bluuebunny/crossref_metadata_2025_split huggingface dataset:
Common Variant Near
HEY2
Has a Protective Effect on Ventricular Fibrillation Occurrence in Brugada Syndrome by Regulating the Repolarization Current
Authors: Nakano Yukiko , Ochi Hidenori , Onohara Yuko , Toshishige Masaaki , Tokuyama Takehito , Matsumura Hiroya , Kawazoe Hiroshi , Tomomori Shunsuke , Sairaku Akinori , Watanabe Yoshikazu , Ikenaga Hiroki , Motoda Chikaaki , Suenari Kazuyoshi , Hayashida Yasufumi , Miki Daiki , Oda Nozomu , Kishimoto Shinji , Oda Noboru , Yoshida Yukihiko , Tashiro Satoshi , Chayama Kazuaki , Kihara Yasuki 
Published: January 2016

Background—
Risk stratification of Brugada syndrome (BrS) remains controversial and the majority of patients with BrS have no genetic explanation. We investigated relationships between genotypes of 3 single-nucleotide polymorphisms reported in a recent genome-wide association study and BrS phenotypes.

Methods and Results—

SCN10A
(rs10428132),
SCN5A
(rs11708996), and downstream from
HEY2
(rs9388451) single-nucleotide polymorphisms were genotyped and compared between 95 Japanese patients with BrS and 1978 controls. Relationships between the single-nucleotide polymorphisms and clinical characteristics, 12-lead ECG findings, signal-averaged ECG findings, and electrophysiological parameters were also examined in patients with BrS. Both rs10428132 and rs9388451 were significantly associated with BrS (
P
=2.7×10
−14
; odds ratio, 3.0;
P
=9.2×10
−4
; odds ratio, 1.7, respectively). Interestingly, the
HEY2
risk allele C was less frequent in BrS patients with ventricular fibrillation than in those without (59% versus 74%;
P
=4.1×10
−2
; odds ratio, 0.5). A significant linear correlation was found between
HEY2
genotypes and QTc interval (CC: 422±27 ms; CT: 408±21 ms; and TT: 381±27 ms;
P
= 4.0×10
−4
). The
HEY2 mRNA
expression level in the right ventricular specimens from patients with BrS (n=20) was significantly lower in patients with CC genotype than the other genotypes (
P
=0.04). Additionally, during 63±28 months follow-up periods after implantable cardioverter defibrillator implantation (n=90), Kaplan–Meier event-free survival curves revealed that the cumulative rate of ventricular fibrillation events was significantly lower in cases with
HEY2
CC genotype (
P
=0.04).

Conclusions—

Our findings suggest that
HEY2
CC genotype may be a favorable prognostic marker for BrS, protectively acting to prevent ventricular fibrillation presumably by regulating the repolarization current.
XXI a. pradžios lietuvių tarmės: geolingvistinis ir sociolingvistinis tyrimas. Žemėlapiai ir jų komentarai, red. D. Mikulėnienė, V. Meiliūnaitė, Vilnius: Lietuvių kalbos institutas, Leidykla Briedis, 2014, 459 ss.
Authors: Jankowiak Mirosław 
Published: January 2016

ReviewThis text is a review of the Lithuanian language monumental work entitled XXI a. pradžios lietuvių tarmės: geolingvistinis ir sociolingvistinis tyrimas. Žemėlapiai ir jų komentarai published in Vilnius in 2014. It is the result of long-lasting studies by famous linguists conducting research on the Lithuanian dialects, on the Polish language of the Northern Borderlands and on the Belarusian and Russian languages in Lithuania. The publication presents some theoretical aspects of contemporary dialectological research in Lithuania, geolinguistic research in Lithuania, geolinguistic situation of the Lithuanian dialects in the 21st century and the optimisation of the field study points, description of other languages and dialects spoken in Lithuania (the Polish and Russian languages, the Belarusian dialects) and the dynamics of dialectal changes. The publication under review is of paramount importance for the Lithuanian dialectology – not only enormous and valuable dialectal material was collected but also its professional linguistic analysis was carried out. RecenzjaTekst stanowi recenzję monumentalnej pracy litewskojęzycznej XXI a. pradžios lietuvių tarmės: geolingvistinis ir sociolingvistinis tyrimas. Žemėlapiai ir jų komentarai, która ukazała się w Wilnie w 2014 r. Jest ona efektem wieloletniej pracy znanych lingwistów badających gwary litewskie, polszczyznę północnokresową oraz języki białoruski i rosyjski na Litwie. W publikacji ukazano aspekty teoretyczne współczesnych badań dialektologicznych na Litwie, litewskie badania geolingwistyczne, sytuację geolingwistyczną litewskich dialektów w XXI w. i optymalizację punktów terenowych, a dalej opis innych języków i gwar występujących na Litwie (polszczyzna, rosyjski, gwary białoruskie) oraz dynamizm zmian dialektalnych. Recenzowana publikacja jest niezmiernie ważną pozycją dla litewskiej dialektologii. Zgromadzono w niej nie tylko ogromny i wartościowy materiał dialektalny, lecz przeprowadzono też jego profesjonalną analizę.
Uwagi teoretyczne na temat zmiany kodu w monologach starowierców mieszkających w Polsce
Authors: Głuszkowski Michał 
Published: January 2016

