bluuebunny/crossref_metadata_2025 huggingface dataset:
The Legal Limit: Differences in Injury Severity Score for Vehicular Crashes
Authors: Sorrentino Christopher J. , Schulz John , Chaudry Aisha , Cohen Eric , Friedman Yelena
Published: July 2016

In 2013, the National Transportation Safety Board advised lawmakers in the United States to reduce the legal limit of blood alcohol content (BAC) from 0.08% to 0.05%. The purpose of this research was to evaluate the rationale for reducing the legal limit of BAC to 0.05% through analysis of the relationship between BAC and injury severity. A correlational study was conducted on patients with positive BAC involved in a motor vehicular collision. Retrospective review of 446 trauma patients (aged 18–80 years) injured in a vehicular collision routinely screened for BAC was conducted. Two groups were compared: Group 1, patients with nonzero blood alcohol concentration (n = 101); and Group 2, patients with zero blood alcohol (n = 345). Standard statistical analyses were utilized. A total of 101 patients (23%) had a detectable BAC on admission. Patients with a detectable BAC were younger (33 and 44 years) and more likely to be male (27% and 16%). There was no statistically significant association between both injury severity score (ISS) and BAC or between ISS and age. There was no significant correlation between higher BAC and a higher ISS. Positive BAC alone may not affect ISS, but the potential for risk-taking behaviors by drivers under the influence may increase injury severity.
The Relationship Between Traumatic Injury in Children and Long-Term Use of Health and Social Services by Children and Their Families
Authors: Garnett Anna , Browne Gina
Published: July 2016

To increase understanding of relationships between general traumatic injury in children and long-term use of resources in the health care and social services (HSS) sectors by these children and their families 8–10 years after traumatic injury. This study was a cross-sectional retrospective cohort study of prognosis from 2001 to 2003 that quantified recent expenditures on and use of HSS by children and also by their parents. Forty-eight cases of children were selected from the Hamilton Health Sciences pediatric trauma database in the period from January 2001 to December 2003 after incurring a traumatic injury with Injury Severity Score greater than 12. The average total cost to the HSS system per child's family was $4,326.62 during the preceding 6 months. During the same period, average use of HSS was 7 visits. Total service costs incurred by caregivers of injured children increased with severity of the traumatic injury (p= .009). Caregiver HSS use was higher when the injury was caused by a motor vehicle accident than by other types of accidents (p< .001) and increased with the injury severity (p< .001). HSS use by children was related to gender (p< .001), injury mechanism (p< .001), age at accident (p< .001), and time since accident (p= .012), among other factors. Pediatric trauma appears to have long-term effects on expenditures on and use of HSS by the affected children and their families. The findings emphasize the need for long-term assessment and possible delivery of services to the families of the injured children.
The interaction between thyroid and kidney disease: an overview of the evidence
Authors: Rhee Connie M.
Published: July 2016

Purpose of review

Hypothyroidism is highly prevalent in chronic kidney disease (CKD) patients, including those receiving dialysis. This review examines potential mechanistic links between thyroid and kidney disease; current evidence for hypothyroidism as a risk factor for de novo CKD and CKD progression; and studies of thyroid functional disorders, cardiovascular disease, and death in the CKD population.

Recent findings

Epidemiologic data have demonstrated an incrementally higher prevalence of hypothyroidism with increasing severity of kidney dysfunction. Various thyroid functional test abnormalities are also commonly observed in CKD due to alterations in thyroid hormone synthesis, metabolism, and regulation. Although the mechanistic link between thyroid and kidney disease remains unclear, observational studies suggest that hypothyroidism is associated with abnormal kidney structure and function. Previously thought to be a physiologic adaptation, recent studies show that hypothyroidism is associated with higher risk of cardiovascular disease and death in CKD.

A growing body of evidence suggests that hypothyroidism is a risk factor for incident CKD, CKD progression, and higher death risk in kidney disease patients. Rigorous studies are needed to determine the impact of thyroid hormone replacement upon kidney disease progression, cardiovascular disease, and mortality, which may shed light onto the causal implications of hypothyroidism in CKD.
Trends in Syphilis Partner Notification Among Gay, Bisexual, and Other Men who Have Sex With Men in British Columbia, 2010 to 2013
Authors: Deonarine Andrew , Ogilvie Gina , Montgomery Carolyn , Makaroff Sylvia , Holgerson Natalie , Grennan Troy , Gilbert Mark , Wong Jason
Published: July 2016

Chart reviews of 350 randomly sampled syphilis cases of men who had sex with men in British Columbia from 2010 to 2013 revealed no change in the median number of partners per case, and an increasing proportion of partners notified by cases but fewer partners were known to be tested for syphilis.
Understanding and Treating Myopia: What More We Need to Know and Future Research Priorities
Authors: McFadden Sally A.
Published: July 2016

Tantalizing treatment options to limit further global increases in the prevalence of myopia are emerging. However, to design more effective interventions, we still need to learn more about the underlying causes of myopia and the associated biological changes. Based on the outcomes of the 2015 International Myopia Conference, this short article summarizes what more we still need to discover and suggests possible priorities for future research.
Antineoplastic Treatment and Renal Injury: An Update on Renal Pathology Due to Cytotoxic and Targeted Therapies
Authors: Troxell Megan L. , Higgins John P. , Kambham Neeraja
Published: July 2016

