bluuebunny/crossref_metadata_2025_split huggingface dataset:
Familial Ebstein Anomaly
Authors: Mercer Catherine L. , Andreoletti Gaia , Carroll Aisling , Salmon Anthony P. , Temple I. Karen , Ennis Sarah 
Published: December 2017

Background—
Familial Ebstein anomaly is a rare form of congenital heart disease. We report 7 individuals among 2 generations of 1 family with Ebstein anomaly. This family was first reported in 1991 by Balaji et al in which family members were also reported to have a mild skeletal phenotype. The most likely mechanism of inheritance was concluded to be autosomal dominant. We sought to identify the genetic pathogenesis in this family using a next generation sequencing approach.

Methods and Results—

Whole exome sequencing was performed in 2 cousins in this family using the Agilent SureSelect Human all Exon 51 Mb version 5 capture kit. Data were processed through an analytic in-house pipeline. Whole exome sequencing identified a missense mutation in
FLNA
(Filamin A), an actin-binding protein located at Xq28, mutations in which are associated with the skeletal phenotypes Frontometaphyseal dysplasia, Otopalatodigital, and Melnick–Needles syndrome, with X-linked periventricular nodular heterotopia and FG syndrome (Omim, 305450). Review of the phenotypes of those with the mutation in this family shows increased severity of the cardiac phenotype and associated skeletal features in affected males, consistent with X-linked inheritance.

Conclusions—

Although congenital heart disease is reported in families with mutations in
FLNA
, this is the first report of individuals being affected by Ebstein anomaly because of a mutation in this gene and details the concurrent skeletal phenotype observed in this family.
Personalized Anticoagulation
Authors: Ravvaz Kourosh , Weissert John A. , Ruff Christian T. , Chi Chih-Lin , Tonellato Peter J. 
Published: December 2017

Background—
Clinical trials testing pharmacogenomic-guided warfarin dosing for patients with atrial fibrillation have demonstrated conflicting results. Non–vitamin K antagonist oral anticoagulants are expensive and contraindicated for several conditions. A strategy optimizing anticoagulant selection remains an unmet clinical need.

Methods and Results—
Characteristics from 14 206 patients with atrial fibrillation were integrated into a validated warfarin clinical trial simulation framework using iterative Bayesian network modeling and a pharmacokinetic–pharmacodynamic model. Individual dose–response for patients was simulated for 5 warfarin protocols—a fixed-dose protocol, a clinically guided protocol, and 3 increasingly complex pharmacogenomic-guided protocols. For each protocol, a complexity score was calculated using the variables predicting warfarin dose and the number of predefined international normalized ratio (INR) thresholds for each adjusted dose. Study outcomes included optimal time in therapeutic range ≥65% and clinical events. A combination of age and genotype identified different optimal protocols for various subpopulations. A fixed-dose protocol provided well-controlled INR only in normal responders ≥65, whereas for normal responders <65 years old, a clinically guided protocol was necessary to achieve well-controlled INR. Sensitive responders ≥65 and <65 and highly sensitive responders ≥65 years old required pharmacogenomic-guided protocols to achieve well-controlled INR. However, highly sensitive responders <65 years old did not achieve well-controlled INR and had higher associated clinical events rates than other subpopulations.

