bluuebunny/crossref_metadata_2025 huggingface dataset:
5. Representation
Authors: Bodenhamer David J.
Published: April 2018

More than most constitutional issues, questions of representation and suffrage have exposed the fault lines of class, race, and gender in American society. Popular sovereignty was the touchstone of republican liberty, but only grudgingly did rulers admit the ruled into their circle. The world-view of the framers had no room for women, blacks, Indians, or the poor as citizens worthy of the ballot. It took a series of constitutional amendments, all spurred by war or mass movements, to expand the electorate and redefine “we the people” to include all adult citizens as rulers. ‘Representation’ describes the various Amendments to the Constitution and the Voting Rights Act of 1965 that have reshaped what representation means.
8. Security
Authors: Bodenhamer David J.
Published: April 2018

Armed conflict poses an imminent threat to the nation’s existence, but so does suspension of the nation’s fundamental laws. The framers wrestled with how to grant government the power to defend the nation without providing it the means to threaten liberty. The question it raises—does war suspend the Constitution or does the Constitution control the conduct of the war—has rarely been absent from American history. ‘Security’ describes the impact of the Civil War, World War I, World War II, the Cold War, the Vietnam War, as well as the recent ‘war on terror’ on the nation’s laws, the executive presidential power, and the roles of the Supreme Court and Congress.
Epilogue
Authors: Bodenhamer David J.
Published: April 2018

The United States does not operate today under the Constitution ratified in 1788 or the Constitution as completed by the Bill of Rights in 1791 or even the one revised by the Reconstruction amendments. Nor is it the same nation. The United States, then a plural noun and now a collective one, has grown from thirteen states hugging the Atlantic seaboard to fifty states spread across a continent and beyond. It has experienced a civil war that ended one social and political regime and ultimately ushered in another far different from anything most people could have imagined in 1776 or even in 1865. From its beginnings as a second-rate country with a tiny navy and army, it has grown to become a global economic and military superpower. It is a democratic republic in which democracy weighs far more heavily in its constitutional and societal calculus than the framers would have endorsed. Its citizens vest government with the responsibility for safeguarding their prosperity, health, safety, and welfare in ways alien to the experiences of the founding generation....
Criminology: A Very Short Introduction
Authors: Newburn Tim
Published: April 2018

Criminology: A Very Short Introduction considers how to measure crime, how crime trends can be studied, and how those trends can be used to inform preventative policy and criminal justice. Analysing the history of the subject, it reflects on our understanding of and responses to crime in earlier historical periods. Considering trends in crime in the developed world, causes, and the relationship between drugs and crime are explored, analysing what we know about why people stop offending, and looking at both formal and informal responses to crime. It concludes by discussing what role criminology can plausibly be anticipated to have in crime control and politics, and what its limits are.
1. Introducing criminology
Authors: Newburn Tim
Published: April 2018

‘Introducing criminology’ explains that according to American criminologist, Edwin Sutherland, criminology is the body of knowledge regarding crime as a social phenomenon including within its scope the process of making and breaking laws, and reacting to the breaking of laws. Criminology dates back to the late 18th century when small groups of people developed an interest in explaining crime alongside their main occupations such as running asylums or collecting statistics on prisons or court proceedings. There was no form of collective enterprise until the end of the 19th century. During the 20th century, ‘criminology’ gradually formed and solidified. Its constitutive disciplines include sociology, history, psychology, law, and statistics.
2. What is crime?
Authors: Newburn Tim
Published: April 2018

‘What is crime?’ considers the definitions of crime. Should the focus be simply on violations of legal codes or should we extend it to violations of moral and social codes? The relativity of crime is also discussed: not everything that was once criminal remains so, and vice versa, and not everything considered criminal in one place is treated as criminal everywhere else. Is criminal justice effective? Through the process of criminal justice, criminals are constructed, but asking questions about what and who becomes labelled as a ‘crime’ or a ‘criminal’ necessarily invites one to contemplate the importance of power. Who makes the rules? Who do the rules affect, or protect?
8. How do we prevent crime?
Authors: Newburn Tim
Published: April 2018

It is often assumed that the criminal justice system is crucial in determining crime levels, but the available evidence does not bear this out. In fact, it is the processes of socialization underpinned and reinforced by informal social control that play a vital role in controlling crime. ‘How do we prevent crime?’ considers the various crime prevention techniques that have contributed substantially to recent apparent reductions in crime. It describes the distinction between social crime prevention, which tends to focus on fairly broad and deep issues, and situational crime prevention, which is narrower in focus, is pre-emptive, and seeks, through a variety of means, to reduce the opportunities for crime.
9. Where next for criminology?
Authors: Newburn Tim
Published: April 2018

Criminology’s concerns already encompass matters of sociology, psychology, law, political science, economics, history, and biology to name a few. Essentially, criminology’s focus remains those forms of human conduct we treat as criminal or deviant, or which produce such harms that intervention is argued to be necessary. ‘Where next for criminology?’ suggests that the swiftly changing nature of the world we inhabit poses huge challenges for criminologists that cannot be ignored: globalization, the increasingly complex and transnational nature of economic authority, the growing voluntary and forced movement of peoples across borders, the spreading power and influence of the Internet and new communication technologies, and the profound risks posed by environmental change.
MiRGOFS: a GO-based functional similarity measurement for miRNAs, with applications to the prediction of miRNA subcellular localization and miRNA–disease association
Authors: Yang Yang , Fu Xiaofeng , Qu Wenhao , Xiao Yiqun , Shen Hong-Bin
Published: April 2018

