bluuebunny/crossref_metadata_2025_split huggingface dataset:
Down Syndrome and Fragile X Syndrome in a Colombian Woman: Case Report
Authors: Saldarriaga Wilmar , Ruiz Fabian Andres , Tassone Flora , Hagerman Randi 
Published: July 2016

BackgroundDown syndrome (DS) and Fragile X syndrome (FXS) are the major genetic causes of intellectual disabilities. Here, we present a case of a 32‐year‐old woman with the diagnosis of both FXS and DS. She is the daughter of a 47‐year‐old pre‐mutation woman who also has three sons with FXS.MethodsCytogenetic testing detected the presence of a complete trisomy 21. A combination of PCR and Southern blot analysis was utilized to document the presence of the FMR1 full mutation.ResultsThe patient has physical characteristics and behavioural disturbances typical of both FXS and DS, which were confirmed by molecular testing. Her treatment plan included a trial of sertraline because of the severity of her shyness and lack of language. She had an excellent response to sertraline with improvement in shyness and social interactions, particularly with family members.ConclusionsIn this study, we report the case of a woman with both FXS and DS, which is the fifth case of FXS and DS in the world's literature. The patient is from Ricaurte, a small town in Colombia, South America, where there is the world's highest prevalence for FXS.
Training of Residential Social Care Staff to Meet the Needs of Older People with Intellectual Disabilities who Develop Age‐Related Health Problems: An Exploratory Study
Authors: Northway Ruth , Jenkins Robert , Holland‐Hart Daniella 
Published: July 2016

BackgroundDespite awareness of the age related health needs of people with intellectual disabilities little is known regarding how residential social care staff are prepared to meet such needs.MethodsData were gathered via semi‐structured interviews from 14 managers of supported living settings. Transcripts were thematically analysed.FindingsStaff may work in supported living settings with no prior experience of care work, and previous knowledge/experience of supporting people in relation to their health is not required. Whilst health related training is provided there is a lack of specific training regarding healthy ageing, and training seems to be reactive to changing needs of tenants meaning that proactive monitoring for changes in health status may not occur.ConclusionsWhilst some training is provided for residential social care staff in relation to health and ageing a more proactive approach is required which should include a focus on healthy ageing.
Effectiveness of a Proactive Primary Care Program on Preserving Daily Functioning of Older People: A Cluster Randomized Controlled Trial
Authors: Bleijenberg Nienke , Drubbel Irene , Schuurmans Marieke J. , Dam Hester ten , Zuithoff Nicolaas P.A. , Numans Mattijs E. , de Wit Niek J. 
Published: July 2016

ObjectivesTo determine the effectiveness of a proactive primary care program on the daily functioning of older people in primary care.DesignSingle‐blind, three‐arm, cluster‐randomized controlled trial with 1‐year follow‐up.SettingPrimary care setting, 39 general practices in the Netherlands.ParticipantsCommunity‐dwelling people aged 60 and older (N = 3,092).InterventionsA frailty screening intervention using routine electronic medical record data to identify older people at risk of adverse events followed by usual care from a general practitioner; after the screening intervention, a nurse‐led care program consisting of a comprehensive geriatric assessment, evidence‐based care planning, care coordination, and follow‐up; usual care.MeasurementsPrimary outcome was daily functioning measured using the Katz‐15 (6 activities of daily living (ADLs), 8 instrumental activities of daily living (IADLs), one mobility item (range 0–15)); higher scores indicate greater dependence. Secondary outcomes included quality of life, primary care consultations, hospital admissions, emergency department visits, nursing home admissions, and mortality.ResultsThe participants in both intervention arms had less decline in daily functioning than those in the usual care arm at 12 months (mean Katz‐15 score: screening arm, 1.87, 95% confidence interval (CI) = 1.77–1.97; screening and nurse‐led care arm, 1.88, 95% CI = 1.80–1.96; control group, 2.03, 95% CI = 1.92–2.13; P = .03). No differences in quality of life were observed.ConclusionParticipants in both intervention groups had less decline than those in the control group at 1‐year follow‐up. Despite the statistically significant effect, the clinical relevance is uncertain at this point because of the small differences. Greater customizing of the intervention combined with prolonged follow‐up may lead to more‐robust results.
Oral lichen planus and epithelial dysplasia with lichenoid features: a review and discussion with special reference to diagnosis
Authors: Sanketh D. SharathKumar , Patil Shankargouda , Swetha Balamukundan 
Published: July 2016

