bluuebunny/crossref_metadata_2025_split huggingface dataset:
Development of a research platform for children with arthrogryposis multiplex congenita: study protocol for a pilot registry
Authors: Dahan-Oliel Noémi , Bedard Tanya , Darsaklis Vasiliki Betty , Hall Judith Goslin , van Bosse Harold J P , Hamdy Reggie C 
Published: June 2018

IntroductionArthrogryposis multiplex congenita (AMC) describes a heterogeneous group of conditions with multiple congenital contractures. These conditions may be attributed to genetic or other factors inducing decreased fetal movements, including maternal and paternal factors. Discovering the underlying genetic pathways has important repercussions for prevention, gene therapy and genetic counselling. The current literature mainly consists of small-scale, single-site studies, limiting comparability and pooling of findings across individual studies. A pilot registry for children presenting with AMC is proposed to provide the framework for a large-scale AMC registry. This registry will provide the platform to support high-quality studies to inform the distribution, clinical practice and genetics contributing to this group of conditions.Methods and analysisThe registry will be piloted on 40 families of children from birth to 21 years of age presenting with AMC. Data will be collected on the child (demographic and newborn variables), mother and father (demographic, lifestyle habits and medical history). To promote standardised data collection, a manual of operations will be developed. Descriptive statistics will be used to summarise relevant data, regression analyses will be used to explore associations to generate hypotheses regarding factors contributing to AMC. Qualitative analysis will also be used to better describe the various phenotypes.Ethics and disseminationEthics approval was obtained at the participating sites. The pilot registry will provide the platform for multisite AMC registry that will generate multiple research avenues to enhance current care and establish new therapies. Following this pilot study, the participant selection criteria will be refined and datasets will be expanded to include rehabilitation and surgical interventions, and genetic sequencing. The best timing for the questionnaire administration and frequency of follow-up prior to the implementation of a multisite AMC registry will be determined.
The impact of financial incentives to improve quality indicators in patients with diabetes in Swiss primary care: a protocol for a cluster randomised controlled trial
Authors: Meier Rahel , Muheim Leander , Senn Oliver , Rosemann Thomas , Chmiel Corinne 
Published: June 2018

IntroductionThere is only limited and conflicting evidence on the effectiveness of Pay-for-Performance (P4P) programmes, although they might have the potential to improve guideline adherence and quality of care. We therefore aim to test a P4P intervention in Swiss primary care practices focusing on quality indicators (QI) achievement in the treatment of patients with diabetes.Methods and analysisThis is a cluster-randomised, two-armed intervention study with the primary care practice as unit of randomisation. The control group will receive bimonthly feedback reports containing last data of blood pressure and glycated haemoglobin (HbA1c) measurements. The intervention group will additionally be informed about a financial incentive for each percentage point improved in QI achievement. Primary outcomes are differences in process (measurement of HbA1c) and clinical QI (blood pressure control) between the two groups. Furthermore, we investigate the effect on non-incentivised QIs and on sustainability of the financial incentives. Swiss primary care practices participating in the FIRE (Family Medicine ICPC Research using Electronic Medical Record) research network are eligible for participation. The FIRE database consists of anonymised structured medical routine data from Swiss primary care practices. According to power calculations, 70 of the general practitioners contributing to the database will be randomised in either of the groups.Ethics and disseminationAccording to the Local Ethics Committee of the Canton of Zurich, the project does not fall under the scope of the law on human research and therefore no ethical consent is necessary. Results will be published in a peer-reviewed journal.Trial registration numberISRCTN13305645; Pre-results.
Perturbative solutions of the f(R)-theory of gravity in a central gravitational field and some applications
Authors: Ky Nguyen Anh , Ky Pham Van , Van Nguyen Thi Hong 
Published: June 2018

AbstractExact solutions of an f(R) -theory (of gravity) in a static central (gravitational) field have been studied in the literature quite well, but, to find and study exact solutions in the case of a non-static central field are not easy at all. There are, however, approximation methods of finding a solution in a central field which is not necessarily static. It is shown in this article that an approximate solution of an f(R)-theory in a general central field, which is not necessary to be static, can be found perturbatively around a solution of the Einstein equation in the general theory of relativity. In particular, vacuum solutions are found for f(R) of general and some special forms. Further, applications to the investigation of a planetary motion and light’s propagation in a central field are presented. An effect of an f(R)-gravity is also estimated for the SgrA*–S2 system. The latter gravitational system is much stronger than the Sun–Mercury system, thus the effect could be much stronger and, thus, much more measurable.
Discovery of an Experimental Model of Unicuspid Aortic Valve
Authors: Weiss Robert M. , Chu Yi , Brooks Robert M. , Lund Donald D. , Cheng Justine , Zimmerman Kathy A. , Kafa Melissa K. , Sistla Phanicharan , Doshi Hardik , Shao Jian Q. , El Accaoui Ramzi N. , Otto Catherine M. , Heistad Donald D. 
Published: June 2018

