Miracle-dz/UniFAR-FTUs huggingface dataset:
Increased symptoms of attention deficit hyperactivity disorder and major depressive disorder symptoms in nail‐patella syndrome: Potential association with LMX1B loss‐of‐function

Nail‐Patella syndrome (NPS) is an autosomal dominant disorder that is the result of heterozygous loss‐of‐function mutations in LMX1B, coding for a LIM homeobox (LIM‐HD) transcription factor. Analyses of lmx1b mutant mice have revealed the role of Lmx1b in the development of mesencephalic dopaminergic neurons and the serotonergic system; these areas have been linked with symptoms of attention deficit hyperactivity disorder (ADHD) and major depressive disorder (MDD). Fifty adults (38 females, 12 males) with NPS completed the Conners' Adult ADHD Rating Scales—Self‐report: Long Version (CAARS) and Beck Depression Inventory‐II (BDI‐II). The objective was to describe the neurobehavioral phenotype of these subjects and examine possible relationships between neurobehavioral symptoms and NPS. Elevated levels of DSM‐IV‐TR ADHD Inattentive symptoms were reported on the CAARS by 22% of the NPS sample. The BDI‐II Total score was elevated for 40% of the NPS sample. There was a significant increase in the odds of an elevated BDI‐II Total score when any of the three CAARS scales were elevated (odds ratios ranging from 11.455 to 15.615). The CAARS and BDI‐II did not significantly differ with gender, age, or education level. There was no significant association between genetic mutation‐predicted protein status and elevations on CAARS or BDI‐II. Individuals with NPS reported co‐occurring symptoms of ADHD and MDD, with higher levels of co‐occurrence than reported in the literature for the general population. The co‐occurrence of these symptoms may be related to mesencephalic dopaminergic neurologic pathway abnormalities that are a consequence of LMX1B loss of function. © 2010 Wiley‐Liss, Inc.
Haemodialysis: the effects of using the empowerment concept during the development of a mutual-support group in Taiwan.

AIMS AND OBJECTIVE To determine the effectiveness of using the empowerment concept during the development of a mutual-help group for haemodialysis. BACKGROUND Haemodialysis has different impacts on patients' physical, psychological and social health. The effects of mutual-support group have been found in groups of chronic disease patients. However, none of them were for haemodialysis patients. DESIGN An intervention-evaluation design was used for this study. The intervention process was divided into four phases: (1) assessment, (2) planning, (3) action and (4) evaluation/feedback. As part of this study, a mutual-help group was formed that met eight times for group activities over a three-month study period. RESULTS There were three indicators of empowerment outcomes. Physical symptoms decreased significantly after the patients had participated in the mutual-help group (z = -2.893, p < 0.05), especially symptoms such as itchy skin, insomnia and spasms. In terms of the patients' social network and social functions, social support increased significantly (z = -3.412, p < 0.05). The total score for the patients' quality of life also showed a significant improvement (z = -3.408, p < 0.05) with the emotional and health dimensions improving the most. CONCLUSION This study provides evidence that supports the use of mutual-help groups as a means of aiding patients with chronic illness to cope with their illness. Mutual-help groups are a necessary future direction in nursing that will improve the quality of health care for patients' with chronic illness. RELEVANCE TO CLINICAL PRACTICE The study found that a mutual-help group not only can improve patient's illness adaptability, but also brought about a range of other empowerment outcomes. It also had many positive impacts for the hospital. Therefore, it will be beneficial for the patients with a chronic illness if health care professionals can be sensitive to relevant factors and construct mutual-support groups based on the empowerment concept.
Evaluation of risk loci for schizophrenia derived from genome‐wide association studies in a German population

In the genome‐wide association study (GWAS) on schizophrenia [O'Donovan et al. (2008); Nat Genet 40:1053–1055] a UK‐sample of 479 cases with DSM‐IV schizophrenia was genotyped in comparison to control subjects with follow up of 12 putative loci in international replication sets of approximately 15,000 cases and controls. In these cohorts and a combined bipolar and schizophrenia UK‐sample, six single nucleotide polymorphisms (SNPs) supported association, with the strongest evidence for SNP‐marker rs1344706 at the zinc finger ZNF804A locus on chromosome 2q32.1 (P = 1.61 × 10−7). We attempted replication of these findings in a German population of 2,154 individuals (632 with affective disorders, 937 with schizophrenia, and 585 controls), but found none of the GWAS risk alleles significantly associated with psychosis. Particularly rs1344706, initially surpassing the genome‐wide significance level in an extended phenotype of schizophrenia and affective disorder, produced consistently negative results. At the ZNF804A locus estimated Odds ratios reached 1.08 (0.93–1.26 95% CI) for the schizophrenia sample and 1.04 (0.90–1.20 95% CI) for the combined set of cases with schizophrenia and affective disorder. The main limitation of our study may be the reduced power of the sample size, but our data may be useful for future meta‐analysis of GWA data sets. Although GWAS have proven extraordinary successful in identifying susceptibility genes for complex genetic disorders, the hypothesis of common genetic variants in the complex group of the schizophrenic psychoses with small effect size but relatively high frequency is still put to further scrutiny. © 2011 Wiley‐Liss, Inc.
A review of developments in medical termination of pregnancy.

