bluuebunny/crossref_metadata_2025_split huggingface dataset:
A Novel Homozygous Mutation in the FUCA1 Gene Highlighting Fucosidosis as a Cause of Dystonia: Case Report and Literature Review
Authors: Wali Gautam , Wali G. M. , Sue Carolyn M. , Kumar Kishore R. 
Published: May 2019

Background Fucosidosis is a rare lysosomal disorder caused by mutations in the FUCA1 gene. We describe here a novel homozygous mutation in FUCA1 in an Indian fucosidosis case. Furthermore, we summarize the clinical and genetic findings in the most recently reported individuals with fucosidosis.
Case The proband is an 8-year-old boy born to consanguineous parents. He had generalized dystonia and bilateral spasticity as well as coarse facies, dysostosis multiplex, recurrent infections, angiokeratoma corporis diffusum, and visceromegaly. Whole exome sequencing analysis detected a homozygous canonical splice variant in the FUCA1 gene [Chr1(GRCh37):g.24172346C > T; NM_000147.4:c.1261–1G > A], not previously reported as causative of a human phenotype. Low levels of α-fucosidase in patient leukocytes and a positive qualitative urine based thin layer chromatography test for fucosidosis confirmed the diagnosis. Our literature review identified 89 cases of fucosidosis since the last major review. We show that dystonia is a rare manifestation (12%) and that only a small minority of cases receive treatment with transplantation (3.37%).
Conclusion We report a novel homozygous mutation in FUCA1 as the cause of severe neurological phenotype including generalized dystonia. Early recognition of fucosidosis may be important for consideration of promising treatment options, such as bone marrow transplantation.
Is It Better to Routinely Use Tourniquet for Knee Arthroscopic Surgery: A Systematic Review and Meta-analysis
Authors: Wang Jinyou , Xu Wennan , Lv Jiayin 
Published: May 2019

AbstractThe use of tourniquet in knee arthroscopic surgery is a routine technique and provides convenience for the operation. However, the adverse effects caused by tourniquet during the operation are noticed by more and more researchers. The purpose of our study was to perform a systematic review and meta-analysis to assess the effects of tourniquet use in knee arthroscopy. Following the Preferred Reporting Items for Systematic Reviews and Meta-Analysis guidelines, we searched databases like PubMed, Cochrane library, EMBASE, and Web of Science from inception of the database up to November 20, 2018, using the keywords “ anterior cruciate ligament,” “meniscectomy,” “arthrocopy,” etc. to identify randomized clinical trials. A total of 16 randomized controlled trials involving 1,132 participants fulfilled the inclusion criteria with 582 patients in tourniquet group and 550 patients in nontourniquet group. Compared with tourniquet group, nontourniquet group had less postoperative blood loss and less consumption of analgesic. There was no significant difference between the two groups in intraoperatively arthroscopic visualization, postoperative pain score, postoperative quadriceps muscle strength, and operation time. Our study suggested that compared with tourniquet use, arthroscopic surgery of the knee without tourniquet did not appear to have any disadvantage, and the current evidence was more inclined not to use tourniquet as a routine procedure during the knee arthroscopic surgery.
The Difference between Computed Tomography and Magnetic Resonance Imaging Measurements of Tibial Tubercle–Trochlear Groove Distance for Patients with or without Patellofemoral Instability: A Systematic Review and Meta-analysis
Authors: Tan Si Heng Sharon , Lim Beatrice Ying , Chng Kiat Soon Jason , Doshi Chintan , Wong Francis K.L. , Lim Andrew Kean Seng , Hui James Hoipo 
Published: May 2019