Motivation

Benefiting from high-throughput experimental technologies, whole-genome analysis of microRNAs (miRNAs) has been more and more common to uncover important regulatory roles of miRNAs and identify miRNA biomarkers for disease diagnosis. As a complementary information to the high-throughput experimental data, domain knowledge like the Gene Ontology and KEGG pathway is usually used to guide gene function analysis. However, functional annotation for miRNAs is scarce in the public databases. Till now, only a few methods have been proposed for measuring the functional similarity between miRNAs based on public annotation data, and these methods cover a very limited number of miRNAs, which are not applicable to large-scale miRNA analysis.

Results

In this paper, we propose a new method to measure the functional similarity for miRNAs, called miRGOFS, which has two notable features: (i) it adopts a new GO semantic similarity metric which considers both common ancestors and descendants of GO terms; (i) it computes similarity between GO sets in an asymmetric manner, and weights each GO term by its statistical significance. The miRGOFS-based predictor achieves an F1 of 61.2% on a benchmark dataset of miRNA localization, and AUC values of 87.7 and 81.1% on two benchmark sets of miRNA–disease association, respectively. Compared with the existing functional similarity measurements of miRNAs, miRGOFS has the advantages of higher accuracy and larger coverage of human miRNAs (over 1000 miRNAs).

Availability and implementation

http://www.csbio.sjtu.edu.cn/bioinf/MiRGOFS/

Supplementary information

Supplementary data are available at Bioinformatics online.
Determinants of Hearing Aid Use Among Older Americans With Hearing Loss
Authors: McKee Michael M , Choi HwaJung , Wilson Shelby , DeJonckheere Melissa J , Zazove Philip , Levy Helen
Published: April 2018

Background and Objectives

Hearing loss (HL) is common among older adults and is associated with significant psychosocial, cognitive, and physical sequelae. Hearing aids (HA) can help, but not all individuals with HL use them. This study examines how social determinants may impact HA use.

Research Design and Methods

We conducted an explanatory sequential mixed methods study involving a secondary analysis of a nationally representative data set, the Health and Retirement Study (HRS; n = 35,572). This was followed up with 1:1 qualitative interviews (n = 21) with community participants to clarify our findings. Both samples included individuals aged 55 and older with a self-reported HL, with or without HA. The main outcome measure was the proportion of participants with a self-reported HL who use HA.

Results and Discussion

Analysis of HRS data indicated that younger, nonwhite, non-Hispanic, lower income, and less-educated individuals were significantly less likely to use HA than their referent groups (all p values < .001). Area of residence (e.g., urban) were not significantly associated with HA use. Qualitative findings revealed barriers to HA included cost, stigma, vanity, and a general low priority placed on addressing HL by health care providers. Facilitators to obtaining and using HA included family/friend support, knowledge, and adequate insurance coverage for HA.

Implications

Many socioeconomic factors hinder individuals’ ability to obtain and use HA, but these obstacles appeared to be mitigated in part when insurance plans provided adequate HA coverage, or when their family/friends provided encouragement to use HA.
Picturing academic learning: salutogenic and health promoting perspectives on drawings
Authors: Garista Patrizia , Pocetta Giancarlo , Lindström Bengt
Published: April 2018

More than 20 years ago an article about the use of drawings in higher education appeared in a medical journal. After that, other papers explored the possible contribution of drawings in adult education, while only very few in the field of health promotion and education. This article aims to introduce the use of drawing in this field using the salutogenic lens to think, plan and reflect on academic learning. Reflections on what salutogenesis is and what we can consider a clear application of salutogenic principles to the learning process answer a hypothetical question for the reader concerning the relationship between drawings and health promotion theories. They appear as communication tools capable of exploring meaning-making processes, capturing data that is flexible to dynamic systems, power relations, as well as emotional and latent aspects of human experience. This article proposes a connection between salutogenesis and drawings through: a theoretical framework on salutogenic learning and drawings; a teacher practice and its tools focusing the critical point on visual data analysis in a learning environment; a learner case example for knowledge and capacity building through the drawing process; and a health promotion competency-based analysis. Our case example illustrates how drawings were introduced in a post-graduate course in Health Promotion and Education and argues their strengths and weaknesses.
Review of some scientific issues related to crustacean welfare
Authors: Diggles B K
Published: April 2018

The scientific literature on the subject of welfare and pain in crustaceans is immature. It is based largely on a few dubious and disputed studies done on a small number of decapod species in instances where nociception was not confirmed, laboratory artefacts occurred, all variables that potentially influence the results were not fully controlled, and interpretations of results were questionable or contradictory. The proposed criteria for pain being applied to crustaceans since 2014 has set the “evidential bar” for pain so low it is impossible to have confidence that the behaviours observed in many experiments are even due to nociception, extinguishing scientific confidence that these behaviours are in any way analogous to how the word pain is defined, used, and understood by humans. Given the critical flaws in design and interpretation of several crustacean “pain” studies, acceptance of claims of pain for these animals, even as a precautionary measure, represents acceptance of a much lower evidential bar than is usually dictated by normal scientific standards. This may lead to circumstances whereby the precautionary principle, underpinned by weak science, is used by decision makers to justify unnecessary constraints on scientific research or other uses of crustaceans, imparting significant costs to scientific programs (and potentially food production industries), which are likely to exceed any benefits from changes in welfare status that may (or may not) accrue to these animals.
The Degenerate Special Lagrangian Equation on Riemannian Manifolds
Authors: Dellatorre Matthew
Published: April 2018

