bluuebunny/crossref_metadata_2025_split huggingface dataset:
Pathogenic mutations inNUBPLaffect complex I activity and cold tolerance in the yeast modelYarrowia lipolytica
Authors: Maclean Andrew E. , Kimonis Virginia E. , Balk Janneke 
Published: June 2018

AbstractComplex I deficiency is a common cause of mitochondrial disease, resulting from mutations in genes encoding structural subunits, assembly factors or defects in mitochondrial gene expression. Advances in genetic diagnostics and sequencing have led to identification of several variants in NUBPL, an assembly factor of complex I, which are potentially pathogenic. To help assign pathogenicity and learn more about the function of NUBPL, amino acid substitutions were recreated in the homologous Ind1 protein of the yeast modelYarrowia lipolytica. L102P destabilized the Ind1 protein, leading to a null-mutant phenotype. D103Y, L191F and G285C affected complex I assembly to varying degrees, whereas the G138D variant did not impact on complex I levels or dNADH:ubiquinone activity. Blue-native PAGE and immunolabelling of the structural subunits NUBM and NUCM revealed that all Ind1 variants accumulated a Q-module intermediate of complex I. In the D103Y variant the matrix arm intermediate was virtually absent, indicating a dominant effect. Dysfunction of Ind1, but not absence of complex I, renderedY. lipolyticasensitive to cold. The Ind1 G285C variant was able to support complex I assembly at 28°C, but not at 10°C. Our results indicate that Ind1 is required for progression of assembly from the Q module to the full matrix arm. Cold sensitivity could be developed as a phenotype assay to demonstrate pathogenicity ofNUBPLmutations and other complex I defects.
Catalytic Use of a Leader Peptide in the Biosynthesis of 3-Thiaglutamate
Authors: Funk Michael A. , Ting Chi , van der Donk Wilfred A. 
Published: June 2018

AbstractSmall molecule natural products are key modulators of many types of intra- and interspecies communication. The availability of genome sequences allows the discovery of pathways to previously unknown natural products. We describe here a pathway in which a ribosomally synthesized small peptide serves as a catalytic scaffold on which a small-molecule anti-metabolite is biosynthesized in Pseudomonas syringae. First, a cysteine residue is transferred from Cys-tRNA to the C-terminus of the peptide, a reaction that replaces ribosomal protein synthesis. Then, a translocation of the cysteine thiol from the β-carbon to the α-carbon is catalyzed by an oxidase that removes the β-carbon as formate. The resulting thiol is carboxymethylated and proteolysis releases 3-thiaglutamate, in the process regenerating the peptide scaffold. This pathway features three previously unknown biochemical processes.
Mechanical and Microstructural Properties of Pediatric Anterior Cruciate Ligaments and Autograft Tendons used for Reconstruction
Authors: Schmidt Elaine C , Chin Matthew , Aoyama Julien T , Ganely Theodore J , Shea Kevin G , Hast Michael W 
Published: June 2018

ABSTRACTBackgroundOver the last several decades there has been a steady increase in pediatric ACL tears, particularly in young female basketball and soccer players. Because allograft tissue for pediatric ACL reconstruction (ACLR) has shown high rates of failure, autograft tissue may be the best option for ACLR in this population. However, the differences in structure and mechanical behavior of these tissues are not clear.PurposeThis study sought to characterize mechanical and microstructural properties in pediatric ACLs and autograft tissues using a rare cadaveric cohort (mean age 9.2 years).Study DesignDescriptive laboratory study.MethodsACLs, patellar tendons, quadriceps tendons, semitendinosus tendons, and iliotibial bands (ITBs) were harvested from five fresh-frozen pediatric knee specimens (3M, 2F) and subjected to a tensile loading protocol. A subset of contralateral tissues were analyzed using brightfield, polarized light, and transmission electron microscopy.ResultsPatellar tendons exhibited values for ultimate stress (5.2±3.1 MPa), ultimate strain (35.3±12.5%), and Young’s Modulus (27.0±8.0 MPa) that were most similar to the ACL (5.2±2.2 MPa; 31.4±9.9%; 23.6±15.5 MPa). Semitendinosus tendons and ITBs were stronger but less compliant than the quadriceps or patellar tendons. ITBs exhibited crimp wavelengths (24.3±3.1 um) and collagen fibril diameters (67.5±19.5 nm) that were most similar to the ACL (24.4±3.2 um; 69.7±20.3 nm).ConclusionThe mechanical properties of the patellar tendon were almost identical to that of the ACL. The ITB exhibited increased strength and similar microstructure to the native ACL. These findings are not entirely congruent to studies examining adult tissues.Clinical RelevanceResults suggest that ITB tissue may be the preferable choice as an autograft tissue in pediatric ACL reconstructions.Key TermsPediatric, ACL reconstruction, mechanical properties, microstructural properties, patella tendon grafts, quadriceps tendon grafts, hamstring graftsWhat is Known about the SubjectDue to the extreme rarity of pediatric cadaveric specimens, very little is known about these tissues.What this Study Adds to Existing KnowledgeThis suite of data can be used to further optimize the design and selection of grafts for reconstruction and may provide insight into the development of constitutive musculoskeletal models.
Absolute quantification of translational regulation and burden using combined sequencing approaches
Authors: Gorochowski Thomas E. , Chelysheva Irina , Eriksen Mette , Nair Priyanka , Pedersen Steen , Ignatova Zoya 
Published: June 2018

