Miracle-dz/UniFAR-FTUs huggingface dataset:
Gaucher disease types 1 and 3: Phenotypic characterization of large populations from the ICGG Gaucher Registry

Study of the natural history of Gaucher disease has revealed marked phenotypic variation. Correlations to genotypes could provide insight into individual susceptibility to varying disease severity, which may impact whole‐life medical care, reproductive decisions, and therapeutic choices for affected families. Importantly, pre‐symptomatic or prospective interventions or the use of therapies with significant risk require accurate risk‐benefit analyses based on the prognosis for individual patients. The body of international data held within the International Collaborative Gaucher Group (ICGG) Gaucher Registry provides an unprecedented opportunity to characterize the phenotypes of Gaucher disease types 1 and 3 and to appreciate demographic and ethnic factors that may influence phenotypes. The diversity of GBA gene mutations from patients with Gaucher disease represented in the ICGG Gaucher Registry database and in the literature provides the basis for initial genotype/phenotype correlations, the outcomes of which are summarized here.Am. J. Hematol. 90:S12–S18, 2015. © 2015 Wiley Periodicals, Inc.
Spinal Stenosis and Health Status

Study Design This study examined the hypothesis that a small adult vertebral canal is a marker of early impairment of growth, and that other sensitive systems may be impaired similarly, producing an adult relationship among a small canal, poor health, and academic ability. Objectives Comparisons of health and some aspects of academic ability were made between patients whose canals were above and those below the mean at L5. Methods Seventy-five patients were examined, 42 men and 33 women. They had comprehensive cardiovascular, respiratory, and digestive system health assessments. Their post-school qualifications were recorded, and they were assessed by the MILL HILL vocabulary test and the progressive matrices test. Results Twenty-two men and 21 women had canals above the mean, and 20 men and 12 women had canals below the mean. A significant difference did not exist in the age of those with wider and narrower canals. Cardlovascular symptoms and gastrcintestinal symptoms were more common in men and women with narrower canals (P = 0.04 and 0.048), but there was no significant difference in respiratory symptoms. Those with wider canals had more post-school qualifications than those with smaller canals [P = 0.04], and in men, their performance in the Mill Hill vocabulary test and the progressive matrics test approached significance (P = 0.08 and 0.06). Conclusions The association between a smaller vertebral canal and impairment of health and certain intellectual abilities may result from an adverse environment that affects several growing systems early in life. If the small canal is a marker of a generalized developmental disturbance, it is, to some degree, preventable.
Vonoprazan-based therapy for Helicobacter pylori eradication: experience and clinical evidence

Stable suppression of gastric acid secretion is a crucial factor in Helicobacter pylori eradication. Vonoprazan is a potassium-competitive acid blocker recently approved for use in Japan. As vonoprazan has a long duration of action and causes rapid and strong inhibition of gastric acid secretion, it has gained clinical attention for treating erosive oesophagitis, peptic ulcers, and H. pylori infection. In this review, we discuss the recent knowledge regarding the safety and efficacy of vonoprazan, focusing on its use in H. pylori eradication. The latest literature and our clinical experience have shown that vonoprazan-based therapies have satisfactory eradication rates. Additionally, vonoprazan-based therapies are associated with similar rates of adverse events as standard triple therapies with conventional proton-pump inhibitors.
Evaluation of vaccines for H 5 N 1 influenza virus in ferrets reveals the potential for 2 protective single-shot immunisation

Melbourne, Parkville, Victoria, Australia 4 . 11 12 13 14 15 16 *Corresponding author: Mailing address: Department of Microbiology and Immunology, The 17 University of Melbourne, Parkville, Victoria 3010, Australia. Phone: +61-3-83443865 Fax: +61-318 83443866 E-mail: lorena@unimelb.edu. au 19 20 Running title: Protective vaccines for pandemic influenza 21 22 23 Word count abstract = 250; word count text = 4521 24 Copyright © 2009, American Society for Microbiology and/or the Listed Authors/Institutions. All Rights Reserved. J. Virol. doi:10.1128/JVI.00241-09 JVI Accepts, published online ahead of print on 20 May 2009
Optimum Operating Pressure Ratio for Scroll Compressor

