bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genotype-Phenotype Associations of APC Mutations With Pouch Adenoma in Patients With Familial Adenomatous Polyposis
Authors: Kariv Revital , Rosner Guy , Fliss-Isakov Naomi , Gluck Nathan , Goldstein Adam , Tulchinsky Hagit , Zelber-Sagi Shira 
Published: November 2017

Background:
Patients with familial adenomatous polyposis (FAP) may carry various adenomatous polyposis coli (APC) mutations. However, genotype-phenotype correlation for APC mutations is still debated and is yet to be evaluated with regard to pouch polyp formation.

Objective:
To evaluate the association between APC mutation type and exon location and the outcome of pouch adenoma.

Design Setting and Patients:
Forty-five FAP patients with defined pathogenic APC mutations, who underwent total proctocolectomy and ileal pouch anal anastomosis were classified by mutation type and location. Analysis was conducted for clinical and endoscopic parameters.

Results:
Twenty patients had either indel/deletion mutations and 25 had nonsense/missense mutations. The indel/deletion group was associated with higher prevalence of preoperative hundreds of colonic adenomas (66.7% vs. 30%; P=0.030), lower rates of stapled versus sewn anastomosis (46.7% vs. 76%; P=0.060), of single stage surgery (13.3% vs. 44%; P=0.045) and with higher pouch adenoma formation rate (50% vs. 8%; P=0.002). Twenty-seven were carriers of exons 1 to 14 mutations and 18 were carriers of exon 15 mutations. Carriers of exon 15 mutations had higher prevalence of preoperative hundreds of colonic adenomas (55.6% vs. 22.2%; P=0.003) and a higher tendency for pouch and cuff adenoma formation rate. Adjusted odds ratio for pouch adenoma formation was 8.32 (1.42-48.80; P=0.019) for the indel/deletion group versus nonsense/missense, but no significant independent association was noted with mutation location. The mean number of pouch and cuff adenoma formation (per endoscopy) was higher among carriers of exon 15 mutations, but no significant independent association was noted the with mutation type.

Conclusions:
Type and location of APC mutation are associated with colonic polyp burden, surgical outcome and likelihood of developing pouch adenomas. These findings may contribute to surgical and endoscopic surveillance decisions for FAP patients.
Short article: The endoscopic and histologic findings of infants who have experienced brief resolved unexplained events
Authors: Jarasvaraparn Chaowapong , Gallegos Maria B.R. , Mulekar Madhuri S. , Bin Wang  , Gremse David A. , Crissinger Karen D. 
Published: November 2017

IntroductionA brief resolved unexplained event (BRUE) describes an event associated with a change in muscle tone, color, respiration, and responsiveness that is unexplained after an appropriate examination. Some infants with higher risk BRUE may undergo endoscopy as part of their evaluation.ObjectiveThis retrospective study aimed to identify the endoscopic findings in infants who have experienced a higher risk BRUE. We also compared the characteristics, prenatal, natal, and postnatal risk factors between 23 infants who underwent endoscopic evaluation and 23 race-matched/sex-matched/term-matched/preterm-matched infants who did not undergo endoscopic evaluation.MethodsThis was a retrospective descriptive study. Infants were identified from a query of medical records using the ICD-10 code for BRUE (R68.13).ResultsOf 119 infants with BRUE, 23 infants with higher risk BRUE underwent an esophagogastroduodenoscopy and flexible sigmoidoscopy. Apnea (87%) was the most common presentation of BRUE. Most were female (57%) with a mean age at BRUE presentation of 2.73 months. We found 10 (43.5%) term infants and 13 (56.5%) preterm infants in our study. There were no significant differences in characteristics, prenatal, natal, and postnatal risk factors between the infants who underwent endoscopy and those who did not undergo endoscopy. The most common abnormal endoscopic finding was lymphonodular hyperplasia (LNH) associated with eosinophilia in the rectosigmoid colon. The proportion of females in the LNH group was significantly higher than the non-LNH group.ConclusionRectosigmoid LNH and eosinophilia, which are associated with milk soy protein intolerance (MSPI), were the most common findings on endoscopic evaluation. Although there is no proof of causation between MSPI and BRUE, MSPI should be considered in the differential diagnosis for higher risk BRUE.
Diagnosis and Management of Pediatric Autoimmune Liver Disease
Authors: Mieli‐Vergani Giorgina , Vergani Diego , Baumann Ulrich , Czubkowski Piotr , Debray Dominique , Dezsofi Antal , Fischler Björn , Gupte Girish , Hierro Loreto , Indolfi Giuseppe , Jahnel Jörg , Smets Françoise , Verkade Henkjan J. , Hadžić Nedim 
Published: November 2017