Cancer patients experience kidney injury from multiple sources, including the tumor itself, diagnostic procedures, hypovolemia, infection, and drug exposure, superimposed upon baseline chronic damage. This review will focus on cytotoxic or targeted chemotherapy-associated renal injury. In this setting, tubulointerstitial injury and thrombotic microangiopathy (vascular injury) are more common than other forms of kidney injury including glomerular. Cisplatin, pemetrexed, and ifosfamide are well-known causes of acute tubular injury/necrosis. Acute interstitial nephritis seems underrecognized in this clinical setting. Interstitial nephritis is emerging as an “immune-related adverse effect” (irAE's) with immune checkpoint inhibitors in small numbers of patients. Acute kidney injury is rarely reported with targeted therapies such as BRAF inhibitors (vemurafinib, dabrafenib), ALK inhibitors (crizotinib), and mTOR inhibitors (everolimus, temsirolimus), but additional biopsy data are needed. Tyrosine kinase inhibitors and monoclonal antibodies that block the vascular endothelial growth factor pathway are most commonly associated with thrombotic microangiopathy. Other causes of thrombotic microangiopathy in the cancer patients include cytotoxic chemotherapies such as gemcitabine and mitomycin C, hematopoietic stem cell transplant, and cancer itself (usually high-stage adenocarcinoma with marrow and vascular invasion). Cancer patients are historically underbiopsied, but biopsy can reveal type, acuity, and chronicity of renal injury, and facilitate decisions concerning continuation of chemotherapy and/or initiation of renoprotective therapy. Biopsy may also reveal unrelated and unanticipated findings in need of treatment.
Classification of Extraovarian Implants in Patients With Ovarian Serous Borderline Tumors (Tumors of Low Malignant Potential) Based on Clinical Outcome
Authors: McKenney Jesse K. , Gilks C. Blake , Kalloger Steve , Longacre Teri A.
Published: July 2016

The classification of extraovarian disease into invasive and noninvasive implants predicts patient outcome in patients with high-stage ovarian serous borderline tumors (tumors of low malignant potential). However, the morphologic criteria used to classify implants vary between studies. To date, there has been no large-scale study with follow-up data comparing the prognostic significance of competing criteria. Peritoneal and/or lymph node implants from 181 patients with high-stage serous borderline tumors were evaluated independently by 3 pathologists for the following 8 morphologic features: micropapillary architecture; glandular architecture; nests of epithelial cells with surrounding retraction artifact set in densely fibrotic stroma; low-power destructive tissue invasion; single eosinophilic epithelial cells within desmoplastic stroma; mitotic activity; nuclear pleomorphism; and nucleoli. Follow-up of 156 (86%) patients ranged from 11 to 264 months (mean, 89 mo; median, 94 mo). Implants with low-power destructive invasion into underlying tissue were the best predictor of adverse patient outcome with 69% overall and 59% disease-free survival (P<0.01). In the evaluation of individual morphologic features, the low-power destructive tissue invasion criterion also had excellent reproducibility between observers (κ=0.84). Extraovarian implants with micropapillary architecture or solid nests with clefts were often associated with tissue invasion but did not add significant prognostic value beyond destructive tissue invasion alone. Implants without attached normal tissue were not associated with adverse outcome and appear to be noninvasive. Because the presence of invasion in an extraovarian implant is associated with an overall survival analogous to that of low-grade serous carcinoma, the designation low-grade serous carcinoma is recommended. Even though the low-power destructive tissue invasion criterion has excellent interobserver reproducibility, it is further recommended that the presence of an invasive implant be confirmed by at least 2 pathologists (preferably at least 1 of whom is an experienced gynecologic pathologist) in order to establish the diagnosis of-low grade serous carcinoma.
Ectopic Hamartomatous Thymoma—New Insights Into a Challenging Entity
Authors: Weissferdt Annikka , Kalhor Neda , Petersson Fredrik , Moran Cesar A.
Published: July 2016

Nine cases of ectopic hamartomatous thymoma are described. The patients were 5 men and 4 women aged 34 to 52 years (mean, 43 y). All patients presented with solitary lower neck masses ranging in size from 3.5 to 8.0 cm (mean, 5.4 cm). Grossly, the lesions were circumscribed and lobulated masses with a fleshy white cut surface; cystic changes were identified in 3 cases. Histologically, the tumors were composed of varying proportions of spindle cells arranged in fascicles, mature adipose tissue, and an epithelial component composed of squamoid elements and glandular or ductal structures. In 1 case, duct-like structures dominated the histologic picture. Structures reminiscent of Hassall corpuscles were identified in 2 cases. No overt malignant changes were seen, and the mitotic activity ranged from 0 to 2 mitoses per 10 high-power fields. Immunohistochemically, the spindle cells coexpressed CK5/6, CD34, and smooth muscle actin, whereas the squamous component was positive for CK5/6 only. Bcl-2 was variably expressed in the spindle and epithelial elements, whereas Pax8 and STAT6 were uniformly negative. Clinical follow-up revealed that all patients were alive and well 2 to 5 years after diagnosis. Ectopic hamartomatous thymomas are benign neoplasms with a wide morphologic spectrum. The histologic and immunohistochemical features are reminiscent of thymic derivation and suggest possible origin from remnants of the thymic anlage. Changes in the nomenclature may be advised to more specifically designate tumor differentiation and to avoid confusion with true thymomas as these represent entirely separate clinicopathologic entities.
A More Rapid, Rapid Response
Authors: Robison Justin , Slamon Nicholas B.
Published: July 2016

Objectives:

Critical care physicians’ standard for arrival to a rapid response team activation is 10 minutes or less at this institution. This study proposes that a FaceTime (Apple, Cupertino, CA) video call between the staff at the bedside and the critical care physician will allow the implementation of potentially life-saving therapies earlier than the current average response (4.5 min).

