bluuebunny/crossref_metadata_2025_split huggingface dataset:
High Prevalence Mutations in ALMS1 in Spanish Alström Patients
Authors: Mascato Brais Bea , Solarat Carlos López , Romeo Irene Perea , Jaijo Teresa , Kelly Fiona Blanco , Ayuso Carmen , Valverde Diana 
Published: July 2020

Abstract
Background:Alström syndrome (ALMS) is a rare disease with an estimated prevalence lower than 1 in 1,000,000. It is associated with mutations in the Alström syndrome 1 (ALMS1) gene, which codifies for a structural protein of the basal body and centrosomes. Symptomatology involves nystagmus, type 2 diabetes mellitus (DM2), obesity, dilated cardiomyopathy (DMC), neurodegenerative disorders and multi-organ fibrosis.Methods:We included the clinical data of 13 patients from 12 families, all of them from Spain. We studied the allelic frequency for the different mutations present in this cohort and we perform a haplotype analysis for the most prevalent allele.Results:Two alleles were detected in high frequency: p.(Tyr1714Ter) (0,25) and p.(Ser3872TyrfsTer19) (0,167). The segregation analysis of the mutation p.(Tyr1714Ter) in 3 families shows that it is linked to a rare missense polymorphism. Also, we detect an ancestral haplotype for ALMS1 in three families.Conclusion:Mutation p.(Tyr1714Ter) co-segregates with a rare single nucleotide polymorphism (SNP) that could be arise by a founder effect in the Iberian Peninsula.
A Comparative Analysis Of Once-Daily And Twice-Daily Formulation Of Tacrolimus In De Novo Kidney Transplant Recipients
Authors: Ferhatoglu Murat Ferhat , Kartal Abdulcabbar , Filiz Ali Ilker , Yildiz Gursel , Gurkan Alp 
Published: July 2020

Abstract
Objectives: Once-daily formulation of tacrolimus has begun to find a place in daily clinical practice as similar efficacy and safety profile as the twice-daily formulation according to clinical trials. However, few numbers of un-sponsored, non-trial studies are issued centering on its usage in clinical practice. We compared once-daily and twice-daily formulation of tacrolimus in terms of the efficiency and effects on graft function in de novo kidney transplant patients.Methods: Twenty once-daily (TAC-OD) and twenty twice-daily (TAC-BID) tacrolimus administrated de novo kidney recipients who had received initial immunosuppressive therapy according to protocols at our institution (0.2 mg/kg of tacrolimus combined with 1000 milligrams of steroid taper plus 720 mg of mycophenolate and with 2,5mg/kg human immune globulin) assessed in terms of demographics, drug doses and blood concentration, and graft function. Results: The mean tacrolimus blood concentration measurements were higher in the TAC-OD group in the first sixty days after transplantation, and the TAC-OD group showed more blood concentration overshoots in the first 30 days of the treatment. The initial drug dose was significantly higher in the TAC-OD group compared to the TAC-BID group (p=0.04). There was no meaningful difference among groups according to graft function (creatinine measurements) (p>0.05).Conclusion: Between de novo kidney recipients, the new TAC-OD formulation presents a similar short-term efficacy profile as TAC-BID. However, a higher daily dosage of TAC-OD is needed to achieve similar blood concentrations in the early postoperative period.
Results of Cerebrospinal Fluid Analysis in 108 Patients With Progressive Multifocal Leukoencephalopathy
Authors: Möhn Nora , Yi Luo , Skripuletz Thomas , Schwenkenbecher Philipp , Ladwig Anne , Warnke Clemens , Meuth Sven G. , Wiendl Heinz , Gross Catharina C. , Schröder Christoph , Haghikia Aiden , Stangel Martin 
Published: July 2020

