bluuebunny/crossref_metadata_2025_split huggingface dataset:
Central Nervous System Tuberculosis
Authors: Leonard John M. 
Published: March 2017

ABSTRACTCentral nervous system tuberculosis (CNS-TB) takes three clinical forms: meningitis (TBM), intracranial tuberculoma, and spinal arachnoiditis. TBM predominates in the western world and presents as a subacute to chronic meningitis syndrome with a prodrome of malaise, fever, and headache progressing to altered mentation and focal neurologic signs, followed by stupor, coma, and death within five to eight weeks of onset. The CSF formula typically shows a lymphocytic pleocytosis, and low glucose and high protein concentrations. Diagnosis rests on serial samples of CSF for smear and culture, combined with CSF PCR. Brain CT and MRI aid in diagnosis, assessment for complications, and monitoring of the clinical course. In a patient with compatible clinical features, the combination of meningeal enhancement and any degree of hydrocephalus is strongly suggestive of TBM. Vasculitis leading to infarcts in the basal ganglia occurs commonly and is a major determinant of morbidity and mortality. Treatment is most effective when started in the early stages of disease, and should be initiated promptly on the basis of strong clinical suspicion without waiting for laboratory confirmation. The initial 4 drug regimen (isoniazid, rifampin, pyrazinamide, ethambutol) covers the possibility of infection with a resistant strain, maximizes antimicrobial impact, and reduces the likelihood of emerging resistance on therapy. Adjunctive corticosteroid therapy has been shown to reduce morbidity and mortality in all but late stage disease.
Association of comorbidity and health service usage among patients with dementia in the UK: a population-based study
Authors: Browne Jorge , Edwards Duncan A , Rhodes Kirsty M , Brimicombe D James , Payne Rupert A 
Published: March 2017

BackgroundThe majority of people with dementia have other long-term diseases, the presence of which may affect the progression and management of dementia. This study aimed to identify subgroups with higher healthcare needs, by analysing how primary care consultations, number of prescriptions and hospital admissions by people with dementia varies with having additional long-term diseases (comorbidity).MethodsA retrospective cohort study based on health data from the Clinical Practice Research Datalink (CPRD) was conducted. Incident cases of dementia diagnosed in the year starting 1/3/2008 were selected and followed for up to 5 years. The number of comorbidities was obtained from a set of 34 chronic health conditions. Service usage (primary care consultations, hospitalisations and prescriptions) and time-to-death were determined during follow-up. Multilevel negative binomial regression and Cox regression, adjusted for age and gender, were used to model differences in service usage and death between differing numbers of comorbidities.ResultsData from 4999 people (14 866 person-years of follow-up) were analysed. Overall, 91.7% of people had 1 or more additional comorbidities. Compared with those with 2 or 3 comorbidities, people with ≥6 comorbidities had higher rates of primary care consultations (rate ratio (RR) 1.31, 95% CI 1.25 to 1.36), prescriptions (RR 1.68, 95% CI 1.57 to 1.81), and hospitalisation (RR 1.62, 95% CI 1.44 to 1.83), and higher risk of death (HR 1.56, 95% CI 1.37 to 1.78).DiscussionIn the UK, people with dementia with higher numbers of comorbidities die earlier and have considerably higher health service usage in terms of primary care consultations, hospital admissions and prescribing. This study provides strong evidence that comorbidity is a key factor that should be considered when allocating resources and planning care for people with dementia.
Multicentre randomised study of the effect and experience of an early inhome programme (PreHomeCare) for preterm infants using video consultation and smartphone applications compared with inhospital consultations: protocol of the PreHomeCare study
Authors: Hägi-Pedersen Mai-Britt , Norlyk Annelise , Dessau Ram , Stanchev Hristo , Kronborg Hanne 
Published: March 2017