Conclusions—
Under the assumptions of this simulation, patients with atrial fibrillation can be triaged to an optimal warfarin therapy protocol by age and genotype. Clinicians should consider alternative anticoagulation therapy for patients with suboptimal outcomes under any warfarin protocol.
Toward Genetics-Driven Early Intervention in Dilated Cardiomyopathy
Authors: Kinnamon Daniel D. , Morales Ana , Bowen Deborah J. , Burke Wylie , Hershberger Ray E. , Hershberger Ray E. , Kinnamon Daniel D. , Morales Ana , Gastier-Foster Julie M. , Burke Wylie , Bowen Deborah J. , Nickerson Deborah A. , Dorschner Michael O. , Haas Garrie , Abraham William , Binkley Philip , Hasan Ayesha , Host Jennifer , Lampert Brent , Smith Sakima , Huggins Gordon , DeNofrio David , Kiernan Michael , Fishbein Daniel , Cheng Richard , Dardas Todd , Levy Wayne , Mahr Claudius , Masri Sofia , Stempien-Otero April , Gottlieb Stephen , Wheeler Matthew , Ashley Euan , Platt Julia , Hofmeyer Mark , Tang Wilson , Starling Randall , Moran Rocio , Owens Anjali , Marguilies Kenneth , Cappola Thomas , Goldberg Lee , Brozena Susan , Rame J. , McLean Rhondalyn , Moore Charles , deShazo Matthew , Long Robert , Jimenez Carcamo Francisco , Hrachian-Haftevani Hakop , Trachtenberg Barry , Ashrith Guhu , Bhimarahj Arvind , Estep Jerry , Sweitzer Nancy , Bustamante Carlos D. , Jarvik Gail P. , Martin Eden R. , Rehm Heidi , Desvigne-Nickens Patrice , Troendle, James , Fu Yi-Ping , Hindorff Lucia 
Published: December 2017

Background—
The cause of idiopathic dilated cardiomyopathy (DCM) is unknown by definition, but its familial subtype is considered to have a genetic component. We hypothesize that most idiopathic DCM, whether familial or nonfamilial, has a genetic basis, in which case a genetics-driven approach to identifying at-risk family members for clinical screening and early intervention could reduce morbidity and mortality.

Methods—

On the basis of this hypothesis, we have launched the National Heart, Lung, and Blood Institute- and National Human Genome Research Institute-funded DCM Precision Medicine Study, which aims to enroll 1300 individuals (600 non-Hispanic African ancestry, 600 non-Hispanic European ancestry, and 100 Hispanic) who meet rigorous clinical criteria for idiopathic DCM along with 2600 of their relatives. Enrolled relatives will undergo clinical cardiovascular screening to identify asymptomatic disease, and all individuals with idiopathic DCM will undergo exome sequencing to identify relevant variants in genes previously implicated in DCM. Results will be returned by genetic counselors 12 to 14 months after enrollment. The data obtained will be used to describe the prevalence of familial DCM among idiopathic DCM cases and the genetic architecture of idiopathic DCM in multiple ethnicity–ancestry groups. We will also conduct a randomized controlled trial to test the effectiveness of
Family Heart Talk
, an intervention to aid family communication, for improving uptake of preventive screening and surveillance in at-risk first-degree relatives.

Conclusions—
We anticipate that this study will demonstrate that idiopathic DCM has a genetic basis and guide best practices for a genetics-driven approach to early intervention in at-risk relatives.

Clinical Trial Registration—

URL:
http://www.clinicaltrials.gov
. Unique identifier: NCT03037632.
(In)formal Migrant Settlements and Right to Respect for a Home
Authors: Slingenberg Lieneke , Bonneau Louise 
Published: December 2017

Abstract
Across European cities, migrants without access to state facilities, resort to living in ‘makeshift camps’ or squats. These settlements are usually evacuated and demolished by state authorities. Instead of discussing the state’s positive obligation to provide decent housing, this article focusses solely on the state’s negative obligations under the right to respect for a home as laid down in Article 8 of the European Convention of Human Rights (echr). Drawing upon the cases of Calais and Amsterdam, this article scrutinizes domestic case law about evictions from (in)formal migrant settlements and compares that to case law of the European Court of Human Rights (ECtHR). We argue that the ECtHR case law provides a relevant framework that should be used to evaluate the legitimacy of evictions and destructions of (in)formal migrants’ settlements. Despite the fact that applying this framework would not entail a complete ban on evictions, it would provide some welcome (procedural and substantive) protection for migrants.
UNCTAD’s World Investment Reports 1991–2015: 25 Years of Narratives Justifying and Balancing Foreign Investor Rights
Authors: Perrone Nicolás M. 
Published: December 2017