AbstractTranslation of mRNAs into proteins is a key cellular process. Ribosome binding sites and stop codons provide signals to initiate and terminate translation, while stable secondary mRNA structures can induce translational recoding events. Fluorescent proteins are commonly used to characterize such elements but require the modification of a part’s natural context and allow only a few parameters to be monitored concurrently. Here, we develop an approach that combines ribosome profiling (Ribo-seq) with quantitative RNA sequencing (RNA-seq) to enable the high-throughput characterization of genetic parts controlling translation in absolute units. We simultaneously measure 743 translation initiation rates and 746 termination efficiencies across theEscherichia colitranscriptome, in addition to translational frameshifting induced at a stable RNA pseudoknot structure. By analyzing the transcriptional and translational response, we discover that sequestered ribosomes at the pseudoknot contribute to a σ32-mediated stress response, codon-specific pausing, and a drop in translation initiation rates across the cell. Our work demonstrates the power of integrating global approaches towards a comprehensive and quantitative understanding of gene regulation and burden in living cells.
Being an adult child of an elderly person living in a nursing home: a phenomenological approach to the Turkish case
Authors: Önder Erol Pelin , Gün Elif 
Published: June 2018

Purpose
A long-established cultural norm of filial piety may cause ambivalent feelings for adult children who are considered the primary caregivers for their elderly parents in Turkish culture, and whose parents have been placed into nursing homes. The purpose of this paper is to provide an insight to the lived experiences of adult children of elderly people living in a nursing home in Turkey.

Design/methodology/approach
Drawing upon dramaturgical theory and phenomenological methodology, the authors conducted interviews with ten adult children whose elderly parents had been admitted to a nursing home in Izmir, Turkey. Multi-stage purposeful random sampling was used as the sampling scheme. Thematic analysis was performed to interpret the data.

Findings
Three themes emerged from the data: adult children’s coping strategies, the ways in which the adult children rationalize their decisions, and the ways in which the adult children manage the placement process. The interviews revealed that the adult children often feel like social outcasts and experience a wide range of difficulties, including social pressures, their own inner dilemmas, and negotiations with their elderly parents.

Originality/value
An exploration for the lived experiences of adult children relating to the nursing home placement of their elderly parents contributes an insight about the well-established cultural norms that produce feelings of ambivalence.
Cytochrome P450 genotype‐guided drug therapies: An update on current states
Authors: Dong Amelia Nathania , Tan Boon Hooi , Pan Yan , Ong Chin Eng 
Published: June 2018

SummaryOver the past 2 decades, knowledge of the role and clinical value of pharmacogenetic markers has expanded so that individualized pre‐emptive therapy based on genetic background of patients could be within reach for clinical implementation. This is evidenced from the frequent updating of drug labels that incorporates pharmacogenetic information (where compelling data become available) by the regulatory agencies (such as the US FDA), and the periodical publication of guidelines of specific therapeutic recommendations based on the results of pharmacogenetic tests by the pharmacogenetics working groups or consortiums of professional bodies. Clinical relevance of the cytochrome P450 (CYP) polymorphism related to dose, effectiveness and/or toxicity of key drugs are presented in this review, including that of warfarin, clopidogrel, tricyclic antidepressants, and proton pump inhibitors. Prospect for routine clinical application of CYP genotyping before prescribing drugs is still currently unclear due to challenges and barriers associated with availability of well‐defined and validated pharmacogenetic studies, the interpretation, result reporting and potential error of genotype testing, involvement of non‐genetic factors, and other patient's demographic and disease conditions. Further studies to provide additional supporting clinical data and acceleration of pharmacogenetic testing standards and techniques should help improve the evidence base needed for clinical utility and hence move the implementation of genotype‐guided therapy in clinical practice a step closer to reality.
Perceived Need and Receipt of Behavioral Health Services at Drop‐In Centers among Homeless Youth
Authors: Pedersen Eric R. , Tucker Joan S. , Klein David J. , Parast Layla 
Published: June 2018