IntroductionAlthough premature infants and their parents are discharged earlier to inhomecare programmes, how to optimally support parents during this transition remains unknown. The aim of this study is to compare the effects of early inhomecare (PreHomeCare) including video consultations and mobile applications with those of inhospital consultations regarding breast feeding, parental confidence and parent–infant interactions.Methods and analysisA randomised controlled intervention study will be conducted in four neonatal departments offering PreHomeCare (ie, premature infant inhomecare) in Denmark. Parents of hospitalised premature infants who fulfil the inclusion criteria for PreHomeCare will be randomised during hospitalisation to either the intervention (n=80) or control group (n=80) using 1:1 block randomisation. During PreHomeCare, the intervention group will receive a smartphone application with a video system and an infant scale, and the control group will receive usual care (ie, hospital consultations). Additionally, both groups will have planned nurse consultations two to three times a week: the intervention group through video consultations and the control group through inhospital consultations. Data collection will occur at inclusion/baseline, at the end of PreHomeCare and 1 month after discharge using questionnaires and hospital records. The primary outcome is the proportion of exclusively breastfed infants 1 month after discharge/end of PreHomeCare, the secondary outcomes are parent–infant interactions measured by the Mother and baby interaction scale and family confidence in caring for infants measured by the Karitane Parenting Confidence Scale. The process evaluation will consist of two qualitative studies: a field study and an interview study. Data collection will initially involve field observations of three scheduled video consultations with six families from the intervention group. These families will also be interviewed 1 month after PreHomeCare has ended.Ethics and disseminationThe project has been approved by the Regional Ethics Committee and the Danish Data Protection Agency.Trial registration numberNCT02581800.
Incidence and relative risk for developing cancer among patients with COPD: a nationwide cohort study in Taiwan
Authors: Ho Chung-Han , Chen Yi-Chen , Wang Jhi-Joung , Liao Kuang-Ming 
Published: March 2017

ObjectivesThis observational study aimed to examine the incidence of malignant diseases, including specific cancer types, after the diagnosis of chronic obstructive pulmonary disease (COPD) in Taiwanese patients.SettingTaiwan's National Health Insurance Research Database.ParticipantsThe definition of a patient with COPD was a patient with a discharge diagnosis of COPD or at least 3 ambulatory visits for COPD. The index date was the date of the first COPD diagnosis. Patients with a history of malignancy disorders before the index date were excluded. After matching age and gender, 13 289 patients with COPD and 26 578 control participants without COPD were retrieved and analysed. They were followed from the index date to malignancy diagnosis, death or the end of study follow-up (31 December 2011), whichever came first.Primary outcome measuresPatients were diagnosed with cancer (n=1681, 4.2%; 973 (7.3%) for patients with COPD and 728 (2.7%) for patients without COPD). The risk of 7 major cancer types, including lung, liver, colorectal, breast, prostate, stomach and oesophagus, between patients with COPD and patients without COPD was also estimated.ResultsThe mean age of all study participants was 57.9±13.5 years. The average length of follow-up to cancer incidence was 3.9 years for patients with COPD and 5.0 years for patients without COPD (p<0.01). Patients with COPD were diagnosed with cancer (n=973, 73%) at a significantly higher rate than patients without COPD (n=708, 2.7%; p<0.01). The HR for developing cancer in patients with COPD was 2.8 (95% CI 2.6 to 3.1) compared with patients without COPD after adjusting for age, sex and comorbidities. The most common cancers in patients with COPD include lung, liver, colorectal, breast, prostate and stomach cancers.ConclusionsThe risk of developing cancer is higher in patients with COPD compared with patients without COPD. Cancer screening is warranted in patients with COPD.
Facilitators and barriers to chlamydia testing in general practice for young people using a theoretical model (COM-B): a systematic review protocol
Authors: McDonagh Lorraine K , Saunders John M , Cassell Jackie , Bastaki Hamad , Hartney Thomas , Rait Greta 
Published: March 2017

