bluuebunny/crossref_metadata_2025_split huggingface dataset:
Validation of an Expanded Carrier Screen that Optimizes Sensitivity via Full-Exon Sequencing and Panel-wide Copy Number Variant Identification
Authors: Hogan Gregory J , Vysotskaia Valentina S , Beauchamp Kyle A , Seisenberger Stefanie , Grauman Peter V , Haas Kevin R , Hong Sun Hae , Jeon Diana , Kash Shera , Lai Henry H , Melroy Laura M , Theilmann Mark R , Chu Clement S , Iori Kevin , Maguire Jared R , Evans Eric A , Haque Imran S , Mar-Heyming Rebecca , Kang Hyunseok P , Muzzey Dale 
Published: May 2018

Abstract

BACKGROUND
By identifying pathogenic variants across hundreds of genes, expanded carrier screening (ECS) enables prospective parents to assess the risk of transmitting an autosomal recessive or X-linked condition. Detection of at-risk couples depends on the number of conditions tested, the prevalence of the respective diseases, and the screen's analytical sensitivity for identifying disease-causing variants. Disease-level analytical sensitivity is often &lt;100% in ECS tests because copy number variants (CNVs) are typically not interrogated because of their technical complexity.

METHODS
We present an analytical validation and preliminary clinical characterization of a 235-gene sequencing-based ECS with full coverage across coding regions, targeted assessment of pathogenic noncoding variants, panel-wide CNV calling, and specialized assays for technically challenging genes. Next-generation sequencing, customized bioinformatics, and expert manual call review were used to identify single-nucleotide variants, short insertions and deletions, and CNVs for all genes except FMR1 and those whose low disease incidence or high technical complexity precluded novel variant identification or interpretation.

RESULTS
Screening of 36859 patients' blood or saliva samples revealed the substantial impact on fetal disease-risk detection attributable to novel CNVs (9.19% of risk) and technically challenging conditions (20.2% of risk), such as congenital adrenal hyperplasia. Of the 7498 couples screened, 335 were identified as at risk for an affected pregnancy, underscoring the clinical importance of the test. Validation of our ECS demonstrated &gt;99% analytical sensitivity and &gt;99% analytical specificity.

CONCLUSIONS
Validated high-fidelity identification of different variant types—especially for diseases with complicated molecular genetics—maximizes at-risk couple detection.
Was the 2005 Doom film ‘Doomed from the beginning?’: First-person shooters, subjective cameras and intertextuality in the critical reception of the film adaptation Doom (2005)
Authors: Mizsei Ward Rachel 
Published: May 2018

Abstract
In 2005 the first-person-shooter computer game Doom was adapted into a film. As the defining characteristic of the game, a first-person-shooter sequence was included as a key section of the Doom film. This sequence is one of the most commented about aspects of the film. The majority of reviews mention it and have a definite opinion about it; although the consensus is divided. The first-person-shooter genre of computer game and this sequence in the Doom film can both be understood in relationship to the subjective camera shots used in cinema. However, I will demonstrate that the same technique had fundamentally different meanings to the audience because of the different relationships to narrative and character in films and video games.
Love in the Time of ACT UP: Reflections on AIDS Activism, Queer Family, and Desire
Authors: Stockdill Brett Cameron 
Published: May 2018

Abstract
In 1994, I was a member of ACT UP (AIDS Coalition to Unleash Power)/Chicago’ and a doctoral student in sociology. I also fell in love. In this article, I apply a queer sociological lens2 to examine the interplay among my activism, scholarship, queer family, and desire. In particular, I explore dynamics of AIDSphobia—and resistance to it—within this constellation of experiences. I draw from several sources. These include my lecture notes from an undergraduate sociology course; I wrote the first version of this lecture in 1996 and have updated it almost every year since. Other narrative elements derive from an unpublished narrative manuscript I wrote in 1998 and an unpublished spoken-word piece I wrote in 2000. I reviewed my own journal entries and personal correspondence from the years 1994 to 2000 to gain a better understanding of what I was experiencing, thinking, and feeling. I’ve presented parts of this article at academic conferences, each of which has provided feedback enhancing my queer sociological framing. Finally, I have integrated other scholarship on HIV/AIDS, intersectional inequalities, and collective action. I have drawn particular inspiration from the testifying/testimonio writings of black and Latina feminists.3
Neural Mechanisms Underlying Individual Differences in Control-Averse Behavior
Authors: Rudorf Sarah , Schmelz Katrin , Baumgartner Thomas , Wiest Roland , Fischbacher Urs , Knoch Daria 
Published: May 2018

