These results support the notion that there is an attention bias to sleep stimuli in PI, suggesting that selective attention tasks such as the ICB may be a useful objective index of cognitive arousal in insomnia. The results also suggest that there may be an element of sleep preoccupation associated with DSPS. Results are discussed with reference to other experiments on attentional processing in insomnia.
Remote Indigenous housing procurement and post-occupancy outcomes: a comparative study

The project found that the way contracts for procurement are designed can play an important role in enhancing or creating positive social and economic outcomes (such as employment, education and community capacity building) as part of the construction process. By contrast, mainstream housing procurement contracts driven by economic imperatives (including minimising financial risk and maximising financial gain in set timeframes) will do little to contribute towards achievement of these outcomes in what are largely unskilled, highly mobile labour markets of remote Indigenous settlements. In the design of procurement contracts, a number of factors can contribute to positive outcomes that are sustainable and have a longer-term legacy. These include: Devising appropriate timeframes for staging of projects so that apprentices can finish their training over the course of one project rather than have to pick up work elsewhere to complete training. Taking account of the specific social and environmental context (e.g. one project failed to take account of appropriate design for people with disabilities even though it emerged as an issue after the houses had been built). Allowing for flexibility in contracting through ‘alliancing’ or ‘partnering’ so that risks (e.g. associated with a transient or a truant labour force) are appropriately shared. Ensuring meaningful community engagement early in the project so that the community has a high sense of ownership over the end product, people are involved in capacity building and the design is appropriate to their needs. Establishing supportive organisational cultures, which involve amongst other things, good communication between tiers of government departments and those undertaking grass-roots activities, and resourcing local organisations not adequately skilled or equipped to take on larger projects. More Information Positioning Paper: No. 129: Remote Indigenous housing procurement and post-occupancy outcomes: a comparative study 519 KB PDF Document Final Report: No. 167: Remote Indigenous housing procurement: a comparative study 5.6 MB PDF Document Research and Policy Bulletin: Issue 152: Building new housing in remote Indigenous communities 384 KB PDF Document
Prevalence of fertility desire and its associated factors among 15- to 49-year-old people living with HIV/AIDS in Addis Ababa, Ethiopia: a cross-sectional study design

Background The magnitude of unprotected sex to satisfy the desire for fertility among people living with HIV/AIDS (PLHIV) may rise more due to the availability of antiretroviral therapy (ART) in most HIV-affected countries. This could, however, have the risk of passing on HIV to sexual partners and children. The aim of this study, therefore, was to determine the magnitude and factors associated with the fertility desire of reproductive-age PLHIV in Addis Ababa, Ethiopia, for research-based and timely actions. Methods A cross-sectional study was carried out from April to June 2016 among 442 randomly selected, reproductive-age PLHIV who had been attending ART clinics in Addis Ababa. Twelve experienced and trained nurses collected the data. The questionnaire was pretested and interviewer-administered, and the interview was executed after obtaining voluntary consent from each study subject. The data were then cleaned and analyzed by using Epi Info version 3.5. 4 and SPSS version 20.0, respectively. Binary logistic regression was done in order to describe the association of fertility desire with some sociodemographic and sexual behavior-related factors. Results Among the total 441 respondents, 54.6% reported the desire for fertility, 87% disclosed their HIV status, 24.3% had two or more sexual partners in the earlier year, and only 55.6% used a condom during their last sexual intercourse. In addition, current health status (AOR=2.03; 95% CI: 1.01–4.07) and partner being tested for HIV (AOR=6.31; 95% CI: 1.35–29.64) showed statistically significant associations with fertility desire during multivariate logistic regression analysis. Conclusion A considerable number of PLHIV in the study area reported a desire for having children. Current health status and partner being tested for HIV were found to be factors associated with the fertility desire among PLHIV. Thus, more efforts to effectively address the health concerns related to fertility desire and risky sexual behavior among HIV-infected people of reproductive age could play a significant role in prevention and control measures against HIV/AIDS epidemic.
Image Object Recognition Based on Biologically Inspired Hierarchical Temporal Memory Model and Its Application to the USPS Database

In the paper we describe basic functions of a Hierarchical Temporal Memory (HTM) based on a novel biologically inspired network model of the overall large-scale structure of human neocortex. It appeared in a form of research release of the system NuPIC (Numenta Platform for Intelligent Computing) in 2007. In the design of the HTM, hierarchical structure and spatio-temporal relations serve for generation of invariant representations of the outer world (e.g. world of visual patterns), similar to those in human neocortex. There are several open issues for a research into HTM, in particular those applied to pattern recognition tasks. In the paper we report our results of the HTM architecture design and optimization of the network parameters for the task of recognition of the handwritten digits from the well benchmarked USPS database.
Relationship between prosthesis-patient mismatch and pro-brain natriuretic peptides after aortic valve replacement.

