bluuebunny/crossref_metadata_2025_split huggingface dataset:
Neuroimaging pattern and pathophysiology of cerebellar stroke-like lesions in MELAS with m.3243A>G mutation: a case report
Authors: Oyama Munenori , Iizuka Takahiro , Nakahara Jin , Izawa Yoshikane 
Published: May 2020

Abstract
Background
Stroke-like episodes (SLEs) in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) with m.3243A > G mutation usually develop in the cerebral cortex. Few reports have documented SLEs in the cerebellum. The clinical neuroimaging features of cerebellar SLEs have not been fully investigated. We report distinctive features of cerebellar stroke-like lesions (SLLs) in a case of MELAS with m.3243A > G mutation.

Case presentation
A 47-year-old Japanese man with type-2 diabetes presented to our hospital with acute onset of aphasia. A brain MRI obtained on admission (day 1) showed increased diffusion-weighted imaging (DWI)/fluid-attenuated inversion recovery (FLAIR) signal in the left anterolateral temporal lobe, which subsequently spread along the cortex posteriorly accompanied by a new lesion in the right anterior temporal lobe. The patient was initially treated with acyclovir and subsequently with immunotherapy. However, on day 45, cerebellar ataxia developed. The brain MRI showed extensive increased DWI/FLAIR signals in the cerebellum along the folia without involvement of deep cerebellar nucleus or cerebellar peduncle; SLLs were incongruent with a vascular territory, similarly to classic cerebral SLLs. Apparent diffusion coefficient (ADC) map did not show reduction in ADC values in the affected folia. Genomic analysis revealed m.3243A > G mutation (heteroplasmy in leukocytes, 17%), confirming the diagnosis of MELAS. After the treatment with taurine (12,000 mg/day), L-arginine (12,000 mg/day), vitamin B1 (100 mg/day), and carnitine (3000 mg/day), the patient became able to follow simple commands, and he was transferred to a rehabilitation center on day 146. The follow-up MRI showed diffuse brain atrophy, including the cerebellum.

Conclusions
SLLs develop in the cerebellum in MELAS with m.3243A > G mutation. The neuroimaging similarities to cerebral SLLs suggest the presence of the common pathophysiological mechanisms underlying both SLEs, which include microangiopathy and increased susceptibility of the cortex to metabolic derangements.
Surgical outcomes of Glaucoma associated with Axenfeld-Rieger syndrome
Authors: Zepeda Emily M. , Branham Kari , Moroi Sayoko E. , Bohnsack Brenda L. 
Published: May 2020

Abstract
Background
The surgical management of glaucoma associated with Axenfeld-Rieger Syndrome (ARS) is poorly described in the literature. The goal of this study is to compare the effectiveness of various glaucoma surgeries on intraocular pressure (IOP) management in ARS.

Methods
Retrospective cohort study at a university hospital-based practice of patients diagnosed with ARS between 1973 and 2018. Exclusion criterion was follow-up less than 1 year. The number of eyes with glaucoma (IOP ≥ 21 mmHg with corneal edema, Haabs striae, optic nerve cupping or buphthalmos) requiring surgery was determined. The success and survival rates of goniotomy, trabeculotomy±trabeculectomy (no antifibrotics), cycloablation, trabeculectomy with anti-fibrotics, and glaucoma drainage device placement were assessed. Success was defined as IOP of 5-20 mmHg and no additional IOP-lowering surgery or visually devastating complications. Kaplan-Meier survival curves and the Wilcoxon test were used for statistical analysis.

Results
In 32 patients identified with ARS (median age at presentation 6.9 years, 0–58.7 years; median follow-up 5.4 years, 1.1–43.7 years), 23 (71.9%) patients were diagnosed with glaucoma at median age 6.3 years (0–57.9 years). In glaucomatous eyes (46 eyes), mean IOP at presentation was 21.8 ± 9.3 mmHg (median 20 mmHg, 4-45 mmHg) on 1.0 ± 1.6 glaucoma medications. Thirty-one eyes of 18 patients required glaucoma surgery with 2.2 ± 1.2 IOP-lowering surgeries per eye. Goniotomy (6 eyes) showed 43% success with 4.3 ± 3.9 years of IOP control. Trabeculotomy±trabeculectomy (6 eyes) had 17% success rate with 14.8 ± 12.7 years of IOP control. Trabeculectomy with anti-fibrotics (14 eyes) showed 57% success with 16.5 ± 13.5 years of IOP control. Ahmed© (FP7 or FP8) valve placement (8 eyes) had 25% success rate with 1.7 ± 1.9 years of IOP control. Baerveldt© (250 or 350) device placement (8 eyes) showed 70% success with 1.9 ± 2.3 years of IOP control. Cycloablation (4 eyes) had 33% success rate with 2.7 ± 3.5 years of IOP control. At final follow-up, mean IOP (12.6 ± 3.8 mmHg, median 11.8 mmHg, 7-19 mmHg) in glaucomatous eyes was significantly decreased (p < 0.0001), but there was no difference in number of glaucoma medications (1.6 ± 1.5, p = 0.1).