ABSTRACTPaediatric autoimmune liver disease is characterized by inflammatory liver histology, circulating autoantibodies, and increased levels of IgG, in the absence of a known etiology. Three conditions have a likely autoimmune pathogenesis: autoimmune hepatitis (AIH), autoimmune sclerosing cholangitis, and de novo AIH after liver transplantation. Two types of pediatric AIH are recognized according to seropositivity for smooth muscle and/or antinuclear antibody (AIH‐1) or liver kidney microsomal type 1 and/or anti‐liver cytosol type 1 antibodies (AIH‐2).Pertinent issues addressing the diagnosis, treatment, and long‐term follow‐up were formulated by a core group of ESPGHAN members. They have commissioned the first authors with execution of this project. Initially, they have performed a systematic literature search on MEDLINE, ResearchGate, and Mendeley databases during the last 30 years and produced a document focusing on prospective and retrospective studies in children. The ESPGHAN core group and ESPGHAN Hepatology Committee members voted on each recommendation, using a formal voting technique.
Feed‐related Splanchnic Oxygenation in Preterm Infants With Abnormal Antenatal Doppler Developing Gut Complications
Authors: Martini Silvia , Aceti Arianna , Beghetti Isadora , Faldella Giacomo , Corvaglia Luigi 
Published: November 2017

ABSTRACTPreterm infants with antenatal absent or reversed end diastolic flow (AREDF) in umbilical arteries are at major risk for gastrointestinal (GI) complications, such as necrotizing enterocolitis, intestinal perforation and feeding intolerance. Near‐infrared spectroscopy provides continuous monitoring of splanchnic oxygenation (SrSO2) and may represent a useful tool to predict GI outcomes in this high‐risk population. This observational, pilot study assessed feed‐related SrSO2 patterns at enteral feeding introduction and full enteral feeding (FEF) achievement in twenty AREDF infants with gestational age ⩽34 weeks. Enrolled infants were divided into 2 groups according to the development versus lack of GI complications. Infants developing GI complications showed significantly lower SrSO2 and increased splanchnic oxygen extraction in response to enteral feeds at both enteral feeding introduction and FEF. The potential role of these findings in predicting GI complications in AREDF preterm infants seems promising and deserves further evaluation.
The Stigma of Mental Illness as a Barrier to Self Labeling as Having a Mental Illness
Authors: Stolzenburg Susanne , Freitag Simone , Evans-Lacko Sara , Muehlan Holger , Schmidt Silke , Schomerus Georg 
Published: November 2017

Abstract
The aim of this study was to investigate whether personal stigma decreases self-identification as having a mental illness in individuals with untreated mental health problems. We interviewed 207 persons with a currently untreated mental health problem as confirmed by a structured diagnostic interview. Measures included symptom appraisal, self-identification as having a mental illness (SELFI), self-labeling (open-ended question on the nature of their problem) stigma-related variables (explicit and implicit), as well as sociodemographics, current symptom severity, and previous treatment. Support for discrimination and implicit stigmatizing attitude were both associated with lower likelihood of self-identification. More social distance and support for discrimination were associated with less self-labeling. Previous treatment was the strongest predictor of symptom appraisal, SELFI, and self-labeling. Destigmatizing mental illness could increase awareness of personal mental health problems, potentially leading to lower rates of untreated mental illness.
Chemsex Among Men Who Have Sex With Men: a Sexualized Drug Use Survey Among Clients of the Sexually Transmitted Infection Outpatient Clinic and Users of a Gay Dating App in Amsterdam, the Netherlands
Authors: Drückler Susanne , van Rooijen Martijn S. , de Vries Henry J.C. 
Published: November 2017

Objectives
Chemsex (i.e., drug use during sex) is practiced by some men who have sex with men (MSM) and is associated with high-risk behavior. In a cross-sectional study at the sexually transmitted infection (STI) clinic of Amsterdam, we explored chemsex practices, risk behavior, and STI prevalence.