When another person tries to control one's decisions, some people might comply, but many will feel the urge to act against that control. This control aversion can lead to suboptimal decisions and it affects social interactions in many societal domains. To date, however, it has been unclear what drives individual differences in control-averse behavior. Here, we address this issue by measuring brain activity with fMRI while healthy female and male human participants made choices that were either free or controlled by another person, with real consequences to both interaction partners. In addition, we assessed the participants' affects, social cognitions, and motivations via self-reports. Our results indicate that the social cognitions perceived distrust and lack of understanding for the other person play a key role in explaining control aversion at the behavioral level. At the neural level, we find that control-averse behavior can be explained by functional connectivity between the inferior parietal lobule and the dorsolateral prefrontal cortex, brain regions commonly associated with attention reorientation and cognitive control. Further analyses reveal that the individual strength of functional connectivity complements and partially mediates the self-reported social cognitions in explaining individual differences in control-averse behavior. These findings therefore provide valuable contributions to a more comprehensive model of control aversion.SIGNIFICANCE STATEMENTControl aversion is a prevalent phenomenon in our society. When someone tries to control their decisions, many people tend to act against the control. This can lead to suboptimal decisions such as noncompliance to medical treatments or disobeying the law. The degree to which individuals engage in control-averse behavior, however, varies significantly. Understanding the proximal mechanisms that underlie individual differences in control-averse behavior has potential policy implications, for example, when designing policies aimed at increasing compliance with vaccination recommendations, and is therefore a highly relevant research goal. Here, we identify a neural mechanism between parietal and prefrontal brain regions that can explain individual differences in control-averse behavior. This mechanism provides novel insights into control aversion beyond what is accessible through self-reports.
Time-Restricted Feeding Prevents Ablation of Diurnal Rhythms in Gastric Vagal Afferent Mechanosensitivity Observed in High-Fat Diet-Induced Obese Mice
Authors: Kentish Stephen J. , Hatzinikolas George , Li Hui , Frisby Claudine L. , Wittert Gary A. , Page Amanda J. 
Published: May 2018

Mechanosensitive gastric vagal afferents (GVAs) are involved in the regulation of food intake. GVAs exhibit diurnal rhythmicity in their response to food-related stimuli, allowing time of day-specific satiety signaling. This diurnal rhythmicity is ablated in high-fat-diet (HFD)-induced obesity. Time-restricted feeding (TRF) has a strong influence on peripheral clocks. This study aimed to determine whether diurnal patterns in GVA mechanosensitivity are entrained by TRF. Eight-week-old male C57BL/6 mice (N= 256) were fed a standard laboratory diet (SLD) or HFD for 12 weeks. After 4 weeks of diet acclimatization, the mice were fed eitherad libitumor only during the light phase [Zeitgeber time (ZT) 0–12] or dark phase (ZT12–24) for 8 weeks. A subgroup of mice from all conditions (n= 8/condition) were placed in metabolic cages. After 12 weeks,ex vivoGVA recordings were taken at 3 h intervals starting at ZT0. HFD mice gained more weight than SLD mice. TRF did not affect weight gain in the SLD mice, but decreased weight gain in the HFD mice regardless of the TRF period. In SLD mice, diurnal rhythms in food intake were inversely associated with diurnal rhythmicity of GVA mechanosensitivity. These diurnal rhythms were entrained by the timing of food intake. In HFD mice, diurnal rhythms in food intake and diurnal rhythmicity of GVA mechanosensitivity were dampened. Loss of diurnal rhythmicity in HFD mice was abrogated by TRF. In conclusion, diurnal rhythmicity in GVA responses to food-related stimuli can be entrained by food intake. TRF prevents the loss of diurnal rhythmicity that occurs in HFD-induced obesity.SIGNIFICANCE STATEMENTDiurnal control of food intake is vital for maintaining metabolic health. Diet-induced obesity is associated with strong diurnal changes in food intake. Vagal afferents are involved in regulation of feeding behavior, particularly meal size, and exhibit diurnal fluctuations in mechanosensitivity. These diurnal fluctuations in vagal afferent mechanosensitivity are lost in diet-induced obesity. This study provides evidence that time-restricted feeding entrains diurnal rhythmicity in vagal afferent mechanosensitivity in lean and high-fat-diet (HFD)-induced obese mice and, more importantly, prevents the loss of rhythmicity in HFD-induced obesity. These data have important implications for the development of strategies to treat obesity.
Squamous Cell Carcinoma of the Lower Lip Arising in Discoid Lupus Lesion - A Case Report
Authors: Sbai Achraf Amine , Eabdenbitsen Adil , Elayoubi Fahd , Ghailan Mohamed Rachid 
Published: May 2018