Abstract
This article examines an influential narrative of foreign investor rights and the international investment regime. It draws on twenty-five of the World Investment Reports (WIRs) issued by the United Nations Conference on Trade and Development (1991–2015). It argues that the justifications provided by these reports have contributed to shaping a global commodity conception of property. These WIRs describe foreign investor rights following a narrative of wealth maximisation by transnational corporations (TNCs), and focus on a TNC-assisted restructuring of host states and local communities. Since the mid-2000s, these reports have balanced this narrative because of the increasing consensus that international investment treaties unduly constrain regulatory space. Ultimately, however, this article shows that the recent WIRs promote an approach to public regulation that is not inconsistent with a global commodity conception of property.
On Investment Law and Questions of Change
Authors: Paine Joshua 
Published: December 2017

Abstract
This article analyses the various ways in which investment law raises questions of change. It distinguishes between changes in international investment norms, and changes in a host state’s regulatory system which is subject to the control of such norms, and explains how these different manifestations of change relate to the distinct yet interrelated issues of interpretation and application. The article explains why, given features of the contemporary investment regime, on questions of interpretation, concerning the content of international investment norms, arbitrators operate within wider processes of law-development over which states, as treaty masters, also exercise significant influence. In contrast, arbitrators dominate the process of applying international investment norms to particular investor-state disputes to determine whether changes in a host state’s regulatory system breach applicable investment norms. This claim is demonstrated in relation to the two most prominent investment treaty standards: fair and equitable treatment, and the protection against indirect expropriation.
Medical Knowledge in ʿAlī Ufuḳī’s Musical Notebook (Mid-17th Century)
Authors: Haug Judith I. 
Published: December 2017

Captured by Tatars as a young man and sold to the Sultan’s court, the Polish-Ottoman court musician and interpreter ʿAlī Ufuḳī (Albert/Wojciech Bobowski, c. 1610–1675) was a bicultural personality with widespread interest in different areas of learning. His priceless notation collection (MS Paris, Bibliothèque Nationale de France, Turc 292) also contains a wealth of medical texts both European and Ottoman, copied or excerpted from existing sources, as well as personal notes and case descriptions. European and Ottoman medical knowledge is presented side by side as encountered and found worthwhile by ʿAlī Ufuḳī, who evidently had access to drugs and treated at least himself. Among a group of personal observations, case studies from plague outbreaks of the 1640s stand out for their historical importance. MS Turc 292 is the personal document of a transcultural personality capable of benefiting from a diverse environment that encouraged transfer and exchange of knowledge.
Mapping the Balint groups to the Accreditation Council for Graduate Medical Education family medicine competencies
Authors: Lichtenstein Albert , Antoun Jumana , Rule Chris , Knowlton Katherine , Sternlieb Jeffrey 
Published: December 2017

Introduction Balint group discussions provide learning opportunities for many of the competencies and milestones put forward by the Accreditation Council for Graduate Medical Education. The current literature is mixed concerning the effect of Balint groups on communication skills and professionalism. Aim To map the content of the Balint discussion to the competencies and milestones put forward by the Accreditation Council for Graduate Medical Education. Methodology: A group who were both experts in Balint and members of the clinical competency committee of residency programs rated narratives that summarized Balint group discussions. Credentialed Leaders of the American Balint Society were invited via email to submit narratives (250 words) about Balint groups that they have led, or were leading, with residents. Results Only four narratives were submitted. Additional cases were recruited through literature review of published Balint discussion cases. A total of 25 cases were rated by the committee. There was agreement between three out of four raters on at least one core milestone in every case. The most frequent milestones were C1 (develops meaningful therapeutic relationships with patients and families), C2 (communicated effectively with patients, families, and public), Prof1 (completes a process of professionalization), and Prof3 (demonstrates humanism and cultural proficiency). Balint groups provided a learning opportunity for a subset of milestones in at least 36% of the cases. Conclusion This pilot research suggests that Balint groups and the discussions of complex and challenging cases provide learning opportunities for multiple family medicine milestones, mainly communication skills and professionalism. Further research is needed to refine the methodology and the rating system.
Endoscopic Management of Paranasal Sinus Mucoceles: Meta‐analysis of Visual Outcomes
Authors: Zukin Leonid M. , Hink Eric M. , Liao Sophie , Getz Anne E. , Kingdom Todd T. , Ramakrishnan Vijay R. 
Published: December 2017