A scroll compressor has a built-in volume ratio, and ideally it should be operated under a built-in pressure ratio condition that is a function of the built-in volume ratio. but in actual operation, the compressor shows its maximum efficiency at a pressure ratio that differs from the built-in pressure ratio. In this paper, theoretical performances are presented by analyses accounting of flow resistance at the opening of scroll warps and leakage through wrap clearances. The flow resistance at the discharge opening causes an over compression loss in a built-in pressure operation but reduces a undercompression loss in a high-pressure operation, which indicates that the optimum operating pressure ratio shifts to a pressure ratio higher than the built-in pressure ratio. Leakage accelerated the pressure rise during a compression process so that the optimum pressure ratio becomes lower than it would be in the absence of leakage. Increase in the compressor speed moderates the under compression loss and leads to a higher optimum operating pressure ratio.
Ortaöğretim Kurumlarında İngilizce Öğretimine İlişkin Öğrenci Görüşleri

Bu calismanin amaci, ortaogretim kurumlarinda Ingilizce ogretimine iliskin ogrenci goruslerini tespit etmektir. Bu arastirma, Gaziantep ilinde 26 genel lisede yapilmistir. Arastirmanin evrenini, genel liselerde ogrenim goren ogrenciler olusturmustur. Orneklem ise, rasgele orneklem metodu ile secilerek, 26 lisede ogrenim goren 414 ogrenciden olusmustur. Veri toplama araci olarak, ogrencilerin goruslerini yansitan, 11 maddelik 5 secenekli bir anket kullanilmistir. Veriler, yuzdelik calismasi yapilarak, analiz edilmistir. Arastirma sonuclarina gore; ogrencilerin yarisina yakini okullarinda verilen Ingilizce ogretimini begenmemektedirler. Ogrencilerin buyuk cogunlugu dersin notlandirilarak degerlendirilmesi gerektigini belirtmislerdir. Ogrenciler, teknolojideki ilerleme ve Ingilizce arasinda bir baglanti kurmamislardir. Ayrica ogrencilerin cogu, Ingilizce derslerinde konularin sikici anlatildigindan ve derslerde kitap ve kasetcalar disinda arac-gerec kullanilmadigindan yakinmistir. Genel olarak, ortaogretimde Ingilizce ogretiminin ogrencilerin istek ve ihtiyaclarina cevap vermedigi sonucu cikarilmaktadir
Optimizing dendritic cell‐based immunotherapy in multiple myeloma: intranodal injections of idiotype‐pulsed CD40 ligand‐matured vaccines led to induction of type‐1 and cytotoxic T‐cell immune responses in patients

Vaccination with idiotype (Id) protein‐pulsed dendritic cells (DCs) has been explored in multiple myeloma and the results have been disappointing. To improve the efficacy of DC vaccination in myeloma, we investigated the use of Id‐ and keyhole limpet haemocyanin (KLH)‐pulsed, CD40 ligand‐matured DCs administered intranodally. Nine patients with smouldering or stable myeloma without treatment were enrolled and DC vaccines were administered at weekly intervals for a total of four doses. Following vaccination, all patients mounted Id‐specific γ‐interferon T‐cell response. Interleukin‐4 response was elicited in two, and skin delayed‐type hypersensitivity reaction occurred in seven patients. More importantly, Id‐specific cytotoxic T‐cell responses were also detected in five patients. Most if not all patients mounted a positive T‐cell response to KLH following vaccination. At 1‐year follow‐up, six of the nine patients had stable disease, while three patients had slowly progressive disease even during the vaccination period. At 5‐year follow‐up, four of the six patients continued with stable disease. No major side effects were noted. In summary, intranodal administration of Id‐pulsed CD40 ligand‐matured DCs was able to induce Id‐specific T and B‐cell responses in patients. Current efforts are geared towards breaking tumour‐mediated immune suppression and improving clinical efficacy of this immunotherapy.
Effects of alfentanil on cerebral vascular reactivity in dogs.

The effects of high dose alfentanil on the cerebral vascular responses to alterations in mean arterial pressure (MAP), arterial oxygen tension (PaO2) and arterial carbon dioxide tension (PaCO2) were studied in 17 dogs, using the cerebral venous outflow technique. In six animals anaesthetized with sodium pentobarbitone 30 mg kg-1 i.v. , bolus injection of alfentanil 0.32 mg kg-1 i.v. decreased MAP without a change in cerebral blood flow (CBF). In another group of animals(n = 5) anaesthetized with pentobarbitone 30 mg kg-1 i.v. the CBF responses to changes in MAP, PaO2, and PaCO2 were studied. In a third group of animals (n = 6) anaesthetized with alfentanil 0.32 mg kg-1 i.v. plus pentobarbitone 1-2 mg kg-1 i.v. and an infusion of alfentanil 0.32 mg kg-1 h-1, the CBF response to alterations in MAP, PaO2, and PaCO2 were studied and compared with the barbiturate-anaesthetized animals. The CBF responses to hypercapnia and hypoxia in the alfentanil-anaesthetized animals were not different from those observed in animals anaesthetized with barbiturate only. The lower and upper limits of cerebral autoregulation in alfentanil-anaesthetized animals were not different from those observed in animals anaesthetized with barbiturate only. The data suggest that alfentanil, in doses sufficient to cause profound analgesia and anaesthesia, does not alter cerebral reactivity to changes in PaO2, PaCO2 and MAP.
Ontologies for Dates and Duration