We show that the degenerate special Lagrangian equation (DSL), recently introduced by Rubinstein–Solomon, induces a global equation on every Riemannian manifold, and that for certain associated geometries this equation governs, as it does in the Euclidean setting, geodesics in the space of positive Lagrangians. For example, geodesics in the space of positive Lagrangian sections of a smooth Calabi–Yau torus fibration are governed by the Riemannian DSL on the base manifold.

We then develop their analytic techniques, specifically modifications of the Dirichlet duality theory of Harvey–Lawson, in the Riemannian setting to obtain continuous solutions to the Dirichlet problem for the Riemannian DSL and hence continuous geodesics in the space of positive Lagrangians.
Theophrastus of Eresus
Authors: Baltussen Han
Published: April 2018

Theophrastus of Eresus (372/1–282/1 bce) came from the island of Lesbos (near Turkey) and was originally named Tyrtamus. Like many young men he was drawn to the metropolitan center of philosophical thought, Athens, and he studied briefly with Plato, then an old man (c. 356/5). But he went on to study with Aristotle, who gave him the name Theophrastus, “gifted speaker” (from theo- “divine” and phrazein “to speak”). Eventually they became colleagues and collaborators until Aristotle’s death (322 bce), at which point he became the next head of the Peripatetic school in Athens (322/1 bce). Important recent finds in Arabic and Syriac sources and the 1992 edition of the later sources for his life and works have given us a better understanding of his ideas, independence of thought, and influence. In addition, new editions of his botanical works and small treatises in natural science also increased our understanding of his approach and thought. His extant works and the fragments show him as a conscientious and wide-ranging scholar and researcher. While incomplete, the evidence still allows us to reconstruct his philosophical activities, for instance, in natural science, biology, psychology, human physiology, logic and rhetoric. He spent much of his time engaged in natural science, a field which had already become very broad under Aristotle. Theophrastus continued to work in several areas but added a considerable number of studies, some on topics of the inanimate world, such as fire, stones, winds and weather signs, as well as on matters of physiology (e.g., sweat, dizziness). He made important contributions of his own in ethics, botany, and the study of sense perception. A list of his works in Diogenes Laertius 5.42–50 contains some 220 titles, of which we still have his research into plants, nine short works, one large section of a survey of earlier views, and approximately eight hundred fragments found in later sources. Despite the partial survival of his output, he comes across as a productive philosopher and scientist, who managed to safeguard the intellectual inheritance of Aristotle and made his own contributions in logic, metaphysics, natural science, ethics, and the “history” of philosophy.
Integrated Care for the Use of Direct-acting Antivirals in Patients With Chronic Hepatitis C and Substance Use Disorder
Authors: Trabut Jean-Baptiste , Barrault Camille , Charlot Hélène , Carmona Damien , Bourdel Anne , Benslimane Mustapha , François Murielle , Kini-Matondo Willy , Causse Richard , Roudot-Thoraval Françoise , Hézode Christophe
Published: April 2018

Objectives:

Since little is currently known about predictors of response to direct-acting antiviral agents (DAAs) in people who inject drugs, we undertook an analysis of patients attending a hepatitis clinic with addiction services (outpatient clinics and inpatient services) to examine the outcomes associated with the treatment of difficult-to-manage patients with substance use. Our experience was based on integrated care.

Method:

A retrospective analysis was undertaken of 50 patients with hepatitis C virus (HCV) and a history of addiction who received treatment with DAAs, according to European guidelines. These regimens were sofosbuvir/ledipasvir for 8 weeks (n = 3), sofosbuvir/ledipasvir ± ribavirin for 12 weeks (n = 19), sofosbuvir/daclatasvir for 12 weeks (n = 20), sofosbuvir/simeprevir (n = 1), or sofosbuvir/daclatasvir for 24 weeks (n = 7). Characteristics of patients who did versus did not achieve a sustained virologic response (SVR) 12 weeks after treatment were compared by univariate analysis.

Results:

Forty-two patients (84%) were male; mean age was 46.2 ± 7.3 years. Genotypes were 1 (n = 21), 2 (n = 4), 3 (n = 18), 4 (n = 6), or 6 (n = 1). Most patients were treatment-naïve (n = 38). Five patients had coinfection with human immunodeficiency virus (n = 4) or hepatitis B (n = 1), 28 (56%) had evidence of cirrhosis on FibroScan (>12.5 kPa), and 34 (68%) were receiving opioid substitution therapy. Psychiatric disease, illicit drug use, unemployment, and homelessness/precarious housing were common. Forty-five patients (90%) achieved SVR, 2 were lost to follow-up, and 3 had treatment relapse.