ObjectiveParanasal sinus mucoceles are benign cystic lesions originating from sinus mucosa that can impinge on adjacent orbital structures, causing ophthalmic sequelae such as decreased visual acuity. Definitive treatment requires surgery. We present the first meta‐analysis quantifying the effect of preoperative visual function and time to surgery on postoperative visual acuity outcomes.Data SourcesPubMed, Ovid, Embase, Web of Science, and the Cochrane Library.MethodsTwo independent authors systematically reviewed articles describing outcomes after endoscopic sinus surgery for paranasal sinus mucoceles presenting with visual loss. Available data from case reports and series were combined to analyze the associations among preoperative visual acuity, time to surgery, and postoperative outcomes.ResultsEighty‐five studies were included that provided data on 207 patients. The average presenting visual acuity was 1.57 logMAR (logarithm of the minimum angle of resolution), and the average postoperative visual acuity was 0.21 logMAR, with visual improvement in 71.5% of cases. Preoperative visual acuity ≥1.52 logMAR correlated with postoperative improvement >1 logMAR (R = 0.4887, P <. 0001). A correlation was found between a time to surgery <6 days and postoperative improvement (R = 0.297, P <. 0001). Receiver operator curve analysis of these thresholds demonstrated a moderately accurate prognostic ability (area under the curve: 75.1 for preoperative visual acuity and 73.1 for time to surgery).ConclusionVisual loss resulting from paranasal sinus mucoceles is potentially reversible in most cases, even those presenting with poor vision. When possible, surgery should be performed promptly after diagnosis, but emergency surgery does not appear to be necessary for vision restoration.
Radiodensity of the Ostiomeatal Complex in Recurrent Acute Rhinosinusitis
Authors: Johnson Sean M. , Honeybrook Adam L. , Ramprasad Vaibhav H. , Abi Hachem Ralph , Jang David W. 
Published: December 2017

ObjectiveRecurrent acute rhinosinusitis (RARS) can be an elusive diagnosis due to the lack of clinical and radiographic findings in between acute episodes. This study aims to identify objective computed tomography (CT) characteristics in RARS.Study DesignCase series with chart review.SettingTertiary academic medical center.Subjects and MethodsPatients meeting diagnostic criteria for RARS were identified retrospectively from the senior author’s practice. Patients were diagnosed with RARS if they experienced 3 or more episodes of acute sinusitis within the past year with complete resolution of symptoms in between episodes. At least 1 episode was confirmed via CT or endoscopy. CT scans showing prior surgery were excluded. The scans for these patients were compared with those from a normal control group. Bone radiodensity of the entire ostiomeatal complex (OMC), including the ethmoid bulla, middle turbinate, and uncinate, was measured in Hounsfield units. Maximum radiodensity was noted for each side.ResultsA total of 16 patients meeting inclusion criteria for RARS were compared with 16 healthy patients. The mean Lund‐MacKay score was 1.6 in the RARS group and 1.3 in the control group. The maximum radiodensity of the OMC was significantly higher in the RARS group (556) compared with that of the control group (327) (P <. 0001).ConclusionPatients with RARS had significantly greater radiodensity of the OMC compared with those in the control group despite minimal differences in mucosal disease. Radiodensity measurement of the OMC using Hounsfield units may help to identify patients with this elusive diagnosis.
Is therapeutic hypothermia during neonatal extracorporeal membrane oxygenation associated with intracranial hemorrhage?
Authors: Cashen Katherine , Reeder Ron W. , Shanti Christina , Dalton Heidi J. , Dean J. Michael , Meert Kathleen L. 
Published: December 2017