Conclusions
In our series, greater than 70% of patients with ARS have secondary glaucoma that often requires multiple surgeries. Trabeculectomy with anti-fibrotics and Baerveldt glaucoma drainage devices showed the greatest success in obtaining IOP control.
Understanding factors that contribute to variations in bronchiolitis management in acute care settings: a qualitative study in Australia and New Zealand using the Theoretical Domains Framework
Authors:   On behalf of the Paediatric Research in Emergency Departments International Collaborative (PREDICT) nectwork, Australia, Haskell Libby , Tavender Emma J. , Wilson Catherine , Babl Franz E. , Oakley Ed , Sheridan Nicolette , Dalziel Stuart R. 
Published: May 2020

Abstract
Background
Bronchiolitis is the most common reason for infants under one year of age to be hospitalised. Despite management being well defined with high quality evidence of no efficacy for salbutamol, adrenaline, glucocorticoids, antibiotics or chest x-rays, substantial variation in practice occurs. Understanding factors that influence practice variation is vital in order to tailor knowledge translation interventions to improve practice. This study explores factors influencing the uptake of five evidence-based guideline recommendations using the Theoretical Domains Framework.

Methods
Semi-structured interviews were undertaken with clinicians in emergency departments and paediatric inpatient areas across Australia and New Zealand exploring current practice, and factors that influence this, based on the Theoretical Domains Framework. Interview transcripts were coded using thematic content analysis.

Results
Between July and October 2016, 20 clinicians (12 doctors, 8 nurses) were interviewed. Most clinicians believed chest x-rays were not indicated and caused radiation exposure (beliefs about consequences). However, in practice their decisions were influenced by concerns about misdiagnosis, severity of illness, lack of experience (knowledge) and confidence in managing infants with bronchiolitis (skills), and parental pressure influencing practice (social influences). Some senior clinicians believed trialling salbutamol might be of benefit for some infants (beliefs about consequences) but others strongly discounted this, believing salbutamol to be ineffective, with high quality evidence supporting this (knowledge). Most were concerned about antibiotic resistance and did not believe in antibiotic use in infants with bronchiolitis (beliefs about consequences) but experienced pressure from parents to prescribe (social influences). Glucocorticoid use was generally believed to be of no benefit (knowledge) with concerns surrounding frequency of use in primary care, and parental pressure (social influences). Nurse’s reinforced evidence-based management of bronchiolitis with junior clinicians (social/professional role and identity). Regular turnover of medical staff, a lack of ‘paediatric confident’ nurses and doctors, reduced senior medical coverage after hours, and time pressure in emergency departments were factors influencing practice (environmental context and resources).

Conclusions
Factors influencing the management of infants with bronchiolitis in the acute care period were identified using the Theoretical Domains Framework. These factors will inform the development of tailored knowledge translation interventions.
Chinese patient with neurofibromatosis-Noonan syndrome caused by novel heterozygous NF1 exons 1–58 deletion: a case report
Authors: Zhang Zhen , Chen Xin , Zhou Rui , Yin Huaixiang , Xu Jiali 
Published: May 2020

Abstract
Background
Neurofibromatosis-Noonan syndrome (NFNS) is a rare autosomal dominant hereditary disease. We present a case of NFNS due to the heterozygous deletion of exons 1–58 of the NF1 gene on chromosome 17 in a 15-month-old boy.

Case presentation
A 15-month-old boy was admitted for motor and language developmental delay, numerous café-au-lait spots, hypertelorism, left blepharoptosis, pectus excavatum, cryptorchidism, secondary atrial septal defect, and UBOs (undefined bright objects) revealed by cranial MRI T2FLAIR in basal ganglia and cerebellum. Using whole exome sequencing, we identified a de novo heterozygous deletion including exons 1–58 of the NF1 gene.

