bluuebunny/crossref_metadata_2025 huggingface dataset:
Prognostic Impact of Intra-abdominal/Pelvic Inflammation After Radical Surgery for Locally Recurrent Rectal Cancer
Authors: Tanaka Masahiro , Kanemitsu Yukihide , Shida Dai , Ochiai Hiroki , Tsukamoto Shunsuke , Nagino Masato , Moriya Yoshihiro
Published: July 2017

BACKGROUND:

The influence of postoperative infectious complications, such as anastomotic leakage, on survival has been reported for various cancers, including colorectal cancer. However, it remains unclear whether intra-abdominal/pelvic inflammation after radical surgery for locally recurrent rectal cancer is relevant to its prognosis.

OBJECTIVE:

The purpose of this study was to evaluate factors associated with survival after radical surgery for locally recurrent rectal cancer.

DESIGN:

The prospectively collected data of patients were retrospectively evaluated.

SETTINGS:

This study was conducted at a single-institution tertiary care cancer center.

PATIENTS:

Between 1983 and 2012, patients who underwent radical surgery for locally recurrent rectal cancer with curative intent at the National Cancer Center Hospital were reviewed.

MAIN OUTCOME MEASURES:

Factors associated with overall and relapse-free survival were evaluated.

RESULTS:

During the study period, a total of 180 patients were eligible for analyses. Median blood loss and operation time for locally recurrent rectal cancer were 2022 mL and 634 minutes. Five-year overall and 3-year relapse-free survival rates were 38.6% and 26.7%. Age (p = 0.002), initial tumor stage (p = 0.03), pain associated with locally recurrent rectal cancer (p = 0.03), CEA level (p = 0.004), resection margin (p < 0.001), intra-abdominal/pelvic inflammation (p < 0.001), and surgery period (p = 0.045) were independent prognostic factors associated with overall survival, whereas CEA level (p = 0.01), resection margin (p = 0.002), and intra-abdominal/pelvic inflammation (p = 0.001) were associated with relapse-free survival. Intra-abdominal/pelvic inflammation was observed in 45 patients (25.0%). A large amount of perioperative blood loss was the only factor associated with the occurrence of intra-abdominal/pelvic inflammation (p = 0.007).

LIMITATIONS:

This study was limited by its retrospective nature and heterogeneous population.

CONCLUSIONS:

Intra-abdominal/pelvic inflammation after radical surgery for locally recurrent rectal cancer is associated with poor prognosis. See Video Abstract at http://journals.lww.com/dcrjournal/Pages/videogallery.aspx.
Temperature-Controlled Delivery of Radiofrequency Energy in Fecal Incontinence: A Randomized Sham-Controlled Clinical Trial
Authors: Visscher Arjan P. , Lam Tze J. , Meurs-Szojda Maria M. , Felt-Bersma Richelle J. F.
Published: July 2017

BACKGROUND:

Controlled delivery of radiofrequency energy has been suggested as treatment for fecal incontinence.

OBJECTIVE:

The aim of this study was to determine whether the clinical response to the radiofrequency energy procedure is superior to sham in patients with fecal incontinence.

DESIGN:

This was a randomized sham-controlled clinical trial from 2008 to 2015.

SETTING:

This study was conducted in an outpatient clinic.

PATIENTS AND METHODS:

Forty patients with fecal incontinence in whom maximal conservative management had failed were randomly assigned to receiving either radiofrequency energy or sham procedure.

MAIN OUTCOME MEASURES:

Fecal incontinence was measured using the Vaizey incontinence score (range, 0–24). The impact of fecal incontinence on quality of life was measured by using the fecal incontinence quality-of-life score (range, 1–4). Measurements were performed at baseline and at 6 months. Anorectal function was evaluated using anal manometry and anorectal endosonography at baseline and at 3 months.

RESULTS:

At baseline, Vaizey incontinence score was 16.8 (SD 2.9). At t = 6 months, the radiofrequency energy group improved by 2.5 points on the Vaizey incontinence score compared with the sham group (13.2 (SD 3.1), 15.6 (SD 3.3), p = 0.02). The fecal incontinence quality-of-life score at t = 6 months was not statistically different. Anorectal function did not show any alteration.

LIMITATIONS:

Patients with severe fecal incontinence were included in the study, thus making it difficult to generalize the results.

CONCLUSIONS:

Both radiofrequency energy and sham procedure improved the fecal incontinence score, the radiofrequency energy procedure more than sham. Although statistically significant, the clinical impact for most of the patients was negligible. Therefore, the radiofrequency energy procedure should not be recommended for patients with fecal incontinence until patient-related factors associated with treatment success are known. See Video Abstract at http://links.lww.com/DCR/A373.
The Diagon/Gel Implant: A Preliminary Report of 894 Cases
Authors: Stan Constantin , Biggs Thomas
Published: July 2017

Background:

The breast has always been perceived as the emblem of femininity. Desire of having an ideal breast form has been of interest for a long time.

Methods:

This preliminary article is a retrospective analysis of 894 cases of breast augmentation with Diagon/Gel breast implants covered with a micropolyurethane foam (Microthane). The surgical technique employed is a modified dual plane, which enables us to use a new anatomical implant to move the glandular parenchyma into a higher position.