Method
A survey on chemsex (γ-hydroxybutyrate, crystal methamphetamine, and/or mephedrone) was offered to clinic clients during routine STI screening and to Amsterdam users of a gay online dating app. Associations were assed using χ
2 test and multivariable regression.

Results
Chemsex in the past 6 months was practiced by 866 (17.6%) of 4925 MSM clients and by 159 (1.5%) of 10857 non-MSM clients. Among gay dating app users, the proportion that reported chemsex engagement was higher than among MSM visiting the STI clinic (29.3% [537/1832] vs. 17.6%; P < 0.001). Chemsex was a significant risk factor for bacterial STI in HIV-negative MSM visiting the STI clinic (adjusted odd ratio, 1.5; 95% confidence interval, 1.2–1.8), but not in HIV-positive MSM. A majority practiced chemsex once a month or less, and 87.0% reported sex without drug use in the past month.

Conclusions
In Amsterdam, chemsex is frequently practiced and significantly associated with bacterial STI in HIV-negative MSM but not in HIV-positive MSM. Future prevention strategies to reduce STI incidence should especially target HIV-negative MSM engaging in chemsex.
A Stinging Suspicion Something Was Just Not Right
Authors: Pariury Holly E. , Steiniger Aimee M. , Lowe Merlin C. 
Published: November 2017

Abstract
The sting from Centuroides sculpturatus, commonly known as the bark scorpion, is a serious medical problem and can be potentially fatal to young children. Centuroides sculpturatus envenomation can cause a wide spectrum of symptoms, often including autonomic dysfunction, cranial nerve abnormalities, and somatic motor abnormalities. We discuss a 6-month-old male infant who presented with signs and symptoms consistent with bark scorpion envenomation, later found to be secondary to methamphetamine toxicity. Emergency pediatricians should be aware of the strong similarities between scorpion envenomation and methamphetamine toxicity in pediatric patients residing in or having visited the southwestern region of the United States. Methamphetamine toxicity should be considered in their differential diagnosis.
Management of the Febrile Young Infant
Authors: Woll Christopher , Neuman Mark I. , Aronson Paul L. 
Published: November 2017

Abstract
Infants aged 90 days or younger with fever are frequently evaluated in the pediatric emergency department. Physical examination findings and individual laboratory investigations are not reliable to differentiate benign viral infections from serious bacterial infections in febrile infants. Clinical prediction models were developed more than 25 years ago and have high sensitivity but relatively low specificity to identify bacterial infections in febrile infants. Newer laboratory investigations such as C-reactive protein and procalcitonin have favorable test characteristics compared with traditional laboratory studies such as a white blood cell count. These novel biomarkers have not gained widespread acceptance because of lack of robust prospectively collected data, varying thresholds to define positivity, and differing inclusion criteria across studies. However, C-reactive protein and procalcitonin, when combined with other patient characteristics in the step-by-step approach, have a high sensitivity for detection of serious bacterial infection. The RNA biosignatures are a novel biomarker under investigation for detection of bacterial infection in febrile infants.
The Value of Decision Analytical Modeling in Surgical Research
Authors: Tax Casper , Govaert Paulien H. M. , Stommel Martijn W. J. , Besselink Marc G. H. , Gooszen Hein G. , Rovers Maroeska M. 
Published: November 2017

Objective:
To illustrate how decision modeling may identify relevant uncertainty and can preclude or identify areas of future research in surgery.

Summary Background Data:
To optimize use of research resources, a tool is needed that assists in identifying relevant uncertainties and the added value of reducing these uncertainties.

Methods:
The clinical pathway for laparoscopic distal pancreatectomy (LDP) versus open (ODP) for nonmalignant lesions was modeled in a decision tree. Cost-effectiveness based on complications, hospital stay, costs, quality of life, and survival was analyzed. The effect of existing uncertainty on the cost-effectiveness was addressed, as well as the expected value of eliminating uncertainties.