Conclusion
Although genetic tests are useful tools for diagnosis of NFNS, NF1, or NS, comprehensive analysis of genetic factors and phenotypes is indispensable in the clinical practice. To the best of our knowledge, this case presents the first Chinese NFNS case due to NF1 defects, and the NF1 exons 1–58 deletion-related phenotype is unlike any other reported case.
Cues for different diagnostic patterns of interpersonal violence in a psychiatric sample: an observational study
Authors: Talevi Dalila , Collazzoni Alberto , Rossi Alessandro , Stratta Paolo , Mazza Monica , Pacitti Francesca , Costa Manuela , Crescini Claudio , Rossi Rodolfo 
Published: May 2020

Abstract
Background
Interpersonal violence has increased as a health concern, especially in psychiatry practice, over the last decades. Nevertheless, most patients with stable mental disorders do not present an increased risk of violence, and mental disorder is not a necessary or sufficient cause of violent behaviours. People with mental disorders endorse more often a number of risk factors for violence that could confound this association, such as young age and male gender. The aim of this study was to investigate the effect of age, gender, and diagnosis on reported levels of interpersonal violence in a sample of people with severe mental illness.

Methods
The sample was composed of 160 inpatients: 73 with a psychosis within the schizophrenia spectrum, 53 with a mood disorder and 34 with a personality disorder. All patients enrolled in the study were assessed for experiences of victimization and perpetration of interpersonal violence using the Karolinska Interpersonal Violence Scale interview. Demographic variables were also collected.

Results
Both violence perpetration and victimization negatively correlated with age. Compared to males, females were exposed to higher degree of victimization in childhood and adulthood, whereas males were more involved in the perpetration of violence in childhood. Personality disorders were associated with higher levels of interpersonal violence, both perpetration and victimization; an interaction effect of gender and diagnosis was also observed for violence perpetration in adulthood. Distinct patterns of interpersonal violence did emerge for the diagnostic groups with mood disorder showing a victimization pattern, personality disorders a perpetration pattern and psychoses less defined patterns.

Conclusions
The main finding is that psychotic disorders, mood disorders and personality disorders have different patterns of violent experiences interacting with age and gender. This study offers a better understanding of how gender and age could affect violent behaviours. Moreover, study findings may increase the comprehension of the reason why some mental disorders, compared to others, are more associated with the risk of victimization or perpetration of violence. These patterns could have pathophysiological or pathoplastic meaning addressing clinical and diagnostic trajectories and they could interact with other intervening risk factors.
Association of fine particulate matter exposure with acute noncardiovascular critical illnesses and in-hospital outcomes in patients receiving intensive cardiac care
Authors: Chen Fei , Liu Qi , Huang Baotao , Huang Fangyang , Li Yiming , Peng Yong , Chen Mao 
Published: May 2020

Abstract
Background
The effect of short-term exposure to fine particulate matter (PM2.5) on the incidence of acute noncardiovascular critical illnesses (ANCIs) and clinical outcomes is unknown in patients with acute cardiovascular diseases.

Methods
We conducted a retrospective study in 2337 admissions to an intensive cardiac care unit (ICCU) from June 2016 to May 2017. We used the 2-day average PM2.5 concentration before ICCU admission to estimate the individual exposure level, and patients were divided into 3 groups according to the concentration tertiles. Major ANCI was defined as the composite of acute respiratory failure, acute kidney injury, gastrointestinal hemorrhage, or sepsis. The primary endpoint was all-cause death or discharge against medical advice in extremely critical condition.

Results
During the 12-month study period, the annual median concentration of PM2.5 in Chengdu, China was 48 μg/m3 (IQR, 33–77 μg/m3). More than 20% of admissions were complicated by major ANCI, and the primary endpoints occurred in 7.6% of patients during their hospitalization. The association of short-term PM2.5 exposure levels with the incidence of acute respiratory failure (adjusted OR [odds ratio] =1.31, 95% CI [confidence interval]1.12–1.54) and acute kidney injury (adjusted OR = 1.20, 95% CI 1.02–1.41) showed a significant trend. Additionally, there were numerically more cases of sepsis (adjusted OR = 1.21, 95% CI 0.92–1.60) and gastrointestinal hemorrhage (adjusted OR = 1.29, 95% CI 0.94–1.77) in patients with higher exposure levels. After further multivariable adjustment, short-term PM2.5 exposure levels were still significantly associated with incident major ANCI (adjusted OR = 1.32, 95% CI 1.12–1.56), as well as a higher incidence of the primary endpoint (adjusted OR = 1.52, 95% CI 1.09–2.12).