Theoretical remarks on code-switching in monologues of the Old Believers living in PolandThe Old Believers living in Poland are a bilingual community. Although they managed to maintain their religion, culture and language through ages, their language situation as well as the structure of the dialect have been undergoing severe changes. In spite of Polish loan translations and borrowings present in the Russian dialect, the Old Believers tend to switch the code between sentences and inside of them. The article is an approach to find an appropriate theoretical approach to characterize the phenomenon of code switching and code mixing in monologues, i.e. these cases of switching which are caused neither by the change of interlocutor nor by the change of communicative situation. Uwagi teoretyczne na temat zmiany kodu w monologach starowierców mieszkających w Polsce Mieszkający w Polsce staroobrzędowcy są społecznością dwujęzyczną. Choć na przestrzeni kilku stuleci udało im się zachować swoją religię, kulturę i język, ich sytuacja językowa oraz struktura dialektu wciąż podlegają poważnym zmianom. Oprócz zapożyczeń i kalk z języka polskiego przejawem tych zmian jest tendencja do przełączania kodów pomiędzy zdaniami i wewnątrz nich. Artykuł stanowi próbę znalezienia podejścia teoretycznego, które byłoby odpowiednie do opisu zjawisk przełączania i mieszania kodów w monologach, czyli tych przypadków zmiany języka wypowiedzi, które nie są spowodowane zmianą rozmówcy ani sytuacji komunikacyjnej.
Wszystkie gwary są piękne
Authors: Rutkowska Krystyna 
Published: January 2016

All dialects are beautifulThe text presents the publication Visos tarmės gražiausios… Tarmių medžiagos rinkimo instrukcija [Eng. All dialects are beautiful… Dialectal material collection instruction] created by Lithuanian dialectologists. It aims to activate dialectical research data collection in various regions of Lithuania. The publication provides brief, popular and scholarly articles about the history of the Lithuanian dialectical research, as well as practical guidelines for researchers. The cooperation initiative between reserachers and dialect users is underlined. Wszystkie gwary są piękneTekst przedstawia publikację Visos tarmės gražiausios… Tarmių medžiagos rinkimo instrukcija [pol. Wszystkie gwary są piękne… Instrukcja gromadzenia materiałów gwarowych], opracowaną przez dialektologów litewskich. Ma ona na celu aktywizację pracy nad gromadzeniem danych gwaroznawczych w różnych regionach Litwy. Publikacja zawiera krótkie artykuły o charakterze popularnonaukowym, dotyczące historii gwaroznawstwa na Litwie oraz praktyczne wskazówki dla badaczy. Godna uwagi jest sama inicjatywa współpracy naukowców z użytkownikami gwar.
Feliks Czyżewski, Antroponimia pogranicza polsko‑wschodniosłowiańskiego w świetle inskrypcji nagrobnych, część 1: Słownik nazwisk, Lublin: Polihymnia, 2013, LXX + 150 ss.
Authors: Ostrówka Małgorzata Maria 
Published: January 2016

