bluuebunny/crossref_metadata_2025_split huggingface dataset:
The role of the fractional flow reserve in the coronary steal phenomenon evaluation caused by the coronary-pulmonary fistulas: case report and review of the literature
Authors: Huang Zhiwei , Liu Zhihong , Ye Shaodong 
Published: February 2020

Abstract
Background
Congenital coronary-pulmonary fistulas (CPFs) are commonly unilateral; however, bilateral and multilateral fistulas are relatively rare. The steal phenomenon aroused from bilateral or multilateral CPFs, and was uncertain and seldom reported. We possess a new tool to assess the hemodynamic significance of coronary artery fistulas. This study aimed to describe the clinical presentation, diagnostic modalities, and management of the coincidentally detected congenital bilateral CPFs.

Case presentation
A case of a 52 year-old female with 10 years history of typical palpitations and chest tightness was presented. The selective coronary arteriography showed a right dominant coronary circulation without significant stenosis; however, with anomalous vessels originating from the proximal right and left anterior descending coronary arteries, draining into the pulmonary artery through a plexus of small vessels. We introduced the fractional flow reserve (FFR) to evaluate the hemodynamic significance of CPFs. The patient was successfully treated with coil embolization.

Conclusions
We presented the case of a female with typical palpitations and chest tightness due to the steal phenomenon that aroused from bilateral CPFs. The fistulas were safely and successfully closed by coil embolization. We showed a new tool for the sophisticated evaluation of the hemodynamic significance of CPFs using FFR measurement and temporary occlusion of the fistula with a standard balloon. FFR could be a promising means for the treatment of decision making of the CPFs.
Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns
Authors: Chien Yin-Hsiu , Lee Ni-Chung , Chen Pin-Wen , Yeh Hui-Ying , Gelb Michael H. , Chiu Pao-Chin , Chu Shao-Yin , Lee Chen-Hao , Lee An-Ru , Hwu Wuh-Liang 
Published: February 2020

Abstract
Background
The necessity of early treatment for lysosomal storage diseases (LSDs) has triggered the development of newborn screening for LSDs in recent years. Here we report the first 70,000 newborns screened for Mucopolysaccharidosis (MPS) type 4A (Morquio syndrome) and other LSDs by an 8-plex assay including the original 4-plex LSD screening tandem mass spectrometry (MS/MS) assay for Pompe disease, Fabry disease, Gaucher disease, and MPS I disease.

Methods
The additional reaction for MPS II, MPS 3B, MPS 4A, and MPS 6 enzymes was performed separately from the 4-plex reaction. The two reactions were quenched and extracted, then combined before carrying out a single 2-min UPLC-MS/MS analysis.

Results
From Mar. 2018 to Apr. 2019, 73,743 newborns were screened with the 8-plex LSD screening assay. The 8-plex assay revealed a better analytical precision than the previous 4-plex assay possibly because the 8-plex was carried out using UPLC-MS/MS. Six newborns were found to have low MPS-4A enzyme (N-acetylgalactosamine-6-sulfatase) activity and biallelic GALNS pathogenic mutations in trans; these patients are presumably affected with MPS4A, making an incidence of one in 12,291 (95% confident interval (CI): 5633-26,817). One mutation, c.857C > T (p.T286 M) of the GALNS gene, accounted 5 of the 12 mutated alleles. These newborns had immature vertebral bodies at 1 month of age, and one case was treated with elosulfase alfa 2 mg/kg/week starting from 4 months of age. Among other MPSs screened, one case of MPS I, 3 cases of MPS II, and 3 cases of MPS 3B were detected. One case of mucolipidosis type III was also diagnosed. In conjunction with another 9 patients of Pompe disease, Gaucher disease, and classical Fabry disease, making an incidence of LSDs as one in 3206 newborns (95% CI: 2137 - 4811). The one with infantile-onset Pompe disease and the one with Gaucher disease were treated since the age of 8 days and 41 days respectively.