Design:

Prospective cohort study.

Setting:

Freestanding, tertiary-care children’s hospital.

Patients:

Pediatric patients ages 0-17.

Interventions:

Six units were chosen as matched pairs. In the telemedicine units, after notification of an rapid response team, the critical care intensivist established a FaceTime video call with the nurse at the bedside and gathered history, visually assessed the patient, and suggested interventions. Simultaneously, the rapid response nurse, respiratory therapist, and fellow were dispatched to respond to the bedside. After the video call, the intensivist also reported to the bedside. The control units followed the standard rapid response team protocol: the intensivist physically responded to the bedside. Differences in response time, number of interventions, Pediatric Early Warning System scores, and disposition were measured, and the PICU course of those transferred was evaluated.

Measurements and Main Results:

The telemedicine group’s average time to establish FaceTime interface was 2.6 minutes and arrival at bedside was 3.7 minutes. The control group average arrival time was 3.6 minutes. The difference between FaceTime interface and physical arrival in the control group was statistically significant (p = 0.012). Physical arrival times between the telemedicine and control groups remained consistent. Fifty-eight percent of the telemedicine patients and 73% of the control patients were admitted to the PICU (p = 0.13). Of patients transferred to the PICU, there was no difference in rate of intubation, initiation of bilevel positive airway pressure, central line placement, or vasopressors. The study group averaged 1.4 interventions and a Pediatric Early Warning Signs score of 3.6. The control group averaged 1.9 interventions and a Pediatric Early Warning Signs score of 3.1 (p = not significant).

Conclusion:

FaceTime allowed the intensivist to become involved earlier and provide immediate guidance to the inpatient care teams. However, it did not clinically alter the patient course. Further study is necessary.
A Randomized Evaluation of a Demand Creation Lottery for Voluntary Medical Male Circumcision Among Adults in Tanzania
Authors: Bazant Eva , Mahler Hally , Machaku Michael , Lemwayi Ruth , Kulindwa Yusuph , Gisenge Lija Jackson , Mpora Baraka , Ochola Denice , Sarkar Supriya , Williams Emma , Plotkin Marya , Juma James
Published: July 2016

Background:

Uptake of voluntary medical male circumcision (VMMC) among adult men has fallen short of targets in Tanzania. We evaluated a smartphone raffle intervention designed to increase VMMC uptake in three regions.

Methods:

Among 7 matched pairs of health facilities, 1 in each pair was randomly assigned to the intervention, consisting of a weekly smartphone raffle for clients returning for follow-up and monthly raffle for peer promoters and providers. VMMC records of clients aged 20 and older were analyzed over three months, with the number performed compared with the same months in the previous year. In multivariable models, the intervention's effect on number of VMMCs was adjusted for client factors and clustering. Focus groups with clients and peer promoters explored preferences for VMMC incentives.

Results:

VMMCs increased 47% and 8% in the intervention and control groups, respectively; however, the changes were not significantly different from one another. In the Iringa region subanalysis, VMMCs in the intervention group increased 336% (exponentiated coefficient of 3.36, 95% CI: 1.14 to 9.90; P = 0.028), after controlling for facility pair, percentage of clients ≥ age 30, and percentage testing HIV positive; the control group had a more modest 63% significant increase (exponentiated coefficient 1.63, 95% CI: 1.18 to 2.26; P = 0.003). The changes were not significantly different. Focus group respondents expressed mixed opinions about smartphone raffles; some favored smaller cash incentive or transportation reimbursement.

Implications:

A smartphone raffle might increase VMMC uptake in some settings by helping late adopters move from intention to action; however, there is no recommendation for this intervention more generally.
The Effects of Providing Fixed Compensation and Lottery-Based Rewards on Uptake of Medical Male Circumcision in Kenya: A Randomized Trial
Authors: Thirumurthy Harsha , Masters Samuel H. , Rao Samwel , Murray Kate , Prasad Ram , Zivin Joshua G. , Omanga Eunice , Agot Kawango
Published: July 2016

Background:

Effective demand creation strategies are needed to increase uptake of medical male circumcision and reduce new HIV infections in eastern and southern Africa. Building on insights from behavioral economics, we assessed whether providing compensation for opportunity costs of time or lottery-based rewards can increase male circumcision uptake in Kenya.

Methods:

Uncircumcised men aged 21–39 years were randomized in 1:1:1 ratio to 2 intervention groups or a control group. One intervention group was offered compensation of US $12.50 conditional on circumcision uptake. Compensation was provided in the form of food vouchers. A second intervention group was offered the opportunity to participate in a lottery with high-value prizes on undergoing circumcision. The primary outcome was circumcision uptake within 3 months.