AbstractDespite guidelines for the diagnosis of oral lichen planus (OLP), there has been much difficulty and ambiguity in rendering a straightforward diagnosis. The root of the problem might arise in not following universal guidelines and being too rigid and unilateral in making a diagnosis. Because of its autoimmune pathogenesis, the dynamic nature of OLP has further fueled confusions. This has had repercussions in the form of controversies in its diagnosis, treatment protocols, research, and most importantly, its potentially malignant nature. Oral lichenoid dysplasia (OLD), an enigmatic entity, proposed by Krutchkoff and Eisenberg, has not found universal acceptance by the pathology community. The objective of the present review was to outline these debates and discuss ongoing controversies regarding OLD and uncertainties in the diagnostic criteria of OLP.
Strange and scary memories of the intensive care unit: a qualitative, longitudinal study inspired by Ricoeur's interpretation theory
Authors: Svenningsen Helle , Egerod Ingrid , Dreyer Pia 
Published: July 2016

Aims and objectivesTo describe the content of former intensive care unit patients’ memories of delusions.BackgroundIntensive care unit patients often have strange and frightening experiences during the critical stage of illness. Earlier studies have provided small‐sample in‐depth descriptions of patient experiences in intensive care unit, but large‐scale studies are also needed to inform intensive care unit follow‐up.MethodsThe study had a qualitative design using phenomenological hermeneutic analysis inspired by Ricoeur's interpretive theory. Patients were assessed with Confusion Assessment Method of the Intensive Care Unit for delirium in intensive care unit, and after discharge, memories of delusions were described by 114 of 325 patients in face‐to‐face (after two weeks) and telephone interviews (after two and six months) using the Intensive Care Unit Memory Tool.ResultsFour themes emerged: the ever‐present family, dynamic spaces, surviving challenges and constant motion. Memories of delusions were a vivid mix of fact and fiction, demonstrating dynamic shifts in time, place and motion, but not dependent on the presence of delirium assessed by Confusion Assessment Method of the Intensive Care Unit.ConclusionsAnalysis based on Ricoeurian phenomenological hermeneutics provided insights into themes in intensive care unit patients’ memories of delusions. More studies are needed to understand the meaning of memories of delusions, the commonality of themes and the association between delusions and delirium after an intensive care unit stay.Relevance to clinical practiceUnderstanding patients’ memories of delusions is beneficial to nurses caring for patients that are anxious, upset or agitated. It opens a window to the world of the patient who is unable to communicate due to intubation and general weakness. We recommend the provision of nurse‐led intensive care unit follow‐up enabling patients to describe and discuss their intensive care unit experiences.
A MIXED CONTROL PROBLEM OF THE MANAGEMENT OF NATURAL RESOURCES
Authors: ALVAREZ MARÍA EVANGELINA , DI MARCO SILVIA , ERDLENBRUCH KATRIN , TIDBALL MABEL 
Published: July 2016

AbstractIn this paper, we study the optimal solutions of a model of natural resource management which allows for both impulse and continuous harvesting policies. This type of model is known in the literature as mixed optimal control problem. In the resource management context, each type of control represents a different harvesting technology, which has a different cost. In particular, we want to know when the following conjecture made by Clark is an optimal solution to this mixed optimal control problem: if the harvesting capacity is unlimited, it is optimal to jump immediately to the steady state of the continuous time problem and then to stay there. We show that under a particular relationship between the continuous and the impulse profit function, the conjecture made by Clark is true. In other cases, however, it is either better to use only continuous control variables or to jump to resource levels which are smaller than the steady state and then let the resource grow back to the steady state. These results emphasize the importance of the cost functions in the modeling of natural resource management.
Geographical thinking in nursing inquiry, part two: performance, possibility, and non‐representational theory
Authors: Andrews Gavin J. 
Published: July 2016