Conclusions:

SVR was not significantly associated with sociodemographic or virological characteristics, treatment, social environment, alcohol/drug use, and adherence. Although adherence was slightly worse than in “usual” patients, it did not affect the SVR rate. In these difficult-to-manage patients with HCV and substance use disorder, the real-world SVR rate (90%) was similar to that in nonaddicted populations.
The Management of Vacuum-assisted Closure Following Vulvectomy with Skin Grafting
Authors: Hu Jun , Haefner Hope K.
Published: April 2018

Vulvectomies often require removal of large areas of vulvar skin, which may result in problems with wound healing, including infections and scarring. At times, skin grafting is needed following a vulvectomy, and for large excisions, a Foley catheter and rectal tube are often required. Vacuum-assisted closure (VAC) for vulvectomy, with or without skin grafting, has been used for a variety of vulvar conditions. The difficult portion of performing these procedures, with the use of the wound VAC, is obtaining an adequate seal around the Foley catheter and rectal tube. The authors present some useful tips to optimize obtaining and maintaining an adequate seal with the use of Hollister wafers and transparent film dressing during these procedures. This technique has been performed on over 25 patients since 2006. All extensive vulvar wounds requiring split-thickness skin grafts were dressed with a VAC device. With the use of these tips, surgery time and postoperative wound VAC leak alarms have decreased.
Comparative Impacts of Scala Vestibuli Versus Scala Tympani Cochlear Implantation on Auditory Performances and Programming Parameters in Partially Ossified Cochleae
Authors: Trudel Mathieu , Côté Mathieu , Philippon Daniel , Simonyan David , Villemure-Poliquin Noémie , Bussières Richard
Published: April 2018

Objective:

To compare scala vestibuli versus scala tympani cochlear implantation in terms of postoperative auditory performances and programming parameters in patients with severe scala tympani ossification.

Study Design:

Retrospective case-control study.

Setting:

Tertiary referral center.

Patients:

One hundred three pediatric and adult patients who underwent cochlear implant surgery between 2000 and 2016. Three groups were formed: a scala vestibuli group, a scala tympani with ossification group, and a scala tympani without ossification group. Patients were matched based on their age, sex, duration of deafness, and side of implantation (ratio of 1:2:2).

Interventions:

Postoperative evaluation of auditory performances and programming parameters following intensive functional rehabilitation program completion.

Main Outcome Measures:

Multimedia adaptive test (MAT), hearing in noise test (HINT SNR +10 dB, HINT SNR +5 dB, and HINT SNR +0 dB), impedances, neural response telemetry thresholds (NRT), neural response imaging thresholds (NRI), comfortable levels (C-levels), and threshold levels (T-levels) were compared between groups.

Results:

Twenty-one patients underwent scala vestibuli cochlear implantation: 19 adults and two children. Auditory performances were similar between groups, although sentence recognition in a noisy environment was slightly higher in the scala vestibuli group. Impedance values were also higher in the scala vestibuli group, but all other programming parameters were similar between groups.

Conclusions:

We present the largest series of patients with scala vestibuli cochlear implantation. This approach provides at least comparable auditory performances without having any deleterious effects on programming parameters. This viable and useful insertion route might be the primary surgical alternative when facing partial cochlear ossification.
Three-dimensional genome organization in normal and malignant haematopoiesis
Authors: Cuartero Sergi , Merkenschlager Matthias
Published: April 2018

Purpose of review

The three-dimensional organization of the genome inside the nucleus impacts on key aspects of genome function, including transcription, DNA replication and repair. The chromosome maintenance complex cohesin and the DNA binding protein CTCF cooperate to drive the formation of self-interacting topological domains. This facilitates transcriptional regulation via enhancer–promoter interactions, controls the distribution and release of torsional strain, and affects the frequency with which particular translocations arise, based on the spatial proximity of translocation partners. Here we discuss recent insights into the mechanisms of three-dimensional genome organization, their relationship to haematopoietic differentiation and malignant transformation.

Recent findings

Cohesin mutations are frequently found in myeloid malignancies. Significantly, cohesin mutations can drive increased self-renewal of haematopoietic stem and progenitor cells, which may facilitate the accumulation of genetic lesions and leukaemic transformation. It is therefore important to elucidate the mechanisms that link cohesin to pathways that regulate the balance between self-renewal and differentiation. Chromosomal translocations are key to lymphoid malignancies, and recent findings link three-dimensional genome organization to the frequency and the genomic position of DNA double strand breaks.

Three-dimensional genome organization can help explain genome function in normal and malignant haematopoiesis.
Intraductal Papillary Mucinous Neoplasm of the Pancreas as the Main Focus for Early Detection of Pancreatic Adenocarcinoma
Authors: Tanaka Masao
Published: April 2018