AbstractThe tibial tubercle–trochlear groove (TT–TG) distance was originally described for computed tomography (CT) but has recently been used on magnetic resonance imaging (MRI) without sufficient evidence demonstrating its validity on MRI. The current review aims to evaluate (1) whether there is a difference in the TT–TG distances measured using CT and MRI, (2) whether both the TT–TG distances measured using CT and MRI could be used to differentiate between patients with or without patellofemoral instability, and (3) whether the same threshold of 15 to 20 mm can be applied for both TT–TG distances measured using CT and MRI. The review was conducted using the preferred reporting items for systematic reviews and meta-analyses (PRSIMA) guidelines. All studies that compared TT–TG distances either (1) between CT and MRI or (2) between patients with and without patellofemoral instability were included. A total of 23 publications were included in the review. These included a total of 3,040 patients. All publications reported the TT–TG distance to be greater in patients with patellofemoral instability as compared to those without patellofemoral instability. This difference was noted for both TT–TG distances measured on CT and on MRI. All publications also reported the TT–TG distance measured on CT to be greater than that measured on MRI (mean difference [MD] = 1.79 mm; 95% confidence interval [CI]: 0.91–2.68). Pooling of the studies revealed that the mean TT–TG distance for the control group was 12.85 mm (95% CI: 11.71–14.01) while the mean TT–TG distance for patients with patellofemoral instability was 18.33 mm (95% CI: 17.04–19.62) when measured on CT. When measured on MRI, the mean TT–TG distance for the control group was 9.83 mm (95% CI: 9.11–10.54), while the mean TT–TG distance for patients with patellofemoral instability was 15.33 mm (95% CI: 14.24–16.42). Both the TTTG distances measured on CT and MRI could be used to differentiate between patients with and without patellofemoral instability. Patients with patellofemoral instability had significantly greater TT–TG distances than those without. However, the TT–TG distances measured on CT were significantly greater than that measured on MRI. Different cut-off values should, therefore, be used for TT–TG distances measured on CT and on MRI in the determination of normal versus abnormal values. Pooling of all the patients included in the review then suggest for 15.5 ± 1.5 mm to be used as the cut off for TT–TG distance measured on CT, and for 12.5 ± 2 mm to be used as the cut-off for TT–TG distance measured on MRI. The Level of evidence for this study is IV.
Impact of Tourniquet Use on Systemic Inflammatory Parameters, Functional Physical Recovery, and Cardiovascular Outcomes of Patients Undergoing Knee Arthroplasty: A Case-Control Study
Authors: Bressi Edoardo , Longo Umile Giuseppe , Mangiacapra Fabio , Candela Vincenzo , Berton Alessandra , Salvatore Giuseppe , Capuano Marialessia , Proietti Riccardo , Denaro Vincenzo 
Published: May 2019

AbstractThe benefits of tourniquet use during orthopaedic surgery are controversial. We aim to investigate its effects on systemic inflammation, functional physical recovery, and cardiovascular complications of patients undergoing knee arthroplasty. We enrolled 129 consecutive patients (57 treated with tourniquet vs. 72 in the control group) undergoing total unilateral knee arthroplasty, followed by inpatient rehabilitation protocol at our institution. Blood samples were drawn in all patients at baseline and within 24 hours after surgery for complete blood cell count assessment. Neutrophil-to-lymphocyte ratio (NLR) and platelet-to-lymphocyte ratio (PLR) were calculated as the ratio between the absolute number of neutrophil and platelets over the absolute number of lymphocytes, respectively. The numeric rating scale (NRS; 0–10) assessed the current pain, day after the surgery. All subjects underwent physical functional evaluation measured by the modified Barthel's index (MBI) at the end of the rehabilitation. We also recorded the incidence of major bleeding, typical angina, and occurrence of atrial fibrillation after surgery. In the overall population, a significant postprocedural increase in NLR and PLR was observed (p < 0.001). Baseline NLR and PLR were similar in patients with and without tourniquet (1.5 ± 0.8 vs. 1.95 ± 1.2, p = 0.081; 120 ± 42 vs. 131 ± 55, p = 0.240); however, patients treated with tourniquet showed significantly lower NLR at 24 hours (6.1 ± 3.6 vs. 8.1 ± 5.7, p = 0.043). NRS scores were significantly higher in the tourniquet group without compromising functional and physical recovery whereas no significant differences were appreciated in MBI scores between the two groups. Moreover, the rates of postoperative atrial fibrillation (1 [2%] vs. 9 [12%], p = 0.042) and major bleeding (2 [4%] vs. 11 [15%], p = 0.038) were significantly lower in the tourniquet group. Tourniquet seems a useful tool which is able to mitigate the inflammatory activation and prevent the occurrence of atrial fibrillation and major bleeding without altering functional physical recovery of patients undergoing total knee arthroplasty.
Heat stress directly impairs gut integrity and recruits distinct immune cell populations into the bovine intestine
Authors: Koch Franziska , Thom Ulrike , Albrecht Elke , Weikard Rosemarie , Nolte Wietje , Kuhla Björn , Kuehn Christa 
Published: May 2019