BACKGROUND AND AIM OF THE STUDY It has been shown previously that elevated plasma levels of B-type natriuretic peptide (BNP) and its N-terminal fragment (NT-pro-BNP) are related to the degree and progression of native aortic valve disease. In addition, NT-pro-BNP levels have been shown to decrease after successful aortic valve replacement (AVR). The presence of a valve prosthesis-patient mismatch (PPM) may affect the beneficial effects of AVR, however. The study aim was to investigate the relationship between PPM and NT-pro-BNP plasma levels late after AVR. METHODS A series of consecutive patients (42 males, 31 females; mean age 66 +/- 13 years) who had undergone isolated AVR between May 2004 and July 2007 was enrolled into the study. Patients with preoperative moderate to severe mitral regurgitation, coronary artery disease, left ventricular (LV) dysfunction (ejection fraction <45%) and serum creatinine >150 mmol/l were excluded. PPM was defined severe as an indexed effective orifice area (EOAi) < or = 0.65 cm2/m2, or moderate when the EOAi was 0.66-0.85 cm2/m2. Plasma NT-pro-BNP levels and echocardiographic assessments were performed in all patients during routine follow up after surgery. RESULTS The patients received either a biological (n = 42) or mechanical (n = 31) prosthesis. Among the patients, 21 had no PPM, 27 moderate PPM, and 25 severe PPM. At a median follow up of 18 months, the mean NT-pro-BNP plasma level was 532 pg/ml (95% CI: 393.1-671.6), and the mean LV mass index (LVMI) 120 +/- 4 g/m2, the LVEF 60 +/- 1%, the peak aortic prosthesis gradient 28 +/- 2 mmHg, and the EOAi 0.74 +/- 0.02 cm2/m2. Multivariate statistical analysis showed that NT-pro-BNP level correlated with age (beta = 0.57, p<0.0001), LVMI (beta = 0.32, p = 0.02), NYHA class (beta = 0.50, p = 0.003) and EOAi (beta = -0.38, p = 0.02). CONCLUSION The study results showed that NT-pro-BNP levels were independently related to PPM late after isolated AVR in patients with preserved LV function. However, further investigations are required to confirm these findings and to identify their clinical implications.
Phase II Study of a 3-Week Schedule of Irinotecan Combined with Cisplatin in Previously Untreated Extensive-Stage Small-Cell Lung Cancer

Background: Irinotecan has been introduced to improve the treatment of small-cell lung cancer (SCLC). We conducted a trial involving a 3-week schedule of irinotecan combined with cisplatin (IP) to validate the efficacy and toxicity of this regimen in patients with previously untreated extensive-stage SCLC (ES-SCLC). Patients and Methods: Twenty-eight patients with previously untreated ES-SCLC were enrolled in the study between January 2003 and December 2005. Irinotecan 60 mg/m2 was administered intravenously on days 1 and 8 in combination with cisplatin 60 mg/m2 on day 1 every 21 days. Results: Twenty-eight patients were followed until July 2007. The median follow-up time was 15.6 months. The actual dose intensities (DIs) of cisplatin and irinotecan were 97.7 and 92.2%, respectively. Among the 28 ES-SCLC patients, the objective response rate was 89.3% (25 patients). The major grade 3/4 hematological toxicity was neutropenia (26.9% of cycles). Grade 3/4 non-hematological toxicities were rare. The median progression-free and overall survival times were 8.7 and 16.5 months, with a 1-year survival rate of 66.6% and 2-year survival rate of 22.2%. Conclusion: The 3-week schedule of IP was feasible and showed a high DI of irinotecan and decreased toxicity.
Dexamethasone regulation of plasminogen activator in embryonic and tumor-derived human cells.

Plasminogen activator (PA) activity in human polymorphonuclear leukocytes and embryonic lung cell cultures is reduced substantially following treatment with glucocorticoids such as dexamethasone. To determine whether tumor-derived cells responded similarly, we compared the effect of dexamethasone on the PA activity of a variety of tumor-derived and embryonic cell cultures. These cultures produced either exclusively M.W. 55,000 to 60,000 urokinase-like PA, exclusively M.W. 73,000 anti-urokinase immunoglobulin-resistant PA, or a mixture of both types of enzyme. Treatment of embryonic human lung, kidney, and uveal melanocyte cell cultures with 10-7 m dexamethasone strongly inhibited both extracellular and cell-associated PA activity. One lung adenocarcinoma-derived and two renal carcinoma-derived cell cultures also showed substantial inhibition of PA activity under these conditions. In contrast, treatment of six independently isolated, melanoma-derived cultures with 10-7 m dexamethasone produced no detectable inhibition of either extracellular or cell-associated PA activity. All six melanoma-derived cultures produced exclusively or principally the M.W. 73,000-type PA. [3H]Dexamethasone-binding assays indicated that the content and size of the cytoplasmic dexamethasone-binding protein were similar in both melanoma-derived and embryonic lung cultures. Our in vitro results suggest that, in vivo , physiological concentrations of glucocorticoids will inhibit the PA activity expressed by many embryonic and several tumor-derived cell types but not that expressed by the melanoma-derived cells.
The McCanse Readiness for Death Instrument (MRDI): a reliable and valid measure for hospice care.