AbstractPart one in this two paper series reviewed the nature of geographical thinking in nursing research thus far. The current paper builds on it by looking forwards and providing a particular vision for future research. It argues that it is time to once again look to the parent discipline of human geography for inspiration, specifically to its turn towards non‐representational theory, involving an emphasis on life that onflows prior to meaning, significance, and full cognition; on life's ‘taking‐place’. The paper introduces this way of viewing and animating the world. Some potential connections to nursing research and practice are suggested, as are some specific avenues for future inquiry. Explained is how, through non‐representational theory, nursing might be re‐imagined as something that reveals space‐time.
Evolution of Clinical and Electrophysiological Data in Children with a Preexcitation Syndrome
Authors: BREMBILLA‐PERROT BÉATRICE , SELLAL JEAN‐MARC , OLIVIER ARNAUD , VILLEMIN THIBAUT , MOULIN‐ZINSCH ANNE , BEURRIER DANIEL , LETHOR JEAN‐PAUL , MARÇON FRANÇOIS , DE CHILLOU CHRISTIAN , FELBLINGER JACQUES , VINCENT JULIE 
Published: July 2016

BackgroundWith ablation, the follow‐up of preexcitation syndrome now is difficult to assess. The purpose was to collect data of children with a preexcitation syndrome studied on two separate occasions within a minimal interval of 1 year.MethodsThis is a retrospective chart review of 47 children initially aged 12 ± 4 years, who underwent two or more invasive electrophysiological studies (EPS) within 1–25 years of one another (6.3 ± 4.8) for occurrence of symptoms or new evaluation.ResultsAmong initially symptomatic children (n = 25), four (19%) became asymptomatic and one presented life‐threatening arrhythmia. Among asymptomatic children (n = 22), five became symptomatic (22.7%). Anterograde conduction disappeared in seven of 23 children with initially long accessory pathway‐effective refractory period, but four of six had still induced atrioventricular reentrant tachycardia (AVRT). AVRT was induced at second EPS in three of 13 asymptomatic preexcitation syndrome with negative initial EPS. There were no spontaneous adverse events in the five children with criteria of malignancy at initial EPS; signs of malignancy disappeared in two. At multivariate analysis, AVRT at initial EPS was the only independent factor of symptomatic AVRT during follow‐up. Absence of induced AVRT at initial EPS was the only factor of absence of symptoms and a negative study at the second EPS.ConclusionsThere were no significant changes of data in children after 6.3 ± 4.8 years of follow‐up. Most children with spontaneous/inducible AVRTs at initial EPS had still inducible AVRT at second EPS. Induced AF conducted with high rate has a relatively low prognostic value for the prediction of adverse events.
Atheism and Morality, Guilt and Shame: Why the Moral Complacency of the New Atheism is a Mistake
Authors: Lynch Tony , Dahanayake Nishanathe 
Published: July 2016

AbstractWhen it comes to morality, the New Atheists appear to think that their rejection of religion, except for the removal of fundamentalist distortions, changes nothing. We think that this is because they have not thought things through. Atheism might not be a threat to shame morality, but it is certainly a threat to guilt morality. Given that there are reasons to doubt the viability today of shame morality, we face a far greater problem if atheism triumphs than the New Atheists admit.
Clinical outcomes of Ghanaian Buruli ulcer patients who defaulted from antimicrobial therapy
Authors: Klis S. , Kingma R. A. , Tuah W. , van der Werf T. S. , Stienstra Y. 
Published: July 2016