For early detection of pancreatic cancer, interests are now focused on the detection of high-risk individuals to undergo screening examinations. Intraductal papillary mucinous neoplasm (IPMN) is a unique dual precursor of pancreatic cancer, characterized by progression to invasive cancer and the development of pancreatic adenocarcinoma either concomitantly (synchronous occurrence) or even after resection of IPMN (metachronous occurrence). Careful examination and surveillance of patients with IPMN may therefore lead to early detection of pancreatic cancer. By reviewing only reports describing detailed breakdown of the morphological types of IPMN and numbers of patients with noninvasive and invasive carcinoma in each type, the rough frequencies of noninvasive carcinoma in main duct IPMNs and branch duct IPMNs (BD-IPMNs) are 20% and 10%, respectively, and those of invasive carcinoma are 40% and 13%, respectively. Roughly 5% of all patients with IPMN had concomitant adenocarcinoma. The real frequency of carcinoma in BD-IPMNs would be far lower because most patients with small asymptomatic BD-IPMNs do not undergo resection. Intraductal papillary mucinous neoplasm can be the main focus for early detection of pancreatic cancer to achieve favorable prognosis after surgical resection. The optimal protocol for surveillance and method for early detection of pancreatic cancer are to be determined.
Safety of Dexamethasone for Nausea and Vomiting Prophylaxis in Children Receiving Hematopoietic Stem Cell Transplantation
Authors: Paw Cho Sing Edric , Schechter Tal , Ali Muhammad , Sung Lillian , Dupuis L. Lee
Published: April 2018

Background:

Many children undergoing hematopoietic stem cell transplantation (HSCT) experience chemotherapy-induced nausea and vomiting (CINV) despite receiving prophylaxis. Guideline-consistent CINV prophylaxis includes dexamethasone, but uncertainty with regard to safety potentially limits the use of dexamethasone in children. We describe immediate adverse events (AEs) attributable to dexamethasone given for CINV prophylaxis to children during HSCT conditioning.

Materials and Methods:

Children enrolled in a previous prospective study were retrospectively analyzed. Objective parameters related to specific AEs occurring within 5 days of dexamethasone administration were abstracted from health records and graded according to the Common Terminology Criteria for Adverse Events version 4.03 (CTCAE v4.03). Their association to dexamethasone was assessed using the Liverpool Causality Assessment Tool.

Results:

Forty-six children (median age, 10.2 y) were eligible for analysis. The most frequent AEs attributable to dexamethasone (Liverpool Causality Assessment Tool category of probable or definite) were hyperglycemia (63%; CTCAE v4.03 grade 3: 2%), hypertension (52%; CTCAE v4.03 grade 3: 15%), and bradycardia (46%; CTCAE v4.03 grade 3: 0%). Other AEs included dyspepsia or gastroesophageal reflux disease (24%) and alterations in mood and behavior (9%). No AE exceeded CTCAE v4.03 grade 3 in severity.

Conclusions:

In children undergoing HSCT who received dexamethasone for CINV prophylaxis, immediate AEs attributable to dexamethasone were most often of minor clinical importance and transient.
Undifferentiated Embryonal Sarcoma of the Liver (UESL) in Adolescents: An Unexpected Diagnosis
Authors: Capozza Michele A. , Ruggiero Antonio , Maurizi Palma , Mastrangelo Stefano , Attinà Giorgio , Triarico Silvia , Vellone Maria , Giuliante Felice
Published: April 2018

Definitive diagnosis of pediatric liver masses can be challenging, because clinical manifestations are nonspecific, and ultimate diagnosis may be delayed. We describe 2 patients with liver masses that initially were misdiagnosed and treated as infectious hepatic lesions. Only after histologic examination the correct diagnosis of undifferentiated embryonal sarcoma of the liver was defined. Both patients underwent a complete tumor resection followed by chemotherapy with a favorable outcome.
A Novel Mutation c.153 C>A in a Tunisian Girl With Wolman Disease and Unusual Presentation: Hemophagocytic Lymphohistiocytosis
Authors: Tinsa Faten , Ben Romdhane Manel , Boudabous Hela , Bel Hadj Imen , Brini Ines , Tebib Neji , Louati Hela , Bekri Soumeya , Boussetta Khadija
Published: April 2018

Wolman disease is an ultrarare lysosomal storage disease caused by a mutation in the LIPA gene. The clinical features of Wolman disease include early onset of vomiting, diarrhea, failure to thrive, hepatosplenomegaly, and bilateral adrenal calcification. We report the case of a 3-month-old infant who presented clinical features of hemophagocytic lymphohistiocytosis. Genetic sequence analysis of the LIPA gene revealed homozygous mutation c.153 C>A (p.Tyr51*). The parents were heterozygous for this mutation. Prenatal diagnosis has been carried out in the next pregnancy. To our knowledge, this mutation has never been reported before, and this is an unusual case of secondary hemophagocytic lymphohistiocytosis complicating Wolman disease.
Novel Variations of FANCA Gene Provokes Fanconi Anemia: Molecular Diagnosis in a Special Chinese Family
Authors: Li Niu , Song Aiyun , Ding Lixia , Zhu Hua , Li Guoqiang , Miao Yan , Wang Jian , Li Benshang , Chen Jing
Published: April 2018

Fanconi anemia (FA) is a rare autosomal recessive or X-linked disorder with highly variable clinical manifestations and an incidence of ∼1 to 5 in 1 million births. To date, 15 bona fide FA genes have been reported to be responsible for the known FA complementation groups and the FANCA gene accounts for almost 60%. In the present study, we report a special Chinese family, which has 2 children with classic FA characteristics. Via 2-step analysis of the whole-exome sequencing data and verification using multiplex ligation–dependent probe amplification test, one child was found to have a novel compound heterozygous mutation of a splicing variant (c.1471-1G>A) and a large intragenic deletion (exons 23-30 del) of the FANCA gene. The other child had the same splicing variant and another novel large deletion (exons 1-18 del) in the FANCA gene. Clone sequencing showed the c.1471-1G>A variant generate an altered transcript with 1 cryptic splice site in intron 15, resulting in a premature termination codon (p.Val490HisfsX6). This study not only shows the complexity of FA molecular diagnosis via comprehensively studying the FA pathogenic genes and the mutational spectrum, but also has significant reference value for the future molecular diagnosis of FA.
Skin to Skin Contact
Authors: Billner-Garcia Renee , Spilker Arlene , Goyal Deepika
Published: April 2018

Purpose:

The purpose of this project was to assess temperature stability in newborns undergoing early intraoperative skin-to-skin contact (SSC) after elective cesarean birth.

