bluuebunny/crossref_metadata_2025_split huggingface dataset:
Allgrove Syndrome: A Report of New Pathological Variants in the AAAS Gene
Authors: Jabbour Samir , Hamel Patrick , Soucy Jean-François , Ospina Luis H. 
Published: February 2020

Purpose:
To report 2 novel variants in the AAAS gene consistent with the diagnosis of Allgrove syndrome.

Methods:
A 12-year-old girl was referred to our clinic for progressive bilateral decrease in visual acuity. She was known for achalasia that had been surgically treated at a very early age. On examination, she was found to have dry eye disease secondary to lacrimal insufficiency. She also had anisocoria, light-near dissociation, and bilateral optic nerve atrophy.

Results:
Neurological examination and brain magnetic resonance imaging were within normal limits. Genetic workup revealed compound heterozygosity for 2 novel variants in the AAAS gene, confirming the diagnosis of Allgrove syndrome. The patient was referred to endocrinology to screen for adrenocorticotropic hormone insufficiency. She was started on topical lubricating therapy that improved her symptoms.

Conclusions:
Allgrove syndrome is a rare genetic disease that is characterized by the triad of achalasia, alacrima, and adrenal insufficiency. Early diagnosis, confirmed with genetic testing, is essential to initiate an appropriate follow-up and prevent a life-threatening addisonian crisis. Report of novel mutations is important to further characterize this disease.
Using the electronic health record for genomics research
Authors: Safarova Maya S. , Kullo Iftikhar J. 
Published: February 2020

Purpose of review
Although primarily designed for medical documentation and billing purposes, the electronic health record (EHR) has significant potential for translational research. In this article, we provide an overview of the use of the EHR for genomics research with a focus on heritable lipid disorders.

Recent findings
Linking the EHR to genomic data enables repurposing of vast phenotype data for genomic discovery. EHR data can be used to study the genetic basis of common and rare disorders, identify subphenotypes of diseases, assess pathogenicity of novel genomic variants, investigate pleiotropy, and rapidly assemble cohorts for genomic medicine clinical trials. EHR-based discovery can inform clinical practice; examples include use of polygenic risk scores for assessing disease risk and use of phenotype data to interpret rare variants. Despite limitations such as missing data, variable use of standards and poor interoperablility between disparate systems, the EHR is a powerful resource for genomic research.

Summary
When linked to genomic data, the EHR can be leveraged for genomic discovery, which in turn can inform clinical care, exemplifying the virtuous cycle of a learning healthcare system.
Cannabidiol as a treatment option for schizophrenia: recent evidence and current studies
Authors: Schoevers Julie , Leweke Judith E. , Leweke F. Markus 
Published: February 2020

Purpose of review
The most recent studies published or initiated in the last 18 months, investigating cannabidiol in the treatment of symptoms of schizophrenia and related conditions are summarized, including observed tolerability and reported side-effects.

Recent findings
Recent studies focused on patients with sub-acute psychotic syndromes of schizophrenia, clinical high-risk state for psychosis (CHR-P), or frequent cannabis users, as well as cognitive functioning in chronic schizophrenia. There is further, although not consistent evidence for cannabidiol-reducing positive symptoms, but not negative symptoms. Evidence for improvement of cognition was weaker, with one study reporting a worsening. Regarding side effects and tolerability, cannabidiol induced sedation in one study, with the other studies indicating good tolerability, even at high doses.

Summary
Recent clinical trials added further evidence for an antipsychotic potential of cannabidiol. In general, studies following trial designs as suggested by regulators in schizophrenia are needed in sufficient numbers to clarify the safety and efficacy of cannabidiol herein. In addition, such studies will further elucidate its ability to target specific aspects of the syndrome, such as negative or cognitive symptoms. Furthermore, aiming for an add-on treatment with cannabidiol will require further studies to identify potentially useful or even harmful combinations.
Effects of flow control in the presence of asymmetric inflows in twin air-intake
Authors: Rajnath Yadav Krishna Kumar , Paul Akshoy Ranjan , Jain Anuj 
Published: February 2020

Purpose
The purpose of air-intake duct used in combat aircrafts is to decelerate the inlet flow and concurrently raise the static pressure recovery at the compressor inlet. Because of side-slip movement during sharp maneuvers of the aircrafts, the airflows ingested into twin air-intake ducts are not same and symmetric at its two inlets but are asymmetric in nature. The asymmetric inlet flow conditions at the twin air-intakes thus caused instabilities and deteriorated aerodynamic performance of aircraft components such as compressors and other downstream components. This study aims to investigate the flow control in a twin air-intake with asymmetric inflows.