ReviewThe work presents the book Antroponimia pogranicza polsko-wschodniosłowiańskiego w świetle inskrypcji nagrobnych (Eng. Anthroponymy of the Polish-East Slavonic borderland in light of tombstone inscriptions) by Feliks Czyżewski. The author, a well-known researcher of the Polish-Ukrainian borderland, collected, classified, elaborated and presented in the form of a dictionary about three thousand anthroponyms from working and closed cemeteries of Eastern Lublin region. It was preceded by a historical description of the region. The author also presented the current and historical state of the cemeteries (Orthodox, Catholic and mixed). Valuable parts of the book are color photographs illustrating various types of inscriptions, as well as maps presenting most important phonetic phenomena in Polish and the Ukrainian dialects, maps with location of the cemeteries where the inscriptions were collected, and bibliography concerning tombstone inscriptions in the Polish-East-Slavonic borderland. Recenzja Recenzja prezentuje książkę Feliksa Czyżewskiego Antroponimia pogranicza polsko-wschodniosłowiańskiego w świetle inskrypcji nagrobnych. Autor, znany badacz pogranicza polsko-ukraińskiego, zebrał, sklasyfikował i opracował oraz przedstawił w formie słownika ok. 3 tysięcy antroponimów z czynnych i zamkniętych cmentarzy Lubelszczyzny wschodniej. Całość poprzedził opisem historycznym regionu, przedstawił stan współczesny i historyczny cmentarzy wyznaniowych (prawosławnych, katolickich i mieszanych). Cennymi fragmentami książki są: kolorowe fotografie ilustrujące różne rodzaje inskrypcji, mapy przedstawiające ważniejsze zjawiska fonetyczne w gwarach polskich i ukraińskich, mapy z rozmieszczeniem miejscowości i cmentarzy, na których zebrano napisy, oraz bibliografia dotycząca inskrypcji nagrobnych na pograniczu polsko-wschodniosłowiańskim.
Influence of EMS-physician presence on survival after out-of-hospital cardiopulmonary resuscitation: systematic review and meta-analysis
Authors: Böttiger Bernd W. , Bernhard Michael , Knapp Jürgen , Nagele Peter 
Published: January 2016

Abstract
Background
Evidence suggests that EMS-physician-guided cardiopulmonary resuscitation (CPR) in out-of-hospital cardiac arrest (OOHCA) may be associated with improved outcomes, yet randomized controlled trials are not available. The goal of this meta-analysis was to determine the association between EMS-physician- versus paramedic-guided CPR and survival after OOHCA.

Methods and Results
Studies that compared EMS-physician- versus paramedic-guided CPR in OOHCA published until June 2014 were systematically searched in MEDLINE, EMBASE and Cochrane databases. All studies were required to contain survival data. Data on study characteristics, methods, and as well as survival outcomes were extracted. A random-effects model was used for the meta-analysis due to a high degree of heterogeneity among the studies (I
2
= 44 %). Return of spontaneous circulation [ROSC], survival to hospital admission, and survival to hospital discharge were the outcome measures.
Out of 3,385 potentially eligible studies, 14 met the inclusion criteria. In the pooled analysis (n = 126,829), EMS-physician-guided CPR was associated with significantly improved outcomes compared to paramedic-guided CPR: ROSC 36.2 % (95 % confidence interval [CI] 31.0 – 41.7 %) vs. 23.4 % (95 % CI 18.5 – 29.2 %) (pooled odds ratio [OR] 1.89, 95 % CI 1.36 – 2.63, p < 0.001); survival to hospital admission 30.1 % (95 % CI 24.2 – 36.7 %) vs. 19.2 % (95 % CI 12.7 – 28.1 %) (pooled OR 1.78, 95 % CI 0.97 – 3.28, p = 0.06); and survival to discharge 15.1 % (95 % CI 14.6 – 15.7 %) vs. 8.4 % (95 % CI 8.2 – 8.5 %) (pooled OR 2.03, 95 % CI 1.48 – 2.79, p < 0.001).

Conclusions
This systematic review suggests that EMS-physician-guided CPR in out-of-hospital cardiac arrest is associated with improved survival outcomes.
Bone grafts and their substitutes
Authors: Fillingham Y. , Jacobs J. 
Published: January 2016

The continual cycle of bone formation and resorption is carried out by osteoblasts, osteocytes, and osteoclasts under the direction of the bone-signaling pathway. In certain situations the host cycle of bone repair is insufficient and requires the assistance of bone grafts and their substitutes. The fundamental properties of a bone graft are osteoconduction, osteoinduction, osteogenesis, and structural support. Options for bone grafting include autogenous and allograft bone and the various isolated or combined substitutes of calcium sulphate, calcium phosphate, tricalcium phosphate, and coralline hydroxyapatite. Not all bone grafts will have the same properties. As a result, understanding the requirements of the clinical situation and specific properties of the various types of bone grafts is necessary to identify the ideal graft. We present a review of the bone repair process and properties of bone grafts and their substitutes to help guide the clinician in the decision making process. Cite this article: Bone Joint J 2016;98-B(1 Suppl A):6–9.
Morphometric analysis of the distal femur in total knee arthroplasty and native knees
Authors: Bonnin M. P. , Saffarini M. , Bossard N. , Dantony E. , Victor J. 
Published: January 2016