Results:

Among 903 participants enrolled, the group that received compensation of US $12.50 had the highest circumcision uptake (8.4%, 26/308), followed by the lottery-based rewards group (3.3%, 10/302), and the control group (1.3%, 4/299). Logistic regression analysis showed that compared with the control group, the fixed compensation group had significantly higher circumcision uptake [adjusted odds ratio 7.1; 95% CI: 2.4 to 20.8]. The lottery-based rewards group did not have significantly higher circumcision uptake than the control group (adjusted odds ratio 2.5; 95% CI: 0.8 to 8.1).

Conclusions:

Providing compensation was effective in increasing circumcision uptake among men over a short period. The results are consistent with studies showing that such interventions can modify health behaviors by addressing economic barriers and behavioral biases in decision making. Contrary to findings from studies of other health behaviors, lottery-based rewards did not significantly increase circumcision uptake.

Trial Registration:

Registry for International Development Impact Evaluations: RIDIE-STUDY-ID-530e60df56107.
Transgender People and HIV Prevention: What We Know and What We Need to Know, a Call to Action
Authors: Mayer Kenneth H. , Grinsztejn Beatriz , El-Sadr Wafaa M.
Published: July 2016

Transgender people have been disproportionally affected by HIV, particularly transgender women. Their increased vulnerability to HIV is due to multiple issues, including biological (eg, increased efficiency of HIV transmission through receptive anal sex), epidemiological (eg, increased likelihood of having HIV-infected partners), structural (eg, social stigma limiting employment options), and individual factors (eg, internalized stigma leading to depression and substance use and risk-taking behaviors). There have been limited culturally appropriate HIV prevention interventions for transgender people, with many key prevention studies (eg, the iPrEx PrEP study) enrolling transgender women in a study focusing on men who have sex with men. This has resulted in limited understanding of the optimal ways to decrease transgender people's risk for HIV acquisition. The current supplement of JAIDS is designed to review what is known about HIV prevention for transgender people and to highlight new insights and best practices. The study reviews recent epidemiologic data, the pharmacology of HIV prophylactic agents in individuals who may be using exogenous hormones, and several recent multi-component interventions designed to address the lived experience of transgender people. Additionally, the study reviews the work going on at the NIH to address transgender health in general and HIV prevention in specific, as well as two important papers related to clinical trial design issues and the ethical conduct of research in this frequently disenfranchised population. It is the hope of the HIV Prevention Trials Network (HPTN) that this supplement will promote new knowledge around transgender health and the requisite issues that need to be addressed in order to conduct optimal clinical trials. The ultimate hope is that the information distilled in this supplement will inform investigators, clinicians, and public health officials in order to design further research to develop optimal prevention interventions for transgender people and to implement these interventions in ways that are culturally congruent and health promoting.
Integrated and Gender-Affirming Transgender Clinical Care and Research
Authors: Reisner Sari L. , Radix Asa , Deutsch Madeline B.
Published: July 2016

Transgender (trans) communities worldwide, particularly those on the trans feminine spectrum, are disproportionately burdened by HIV infection and at risk for HIV acquisition/transmission. Trans individuals represent an underserved, highly stigmatized, and under-resourced population not only in HIV prevention efforts but also in delivery of general primary medical and clinical care that is gender affirming. We offer a model of gender-affirmative integrated clinical care and community research to address and intervene on disparities in HIV infection for transgender people. We define trans terminology, briefly review the social epidemiology of HIV infection among trans individuals, highlight gender affirmation as a key social determinant of health, describe exemplar models of gender-affirmative clinical care in Boston MA, New York, NY, and San Francisco, CA, and offer suggested “best practices” for how to integrate clinical care and research for the field of HIV prevention. Holistic and culturally responsive HIV prevention interventions must be grounded in the lived realities the trans community faces to reduce disparities in HIV infection. HIV prevention interventions will be most effective if they use a structural approach and integrate primary concerns of transgender people (eg, gender-affirmative care and management of gender transition) alongside delivery of HIV-related services (eg, biobehavioral prevention, HIV testing, linkage to care, and treatment).
An Overview of Asian Rhinoplasty
Authors: Li Dong , An Yang , Yang Xin
Published: July 2016

East Asian rhinoplasty is an expanding topic in the field of rhinoplasty. Although the main principles of various rhinoplasty techniques apply equally to the East Asian nose, East Asian rhinoplasty is unique owing to its different anatomy and ethnicity. In recent years, there have been some noteworthy developments in East Asian rhinoplasty. Traditional techniques using alloplastic implants with endonasal approach are changing due to the advent of new beauty concept, introduction of new techniques, and development of newly improved materials expended polytetrafluoroethylene as an alloplastic material has gained popularity in Asian augmentation rhinoplasty. Soft expended polytetrafluoroethylene sheets as augmentation material provide promise in the future. In this review, we will highlight some of the recent advances of Asian rhinoplasty with emphasis on dorsal augmentation, advances in implant material, and tip surgery using autologous cartilage.
The Role of Crowdsourcing in Assessing Surgical Skills
Authors: Katz Andrew J.
Published: July 2016

Background:

Assessing surgical skill is critical in improving patient care while reducing medical errors, length of stay, and readmission rates. Crowdsourcing provides 1 potential method for accurately assessing this; only recently has crowdsourcing been studied as a valid way to provide feedback to surgeons. The results of such studies are explored.