ObjectiveHomeless youth are a population in need of housing assistance and case management, as well as services to address behavioral health problems. This study examines youth's perceived need for and receipt of services through drop‐in centers.Data SourceSurveys of 273 homeless youth.Study DesignCross‐sectional.Extraction MethodsDescriptive analyses with bivariate and multivariable regression models.Principal FindingsAbout one‐third to half of the sample met criteria for behavioral health problems, yet half or less of those meeting criteria reported a need for services targeting the problems. Most youth who perceived a need for services received relevant services through a drop‐in center, with the exception of care for substance use problems. Youth with behavioral health problems were more likely to perceive a need for services related to housing and case management than those addressing behavioral health problems more directly. Multivariable regression analyses indicated that the factors most strongly associated with perceived need for services were not behavioral health problems, but rather race/ethnicity, traveler status, trouble meeting basic needs, delinquency, abuse/victimization experiences, and trading sex.ConclusionsFindings can help to develop outreach and intervention efforts to reach homeless youth and help promote the use of behavioral health services.
Tailored Strategies to Enhance Survey Response among Proxies of Deceased Patients
Authors: Gu Qian , Hassol Andrea , Creel Alisha , Keating Nancy L. 
Published: June 2018

ObjectiveTo enhance proxy survey responses for deceased cancer patients.Data SourcesTwo waves of surveys about care experiences of cancer chemotherapy patients (used for a value‐based purchasing initiative), collected November 2016 through March 2017.Study DesignSurveys were mailed to deceased patients (for proxy response) in the untailored first survey wave, and using a tailored strategy in the second wave. We compared proxy responses for deceased patients with and without the tailored approach.Principal FindingsA tailored survey approach improved the proxy response rate from 17.6 percent to 39.0 percent.ConclusionsSimple tailoring strategies can significantly enhance proxy response rates when surveying patients in a high mortality population. However, we were unable to address the impact of higher proxy response rates on response bias since we surveyed different patients in each wave.
RPASE: Individual‐based allele‐specific expression detection without prior knowledge of haplotype phase
Authors: Wang Mi , Uebbing Severin , Pawitan Yudi , Scofield Douglas G. 
Published: June 2018

AbstractVariation in gene expression is believed to make a significant contribution to phenotypic diversity and divergence. The analysis of allele‐specific expression (ASE) can reveal important insights into gene expression regulation. We developed a novel method called RPASE (Read‐backed Phasing‐based ASE detection) to test for genes that show ASE. With mapped RNA‐seq data from a single individual and a list of SNPs from the same individual as the only input, RPASE is capable of aggregating information across multiple dependent SNPs and producing individual‐based gene‐level tests for ASE. RPASE performs well in simulations and comparisons. We applied RPASE to multiple bird species and found a potentially rich landscape of ASE.
Hot Off the Press: SGEM #218. Excited Delirium: A Systematic Review
Authors: Bond Christopher , Morgenstern Justin , Heitz Corey , Milne William K. 
Published: June 2018

AbstractThis systematic review provides an assessment of the excited delirium syndrome (ExDS), including definition, epidemiology, pathophysiology, and management. Sixty‐six relevant articles were included with significant heterogeneity of selected studies and poor overall quality. A quantitative meta‐analysis could not be performed because there remains no clear definition for ExDS, however, this study does provide useful information regarding epidemiology, pathophysiology, and treatment of ExDS.
Face validity of a pre‐clinical model of operant binge drinking: just a question of speed
Authors: Jeanblanc Jérôme , Sauton Pierre , Jeanblanc Virginie , Legastelois Rémi , Echeverry‐Alzate Victor , Lebourgeois Sophie , del Carmen Gonzalez‐Marin Maria , Naassila Mickaël 
Published: June 2018

