bluuebunny/crossref_metadata_2025_split huggingface dataset:
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

Abstract
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

Abstract
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.
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.

Summary
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.

Summary
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

Abstract
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.
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

Abstract
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

Abstract
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

Summary:
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.
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

AbstractHigh-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

AbstractDifferentiating 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

ABSTRACTAndrogens 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.