IntroductionChlamydia is a key health concern with high economic and social costs. There were over 200 000 chlamydia diagnoses made in England in 2015. The burden of chlamydia is greatest among young people where the highest prevalence rates are found. Annual testing for sexually active young people is recommended; however, many of those at risk do not receive testing. General practice has been identified as an ideal setting for testing, yet efforts to increase testing in this setting have not been effective. One theoretical model which may provide insight into the underpinnings of chlamydia testing is the Capability, Opportunity and Motivation Model of Behaviour (COM-B model). The aim of this systematic review is to: (1) identify barriers and facilitators to chlamydia testing for young people in general practice and (2) use a theoretical model to conduct a behavioural analysis of chlamydia testing behaviour.Methods and analysisQualitative, quantitative and mixed methods studies published after 2000 will be included. Seven databases (MEDLINE, PubMed, EMBASE, Informit, PsycInfo, Scopus, Web of Science) will be searched to identify peer-reviewed publications which examined barriers and facilitators to chlamydia testing in general practice. Risk of bias will be assessed using the Critical Appraisal Skills Programme. Data regarding study design and key findings will be extracted. The data will be analysed using thematic analysis and the resultant factors will be mapped onto the COM-B model components. All findings will be reported in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines.Ethics and disseminationEthical approval is not required. The results will be disseminated via submission for publication to a peer-review journal when complete and for presentation at national and international conferences. The review findings will be used to inform the development of interventions to facilitate effective and efficient chlamydia testing in general practice.
Large-scale implementation of the I-PASS handover system at an academic medical centre
Authors: Shahian David M , McEachern Kayla , Rossi Laura , Chisari Roger Gino , Mort Elizabeth 
Published: March 2017

BackgroundHealthcare has become increasingly complex and care delivery models have changed dramatically (eg, team-based care, duty-hour restrictions). However, approaches to critical communications among providers have not evolved to meet these new challenges. Evidence from safety culture surveys, academic studies and malpractice claims suggests that healthcare handover quality is problematic, leading to preventable errors and adverse outcomes. To address this concern, from 2013 to 2016 Massachusetts General Hospital completed phase I of a multifaceted programme to implement standardised, structured handovers across all departments, units and direct care providers.MethodsA multidisciplinary Handovers Committee selected the I-PASS handover system. Phase I implementation focused on large-scale training and shift-to-shift handovers. Important features included administrative and clinical leadership support; EHR templates for I-PASS; hospital handover policy revision; varied educational modalities, venues and durations; concomitant TeamSTEPPS training; unit-level I-PASS champions; handover observations; and solicitation of caregiver feedback and suggestions.ResultsMore than 6000 doctors, nurses and therapists have been trained. Trended observation scores demonstrate progressive but non-uniform adoption of I-PASS, with significant improvements in the correct sequencing and percentage of I-PASS elements included in handovers. Adoption of Synthesis (readback) has been challenging, with lower scores.ConclusionsComprehensive I-PASS implementation in a large academic medical centre necessitated major cultural change. I-PASS education is straightforward, whereas assuring consistent and sustained adoption across all services is more challenging, requiring adaptation of the basic I-PASS structure to local needs and workflows. EHR I-PASS templates facilitated caregiver acceptance. Initial phase I results are encouraging and the lessons learned should be helpful to other programmes planning handover initiatives. Phase II is ongoing, focusing on more uniform and consistent adoption, spread and sustainability.
Homozygous mutation inNUP107leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome
Authors: Rosti Rasim Ozgur , Sotak Bethany N , Bielas Stephanie L , Bhat Gifty , Silhavy Jennifer L , Aslanger Ayca Dilruba , Altunoglu Umut , Bilge Ilmay , Tasdemir Mehmet , Yzaguirrem Amanda D , Musaev Damir , Infante Sofia , Thuong Whitney , Marin-Valencia Isaac , Nelson Stanley F , Kayserili Hulya , Gleeson Joseph G 
Published: March 2017

BackgroundMicrocephaly with nephrotic syndrome is a rare co-occurrence, constituting the Galloway-Mowat syndrome (GAMOS), caused by mutations inWDR73(OMIM: 616144). However, not all patients harbour demonstrableWDR73deleterious variants, suggesting that there are other yet unidentified factors contributing to GAMOS aetiology.MethodsAutozygosity mapping and candidate analysis was used to identify deleterious variants in consanguineous families. Analysis of patient fibroblasts was used to study splicing and alterations in cellular function.ResultsIn two consanguineous families with five affected individuals from Turkey with a GAMOS-like presentation, we identified a shared homozygous variant leading to partial exon 4 skipping innucleoporin, 107-KD(NUP107). The founder mutation was associated with concomitant reduction in NUP107 protein and in the obligate binding partner NUP133 protein, as well as density of nuclear pores in patient cells.ConclusionRecently,NUP107was suggested as a candidate in a family with nephrotic syndrome and developmental delay. OtherNUP107-reported cases had isolated renal phenotypes. With the addition of these individuals, we implicate an allele-specific critical role forNUP107in the regulation of brain growth and a GAMOS-like presentation.
Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation
Authors: Mirabello Lisa , Khincha Payal P , Ellis Steven R , Giri Neelam , Brodie Seth , Chandrasekharappa Settara C , Donovan Frank X , Zhou Weiyin , Hicks Belynda D , Boland Joseph F , Yeager Meredith , Jones Kristine , Zhu Bin , Wang Mingyi , Alter Blanche P , Savage Sharon A 
Published: March 2017