Abstract
Background: Progressive multifocal leukoencephalopathy (PML) is caused by an opportunistic infection with JC polyoma virus (JCPyV) and mainly affects immunocompromised patients. It leads to pronounced demyelination of the central nervous system (CNS) resulting in severe disability or even death. Detection of JCPyV DNA in the cerebrospinal fluid (CSF) is usually accepted as proof for the diagnosis of PML. Values from routine CSF parameters, like CSF cell count, protein concentration, Qalbumin levels, or intrathecal immunoglobulin synthesis are mostly considered as normal; however, this has not been investigated systematically. Methods: We therefore analyzed those standard CSF parameters in a cohort of 108 PML patients that were treated at four different neurological centers in Germany. The patients exhibited different underlying conditions with natalizumab treatment in multiple sclerosis (n=54) and human immunodeficiency virus (HIV)-infection (n=25) being the most frequent. The data were collected at the respective centers in accordance with local requirements and then jointly analyzed. The results of the total PML cohort were compared with a control group of patients with normal pressure hydrocephalus (NPH) and idiopathic intracranial hypertension (IIH) or an HIV group without PML, respectively. Results: The PML group showed an elevated cell count (p<0.001) compared to the control group, however, this effect was mainly driven by HIV-PML patients. This subgroup also demonstrated a significantly higher proportion of patients with a disturbed blood-CSF-barrier function. Immune reconstitution syndrome (IRIS) occurred in 41/108 patients and was characterized by a trend for an increase in CSF cell count (p=0.052), CSF lactate (p=0.052), and an augmented intrathecal immunoglobulin synthesis. Conclusions: This comprehensive, retrospective study on diagnostic results in PML patients provides insight into the CSF findings in patients with PML. It demonstrates that CSF changes in PML patients may be specific for the underlying condition that predisposes for the development of PML and thus data have to be interpreted in this context.
Digestive Proteases From Fish Processing Wastes: Their Partial Characterization and Comparison
Authors: Friedman Ivana Soledad , Behrens Leonel Agustín , Pereira Nair A , Contreras Edgardo , Fernández-Gimenez Analia Verónica 
Published: July 2020

Abstract
Fish processing generates a lot of wastes which are discarded resulting in environmental problems. However, this material represents a significant source of high-value bioproducts with potential biotechnological applications. The objective of this study was to characterize and to compare specific activities of acid and alkaline proteases recovered from the viscera of Merluccius hubbsi (Mh), Percophis brasiliensis (Pb), Urophyis brasiliensis (Ub), and Cynoscion guatucupa (Cg) under different pH and temperature conditions. Stomach proteinases from four species had a higher activity at pH 2, with stability in the range of pH 2-4. Optimum pH from intestinal enzymes of Cg was 11.5, while for the crude extract of Mh, Pb, and Ub catalytic activity was registered over a wide pH range range from 7 to 11.5. Stomach proteinases from four studied species had a higher activity at 30 °C and 50 °C, with stability at 10 °C and 30 °C. Optimum temperature from intestinal enzymes of the four tested species was 50 °C with high stability at 10 °C and 30 °C. Alkaline proteinase from all species and acid proteinases from Cg was inactivated at 70ºC, while stomach enzymes of Mh, Pb, and Ub had a residual activity lower than 5% at 80 °C after 5, 10 y 20 minutes of pre-incubation, respectively. Digestive proteinases recovered in this study could be used as biocatalysts in industrial processes, reducing costs, adding value to the fishery waste, and contributing to the reduction of environmental pollution.
Persistent hypoxemic respiratory failure is associated with increased mortality, with or without the acute respiratory distress syndrome: a cohort study
Authors: Sathe Neha Alhad , Zelnick Leila R. , Mikacenic Carmen , Morrell Eric D. , Bhatraju Pavan K. , Kosamo Susanna , Hough Catherine L. , Liles W. Conrad , Wurfel Mark M. 
Published: July 2020

Abstract
Background

Identifying effective therapies in heterogeneous conditions like acute hypoxemic respiratory failure (AHRF) depends on defining sub-phenotypes with distinct prognosis or therapeutic response. Prior efforts have focused on acute respiratory distress syndrome (ARDS), although ARDS is a minority of all AHRF patients, has limited reliability in research, and is similarly heterogeneous. We propose a novel AHRF sub-phenotype called persistent hypoxemic respiratory failure (PHRF), defined by PaO2:FiO2 ratio ≤ 300 in individuals still requiring mechanical ventilation on day 3 following intubation. We hypothesized individuals with PHRF (+ PHRF) have greater mortality than individuals without PHRF (-PHRF), irrespective of ARDS (+/-ARDS).
Methods

We included mechanically ventilated AHRF patients (n = 768) from a single-center prospective cohort of medical and surgical ICU patients. We estimated the relative risk of 28-day inpatient mortality associated with + PHRF compared to -PHRF using generalized linear models. We also compared mortality and baseline log-transformed plasma biomarkers of inflammation and endothelial activation/dysfunction in + PHRF/-ARDS, -PHRF/+ARDS, and + PHRF/+ARDS compared to -PHRF/-ARDS.
Results