Aims Analysis of the morphology of the distal femur, and by extension of the femoral components in total knee arthroplasty (TKA), has largely been related to the aspect ratio, which represents the width of the femur. Little is known about variations in trapezoidicity (i.e. whether the femur is more rectangular or more trapezoidal). This study aimed to quantify additional morphological characteristics of the distal femur and identify anatomical features associated with higher risks of over- or under-sizing of components in TKA. Methods We analysed the shape of 114 arthritic knees at the time of primary TKA using the pre-operative CT scans. The aspect ratio and trapezoidicity ratio were quantified, and the post-operative prosthetic overhang was calculated. We compared the morphological characteristics with those of 12 TKA models. Results There was significant variation in both the aspect ratio and trapezoidicity ratio between individuals. Femoral trapezoidicity was mostly due to an inward curve of the medial cortex. Overhang was correlated with the aspect ratio (with a greater chance of overhang in narrow femurs), trapezoidicity ratio (with a greater chance in trapezoidal femurs), and the tibio-femoral angle (with a greater chance in valgus knees). Discussion This study shows that rectangular/trapezoidal variability of the distal femur cannot be ignored. Most of the femoral components which were tested appeared to be excessively rectangular when compared with the bony contours of the distal femur. These findings suggest that the design of TKA should be more concerned with matching the trapezoidal/rectangular shape of the native femur. Take home message: The distal femur is considerably more trapezoidal than most femoral components, and therefore, care must be taken to avoid anterior prosthetic overhang in TKA Cite this article: Bone Joint J 2016;98-B:49–57.
Arthroscopic treatment of femoroacetabular impingement following slipped capital femoral epiphysis
Authors: Basheer S. Z. , Cooper A. P. , Maheshwari R. , Balakumar B. , Madan S. 
Published: January 2016

Slipped capital femoral epiphysis (SCFE) may lead to symptomatic femoroacetabular impingement (FAI). We report our experience of arthroscopic treatment, including osteochondroplasty, for the sequelae of SCFE.Data were prospectively collected on patients undergoing arthroscopy of the hip for the sequelae of SCFE between March 2007 and February 2013, including demographic data, radiological assessment of the deformity and other factors that may influence outcome, such as the presence of established avascular necrosis. Patients completed the modified Harris hip score (mHHS) and the non-arthritic hip score (NAHS) before and after surgery.In total, 18 patients with a mean age of 19 years (13 to 42), were included in the study. All patients presented with pain in the hip and mechanical symptoms, and had evidence of FAI (cam or mixed impingement) on plain radiographs.The patients underwent arthroscopic osteoplasty of the femoral neck. The mean follow-up was 29 months (23 to 56).The mean mHHS and NAHS scores improved from 56.2 (27.5 to 100.1) and 52.1 (12.5 to 97.5) pre-operatively to 75.1 (33.8 to 96.8, p = 0.01) and 73.6 (18.8 to 100, p = 0.02) at final follow-up, respectively. Linear regression analysis demonstrated a significant association between poorer outcome scores and increased time to surgery following SCFE (p < 0.05 for all parameters except baseline MHHS).Symptomatic FAI following (SCFE) may be addressed using arthroscopic techniques, and should be treated promptly to minimise progressive functional impairment and chondrolabral degeneration.Take home message: Arthroscopy of the hip can be used to treat femoroacetabular impingement successfully following SCFE. However, this should be performed promptly after presentation in order to prevent irreversible progression and poorer clinical outcomes.Cite this article: Bone Joint J 2016;98-B:21–7.
The jumbo acetabular component for acetabular revision
Authors: Lachiewicz P. F. , Watters T. S. 
Published: January 2016

The ‘jumbo’ acetabular component is now commonly used in acetabular revision surgery where there is extensive bone loss. It offers high surface contact, permits weight bearing over a large area of the pelvis, the need for bone grafting is reduced and it is usually possible to restore centre of rotation of the hip. Disadvantages of its use include a technique in which bone structure may not be restored, a risk of excessive posterior bone loss during reaming, an obligation to employ screw fixation, limited bone ingrowth with late failure and high hip centre, leading to increased risk of dislocation. Contraindications include unaddressed pelvic dissociation, inability to implant the component with a rim fit, and an inability to achieve screw fixation. Use in acetabulae with < 50% bone stock has also been questioned. Published results have been encouraging in the first decade, with late failures predominantly because of polyethylene wear and aseptic loosening. Dislocation is the most common complication of jumbo acetabular revisions, with an incidence of approximately 10%, and often mandates revision. Based on published results, a hemispherical component with an enhanced porous coating, highly cross-linked polyethylene, and a large femoral head appears to represent the optimum tribology for jumbo acetabular revisions. Cite this article: Bone Joint J 2016;98-B(1 Suppl A):64–7.
The dual mobility cup
Authors: Ko L. Matsen , Hozack W. J. 
Published: January 2016