Results:

The study extended from January 2010 to September 2015, during which no breast implant developed Baker grade III or IV capsular contracture (CC) and only a few adverse events occurred. Patients reported to be highly satisfied with the final outcome, which was very natural both in the form and movement.

Conclusions:

The new concept of Diagon/Gel represents the next step in the evolutionary progress of breast implants and allows the surgeon to perform not only a breast augmentation but also parenchymal elevation, which otherwise would have required a mastopexy, and we have called it breast enhancement.
Contextual influences on pain communication in couples with and without a partner with chronic pain
Authors: Gagnon Michelle M. , Hadjistavropoulos Thomas , MacNab Ying C.
Published: July 2017

This is an experimental study of pain communication in couples. Despite evidence that chronic pain in one partner impacts both members of the dyad, dyadic influences on pain communication have not been sufficiently examined and are typically studied based on retrospective reports. Our goal was to directly study contextual influences (ie, presence of chronic pain, gender, relationship quality, and pain catastrophizing) on self-reported and nonverbal (ie, facial expressions) pain responses. Couples with (n = 66) and without (n = 65) an individual with chronic pain (ICP) completed relationship and pain catastrophizing questionnaires. Subsequently, one partner underwent a pain task (pain target, PT), while the other partner observed (pain observer, PO). In couples with an ICP, the ICP was assigned to be the PT. Pain intensity and PO perceived pain intensity ratings were recorded at multiple intervals. Facial expressions were video recorded throughout the pain task. Pain-related facial expression was quantified using the Facial Action Coding System. The most consistent predictor of either partner's pain-related facial expression was the pain-related facial expression of the other partner. Pain targets provided higher pain ratings than POs and female PTs reported and showed more pain, regardless of chronic pain status. Gender and the interaction between gender and relationship satisfaction were predictors of pain-related facial expression among PTs, but not POs. None of the examined variables predicted self-reported pain. Results suggest that contextual variables influence pain communication in couples, with distinct influences for PTs and POs. Moreover, self-report and nonverbal responses are not displayed in a parallel manner.
CRISPR/Cas9 editing of Nf1 gene identifies CRMP2 as a therapeutic target in neurofibromatosis type 1-related pain that is reversed by (S)-Lacosamide
Authors: Moutal Aubin , Yang Xiaofang , Li Wennan , Gilbraith Kerry B. , Luo Shizhen , Cai Song , François-Moutal Liberty , Chew Lindsey A. , Yeon Seul Ki , Bellampalli Shreya S. , Qu Chaoling , Xie Jennifer Y. , Ibrahim Mohab M. , Khanna May , Park Ki Duk , Porreca Frank , Khanna Rajesh
Published: July 2017

Neurofibromatosis type 1 (NF1) is a rare autosomal dominant disease linked to mutations of the Nf1 gene. Patients with NF1 commonly experience severe pain. Studies on mice with Nf1 haploinsufficiency have been instructive in identifying sensitization of ion channels as a possible cause underlying the heightened pain suffered by patients with NF1. However, behavioral assessments of Nf1

+/−
mice have led to uncertain conclusions about the potential causal role of Nf1 in pain. We used the clustered regularly interspaced short palindromic repeats (CRISPR)-associated 9 (CRISPR/Cas9) genome editing system to create and mechanistically characterize a novel rat model of NF1-related pain. Targeted intrathecal delivery of guide RNA/Cas9 nuclease plasmid in combination with a cationic polymer was used to generate allele-specific C-terminal truncation of neurofibromin, the protein encoded by the Nf1 gene. Rats with truncation of neurofibromin, showed increases in voltage-gated calcium (specifically N-type or CaV2.2) and voltage-gated sodium (particularly tetrodotoxin-sensitive) currents in dorsal root ganglion neurons. These gains-of-function resulted in increased nociceptor excitability and behavioral hyperalgesia. The cytosolic regulatory protein collapsin response mediator protein 2 (CRMP2) regulates activity of these channels, and also binds to the targeted C-terminus of neurofibromin in a tripartite complex, suggesting a possible mechanism underlying NF1 pain. Prevention of CRMP2 phosphorylation with (S)-lacosamide resulted in normalization of channel current densities, excitability, as well as of hyperalgesia following CRISPR/Cas9 truncation of neurofibromin. These studies reveal the protein partners that drive NF1 pain and suggest that CRMP2 is a key target for therapeutic intervention.
Quantification of Von Willebrand Factor Cleavage by adamts-13 in Patients Supported by Left Ventricular Assist Devices
Authors: Zhou Yong , Qin Shizhen , Hilton Tristan , Tang Li , Cruz Miguel , Hernandez Ruben , Moake Joel L. , Tian Qiang , Frazier O. H. , Dong Jing-fei , Nascimbene Angelo
Published: July 2017