Cumulative incidence of + PHRF was 53% (n = 408), of whom 51% were + ARDS by ICU day 3 (n = 209). +PHRF was associated with a 1.55-fold higher risk of death (95% CI: 1.02, 2.34) compared to -PHRF, adjusting for demographics, chronic respiratory disease, and APACHE-III. Absolute mortality was higher in + PHRF/+ARDS (23%) and + PHRF/+ARDS (15%) patients than -PHRF/+ARDS (12%) and -PHRF/-ARDS (7%) patients. Interleukin-6 was 2.36-fold (95% CI: 1.47, 3.80) and 2.62-fold (1.63, 4.20) higher in + PHRF/-ARDS and + PHRF/+ARDS compared to -PHRF/-ARDS; granulocyte-colony stimulating factor was 1.96-fold (95% CI: 1.28, 3.01) and 1.82-fold (95% CI: 1.16, 2.85) higher; angiopoeitin-2 was 1.32-fold (95% CI: 1.01, 1.73) and 1.59-fold (95% CI: 1.21, 2.09) higher. In contrast, -PHRF/+ARDS patients did not have significantly different mortality or plasma biomarkers from -PHRF/-ARDS patients in adjusted models.
Conclusions

PHRF represents a common sub-phenotype of patients with AHRF, characterized by higher mortality and higher biomarkers of inflammation and endothelial dysfunction than -PHRF. PHRF captures many high-risk patients not included in current ARDS definition who may share biologic features with ARDS. Identifying patients with PHRF can support clinical prognostication and targeted trial enrollment for investigational therapies in the broad AHRF population.
A Sample-to-Answer Quantification Platform for Point-of-Care Testing of Circulating MicroRNAs Based on Allosteric Spherical Nanoprobe
Authors: Tian Huiyan , Yuan Changjing , Liu Yu , Xia Ke , Li Mengya , Xie Fengxin , Chen Qinghai , Chen Ming , Fu Weiling , Zhang Yang 
Published: July 2020

Abstract
MiRNA-150, a gene regulator that has been revealed to be abnormal expression in non-small cell lung cancer (NSCLC), can be regarded as a serum indicator for diagnosis and monitoring of NSCLC. Herein, a new sort of nanoprobe, termed allosteric spherical nanoprobe, was first developed to sense miRNA-150. Compared with conventional hairpin, this new nanoprobe possesses more enrichment capacity and reaction cross section. Structurally, it consists of magnetic nanoparticles and dual-hairpin. In the absence of miRNA-150, the spherical nanoprobes form hairpin structure through DNA self-assembly, which could promote the Förster resonance energy transfer (FRET) of fluorophore (FAM) and quencher (BHQ1) nearby. However, in the presence of target, the target-probe hybridization can open the hairpin and form the active “Y” structure which separated fluorophore and quencher to yield a “signal on” fluorescence. In the manner of multipoint fluorescence detection, the target-bound allosteric spherical nanoprobe could provide a high detection sensitivity with a linear range of 100 fM to 10 nM and a detection limit of 38 fM. More importantly, the proposed method can distinguish the expression of serum miRNA-150 among NSCLC patients and healthy people. Finally, we hoped that the potential bioanalytical application of this nanoprobe strategy will pave the way for point-of-care testing (POCT).
Putative Positive Role of Inflammatory Genes in Fat Deposition Supported by Altered Gene Expression in Purified Human Adipocytes and Preadipocytes From Lean and Obese Adipose Tissues
Authors: Lee Sang-Hyeop , Choi Nak-Hyeon , Koh In-Uk , Kim Bong-Jo , Lee Song , Kim Song-Cheol , Choi Sun Shim 
Published: July 2020

Abstract
Background
Obesity is a chronic low-grade inflammatory disease that is generally characterized by enhanced inflammation in obese adipose tissue (AT). Here, we investigated alterations in gene expression between lean and obese conditions using mRNA-Seq data derived from human purified adipocytes (ACs) and preadipocytes (preACs).
Results
Total mRNA-seq data were generated with 27 AC and 21 preAC samples purified from human visceral AT collected during resection surgery in cancer patients, where the samples were classified into lean and obese categories by BMI > 25 kg/m2. We defined four classes of differentially expressed genes (DEGs) by comparing gene expression between 1) lean and obese ACs, 2) lean and obese preACs, 3) lean ACs and lean preACs, and 4) obese ACs and obese preACs. Based on an analysis of comparison 1, numerous canonical obesity-related genes, particularly inflammatory genes including IL-6, TNF-α and IL-1β, i.e., the genes that are expected to be upregulated in obesity conditions, were found to be expressed at significantly lower levels in obese ACs than in lean ACs. In contrast, some inflammatory genes were found to be expressed at higher levels in obese preACs than lean preACs in the analysis of comparison 2. Analysis of comparisons 3 and 4 showed that inflammatory gene classes were expressed at higher levels in differentiated ACs than undifferentiated preACs under both lean and obese conditions; however, the degree of upregulation was significantly greater for lean than for obese conditions. We validated our observations using previously published microarray transcriptome data deposited in the GEO database (GSE80654).
Conclusions
Taken together, our analyses suggest that inflammatory genes are expressed at lower levels in obese ACs than in lean ACs, because lean adipogenesis involves even greater enhancement of inflammatory responses than does obese adipogenesis.
Association Between Metabolic Syndrome and Lung Function in Rural Areas in China
Authors: Wang Faxuan , Tian Di , Zhao Yi , Li Jiangping , Chen Xiyuan , Zhang Yuhong 
Published: July 2020