Dual mobility cups have two points of articulation, one between the shell and the polyethylene (external bearing) and one between the polyethylene and the femoral head (internal bearing). Movement occurs at the inner bearing; the outer bearing only moves at extremes of movement.Dislocation after total hip arthroplasty (THA) is a cause of much morbidity and its treatment has significant cost implications. Dual mobility cups provide an increased range of movement and a may reduce the risk of dislocation.This paper reviews the use of these cups in THA, particularly where stability is an issue. Dual mobility cups may be of benefit in primary THA in patients at a high risk of dislocation, such as those who are older with increased comorbidities and a higher American Association of Anesthesiology grade and those with a neuromuscular disease. They may be used at revision surgery where the risk of dislocation is high, such as in patients with many prior dislocations, or those with abductor deficiency. They may also be used in THA for displaced fractures of the femoral neck, which has a notoriously high rate of dislocation.Cite this article: Bone Joint J 2016;98-B(1 Suppl A):60–3.
The management of bone loss in revision total knee arthroplasty
Authors: Sculco P. K. , Abdel M. P. , Hanssen A. D. , Lewallen D. G. 
Published: January 2016

The treatment of bone loss in revision total knee arthroplasty has evolved over the past decade. While the management of small to moderate sized defects has demonstrated good results with a variety of traditional techniques (cement and screws, small metal augments, impaction bone grafting or modular stems), the treatment of severe defects continues to be problematic. The use of a structural allograft has declined in recent years due to an increased failure rate with long-term follow-up and with the introduction of highly porous metal augments that emphasise biological metaphyseal fixation. Recently published mid-term results on the use of tantalum cones in patients with severe bone loss has reaffirmed the success of this treatment strategy. Cite this article: Bone Joint J 2016;98-B(1 Suppl A):120–4.
Instability in total knee arthroplasty
Authors: Petrie J. R. , Haidukewych G. J. 
Published: January 2016

Instability is a common indication for early revision after both primary and revision total knee arthroplasty (TKA), accounting for up to 20% in the literature. The number of TKAs performed annually continues to climb exponentially, thus having an effective algorithm for treatment is essential. This relies on a thorough pre- and intra-operative assessment of the patient. The underlying cause of the instability must be identified initially and subsequently, the surgeon must be able to balance the flexion and extension gaps and be comfortable using a variety of constrained implants.This review describes the assessment of the unstable TKA, and the authors’ preferred form of treatment for these difficult cases where the source of instability is often multifactorial.Cite this article: Bone Joint J 2016;98-B(1 Suppl A):116–19.
Neutral mechanical alignment
Authors: Allen M. M. , Pagnano M. W. 
Published: January 2016

The cause of dissatisfaction following total knee arthroplasty (TKA) remains elusive. Much attention has been focused on static mechanical alignment as a basis for surgical success and optimising outcomes. More recently, research on both normal and osteoarthritic knees, as well as kinematically aligned TKAs, has suggested that other specific and dynamic factors may be more important than a generic target of 0 ± 3º of a neutral axis. Consideration of these other variables is necessary to understand ideal targets and move beyond generic results. Cite this article: Bone Joint J 2016;98-B(1 Suppl A):81–3.
Are all metal-on-metal hip revision operations contributing to the National Joint Registry implant survival curves?
Authors: Sabah S. A. , Henckel J. , Koutsouris S. , Rajani R. , Hothi H. , Skinner J. A. , Hart A. J. 
Published: January 2016

Aims The National Joint Registry for England, Wales and Northern Ireland (NJR) has extended its scope to report on hospital, surgeon and implant performance. Data linkage of the NJR to the London Implant Retrieval Centre (LIRC) has previously evaluated data quality for hip primary procedures, but did not assess revision records. Methods We analysed metal-on-metal hip revision procedures performed between 2003 and 2013. A total of 69 929 revision procedures from the NJR and 929 revised pairs of components from the LIRC were included. Results We were able to link 716 (77.1%) revision procedures on the NJR to the LIRC. This meant that 213 (22.9%) revision procedures at the LIRC could not be identified on the NJR. We found that 349 (37.6%) explants at the LIRC completed the full linkage process to both NJR primary and revision databases. Data completion was excellent (> 99.9%) for revision procedures reported to the NJR. Discussion This study has shown that only approximately one third of retrieved components at the LIRC, contributed to survival curves on the NJR. We recommend prospective registry-retrieval linkage as a tool to feedback missing and erroneous data to the NJR and improve data quality. Take home message: Prospective Registry – retrieval linkage is a simple tool to evaluate and improve data quality on the NJR. Cite this article: Bone Joint J 2016;98-B:33–9.