Patients supported by left ventricular assist devices (LVADs) often present with the loss of large von Willebrand factor (VWF) multimers. This VWF deficiency is believed to contribute to the bleeding diathesis of patients on LVAD support and is caused by excessive VWF cleavage by the metalloprotease ADAMTS-13 under high shear stress. However, only a small percentage of patients who have suffered the loss of large VWF multimers bleed. The actual rates of VWF cleavage in these patients have not been reported, primarily because of the lack of reliable detection methods. We have developed and validated a selected reaction monitoring (SRM) mass spectrometry method to quantify VWF cleavage as the ratio of the ADAMTS-13–cleaved peptide MVTGNPASDEIK to the ILAGPAGDSNVVK peptide. The rate of VWF cleavage was found to be 1.26% ± 0.36% in normal plasma. It varied significantly in patient samples, ranging from 0.23% to 2.5% of total VWF antigen, even though all patients had the loss of large VWF multimers. Von Willebrand factor cleavage was greater in post-LVAD samples from patients in whom bleeding had developed, but was mostly reduced in patients in whom thrombosis had developed. This SRM method is reliable to quantify the rate of VWF cleavage in patients on LVAD support.
Current assessment of newborn hearing screening protocols
Authors: Ricalde Rosario R. , Chiong Charlotte M. , Labra Patrick John P.
Published: July 2017

Purpose of review

The objective of this article is to assess current newborn hearing screening protocols. We will focus on technologies or modalities used, protocol steps, training of screeners, timing of first screen, and loss to follow-up. A summary of program reports focusing on protocols from Greece, China, South Africa, France, Spain, South Korea, Denmark, Italy, Turkey, Taiwan, South Korea, Poland and Iran as they are recently reported will also be presented.

Recent findings

Community-based hearing screening programs in South Africa and efforts in the Asian region are being reported. The use of automated auditory brainstem response and staged procedures are gaining popularity because of low refer rates. However, follow-up issues remain a problem. The importance of having trained nonprofessional screeners and an efficient database is becoming more evident as the number of newborns screened for hearing loss increase each year.

There are many reported protocols using different technologies, involving several stages, implemented in different settings which should not confuse but rather guide stakeholders so that programs may attain certain benchmarks and ultimately help the hard-at-hearing child in achieving his or her full potential.
Management of acute pancreatitis in children
Authors: Abu-El-Haija Maisam , Lin Tom K. , Nathan Jaimie D.
Published: July 2017

Purpose of review

Pediatric acute pancreatitis has been on the rise in the last decades, with an incidence close to adult pancreatitis. In the majority of cases acute pancreatitis resolves spontaneously, but in a subset of children the disease progresses to severe acute pancreatitis with attendant morbidity and mortality.

Recent findings

Pediatric acute pancreatitis in this era is recognized as a separate entity from adult acute pancreatitis given that the causes and disease outcomes are different. There are slow but important advances made in understanding the best management for acute pancreatitis in children from medical, interventional, and surgical aspects.

Supportive care with fluids, pain medications, and nutrition remain the mainstay for acute pancreatitis management. For complicated or severe pancreatitis, specialized interventions may be required with endoscopic or drainage procedures. Surgery has an important but limited role in pediatric acute pancreatitis.
Risk Factors of Delayed Onset Posttraumatic Stress Disorder in Chronically Critically Ill Patients
Authors: Wintermann Gloria-Beatrice , Rosendahl Jenny , Weidner Kerstin , Strauß Bernhard , Petrowski Katja
Published: July 2017

The main aim of this study was to investigate factors associated with a delayed-onset posttraumatic stress disorder (PTSD) after the intensive care unit (ICU) treatment of patients with a chronic critical illness (CCI). Patients (n = 97) with critical illness polyneuropathy or critical illness myopathy were interviewed via the Structured Clinical Interview for Diagnostic and Statistical Manual of Mental Disorders, 4th Edition. The diagnosis of the acute stress disorder was assessed within 1 month (t1), the diagnosis of PTSD at 3 (t2) and 6 (t3) months after transfer from the acute care ICU to the post-acute ICU. Patients showing a delayed-onset or persistent course of PTSD were subsumed in one group; 24.7% (n = 24) showed a delayed-onset PTSD. Significant risk factors were as follows: the severity of the medical illness, the perceived fear of dying at the ICU, the number of traumatic memories from the ICU, and the presence of a coronary heart disease. Every fourth patient with CCI showed a delayed-onset PTSD up to 6 months after the ICU treatment. Markers for a delayed-onset PTSD should already be assessed at the time of discharge from the ICU.
Increasing Nurse Confidence in Patient Teaching Using Motivational Interviewing
Authors: Stoffers Patricia J. , Hatler Carol
Published: July 2017

This article describes a pilot study that involves nurses learning motivational interviewing techniques as a way to enhance confidence in educating patients about diabetes. The pilot study took place in the medical telemetry unit of a large teaching hospital in southwest United States. The intervention included a 2-hour session that involved didactic and role-playing components. Presurvey and postsurvey results indicated that the intervention significantly improved nurses' confidence in teaching patients (t= −7.474,p= .0001).
Nineteen Victims of Homicide and Attempted Homicide in Sweden—Their Injuries, Cause of Death, and Offender Relationship
Authors: Khoshnood Ardavan , Väfors Fritz Marie , Ekelund Ulf
Published: July 2017