Background

The epithelial growth factor receptor family of tyrosine kinases modulates embryonic formation of semilunar valves. We hypothesized that mice heterozygous for a dominant loss‐of‐function mutation in epithelial growth factor receptor, which are
Egfr

Vel/+

mice, would develop anomalous aortic valves, valve dysfunction, and valvular cardiomyopathy.

Methods and Results

Aortic valves from
Egfr

Vel/+

mice and control mice were examined by light microscopy at 2.5 to 4 months of age. Additional
Egfr

Vel/+

and control mice underwent echocardiography at 2.5, 4.5, 8, and 12 months of age, followed by histologic examination. In young mice, microscopy revealed anatomic anomalies in 79% of
Egfr

Vel/+

aortic valves, which resembled human unicuspid aortic valves. Anomalies were not observed in control mice. At 12 months of age, histologic architecture was grossly distorted in
Egfr

Vel/+

aortic valves. Echocardiography detected moderate or severe aortic regurgitation, or aortic stenosis was present in 38% of
Egfr

Vel/+

mice at 2.5 months of age (N=24) and in 74% by 8 months of age. Left ventricular enlargement, hypertrophy, and reversion to a fetal myocardial gene expression program occurred in
Egfr

Vel/+

mice with aortic valve dysfunction, but not in
Egfr

Vel/+

mice with near‐normal aortic valve function. Myocardial fibrosis was minimal or absent in all groups.

Conclusions
A new mouse model uniquely recapitulates salient functional, structural, and histologic features of human unicuspid aortic valve disease, which are phenotypically distinct from other forms of congenital aortic valve disease. The new model may be useful for elucidating mechanisms by which congenitally anomalous aortic valves become critically dysfunctional.
Long‐Term Mortality of Older Patients With Acute Myocardial Infarction Treated in US Clinical Practice
Authors: Kochar Ajar , Chen Anita Y. , Sharma Puza P. , Pagidipati Neha J. , Fonarow Gregg C. , Cowper Patricia A. , Roe Matthew T. , Peterson Eric D. , Wang Tracy Y. 
Published: June 2018

Background

There is limited information about the long‐term survival of older patients after myocardial infarction (
MI
).

Methods and Results

CRUSADE
(Can rapid risk stratification of unstable angina patients suppress adverse outcomes with early implementation of the ACC/AHA guidelines) was a registry of
MI
patients treated at 568 US hospitals from 2001 to 2006. We linked
MI
patients aged ≥65 years in
CRUSADE
to their Medicare data to ascertain long‐term mortality (defined as 8 years post index event). Long‐term unadjusted Kaplan–Meier mortality curves were examined among patients stratified by revascularization status. A landmark analysis conditioned on surviving the first year post‐
MI
was conducted. We used multivariable Cox regression to compare mortality risks between ST‐segment–elevation myocardial infarction and non–ST‐segment–elevation myocardial infarction patients. Among 22 295
MI
patients ≥ age 65 years (median age 77 years), we observed high rates of evidence‐based medication use at discharge: aspirin 95%, β‐blockers 94%, and statins 81%. Despite this, mortality rates were high: 24% at 1 year, 51% at 5 years, and 65% at 8 years. Eight‐year mortality remained high among patients who underwent percutaneous coronary intervention (49%), coronary artery bypass graft (46%), and among patients who survived the first year post‐
MI
(59%). Median survival was 4.8 years (25th, 75th percentiles 1.1, 8.5); among patients aged 65–74 years it was 8.2 years (3.3, 8.9) while for patients aged ≥75 years it was 3.1 years (0.6, 7.6). Eight‐year mortality was lower among ST‐segment–elevation myocardial infarction than non–ST‐segment–elevation myocardial infarction patients (53% versus 67%); this difference was not significant after adjustment (hazard ratio 0.94, 95% confidence interval, 0.88–1.00).