Data Sources:

A systematic literature search was performed on PubMed to identify studies that have attempted to validate crowdsourcing as a method for assessing surgical skill. Through a combination of abstract screening and full-length review, 9 studies that met the inclusion criteria were reviewed.

Conclusions:

Crowdsourcing has been validated as an important way to provide feedback for surgical skill. It has been demonstrated to be effective in both dry-lab and live surgery, for a variety of tasks and methods. However, more studies must be performed to ensure that crowdsourcing can provide quality feedback in a wider variety of scenarios.
Delayed Diagnosis of Vesicouterine Fistula After Treatment for Mixed Urinary Incontinence: Menstrual Cup Management and Diagnosis
Authors: Goldberg Leah , Elsamra Sammy , Hutchinson-Colas Juana , Segal Saya
Published: July 2016

Introduction

A vesicouterine fistula is a rare form of urogenital fistula, yet there is increasing prevalence in the United States because of the rising rate of cesarean deliveries. Vesicouterine fistulas have various presentations including menouria, hematuria, or urinary incontinence.

Case Presentation

A 39-year-old multiparous woman presented with urine leakage after her third cesarean delivery. She had been treated for mixed urinary incontinence with overactive bladder medications and a midurethral sling with continued complaints of urine leakage. The patient noticed her symptoms of urine leakage improved during menses when she used a menstrual cup. After confirmation of vesicouterine fistula, the patient underwent robotic-assisted surgery and her symptoms of insensible urine leakage resolved.

Conclusions

When evaluating women with urinary incontinence and a history of cesarean deliveries, use of menstrual cup may aid in the diagnosis of vesicouterine fistula. Robotic-assisted laparoscopic repair with tissue interposition flap is an efficacious minimally invasive method for treatment of vesicouterine fistula.
Molecular genetic aetiology of general cognitive function is enriched in evolutionarily conserved regions
Authors: Hill W. D. , Davies G. , Harris S. E , Hagenaars S. P. ,   The neuroCHARGE Cognitive Working group, Liewald D. C. , Penke L. , Gale C. R. , Deary Ian
Published: July 2016

Differences in general cognitive function have been shown to be partly heritable and to show genetic correlations with a several psychiatric and physical disease states. However, to date few single nucleotide polymorphisms (SNPs) have demonstrated genome-wide significance, hampering efforts aimed at determining which genetic variants are most important for cognitive function and which regions drive the genetic associations between cognitive function and disease states. Here, we combine multiple large genome-wide association study (GWAS) data sets, from the CHARGE cognitive consortium and UK Biobank, to partition the genome into 52 functional annotations and an additional 10 annotations describing tissue-specific histone marks. Using stratified linkage disequilibrium score regression we show that, in two measures of cognitive function, SNPs associated with cognitive function cluster in regions of the genome that are under evolutionary negative selective pressure. These conserved regions contained ~2.6% of the SNPs from each GWAS but accounted for ~ 40% of the SNP-based heritability. The results suggest that the search for causal variants associated with cognitive function, and those variants that exert a pleiotropic effect between cognitive function and health, will be facilitated by examining these enriched regions.
A correlation between Long noncoding RNA and unpaired DNA silencing in Drosophila
Authors: Pal-Bhadra Manika , Bag Indira , Pushpavalli Sreerangam N.C. L.V , Surolia Avadhesha , Bhadra Utpal
Published: July 2016

Hybrid transgenes are often recognized as foreign genetic material by cell surveillance mechanisms and are repressed in expression inversely to their copy numbers. Here, we compare the expression of multipleAdh-promoter-whitereporter (Adh-w) inserts in paired and unpaired configurations inDrosophilasomatic cells. The unpaired copies exhibit a clear repression at the transcriptional level relative to paired gene dosage effect, which is dependent upon long noncoding RNA,Polycombandpiwi. Deficiency mapping usingAdh-wconstructs showed that a minimal sequence of 532 bp of theAdhpromoter is required for unpaired DNA silencing. Long noncoding RNA detected from this region of theAdhpromoter is abundant in the unpaired condition. It serves as a docking site for at least two proteins POLYCOMB and Piwi that are essential for active transcriptional silencing. The lesser abundance of noncoding RNAs in the paired configuration only allows PC binding. An active RNA-Protein complex binds to unpaired copies. The loss-of-functionpiwimutation relieves transcriptional silencing even in association with POLYCOMB. It suggests that functional RNA-Piwi complex might create a silencing driven chromatin configuration by accumulating histone modifying enzymes at theAdh-wpromoter target. This distinct transcriptional silencing that is stronger for unpaired DNA represents a novel mechanism to repress new transposon and foreign DNA insertions for protection of genome integrity.
A massively parallel strategy for STR marker development, capture, and genotyping
Authors: Kistler Logan , Johnson Stephen M. , Irwin Mitchell T. , Louis Edward E. , Ratan Aakrosh , Perry George H.
Published: July 2016