Victims of homicide and attempted homicide are not uncommon in Sweden. We therefore aimed to study these victims to understand their injuries, their cause of death, and their relationship to the offender. All cases during five years in a district court in Sweden, where an offender had been convicted for homicide or attempted homicide, were identified and the court documents reviewed. Nineteen victims were identified; 14 males and five females, with an average age of 39.1 years. Although knife/sharp weapon was the most common weapon used, the use of firearm caused more deaths. Our study shows higher rates of firearm use than many other countries. The most common anatomical site to be injured by knife/sharp weapon and firearm was the thorax followed by the head. The most common cause of death was hypovolemia, followed by intracranial injuries. The high rate of firearm use shows that firearms are common modus operandi in Sweden often causing lethal injuries, if the offender intends to kill the victim. Our results support other studies showing that it is foremost injuries to the vessels, intracranial injuries, and injuries to intrathoracic organs, which causes a victim's death when assaulted with knife/sharp weapon or firearm.
Autopsy Cases of Motorcyclists Dying of Trauma or Disease
Authors: Takeda Arisa , Hitosugi Masahito , Furukawa Satoshi
Published: July 2017

We aimed to provide a better estimation of health-related motorcycle fatalities by comparing the backgrounds, mechanisms of injuries, and injury severity of victims who died of collision versus those who died of disease. We retrospectively analyzed autopsy records of 29 motorcyclists (mean age, 61.0 ± 21.0 years), none of whom had been driving under the influence of alcohol. Altogether, 22 (75.9%) had died of trauma, and 7 had died of disease. The disease-death victims were significantly older and had a significantly higher prevalence of a medical history compared with those with trauma-related death (100% vs 45.5%, P = 0.01), especially of lifestyle diseases (100% vs 13.6%, P < 0.001) and heart or cerebrovascular disease (57.1% vs 13.6%, P = 0.02). All of the victims who were affected by disease and 50% of trauma-death victims had fallen on the road without a vehicle collision (P = 0.02). Mean Injury Severity Score of the trauma-death group was significantly higher than that of the disease-death group (48.1 vs 9.1, P < 0.001). A forensic autopsy should be performed for all motorcyclist fatalities to diagnose a disease-related death during motorcycle riding. To reduce the incidence of these accidents, motorcyclists should maintain a good physical status.
Determination of Monoamine Oxidase A and B Activity in Long-Term Treated Patients With Parkinson Disease
Authors: Müller Thomas , Riederer Peter , Grünblatt Edna
Published: July 2017

Background

Biogenic amines and monoamine oxidase inhibitors influence peripheral monoamine oxidase enzyme activity in chronic levodopa/dopa decarboxylase inhibitor–treated patients with Parkinson disease. Rasagiline is an irreversible inhibitor of monoamine oxidase B. Safinamide blocks this isoenzyme in a reversible fashion.

Objectives

The aim of this study was to determine monoamine oxidase A (plasma) and B (platelets) enzyme activity in long-term levodopa-treated patients without and with additional oral intake of 50- or 100-mg safinamide or 1-mg rasagiline or first-time intake of rasagiline.

Results

Monoamine oxidase A enzyme activity did not differ between all groups. Patients on rasagiline or safinamide showed lower monoamine oxidase–B enzyme activity compared with patients without monoamine oxidase B inhibitor intake. No impact of the number of previous oral levodopa intakes was found.

Discussion

Rasagiline and safinamide did not essentially differ in terms of inhibition of monoamine oxidase B despite their different pharmacology regarding reversibility of monoamine oxidase B inhibition. In view of the observed, considerable heterogeneity of enzyme activities, we suggest to determine activities of monoamine oxidase A and B to reduce the risk for tyramine-induced hypertension and the serotonergic syndrome during chronic therapy with rasagiline or safinamide.
Insular Epilepsy: Semiology and Noninvasive Investigations
Authors: Obaid Sami , Zerouali Younes , Nguyen Dang Khoa
Published: July 2017

In this review, authors discuss the semiology and noninvasive investigations of insular epilepsy, an underrecognized type of epilepsy, which may mimic other focal epilepsies. In line with the various functions of the insula and its widespread network of connections, insular epilepsy may feature a variety of early ictal manifestations from somatosensory, visceral, olfactory, gustatory, or vestibular manifestations. Depending on propagation pathways, insular seizures may also include altered consciousness, dystonic posturing, complex motor behaviors, and even autonomic features. Considering the variability in seizure semiology, recognition of insular epilepsy may be challenging and confirmation by noninvasive tests is warranted although few studies have assessed their value. Detection of an insular lesion on MRI greatly facilitates the diagnosis. Scalp EEG findings in frontocentral and/or temporal derivations will generally allow lateralization of the seizure focus. Ictal single-photon computed tomography has moderate sensitivity, whereas positron emission tomography has lower sensitivity. Among newer techniques, magnetoencephalography is highly beneficial, whereas proton magnetic resonance spectroscopy currently has limited value.
Sinister seafood: bacteraemia secondary to non-O1/O139 Vibrio cholerae infection
Authors: Billick Maxime J. , Lam Philip W. , Bogoch Isaac I.
Published: July 2017

Introduction.
Vibrio species are curved, motile Gram-negative bacilli found in estuarine and marine environments, and are known to cause to gastroenteritis, skin and soft tissue infections, and septicaemia. While not responsible for cholera epidemics, non-O1/O139 Vibrio cholerae (NOVC) is increasingly reported as a cause of gastroenteritis.