Reasoning with dates and duration has long been addressed by the community. Existing duration ontologies, however, lack complete axiomatizations of their intended models; many simply represent timedurations as real numbers and treat the duration function as a metric on the timeline. We show that such approaches are inadequate and provide a first-order ontology of duration that overcomes these limitations.
Trypanosoma cruzi screening in Texas blood donors, 2008–2012

SUMMARY Chagas disease is an important emerging disease in Texas that results in cardiomyopathy in about 30% of those infected with the parasite Trypanosoma cruzi. Between the years 2008 and 2012, about 1/6500 blood donors were T. cruzi antibody-confirmed positive. We found older persons and minority populations, particularly Hispanic, at highest risk for screening positive for T. cruzi antibodies during routine blood donation. Zip code analysis determined that T. cruzi is associated with poverty. Chagas disease has a significant disease burden and is a cause of substantial economic losses in Texas.
Report of a phase 1/2 study of a combination of azacitidine and cytarabine in acute myelogenous leukemia and high-risk myelodysplastic syndromes

Cytarabine resistance characterizes relapsed and refractory acute myelogenous leukemia (AML). Restoration of cytarabine sensitivity can potentially improve treatment outcome in this setting. Acquired hypermethylation of gene promoters and associated silencing of gene expression has been implicated in chemo resistance, and drug-induced hypomethylation can improve sensitivity to cytarabine in vitro. We conducted an adaptively randomized study of a combination of azacitidine, a hypomethylating agent, and cytarabine in 34 patients with AML. The combination administered in a concomitant fashion is safe at full doses of azacitidine and cytarabine, without unexpected toxicities. However, in this advanced AML population, it was difficult to deliver more than one cycle of therapy, and minimal anti-leukemia activity was seen in patients with relapsed/refractory disease. Complete remission was achieved in 2 of 6 minimally pre-treated patients. We conclude that the combination of azacitidine and cytarabine is feasible but has limited activity in relapsed/refractory AML.
CD8+ T‐Cell Depletion and Rapamycin Synergize with Combined Coreceptor/Stimulation Blockade to Induce Robust Limb Allograft Tolerance in Mice

The growing development of composite tissue allografts (CTA) highlights the need for tolerance induction protocols. Herein, we developed a mouse model of heterotopic limb allograft in a stringent strain combination in which potentially tolerogenic strategies were tested taking advantage of donor stem cells in the grafted limb. BALB/c allografts were transplanted into C57BL/6 mice treated with anti‐CD154 mAb, nondepleting anti‐CD4 combined to either depleting or nondepleting anti‐CD8 mAbs. Some groups received additional rapamycin. Both depleting and nondepleting mAb combinations without rapamycin only delayed limb allograft rejection, whereas the addition of rapamycin induced long‐term allograft survival in both combinations. Nevertheless, robust donor‐specific tolerance, defined by the acceptance of a fresh donor‐type skin allograft and simultaneous rejection of third‐party grafts, required initial CD8+ T‐cell depletion. Mixed donor‐recipient chimerism was observed in lymphoid organs and recipient bone marrow of tolerant but not rejecting animals. Tolerance specificity was confirmed by the inability to produce IL‐2, IFN‐γ and TNF‐α in MLC with donor antigen while significant alloreactivity persisted against third‐ party alloantigens. Collectively, these results show that robust CTA tolerance and mixed donor‐recipient chimerism can be achieved in response to the synergizing combination of rapamycin, transient CD8+ T‐cell depletion and costimulation/coreceptor blockade.
Phytotoxicity assay of crop plants to phenanthrene and pyrene contaminants in acidic soil