The purpose of this study was to establish whether or not readiness for death, as an indicator of healthy dying, is a measurable concept. Review of relevant literature revealed consensus regarding the universality of a human need for healthy dying. A theory of healthy dying was derived from the Rogerian paradigm. The McCanse Readiness for Death Instrument (MRDI) was constructed, which included indicators of physiological, psychological, sociological, and spiritual aspects of "healthy" field pattern as death is developmentally approached. The MRDI was a 26-item structured interview questionnaire which generated interval-ratio data through a visual analog scale. A pretest was conducted with a sample of 9 volunteer patients drawn from a small suburban outpatient hospice. The MRDI was concurrently administered to dying individuals, their primary caregivers, and their primary hospice nurses. Correlations between dying individuals' scores and their primary caregivers' estimates of patient death readiness as well as between patients and their primary hospice nurses were very encouraging. Cronbach's coefficient alpha for internal consistency reliability was . 59. Content validity was supported by consensus of an expert panel of practicing hospice nurses. Construct validity was demonstrated through legitimate placement of the concept, healthy death readiness, within the theoretical web which supported it. The MRDI was then administered to a sample of 31 terminally-ill individuals, their primary caregivers, and their primary hospice nurses drawn from larger, urban hospice populations in three geographic areas of the United States. The MRDI was also administered to a contrast group of 39 cardiac-impaired individuals who were not terminally-ill. Overall internal consistency of the MRDI was found to be quite favorable (alpha = .76). Debilitating illness and actual mortality in the study sample precluded and/or confounded estimates of test-retest reliability. Convergent validity of the MRDI was indicated by significant correlations between patients' scores and primary caregivers' estimates (r = .35, p < .05) and between patients' scores and primary hospice nurses' estimates (r = .53, p < .01). Discriminant validity of the MRDI was demonstrated by a significant mean difference between the group of terminally-ill patients and the group of non-terminal, cardiac-impaired patients (t = 1.76, p < .01).
Epidemiology of bronchial asthma among school boys in Al-Khobar city, Saudi Arabia.

OBJECTIVE The objective of this cross-sectional study was to determine the prevalence of bronchial asthma among Saudi School boys at Al-Khobar city. METHODS This is a cross-sectional study. The methodology included the distribution of a self administered questionnaire which was filled by the parents of 1482 school boys who satisfied the selection criteria of the study. RESULTS The prevalence rate of Questionnaire Diagnosed Asthma and Physician Diagnosed Asthma were 9.5% and 8%. Questionnaire Diagnosed Asthma school boys and their parents suffered significantly higher rates of allergenic diseases and environmental factors (pets at home, passive smoking) than non Questionnaire Diagnosed Asthma. CONCLUSION The prevalence of Questionnaire Diagnosed Asthma among schoolboys in Al-Khobar city was more than that which was described earlier. However, this rate was less than those reported from other parts of the Kingdom but higher than the ones reported from Arab, developing and European countries. There is evidence that a combination of genetic and environmental factors play a major role in the etiology of this disease. Based on the results of this study, appropriate and practical measures need to be taken to identify causes and initiate control programs.
Comparison of three analytical platforms for quantification of the neurofilament light chain in blood samples: ELISA, electrochemiluminescence immunoassay and Simoa