Design/methodology/approach
The continuity and momentum equations are solved with second-order upwind scheme for computing finite-volume method-based unsteady computational fluid dynamics simulation.

Findings
Performance parameters are deteriorated with the increase of inflow asymmetry in the twin air-intake duct. Slotted synthetic jets are used to manage flow separation, thereby increasing aerodynamic performance of the air-intake. A variety of vortical structures are generated from the rectangular slots, convected downstream of the twin air-intake. The use of slotted synthetic jets increases static pressure recovery by 64 per cent whereas reducing total pressure loss coefficient by 63 per cent, distortion coefficient by 58 per cent and swirl coefficient by 55 per cent which is an indicative of better aerodynamic performance of twin air-intake.

Originality/value
The study stresses the need of robust flow control technique to improve the performance of combat air-intake system under extreme maneuvering conditions. The results can be useful in designing air-intake satisfying the stealth features for modern combat aircrafts.
Modelling of fuel flow-rate of commercial aircraft for the climbing flight using cuckoo search algorithm
Authors: Oruc Ridvan , Baklacioglu Tolga 
Published: February 2020

Purpose
The purpose of this study is to create a new fuel flow rate model adopting cuckoo search algorithm (CSA) for the climbing phase of the flight.

Design/methodology/approach
Using the real flight data records (FDRs) of B737-800 passenger aircraft, a new fuel flow rate model for the climbing phase of the flight was developed by incorporating CSA. In the model, fuel flow rate is given as a function of altitude and true airspeed. The aim is to create a model that yields results that are closest to the real fuel flow rate values obtained from flight data records. Various error analysis methods were used to test the accuracy of the obtained values. Finally, the effect of change of some CSA parameters on the model was investigated.

Findings
It was observed that the derived model is able to predict real fuel flow rate values with high accuracy. It has been deduced that increasing the number of nest (n) and discovery rate of alien nests (pa) values of CSA parameters to a certain value gradually decreases the model’s accuracy.

Practical implications
This model is considered to be useful in air traffic management decision support systems, simulation applications, aircraft trajectory prediction models and aircraft performance modelling studies because of the high accuracy accomplished by the CSA model.

Originality/value
The originality of this study is the development of a new fuel flow rate model using CSA as a first attempt in the literature. The use of real flight data is important for the originality and reliability of the model.
Brand and firm values in distinct national cultures
Authors: Chowdhury Reza , Chun Wootae , Choi Sungchul , Friend Kurtis 
Published: February 2020

PurposeThe objective of this article is to investigate the moderating role of national cultures in the relationship between brand value and firm value.Design/methodology/approachThis article examines the topic in the context of different national cultural attributes, including individualism, uncertainty avoidance, masculinity, power distance, and long-term orientation. We use brand values of the Financial Times Global 500 companies and national cultural values reported by Hofstede, GLOBE, and Schwartz.FindingsResults exhibit that brands are more value-additive to companies in highly individualistic cultures. Furthermore, a valuable brand contributes more to firm value in countries with low uncertainty avoidance, high masculine, low power distance, and short-term oriented cultures.Originality/valueThe evidence suggests that while a valuable brand contributes to firm value, the level of its effect on firm value varies by national cultures.
Ungrateful slaves? An examination of job quality and job satisfaction for male part‐time workers in the UK
Authors: Warren Tracey , Lyonette Clare 
Published: February 2020