AbstractBinge drinking (BD) is often defined as a large amount of alcohol consumed in a ‘short’ period of time or ‘per occasion’. In clinical research, few researchers have included the notion of ‘speed of drinking’ in the definition of BD. Here, we aimed to describe a novel pre‐clinical model based on voluntary operant BD, which included both the quantity of alcohol and the rapidity of consumption. In adult Long–Evans male rats, we induced BD by regularly decreasing the duration of ethanol self‐administration from 1‐hour to 15‐minute sessions. We compared the behavioral consequences of BD with the behaviors of rats subjected to moderate drinking or heavy drinking (HD). We found that, despite high ethanol consumption levels (1.2 g/kg/15 minutes), the total amounts consumed were insufficient to differentiate HD from BD. However, consumption speed could distinguish between these groups. The motivation to consume was higher in BD than in HD rats. After BD, we observed alterations in locomotor coordination in rats that consumed greater than 0.8 g/kg, which was rarely observed in HD rats. Finally, chronic BD led to worse performance in a decision‐making task, and as expected, we observed a lower stimulated dopaminergic release within nucleus accumbens slices in poor decision makers. Our BD model exhibited good face validity and can now provide animals voluntarily consuming very rapidly enough alcohol to achieve intoxication levels and thus allowing the study of the complex interaction between individual and environmental factors underlying BD behavior.
Identification of irisin immunoreactivity in porcupine (Hystrix cristata) adrenal glands and kidneys
Authors: Timurkaan Sema , Gür Fatih M. , Gençer Tarakçı Berrin , Yalçın Mehmet H. , Girgin Mustafa 
Published: June 2018

AbstractIrisin, a novel peptide, was initially been shown to be expressed explicitly in the muscle tissues. We studied the presence of irisin immunoreactivity in porcupine adrenal glands and kidneys. Immunocytochemistry showed that irisin was localised both in the adrenal cortex and adrenal medulla. In organs, irisin immunoreactivity was found in the tubular and collecting system of the nephron. The functional role of irisin in the adrenal gland and kidney has not been precisely yet. However, irisin might have a paracrine and autocrine function as do other locally produced peptides.
Comparison of peripheral nerve blockade characteristics between non‐diabetic patients and patients suffering from diabetic neuropathy: a prospective cohort study
Authors: Baeriswyl M. , Taffé P. , Kirkham K. R. , Bathory I. , Rancati V. , Crevoisier X. , Cherix S. , Albrecht E. 
Published: June 2018

SummaryAnimal data have demonstrated increased block duration after local anaesthetic injections in diabetic rat models. Whether the same is true in humans is currently undefined. We, therefore, undertook this prospective cohort study to test the hypothesis that type‐2 diabetic patients suffering from diabetic peripheral neuropathy would have increased block duration after ultrasound‐guided popliteal sciatic nerve block when compared with patients without neuropathy. Thirty‐three type‐2 diabetic patients with neuropathy and 23 non‐diabetic control patients, scheduled for fore‐foot surgery, were included prospectively. All patients received an ultrasound‐guided popliteal sciatic nerve block with a 30 ml 1:1 mixture of lidocaine 1% and bupivacaine 0.5%. The primary outcome was time to first opioid request after block procedure. Secondary outcomes included the time to onset of sensory blockade, and pain score at rest on postoperative day 1 (numeric rating scale 0–10). These outcomes were analysed using an accelerated failure time regression model. Patients in the diabetic peripheral neuropathy group had significantly prolonged median (IQR [range]) time to first opioid request (diabetic peripheral neuropathy group 1440 (IQR 1140–1440 [180–1440]) min vs. control group 710 (IQR 420–1200 [150–1440] min, p = 0.0004). Diabetic peripheral neuropathy patients had a time ratio of 1.57 (95%CI 1.10–2.23, p < 0.01), experienced a 59% shorter time to onset of sensory blockade (median time ratio 0.41 (95%CI 0.28–0.59), p < 0.0001) and had lower median (IQR [range]) pain scores at rest on postoperative day 1 (diabetic peripheral neuropathy group 0 (IQR 0–1 [0–5]) vs. control group 3 (IQR 0–5 [0–9]), p = 0.001). In conclusion, after an ultrasound‐guided popliteal sciatic nerve block, patients with diabetic peripheral neuropathy demonstrated reduced time to onset of sensory blockade, with increased time to first opioid request when compared with patients without neuropathy.
Benign prostatic hyperplasia and intraprostatic inflammation are associated with liver inflammation: it's time for prevention
Authors: Privitera S. , Russo G. I. , La Vignera S. , Condorelli R. A. , Calogero A. E. , Cantiello F. , Damiano R. , Favilla V. , Cimino S. , Morgia G. 
Published: June 2018