Conclusions
Routine newborn screening of MPS 4A and other LSDs were made possible by the 8-plex LSD screening assay. However, detailed phenotype prediction and the time to start treatment will need further elucidation.
Acute dacryocystitis with giant lacrimal abscess: a case report
Authors: Di Cicco Maria , Bellino Elisabetta Maria , Marabotti Andrea , Luti Laura , Peroni Diego G. , Baroncelli Giampiero I. 
Published: February 2020

AbstractBackgroundWe report a case of a 4-year-old girl with acute dacryocystitis complicated with giant lacrimal abscess who underwent open dacryocystectomy as resolutive surgery.Case presentationA 4-year-old previously healthy girl presented to the emergency department with a voluminous and erythematous, fluctuant warm mass localized inferiorly to the medial canthus of the right eye. She had a 2-week history of right inferior eyelid oedema and hyperemia, treated firstly with dexamethasone and netilmicin by eye drops, and then with per oral amoxicillin clavulanate. Ultrasound examination showed a well-circumscribed round lesion filled by anechoic fluid with punctate echoes, confirming a diagnosis of acute dacryocystitis complicated by lacrimal abscess. Parents refused a head CT. Systemic antibiotic treatment was started and, on 5th day from admission, open dacryocystectomy was performed with good esthetical result.ConclusionsPediatric acute dacryocystitis is a potentially serious condition, which must be treated with intravenous antibiotic therapy followed by surgery tailored to the clinical history. Even if probing and dacryocystorhinostomy are the most used surgery in adults and children, open dacryocystectomy is a safe and successful option, mainly in severe cases where imaging studies are not available.
Analgosedation for diagnostic and interventional procedures: a countrywide survey of pediatric centers in Germany
Authors: Sauer Harald , Lobenhofer Marie , Abdul-Khaliq Hashim 
Published: February 2020

Abstract
Background
As more and more diagnostic and interventional options are becoming available for use in pediatric patients, techniques of procedural sedation analgesia (PSA) are being administered in considerably growing numbers as well.

Aims
The objective of this research effort was to conduct the first countrywide survey on the status quo of sedation analgesia as delivered to children and adolescents in Germany.

Methods
We dispatched letters to all pediatric hospital settings in Germany (n = 305), including a questionnaire that had been developed with existing guidelines taken into account. Its items were designed to elucidate the current practice of PSA throughout these pediatric centers regarding (a) organizational structures and (b) standards of medication and staffing.

Results
A total of 138 centers returned the questionnaire, hence the response rate was 45.2%. Numerous centers had implemented adequate structures and staffing standards. Deficits were nevertheless identified, most notably in terms of on-location equipment and staff provided to deliver sedations. Essential items of equipment were not provided in up to 26.8% of centers. Adequate staffing was not provided in up to 44.2% of centers, depending on the diagnostic or interventional procedures for which the PSA was delivered. The most widely used sedative agents were midazolam, ketamine/esketamine, and propofol.

Conclusions
Adequate care structures for the management of procedural sedation analgesia have been implemented by many pediatric centers in Germany. On the downside, these findings also reveal deficits that will take efforts to be eliminated.
Eco-friendly approach to access of quinoxaline derivatives using nanostructured pyrophosphate Na2PdP2O7 as a new, efficient and reusable heterogeneous catalyst
Authors: Dânoun Karim , Essamlali Younes , Amadine Othmane , Mahi Hassan , Zahouily Mohamed 
Published: February 2020

AbstractIn the present study, we report the synthesis of various quinoxaline derivatives from direct condensation of substituted aromatic 1,2-diamine with 1,2-dicarbonyl catalyzed by nanostructured pyrophosphate Na2PdP2O7 as a new highly efficient bifunctionalheterogeneous catalyst. The quinoxaline synthesis was performed in ethanol as a green and suitable solvent at ambient temperature to afford the desired quinoxalines with good to excellent yields in shorter reaction times. Many Quinoxaline derivatives were successfully synthesized using various 1,2-diketones and 1,2-diamines at room temperature. Catalyst reusability showed that the Na2PdP2O7 catalyst exhibited excellent recyclability without significant loss in its catalytic activity after five consecutive cycles.
Integration of wastewater treatment into process design of lignocellulosic biorefineries for improved economic viability
Authors: Tobin Tyler , Gustafson Rick , Bura Renata , Gough Heidi L. 
Published: February 2020

Abstract
Background
Production and use of bio-based products offer advantages over conventional petrochemicals, yet the relatively high cost of production has restricted their mainstream adoption. Optimization of wastewater treatment processes could reduce capital expenditures, lowering the barrier to market entry for lignocellulosic biorefineries. This paper characterizes wastewater associated with lignocellulosic ethanol production and evaluates potential wastewater treatment operations.