Case presentation. A 66-year-old man presented to an emergency department with a 1 week history of epigastric pain, emesis and fever. Blood cultures drawn on admission initially demonstrated Gram-negative bacilli, and ultimately grew NOVC, which was later confirmed by matrix-assisted laser desorption ionization-time of flight MS. Subsequent history revealed that the patient had eaten fish and seafood prior to falling ill. He was treated with intravenous ceftriaxone and oral doxycycline while admitted, and oral ciprofloxacin and doxycycline upon discharge. His bacteraemia was believed to be secondary to altered gut anatomy from prior surgery and proton-pump inhibitor use.

Conclusion. Risk factors for NOVC bacteraemia include cirrhosis, immunosuppression and other forms of liver disease. Cases are often linked to a history of seafood ingestion when water temperatures rise, enabling Vibrio species to proliferate. While the optimal management of NOVC bacteraemia is unclear, a combination of a third-generation cephalosporin with a tetracycline has been suggested. Physicians should maintain a high index of suspicion for this pathogen when evaluating ill patients with a history of liver disease and seafood ingestion.
Quartz-Seq2: a high-throughput single-cell RNA-sequencing method that effectively uses limited sequence reads
Authors: Sasagawa Yohei , Danno Hiroki , Takada Hitomi , Ebisawa Masashi , Tanaka Kaori , Hayashi Tetsutaro , Kurisaki Akira , Nikaido Itoshi
Published: July 2017

High-throughput single-cell RNA-seq methods assign limited unique molecular identifier (UMI) counts as gene expression values to single cells from shallow sequence reads and detect limited gene counts. We thus developed a high-throughput single-cell RNA-seq method, Quartz-Seq2, to overcome these issues. Our improvements in the reaction steps make it possible to effectively convert initial reads to UMI counts (at a rate of 30%–50%) and detect more genes. To demonstrate the power of Quartz-Seq2, we analyzed approximately 10,000 transcriptomes in total fromin vitroembryonic stem cells and anin vivostromal vascular fraction with a limited number of reads.
Efficient strategies for screening large-scale genetic interaction networks
Authors: Deshpande Raamesh , Nelson Justin , Simpkins Scott W. , Costanzo Michael , Piotrowski Jeff S. , Li Sheena C. , Boone Charlie , Myers Chad L.
Published: July 2017

Large-scale genetic interaction screening is a powerful approach for unbiased characterization of gene function and understanding systems-level cellular organization. While genome-wide screens are desirable as they provide the most comprehensive interaction profiles, they are resource and time-intensive and sometimes infeasible, depending on the species and experimental platform. For these scenarios, optimal methods for more efficient screening while still producing the maximal amount of information from the resulting profiles are of interest.

To address this problem, we developed an optimal algorithm, called COMPRESS-GI, which selects a small but informative set of genes that captures most of the functional information contained within genome-wide genetic interaction profiles. The utility of this algorithm is demonstrated through an application of the approach to define a diagnostic mutant set for large-scale chemical genetic screens, where more than 13,000 compound screens were achieved through the increased throughput enabled by the approach. COMPRESS-GI can be broadly applied for directing genetic interaction screens in other contexts, including in species with little or no prior genetic-interaction data.
Gene family information facilitates variant interpretation and identification of disease-associated genes
Authors: Lal Dennis , May Patrick , Samocha Kaitlin E. , Kosmicki Jack A. , Robinson Elise B. , Møller Rikke S. , Krause Roland , Nüernberg Peter , Weckhuysen Sarah , De Jonghe Peter , Guerrini Renzo , Neupert Lisa M. , Du Juliana , Perez-Palma Eduardo , Marini Carla ,   EuroEpinomics-RES Consortium, Ware James S. , Kurki Mitja , Gormley Padhraig , Tang Sha , Wu Sitao , Biskup Saskia , Poduri Annapura , Neubauer Bernd A. , Koeleman Bobby P. , Helbig Katherine L. , Weber Yvonne G. , Helbig Ingo , Majithia Amit R. , Palotie Aarno , Daly Mark J.
Published: July 2017

Differentiating risk-conferring from benign missense variants, and therefore optimal calculation of gene-variant burden, represent a major challenge in particular for rare and genetic heterogeneous disorders. While orthologous gene conservation is commonly employed in variant annotation, approximately 80% of known disease-associated genes are paralogs and belong to gene families. It has not been thoroughly investigated how gene family information can be utilized for disease gene discovery and variant interpretation. We developed a paralog conservation score to empirically evaluate whether paralog conserved or nonconserved sites of in-human paralogs are important for protein function. Using this score, we demonstrate that disease-associated missense variants are significantly enriched at paralog conserved sites across all disease groups and disease inheritance models tested. Next, we assessed whether gene family information could assist in discovering novel disease-associated genes. We subsequently developed a gene familyde novoenrichment framework that identified 43 exome-wide enriched gene families including 98de novovariant carrying genes in more than 10k neurodevelopmental disorder patients. 33 gene family enriched genes represent novel candidate genes which are brain expressed and variant constrained in neurodevelopmental disorders.
Nuclear androgen receptor regulates testes organization and oocyte maturation in zebrafish
Authors: Crowder Camerron M. , Lassiter Christopher S. , Gorelick Daniel A.
Published: July 2017