AbstractResearch on part‐time work has concentrated over many decades on the experiences of women but male part‐time employment is growing in the UK. This article addresses two sizable gaps in knowledge concerning male part‐timers: are men's part‐time jobs of lower quality than men's full‐time jobs? Are male part‐timers more or less job‐satisfied compared to their full‐time peers? A fundamental part of both interrogations is whether men's part‐time employment varies by occupational class. The article is motivated by the large body of work on female part‐timers. Its theoretical framework is rooted in one of the most controversial discussions in the sociology of women workers: the “grateful slave” debate that emerged in the 1990s when researchers sought to explain why so many women expressed job satisfaction with low‐quality part‐time jobs. Innovatively, this article draws upon those contentious ideas to provide new insights into male, rather than female, part‐time employment. Based upon analysis of a large quantitative data set, the results provide clear evidence of low‐quality male part‐time employment in the UK, when compared with men's full‐time jobs. Men working part‐time also express deteriorating satisfaction with jobs overall and in several specific dimensions of their jobs. Male part‐timers in lower occupational class positions retain a clear “lead” both in bad job quality and low satisfaction. The article asks whether decreasingly satisfied male part‐time workers should be termed “ungrateful slaves?” It unpacks the “grateful slave” metaphor and, after doing so, rejects its value for the ongoing analysis of part‐time jobs in the formal labor market.
Laparoscopic liver resection in cirrhotics: feasibility and short‐term outcomes compared to non‐cirrhotics
Authors: Srinivasa Sanket , Hughes Michael , Azodo Ijeoma A. , Adair Anya , Ravindran Ravi , Harrison Ewen , Wigmore Stephen J. 
Published: February 2020

AbstractBackgroundLaparoscopic liver resection (LLR) is increasingly common worldwide but its suitability in patients with cirrhosis is not clearly defined. There are minimal data in the western literature on this topic and previous work has compared LLR to open hepatectomy rather than to LLR in non‐cirrhotic patients. This study compared short‐term outcomes of LLR in cirrhotic patients to LLR in non‐cirrhotic patients.MethodsRetrospective review of minor LLR at the Royal Infirmary of Edinburgh from January 2006 to January 2018 was conducted. Patients were stratified by whether they had cirrhosis – defined as per radiological appearances and liver function tests. Variables of interest included baseline clinicopathological information with short‐term outcomes (length of stay and complications) regarded as the primary outcome of interest.ResultsOut of 1207 liver resections in the study period, there were 120 LLR with 30 patients having cirrhosis. Patients with cirrhosis were more likely to be male and have higher median American Society of Anesthesiologists scores (3 versus 2; P < 0.01). The most common operation was left lateral sectionectomy (n = 67). There was no difference in duration of surgery (cirrhosis 88 min versus no cirrhosis 99 min; P = 0.64) and patients in the cirrhosis arm had no conversions to open (0% versus 12%; P = 0.06). There was no difference in complications (12% versus 13%; P = 0.75) or median length of stay (4 versus 4 days; P = 0.14) and no difference in survival between both groups.ConclusionWith careful patient selection, LLR is feasible in patients with cirrhosis and provides comparable outcomes to non‐cirrhotic patients undergoing LLR.
Efficacy and safety of twice a day, bismuth‐containing quadruple therapy using high‐dose tetracycline and metronidazole for second‐line Helicobacter pylori eradication
Authors: Kim Ji Yeon , Lee Sun‐Young , Kim Jeong Hwan , Sung In‐Kyung , Park Hyung Seok 
Published: February 2020