Conclusion
Short-term PM2.5 exposure before ICCU admission was associated with an increased risk of incident major ANCI and worse in-hospital outcomes in patients receiving intensive cardiac care.
Determinants of clean birthing practices in low- and middle-income countries: a scoping review
Authors: Esteves Mills Joanna , Flynn Erin , Cumming Oliver , Dreibelbis Robert 
Published: May 2020

Abstract
Background
Infection is a leading cause of maternal and newborn mortality in low- and middle-income countries (LMIC). Clean birthing practices are fundamental to infection prevention efforts, but these are inadequate in LMIC. This scoping study reviews the literature on studies that describe determinants of clean birthing practices of healthcare workers or mothers during the perinatal period in LMIC.

Methods
We reviewed literature published between January 2000 and February 2018 providing information on behaviour change interventions, behaviours or behavioural determinants during the perinatal period in LMIC. Following a multi-stage screening process, we extracted key data manually from studies. We mapped identified determinants according to the COM-B behavioural framework, which posits that behaviour is shaped by three categories of determinants – capability, opportunity and motivation.

Results
Seventy-eight studies were included in the review: 47 observational studies and 31 studies evaluating an intervention. 51% had a household or community focus, 28% had a healthcare facility focus and 21% focused on both. We identified 31 determinants of clean birthing practices. Determinants related to clean birthing practices as a generalised set of behaviours featured in 50 studies; determinants related specifically to one or more of six predefined behaviours – commonly referred to as “the six cleans” – featured in 31 studies. Determinants of hand hygiene (n = 13) and clean cord care (n = 11) were most commonly reported. Reported determinants across all studies clustered around psychological capability (knowledge) and physical opportunity (access to resources). However, greater heterogeneity in reported behavioural determinants was found across studies investigating specific clean birthing practices compared to those studying clean birthing as a generalised set of behaviours.

Conclusions
Efforts to combine clean birthing practices into a single suite of behaviours – such as the “six cleans”– may simplify policy and advocacy efforts. However, each clean practice has a unique set of determinants and understanding what drives or hinders the adoption of these individual practices is critical to designing more effective interventions to improve hygiene behaviours and neonatal and maternal health outcomes in LMIC. Current understanding in this regard remains limited. More theory-grounded formative research is required to understand motivators and social influences across different contexts.
Septoplasty versus non-surgical management for nasal obstruction in adults with a deviated septum: economic evaluation alongside a randomized controlled trial
Authors: van Egmond M. M. H. T. , Grutters J. P. C. , Hannink G. , van Heerbeek N. , Rovers M. M. 
Published: May 2020

Abstract
Background
For years, the benefits of septoplasty have been questioned. Due to the scarce and inconclusive literature, several National Health Service (NHS) Clinical Commissioning Groups in England decided to add septal surgery to their list of restricted procedures with low clinical value. Recently, evidence was obtained that septoplasty is actually more effective than non-surgical management for nasal obstruction in adults with a deviated septum. However, the relation between costs and effects of septoplasty remains unknown.

Methods
We conducted an economic evaluation alongside an open, multicenter, pragmatic randomized controlled trial in two tertiary and 16 secondary referral hospitals in the Netherlands. Adults with nasal obstruction and a deviated septum were randomized to (1) septoplasty with or without concurrent turbinate surgery or (2) non-surgical management consisting of (a combination of) medical treatment and watchful waiting. Analyses were performed on an intention-to-treat basis. Single imputation nested in the bootstrap percentile method (using 5000 bootstrap replications) was performed to assess the effect of missing data. After 12 and 24 months, we assessed the incremental costs per quality-adjusted life year (QALY) gained from a healthcare and a societal perspective.

Results
A total of 203 adults were randomly assigned to septoplasty (N = 102) or non-surgical management (N = 101). After 12 months, the mean cost difference between septoplasty and non-surgical management using a healthcare or societal perspective was €1181 (95%CI €1038 to €1323) or €2192 per patient (95%CI €1714 to €2670), respectively. The mean QALY difference was 0.03 per patient (95%CI − 0.01 to 0.07). Incremental costs per QALY gained from a healthcare or societal perspective were €41,763 or €77,525, respectively. After 24 months, the mean cost difference between the two groups using a healthcare or societal perspective decreased to €936 (95%CI €719 to €1153) or €1671 per patient (95%CI €952 to €2390), respectively. The mean QALY difference increased to 0.05 per patient (95%CI − 0.03 to 0.14). Incremental costs per QALY gained from a healthcare or societal perspective became €17,374 or €31,024, respectively. Analyses of imputed data did not alter our findings.