Conclusions

Long‐term mortality remains high among patients with
MI
in routine clinical practice, even among revascularized patients and those who survived the first year.
Postural Hyperventilation as a Cause of Postural Tachycardia Syndrome: Increased Systemic Vascular Resistance and Decreased Cardiac Output When Upright in All Postural Tachycardia Syndrome Variants
Authors: Stewart Julian M. , Pianosi Paul , Shaban Mohamed A. , Terilli Courtney , Svistunova Maria , Visintainer Paul , Medow Marvin S. 
Published: June 2018

Background

Postural tachycardia syndrome (
POTS
) is a heterogeneous condition. We stratified patients previously evaluated for
POTS
on the basis of supine resting cardiac output (
CO
) or with the complaint of platypnea or “shortness of breath” during orthostasis. We hypothesize that postural hyperventilation is one cause of
POTS
and that hyperventilation‐associated
POTS
occurs when initial reduction in
CO
is sufficiently large. We also propose that circulatory abnormalities normalize with restoration of
CO
2
.

Methods and Results

Fifty‐eight enrollees with POTS were compared with 16 healthy volunteer controls. Low
CO
in
POTS
was defined by a resting supine
CO
<4 L/min. Patients with shortness of breath had hyperventilation with end tidal
CO
2
<30 Torr during head‐up tilt table testing. There were no differences in height or weight between control patients and patients with POTS or differences between the
POTS
groups. Beat‐to‐beat blood pressure was measured by photoplethysmography, and
CO
was measured by ModelFlow. Systemic vascular resistance was defined as mean arterial blood pressure/
CO
. End tidal
CO
2
and cerebral blood flow velocity of the middle cerebral artery were only reduced during head‐up tilt in the hyperventilation group, whereas blood pressure was increased compared with control. We corrected the reduced end tidal
CO
2
in hyperventilation by addition of exogenous
CO
2
into a rebreathing apparatus. With added
CO
2
, heart rate, blood pressure,
CO,
and systemic vascular resistance in hyperventilation became similar to control.

Conclusions

We conclude that all
POTS
is related to decreased
CO
, decreased central blood volume, and increased systemic vascular resistance and that a variant of
POTS
is consequent to postural hyperventilation.
Continuous ST‐Monitoring Function of Implantable Cardioverter Defibrillator Detects Silent Ischemia in Patients With Coronary Artery Disease
Authors: Watanabe Tetsuya , Hirooka Keiji , Furukawa Yoshio , Yabuki Masanori , Hirata Akio , Kashiwase Kazunori , Shutta Ryu , Mine Takanao , Mizuno Hiroya , Tanaka Toshikazu , Doi Takahiro , Yoshida Akihiro , Okuyama Yuji , Nanto Shinsuke 
Published: June 2018

Background
Newer implantable cardioverter defibrillators can monitor intracardiac ECGs , but their ability to detect ischemia is unclear. This study investigated the usefulness of implantable cardioverter defibrillators with an ST‐monitoring function in coronary artery disease patients.

Methods and Results

We conducted a prospective study of implantable cardioverter defibrillator patients with the ST‐monitoring function. One hundred seventy‐three patients who received implantable cardioverter defibrillators for primary or secondary prevention of sudden cardiac death. All patients underwent medical examinations at least every 6 months, with standard 12‐lead ECGs and device checks that included analysis of the ST‐monitoring function. Myocardial perfusion imaging or coronary angiography was performed during the follow‐up. The mean follow‐up duration was 23.3±7.7 months. Significant ST changes occurred in 15 patients (8.7%), of whom 14 were asymptomatic. The incidence of angina pectoris was significantly higher in the ST change (+) group than that in the ST change (−) group (28.6% versus 7.2%,
P
=0.03). In the patients who underwent myocardial perfusion imaging, the sensitivity, specificity, and negative predictive value of the ST‐monitoring feature to detect ischemia were 75.0%, 72.5%, and 93.5%, respectively. The sensitivity, specificity, and negative predictive value of the ST‐monitoring feature to predict residual stenosis evaluated using coronary angiography were 76.9%, 83.5%, and 97.5%, respectively. The percentage of patients with a septal right ventricular lead was significantly lower in the ST change (+) group than in the ST change (−) group (13.5% versus 33.5%,
P
=0.01).