Results:
Based on 29 nonrandomized studies (3.701 patients) the model shows that LDP is more cost-effective compared with ODP. Scenarios in which LDP does not outperform ODP for cost-effectiveness seem unrealistic, e.g., a 30-day mortality rate of 1.79 times higher after LDP as compared with ODP, conversion in 62.2%, surgically repair of incisional hernias in 21% after LDP, or an average 2.3 days longer hospital stay after LDP than after ODP. Taking all uncertainty into account, LDP remained more cost-effective. Minimizing these uncertainties did not change the outcome.

Conclusions:
The results show how decision analytical modeling can help to identify relevant uncertainty and guide decisions for future research in surgery. Based on the current available evidence, a randomized clinical trial on complications, hospital stay, costs, quality of life, and survival is highly unlikely to change the conclusion that LDP is more cost-effective than ODP.
Modeling the temporal dynamics of the gut microbial community in adults and infants
Authors: Shenhav Liat , Furman Ori , Briscoe Leah , Thompson Michael , Mizrahi Itzhak , Halperin Eran 
Published: November 2017

AbstractGiven the highly dynamic and complex nature of the human gut microbial community, the ability to identify and predict time-dependent compositional patterns of microbes is crucial to our understanding of the structure and function of this ecosystem. One factor that could affect such time-dependent patterns is microbial interactions, wherein community composition at a given time point affects the microbial composition at a later time point. However, the field has not yet settled on the degree of this effect. Specifically, it has been recently suggested that only a minority of the operational taxonomic units (OTUs) depend on the microbial composition in earlier times. To address the issue of identifying and predicting temporal microbial patterns we developed a new model, MTV-LMM (Microbial Temporal Variability Linear Mixed Model), a linear mixed model for the prediction of the microbial community temporal dynamics based on the community composition at previous time stamps. MTV-LMM can identify time-dependent microbes in time series datasets, which can then be used to analyze the trajectory of the microbiome over time. We evaluated the performance of MTV-LMM on three human microbiome time series datasets, and found that MTV-LMM significantly outperforms all existing methods for microbiome time series modeling. Particularly, we demonstrate that the effect of the microbial composition in previous time points on the abundance levels of an OTU at a later time point is underestimated by a factor of at least 10 when applying previous approaches. Using MTV-LMM, we demonstrate that a considerable proportion of the human gut microbiome, both in infants and adults, has a significant time-dependent component that can be predicted based on microbiome composition in earlier time points. This suggests that microbiome composition at a given time point is a major factor in defining future microbiome composition and that this phenomenon is considerably more common than previously reported for the human gut microbiome.
Population receptive field tuning properties of visual cortex during childhood
Authors: Dekker T. M. , Schwarzkopf D.S. , de Haas B. , Nardini M. , Sereno M.I. 
Published: November 2017

AbstractImprovements in visuospatial perception such as contrast sensitivity and Vernier acuity continue until late in childhood, but the neural mechanisms driving these age-related changes are currently unclear. One contributing factor could be the protracted development of spatial tuning of neuronal populations across the visual cortex. Here we tested this possibility using population receptive field (pRF) mapping (Dumoulin and Wandell, 2008) in 6-to 12-year-old children and adults. We fitted pRF models to BOLD signals measured in areas V1-V4 and V3a during fMRI whilst participants watched wedge and ring stimuli traversing the visual field. Cortical magnification and the width of pRF tuning functions changed with viewing eccentricity in all participants. However, there were no age-related changes in pRF size, shape, cortical magnification, or map consistency across any of the visual areas measured. These results suggest that visuospatial perception in late childhood beyond age 6 years is not substantially limited by low-level spatial tuning properties of neuronal populations in visual cortex. Instead, performance improvements in this period may reflect more efficient use of the spatial information available in the visual system when forming perceptual judgments. These findings are an important step towards disentangling which neural mechanisms contribute to the eventual emergence of mature spatial vision, and for understanding the processes that determine the scope for visual plasticity at different stages of life.
Global State Changes Induce Non-reciprocal Reduction of Mutual Information in the Thalamocortical Network
Authors: Verner Ryan , Banks Matthew , Bartlett Edward 
Published: November 2017