BackgroundDiamond-Blackfan anaemia (DBA) is an inherited bone marrow failure syndrome (IBMFS) characterised by erythroid hypoplasia. It is associated with congenital anomalies and a high risk of developing specific cancers. DBA is caused predominantly by autosomal dominant pathogenic variants in at least 15 genes affecting ribosomal biogenesis and function. Two X-linked recessive genes have been identified.ObjectivesWe aim to identify the genetic aetiology of DBA.MethodsOf 87 families with DBA enrolled in an institutional review board-approved cohort study (ClinicalTrials.gov Identifier:NCT00027274), 61 had genetic testing information available. Thirty-five families did not have a known genetic cause and thus underwent comprehensive genomic evaluation with whole exome sequencing, deletion and CNV analyses to identify their disease-associated pathogenic variant. Controls for functional studies were healthy mutation-negative individuals enrolled in the same study.ResultsOur analyses uncovered heterozygous pathogenic variants in two previously undescribed genes in two families. One family had a non-synonymous variant (p.K77N) inRPL35; the second family had a non-synonymous variant (p. L51S) inRPL18. Both of these variants result in pre-rRNA processing defects. We identified heterozygous pathogenic variants in previously known DBA genes in 16 of 35 families. Seventeen families who underwent genetic analyses are yet to have a genetic cause of disease identified.ConclusionsOverall, heterozygous pathogenic variants in ribosomal genes were identified in 44 of the 61 families (72%). De novo pathogenic variants were observed in 57% of patients with DBA. Ongoing studies of DBA genomics will be important to understand this complex disorder.
Specialist intervention is associated with improved patient outcomes in patients with decompensated heart failure: evaluation of the impact of a multidisciplinary inpatient heart failure team
Authors: Masters Jayne , Morton Geraint , Anton Isabel , Szymanski Jane , Greenwood Elizabeth , Grogono Joanna , Flett Andrew S , Cleland John G F , Cowburn Peter J 
Published: March 2017

ObjectiveThe study aimed to evaluate the impact of a multidisciplinary inpatient heart failure team (HFT) on treatment, hospital readmissions and mortality of patients with decompensated heart failure (HF).MethodsA retrospective service evaluation was undertaken in a UK tertiary centre university hospital comparing 196 patients admitted with HF in the 6 months prior to the introduction of the HFT (pre-HFT) with all 211 patients seen by the HFT (post-HFT) during its first operational year.ResultsThere were no significant differences in patient baseline characteristics between the groups. Inpatient mortality (22% pre-HFT vs 6% post-HFT; p<0.0001) and 1-year mortality (43% pre-HFT vs 27% post-HFT; p=0.001) were significantly lower in the post-HFT cohort. Post-HFT patients were significantly more likely to be discharged on loop diuretics (84% vs 98%; p=<0.0001), ACE inhibitors (65% vs 76%; p=0.02), ACE inhibitors and/or angiotensin receptor blockers (83% vs 91%; p=0.02), and mineralocorticoid receptor antagonists (44% vs 68%; p<0.0001) pre-HFT versus post-HFT, respectively. There was no difference in discharge prescription rates of beta-blockers (59% pre-HFT vs 63% post-HFT; p=0.45).The mean length of stay (17±19 days pre-HFT vs 19±18 days post-HFT; p=0.06), 1-year all-cause readmission rates (46% pre-HFT vs 47% post-HFT; p=0.82) and HF readmission rates (28% pre-HFT vs 20% post-HFT; p=0.09) were not different between the groups.ConclusionsThe introduction of a specialist inpatient HFT was associated with improved patient outcome. Inpatient and 1-year mortality were significantly reduced. Improved use of evidence-based drug therapies, more intensive diuretic use and multidisciplinary care may contribute to these differences in outcome.
Association of genetic variant and platelet function in patients undergoing neuroendovascular stenting
Authors: Li Xin-Gang , Ma Ning , Sun Shu-Sen , Xu Zhe , Li Wei , Wang Yong-Jun , Yang Xin , Miao Zhong-Rong , Zhao Zhi-Gang 
Published: March 2017