Abstract Background: Neuronal damage is the morphological substrate of persisting neurological disability. Neurofilaments (Nf) are specific cytoskeletal proteins of neurons and their quantification has shown encouraging results as a biomarker for axonal injury. Methods: We aimed at comparing a widely used conventional ELISA for Nf light chain (NfL) with an electrochemiluminescence-based method (ECL assay) and a newly developed single-molecule array (Simoa) method in clinically relevant cerebrospinal fluid (CSF) and serum samples. Results: Analytical sensitivity was 0.62 pg/mL for Simoa, 15.6 pg/mL for the ECL assay, and 78.0 pg/mL for the ELISA. Correlations between paired CSF and serum samples were strongest for Simoa (r=0.88, p<0.001) and the ECL assay (r=0.78, p<0.001) and weaker for ELISA measurements (r=0.38, p=0.030). CSF NfL measurements between the platforms were highly correlated (r=1.0, p<0.001). Serum NfL levels were highly related between ECL assay and Simoa (r=0.86, p<0.001), and this was less visible between ELISA-ECL assay (r=0.41, p=0.018) and ELISA-Simoa (r=0.43, p=0.013). Multiple sclerosis (MS) patients had significantly higher serum NfL levels than controls when measured with Simoa (p=0.001) but not with the other platforms. Conclusions: We found Simoa to be more sensitive than ELISA or the ECL assay. Our results support the feasibility of quantifying NfL in serum; the results correlate with the more-established CSF NfL test. The highly sensitive Simoa technology deserves further studies in larger patient cohorts to clarify whether serum NfL could be used in the future to measure disease severity and determine prognosis or response to treatment interventions in neurological diseases.
Mobile Exercise Apps and Increased Leisure Time Exercise Activity: A Moderated Mediation Analysis of the Role of Self-Efficacy and Barriers

Background There are currently over 1000 exercise apps for mobile devices on the market. These apps employ a range of features, from tracking exercise activity to providing motivational messages. However, virtually nothing is known about whether exercise apps improve exercise levels and health outcomes and, if so, the mechanisms of these effects. Objective Our aim was to examine whether the use of exercise apps is associated with increased levels of exercise and improved health outcomes. We also develop a framework within which to understand how exercise apps may affect health and test multiple models of possible mechanisms of action and boundary conditions of these relationships. Within this framework, app use may increase physical activity by influencing variables such as self-efficacy and may help to overcome exercise barriers, leading to improved health outcomes such as lower body mass index (BMI). Methods In this study, 726 participants with one of three backgrounds were surveyed about their use of exercise apps and health: (1) those who never used exercise apps, (2) those who used exercise apps but discontinued use, and (3) those who are currently using exercise apps. Participants were asked about their long-term levels of exercise and about their levels of exercise during the previous week with the International Physical Activity Questionnaire (IPAQ). Results Nearly three-quarters of current app users reported being more active compared to under half of non-users and past users. The IPAQ showed that current users had higher total leisure time metabolic equivalent of task (MET) expenditures (1169 METs), including walking and vigorous exercise, compared to those who stopped using their apps (612 METs) or who never used apps (577 METs). Importantly, physical activity levels in domains other than leisure time activity were similar across the groups. The results also showed that current users had lower BMI (25.16) than past users (26.8) and non-users (26.9) and that this association was mediated by exercise levels and self-efficacy. That relationship was also moderated by perceived barriers to exercise. Multiple serial mediation models were tested, which revealed that the association between app use and BMI is mediated by increased self-efficacy and increased exercise. Conclusions Exercise app users are more likely to exercise during their leisure time, compared to those who do not use exercise apps, essentially fulfilling the role that many of these apps were designed to accomplish. Data also suggest that one way that exercise apps may increase exercise levels and health outcomes such as BMI is by making it easier for users to overcome barriers to exercise, leading to increased self-efficacy. We discuss ways of improving the effectiveness of apps by incorporating theory-driven approaches. We conclude that exercise apps can be viewed as intervention delivery systems consisting of features that help users overcome specific barriers.
The Importance of Human Cochlear Anatomy for the Results of Modiolus-Hugging Multichannel Cochlear Implants

Hypothesis The fact that the anatomy of the basal turn of the human cochlea, especially, is essentially different from that of other species is likely to influence the outcome of cochlear implantation. Background Multichannel cochlear implants give better speech understanding than single-channel devices. They are intended to make use of the tonotopic organization of the cochlea by selectively stimulating subpopulations of the auditory nerve. At higher stimulus levels and with monopolar stimulation, excitation of nerve fibers from other turns may interfere with this concept, especially with modiolus-hugging electrodes. Methods A three-dimensional spiraling computer model of the human cochlea, based on histologic data, was used to test the spatial selectivity and the dynamic range before cross-turn stimulation takes place for the Clarion HiFocus implant with and without a positioner. The results were compared with a similar model of the guinea pig cochlea. Results In humans (in contrast to the guinea pig), a well-designed modiolus-hugging electrode yielded reduced current thresholds and high spatial selectivity without reduction of the useful dynamic range. The apical turn of the human cochlea, however, is largely comparable in this respect with the guinea pig cochlea, where cross-turn stimulation reduces the dynamic range substantially. Conclusion The clinical success of cochlear implantation in humans and the favorable results with modiolus-hugging devices depend on the anatomy of the human cochlea.