Miracle-dz/UniFAR-FTUs huggingface dataset:
Getting prepared for life at home in the discharge process--from the perspective of the older persons and their relatives.

AIM To examine how older persons in need of home-nursing care and their relatives experience the discharge process and develop a model that explains the experience. BACKGROUND The discharge process has well-known deficiencies and is therefore a challenging issue requiring improvement in many countries. Research focusing on patient-centred factors has attracted very little critical attention. DESIGN Grounded theory was used to analyze semi-structured interviews with 26 older persons and their relatives. FINDINGS The analysis resulted in a theoretical model that depicts factors determining whether the older persons and their relatives feel prepared or unprepared for life at home at the time of discharge. CONCLUSIONS The older persons and/or their relatives felt prepared at the time of discharge if their needs were satisfied in the three significant areas of preparation. Not only were the professionals' skills of the utmost importance in preparing the older persons/relatives, but also the latter's own approach if the professionals were unskilled. RELEVANCE FOR CLINICAL PRACTICE A knowledge of the preparation areas and skills can be of use for improving the quality of the discharge process from the older persons' and their relatives' perspective, i.e. through policies, checklists and teaching programmes.
CyberKnife Radiosurgery in Neurosurgical Practice

Gamma Knife radiosurgery revolutionized neurosurgical care for intracranial tumors, arteriovenous malformations, and functional disorders. A new generation of radiosurgical devices exemplified by the frameless, image-guided, robotic CyberKnife (Accuray, Inc, Sunnyvale, CA) extends the benefits of precise, stereotactic delivery of ablative doses of radiation to the spine and other extracranial targets not easily treated by the Gamma Knife. In this review, CyberKnife technology and applications in neurosurgery are described. Eliminating the stereotactic frame allows the CyberKnife to provide a far more comfortable treatment experience for patients and makes it easier to treat lesions in multiple sessions, thereby extending to radiosurgery the potential radiobiologic benefits of dose hypofractionation. Robotic radiation delivery allows treatment plans to be nonisocentric, conforming more readily to complex, nonspherical lesion volumes. The ability to treat extracranial sites may be a significant benefit to neurosurgeons because institutions may be more likely to adopt radiosurgical technology that has applications beyond neurosurgical practice.
Online Recruitment of Targeted Populations: Lessons Learned from a Smoking Cessation Study among Korean Americans

Korean Americans (KAs) have among the highest smoking rates in the United States. They are unlikely to participate in conventional evidence-based smoking cessation programs, preferring to quit on their own. Since KAs have good Internet access, the study's community advisory board recommended evaluating the efficacy of an online cessation program. In conjunction with the board, an Internet-based, self-help program was adapted to ensure that it was culturally and linguistically appropriate and was evaluated with a randomized trial. This article describes the real-world experience recruiting 1,261 KA participants, primarily through online methods. Paid online advertising was essential to the recruitment effort. The 31 months of advertising cost approximately $84,000, or $66.50 per study enrollee. Based on self-reports, most participants learned about the study from either a text link such as Google AdWords (44%) and/or a graphic link such as an online newspaper ad (35%). Among the methods used, Google AdWords' cost-per-click content site ads were the most cost-effective. Other types of outreach, including unpaid Internet ads, cable television, newspapers, fliers, and word of mouth, had very low reach. Geographically dispersed, linguistically unique, and privacy-oriented communities can be recruited for eHealth studies and interventions. However, a paid advertising campaign may be necessary.
Separation of Encoding Fluency and Item Difficulty Effects on Judgements of Learning

The fluency of information encoding has frequently been discussed as a major determinant of predicted memory performance indicated by judgements of learning (JOLs). Previous studies established encoding fluency effects on JOLs. However, it is largely unknown whether fluency takes effect above and beyond the effects of item difficulty. We therefore tested whether encoding fluency still affects JOLs when numerous additional cues indicating the difficulty of an item are available as well. In three experiments, participants made JOLs for another participant while observing his or her self-paced study phase. However, study times were swapped in one experimental condition, so that items with short study times (indicating high fluency) were presented for long durations, whereas items with long study times (indicating low fluency) were presented for short durations. Results showed that both item difficulty and encoding fluency affected JOLs. Thus, encoding fluency in itself is indeed an important cue for JOLs that does not become redundant when difficulty information is available in addition. This observation lends considerable support to the ease-of-processing hypothesis.
Leiomyoma of the Gastrointestinal Tract With Interstitial Cells of Cajal: A Mimic of Gastrointestinal Stromal Tumor