Significance
Consequences of heat stress, particularly for the immune system and the intestinal health of mammals, are a topic of increasing global relevance due to rising temperatures and potential health impairments. Specific climate effects, however, are often difficult to discriminate from indirect consequences, e.g. reduced feed intake. Our study in dairy cattle, which are particularly sensitive to heat, identifies the infiltration of the small intestinal epithelium by a previously unobserved distinct cell population with macrophage-like phenotype in response to moderate heat stress. By using a pair-feeding design, we attributed these effects as direct consequences of heat stress via impaired intestinal barrier function. Therefore, an appropriate gut function is an important component in combating the negative consequences of heat stress.
Chemical evidence for the use of multiple psychotropic plants in a 1,000-year-old ritual bundle from South America
Authors: Miller Melanie J. , Albarracin-Jordan Juan , Moore Christine , Capriles José M. 
Published: May 2019

Significance
Humans have a long history of using natural resources, especially plants, to induce nonordinary states of consciousness. Imbibing substances derived from plants have been linked to ancient and elaborate knowledge systems and rituals. While archaeological evidence of the consumption of psychotropics, such as alcohol or caffeine, dates back thousands of years, evidence of the use of other psychoactive substances has been more difficult to document. This article presents the results of chemical analyses of organic residues found in a 1,000-year-old ritual bundle recovered from the highland Andes. The analyses provide evidence of the use of multiple psychoactive plants associated with a sophisticated botanical knowledge system among ritual specialists (shamans) during pre-Columbian times.
Heterogeneity in refractory acute myeloid leukemia
Authors: Horibata Sachi , Gui Gege , Lack Justin , DeStefano Christin B. , Gottesman Michael M. , Hourigan Christopher S. 
Published: May 2019

Significance
Acute myeloid leukemia (AML) is the name given to a diverse set of highly fatal blood cancers. The typical initial treatment is combination cytotoxic chemotherapy with at least two drugs: 7 days of cytarabine with 3 days of an anthracycline. As treatment at initial diagnosis is often given emergently, there is a great need for pretreatment markers capable of identifying patients for whom standard treatment is likely to be suboptimal. This work uses RNA-sequencing analysis of a diverse cohort of highly annotated AML patient samples to demonstrate heterogeneity among those patients not responding to standard chemotherapy, then uses this information both to develop a prognostic classifier for survival and to suggest potentially superior therapeutic approaches for those at highest risk.
Wnt canonical pathway activates macropinocytosis and lysosomal degradation of extracellular proteins
Authors: Tejeda-Muñoz Nydia , Albrecht Lauren V. , Bui Maggie H. , De Robertis Edward M. 
Published: May 2019

SignificanceThere is a critical need for new drugs targeting Wnt-driven diseases. For example, 80% of colorectal cancers are initiated by Wnt-activating APC mutations which then require multiple additional mutations to progress into invasive cancer. Here we present cell biological studies showing that Wnt pathway activation, or mutation of the tumor suppressors APC or Axin, greatly increased macropinocytosis. In the presence of Wnt, membrane ruffles at the plasma membrane engulfed large volumes of extracellular fluids which were channeled for degradation in lysosomes. The experiments suggest that inhibition of multivesicular body formation, methylation, or the Na+/H+exchanger, may help prevent Wnt-driven cancer progression.
The DESI Fiber View Camera System
Authors: Baltay C. , Rabinowitz D. , Besuner R. , Casetti D. , Emmet W. , Fagrelius P. , Girard T. , Heetderks H. , Lampton M. , Lathem A. , Levi M. , Padmanabhan N. , Silber J. 
Published: May 2019