AIM This literature review aims to supplement guidelines by providing an overview of recent evidence relevant to medical termination of pregnancy. BACKGROUND Termination of pregnancy is available to women in the UK within legal parameters. Although guidelines form a strong body of evidence on which nurses and midwives can base their practice, there is a need to supplement them with up-to-date robust research findings. METHOD A systematic search of the literature with high sensitivity and low specificity was undertaken on five databases using medical subject headings (MeSH) terms including (medical) induced abortion, therapeutic abortion and termination of pregnancy. RESULTS The literature search revealed articles under the following headings: The importance of choice for the women involved the need for the optimal medication type, dose, route and interval between stages one and two, and the optimum place for medical termination to take place. CONCLUSION It was found that women attach a great deal of importance to the opportunity to choose their method of termination. The first stage of mifepristone is now a standard practice and an optimum dose has been determined. Several studies examined misoprostol used in the second stage of medical termination. There was some evidence for repeated doses of misoprostol, particularly in later gestation, with conflicting evidence on the optimal route. There were some grounds for reducing the interval between stages. Consideration should be given to home medical termination based on individual circumstances and choice. Gestation and previous obstetric history is an important factor to take into account when determining optimal regimen. Relevance to clinical practice. The number of medical termination of pregnancies performed has risen in recent years together with the nurses' involvement. As new research is published, it is imperative that nurses adapt to base their involvement on the best available evidence.
GCN5 Protects Vertebrate Cells against UV-irradiation via Controlling Gene Expression of DNA Polymerase η*

Background: DNA polymerase η (POLH) whose deficiency is responsible for XPV is essential for translesion DNA synthesis. Results: GCN5-deficiency in DT40 causes both enhanced sensitivity to UV-irradiation and down-regulation of POLH expression. Conclusion: GCN5 protects cells against UV-irradiation via controlling POLH gene expression. Significance: This is the first study that reveals involvement of GCN5 in UV-tolerance through transcription activation of POLH. By UV-irradiation, cells are subjected to DNA damage followed by mutation, cell death and/or carcinogenesis. DNA repair systems such as nucleotide excision repair (NER) and translesion DNA synthesis (TLS) protect cells against UV-irradiation. To understand the role of histone acetyltransferase GCN5 in regulation of DNA repair, we studied the sensitivity of GCN5-deficient DT40, GCN5−/−, to various DNA-damaging agents including UV-irradiation, and effects of GCN5-deficiency on the expression of NER- and TLS-related genes. After UV-irradiation, cell death and DNA fragmentation of GCN5−/− were appreciably accelerated as compared with those of DT40. Interestingly, GCN5−/− showed a remarkable sensitivity to only UV-irradiation but not to other DNA-damaging agents tested. Semiquantitative RT-PCR showed that transcription of DNA polymerase η (POLH) gene whose deficiency is responsible for a variant form of xeroderma pigmentosum was drastically down-regulated in GCN5−/− (to ∼25%). In addition, ectopic expression of human POLH in GCN5−/− dramatically reversed the sensitivity to UV-irradiation of GCN5−/− to almost the same level of wild type DT40. Moreover, chromatin immunoprecipitation assay revealed that GCN5 binds to the chicken POLH gene 5′-flanking region that contains a typical CpG island and acetylates Lys-9 of histone H3, but not Lys-14 in vivo. These data suggest that GCN5 takes part in transcription regulation of POLH gene through alterations in the chromatin structure by direct interaction with its 5′-flanking region, and protects vertebrate cells against UV-induced DNA damage via controlling POLH gene expression.
Intraindividual Increase of Homeostatic Sleep Pressure Across Acute and Chronic Sleep Loss: A High-Density EEG Study

Study Objectives To compare intraindividually the effects of acute sleep deprivation (ASD) and chronic sleep restriction (CSR) on the homeostatic increase in slow wave activity (SWA) and to relate it to impairments in basic cognitive functioning, that is, vigilance. Methods The increase in SWA after ASD (40 hours of wakefulness) and after CSR (seven nights with time in bed restricted to 5 hours per night) relative to baseline sleep was assessed in nine healthy, male participants (age = 18-26 years) by high-density electroencephalography. The SWA increase during the initial part of sleep was compared between the two conditions of sleep loss. The increase in SWA was related to the increase in lapses of vigilance in the psychomotor vigilance task (PVT) during the preceding days. Results While ASD induced a stronger increase in initial SWA than CSR, the increase was globally correlated across the two conditions in most electrodes. The increase in initial SWA was positively associated with the increase in PVT lapses. Conclusions The individual homeostatic response in SWA is globally preserved across acute and chronic sleep loss, that is, individuals showing a larger increase after ASD also do so after CSR and vice versa. Furthermore, the increase in SWA is globally correlated to vigilance impairments after sleep loss over both conditions. Thus, the increase in SWA might therefore provide a physiological marker for individual differences in performance impairments after sleep loss.
Development and psychometric evaluation of workplace psychologically violent behaviours instrument.