Method:

This feasibility study examined electronic medical record data of 91 mother–baby dyads who participated in early intraoperative SSC after an elective cesarean birth. Infant axillary temperatures were obtained just before initiation and upon completion of intraoperative SSC.

Results:

The mean age of women in this sample was 35 (SD, 4.2) years. They were an average of 39 4/7 weeks gestation, and largely Caucasian 55% (n = 50) and Asian 30 (33%). Fifty-eight percent (n = 53) of infants were male, weighing an average of 3,566 g (SD, 401.83). Nineteen (21%) of infants demonstrated no temperature change pre to post SSC, with an increase noted in 32 (35%) infants, and a decrease in 40 (44%).

Clinical Implications:

Findings provide support for continued intraoperative SSC. Areas for improvement were also identified, for example, missing medical record data.
Underserved Pregnant and Postpartum Women's Access and Use of Their Health Records
Authors: Guo Yuqing , Hildebrand Janet , Rousseau Julie , Brown Brandon , Pimentel Pamela , Olshansky Ellen
Published: April 2018

Purpose:

The purpose of this study was to examine knowledge of and experiences with use of their electronic health record (EHR) among mostly Hispanic women during pregnancy and postpartum.

Methods:

Women who were in the MOMS Orange County prenatal or postpartum home visitation program completed surveys and participated in focus groups. Descriptive and content analyses were used.

Results:

Twenty-six women participated. Nearly all women (24, 92.3%) knew what health records were and most (80.8%) felt that keeping their records would increase or greatly increase their confidence in caring for themselves and their families. Approximately one third reported already keeping a copy of their health records. Common barriers to accessing and understanding health records included healthcare providers' noncompliance with the Health Information Technology for Economic and Clinical Health Act, limited EHR adoption, unfriendly patient portals, complicated medical terminology, rushed appointments with healthcare providers, lack of Spanish interpreters, and lack of Spanish-speaking healthcare providers.

Clinical Implications:

Programs are needed to educate and support women and providers in using health records to promote health literacy, pregnancy management, and patient–provider relationships in underserved populations.
The Anatomy behind Adverse Events in Hand Volumizing Procedures: Retrospective Evaluations of 11 Years of Experience
Authors: Frank Konstantin , Koban Konstantin , Targosinski Stefan , Erlbacher Katharina , Schenck Thilo L. , Casabona Gabriela , Braz Andre V. , Pavicic Tatjana , Cotofana Sebastian
Published: April 2018

Background:

To retrospectively evaluate the rate of adverse events after hand volumizing procedures using a calcium hydroxylapatite product and to investigate the relationship between injector used (i.e., needle versus cannula) and technique applied (i.e., bolus, tenting, proximal-to-distal fanning, distal-to-proximal single line).

Methods:

Two hundred twenty individuals, including 214 women (97.3 percent) aged 52.3 ± 11.4 years, treated bilaterally for hand rejuvenation were investigated between the years 2006 and 2017. Cadaveric dissections (n = 12), fluoroscopic (n = 4), ultrasound (n = 22), and computed tomographic (n = 4) imaging were also performed to guide conclusions.

Results:

Thirty-two of 440 hands (7.3 percent) developed adverse events within the first 15 days, with swelling in 11 (5 percent), pain in four (1.8 percent), erythema in three (1.4 percent), and discoloration in one (0.5 percent). Using a needle (versus a cannula) was significantly related to the occurrence of adverse events (OR, 7.57; 95 percent CI, 3.76 to 15.24; p < 0.001). The proximal-to-distal fanning technique with access to the dorsal superficial lamina was identified as a safer application technique, with each of the other techniques having a significantly increased odds ratio for adverse events: bolus technique (OR, 26.9; 95 percent CI, 6.87 to 105.2; p < 0.001), tenting technique (OR, 24.73; 95 percent CI, 7.48 to 81.76; p < 0.001), and single-line technique (OR, 26.68; 95 percent CI, 7.45 to 95.48; p < 0.001).

Conclusions:

The results of this study support the use of cannula versus needle and the proximal-to-distal fanning technique. The underlying anatomy supports the positioning of the material into the subdermal space, which can be identified less than 1 mm deep to the skin surface, and is termed the dorsal superficial lamina.
Evaluating Platelet-Rich Therapy for Facial Aesthetics and Alopecia: A Critical Review of the Literature
Authors: Motosko Catherine C. , Khouri Kimberly S. , Poudrier Grace , Sinno Sammy , Hazen Alexes
Published: April 2018

Background:

Despite the growing popularity of platelet-rich plasma, existing evidence supporting its efficacy remains controversial due to the lack of large-scale studies and standardized protocols for preparation and application. This article reviews its use in facial rejuvenation, fat grafting, acne scarring, and androgenic alopecia. Emphasis is placed on comparing methods of platelet-rich plasma preparation and application across studies.