Results
It is found that organic material is intrinsic to bioconversion wastewater, representing up to 260 kg of biological oxygen demand per tonne of feedstock processed. Inorganics in the wastewater largely originate from additions during pretreatment and pH adjustments, which increase the inorganic loading by 44 kg per tonne of feedstock processed. Adjusting the ethanol production process to decrease addition of inorganic material could reduce the demands and therefore cost of waste treatment. Various waste treatment technologies—including those that take advantage of ecosystem services provided by feedstock production—were compared in terms of capital and operating costs, as well as technical feasibility.

Conclusions
It is concluded that wastewater treatment technologies should be better integrated with conversion process design and feedstock production. Efforts to recycle resources throughout the biofuel supply chain through application of ecosystem services provided by adjacent feedstock plantations and recovery of resources from the waste stream to reduce overall capital and operating costs of bioconversion facilities.
Evaluation of short training session for venous limited compression ultrasonography: prospective multicenter study
Authors:   Winfocus-France Study Group, Javaudin François , Seon Julie , Le Bastard Quentin , Cabiot Astrid , Pes Philippe , Arnaudet Idriss , Allain Milena , Le Conte Philippe 
Published: February 2020

Abstract
Background
Venous limited compression ultrasonography (VLCU) is recommended in case of suspicion of deep venous thrombosis (DVT). Current training pathways are rather long and include experiential phase. This aim of this study was to investigate the efficacy of a short training session for VLCU without experiential phase. The training session was applied in residents without previous ultrasound skills. Program included operation of ultrasound device and interpretation of venous images. Included patients were older than 18 years and had a suspicion of DVT. After realization of VLCU using usual technique, residents reported the dynamic compressibility of the femoral and popliteal veins, the presence or not of a visible thrombus, self-reported difficulty and duration. Patients then underwent a whole leg ultrasonography (WLCU) in the local laboratory which was blinded to VLCU results. The main criterion was the negative-predictive value (NPV) of VLCU for the absence of proximal DVT diagnosed with WLCU. Secondary criteria were VLCU diagnostic performances, rate of inability to conclude, difficulty and duration. For a NPV of 95 ± 6%, the needed number of patients was 96. This study was approved by the ethical committee.

Results
102 patients were analyzed. 46 residents were trained. A DVT was diagnosed by WLCU in 18 patients (prevalence of 17.6% [95% CI 11–26%]). VLCU detected 15 DVT (NPV of 96% [95% CI 89–99%]). The positive likelihood ratio was 9.9, the negative likelihood ratio 0.19 and Cohen’s Kappa 0.62 [95% CI 0.52–0.71]. The sensitivity was 83% [CI 95% 60–94%] and specificity 88% [CI 95% 79–93%]. The mean number of VLCU by residents was 2.3 ± 2.1, median 2 (minimum 1, maximum 8). Mean duration was 3.4 min, difficulty was 3.7 ± 2.

Conclusion
The principal objective, NPV 96% [95% CI 89–99%], was achieved. However, this short training session was inadequate to allow ruling-out a DVT with sufficient security. Thus, the experiential phase seems to be essential.
Comprehensive analysis of PM20D1 QTL in Alzheimer’s disease
Authors: Sanchez-Mut Jose Vicente , Glauser Liliane , Monk David , Gräff Johannes 
Published: February 2020