AbstractObjectivesBuruli ulcer (BU) is a tropical skin disease caused by infection with Mycobacterium ulcerans, which is currently treated with 8 weeks of streptomycin and rifampicin. The evidence to treat BU for a duration of 8 weeks is limited; a recent retrospective study from Australia suggested that a shorter course of antimicrobial therapy might be equally effective. We studied the outcomes of BU in a cohort of Ghanaian patients who defaulted from treatment and as such received less than 8 weeks of antimicrobial therapy.MethodsA number of days of antimicrobial therapy and patient and lesion characteristics were recorded from charts from a cohort of BU patients treated at Nkawie‐Toase hospital between 2008 and 2012. Patients who defaulted from treatment were retrieved, and lesion characteristics and functional limitations were recorded.ResultsAbout 54% of patients defaulted from therapy or wound care. Forty‐seven defaulters with follow‐up completed had received <56 days of antibiotics. 84% of these patients healed after 32 days or less of antibiotics. There appeared to be an increased rate of healing in smaller lesions; 94% of WHO category I lesions had healed after 32 days or less of antibiotics.ConclusionAlthough numbers were small, and a potential for bias exists, our findings suggest that a reduction in the duration of antimicrobial therapy in BU in small, early lesions is feasible. These findings can serve as a basis for future well‐designed studies.
Exercise training preserves vagal preganglionic neurones and restores parasympathetic tonus in heart failure
Authors: Ichige Marcelo H. A. , Santos Carla R. , Jordão Camila P. , Ceroni Alexandre , Negrão Carlos E. , Michelini Lisete C. 
Published: July 2016

Key points
Heart Failure (HF) is accompanied by reduced ventricular function, activation of compensatory neurohormonal mechanisms and marked autonomic dysfunction characterized by exaggerated sympathoexcitation and reduced parasympathetic activity.
With 6 weeks of exercise training, HF‐related loss of choline acetyltransferase (ChAT)‐positive vagal preganglionic neurones is avoided, restoring the parasympathetic tonus to the heart, and the immunoreactivity of dopamine β‐hydroxylase‐positive premotor neurones that drive sympathetic outflow to the heart is reduced. Training‐induced correction of autonomic dysfunction occurs even with the persistence of abnormal ventricular function.
Strong positive correlation between improved parasympathetic tonus to the heart and increased ChAT immunoreactivity in vagal preganglionic neurones after training indicates this is a crucial mechanism to restore autonomic function in heart failure.
AbstractExercise training is an efficient tool to attenuate sympathoexcitation, a hallmark of heart failure (HF). Although sympathetic modulation in HF is widely studied, information regarding parasympathetic control is lacking. We examined the combined effects of sympathetic and vagal tonus to the heart in sedentary (Sed) and exercise trained (ET) HF rats and the contribution of respective premotor and preganglionic neurones. Wistar rats submitted to coronary artery ligation or sham surgery were assigned to training or sedentary protocols for 6 weeks. After haemodynamic, autonomic tonus (atropine and atenolol i.v.) and ventricular function determinations, brains were collected for immunoreactivity assays (choline acetyltransferase, ChATir; dopamine β‐hydroxylase, DBHir) and neuronal counting in the dorsal motor nucleus of vagus (DMV), nucleus ambiguus (NA) and rostroventrolateral medulla (RVLM). HF‐Sed vs. SHAM‐Sed exhibited decreased exercise capacity, reduced ejection fraction, increased left ventricle end diastolic pressure, smaller positive and negative dP/dt, decreased intrinsic heart rate (IHR), lower parasympathetic and higher sympathetic tonus, reduced preganglionic vagal neurones and ChATir in the DMV/NA, and increased RVLM DBHir. Training increased treadmill performance, normalized autonomic tonus and IHR, restored the number of DMV and NA neurones and corrected ChATir without affecting ventricular function. There were strong positive correlations between parasympathetic tonus and ChATir in NA and DMV. RVLM DBHir was also normalized by training, but there was no change in neurone number and no correlation with sympathetic tonus. Training‐induced preservation of preganglionic vagal neurones is crucial to normalize parasympathetic activity and restore autonomic balance to the heart even in the persistence of cardiac dysfunction.
Development of a Novel High-Density [
3
H]Hypoxanthine Scintillation Proximity Assay To Assess Plasmodium falciparum Growth
Authors: de Cózar Cristina , Caballero Iván , Colmenarejo Gonzalo , Sanz Laura M. , Álvarez-Ruiz Emilio , Gamo Francisco-Javier , Cid Concepción 
Published: July 2016