Leiomyomas (LMs) of the gastrointestinal tract arise within the muscularis mucosae (superficial) and muscularis propria (deep). There are isolated reports of KIT-positive cells, presumed interstitial cells of Cajal (ICCs), within gastrointestinal LMs. We have encountered esophageal LMs with a high proportion of KIT-positive and DOG1-positive spindle-shaped cells, an appearance that mimicked gastrointestinal stromal tumor. Our aim was to explore the prevalence of ICCs in LMs of the gastrointestinal tract and the etiopathogenic significance of these cells in this benign neoplasm. We identified 34 esophageal LMs (28 deep, 6 superficial), 8 gastric LMs, and 5 small-bowel LMs (all lesions in muscularis propria). We performed immunohistochemical staining studies for desmin, DOG1, and KIT on these neoplasms. We also evaluated 12 superficial colonic LMs. ICCs were distinguished from mast cells on the basis of morphology (elongated and occasionally branching spindle-shaped cells) and the presence of DOG1 reactivity. Four cases were screened for mutations in PDGFRA exons 12, 14, and 18 and KIT exons 9, 11, 13, and 17. ICCs were identified in all deep esophageal LMs and constituted an average of 20% of the lesional cells; focally, these cells comprised >50% of cells. The density of these cells was significantly higher than the background muscularis propria, and hyperplasia of ICCs was not identified in the adjacent muscle. ICCs were identified in 6 of 8 gastric LMs and 1 of 5 small-bowel LMs and were entirely absent in all superficial esophageal and colonic/rectal LMs. There were no mutations in KIT or PDGFRA. ICCs are universally present in deep esophageal LMs, and thus these neoplasms could be mistaken for gastrointestinal stromal tumors, particularly on biopsy samples, an error associated with adverse clinical consequences. ICCs are also identified in gastric and intestinal LMs, albeit in a smaller proportion of cases. Colonization and hyperplasia by non-neoplastic ICCs likely account for this phenomenon.
Profile of Pharmacotherapy and Pharmacoeconomics of Epilepsy Treatment at a Tertiary Care Hospital

Background : Pharmacotherapy and pharmacoeconomic study involving treatment of epilepsy was carried out at a tertiary care hospital. The aim of this study was to investigate the cost-effectiveness of treatment for epilepsy. Methods : This was a prospective, non-interventional, observational study. The demographic, disease and treatment data were collected for one year from patients with epilepsy. Results : The number of male patients were significantly more than females (p 2 = 0.71, F=43.036, p = Conclusions : Significant increase in direct and indirect treatment costs observed in the present study, suggests the need to design comprehensive treatment plan to encourage cost effective AED use, to reduce economic burden of epilepsy. doi: 10.5214/ans.0972. 7531.2006. 130403
Priming Prepositional Phrase Attachment: Evidence from Eye-Tracking and Event-Related Potentials

Three syntactic-priming experiments investigated the effect of structurally similar or dissimilar prime sentences on the processing of target sentences, using eye tracking (Experiment 1) and event-related potentials (ERPs) (Experiments 2 and 3) All three experiments tested readers' response to sentences containing a temporary syntactic ambiguity. The ambiguity occurred because a prepositional phrase modifier (PP-modifier) could attach either to a preceding verb or to a preceding noun. Previous experiments have established that (a) noun-modifying expressions are harder to process than verb-modifying expressions (when test sentences are presented in isolation); and (b) for other kinds of sentences, processing a structurally similar prime sentence can facilitate processing a target sentence. The experiments reported here were designed to determine whether a structurally similar prime could facilitate processing of noun-attached modifiers and whether such facilitation reflected syntactic-structure-building or semantic processes. These findings have implications for accounts of structural priming during online comprehension and for accounts of syntactic representation and processing in comprehension.
Working Memory Affects Older Adults’ Use of Context in Spoken-Word Recognition