Abstract
Background

There remains considerable uncertainty about the association between adult metabolic syndrome (MetS) and obstructive lung disease (OLD) possibly through generalized systemic inflammation. The purpose of this study was to investigate the relationship between MetS and its components and lung function patterns.
Methods

Participants (n = 3978) were drawn from Pingluo and Qingtongxia residents at baseline from the Ningxia Cohort Study. The MetS was assessed according to the criteria of National Cholesterol Education Program III. Spirometric parameters were measured to define lung function. Through multiple linear regression and logistic regression analysis, these relationships were tested.
Results

The prevalence of obstructive lung disease (OLD) was comparable between genders (15.9% and 14.2%). The prevalence of obstructive pulmonary disease (OLD) was comparable between genders (15.9% and 14.2%), but the prevalence of MetS in males with co-existent OLD was lower than that in females (32.9% and 40.8%). After adjusting for potential confounders such as age and family income group, impaired lung function was associated with individual components of the metabolic syndrome, such as abdominal obesity, hypertension, and low HDL -C(all parameters were p < 0.05).
Conclusions

As an important component of MetS, abdominal obesity is associated with impaired lung function. Surprisingly, there is a negative correlation between HDL-C and lung function, and the presence of this relationship suggests a new understanding of the role of HDL-C.
In vitro evaluation of the antimicrobial activity of a topical skin preparation containing 0.1% polyhexanide vs a topical skin preparation containing 1% silver sulfadiazine
Authors: Schiavo G. , Falciglia D. , Maurelli S. , Riccio S. , Maglione Barbara 
Published: July 2020

Abstract
1.1 Aim: The effective in vitro antibacterial activity on Staphylococcus aureus (S.aureus), Pseudomonas aeruginosa (P.aeruginosa), Klebsiella pneumoniae (K.pneumoniae), Escherichia coli (E.Coli) and the combination of S.aureus and K. pneumoniae of a topical cream based on 0.1% polyhexanide was compared to a topical cream based on 1% silver sulfadiazine. A topical cream containing 0,1% gentamicin was used as a positive control and a white blank topical cream was used as negative control.1.2 Materials and Methods: The in vitro antibacterial activities were determined by agar well-diffusion assay. Two-way analysis of variance (ANOVA) was used to test, by calculation of P-values, for significant antiseptic activity in bacteria treated with 0,1% polyhexanide topical cream compared to 1% silver sulfadiazine and to the negative and positive controls. 1.3 Results: Among the derivatives tested, all the active topical creams analyzed were able to reduce microbial strains. The topical cream based on 0.1% polyhexanide showed a significantly higher antibacterial efficacy in comparison to the topical cream based on 1% silver sulfadiazine on S. aureus and K. pneumoniae and on the combination of S. aureus and K. pneumoniae, while no significant difference was detected between the antibacterial activity of the two topical creams against P. aeruginosa and E. coli. 1.4 Conclusion: These results provide a further insight into the antibacterial activity of polyhexanide and its non-inferiority compared to silver sulfadiazine towards certain bacterial strains (P. aeruginosa and E. coli) and superiority towards other (S. aureus and K. pneumoniae) and support the use of 0.1% Polyhexanide topical preparation for the treatment of wounds that are infected or at risk of infection.
Diagnostic accuracy of the Finnish Diabetes Risk Score (FINDRISC) for the prediction of undiagnosed type 2 diabetes, prediabetes, and metabolic syndrome in the working community of the Lebanese University (LU)
Authors: Abdallah Maher , SHARBAJI Safa , SHARBAJI Marwa , DAHER Zeina , FAOUR Tarek , MANSOUR Zeinab , HNEINO Mohammad 
Published: July 2020