Androgens act through the nuclear androgen receptor (AR) to regulate gonad differentiation and development. In mice, AR is required for spermatogenesis, testis development and formation of external genitalia in males and oocyte maturation in females. However, the extent to which these phenotypes are conserved in nonmammalian vertebrates is not well understood, because mutations in AR have not been generated in any other species. Here, we generate zebrafish with a mutation in theargene and examine the role of AR on sexual differentiation and gonad development. We find that zebrafish AR is not required for male sexual differentiation, since a portion ofarmutants develop a testis. However, we show that in zebrafish, as in mice, AR is required for the development of secondary sexual characteristics and for proper organization of the testis in males and for oocyte maturation in females. Additionally, we find that zebrafisharmutant males have functional, mature sperm present in their testis, but are infertile due to an inability to release sperm. These findings suggest that AR is required for male sexual development and fertility, but not essential for sexual differentiation in zebrafish. Thearmutant we developed will be useful for modeling human endocrine function in zebrafish.
Hyppo-X: A Scalable Exploratory Framework for Analyzing Complex Phenomics Data
Authors: Kamruzzaman Methun , Kalyanaraman Ananth , Krishnamoorthy Bala , Hey Stefan , Schnable Patrick S.
Published: July 2017

Phenomics is an emerging branch of modern biology that uses high throughput phenotyping tools to capture multiple environmental and phenotypic traits, often at massive spatial and temporal scales. The resulting high dimensional data represent a treasure trove of information for providing an in-depth understanding of how multiple factors interact and contribute to the overall growth and behavior of different genotypes. However, computational tools that can parse through such complex data and aid in extracting plausible hypotheses are currently lacking. In this paper, we presentHyppo-X, a new algorithmic approach to visually explore complex phenomics data and in the process characterize the role of environment on phenotypic traits. We model the problem as one of unsupervised structure discovery, and use emerging principles from algebraic topology and graph theory for discovering higher-order structures of complex phenomics data. We present an open source software which has interactive visualization capabilities to facilitate data navigation and hypothesis formulation. We test and evaluateHyppo-Xon two real-world plant (maize) data sets. Our results demonstrate the ability of our approach to delineate divergent subpopulation-level behavior. Notably, our approach shows how environmental factors could influence phenotypic behavior, and how that effect varies across different genotypes and different time scales. To the best of our knowledge, this effort provides one of the first approaches to systematically formalize the problem of hypothesis extraction for phenomics data. Considering the infancy of the phenomics field, tools that help users explore complex data and extract plausible hypotheses in a data-guided manner will be critical to future advancements in the use of such data.
2,2′-[(Disulfanediyl)bis{5-[(1E)-(2-hydroxybenzylidene)amino]-1,3-thiazole-4,2-diyl}]diphenol: synthesis, crystal structure and calculation of molecular hyperpolarizability
Authors: Zarei Seyed Amir , Piltan Mohammad , Mashhun Asmar , Rudbari Hadi Amiri , Bruno Giuseppe
Published: July 2017

The title Schiff base compound {systematic name: 2-[5-[(E)-(2-hydroxybenzylidene)amino]-4-(2-{5-[(E)-(2-hydroxybenzylidene)amino]-2-(2-hydroxyphenyl)-1,3-thiazol-4-yl}disulfanyl)-1,3-thiazol-2-yl]phenol}, C32H22N4O4S4, incorporating a disulfanediyl (dithio) linkage, was obtained from the condensation reaction between two equivalents of salicylaldehyde and one equivalent of dithiooxamide in dimethylformamide, and was characterized by elemental analysis, IR spectroscopic analysis and single-crystal X-ray diffraction. A one-dimensional chain is formed along thebaxisviadouble intermolecular C—H...S hydrogen bonds. The HOMO (highest occupied molecular orbital) and LUMO (lowest unoccupied molecular orbital) energies and some related molecular parameters were calculated at the B3LYP/6-311G(d,p) level of theory. The molecular hyperpolarizability was also calculated.
Numerical simulation of serial launch process of multiple projectiles considering the aftereffect period
Authors: Luo Qiao , Zhang Xiaobing
Published: July 2017

Purpose

The numerical simulation of the serial launch process of multiple projectiles is an important engineering problem. However, the projectiles’ motion law is hard to obtain completely only by interior ballistic model. The muzzle flow field affects the projectiles’ velocities when the projectiles pass through it. Also, the propellant gas from previous projectiles may decelerate the later projectiles. Therefore, the aftereffect period should be simulated together with the interior ballistic process of multiple projectiles when researching the serial launch process for accurate motion law of the projectiles.

Design/methodology/approach

The computational fluid dynamics (CFD) software is used to simulate the muzzle flow field. A one-dimensional two-phase reaction flow model is implemented in a computational code for the numerical simulation of gas-solid two-phase reaction flow, during the serial launch process. The computational code is coupled with CFD software by a user-defined function.

Findings

Compared with the first projectile, the formation process of the shock bottle of the second projectile is different. After the projectile head flies out of the muzzle, the projectile head pressure decreases rapidly, but then, it is not always equal to 0.1 MPa. After the projectiles leave the muzzle, the velocity increments of each projectile are mainly determined by muzzle pressure.