Four selected plants (corn, groundnut, cow pea, and mungbean) were tested for their ability to germinate and grow in an acidic soil contaminated with phenanthrene or pyrene, two typical polycyclic aromatic hydrocarbons (PAHs). The growth of corn root was the least sensitive to, but its germination rate was the lowest in the presence of, contaminants. Among the legumes, the growth of groundnut root was better than others. Corn and groundnut were selected to further test their ability to tolerate a mixture of phenanthrene and pyrene in the acidic soil. The presence of both PAHs led to a greater decrease in the lengths of shoot and root of groundnut than phenanthrene or pyrene alone, but the lengths of shoot and root of corn were decreased to a similar extent as when phenanthrene or pyrene was present alone. The growth of corn root was also better than that of groundnut root when they were grown in oil‐contaminated soil. Based on these results, we conclude that corn is the most suitable to be grown in PAH‐contaminated acidic soil. © 2007 Wiley Periodicals, Inc. Environ Toxicol 22: 597–604, 2007.
Trabecular Bone Microarchitecture Is Deteriorated in Men With Spinal Cord Injury

Using magnetic resonance imaging, men with spinal cord injury (n = 10) were found to have fewer trabeculae that were spaced further apart in the knee than able‐bodied controls of similar age, height, and weight (n = 8). The deteriorated trabecular bone microarchitecture may contribute to the increased fracture incidence after injury.
[Effects of Fuzheng Huayu Capsule on the ratio of TGF-beta1/BMP-7 of chronic viral hepatitis B fibrosis patients of Gan-Shen insufficiency blood-stasis obstruction syndrome].

OBJECTIVE To observe the effects of Fuzheng Huayu Capsule (FHC) on the liver function, HBV DNA quantization, the ratio of transforming growth factor-beta1/bone morphogenetic protein-7 (TGF-beta1/ BMP-7) of peripheral blood mononuclear cells (PBMCs), HBV DNA YMDD variation, and the liver tissue pathology of chronic viral hepatitis B fibrosis patients of Gan-Shen insufficiency blood-stasis obstruction syndrome (GSIBSOS) on the basis of antiviral treatment by lamivudine. METHODS Eighty chronic viral hepatitis B fibrosis patients of GSBSOS were randomly assigned to two groups. Patients in the control group (43 cases) were treated with lamivudine alone, while those in the treatment group (37 cases) were treated with lamivudine + FHC. The treatment period lasted for 6 months. By the end of treatment lamivudine was continually given to all patients, and patients were followed up for 6 months. Before and after treatment, liver tissue pathology was examined by liver biopsy. The serum HBV DNA quantization, the ratio of TGF-beta1/BMP-7 were determined by fluorescence quantitative polymerase chain reaction (PCR). HBV DNA YMDD variation was tested by the end of follow-ups. RESULTS Better effects were obtained in decreasing the levels of ALT, AST, and HBV DNA after 6 months of treatment in the two groups, with statistical difference when compared with before treatment in the same group, but with no statistical difference between the two groups. At the end of the 6th month follow-up, YMDD variation occurred in 9 cases of the control group and in 5 cases of the treatment group, with statistical difference between the two groups (P < 0.05). FHC could significantly reduce the ratio of TGF-beta1/BMP-7, significantly lower in the treatment group (0.09 vs 0.25, P < 0.05). In the aspect of liver tissue pathological changes, the rates of inflammatory activity over G3 and fibrosis degree S3 in the treatment group were significantly lower than those in the control group (P < 0.05). CONCLUSIONS On the basis antiviral treatment of lamivudine for chronic viral hepatitis B fibrosis patients of BSOS, additional application of FHC could lower the HBV DNA YMDD variation, improve the hepatic inflammation and fibrosis, and exert anti-fibrosis by decreasing the ratio of TGF-beta1/BMP-7.
Reduction in auditory distraction by retrieval strategy

Most research on auditory distraction on task performance focuses on those features of the sound that determine a drop in efficiency, with scant regard for examining the processing properties inherent in the focal task. We report how one such property, retrieval strategy, can also influence the degree of disruption by background sound. Using a task that called for the retrieval of realistic train journey information, we showed that retrieval by categories of verbal sequences was not susceptible to disruption by office sound—65–75 dB(A). However, versions of the task requiring either free or serial recall showed evidence of disruption, a pattern of results consistent with the changing-state account of the irrelevant sound effect, which highlights the key role of serial rehearsal in determining disruption.
Comparison of probabilistic diffusion tensor tractography and histological tracer studies in the rhesus macaque

Examinations of probabilistic tractography have identified major tracts across the brain, but little has been done to compare them to wellestablished tracer studies. Therefore, diffusion tensor imaging (DTI) probabilistic tractography of white matter (WM) was performed on a DTI template generated from 271 rhesus macaques. Injection sites from tracer experiments in literature were chosen as seed regions from which to begin tractography. Results demonstrated the probabilistic connectivity maps obtained on the DTI template were largely consistent with connectivity maps from the tracer studies.
Comparison of controlled-release and immediate-release oxycodone tablets in patients with cancer pain.