Abstract
The Dark Energy Spectroscopic Instrument (DESI) is a 5000 fiber multi-object spectrometer now being installed at the prime focus of the 4 m Mayall telescope at Kitt Peak. Using DESI to measure ∼35 million galaxy redshifts and using the Baryon Acoustic Oscillation (BAO) technique to measure distances, the results will probe the nature of the recently discovered mysterious component of our universe called dark energy. Computer controlled robotic positioners move the 120 μm diameter fibers to positions of galaxies whose location on the sky have been obtained in a previous target selection imaging survey. To achieve good throughput the fibers should be centered on the target position to within 3 μm. The robotic positioners however are only capable of a 50 μm precision on their first move. To achieve the desired precision, the Fiber View Camera (FVC) system has been implemented. The FVC, located near the hole in the primary mirror of the Mayall telescope, has been designed to take an exposure of the focal plane, located at the prime focus some 12 m above the FVC, after the robotic positioners have completed their first move. The FVC is intended to measure the fiber locations with a precision of 3 μm and issue a set of fiber coordinate corrections for the second move correcting the fiber positions by the robotic positioners. Tests show that after two iterations better than 99% of the fibers will be in their intended location to within the desired precision. This paper describes the design of the FVC system, the R&D program preceding the final design, and the tests that have been carried out to demonstrate that the FVC can achieve the required precision.
Myocardial injury after non-cardiac surgery: diagnosis and management
Authors: Devereaux P J , Szczeklik Wojciech 
Published: May 2019

Abstract
Myocardial injury after non-cardiac surgery (MINS) is due to myocardial ischaemia (i.e. supply-demand mismatch or thrombus) and is associated with an increased risk of mortality and major vascular complications at 30 days and up to 2 years after non-cardiac surgery. The diagnostic criteria for MINS includes an elevated post-operative troponin measurement judged as resulting from myocardial ischaemia (i.e. no evidence of a non-ischaemic aetiology), during or within 30 days after non-cardiac surgery, and without the requirement of an ischaemic feature (e.g. ischaemic symptom, ischaemic electrocardiography finding). For patients with MINS who are not at high risk of bleeding, physicians should consider initiating dabigatran 110 mg twice daily and low-dose aspirin. Physicians should also consider initiating statin therapy in patients with MINS. Most MINS patients should only be referred to cardiac catheterization if they demonstrate recurrent instability (e.g. cardiac ischaemia, heart failure). Patients ≥65 years of age or with known atherosclerotic disease should have troponin measurements on days 1, 2, and 3 after surgery while the patient is in hospital to avoid missing &gt;90% of MINS and the opportunity to initiate secondary prophylactic measures and follow-up.
Challenging Unwritten Measures in the World Trade Organization: The Need for Clear Legal Standards
Authors: Valles Cherise , Pogoretskyy Vitaliy , Yanguas Tatiana 
Published: May 2019

ABSTRACT
Disputes in the World Trade Organization (WTO) involving the challenge of unwritten measures have increased in recent years. This trend may have been encouraged by the successful challenge of Argentina’s ‘managed trade policy’ as an ‘overarching unwritten measure’ in Argentina—Import Measures. Advancing a claim against an unwritten measure, however, is not an easy undertaking. These measures are not embodied in any law, administrative regulation or judicial decision. Their very existence and precise contours are, therefore, uncertain and must be proven with evidence, which may not necessarily be readily available. The uncertain nature of unwritten measures makes the dispute settlement process significantly more complicated for the complainant, the respondent and the WTO adjudicators. Despite the difficulties in challenging, defending and adjudicating unwritten measures, relatively little has been written on this subject. This article discusses the types of trade concerns that could be challenged as ‘unwritten measures’, and the different legal characterizations (analytical tools) that have been used to challenge these trade concerns in the WTO. The article further explores the practical difficulties that have been encountered in challenges against unwritten measures and how these difficulties have sometimes, but not always, been overcome. The article concludes that there is a lack of clarity as to the correct legal standard that must be applied in the challenge of different types of unwritten measures. There is more work to be done to clarify the applicable legal standards and the types of evidence required to substantiate the existence of unwritten measures.
De Garengeot’s hernia with appendicitis—a rare cause of an acutely painful groin swelling
Authors: O’Connor Adam , Asaad Peter 
Published: May 2019