Abstract
Background
Risk scores were mainly proved to predict undiagnosed type 2 diabetes mellitus (UT2DM) in a non-invasive manner and to guide earlier clinical treatment. The objective of the present study was to assess the performance of the Finnish Diabetes Risk Score (FINDRISC) for detecting three outcomes: UT2DM, prediabetes, and the metabolic syndrome (MS).
Methods
This was a prospective, cross-sectional study during which employees aged between 30 and 64, with no known diabetes and working within the faculties of the Lebanese University (LU) were conveniently recruited. Participants completed the FINDRISC questionnaire and their glucose levels were examined using both fasting blood glucose (FBG) and oral glucose tolerance tests (OGTT). Furthermore, they underwent lipid profile tests with anthropometry.
Results
Of 713 subjects, 397 subjects (55.2% female; 44.8% male) completed the blood tests and thus were considered as the sample population. 7.6% had UT2DM, 22.9% prediabetes and 35.8% had MS, where men had higher prevalence than women for these 3 outcomes (P = 0.001, P = 0.003 and P = 0.001) respectively. The AUROC value with 95% Confidence Interval (CI) for detecting UT2DM was 0.795 (0.822 in men and 0.725 in women), 0.621(0.648 in men and 0.59 in women) for prediabetes and 0.710 (0.734 in men and 0.705 in women) for MS. The correspondent optimal cut-off point for UT2DM was 11.5 (sensitivity = 83.3% and specificity = 61.3%), 9.5 for prediabetes (sensitivity = 73.6% and specificity = 43.1%) and 10.5 (sensitivity = 69.7%; specificity = 56.5%) for MS.
Conclusion
The FINDRISC can be considered a simple, quick, inexpensive, and non-invasive instrument to use in a Lebanese community of working people who are unaware of their health status and who usually report being extremely busy because of their daily hectic work for the screening of UT2DM and MS. However, it poorly screens for prediabetes in this context.
Immune responses to SARS-CoV-2 in children of parents with symptomatic COVID-19
Authors: Tosif Shidan , Neeland Melanie , Sutton Philip , Licciardi Paul , Sarkar Sohinee , Selva Kevin , Do Lien Anh Ha , Donato Celeste , Toh Zheng Quan , Higgins Rachel , de Sandt Carolien van , Lemke Melissa , Lee Christina , Shoffner Suzanne , Flanagan Katie , Arnold Kelly , Mordant Francesca , Mulholland Kim , Bines Julie , Dohle Kate , Pellicci Dan , Curtis Nigel , McNab Sarah , Steer Andrew , Saffery Richard , Subbarao Kanta , Chung Amy , Kedzierska Katherine , Burgner David , Crawford Nigel 
Published: July 2020

Abstract
Compared to adults, children with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) have mild or asymptomatic infection, but the underlying immunological differences remain unclear. We describe clinical features, virology, longitudinal cellular and cytokine immune profile, SARS-CoV-2-specific serology and salivary antibody responses in a family of two parents with PCR-confirmed symptomatic SARS-CoV-2 infection and their three children, who were repeatedly SARS-CoV-2 PCR negative. Cellular immune profiles and cytokine responses of all children were similar to their parents at all timepoints. All family members had salivary anti-SARS-CoV-2 antibodies detected, predominantly IgA, that coincided with symptom resolution in 3 of 4 symptomatic members. Plasma from both parents and one child had IgG antibody detected against the S1 protein and virus neutralising activity ranging from just detectable to robust titers. Using a systems serology approach, we show that all family members demonstrated higher levels of SARS-CoV-2-specific antibody features than healthy controls. These data indicate that children can mount an immune response to SARS-CoV-2 without virological evidence of infection. This raises the possibility that despite chronic exposure, immunity in children prevents establishment of SARS-CoV-2 infection. Relying on routine virological and serological testing may therefore not identify exposed children, with implications for epidemiological and clinical studies across the life-span.
Tracking the global reduction of marine traffic during the COVID-19 pandemic
Authors: March David , Metcalfe Kristian , Tintoré Joaquín , Godley Brendan 
Published: July 2020

Abstract
The COVID-19 pandemic has resulted in unparalleled global impacts on human mobility. In the ocean, ship-based activities are thought to have decreased due to severe restrictions and changes in goods consumption, but little is known of the patterns of change, which sectors are most affected, in which regions, and for how long. Here, we map global change of marine traffic during the COVID-19 pandemic and assess its temporal variability at a fine-scale in one of the most affected regions, the Mediterranean Sea. Nearly 44.3% of the global ocean and 77.5% of national jurisdictions showed a decrease in traffic density during April 2020, when strictest confinement measures took place, showing a clear disruption in comparison with previous trends and future projections. Decreases mainly occurred in coastal areas and were more marked and longer lasting in sectors other than cargo and tanker shipping. Our results provide guidance for large-scale monitoring of the progress and potential effects of COVID-19, or other global shocks, on the blue economy and ocean health.