Conclusions
Depending on the selected perspective, cost-effectiveness threshold, and time horizon, septoplasty has the potential to be cost-effective. Despite considerable uncertainty, septoplasty seems to be cost-effective from a healthcare perspective, after 24 months against a threshold of €20,000 per QALY. From a societal perspective, septoplasty is not yet cost-effective after 24 months, but it comes closer to the cost-effectiveness threshold as time passes by.

Trial registration
Nederlands Trial Register, NTR3868 (https://www.trialregister.nl/trial/3698). Prospectively registered on February 21, 2013.
Heme metabolism genes Downregulated in COPD Cachexia
Authors: Wilson Ava C. , Kumar Preeti L. , Lee Sool , Parker Margaret M. , Arora Itika , Morrow Jarrett D. , Wouters Emiel F. M. , Casaburi Richard , Rennard Stephen I. , Lomas David A. , Agusti Alvar , Tal-Singer Ruth , Dransfield Mark T. , Wells J. Michael , Bhatt Surya P. , Washko George , Thannickal Victor J. , Tiwari Hemant K. , Hersh Craig P. , Castaldi Peter J. , Silverman Edwin K. , McDonald Merry-Lynn N. 
Published: May 2020

Abstract
Introduction
Cachexia contributes to increased mortality and reduced quality of life in Chronic Obstructive Pulmonary Disease (COPD) and may be associated with underlying gene expression changes. Our goal was to identify differential gene expression signatures associated with COPD cachexia in current and former smokers.

Methods
We analyzed whole-blood gene expression data from participants with COPD in a discovery cohort (COPDGene, N = 400) and assessed replication (ECLIPSE, N = 114). To approximate the consensus definition using available criteria, cachexia was defined as weight-loss > 5% in the past 12 months or low body mass index (BMI) (< 20 kg/m2) and 1/3 criteria: decreased muscle strength (six-minute walk distance < 350 m), anemia (hemoglobin < 12 g/dl), and low fat-free mass index (FFMI) (< 15 kg/m2 among women and < 17 kg/m2 among men) in COPDGene. In ECLIPSE, cachexia was defined as weight-loss > 5% in the past 12 months or low BMI and 3/5 criteria: decreased muscle strength, anorexia, abnormal biochemistry (anemia or high c-reactive protein (> 5 mg/l)), fatigue, and low FFMI. Differential gene expression was assessed between cachectic and non-cachectic subjects, adjusting for age, sex, white blood cell counts, and technical covariates. Gene set enrichment analysis was performed using MSigDB.

Results
The prevalence of COPD cachexia was 13.7% in COPDGene and 7.9% in ECLIPSE. Fourteen genes were differentially downregulated in cachectic versus non-cachectic COPD patients in COPDGene (FDR < 0.05) and ECLIPSE (FDR < 0.05).

Discussion
Several replicated genes regulating heme metabolism were downregulated among participants with COPD cachexia. Impaired heme biosynthesis may contribute to cachexia development through free-iron buildup and oxidative tissue damage.
Inhibition of carrageenan-induced dental inflammatory responses owing to decreased TRPV1 activity by Dexmedetomidine
Authors: Lv Gang , Zhu Guanhua , Xu Maohua , Gao Xingping , Xiao Qingfeng 
Published: May 2020

Abstract
Background
Dexmedetomidine (Dex) is a highly selective agonist of the α2 adrenergic receptor and a common sedative; however, its anti-inflammatory effect has been studied. In this study, the inhibitory effect of Dex on inflammation in dental pulp cells was assessed. For this, the effect of Dex on inflammation induced by carrageenan (Car) in human dental pulp cells (hDPCs) was evaluated. Car incubation induced a robust inflammatory response in hDPCs as well as activation of PKA–STAT3 and PKC–nuclear factor kappa B (NF-κB) signaling pathways.

Results
Dex reduced the expression of inflammatory cytokines in a dose-dependent manner. Meanwhile, the phosphorylation of PKA, PKC, STAT3, and NF-κB as well as the nuclear accumulation of STAT3 and NF-κB were significantly increased in Dex-treated Car-induced hDPCs. Western blotting results also showed that the phosphorylation level of transient receptor potential cation channel subfamily V member 1 (TRPV1) was downregulated as a result of Dex treatment. Furthermore, we found that administration of the TRPV1 agonist capsaicin (Cap) reversed the effects of Dex on proinflammatory cytokines; however, the expression and activation of PKA–STAT3 and PKC–NF-κB signals were not altered owing to Cap administration.

Conclusions
These results indicate that Dex plays a defensive role in dental pulp inflammation by regulating the TRPV1 channel and can be used as a potential target for human dental pulp inflammation intervention.