Abstract
Background
Alzheimer’s disease (AD) is a complex disorder caused by a combination of genetic and non-genetic risk factors. In addition, an increasing evidence suggests that epigenetic mechanisms also accompany AD. Genetic and epigenetic factors are not independent, but multiple loci show genetic-epigenetic interactions, the so-called quantitative trait loci (QTLs). Recently, we identified the first QTL association with AD, namely Peptidase M20 Domain Containing 1 (PM20D1). We observed that PM20D1 DNA methylation, RNA expression, and genetic background are correlated and, in turn, associated with AD. We provided mechanistic insights for these correlations and had shown that by genetically increasing and decreasing PM20D1 levels, AD-related pathologies were decreased and accelerated, respectively. However, since the PM20D1 QTL region encompasses also other genes, namely Nuclear Casein Kinase and Cyclin Dependent Kinase Substrate 1 (NUCKS1); RAB7, member RAS oncogene family-like 1 (RAB7L1); and Solute Carrier Family 41 Member 1 (SLC41A1), we investigated whether these genes might also contribute to the described AD association.

Results
Here, we report a comprehensive analysis of these QTL genes using a repertoire of in silico methods as well as in vivo and in vitro experimental approaches. First, we analyzed publicly available databases to pinpoint the major QTL correlations. Then, we validated these correlations using a well-characterized set of samples and locus-specific approaches—i.e., Sanger sequencing for the genotype, cloning/sequencing and pyrosequencing for the DNA methylation, and allele-specific and real-time PCR for the RNA expression. Finally, we defined the functional relevance of the observed alterations in the context of AD in vitro. Using this approach, we show that only PM20D1 DNA methylation and expression are significantly correlated with the AD-risk associated background. We find that the expression of SLC41A1 and PM20D1—but not NUCKS1 and RAB7L1—is increased in mouse models and human samples of AD, respectively. However, SLC41A1 and PM20D1 are differentially regulated by AD-related stressors, with only PM20D1 being upregulated by amyloid-β and reactive oxygen species, and with only PM20D1 being neuroprotective when overexpressed in cell and primary cultures.

Conclusions
Our findings reinforce PM20D1 as the most likely gene responsible of the previously reported PM20D1 QTL association with AD.
3-D printing model used to streamline surgical procedures for an intricate condition of airway compression caused by devastating mediastinal chondrosarcoma: a case report
Authors: Shai Sen-Ei , Lai Yi-Ling , Li Hsin-Ni , Hung Shih-Chieh 
Published: February 2020

Abstract
Background
The condition of mediastinal chondrosarcoma causing severe airway compression has never been reported before, and its complexity makes its surgical management challenging. We implemented two new techniques to overcome this problem. Creative mockup analogy of a distorted trachea and tumor lesion using a 3-D printing module, with reprogramming by computed tomography, streamlined the panorama with intricate correlation.

Case presentation
Our patient was a previously healthy 52-year-old slender yellow man who had no obvious medical history. In the last 3 years, upper respiratory tract infection and productive cough were noted frequently, and the patient’s symptoms were aggravated with shortness of breath when his head was positioned below 90 degrees during squatting and hunching of the body. The patient manifested prone sleep with ashen complexion, and he had lost 3–4 kg of body weight over the 3 weeks before admission to our hospital. Virtual bronchoscopy with computed tomography revealed an 8.3 × 7.5 × 4-cm lobulated right upper mediastinal mass with amorphous calcification and severe, intricate airway compression. A creative mockup analogy module of the distorted trachea and tumor was generated by 3-D printing and reprogrammed by computed tomography to streamline the sophisticated correlation. The patient underwent a two-stage operation comprising stabilization of the airway for innovative T-tube insertion preceded by thoracoscopy-assisted radical removal of the tumor. Postoperative adjuvant radiotherapy was administered. The patient recovered uneventfully and stayed healthy for 2 solid years in follow-up.

Conclusions
An advanced 3-D printing model provides affirmative information related to treatment strategy and is also a prospective tool for better doctor–patient communication regarding the disease.
Rapid generation of purified human RPE from pluripotent stem cells using 2D cultures and lipoprotein uptake-based sorting
Authors: Michelet Fabio , Balasankar Aishwarya , Teo Nickolas , Stanton Lawrence W. , Singhal Shweta 
Published: February 2020

Abstract
Background
Despite increasing demand, current protocols for human pluripotent stem cell (hPSC)-derived retinal pigment epithelium (RPE) remain time, labor, and cost intensive. Additionally, absence of robust methods for selective RPE purification and removal of non-RPE cell impurities prevents upscaling of clinical quality RPE production. We aimed to address these challenges by developing a simplified hPSC-derived RPE production and purification system that yields high-quality RPE monolayers within 90 days.