Introduction: Rare examples from the literature report a possible degeneration of mucosal lesions of L.E.C. We report a case of squamous cell carcinoma grafted on a lesion of the lower lip in a patient followed for L.E.C. at the ENT and Maxillo-facial department of Mohamed VI University Hospital of Oujda.Case report: A 47-year-old man, with a notion of photosensitivity, presents atrophic erythematous-violet plaques in the photo-exposed zones evolving for 20 years, evoking chronic discoid lupus cutaneous without any clinical, biological or radiological sign of systematization. The patient had a painful lower ulcer-budding process that had been evolving for 2 years, with suspected bilateral cervical lymphadenopathy. The biopsy revealed a well-differentiated infiltrating squamous cell carcinoma. Surgical excision oncology is then performed with a labial plasty and an obviously bilateral lymph node. Conclusion: The risk of degeneration of skin lesions of lupus discoid is minimal and rare, although monitoring of lupus scars remains essential, especially in the context where exposure to ultraviolet radiation is added as a predisposing factor for possible malignant transformation, surgical treatment is required at the appearance of suspicious lesions confirmed histologically.
Colgajo de recto anterior del abdomen para el tratamiento de los defectos de cobertura lumbosacros. [Rectus abdominis flap for the treatment of lumbosacral coverage defects.]
Authors: De Cicco Franco L. , Abrego Mariano O. , Gallucci Gerardo L. , De Carli Pablo , Boretto Jorge G. 
Published: May 2018

Introduction: Treatment of soft tissue lumbosacral defects is based on dead space management and defect coverage. The aim of this study is to describe the surgical technique, results and complications of patients who underwent rectus abdominis flap for lumbosacral defects coverage.Methods: A six-year retrospective review was performed. Demographic characteristics are analyzed. Surgical technique and intra-operative complications are described. Postoperative variables, such as donor site complications, recipient site complications, and flap survival were also reported. Results: Five patients met the inclusion criteria (average age, 50 years). Four patients presented sacral tumor diagnosis and one patient had lumbosacral osteomyelitis. Mean follow-up was 20 months. Flap average size was 8 x 13 cm. Intraoperative complications were one pedicle injury (microsurgical repair) and the death of a patient. Regarding postoperative complications, one wound dehiscence was reported. None of the flaps suffered vascular complications and all remained vital throughout follow-up.Conclusion: Rectus abdominis flap should be considered a valid option in the management of large soft tissue lumbosacral defects. This flap provides sufficient skin volume and muscular tissue. Surgical technique is relatively simple with no need for microsurgical procedure.
Resolución del caso.
Authors: Ghisi Juan Pablo , Olmedo Plata Carlos 
Published: May 2018