Conclusions
If intracardiac ECGs ST changes are detected, it is necessary to use additional modalities even in asymptomatic patients.

Clinical Trial Registration

URL:
upload.umin.ac.jp
. Unique identifier: UMIN000011824.
A 20-year (1996–2015) trend in deaths as a result of burns in the Transkei subregion of South Africa
Authors: Meel Banwari L 
Published: June 2018

Background Deaths as a result of burns are unrecognised, under-reported and therefore under-estimated, especially in rural areas such as the Transkei subregion of South Africa. Burning to death is painful and preventable. Objective The aim of this study was to investigate a 20-year trend in deaths as a result of burns in the Transkei subregion of South Africa. Method A record review descriptive study was undertaken of all medico-legal autopsies performed from 1996 to 2015 at Mthatha Forensic Pathology Laboratory. Results In total 22,952 medico-legal autopsies were conducted at Mthatha Forensic Pathology Laboratory from 1996 to 2015. Of these, 689 (3%) were burn related. This gives an average of eight deaths resulting from burns per 100,000 of the population annually in this region. The highest rate (11.6/100,000) was recorded in 2007, and the lowest (3.3/100,000) in 2004. Males outnumbered females at a ratio of 1.6:1. Young children of aged 10 years old or younger accounted for 130 of the victims, amounting to a death rate of 1.51/100,000. Conclusion The number of deaths as a result of burning has more than doubled in the last 20 years (1996–2015) in the Transkei subregion of South Africa. Action to prevent these deaths is urgently required.
Application of MRS- and ASL-guided navigation for biopsy of intracranial tumors
Authors: Jin Teng , Ren Yan , Zhang Hua , Xie Qian , Yao Zhenwei , Feng Xiaoyuan 
Published: June 2018

Background The diagnosis of a tumor depends on accurate identification of the target area for biopsy. However, tumor heterogeneity and the inability of conventional structural data for identifying the most malignant areas can reduce this accuracy. Purpose To evaluate the feasibility and practicality of magnetic resonance spectroscopy (MRS)- and arterial spin labeling (ASL)-guided MRI navigation for needle biopsy of intracranial tumors. Material and Methods Thirty patients with intracranial tumors who underwent intraoperative stereotactic biopsy were retrospectively analyzed. Contrast-enhanced 3D-BRAVO or 3D-T2FLAIR structural data, combined with MRS and ASL data, were used to identify the target area for biopsy. High-choline or high-perfusion sites were chosen preferentially, and then the puncture trajectory was optimized to obtain specimens for histopathologic examination. Results Twenty-two specimens were collected from 20 glioma patients (two specimens each were collected from two patients) and ten specimens were collected from ten lymphoma patients. The diagnosis rate after the biopsy was 93.3% (28/30). Two gliomas were initially diagnosed as gliosis and subsequently diagnosed correctly after the collection of a second biopsy specimen. Combined MRS and ASL helped target selection in 23 cases (76.7%), including three cases each of low-enhancing and non-enhancing gliomas. In two cases, the target selection decision was changed because the areas initially chosen on the basis of positron emission tomography data did not match the high-perfusion areas identified with ASL. Conclusion Compared with conventional MRI, combined MRS and ASL improved the accuracy of target selection for the stereotactic biopsy of intracranial tumors.
Aging and chromatoid body assembly: Are these two physiological events linked?
Authors: Santos Elisa G , Silva Maraisa A , Amorim Renata P , Giordano Leticia de Souza , Silva Dayana de Sales , Rasmussen Lucas T , Peruquetti Rita L 
Published: June 2018