ABSTRACT

The discovery and development of new antimalarial drugs are becoming imperative because of the spread of resistance to current clinical treatments. The lack of robustly validated antimalarial targets and the difficulties with the building in of whole-cell activity in screening hits are hampering target-based approaches. However, phenotypic screens of structurally diverse molecule libraries are offering new opportunities for the identification of novel antimalarials. Several methodologies can be used to determine the whole-cell
in vitro
potencies of antimalarial hits. The [
3
H]hypoxanthine incorporation assay is considered the “gold standard” assay for measurement of the activity of antimalarial compounds against intraerythrocytic forms of
Plasmodium falciparum
. However, the method has important limitations, as the assay is not amenable for high-throughput screening since it remains associated with the 96-well plate format. We have overcome this drawback by adapting the [
3
H]hypoxanthine incorporation method to a 384-well high-density format by coupling a homogeneous scintillation proximity assay (SPA) and thus eliminating the limiting filtration step. This SPA has been validated using a diverse set of 1,000 molecules, including both a representative set from the Tres Cantos Antimalarial Set (TCAMS) of compounds and molecules inactive against whole cells. The results were compared with those from the
P. falciparum
lactate dehydrogenase whole-cell assay, another method that is well established as a surrogate for parasite growth and is amenable for high-throughput screening. The results obtained demonstrate that the SPA-based [
3
H]hypoxanthine incorporation assay is a suitable design that is adaptable to high-throughput antimalarial drug screening and that maintains the features, robustness, and reliability of the standard filtration hypoxanthine incorporation method.
Inhibition of Leishmania mexicana Growth by the Tuberculosis Drug SQ109
Authors: García-García Verónica , Oldfield Eric , Benaim Gustavo 
Published: July 2016

ABSTRACT

We report that the tuberculosis drug SQ109 [
N
-adamantan-2-yl-
N
′-((
E
)-3,7-dimethyl-octa-2,6-dienyl)-ethane-1,2-diamine] has potent activity against the intracellular amastigote form of
Leishmania mexicana
(50% inhibitory concentration [IC
50
], ∼11 nM), with a good selectivity index (>500). It is also active against promastigotes (IC
50
, ∼500 nM) and acts as a protonophore uncoupler, in addition to disrupting Ca
2+
homeostasis by releasing organelle Ca
2+
into the cytoplasm, and as such, it is an interesting new leishmaniasis drug hit candidate.
Short Palate, Lung, and Nasal Epithelial Clone 1 Has Antimicrobial and Antibiofilm Activities against the Burkholderia cepacia Complex
Authors: Ahmad Saira , Tyrrell Jean , Walton William G. , Tripathy Ashutosh , Redinbo Matthew R. , Tarran Robert 
Published: July 2016

ABSTRACT

The opportunistic bacteria of the
Burkholderia cepacia
complex (Bcc) are extremely pathogenic to cystic fibrosis (CF) patients, and acquisition of Bcc bacteria is associated with a significant increase in mortality. Treatment of Bcc infections is difficult because the bacteria are multidrug resistant and able to survive in biofilms. Short palate, lung, and nasal epithelial clone 1 (SPLUNC1) is an innate defense protein that is secreted by the upper airways and pharynx. While SPLUNC1 is known to have antimicrobial functions, its effects on Bcc strains are unclear. We therefore tested the hypothesis that SPLUNC1 is able to impair Bcc growth and biofilm formation. We found that SPLUNC1 exerted bacteriostatic effects against several Bcc clinical isolates, including
B. cenocepacia
strain J2315 (50% inhibitory concentration [IC
50
] = 0.28 μM), and reduced biofilm formation and attachment (IC
50
= 0.11 μM). We then determined which domains of SPLUNC1 are responsible for its antimicrobial activity. Deletions of SPLUNC1's N terminus and α6 helix did not affect its function. However, deletion of the α4 helix attenuated antimicrobial activity, while the corresponding α4 peptide displayed antimicrobial activity. Chronic neutrophilia is a hallmark of CF lung disease, and neutrophil elastase (NE) cleaves SPLUNC1. However, we found that the ability of SPLUNC1 to disrupt biofilm formation was significantly potentiated by NE pretreatment. While the impact of CF on SPLUNC1-Bcc interactions is not currently known, our data suggest that understanding this interaction may have important implications for CF lung disease.