Methods
Human pluripotent stem cells were differentiated into RPE using an innovative time and cost-effective protocol relying entirely on 2D cultures and minimal use of cytokines. Once RPE identity was obtained, cells were transferred onto permeable membranes to acquire mature RPE morphology. RPE differentiation was verified by electron microscopy, polarized VEGF expression, establishment of high transepithelial electrical resistance and photoreceptor phagocytosis assay. After 4 weeks on permeable membranes, RPE cell cultures were incubated with Dil-AcLDL (DiI-conjugated acetylated low-density lipoproteins) and subjected to fluorescence-activated cell sorting (FACS) for purification and subculture.

Results
Using our 2D cytokine scarce protocol, hPSC-derived functional RPE cells can be obtained within 2 months. Nevertheless, at this stage, most samples contain a percentage of non-RPE/early RPE progenitor cells that make them unsuitable for clinical application. We demonstrate that functional RPE cells express high levels of lipoprotein receptors and that this correlates with their ability to uptake lipoproteins. Combining photoreceptor uptake assay with lipoprotein uptake assay further confirms that only functional RPE cells uptake AcLDL. Incubation of mixed RPE/non-RPE cell cultures with fluorophore conjugated AcLDL and subsequent FACS-based isolation of labeled cells allows selective purification of mature functional RPE. When subcultured, DiI-AcLDL-labeled cells rapidly form pure homogenous high-quality RPE monolayers.

Conclusions
Pure functional RPE monolayers can be derived from hPSC within 90 days using simplified 2D cultures in conjunction with our RPE PLUS protocol (RPE Purification by Lipoprotein Uptake-based Sorting). The simplicity of this protocol makes it scalable, and the rapidity of production and purification allows for high-quality RPE to be produced in a short span of time making them ideally suited for downstream clinical and in vitro applications.
Antiamoebic activity of plant-based natural products and their conjugated silver nanoparticles against Acanthamoeba castellanii (ATCC 50492)
Authors: Anwar Areeba , Ting Elaine Lim Siew , Anwar Ayaz , Ain Noor ul , Faizi Shaheen , Shah Muhammad Raza , Khan Naveed Ahmed , Siddiqui Ruqaiyyah 
Published: February 2020

AbstractAcanthamoeba spp. are the causative agent of Acanthamoeba keratitis and granulomatous amoebic encephalitis (GAE). The current options to treat Acanthamoeba infections have limited success. Silver nanoparticles show antimicrobial effects and enhance the efficacy of their payload at the specific biological targets. Natural folk plants have been widely used for treating diseases as the phytochemicals from several plants have been shown to exhibit amoebicidal effects. Herein, we used natural products of plant or commercial sources including quercetin (QT), kolavenic acid (PGEA) isolated from plant extracts of Polyalthia longifolia var pendula and crude plant methanolic extract of Caesalpinia pulcherrima (CPFLM) as antiacanthamoebic agents. Furthermore, these plant-based materials were conjugated with silver nanoparticles (AgNPs) to determine the effects of the natural compounds and their nanoconjugates against a clinical isolate of A. castellanii from a keratitis patient (ATCC 50492) belonging to the T4 genotype. The compounds were conjugated with AgNPs and characterized by using ultraviolet visible spectrophotometry and atomic force microscopy. Quercetin coated silver nanoparticles (QT-AgNPs) showed characteristic surface plasmon resonance band at 443 nm and the average size distribution was found to be around 45 nm. The natural compounds alone and their nanoconjugates were tested for the viability of amoebae, encystation and excystation activity against A. castellanii. The natural compounds showed significant growth inhibition of A. castellanii while QT-AgNPs specifically exhibited enhanced antiamoebic effects as well as interrupted the encystation and excystation activity of the amoebae. Interestingly, these compounds and nanoconjugates did not exhibit in vitro cytotoxic effects against human cells. Plant-based compounds and extracts could be an interesting strategy in development of alternative therapeutics against Acanthamoeba infections.