SummarySome evidences have supported the link between benign prostatic hyperplasia (BPH)/lower urinary tract symptoms (LUTS) and inflammation. In this study, we aimed to evaluate the association between prostatic inflammation (PI) and non‐alcoholic steatohepatitis (NASH) evaluated by a non‐invasive scores in a cohort of patients affected by BPH/LUTS. Between January 2012 and January 2016, we conducted a prospective study in a single academic outpatient clinic on 132 consecutive patients who underwent surgery for lower urinary tract symptoms (LUTS) due to bladder outlet obstruction (BOO). A non‐invasive non‐alcoholic steatohepatitis score (NASH score) was calculated, and PI was evaluated through the Irani score. Patients with a NASH score > 1.05 had an average larger prostate volume (55 vs. 45 cc, p < 0.05), a greater waist circumference (103 vs. 93.5 cm, p < 0.01), and high values of blood glucose, triglycerides, insulin, and BMI compared to patients without NASH; 36% of patients with an Irani score ≥ 4 had NASH compared to 16.1% of patients who had a NASH score < 1.05 (p < 0.05). We found that non‐alcoholic steatohepatitis (NASH ≥ 1.05) was an independent risk factor for Irani score ≥4 (OR: 3.24; p < 0.05) and of prostate volume ≥ 40 cc (OR: 13.99; p < 0.01). LUTS/BPH and NASH can be closely related, underlying common triggers of induction. In particular, inflammation seems to be associated with both conditions and with prostate gland overgrowth. Early identification of this class of patients could play a key role in preventing complications related to disease progression.
Placing Transport Workers on the Agenda: The Conflicting Logics of Governing Mobility on Bishkek's Marshrutkas
Authors: Rekhviashvili Lela , Sgibnev Wladimir 
Published: June 2018

AbstractTransport workers are conspicuously absent from both mobilities and urban studies literature. This paper therefore starts out with a double critique. First, transport workers, primarily drivers, are largely disregarded in mobilities and urban transport research. Second, the literature we find on transport workers—mostly based in empirical settings in the global South—remains outside recent and ongoing debates in critical urban transport studies. Providing empirical insights from post‐Soviet Central Asia, this paper strives to close these gaps and delve into the struggles and cleavages that structure informal transport workers’ positions and livelihoods. We argue that the diverse and contradictory logics that govern urban mobility affect the livelihoods and working conditions of informal transport workers, as well as their choices and motivations. These, in turn, significantly shape mobility provision, in terms of urban transport's (lack of) affordability, accessibility, convenience and safety.
Hospital care for viral gastroenteritis in socio‐economic and geographical context in Sweden 2006–2013
Authors: Lind Johannes , Schollin Ask Lina , Juarez Sol , Hjern Anders 
Published: June 2018

AbstractAimWe investigated socio‐economic and geographical determinants of hospital care for viral gastroenteritis in young children.MethodThis is a register‐based study in a national birth cohort of 752 078 children 0–5 years of age in Sweden during 2006–2012. Hazard ratios (HR) of time to first admission and first episode of outpatient emergency department (ED) care with a diagnosis of viral gastroenteritis were estimated with Cox regression.ResultsThe adjusted HRs for hospital admission with a diagnosis of viral gastroenteritis were increased when the mother was below 25 years at the birth of the child, 1.30 (95% CI: 1.24–1.35), had a short (<=9 years) education, 1.18 (95% CI: 1.12–1.23), a psychiatric disorder, 1.34 (95% CI: 1.30–1.39), and/or when parents were born outside Europe, 1.23 (95% CI: 1.18–1.29). In contrast, the disposable income of the family was only marginally associated with such hospital admissions. The pattern of HRs for outpatient ED hospital care was similar. Hospital care incidences for viral gastroenteritis differed considerably between Swedish counties.ConclusionParental indicators associated with a lower level of health literacy increase the risk for hospital care due to gastroenteritis in young children. Information about oral rehydration should be provided in ways that are accessible to these parents.