Many older listeners report difficulties in understanding speech in noisy situations. Working memory and other cognitive skills may modulate older listeners’ ability to use context information to alleviate the effects of noise on spoken-word recognition. In the present study, we investigated whether verbal working memory predicts older adults’ ability to immediately use context information in the recognition of words embedded in sentences, presented in different listening conditions. In a phoneme-monitoring task, older adults were asked to detect as fast and as accurately as possible target phonemes in sentences spoken by a target speaker. Target speech was presented without noise, with fluctuating speech-shaped noise, or with competing speech from a single distractor speaker. The gradient measure of contextual probability (derived from a separate offline rating study) affected the speed of recognition. Contextual facilitation was modulated by older listeners’ verbal working memory (measured with a backward digit span task) and age across listening conditions. Working memory and age, as well as hearing loss, were also the most consistent predictors of overall listening performance. Older listeners’ immediate benefit from context in spoken-word recognition thus relates to their ability to keep and update a semantic representation of the sentence content in working memory.
Managing delirium in the acute care setting: a pilot focus group study.

BACKGROUND Delirium frequently occurs in hospitalised older adults leading to poor outcomes and frequent adverse events. Proper recognition and management of delirium by acute care nurses can minimise the effects of negative sequelae associated with delirium. AIM This pilot study used focus group methodology to: (i) describe acute care nurse's experience and knowledge regarding assessment and management of delirium in hospitalised older adults; (ii) illustrate potential facilitators and barriers to non-drug management of delirium; and (iii) to explicate the use of non-drug interventions by acute care nurses to manage delirium in hospitalised older adults. DESIGN Qualitative, pilot study. METHODS A total of 16 nurse participants, working on medical, surgical and orthopaedic units from one acute care hospital participated in two focus groups. RESULTS Main themes included the following: confusion is normal; our duty is to protect; and finding a balance. Nurses were able to identify non-pharmacological interventions for delirium and facilitators and barriers to using these in clinical practice. CONCLUSIONS Findings from this pilot study illustrate the need for regular assessment of cognitive status in hospitalised older adults and nursing staff education regarding the use of non-pharmacological management of delirium. Based on their experience, nurses have a wealth of ideas for managing delirium. Areas for future research and policy are also highlighted. IMPLICATIONS FOR PRACTICE More research is needed on how to improve delirium management by acute care nurses to increase the efficacy and use of non-pharmacological interventions in the management of delirium in hospitalised older adults. To translate these findings into practice, nursing care needs to be guided by evidence-based guidelines to implement non-pharmacological strategies in the acute care setting.
Repetition in visual word identification: Benefits and costs

University students performed lexical tasks with visually presented target words after the presentation of an identical or unrelated prime, at short (80–120 ms) or longer (410–710 ms) prime–target stimulus onset asynchronies (SOAs). Experiment 1 showed perceptual identification benefits in vocal responding at a short SOA that were reduced (accuracy) or reversed (latency) at a longer SOA. Experiment 2 showed a transition from a repetition benefit to a cost over 3 SOAs in a target-masked version of the lexical decision task (LDT; target displayed for only 141 ms). In Experiment 3 the repetition cost was replicated at a 530-ms SOA in the LDT with masked targets, but a repetition benefit was observed in the conventional LDT (target displayed until response). The dependence of repetition costs on target masking is more consistent with biases based on episodic confusions than refractoriness of lexical representations.
Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies

Mutations in the COL2A1 gene cause a spectrum of rare autosomal‐dominant conditions characterized by skeletal dysplasia, short stature, and sensorial defects. An early diagnosis is critical to providing relevant patient care and follow‐up, and genetic counseling to affected families. There are no recent exhaustive descriptions of the causal mutations in the literature. Here, we provide a review of COL2A1 mutations extracted from the Leiden Open Variation Database (LOVD) that we updated with data from PubMed and our own patients. Over 700 patients were recorded, harboring 415 different mutations. One‐third of the mutations are dominant‐negative mutations that affect the glycine residue in the G‐X‐Y repeats of the alpha 1 chain. These mutations disrupt the collagen triple helix and are common in achondrogenesis type II and hypochondrogenesis. The mutations resulting in a premature stop codon are found in less severe phenotypes such as Stickler syndrome. The p.(Arg275Cys) substitution is found in all patients with COL2A1‐associated Czech dysplasia. LOVD‐COL2A1 provides support and potential collaborative material for scientific and clinical projects aimed at elucidating phenotype–genotype correlation and differential diagnosis in patients with type II collagenopathies.
Long‐Read Single Molecule Real‐Time Full Gene Sequencing of Cytochrome P450‐2D6

The cytochrome P450‐2D6 (CYP2D6) enzyme metabolizes ∼25% of common medications, yet homologous pseudogenes and copy number variants (CNVs) make interrogating the polymorphic CYP2D6 gene with short‐read sequencing challenging. Therefore, we developed a novel long‐read, full gene CYP2D6 single molecule real‐time (SMRT) sequencing method using the Pacific Biosciences platform. Long‐range PCR and CYP2D6 SMRT sequencing of 10 previously genotyped controls identified expected star (*) alleles, but also enabled suballele resolution, diplotype refinement, and discovery of novel alleles. Coupled with an optimized variant‐calling pipeline, CYP2D6 SMRT sequencing was highly reproducible as triplicate intra‐ and inter‐run nonreference genotype results were completely concordant. Importantly, targeted SMRT sequencing of upstream and downstream CYP2D6 gene copies characterized the duplicated allele in 15 control samples with CYP2D6 CNVs. The utility of CYP2D6 SMRT sequencing was further underscored by identifying the diplotypes of 14 samples with discordant or unclear CYP2D6 configurations from previous targeted genotyping, which again included suballele resolution, duplicated allele characterization, and discovery of a novel allele and tandem arrangement. Taken together, long‐read CYP2D6 SMRT sequencing is an innovative, reproducible, and validated method for full‐gene characterization, duplication allele‐specific analysis, and novel allele discovery, which will likely improve CYP2D6 metabolizer phenotype prediction for both research and clinical testing applications.
Canine dynamic left ventricular outflow tract obstruction: assessment of myocardial function and clinical outcome.

OBJECTIVE The aims of this study were (i) to evaluate echocardiographic findings and myocardial function including pulsed wave tissue Doppler imaging in dogs with naturally occurring dynamic left ventricular outflow tract obstruction and (ii) to investigate the clinical outcome and response to therapy in these dogs. METHODS Two cases were retrospectively reviewed and three cases were prospectively evaluated including clinical findings, diagnostic test results (including standard Doppler echocardiography and pulsed wave tissue Doppler imaging), response to treatment and outcome. The two retrospective cases received no treatment. Other cases were treated with a beta-blocker. RESULTS All dogs had a variable intensity left apical systolic murmur. Concentric left ventricular hypertrophy, systolic anterior motion of the mitral valve and scimitar-shaped left ventricular outflow tract Doppler flow profile were present in all cases. Pulsed wave tissue Doppler imaging interrogation of the interventricular septum revealed E'/A' reversal in all but one patient. Regression of left ventricular hypertrophy and total resolution of the dynamic left ventricular outflow tract obstruction were observed in all cases. CLINICAL SIGNIFICANCE Young dogs are affected with a possible terrier breed predisposition. Dynamic left ventricular outflow tract obstruction may be distinguished from canine hypertrophic cardiomyopathy as progressive resolution of echocardiographic abnormalities was documented. Pulsed wave tissue Doppler imaging abnormalities provide further evidence for significant diastolic dysfunction associated with the hypertrophy.
Plasma cholesterol in adults with phenylketonuria