Short tandem repeat (STRs or microsatellites) variants, are highly polymorphic markers that facilitate powerful, high-precision population genetic analyses. STRs are especially valuable in conservation and ecological genetic research, yielding detailed information on population structure and short-term demographic flux. However, STR marker development and analysis by conventional PCR-based methods imposes a workflow bottleneck and is suboptimal for noninvasive sampling strategies such as fecal DNA recovery. While massively parallel sequencing has not previously been leveraged for scalable, efficient STR recovery, here we present a pipeline for developing STR markers directly from high-throughput shotgun sequencing data without requiring a reference genome assembly, and a methodological approach for highly parallel recovery of enriched STR loci. We first employed our approach to design and capture a panel of 5,000 STR loci from a test group of diademed sifakas (Propithecus diadema, n=3), endangered Malagasy rainforest lemurs, and we report extremely efficient recovery of targeted loci—97.3-99.6% of STRs characterized with ≥10x non-redundant coverage. Second, we tested our STR capture strategy on aP. diademafecal DNA preparation, and report robust initial results and methodological suggestions for future implementations. In addition to STR targets, this approach also generates large, genome-wide single nucleotide polymorphism (SNP) panels from regions flanking the STR loci. Our method provides a cost-effective and highly scalable solution for rapid recovery of large STR and SNP datasets in any species without need for a reference genome, and can be used even with suboptimal DNA, which is more easily acquired in conservation and ecological genetic studies.

Data Deposition

Raw sequencing data are available under Study Accession numbers SRP073167 (genomic shotgun data for Oberon and Tatiana) and SRP076225 (targeted re-sequencing data) from the NCBI Sequence Read Archive. BaitSTR software is available at Github (core BaitSTR programs:https://github.com/aakrosh/BaitSTR; BaitSTR_type.pl companion script for genotyping and block manipulation:https://github.com/lkistler/BaitSTR_type).
A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia
Authors: Moskowitz Abby M. , Belnap Newell , Siniard Ashley L. , Szelinger Szabolcs , Claasen Ana M. , Richholt Ryan F. , De Both Matt , Corneveaux Jason J. , Balak Chris , Piras Ignazio S. , Russell Megan , Courtright Amanda L. , Rangasamy Sampath , Ramsey Keri , Craig David W. , Narayanan Vinodh , Huentelman Matt J. , Schrauwen Isabelle
Published: July 2016

Recently, mutations in the zinc finger MYND-type containing 11 (ZMYND11) gene were identified in patients with autism spectrum disorders, intellectual disability, aggression, and complex neuropsychiatric features, supporting that this gene is implicated in 10p15.3 microdeletion syndrome. We report a novel de novo variant in the ZMYND11 gene (p.Ser421Asn) in a patient with a complex neurodevelopmental phenotype. The patient is a 24-yr-old Caucasian/Filipino female with seizures, global developmental delay, sensorineural hearing loss, hypotonia, dysmorphic features, and other features including a happy disposition and ataxic gait similar to Angelman syndrome. In addition, this patient had uncommon features including eosinophilic esophagitis and multiple, severe allergies not described in similar ZMYND11 cases. This new case further supports the association of ZMYND11 with autistic-like phenotypes and suggests that ZMYND11 should be included in the list of potentially causative candidate genes in cases with complex neurodevelopmental phenotypes.
Pre‐discharge home visits by occupational therapists completed for patients following hip fracture
Authors: Lockwood Kylee J. , Taylor Nicholas F. , Boyd Jude N. , Harding Katherine E.
Published: July 2016

Background/aim

Home visits by occupational therapists are a routine part of practice, but there remains little understanding about factors that are associated with the decision to complete a home visit. The aim of this study was to investigate the rate of pre‐discharge home visits by occupational therapists for patients following hip fracture and explore factors associated with their occurrence.

Methods

A retrospective cohort study including 293 patients admitted to a metropolitan health service following hip fracture. Multi‐variate logistic regression was used to identify significant variables associated with receiving a home visit.

Results

Home visits were conducted by occupational therapists for 28% of patients admitted from a private residence, and for less than 5% of patients admitted from low‐level residential care facilities. The variables significantly associated with receiving a home visit at a private residence were older age and being admitted to a rehabilitation ward, but the model only explained between 9% and 13% of the variance. Other clinical and socio‐demographic variables evaluated were not associated with the provision of a home visit.

Conclusions

About one in four people admitted to hospital from a private residence following hip fracture receive a home visit. The results suggest that whether or not a patient receives a home visit has little to do with socio‐demographic or clinical factors at the time of admission to hospital. There remains much unexplained variation in whether or not a patient receives a home visit and this study highlights the diversity that exists in clinical practice.
Whey protein polymerisation and its applications in environmentally safe adhesives
Authors: Guo Mingruo , Wang Guorong
Published: July 2016

Whey protein is a group of globular proteins from cheese whey. It is a safe, degradable, renewable and abundant natural material compared with synthetic polymers. Native whey proteins do not exhibit good adhesive properties due to their low molecular weights and compact globular structures; however, under thermal treatment, these globular structures can be unfolded to form polymers or aggregates through intermolecular disulphide bonds via a thiol–disulphide interchange. Heat‐induced whey protein polymer exhibits good adhesive properties. With the addition of a cross‐linker, stabiliser or co‐binder, different types of wood and paper adhesives can be formulated using polymerised whey protein.
School‐age children enjoyed good respiratory health and fewer allergies despite having lung disease after preterm birth
Authors: Ronkainen Eveliina , Kaukola Tuula , Marttila Riitta , Hallman Mikko , Dunder Teija
Published: July 2016

Aim

This study explored the under‐researched area of whether preterm birth or bronchopulmonary dysplasia (BPD) affected hospitalisation rates, allergies or health‐related quality of life (HRQoL).