AbstractUnderstanding the neural mechanisms of loss and recovery of consciousness remains an active area of scientific and clinical interest. Recent models and theories of consciousness implicate thalamus or neocortex as the dominant regions that control global state change, but experimentally testing these theories requires parsing the response properties of the complex thalamocortical network. In this work, we explore information processing using chronic recordings of multiunit activity between thalamus and cortex by targeting either the corticothalamic or thalamocortical pathway with direct electrical stimulation under subhypnotic and just-hypnotic states of isoflurane or dexmedetomidine induced unconsciousness. We found that mutual information between the stimulus and response in the corticothalamic circuit decreases with loss of consciousness, and that the change is not reciprocated in the thalamocortical direction. These changes in mutual information were moderately correlated with changes in evoked rate, and a strong effect of isoflurane on spontaneous and evoked rate accounts for a large portion of the change in mutual information. Further, we found cortical synchrony to increase under sub-and just-hypnotic doses of dexmedetomidine and isoflurane, suggesting cortical responses become more causally dependent on thalamocortical input at reduced levels of consciousness, or unconsciousness. We believe these changes suggest loss of consciousness is associated with a decrease in the number of available cortical network states, and may suggest cognitive unbinding from ascending sensory input.
The Fission Yeast S-Phase Cyclin Cig2 Can Drive Mitosis
Authors: Magner Mira , Pickering Mary , Keifenheim Dan , Rhind Nicholas 
Published: November 2017

AbstractCommitment to mitosis is regulated by cyclin-dependent kinase (CDK) activity. In the fission yeastSchizosaccharomyces pombe, the major B-type cyclin, Cdc13, is necessary and sufficient to drive mitotic entry. Furthermore, Cdc13 is also sufficient to drive S phase, demonstrating that a single cyclin can regulate alternating rounds of replication and mitosis and providing the foundation of the quantitative model of CDK function. It has been assumed that Cig2, a B-type cyclin expressed only during S-phase and incapable of driving mitosis in wild-type cells, was specialized for S-phase regulation. Here, we show that Cig2 is capable of driving mitosis. Cig2/CDK activity drives mitotic catastrophe—lethal mitosis in inviably small cells—in cells that lack CDK inhibition by tyrosine-phosphorylation. Moreover, Cig2/CDK can drive mitosis in the absence of Cdc13/CDK activity and constitutive expression of Cig2 can rescue loss of Cdc13 activity. These results demonstrate that in fission yeast, not only can the presumptive M-phase cyclin drive S phase, but the presumptive S-phase cyclin can drive M phase, further supporting the quantitative model of CDK function. Furthermore, these results provide an explanation, previously proposed on the basis of computational analyses, for the surprising observation that cells expressing a single-chain Cdc13-Cdc2 CDK do not require Y15 phosphorylation for viability. Their viability is due to the fact that in such cells, which lack Cig2/CDK complexes, Cdc13/CDK activity is unable to drive mitotic catastrophe.
The phylogeography of westslope cutthroat trout
Authors: Young Michael K. , McKelvey Kevin S. , Jennings Tara , Carter Katie , Cronn Richard , Keeley Ernest R. , Loxterman Janet L. , Pilgrim Kristy L. , Schwartz Michael K. 
Published: November 2017

AbstractIdentifying units of conservation of aquatic species is fundamental to informed natural resources science and management. We used a combination of mitochondrial and nuclear molecular methods to identify potential units of conservation of westslope cutthroat trout, a taxon native to montane river basins of the northwestern U.S. and southwestern Canada. Mitogenomic sequencing identified two major lineages composed of nine monophyletic clades, and a well-supported subclade within one of these, largely delineated by river basins. Analyses of microsatellites and single nucleotide polymorphisms corroborated most of these groupings, sometimes with less resolution but demonstrating more complex connections among clades. The mitochondrial and nuclear analyses revealed that Pleistocene glacial cycles profoundly influenced the distribution and divergence of westslope cutthroat trout, that this taxon crossed the Continental Divide in two separate events, and that genetically pure but nonindigenous fish were widely distributed. Herein, we recognize nine geographically discrete, cytonuclear lineages largely circumscribed by major river basins as potential units of conservation: 1) John Day; 2) Coeur d’Alene; 3) St. Joe; 4) North Fork Clearwater; 5) Salmon; 6) Clearwater headwaters; 7) Clearwater-eastern Cascades; 8) neoboreal, consisting of most of the Columbia upstream from central Washington, the Fraser in British Columbia, and the South Saskatchewan in Alberta; and 9) Missouri.