Introduction: The use of therapeutic hypothermia during neonatal extracorporeal membrane oxygenation (ECMO) as a neurologic protective strategy has gained interest among clinicians despite limited data. Our objective is to describe the relationship between the use of therapeutic hypothermia during neonatal ECMO and complications, mortality and functional status among survivors. Methods: Secondary analysis of data collected by the Collaborative Pediatric Critical Care Research Network between December 2012 and September 2014. Data were collected prospectively from 267 neonates (<30 days) undergoing ECMO at eight clinical sites. Twenty neonates received therapeutic hypothermia. Results: Neonates receiving therapeutic hypothermia were more likely to have intracranial hemorrhage during the first seven days of ECMO than were non-hypothermic neonates (40.0% vs 15.8%, p=0.012). No differences were observed between groups for hospital mortality or functional status at hospital discharge among survivors. Variables independently associated with intracranial hemorrhage in the first seven days of ECMO included therapeutic hypothermia, gestational age at birth, age at initiation of ECMO, fibrinogen concentration and mode of ECMO. Conclusion: Therapeutic hypothermia during neonatal ECMO appears to be associated with intracranial hemorrhage.
Effectiveness of aquatic versus land physiotherapy in the treatment of peripheral neuropathies: a randomized controlled trial
Authors: Zivi Ilaria , Maffia Sara , Ferrari Vanessa , Zarucchi Alessio , Molatore Katia , Maestri Roberto , Frazzitta Giuseppe 
Published: December 2017

Objective: To compare the effects on gait and balance of aquatic physiotherapy versus on-land training, in the context of an inpatient rehabilitation treatment tailored for peripheral neuropathies. Design: Parallel-group, single-center, single-blind randomized controlled trial. Subjects and setting: Consecutive patients affected by peripheral neuropathy admitted in our Neuro-Rehabilitation Unit. Interventions: Patients received a four-week rehabilitation program composed by daily sessions of conventional physiotherapy and three sessions/week of specific treatment (aquatic vs. on-land). Main measures: Primary outcome measures were Berg Balance Scale and Dynamic Gait Index. Secondary outcome measures were Neuropathic Pain Scale, Overall Neuropathy Limitations Scale, Functional Independence Measure, Functional Ambulation Classification, Conley Scale and Medical Research Council Scale score for the strength of hip and ankle flexor and extensor muscles. For each scale, we calculated the difference between the scores at discharge and admission and compared it between the two groups. Results: Forty patients were enrolled: 21 in the water-based rehabilitation group and 19 in the land-based one. Patients were similar between groups. When comparing the groups, we found that “in-water” patients had a significant better improvement in the Dynamic Gait Index score (6.00 (4.00, 7.25) vs. 4.00 (1.25, 6.00), P = 0.0433). On the opposite, the “on-land” group showed a better improvement of the Functional Ambulation Classification score (1.0 (0.75, 1.0) vs. 1.0 (1.0, 2.0), P = 0.0386). Conclusion: Aquatic physiotherapy showed an effect comparable to the land-based rehabilitation on gait and balance dysfunctions of neuropathic patients.
How should we talk about palliative care, death and dying? A qualitative study exploring perspectives from caregivers of people with advanced cancer
Authors: Collins Anna , McLachlan Sue-Anne , Philip Jennifer 
Published: December 2017

Background: Health professionals commonly underestimate caregiver needs for information about palliative care, death and dying and may feel poorly prepared to discuss these issues. Few studies have sought caregiver perspectives of these communication practices. Aim: To explore caregiver perspectives on communication about death, dying and the introduction to palliative care, with a view towards a series of caregiver-informed recommendations for use in clinical practice. Design: Cross-sectional, prospective, exploratory qualitative design, involving narrative-style interviews and underpinned by an interpretative phenomenological framework. Setting/participants: Purposively sampled, English-speaking, adult caregivers of people with advanced cancer ( n = 25) recruited from cancer services at a tertiary metropolitan hospital in Melbourne, Australia. Results: Caregivers reported wanting routinely available written resources about palliative care, supplemented by conversations that are ideally staged overtime. Education about the tasks of palliative care should be separated from referral process, allowing time for gradual adjustment, and re-visiting discussion to enable patients and families to take some control in the process of transition. Once death is imminent, carers wanted health professionals to clarify how much they want to know about the dying process; provide spoken acknowledgement when death is close; include the words ‘death’ and ‘dying’; use direct language, avoiding euphemisms; and communicate about death with patient present. Conclusion: This study is among the first to directly address caregiver perspectives of communication about death, dying and the introduction to palliative care. The recommendations derived from caregiver perspectives build upon existing guidelines and offer health professionals some preliminary considerations around how to undertake these important communication tasks in future.