Se presenta el caso de un hombre de 78 años de edad que consulta por disfagia, especialmente para sólidos, y progresivos cambios en el tono de voz. Padece hipertensión arterial y diabetes tipo II en tratamiento con IECA y metformina como únicos antecedente patológicos de importancia. Se presentan imagenes de una patologia ,Hiperostosis esquelética idiopática difusa (DISH) poco frecuente y generalmente de hallazgo radiologico.
Trends in Cannabis and Cigarette Use Among Parents With Children at Home: 2002 to 2015
Authors: Goodwin Renee D. , Cheslack-Postava Keely , Santoscoy Samantha , Bakoyiannis Nina , Hasin Deborah S. , Collins Bradley N. , Lepore Stephen J. , Wall Melanie M. 
Published: May 2018

BACKGROUND:
In this study, we investigated trends in cannabis use among parents with children at home in the United States and estimated changes in prevalence of any cannabis use and daily cannabis use among parents who identified as cigarette smokers and nonsmokers with children in the home from 2002 to 2015.

METHODS:
The National Survey on Drug Use and Health is an annual, nationally representative, cross-sectional study conducted in the United States. Using logistic regression models, associations between cigarette smoking and any past-month and daily past-month cannabis use among parents with children in the home from 2002 to 2015 were estimated. Moderation of these associations by demographics and trends over time was examined.

RESULTS:
Past-month cannabis use among parents with children in the home increased from 4.9% in 2002 to 6.8% in 2015, whereas cigarette smoking declined from 27.6% to 20.2%. Cannabis use increased from 11.0% in 2002 to 17.4% in 2015 among cigarette-smoking parents and from 2.4% to 4.0% among non–cigarette-smoking parents (P value for trends &lt;.0001). Cannabis use was nearly 4 times more common among cigarette smokers versus nonsmokers (17.4% vs 4.0%; adjusted odds ratio = 3.88 [3.16–4.75]), as was daily cannabis use (4.6% vs 0.8%; adjusted odds ratio = 3.70 [2.46–5.55]). The overall percentage of parents who used either cigarettes and/or cannabis decreased from 29.7% in 2002 to 23.5% in 2015.

CONCLUSIONS:
Efforts to decrease secondhand smoke exposure via cigarette smoking cessation may be complicated by increases in cannabis use. Educating parents about secondhand cannabis smoke exposure should be integrated into public education programs on secondhand tobacco smoke exposure.
Prevalence of signs and symptons for Temporomandibular Disfunctions in boxers
Authors: Santos Duplat Yuri , Motta Nunes Achilles 
Published: May 2018

INTRODUCTION: The temporomandibular disfunction (TMD) has multifactorial origin, being the most relevant: psychosocial factors, pathophysiological and traumatic. The Boxing is considered one traumatic factor for being a contact sport that imposes large expenditure of kinetic energy on sports sign, which could affect the face and, consequently, the TMJ, with 10% of the athletes could suffer a facial injury, representing a possible predisposition to TMD. OBJECTIVES: Estimate the prevalence of signs and symptons for TMD in boxers, check if the use of mouthguard chengs the intensity of signs and symptons of TMD, check the variation difference of the signs and symptons in amateurs and professional boxers. METHODS: cross-sectional study, accomplished in a Box gym, in the city of Salvador, Bahia, Brasil in April/2017. Boxers were evaluated by the Anamnesis Index of Fonseca. The variables were analyzed through the test t-Student and the level of meaningfulness established were from 5%. Followed the standards of the Resolution 466/12, and obteined approval from the Research Ethics Committee of the Universidade Católica do Salvador (CAAE 64281616.8.0000.5628). RESULTS: 51% from the athletes do not have TMD, 43,1% have light TMD, 5,9% have moderate TMD, none participant presented several TMD. Athletes that participate of championships presented more prevalence of simtomatology for TMD than the ones that do not participated (p<0,05). CONCLUSION: There was association between participation in championships and presence of TMD, demonstrating that athletes of competitions gift predisposition to develop disfunction.
Protocolo fisioterapêutico aplicado no pós-operatório imediato para recuperação acelerada de pacientes submetidos à procedimentos cirúrgicos torácicos no Hospital Santa Marcelina – Itaquera (PROSM): estudo clínico randomizado
Authors: Gomes Andréa Oliver , Ramos Wendell Rodrigo , Dalfior Cristiane dos Anjos , Cavalcante Maria Gabriela , De Abreu Igor , Abrão Fernando Conrado 
Published: May 2018