Abstract
De Garengeot hernia is a rare subtype of femoral hernia whereby the vermiform appendix is located within the hernial sac. Even rarer is the presence of appendicitis within the hernia sac. De Garengeot’s hernia is difficult to diagnose pre-operatively and can prove technically difficult at operation particularly with regards to mobilization of the caecum and appendix in order to perform appendicectomy. Laparoscopic, open, with and without mesh repair of de Garengeot hernia have all been described in the literature with varying degrees of success. We present a case of an 82 year old lady presenting with an acutely painful right sided groin lump. CT scan revealed the presence of de Garengeot hernia with acute appendicitis. We describe in text and photo format our approach to the hernia repair, appendicectomy and provide a short review of the literature with regards to the different operative approaches to such a patient.
No Clinical Benefit to Treating Male Urinary Tract Infection Longer Than Seven Days: An Outpatient Database Study
Authors: Germanos George J , Trautner Barbara W , Zoorob Roger J , Salemi Jason L , Drekonja Dimitri , Gupta Kalpana , Grigoryan Larissa 
Published: May 2019

Abstract

Background
The optimal approach for treating outpatient male urinary tract infections (UTIs) is unclear. We studied the current management of male UTI in private outpatient clinics, and we evaluated antibiotic choice, treatment duration, and the outcome of recurrence of UTI.

Methods
Visits for all male patients 18 years of age and older during 2011–2015 with International Classification of Diseases, Ninth Revision, Clinical Modification codes for UTI or associated symptoms were extracted from the EPIC Clarity Database of 2 family medicine, 2 urology, and 1 internal medicine clinics. For eligible visits in which an antibiotic was prescribed, we extracted data on the antibiotic used, treatment duration, recurrent UTI episodes, and patient medical and surgical history.

Results
A total of 637 visits were included for 573 unique patients (mean age 53.7 [±16.7 years]). Fluoroquinolones were the most commonly prescribed antibiotics (69.7%), followed by trimethoprim-sulfamethoxazole (21.2%), nitrofurantoin (5.3%), and beta-lactams (3.8%). Antibiotic choice was not associated with UTI recurrence. In the overall cohort, longer treatment duration was not significantly associated with UTI recurrence (odds ratio [OR] = 1.95; 95% confidence interval [CI], 0.91–4.21). Longer treatment was associated with increased recurrence after excluding men with urologic abnormalities, immunocompromising conditions, prostatitis, pyelonephritis, nephrolithiasis, and benign prostatic hyperplasia (OR = 2.62; 95% CI, 1.04–6.61).

Conclusions
Our study adds evidence that men with UTI without evidence of complicating conditions do not need to be treated for longer than 7 days. Shorter duration of treatment was not associated with increased risk of recurrence. Shorter treatment durations for many infections, including UTI, are becoming more attractive to reduce the risk of resistance, adverse events, and costs.
Climate, Ecology and History in North America’s Tallgrass Prairie Borderlands*
Authors: Morrissey Robert Michael 
Published: May 2019

Abstract
In the late 1600s, one of the largest population centres in North America — the so‐called Grand Village of the Kaskaskias in the upper Illinois River Valley — suddenly dissolved as various factions among its indigenous inhabitants split apart. While historians have often explained the resulting migrations as a response to the beginnings of colonial history in this region, this article argues that a greater factor may have been climate change. The region of the Illinois Valley was one of the most important ecological transition zones in North America, a biome-scale ecotone between the grasslands of the West and the woodlands of the East. New studies suggest that a major drought in this period had a drastic effect on the special ecological mosaic here, causing interruptions in dynamic ecosystem processes which likely impacted indigenous ways of life. This article provides not only a better understanding for one of the most consequential turning points in late seventeenth-century North American indigenous history, but also a model of the potential benefits of bringing ethnohistory, deep history, climate history and ecology together in a single cross-disciplinary narrative.