AIM To develop an instrument to determine nurses' perceptions of psychologically violent behaviours that they are exposed to in the workplace. BACKGROUND According to Leymann, psychological terror or mobbing in work life involves hostile and unethical communication, which is directed in a systematic way towards one individual who, due to mobbing, is pushed into a helpless and defenceless position, and being held there by means of continuing mobbing activities. DESIGN Survey. METHODS Because nurses who work in hospitals are generally the principle victims of physical, emotional and verbal violence due to the nature of their work environment, the research sample comprised 476 hospital nurses. Data were collected via self-administered questionnaires. RESULTS The instrument to determine the perception of workplace psychologically violent behaviours contains 33 items and four factors (individual's isolation from work, attack on professional status, attack on personality and direct attack). All items have shown statistically significant correlation (p < 0.01); the instrument's total Cronbach's alpha internal consistency coefficient was found to be 0.93. CONCLUSIONS The findings show that the instrument's validity and reliability are within the limits of an acceptable level and that it is an instrument that will encourage more studies on this subject. RELEVANCE TO PRACTICE Defining the psychological pressure that nurses are exposed to in the workplace and determining its negative effects on the victim of workplace psychological pressure and on the institution will make it possible to protect individuals and the institution from psychological violence with both individual and institutional practices.
Evaluating changes in women's attitudes towards cervical screening following a screening promotion campaign and a free vaccination program. CHERE Working Paper 2009/3

This study examines behavioural changes brought about by two interventions introduced to lower the incidence of cervical cancer in Australia. The first intervention is a media campaign promoting regular screening behaviour to women. The second intervention is a vaccination program providing a free HPV vaccine, Gardasil, to young women launched in the same period. The results using data from discrete choice experiments find that in general, given individual characteristics, the interventions have minor impact on how women value screening attributes. The interventions however alter women? s inherent taste for screening. Unexpectedly, willingness to screen is generally lower post-interventions. The reason for this trend appears to be related to HPV events. For instance, the reduction in screening participation is particularly marked among young women who are eligible for the vaccination program. There is also a larger aversion towards testing among women who gained information on HPV facts and HPV-related measures. Thus, in the face of HPV innovations, screening promotions need to account for these factors. A simulation exercise is then performed to assess the plausibility of several strategies to increase the screening rate. The results nominate supply-side policies, in particular those targeted to health providers, as the most effective strategy.
Leg movement activity during sleep in school-age children and adolescents: a detailed study in normal controls and participants with restless legs syndrome and narcolepsy type 1

Study Objectives To evaluate leg movement activity during sleep (LMS) in normal school-age children and adolescents, to eventually establish age-specific periodic LMS (PLMS) index thresholds that support the diagnosis of restless legs syndrome (RLS), and to evaluate the utility of other LMS indices. Methods Polysomnographic recordings from 61 controls, 46 children with RLS, and 44 children with narcolepsy type 1 (NT1) were analyzed for total leg movements (LMS), PLMS, and isolated leg movements (ISOLMS) duration and indices, separately for school-age children and adolescents. Moreover, intermovement interval (IMI) graphs and time-of-night distribution of LMS were analyzed, and cut-off thresholds for PLMS index and total LMS index were assessed for the separation of RLS from controls. Results All indices tended to decrease from school-age children to adolescents in normal controls and in NT1, whereas in RLS, only PLMS index increased. All school-age children had a similar IMI distribution with a single peak at IMI 2-4 s followed by gradual decline. In adolescents with RLS, a second peak at IMI 10-50 s was seen. Time-of-night distribution of most indices decreased in RLS, whereas most tended to increase in NT1. A PLMS index cutoff of 2 per hour best differentiated RLS from controls in school-age children (accuracy 70.0%) and in adolescents (accuracy 70.8%); however, most participants with NT1 also showed PLMS indices higher than this threshold. Conclusions PLMS index alone does not reliably predict the diagnosis of RLS in children and adolescents. However, analyses of IMI distribution and time-of-night distribution provide additional elements to support a diagnosis of RLS.
Characterisation of complex xylo-oligosaccharides from xylan rich by-products