Methods:

A systematic review was performed for articles published between 2006 and 2015. All clinical studies and case reports that addressed platelet-rich plasma alone and/or in combination with fat grafting for facial rejuvenation, acne scarring, or androgenic alopecia were included.

Results:

Of the 22 articles included in the analysis, seven studies used platelet-rich plasma alone for facial rejuvenation, seven in combination with fat grafting, two for treatment of acne scarring, and six for treatment of androgenic alopecia. Individual study procedures, means of evaluation, and significant results are summarized. Although the majority of studies in this review report positive results, significant variation exists in preparation protocols and in the number and frequency of clinical treatments.

Conclusions:

The majority of studies report positive results for all indications evaluated in this review, but the procedure is limited by the lack of a standardized method for preparation and application of platelet-rich plasma. The extent to which significant variability in platelet-rich plasma preparation and/or application methods may affect clinical outcomes is not completely clear. In the interim, we present a consolidation of platelet-rich plasma treatment techniques and outcomes currently in use to help guide physicians in their clinical practice.
Mechanical versus Hand-Sewn Venous Anastomoses in Free Flap Reconstruction: A Systematic Review and Meta-Analysis
Authors: Zhu Zaiou , Wang Xiang , Huang Jia , Li Jialiang , Ding Xu , Wu Heming , Yuan Ye , Song Xiaomeng , Wu Yunong
Published: April 2018

Background:

Venous complications are the primary reason for flap loss in massive defect reconstructions; therefore, the quality and reliability of microvascular anastomoses are significant. The aim of this systematic review was to evaluate venous anastomotic time, the venous complication rate, and the flap failure rate with the mechanical anastomotic coupling device versus the hand-sewn technique in venous anastomoses of microvascular free flap operations.

Methods:

Chinese and English databases were searched for eligible articles published between their inception and July of 2017. The pooled relative risk was calculated for dichotomous variables, and the weighted mean difference was calculated for continuous data. Whether to use the fixed effects or random effects model depended on the heterogeneity evaluation among the studies.

Results:

Twelve studies were selected, including 3788 flaps (mechanical anastomotic coupling device, n = 1667; hand-sewn, n = 2121). Using the mechanical anastomotic coupling device significantly decreased venous anastomotic time (weighted mean difference, −13.50; 95 percent CI, −17.09 to −9.91; p < 0.01) and the incidence of venous complications (relative risk, 0.40; 95 percent CI, 0.25 to 0.65; p < 0.01). There was a significant difference in terms of flap failure between the groups (relative risk, 0.56; 95 percent CI, 0.32 to 0.97; p = 0.04); thus, flap survival improved with the assistance of the mechanical anastomotic coupling device. No publication bias was detected in those analyses.

Conclusion:

This meta-analysis suggests that the mechanical anastomotic coupling device contributes to reduced operative time, decreased probability of surgical reexploration, and mitigation of flap loss.
Photoacoustic Tomography Shows the Branching Pattern of Anterolateral Thigh Perforators In Vivo
Authors: Tsuge Itaru , Saito Susumu , Sekiguchi Hiroyuki , Yoshikawa Aya , Matsumoto Yoshiaki , Toi Masakazu , Suzuki Shigehiko
Published: April 2018

The distal branching pattern of perforators is associated with thin anterolateral thigh flap failure. The purpose of this study was to investigate the feasibility of using photoacoustic tomography as a diagnostic imaging modality to identify anterolateral thigh perforators and their branching patterns in the subcutaneous layer. Ten thighs in five healthy men were studied. The anterolateral aspect of the midthigh was examined using photoacoustic tomography. The correlation between photoacoustic tomography and ultrasound findings was evaluated. To determine the detectability of photoacoustic tomography by depth, the depth of vessels in the stem portion was compared to the depth of the deep fascia measured by ultrasound. Branching patterns of vessels in the adipose and suprafascial layers were evaluated by three-dimensional observation. A total of 18 perforators were visualized by photoacoustic tomography. Photoacoustic tomography and ultrasound had comparable diagnostic potential for the detection of perforators. Photoacoustic tomography visualized microvessels in the subcutaneous layer, especially those in oblique or horizontal orientations. The estimated mean depth of visualized vessels was 9 mm; the maximum depth was 13 mm. There was a strong correlation between the depth of visualized vessels in the stem portion and the depth of the deep fascia. Three-dimensional observation of photoacoustic tomographic images showed the branching morphology of perforators. This study showed the applicability of photoacoustic tomography to identification of the branching patterns of anterolateral thigh perforators in vivo, although limited visualization of subfascial vessels is a technical issue. The authors believe that photoacoustic tomography has the potential to be a new imaging modality for thin anterolateral thigh flap surgery.