The chromatoid body is a cytoplasmic male germ cell structure that plays a role in the regulation of mRNA transcription during spermatogenesis. A proteomic analysis of this structure has identified the presence of its classic molecular markers (MVH and MIWI), as well as a significant number of transient proteins. Circadian locomotor output cycles protein kaput (CLOCK) and brain and muscle ARNT-like 1 (BMAL1), which are molecular components of the circadian clock, are likely located in the chromatoid body in a transient fashion. This study sought to determine whether aging produces morphological changes in the chromatoid bodies of round spermatids similar to those previously observed in BMAL1 knockout mice. A sample of 30 male mice was divided into three groups: juvenile mice (45 days old), adult mice (120 days old), and old mice (+180 days old). Aging was confirmed by viability and sperm count analyses and testosterone dosage. Squash slides prepared with fragments of seminiferous tubules were immunostained for MVH, MIWI, BMAL1, and CLOCK detection. In juvenile and adult specimens, single round chromatoid bodies were observed using MVH/BMAL1 and MIWI/CLOCK immunostaining. In old specimens, many chromatoid bodies displayed changes in number and morphology, as well as an increase in the interactions between MVH and BMAL1; MIWI and CLOCK. Changes in chromatoid body morphology increased interactions between the proteins analyzed herein, and decreased amounts of these proteins in seminiferous tubules of older mice may indicate that aging influences the assembly and physiology of chromatoid bodies, which may, in turn, affect fertility. Impact statement The results discussed in this paper indicate that aging compromises the structure and physiology of chromatoid bodies (CBs) in post-meiotic male cells. Since CB is a fundamental structure for the differentiation of the mature male germ cell it is possible that this imbalance in CB physiology may play a role in the reduction of fertility in older men. It is important to note that not only the classic CB markers (such as the MIWI and MVH proteins) were used to showcase the structural changes in the CBs but also the main components of circadian cycle control (the CLOCK and BMAL1 proteins), indicating that the reduction of circadian control in aged males may contribute to these changes in CBs as well. Therefore, it is intriguing to evaluate the hypothesis that controlling these physiological/structural changes in CBs may be a way of delaying the effects of aging in males.
Shooting up? Analysis of 182 gunshot injuries presenting to a London major trauma centre over a seven-year period
Authors: Norton J , Whittaker G , Kennedy DS , Jenkins JM , Bew D 
Published: June 2018

Introduction Metropolitan Police data, and those from the emergency department at a London major trauma centre show a resurgence in gun crime. The aim of this study was to collect data on all gunshot injuries over a seven-year period at South-East London’s trauma hub. Materials and methods This was a retrospective observational study of all gunshot injuries between 1 January 2010 and 31 December 2016 at a London major trauma centre. Information regarding patient demographics, morbidity and mortality was collected. Data from the English indices of multiple deprivation were reviewed in relation to shooting locations and socioeconomic status in South-East London. Results A total of 182 patients from 939,331 emergency admissions presented with firearm injuries. Males comprised 178 (97.8%) victims and 124 (68.1%) were documented as being Black or Afro-Caribbean. The median age was 22 years. Some 124 (71.7%) victims were shot within a 4 km radius of the hospital. The mean indices of multiple deprivation decile ranking in shooting locations compared with non-shooting locations was 2.6 (± 0.1384) and 3.8 (± 0.1149), respectively. A total of 122 (67.0%) patients underwent specialist operative intervention and 111 (61.0%) suffered only superficial or musculoskeletal injuries. Six patients required emergency thoracotomies; three (50.0%) survived to discharge. The median length of stay was 4 days (interquartile range 2–9 days) and 35 (24.0%) were admitted to intensive care. Ten (5.5%) patients died. Discussion and conclusion Firearms injuries are increasing and place a significant burden on hospital resources. Care provided to gunshot victims has improved as a result of recent trauma management initiatives at South-East London’s major trauma centre.
The effect of consultant outcome publication on surgeon behaviour: a systematic review and narrative synthesis
Authors: Williams MP , Modgil V , Drake MJ , Keeley F 
Published: June 2018

Introduction Surgeon-specific outcome data, or consultant outcome publication, refers to public access to named surgeon procedural outcomes. Consultant outcome publication originates from cardiothoracic surgery, having been introduced to US and UK surgery in 1991 and 2005, respectively. It has been associated with an improvement in patient outcomes. However, there is concern that it may also have led to changes in surgeon behaviour. This review assesses the literature for evidence of risk-averse behaviour, upgrading of patient risk factors and cessation of low-volume or poorly performing surgeons. Materials and methods A systematic literature review of Embase and Medline databases was performed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analysis guidelines. Original studies including data on consultant outcome publication and its potential effect on surgeon behaviour were included. Results Twenty-five studies were identified from the literature search. Studies suggesting the presence of risk-averse behaviour and upgrading of risk factors tended to be survey based, with studies contrary to these findings using recognised regional and national databases. Discussion and conclusion Our review includes instances of consultant outcome publication leading to risk-averse behaviour, upgrading of risk factors and cessation of low-volume or poorly performing surgeons. As UK data on consultant outcome publication matures, further research is essential to ensure that high-risk patients are not inappropriately turned down for surgery.