ABSTRACTIntroductionThe risk of recurrent ischaemic events is related to platelet function, which is often assessed by thromboelastography (TEG). TEG has high interindividual variability.ObjectiveTo identify causal variants associated with TEG parameters in patients who receive aspirin and clopidogrel after intra- or extracranial stenting.MethodsPatients who underwent stenting for extracranial or intracranial stenosis (70–99%) were recruited into the study. Blood samples were obtained for TEG to assess the platelet function before stenting. Aspirin- and clopidogrel-related genetic polymorphisms were determined by the MassARRAY method. Minor allele frequency and Hardy–Weinberg equilibrium (HWE) tests and linkage disequilibrium (LD) analysis were carried out. The influences of genetic polymorphism on TEG parameters were analysed by linear regression.ResultsA total of 249 patients were included in this study. Twenty-two selected single nucleotide polymorphisms (SNPs) were genotyped, and no significant deviation from HWE was found for any SNP in the study patients. Four SNPs—rs2104543, rs12772169, rs1998591 and rs1042194—within CYP2C18 were in high LD, and the genetic polymorphisms had a significant impact on the TEG parameters maximal clot strength (MAThrombin) and ADP-induced platelet–fibrin clot strength (MAADP). Patients who carried the loss-of-function CYP2C19*2 (rs4244285) allele were also at risk of increased MAThrombin and MAADP.ConclusionsTesting for these polymorphisms may be valuable in the identification of patients at high risk of recurrent ischaemic events. Alternative treatments may be considered for these high-risk patients.Trial registration numberNCT01925872
Binary cluster model calculations for 20Ne and 44Ti nuclei
Authors: Koyuncu F. , Soylu A. , Bayrak O. 
Published: March 2017

The elastic scattering data of [Formula: see text] and [Formula: see text] systems at [Formula: see text] = 32.2–146 MeV and [Formula: see text] = 24.1–49.5 MeV energies have been analyzed with double-folding (DF) potential in optical model formalism in order to investigate the cluster structures of [Formula: see text]Ne and [Formula: see text]Ti nuclei. The deduced DF potentials between [Formula: see text] and [Formula: see text]O as well as [Formula: see text] and [Formula: see text]Ca have been used for obtaining the excitation energies and [Formula: see text]-decay widths of [Formula: see text]Ne and [Formula: see text]Ti in Gamow code, but the reasonable results could not be obtained. Thus, the real parts of DF potentials which are in the best agreement with experimental data have been fitted with the squared-Woods–Saxon (WS2) potential parameters to calculate the [Formula: see text]-decay widths of [Formula: see text]Ne and [Formula: see text]Ti with Wentzel–Kramers–Brillouin (WKB) approach. The nuclear potential sets obtained in WKB calculations are also used for Gamow code calculations. We take into account the deformation and orientation of [Formula: see text]Ca nucleus to examine their influence on both the excitation energies and decay widths of [Formula: see text]Ti. Besides, by using the binary cluster model the rotational band energies and electromagnetic transition probabilities (BE2)s according to angles are also reproduced for both nuclei. The obtained results showed that the binary cluster model is very useful to understand the observables of [Formula: see text]Ne and [Formula: see text]Ti nuclei. Although only spherical calculations are made for [Formula: see text]Ne ([Formula: see text] + [Formula: see text]O), the deformation in [Formula: see text]Ca would be important for the understanding of [Formula: see text]Ti ([Formula: see text] + [Formula: see text]Ca) cluster structure. The mechanism presented here would also be applied to understand the cluster structures in heavy nuclei.