Originality/value

This paper presents a prediction tool to understand the projectiles’ motion law during the serial launch process of the multiple projectiles considering aftereffect period, and can be used as a research tool for future ballistic studies of a serial launch system of multiple projectiles.
Numerical study on the effects of variable properties and nanoparticle diameter on nanofluid flow and heat transfer through micro-annulus
Authors: Heydari Morteza , Shokouhmand Hossein
Published: July 2017

Purpose

The purpose of this paper is to evaluate differences between the results of constant property and variable property approaches in solving the problem of Al2O3-water nanofluid heat transfer in an annular microchannel. Also, the effect of nanoparticle diameter on flow and heat transfer characteristics is investigated.

Design/methodology/approach

Thermo-physical properties of the nanofluid including density, specific heat, viscosity and thermal conductivity are assumed to be temperature dependent. Governing equations are descritized using the finite volume method and solved by SIMPLE algorithm.

Findings

The results reveal that the constant property assumption is unable to predict the correct trend of variations along the microchannel for some of the characteristics, especially when the range of temperature change near the wall is considerable. In the fully developed region, constant property solution overestimates the values of shear stress near the walls of the microchannel. In addition, the values of Nusselt numbers are different for the two solutions. Furthermore, a decrease in wall’s shear stress has been observed as a result of increasing nanoparticle size.

Originality/value

This paper reflects that how the friction factor and heat transfer vary along the microchannel in temperature dependent modeling, which is not reflected in the results of constant property approach. To the best of the authors’ knowledge, there is no similar investigation of the effect of nanofluid variable properties with Pr=5 or in annular geometry.
Solutions of the Blasius and MHD Falkner-Skan boundary-layer equations by modified rational Bernoulli functions
Authors: Calvert Velinda , Razzaghi Mohsen
Published: July 2017

Purpose

This paper aims to propose a new numerical method for the solution of the Blasius and magnetohydrodynamic (MHD) Falkner-Skan boundary-layer equations. The Blasius and MHD Falkner-Skan equations are third-order nonlinear boundary value problems on the semi-infinite domain.

Design/methodology/approach

The approach is based upon modified rational Bernoulli functions. The operational matrices of derivative and product of modified rational Bernoulli functions are presented. These matrices together with the collocation method are then utilized to reduce the solution of the Blasius and MHD Falkner-Skan boundary-layer equations to the solution of a system of algebraic equations.

Findings

The method is computationally very attractive and gives very accurate results.

Originality/value

Many problems in science and engineering are set in unbounded domains. One approach to solve these problems is based on rational functions. In this work, a new rational function is used to find solutions of the Blasius and MHD Falkner-Skan boundary-layer equations.
A parallel partition of unity method for the nonstationary Navier-Stokes equations
Authors: Du Guangzhi , Zuo Liyun
Published: July 2017

Purpose

The purpose of this paper is to propose a parallel partition of unity method (PPUM) to solve the nonstationary Navier-Stokes equations.

Design/methodology/approach

This paper opted for the nonstationary Navier-Stokes equations by using the finite element method and the partition of unity method.

Findings

This paper provides one efficient parallel algorithm which reaches the same accuracy as the standard Galerkin method but saves a lot of computational time.

Originality/value

In this paper, a PPUM is proposed for nonstationary Navier-Stokes. At each time step, the authors only need to solve a series of independent local sub-problems in parallel instead of one global problem.
Unsteady natural convection in a cubical cavity with a triangular heat source
Authors: Gibanov Nikita , Sheremet Mikhail
Published: July 2017

Purpose

The purpose of this paper is to study natural convective fluid flow and heat transfer inside a cubical cavity having a local heat source of constant temperature.

Design/methodology/approach

The cubical cavity is cooled from two vertical opposite walls and heated from the local heater mounted on the bottom wall, while the rest walls are adiabatic. The governing equations formulated in dimensionless vector potential functions and vorticity vector have been solved using implicit finite difference method of the second-order accuracy. The effects of the Rayleigh number (Ra = 1e+04 – 1e+06), heat source position (l/L = 0.05 – 0.35) and dimensionless time (0 < tau < 100) on velocity and temperature fields, streamlines, isotherms and average Nusselt number at the heat source surface have been analyzed.

Findings

It is found that the extreme left position of the heater (l/L = 0.05) illustrates more essential cooling of the cavity where the thermal plume over the heat source is suppressed by low temperature waves from the cold vertical walls.

Originality/value

The originality of this work is to analyze transient 3D natural convection in a cubical cavity with a heater of triangular shape and compare obtained 3D data with 2D results. It should be noted that for numerical simulation, the authors used vector potential function and vorticity vector that for transient problems allows to reduce the computational time. The results would benefit scientists and engineers to become familiar with the analysis of transient convective heat and mass transfer in 3D domains with local heaters, and the way to predict the properties of convective flow in advanced technical systems, in industrial sectors including transportation, power generation, chemical sectors, ventilation, air-conditioning, etc.
The development of accounting education and practice in an environment of socio-economic transformation in the Middle East
Authors: Alsharari Nizar Mohammad
Published: July 2017

Purpose

The purpose of this paper is to explore the development of accounting education and practice as influenced by the socio-economic transformation in Jordan.

Design/methodology/approach

The paper presents an explanatory study of how accounting education and practice has developed in relation to socio-economic change in Jordan, using the institutional economic theory-based constructivist approach, in which knowledge is constructed by compiling data from different sources, including historical and statistical analyses, documents, and archival records.