Hydrolysates obtained by hydrothermal treatment of four xylan rich by-products (wheat bran, brewery's spent grain, corn cobs and Eucalyptus wood) were characterised. Depending on the feedstock material studied, the xylan originally present differed in substitution with arabinose, 4- O -methylglucuronic acid and O -acetyl substituents. Due to a partial release of the various substituents and depolymerisation of the xylan by the hydrothermal treatments performed, a wide variety of differently substituted XOS and xylan-fragments were obtained. High performance anion-exchange chromatography (HPAEC), reversed phase (RP)-high performance liquid chromatography (HPLC), mass spectrometry (MS), NMR spectroscopy, RP-HPLC-MS and RP-HPLC-NMR showed to be very useful for the separation and characterisation of the detailed structures of the substituted XOS. The differently substituted XOS in the hydrolysates of brewery's spent grain and Eucalyptus wood were separated by anion-exchange and size-exclusion chromatography and characterised in more detail. The XOS in the brewery's spent grain hydrolysate included mainly xylan-fragments substituted with arabinoses and XOS containing only few substituents. Furthermore, arabinoxylan-fragments having O -acetyl substitution were present, suggesting the presence of O -acetyl in cereal arabinoxylans. The Eucalyptus wood hydrolysate contained mainly linear XOS, O -acetylated XOS and ( O -acetylated) XOS substituted with one or two 4- O -methylglucuronic acid(s). Additionally, a series of XOS containing both 4- O -methyl-glucuronic acid and a hexose, most likely galactose, was identified.
Sleep duration and incidence of obesity in infants, children, and adolescents: a systematic review and meta-analysis of prospective studies

Study Objectives To assess the prospective relationship between sleep and obesity in a paediatric population. Methods We performed a systematic search using PubMed, Embase, Web of Science, and Cochrane (up to September 25, 2017). Included studies were prospective, had follow-up of ≥1 year, had duration of sleep at baseline, and measures of incidence of overweight or obesity and/or changes in body mass index (BMI) z-score and BMI during follow-up. We extracted relative risks or changes in BMI z-score or BMI and 95% confidence intervals (CI) and pooled them using a random effect model. Results Forty-two studies were included but, as there was significant heterogeneity, results are presented by age strata. Short sleep was associated with a greater risk of developing overweight or obesity in infancy (seven studies, 14738 participants, risk ratio [RR]: 1.40; 95% CI 1.19 to 1.65; p < .001), early childhood (eight studies, 31104 participants, RR: 1.57; 1.40 to 1.76; p < .001), middle childhood (three studies, 3005 participants, RR: 2.23; 2.18 to 2.27; p < .001), and adolescence (three studies, 26652 participants, RR: 1.30; 1.11 to 1.53; p < .002). Sleep duration was also associated with a significant change in BMI z-score (14 studies, 18 cohorts, 31665 participants; mean difference -0.03; -0.04 to -0.01 per hour sleep; p = .001) and in BMI (16 studies, 24 cohorts, 24894 participants; mean difference -0.03 kg/m2; -0.04 to -0.01 for every hour of increase in sleep; p = .001). Conclusions Short sleep duration is a risk factor or marker of the development of obesity in infants, children, and adolescents.
Nurses' knowledge of pharmacology behind drugs they commonly administer.

AIM To determine if nurses had adequate pharmacology knowledge of the drugs they commonly administer. BACKGROUND Literature suggests that nurses have insufficient pharmacology knowledge. We also know that nurses and teachers of pharmacology are not satisfied with the amount of pharmacology taught in preregistration programmes in the UK. There is a lack of primary research on nurses' knowledge of pharmacology for the purpose of drug administration. DESIGN We used a non-experimental causal comparative and correlational design. METHODS We recruited a convenience sample of 42 nurses working in surgical wards of a foundation hospital in the North of England. Data were collected by structured interview and questionnaire methods. During the interview, the participants made a blinded selection of one out of four drugs they commonly administer and answered standard questions which focused on specific pharmacology knowledge. Their answers were given a score out of 10 (100%) to determine their actual pharmacology knowledge. RESULTS The sample comprised of 18 (42.9%) junior nurses and 24 (57.1%) senior nurses. They had a median experience of 10.87 years postregistration. Their mean knowledge score was six ranging between two and nine (SD 1.9). Only 11 (26.1%) nurses scored eight or above and the majority 24 (57.2%) scored below seven, indicating inadequate knowledge. Knowledge of the mechanism of action and drug interactions was poor. There was a correlation between knowledge and experience. CONCLUSIONS The results of this study suggest that nurses have inadequate knowledge of pharmacology. The results will contribute to the evidence of nurses' knowledge of pharmacology in the UK. RELEVANCE TO CLINICAL PRACTICE This study supports the need for supplementary pharmacology education for nurses in clinical settings, focusing on common drugs they administer. This will increase nurses' knowledge and confidence in drug administration and safer medicines management.