Methods

We studied 88 schoolchildren born preterm at a mean gestational age of 28.8 weeks (range 24.1–31.9) and matched term‐born controls at the mean age of 11 years (range 8–14). Hospitalisations after the first discharge were recorded, skin prick allergy tests were performed and HRQoL was assessed with a parental questionnaire.

Results

Preterm children were hospitalised more than controls (64% versus 39%, p = 0.001), mostly before two years of age. The adjusted odds ratios (OR) for two‐year‐old preterm‐born children being hospitalised for wheezing was 8.2 (95% CI 2.0–34.1). BPD affected 56% of the preterm children, but did not influence hospitalisations, and the positive skin prick rate was similar between the preterm and term‐born children (35% versus 48%, p = 0.126). Preterm BPD children had fewer positive skin prick tests than those without BPD. HRQoL was lower in preterm than term children (81.25 ± 10.84 versus 86.80 ± 9.60, p = 0.001).

Conclusion

Most health problems experienced by preterm‐born schoolchildren occurred before two years of age and were mainly wheezing disorders. BPD decreased atopy but had no influence on hospitalisation rates.
4D in vivo imaging of glomerular barrier function in a zebrafish podocyte injury model
Authors: Siegerist F. , Zhou W. , Endlich K. , Endlich N.
Published: July 2016

Aim

Zebrafish larvae with their simplified pronephros are an ideal model to study glomerular physiology. Although several groups use zebrafish larvae to assess glomerular barrier function, temporary or slight changes are still difficult to measure. The aim of this study was to investigate the potential of in vivo two‐photon microscopy (2‐PM) for long‐term imaging of glomerular barrier function in zebrafish larvae.

Methods

As a proof of principle, we adapted the nitroreductase/metronidazole model of targeted podocyte ablation for 2‐PM. Combination with a strain, which expresses eGFP‐vitamin D‐binding protein in the blood plasma, led to a strain that allowed induction of podocyte injury with parallel assessment of glomerular barrier function. We used four‐dimensional (4D) 2‐PM to assess eGFP fluorescence over 26 h in the vasculature and in tubules of multiple zebrafish larvae (5 days post‐fertilization) simultaneously.

Results

By 4D 2‐PM, we observed that, under physiological conditions, eGFP fluorescence was retained in the vasculature and rarely detected in proximal tubule cells. Application of metronidazole induced podocyte injury and cell death as shown by TUNEL staining. Induction of podocyte injury resulted in a dramatic decrease of eGFP fluorescence in the vasculature over time (about 50% and 90% after 2 and 12 h respectively). Loss of vascular eGFP fluorescence was paralleled by an endocytosis‐mediated accumulation of eGFP fluorescence in proximal tubule cells, indicating proteinuria.

Conclusion

We established a microscopy‐based method to monitor the dynamics of glomerular barrier function during induction of podocyte injury in multiple zebrafish larvae simultaneously over 26 h.
‘She was like a mother and a father to me’: searching for the ideal mentor for youth in care
Authors: Sulimani‐Aidan Yafit
Published: July 2016

Recent studies of youth in out‐of‐home placements have indicated that a successful mentoring relationship in care is associated with better emotional, educational and behavioural outcomes in adulthood. The goal of this exploratory qualitative study is to describe the profile of a staff member who is able to establish a meaningful relationship with youth in care through the perspectives of 20 young adults aged 21–26 who left care in Israel. Findings revealed that the staff member who formed meaningful relationships with youth was the staff member who was available to the youth and familiar with their personal backgrounds, who was able to see them as positive and trustworthy and to provide guidance and support from a non‐judgmental approach. One of the study's conclusions is that staff members who were able to transform their connection with the youth into mentoring relationships were those who were able to make the youth feel as if they were the staff member's own children, and as a result feel cared for deeply and loved. The discussion addresses the barriers in forming a mentoring relationship with a formal professional and the ways to utilize these mentoring relationship components more effectively within the care system.
Genetic risk factors for venous thrombosis in women using combined oral contraceptives: update of the PILGRIM study
Authors: Suchon P. , Al Frouh F. , Ibrahim M. , Sarlon G. , Venton G. , Alessi M.‐C. , Trégouët D.‐A. , Morange P.‐E.
Published: July 2016

Identifying women at risk of venous thrombosis (VT) under combined oral contraceptives (COC) is a major public health issue. The aim of this study was to investigate in COC users the impact on disease of genetic polymorphisms recently identified to associate with VT risk in the general population. Nine polymorphisms located on KNG1, F11, F5, F2, PROCR, FGG, TSPAN and SLC44A2 genes were genotyped in a sample of 766 patients and 464 controls as part of the PILGRIM (PILl Genetic Risk Monitoring) study. Cases were women who experienced an episode of documented VT during COC use, while controls were women with no history of VT using COC at the time of inclusion. Among the studied polymorphisms, only F11 rs2289252 was significantly associated with VT. The F11 rs2289252‐A allele was associated with a 1.6‐fold increased risk of VT (p < 0.0001). Besides, the combination of the rs2289252‐A allele with non‐O blood group, present in 52% of the cohort, was associated with an odds ratio of 4.00 (2.49–6.47; p < 10−4). The consideration of this genetic risk factor could help to better assess the risk of VT in COC users.
Fracture resistance of implant‐supported screw‐retained zirconia‐based molar restorations
Authors: Honda Junichi , Komine Futoshi , Kamio Shingo , Taguchi Kohei , Blatz Markus B. , Matsumura Hideo
Published: July 2016

Objectives

The objective of this in vitro study was to investigate fracture loads of screw‐retained zirconia‐based molar restorations (hybrid abutment crown) fabricated with different restorative materials and designs.