Findings

The study finds that accounting education in Jordan cannot be effectively studied without reference to how accounting practice affects, and is affected by the social, economic, political and cultural dimensions of its operating environment. The study finds that accounting change has been driven by the Jordanian Government’s response to the macroeconomic challenges that had historically restricted economic growth, including the scarcity of natural resources, budget deficits, soaring debt, and structural unemployment. The ongoing program of privatization has been a significant contributor to economic, accounting, and legal change. Since accountancy is accepted as a social practice, culture plays a significant role in accounting research, and cultural factors bearing on accounting education and practice in Jordan include the historical imposition of western accounting paradigms in developing countries, Jordan’s cultural values, the quality of its education system, and the disparity between the private sector’s and public management’s embrace of technology and applications for management accounting. The study finds that accounting education in Jordan cannot be effectively studied without reference to how accounting affects, and is affected by the social, economic, political and cultural dimensions of its operating environment.

Research limitations/implications

This paper describes the development of accounting education in an environment of socio-economic change, which has potential implications for accounting practitioners, academics, and policy makers in developing countries. The study’s constructivist approach selected with the aim of constructing a picture of the change environment, and thus, present new knowledge in a compilation of data limits, however, the generalizability of the findings.

Originality/value

The paper is a one of very few research studies in the accounting literature to present evidence from the Middle East of how accounting education and practice has developed in response to socio-economic transformation, and has itself contributed to socio-economic growth in Jordan. The significance of cultural factors in these developments provides further understanding of the dynamics of developing accounting education and practice in the era of globalization.
Human capital challenges in the events industry of Canada: finding innovative solutions
Authors: Clark Heather , Dimanche Frederic , Cotter Rebecca , Lee-Rosen Donna
Published: July 2017

Purpose

This paper aims to provide perspectives on human capital challenges for the events industry in Canada. Industry and educator perspectives are featured in two segments of the paper.

Design/methodology/approach

This paper provides an overview of the events sector in Canada and includes a literature review clarifying key definitions and terms. Industry and educator perspectives highlight ongoing discussions related to some of the human capital challenges identified in the paper.

Findings

This paper explores challenges related to human capital such as the pressures of working in the events industry and finding a work – life balance given the demands of the profession. Human capital challenges related to the preparedness of professionals and the need for continued certification and training are also discussed. A potential solution considers licensing and industry-wide certification. Consideration of the benefits and requirements of industry-wide certification and licensing is ongoing.

Practical implications

This paper emphasizes the need for cooperation between industry and educators to ensure that new events professionals have the necessary skills training and can recognize the need to contribute to the events industry throughout their careers.

Originality/value

This paper considers perspectives from education and industry and emphasizes challenges that are relevant and current for existing and future events professionals in Canada.
The hospitality and tourism industry in Canada: innovative solutions for the future
Authors: Jayawardena Chandana (Chandi)
Published: July 2017

Purpose

This paper aims to provide practical solutions to the strategic question: “The hospitality and tourism industry in Canada: what are the main challenges and solutions?”. It aims to capture the essence of scholarly contributions made by 25 Canadian experts and provide a conclusion to the Worldwide Hospitality Themes (WHATT) theme issue (v.9, n.4) dedicated to Canada.

Design/methodology/approach

The paper draws from key concepts, suggestions and solutions written by 25 Canadian authors in the previous papers of this theme issue. It is worth noting that these authors together have more than 700 years of experience in managing, operating and teaching all aspects of the tourism and hospitality industry. The paper presents nine summaries in the following order: the state of the industry (introductory article); finding innovative solutions for HR challenges (four articles); and new trends and innovation (four articles)

Findings

In conclusion, 20 recommendations relating to human capital enhancement, as well as general suggestions, are made to embrace useful trends and innovative thinking for future progress in Canada’s hospitality and tourism industry.

Practical implications

As this paper is a combination of many perspectives from nine co-authored articles, there is no single focus to draw common conclusions. For further information and analysis, it is recommended that the relevant articles from this theme issue be reviewed.

Originality/value

Readers interested in the Canadian hospitality and tourism industry will find this paper to be of interest.
Pollination system of Corylopsis gotoana (Hamamelidaceae) and its stonefly (Plecoptera) co‐pollinator
Authors: Wong Sato Akira A. , Kato Makoto
Published: July 2017

The order Plecoptera is primarily known for its aquatic nymphs and their importance in many stream ecosystems. However, the biology and life history of Plecopteran terrestrial adults is mostly unknown, and hence interactions with plants have rarely been documented. Here, we report on insect visitation to flowers of Corylopsis gotoana (Hamamelidaceae) in a temperate forest of Japan, with emphasis on the behavior and pollination role of adults of a stonefly species, Strophopteryx nohirae (Taeniopterygidae), which were frequently observed in the flowers. The most frequent insect visitors to Corylopsis flowers were Bombylius major (Bombyliidae), Apis cerana (Apidae) and Bombus ardens (Apidae), all of which were considered main pollinators because of high rates of visitation and pollen attachment. Strophopteryx nohirae frequently visited Corylopsis trees, on which they foraged for pollen and mated. A field experiment on the pollination success of Corylopsis flowers visited by S. nohirae verified that this stonefly contributed to pollination.