Summary Phenylketonuria (PKU) is an autosomal recessive disorder of phenylalanine (Phe) catabolism resulting from a deficiency of L-phenylalanine hydroxylase (PAH). An association between hyperphenylalaninaemia (HPA) and hypocholesterolaemia has been reported in children. However, controversy exists as to whether this is due to the low protein diet or to a disruption to cholesterol biosynthesis inherent to those with PKU. We investigated the relationship between blood Phe and plasma cholesterol in 41 apparently healthy adults with PKU (26 female, 15 male, age 18–57 years, median age 26 years) attending a PKU outpatient clinic at an adult tertiary care hospital. Of these patients, 33 (80%) were compliant with a Phe-restricted diet with amino acid supplementation, whereas eight (20%) were not. The PKU subjects had a mean body mass index (BMI) of 30.3 ± 1.8 kg/m2; 72% were obese, 14% overweight, with only 14% having normal BMI. The mean blood Phe was 1194 ± 522 &mgr;mol/L with plasma total cholesterol, triglyceride, HDL-cholesterol, LDL-cholesterol and apolipoprotein (apo) B concentrations of 4.3 ± 0.8 mmol/L, 1.6 ± 0.8 mmol/L, 1.2 ± 0.3 mmol/L, 2.3 ± 0.8 mmol/L, and 0.83 ± 0.21 g/L, respectively. The mean LDL-cholesterol was 19% lower in PKU females than that of 8944 age-matched females from a community population (2.5 ± 0.8 mmol/L vs 3.1 ± 0.9 mmol/L, p < 0.001). Similarly, the mean LDL-cholesterol was 32% lower in PKU males than 3786 age-matched males (2.1 ± 0.7 mmol/L vs 3.1 ± 1.0 mmol/L, p < 0.0001). No correlations were observed between Phe and total cholesterol, LDL-cholesterol or apoB in the PKU cohort. Adults with PKU had low-normal cholesterol concentrations, with no correlation observed between Phe and cholesterol levels. Our findings support the concept that the HPA found in PKU, rather than an effect of a low-protein diet, leads to hypocholesterolaemia. Studies are required to determine whether this cholesterol-lowering effect confers cardioprotection.
Rapid Communication: The loss of residual visual memories over the passage of time

There has been extensive discussion of the causes of short-term forgetting. Some accounts suggest that time plays an important role in the loss of representations, whereas other models reject this notion and explain all forgetting through interference processes. The present experiment used the recent-probes task to investigate whether residual visual information is lost over the passage of time. On each trial, three unusual target objects were displayed and followed by a probe stimulus. The task was to determine whether the probe matched any of the targets, and the next trial commenced after an intertrial interval lasting 300 ms, 3.3 s, or 8.3 s. Of critical interest were recent negative (RN) trials, on which the probe matched a target from the previous trial. These were contrasted against nonrecent negative (NRN) trials, in which the probe had not been seen in the recent past. RN trials damaged performance and slowed reaction times in comparison to NRN trials, highlighting interference. However, this interfering effect diminished as the intertrial interval was lengthened, suggesting that residual visual information is lost as time passes. This finding is difficult to reconcile with interference-based models and suggests that time plays some role in forgetting.
Identification of Intellectual Disability Genes in Female Patients with a Skewed X‐Inactivation Pattern

Intellectual disability (ID) is a heterogeneous disorder with an unknown molecular etiology in many cases. Previously, X‐linked ID (XLID) studies focused on males because of the hemizygous state of their X chromosome. Carrier females are generally unaffected because of the presence of a second normal allele, or inactivation of the mutant X chromosome in most of their cells (skewing). However, in female ID patients, we hypothesized that the presence of skewing of X‐inactivation would be an indicator for an X chromosomal ID cause. We analyzed the X‐inactivation patterns of 288 females with ID, and found that 22 (7.6%) had extreme skewing (>90%), which is significantly higher than observed in the general population (3.6%; P = 0.029). Whole‐exome sequencing of 19 females with extreme skewing revealed causal variants in six females in the XLID genes DDX3X, NHS, WDR45, MECP2, and SMC1A. Interestingly, variants in genes escaping X‐inactivation presumably cause both XLID and skewing of X‐inactivation in three of these patients. Moreover, variants likely accounting for skewing only were detected in MED12, HDAC8, and TAF9B. All tested candidate causative variants were de novo events. Hence, extreme skewing is a good indicator for the presence of X‐linked variants in female patients.