INTRODUÇÃO: A cirurgia torácica pode causar uma série de complicações pulmonares após o processo cirúrgico. O momento e a circunstância ideais para sedestação fora do leito e suas implicações clínicas, após cirurgias no tórax, ainda necessitam de padronização. Assim, faz-se necessário um tratamento de mobilização precoce adequado visando minimizar as complicações no período pós-operatório. OBJETIVOS: Objetivamos avaliar o efeito do atendimento fisioterapêutico no pós-operatório imediato de pacientes submetidos à cirurgia torácica. MATERIAIS E MÉTODOS: Este será um ensaio clínico randomizado, no qual um grupo de pacientes submetidos às cirurgias de ressecções pulmonares eletivas (segmentectomias, lobectomias ou pneumonectomias) com idade superior a dezoito anos receberão atendimento fisioterapêutico através do PROSM. Serão excluídos os pacientes incapazes de assinar o termo de consentimento livre esclarecido, com performance status comprometido (ECOG superior à 2), com peso corporal inferior à 60 Kg ou superior à 120 Kg, com alergia a qualquer uma das drogas utilizadas na anestesia, portadores de disfunção renal, disfunção hepática (Child B e C) e Insuficiência Cardíaca (classe Funcional III e IV). O instrumento de classificação do grau da dor por meio da Escala Visual Analógica (EVA) e instrumento de classificação da independência funcional por meio da Escala MIF (medida de independência funcional) serão aplicados antes do início e após o término de cada sessão de fisioterapia. Também será analisado o número de sessões de cada paciente e o tempo de internação. Para análise estatística será utilizado o programa SPSS Statistics e o teste de Shapiro-Wilk será usado para identificar a normalidade dos dados coletados. Espera-se um menor tempo de internação e melhor independência funcional na alta hospitalar nos pacientes submetidos ao PROSM.
Implementation of Multicultural Context on Learning Writing Poetry in Senior High School
Authors: Asriningsari Ambarini , Nayla Azzah 
Published: May 2018

Indonesian society is a pluralistic society, so it needs understanding of multicultural values ​​in every interaction through education. Cultural diversity must be understood and accepted as a uniqueness that is able to bring Indonesian society in the heterogeneous life of society. Schools play a key role in how an educational institution is able to transmit multicultural values. This study raises the problem (1) the application of multicultural context in the study of writing poetry in high school; and (2) student learning outcomes on the application of multicultural contexts on learning to write poetry in high school. This research design using qualitative descriptive approach through step 1: Preliminary observation, step 2: developing learning tools, compiling materials, and evaluation guides, step 3: applying the multicultural context to the learning of writing poetry to the class which is the activity enforcement in a classroom learning, 4) step 4: Formative evaluation and description of research results. The application of multicultural context in learning to write poetry is done through preliminary activities, core, follow-up, and reflection. Student attitudes after applied multicultural contexts begin to enthusiastically pay attention to teachers and mostly seem to seriously engage in discussion activities with group members. The skills of writing poetry on the aspect of the accuracy of word selection or diction, topics, and the message, have met the good category. In the skill students are able to choose the right word or diction, determine the theme, and understand the cultural differences that exist around them to be positively responded. Students are also quite able to understand the mandate implied in the poem to apply to everyday life.
Legalisasi Islamic Law with analytic philosophy approach Model of language analysis
Authors: Zuhri Saifudin 
Published: May 2018

Legalization of Shari'a is related to the establishment of a religious society. Shari'a is derived because there are causes that expect it to be derived and its application is dependent on the existence of the continuous changes on the society's reality and the events that are always new event. Therefore, the Shari'a takes something from the institutions and cultures of society to serve as law.
Law makers are not limited to the text set by the Qur'an, but they include the results of ijtihad with qiyas and so on. On this basis, scholars need the reorientation of the theory of law limitation: There is a law that is set by the Qur'an which is limited to a specific time only, and there is a law that is set by the Qur'an which is applied generally based on the existing context.