AbstractBackground/AimsConventional second‐line, bismuth‐containing quadruple therapy is administered four times a day. We aimed to evaluate the efficacy and safety of twice a day administration compared to the four times a day therapy.MethodsMedical records of consecutive patients with positive 13C‐urea breath tests (UBTs) after first‐line eradication were reviewed. From December 2018 to June 2019, 100 consecutive 13C‐UBT‐positive patients received tetracycline 1 g, metronidazole 750 mg, bismuth subcitrate 300 mg, and pantoprazole 20 mg twice a day for one week. The same number of consecutive13C‐UBT‐positive patients before December 2018 was included as controls. The control group received tetracycline 500 mg and bismuth subcitrate 300 mg four times a day, metronidazole 500 mg three times a day, and pantoprazole 20 mg twice a day for one week. Eradication was confirmed based on a 13C‐UBT performed in the 5th week after taking quadruple therapy.ResultsNinety‐eight patients from the twice a day group and 99 patients from the four times a day group were analyzed. The eradication rate did not differ between the twice a day group (92/98, 93.9%) and the four times a day group (92/99, 92.9%). Adverse drug effects were found in 36 patients from the twice a day group and 50 patients from the four times a day group (P = .051). Abdominal pain, discomfort, and distention were more common with four times a day intake (13.1%) than with twice a day intake (4.1%; P = .024).ConclusionsWe determined for the first time that twice a day intake of bismuth‐containing quadruple therapy using 2 g/d of tetracycline, 1.5 g/d of metronidazole, and 600 mg/d of bismuth subcitrate for one week is effective and safe as the conventional four times a day therapy. Twice a day intake decreased abdominal pain, discomfort, and distention.
Parental Relationship Churning and Adolescent Well‐Being: Examining Instability Within Families
Authors: Turney Kristin , Halpern‐Meekin Sarah 
Published: February 2020

AbstractObjectiveThis study examines the association between parental relationship churning (i.e., the separation and reunification of one's biological parents) and adolescent well‐being.BackgroundResearch examines how instability in parental romantic relationships is linked to adolescent well‐being, but it has largely neglected instability and transitions that occur within, rather than between, relationships. Family stress and family boundary ambiguity theories suggest that adolescents from churning families will experience deleterious outcomes when compared with their counterparts in stably together families.MethodIn this article, the authors used data from the Fragile Families and Child Wellbeing Study (N = 3,327) to examine the association between parental relationship churning and adolescent socioemotional and behavioral outcomes (including internalizing behaviors, externalizing behaviors, depressive symptoms, anxiety, delinquency, and exclusionary school discipline experience).ResultsAdolescents who experience parental relationship churning between birth and age 9 had similar outcomes to their counterparts with stably together parents or parents who dissolve their union and repartner, net of demographic and socioeconomic characteristics. Adolescents who experience parental relationship churning, compared with those who experience parental union dissolution without repartnership, had more externalizing problems. The associations were similar for boys and girls.ConclusionsDifferences in adolescents' outcomes by parental relationship history were largely driven by the variation in parental characteristics. These selection factors, however, did not similarly explain all of the differences between adolescents with churning parents and adolescents who experienced union dissolution without repartnering. This underlines the potential importance of distinguishing between different types of family instability experiences.
Brain MRI Findings in Coenurosis: A Helminth Infection
Authors: Kulanthaivelu Karthik , Bhat Maya D , Prasad Chandrajit , Srinivas Dwarakanath , Mhatre Radhika , Nandeesh Bevinhalli N 
Published: February 2020

ABSTRACTBACKGROUND AND PURPOSEParasitic neuroinfections in humans have etiological agents spanning a broad spectrum from unicellular (protozoan) to multicellular helminthic (metazoan) organisms. Cerebral coenurosis is a rare cestodal helminthic infection caused by Taenia multiceps. The neuroimaging features of this entity were reviewed to discern an imaging phenotype.METHODSRetrospective analysis was performed on 6 cases of cerebral coenurosis, whose diagnoses were confirmed by histopathology. The clinical, imaging, and histopathological features were recorded for analysis.RESULTSClinical expressions included focal neurological deficit due to mass effect (n = 4), intraventricular obstruction with features of raised intracranial tension (n = 1), headache (n = 3), seizures (n = 3), and incidental lesions (n = 1). One patient presented with recurrence 1 year after surgical excision. Neuroimaging revealed cystic thin‐walled lesions with clustered eccentric internal nodules corresponding to the plenitude of protoscolices of the tapeworm. Three of the lesions showed a multilocular cystic morphology. Spectroscopic metabolite signature of alanine and succinate commensurate with the parasitic etiology was remarkable in the lesions. Enhancement and edema inversely correlated with the signal suppression on fluid‐attenuated inversion recovery (FLAIR) imaging. The lesions had a predominantly juxtacortical distribution.CONCLUSIONSIn an appropriate clinical setting, a cystic lesion with clustered eccentric internal nodular foci ought to raise the suspicion of this rare infection. Magnetic resonance spectroscopic signature of succinate and alanine, if present, further strengthens the likelihood of coenurosis. Signal characteristics, wall enhancement, and perilesional edema may vary, possibly determined by the stage in the evolution of the parasite.
Mechanical Thrombectomy for Acute Stroke: Early versus Late Time Window Outcomes
Authors: Bhan Chantal , Koehler Tracy J. , Elisevich Lee , Singer Justin , Mazaris Paul , James Elysia , Zachariah Joseph , Combs Jordan , Dejesus Michelle , Tubergen Tricia , Packard Laurel , Min Jiangyong , Wees Nabil , Khan Nadeem , Mulderink Todd , Khan Muhib 
Published: February 2020