Material and methods

Forty‐four screw‐retained zirconia‐based molar restorations were fabricated on dental implants and divided into four groups (n = 11): porcelain‐layered zirconia‐based restorations (PLZ), indirect composite‐layered zirconia‐based restorations (ILZ), metal–ceramic restorations (MC), and monolithic zirconia restorations (MONO). The zirconia‐based restorations in the PLZ, ILZ, and MONO groups were adhesively bonded on implant abutments with a dual‐polymerized resin material. All restorations were tightened on implant bodies with titanium screws and were tested for fracture resistance. The Kruskal–Wallis test and Steel–Dwass test were used to evaluate differences in fracture loads (α = 0.05).

Results

As compared with the other groups, the MONO specimens had a significantly higher mean fracture resistance (7.54 kN); no significant differences were found among the PLZ (1.96 kN), ILZ (1.80 kN), and MC (1.45 kN) groups (P > 0.05). For the PLZ, ILZ, and MC groups, all specimens fractured within the layering materials. In contrast, the fracture mode for the MONO group was complete fracture of the restorations.

Conclusions

All restorations withstood the masticatory forces. Fracture loads were significantly higher for screw‐retained implant‐supported monolithic zirconia restorations than for screw‐retained bilayered restorations. For the screw‐retained bilayered zirconia‐based restorations, the fracture resistance of ILZ restorations was comparable to that of PLZ restorations and MC restorations.
Single‐center experience of living donor liver transplantation in patients with portal vein thrombosis
Authors: Song Sanghyun , Kwon Choon Hyuck David , Kim Jong Man , Joh Jae‐Won , Lee Suk‐Koo
Published: July 2016

Background

Portal vein thrombosis (PVT) is a relative contraindication in living donor liver transplantation (LDLT). We investigated the long‐term outcome of adult patients with PVT in LDLT.

Methods

Between 2004 and 2009, 471 cases of adult LDLT were performed and 56 patients had PVT (11.8%). Thrombectomy was attempted using a modified eversion technique. We evaluated the outcome of patients with PVT according to grade and compared with no‐PVT patients.

Results

There was no difference in terms of age, gender, Child‐Pugh score, MELD score, proportion of malignance, operation time, and total amount of transfused blood. Complete thrombectomy was successful in 73.2% (41/56), partial thrombectomy in 26.8% (15/56), and one case needed jump graft for portal vein reconstruction. Among patients with partial thrombectomy, when the PV velocity was above 20 cm/s, the remnant thrombus disappeared in 46%. The rate of PV complication was statistically not different (8.9% vs 3.4%, P=.062). Five‐year survival of mild PVT was 69.3%, 60.6% for severe PVT, and 80.4% for no‐PVT (P=.059).

Conclusions

Eversion thrombectomy by modified technique is feasible in most cases of PVT. Good long‐term outcome may be expected in LDLT with PVT.
Reconstruction of the historical distribution of sturgeons (Acipenseridae) in the eastern North Atlantic based on ancientDNAand bone morphology of archaeological remains: implications for conservation and restoration programmes
Authors: Nikulina Elena A. , Schmölcke Ulrich
Published: July 2016

Aim

In the 19th/early 20th century, overfishing caused a drastic decline and finally extinction of the local sturgeon populations in the eastern Atlantic. To date, it is not known whether it wasAcipenser sturioor the primarily North AmericanAcipenser oxyrinchusthat occurred here. The aim of the study was to show the historical pattern of sturgeon distribution and their diversity in this area over the last 2500 years. This question is essential for international restoration programmes.

Location

North‐east Atlantic.

Methods

The study is based on 438 archaeological sturgeon remains from the estuaries of the rivers Rhine, Ems, Weser, Elbe and Eider. All bones were analysed morphologically and in 38 cases genetically by the amplification of two mitochondrialDNAfragments.

Results

The data from the bones older than 1000 years show that only 1.4% derive fromA. sturio. In the south, this species was slightly more frequent. From the Elbe northwards,A. oxyrinchuswas for a long time by far the dominant sturgeon species.

Main conclusions

The genetic identification of the oldest sturgeon bone showsA. oxyrinchusoccurred in the north‐eastern Atlantic already 6000 years ago. Consequently, the immigration of this species from North America to Europe occurred even earlier, potentially during the last glacial. The north–south occurrence of the two sturgeon species suggests that the distribution was the result of interspecific competition under different and changing environmental conditions. As previously published, genetic data from about 100‐ to 200‐year‐old museum specimens show strong dominance ofA. sturioin the North Sea area, obviouslyA. oxyrinchushas been replaced in the time between 1000 and 200 years ago. Therefore, the Holocene distribution of sturgeons in the north‐east Atlantic had a complex pattern. Determining the ecological bases of this distribution is important for the justification and success of restoration programmes.