PURPOSE This study compared the clinical efficacy of oxycodone hydrochloride controlled-release (CR) tablets administered every 12 hours with immediate-release (IR) oxycodone tablets administered four times daily in patients with cancer-related pain. PATIENTS AND METHODS Cancer patients who required therapy for moderate to severe pain were randomized to CR oxycodone every 12 hours (n=81) or IR oxycodone four times daily (n=83) for 5 days in a multicenter, double-blind study. Pain intensity was assessed four times daily (categorical scale of none, slight, moderate, and severe); acceptability of therapy was assessed twice daily (categorical scale of very poor, poor, fair, good, and excellent). RESULTS Pain intensity remained slight during the study, with mean oxycodone doses of 114 mg/d (range, 20 to 400 mg/d) for CR and 127 mg/d (range, 40 to 640 mg/d) for IR. Acceptability of therapy was fair to good with both treatments. While standard conversion ratios provided an acceptable dose for many patients, a protocol amendment that allowed initial titration and use of rescue medication reduced the discontinuation rate for lack of acceptable pain control (from 34% to 4% with CR and from 31% to 19% with IR before and after amendment, respectively) without increasing the discontinuation rate for adverse events (from 8% to 7% with CR and from 13% to 11% with IR). Fewer adverse events were reported with CR (109) than with IR (186) oxycodone (P=.006). CONCLUSION CR oxycodone every 12 hours was as effective as IR oxycodone four times daily in managing moderate to severe cancer-related pain and was associated with fewer reports of adverse events.
Adiponectin Gene Polymorphisms in Obese Greek Youth

We investigated single nucleotide polymorphisms 45T --> G and 276G --> T of the adiponectin gene in 48 obese Greek children and adolescents (3.58-16.25 years old) and examined their association with adiponectin levels and insulin resistance (IR), estimated with HOMA-IR, AUC(insulin) and WBISI. The polymorphisms were: 45T/G in 13/48 (27%) and 45G/G in 2 (4%) individuals; 276G/T in 21/41 (51%) and 276T/T in 3 (8%) individuals. Adiponectin in carriers of one or two G-alleles at position 45 was comparable to 45T/T (10.11 +/- 6.19 vs 8.03 +/- 4.96 microg/ml). Adiponectin in carriers of one or two T-alleles at position 276 was comparable to 276G/G (9.73 +/- 5.19 vs 7.77 +/- 5.65 microg/ml). SNP 45T --> G was not associated with IR. SNP276G --> T was associated with decreased risk for IR (OR = 3.05, 95% CI = 1.2384-11.13). In conclusion, SNPs 45T --> G and 276G --> T are common in obese young Greeks. SNP276G --> T might be protective against IR.
Geometry of site alignment during int family recombination: antiparallel synapsis by the Flp recombinase.

The Flp site-specific recombinase functions in the copy number amplification of the yeast 2 microm plasmid. The recombination reaction is catalyzed by four monomers of Flp bound to two separate, but identical, recombination sites (FRT sites) and occurs in two sequential pairs of strand exchanges. The relative orientation of the two recombination sites during synapsis was examined. Topoisomerase relaxation and nick ligation were used to detect topological nodes introduced by the synapse prior to the chemical steps of recombination. A single negative supercoil was found to be trapped by Flp in substrates with inverted FRT sites whereas no trapped supercoils were observed with direct repeats. The topology of products resulting from Flp-mediated recombination adjacent to a well characterised synapse, that of Tn3 resolvase/res, was analyzed. The deletion and inversion reactions yielded the four noded catenane and the three noded knot, respectively, as the simplest and the most abundant products. The linking number change introduced by the Flp-mediated inversion reaction was determined to be +/-2. The most parsimonious explanation of these results is that Flp aligns its recombination sites with antiparallel geometry. The majority of synapses appear to occur without entrapment of additional random plectonemic DNA supercoils between the sites and no additional crossings are introduced as a result of the chemical steps of recombination.