ABSTRACTBACKGROUND AND PURPOSERecent trials have shown benefit of thrombectomy in patients selected by penumbral imaging in the late (>6 hours) window. However, the role penumbral imaging is not clear in the early (0‐6 hours) window. We sought to evaluate if time to treatment modifies the effect of endovascular reperfusion in stroke patients with evidence of salvageable tissue on CT perfusion (CTP).METHODSWe retrospectively analyzed consecutive patients who underwent thrombectomy in a single center. Demographics, comorbidities, National Institute of Health Stroke Scale (NIHSS), rtPA administration, ASPECTS, core infarct volume, onset to skin puncture time, recanalization (mTICI IIb/III), final infarct volume were compared between patients with good and poor 90‐day outcomes (mRS 0‐2 vs. 3‐6). Multivariable logistic regression analyses were used to identify independent predictors of a good (mRS 0‐2) 90‐day outcome.RESULTSA total of 235 patients were studied, out of which 52.3% were female. Univariate analysis showed that the groups (early vs. late) were balanced for age (P = .23), NIHSS (P = .63), vessel occlusion location (P = .78), initial core infarct volume (P = .15), and recanalization (mTICI IIb/III) rates (P = .22). Favorable outcome (mRS 0‐2) at 90 days (P = .30) were similar. There was a significant difference in final infarct volume (P = .04). Shift analysis did not reveal any significant difference in 90‐day outcome (P = .14). After adjustment; age (P < .001), NIHSS (P = .01), recanalization (P = .008), and final infarct volume (P < .001) were predictive of favorable outcome.CONCLUSIONSPenumbral imaging‐based selection of patients for thrombectomy is effective regardless of onset time and yields similar functional outcomes in early and late window patients.
Prevalence, risk factors, and ferritin testing to mitigate iron depletion in male plateletpheresis donors
Authors: Spencer Bryan R. , Haynes James M. , Notari Edward P. , Stramer Susan L. 
Published: February 2020

BACKGROUNDMost single‐donor platelet (SDP) donors transition to plateletpheresis after prior red blood cell (RBC) donation. Recruitment may follow identification of a high platelet count, a marker associated with iron depletion (ID). SDP donors may have underrecognized risk for iron depletion.STUDY DESIGN AND METHODSTo assess the prevalence of ID, we performed ferritin testing on male plateletpheresis donors with hemoglobin levels less than 13.5 g/dL. Multivariable logistic regression identified risk factors for low ferritin (LF; ferritin ≤26 ng/mL) and absent iron stores (AIS; ferritin <12 ng/mL). To assess the impact of notifying donors of LF results, we compared donation behavior of “Test” subjects before and after sending an LF notification letter to that of “Control” subjects before and after increasing the minimum hemoglobin for male donors. An electronic survey to Test donors inquired about iron supplementation practices.RESULTSPrevalence of LF was 50% and AIS was 23%, with increase in risk associated with more frequent SDP donation, both controlling for RBC donation and in donors with no recent RBC donations. Donation frequency after intervention declined less in 1272 Test donors (19%, from 13.9 to 11.2 annualized donations) than in 878 Control donors (49%, from 12.3 to 6.3 donations). Only 20% of Test donors reported taking supplemental iron when they received the LF letter; 64% of those not taking iron initiated iron supplementation following the letter.CONCLUSIONSDonors were responsive to notification of LF and attendant messaging on iron supplementation. Ferritin testing potentially benefits donor health and a stable platelet supply.