CLINICAL QUESTION/LEVEL OF EVIDENCE:

Diagnostic, IV.
The Evolving Presence of Women in Academic Plastic Surgery: A Study of the Past 40 Years
Authors: Plana Natalie M. , Khouri Kimberly S. , Motosko Catherine C. , Stern Marleigh J. , Anzai Lavinia , Poudrier Grace , Massie Jonathan P. , Diaz-Siso J. Rodrigo , Flores Roberto L. , Hazen Alexes
Published: April 2018

Background:

Among surgical subspecialties, plastic surgery holds the highest percentage of women, and, the female contingent of board-certified plastic surgeons and trainees has grown steadily. However, their academic impact has been underestimated. We present the academic footprint of female plastic surgeons over the past 40 years.

Methods:

A list of female plastic surgeons currently active at, and retired from, Accreditation Council for Graduate Medical Education–accredited plastic surgery residency programs was compiled. Each surgeon was searched on PubMed to gather their total number of publications, journals, and topics of research after completion of training. Date of publication and 5-year impact factor for each journal were recorded. Publications were organized into 10-year periods (1976 to 1985, 1986 to 1995, 1996 to 2005, and 2006 to 2016).

Results:

One hundred fifty-five currently active and 80 retired academic female plastic surgeons were identified, who published 2982 articles in 479 peer-reviewed journals. The average 5-year impact factor was 4.093. The number of publications increased with each decade: 37 (1976 to 1985), 218 (1986 to 1995), 472 (1996 to 2005), and 2255 (2006 to 2016). The most commonly published areas were hand/nerve (22 percent), craniofacial (21 percent), and breast (20 percent). Over time, publications in hand/nerve research decreased (76, 60, 38, and 14 percent, respectively); craniofacial-related publications increased (8, 11, 18, and 23 percent, respectively); and publications in breast research increased (0, 8, 9, and 24 percent, respectively). The 2006 to 2016 period yielded the most even distribution of research topics.

Conclusion:

The academic contribution of female plastic surgeons has substantially increased in number and has become more evenly distributed across subspecialty topics.
Refinements in Upper Blepharoplasty: The Five-Step Technique
Authors: Rohrich Rod J. , Villanueva Nathaniel L. , Afrooz Paul N.
Published: April 2018

Periorbital tissues are a keystone in facial beauty and a representation of youth. The aesthetically pleasing and youthful upper eyelids are full, with a defined tarsal upper lid crease and with smooth, taut pretarsal and preseptal skin. The upper blepharoplasty is a critical component of any facial rejuvenation procedure. This five-step procedure provides key steps in the correction of upper lid age-related changes and provides a reliable and reproducible method of achieving excellent results. Furthermore, the addition of fractionated fat restores volume and youthfulness of the upper lid, and also improves the skin quality of the upper lid.
FusoPortal: An interactive repository of hybrid MinION-sequenced Fusobacterium genomes improves gene identification and characterization
Authors: Sanders Blake E. , Umana Ariana , Lemkul Justin A. , Slade Daniel J.
Published: April 2018

Here we present FusoPortal, an interactive repository of Fusobacterium genomes that were sequenced using a hybrid MinION long-read sequencing pipeline, followed by assembly and annotation using a diverse portfolio of predominantly open-source software. Significant efforts were made to provide genomic and bioinformatic data as downloadable files, including raw sequencing reads, genome maps, gene annotations, protein functional analysis and classifications, and a custom BLAST server for FusoPortal genomes. FusoPortal has been initiated with eight complete genomes, of which seven were previously only drafts that varied from 24-67 contigs. We showcase that genomes in FusoPortal provide accurate open reading frame annotations, and have corrected a number of large genes (>3 kb) that were previously misannotated due to contig boundaries. In summary, FusoPortal (http://fusoportal.org) is the first database of MinION sequenced and completely assembled Fusobacterium genomes, and this central Fusobacterium genomic and bioinformatic resource will aid the scientific community in developing a deeper understanding of how this human pathogen contributes to an array of diseases including periodontitis and colorectal cancer.

Importance

In this study, we report a hybrid MinION whole genome sequencing pipeline, and describe the genomic characteristics of the first eight strains deposited in the FusoPortal database. This collection of highly accurate and complete genomes drastically improves upon previous multi-contig assemblies by correcting and newly identifying a significant number of open reading frames. We believe this resource will result in the discovery of proteins and molecular mechanisms used by an oral pathogen, with the potential to further our understanding of how F. nucleatum contributes to a repertoire of diseases including periodontitis, pre-term birth, and colorectal cancer
Investigating the relationship between phoneme categorization and reading ability
Authors: O’Brien Gabrielle E. , McCloy Daniel R. , Kubota Emily C. , Yeatman Jason D.
Published: April 2018

Dyslexia is associated with abnormal performance on many auditory psychophysics tasks, particularly those involving the categorization of speech sounds. However, it is debated whether those apparent auditory deficits arise from (a) reduced sensitivity to particular acoustic cues, (b) the difficulty of experimental tasks, or (c) unmodeled lapses of attention. Here we investigate the relationship between phoneme categorization and reading ability, with special attention to the nature of the cue encoding the phoneme contrast (static versus dynamic), differences in task paradigm difficulty, and methodological details of psychometric model fitting. We find a robust relationship between reading ability and categorization performance, show that task difficulty cannot fully explain that relationship, and provide evidence that the deficit is not restricted to dynamic cue contrasts, contrary to prior reports. Finally, we demonstrate that improved modeling of behavioral responses suggests that the gap between dyslexics and typical readers may be smaller than previously reported.