Miracle-dz/UniFAR-FTUs huggingface dataset:
Up‐regulation of fibronectin in oesophageal squamous cell carcinoma is associated with activation of the Erk pathway

Fibronectin (FN) was found to be up‐regulated in human oesophageal squamous cell carcinoma (ESCC) by cDNA microarray analysis in our laboratory. In order to elucidate the chronology of FN expression at various stages of oesophageal carcinogenesis, RT‐PCR, immunohistochemistry and Western blot analysis were carried out on ESCC tissue samples with different pathological characteristics. FN was mainly localized in the interstitial tissues, and its up‐regulation in ESCC was significantly associated with the depth of invasion by carcinoma (R = 0.803, p < 0.01). To investigate its relationship with the Erk pathway further, pRaf‐1 and pErk‐1/2 expression were also analysed in ESCC. Activation of Erk1/2 and Raf was identified in 63.3% and 60.3% of the tumour specimens, respectively, whereas normal mucosal epithelial tissues were negative. Moreover, a close association was observed between pErk‐1/2 expression and the differentiation grade (R = −0.421, p = 0.002): pErk‐1/2 signal was greater in poorly differentiated tissues than in well and moderately differentiated tissues. Co‐expression of FN and pErk‐1/2 was found at the invasive front of tumour nests by double immunofluorescence staining and there was a statistical correlation between the expression of FN and pErk‐1/2 (p < 0.05). In the cell line EC9706, plasma FN was able to phosphorylate Raf and further activate Erk, but it did not alter MMP‐2 protein expression or activity, indicating that MMP‐2 may not be the downstream target gene of the Erk pathway. All the above data suggest that the up‐regulation of FN contributes to the later stage of oesophageal carcinogenesis, and that activation of the Erk pathway may be involved in the roles of FN in ESCC. Copyright © 2005 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.
Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV

DNA double‐strand breaks (dsb) during V(D)J recombination of T and B lymphocyte receptor genes are resolved by the non‐homologous DNA end joining pathway (NHEJ) including at least six factors: Ku70, Ku80, DNA‐PKcs, Artemis, Xrcc4, and DNA ligase IV (Lig4). Artemis and Lig4 are the only known V(D)J/NHEJ factors found deficient in human genetic disorders. Null mutations of the Artemis gene result in a complete absence of T and B lymphocytes and increased cellular sensitivity to ionizing radiations, causing radiosensitive‐SCID. Mutations of Lig4 are exclusively hypomorphic and have only been described in six patients, four exhibiting mild immunodeficiency associated with microcephaly and developmental delay, while two patient had leukemia. Here we report a SCID associated with microcephaly caused by compound heterozygous hypomorphic mutations in Lig4. Residual activity of Lig4 in these patients is underscored by a normal pattern of TCR‐α and ‐β junctions in the T cells of the patients and a moderate impairment of V(D)J recombination as tested in vitro. These observations contrast with the severity of the clinical immunodeficiency, suggesting that Lig4 may have additional critical roles in lymphocyte survival beyond V(D)J recombination.
Development and Evaluation of Theory-Based Diabetes Support Services

Technology-enabled support services for diabetes can fulfill patient demand to care for diabetes independently. Patients benefit from such services after greater adoption of the services in healthcare systems. Unfortunately, conventional service development fails to thoroughly understand patient care support, making it difficult to achieve the desired design, and posing substantial challenges in adopting these services. Thus, previously developed services in many cases are not as patients expected, as evidenced by their low acceptance among patients. To solve this problem, adequate strategies must be developed by incorporating theoretical knowledge as a solid foundation in order to improve service design. This study develops technology-enabled diabetes support services based on the self-care theory. A set of self-care service scenarios is also established and combined with theoretical concepts. The developed services consist of a nurse-led consultation service and a mobile application service. Additionally, user acceptance is confirmed by assessing patient perceptions of the diabetes support services in a group of patients with diabetes (N = 27). Results of analysis reveal that patients respond favorably toward the services. Patient preference and perceived ease of use attest to their intention to use the services. Greater adoption of the services can be anticipated, owing to a higher levels of preference and higher perceived ease of use. This study demonstrated that the self-care theory can be linked to nursing informatics research and chronic care clinical practices.
Senseless functions as a molecular switch for color photoreceptor differentiation in Drosophila

A major question in development is how different specialized cell types arise from a common progenitor. In the adult Drosophila compound eye, color discrimination is achieved by UV-, blue- and green-sensitive photoreceptors (PRs). These different PR subsets arise from neuronal precursors called R7 and R8 cells. Recent studies have demonstrated that R7-based UV-sensitive PRs require the repression of R8-based blue/green-sensitive PR characteristics to properly develop. This repression is mediated by the transcription factor Prospero (Pros). Here, we report that Senseless (Sens), a Drosophila ortholog of the vertebrate Gfi1 transcription factor, plays an opposing role to Pros by both negatively regulating R7-based features and positively enforcing R8-based features during terminal differentiation. In addition, we demonstrate that Pros and Sens function together with the transcription factor Orthodenticle (Otd) to oppositely regulate R7 and R8 PR Rhodopsin gene expression in vitro. These data show that sens, previously shown to be essential for neuronal specification, also controls differentiation of specific neuronal subtypes in the retina. Interestingly, Pros has recently been shown to function as a tumor suppressor, whereas Gfi1 is a well-characterized oncogene. Thus, we propose that sens/pros antagonism is important for regulating many biological processes.
Developmental Practicum Experiences of Preservice Teachers in Deaf Education: Implications for Practicum Placement and Faculty-Student Collaborative Research

The study examined the developmental practicum experiences of second-year graduate students in deaf education. Participants in the study consisted of a convenient sample of five practicum students. Triangulated data for the study came from the researcher's observational notes, e-mail correspondence with participants, and participants' journals. Inductive analysis was used to analyze the data. Results of the study evinced developmental experiences that are different from those reported in previous studies. The results of the study have significant implications for (a) practicum placement of graduate students in deaf education in terms of site-based orientation, use of the clinical model of supervision, opportunities for self-reflection, and periodic practicum seminars; and (b) faculty-student collaborative research in terms of planning, ethical issues, students' time needs, and training.
Understanding failure of visual paired associate learning in amnestic mild cognitive impairment

Impairment in visual paired associate learning occurs often in with amnestic mild cognitive impairment (aMCI), a condition considered to be an early stage of Alzheimer's disease (AD). To date, studies of aMCI have characterized impaired visual paired associate learning only in terms of summary scores such as total errors or total trials to criterion. The aim of this study was to determine the nature and magnitude of errors made on a continuous paired associate learning (CPAL) task designed to allow analysis of the component processes involved in paired associate learning. Twenty-one individuals with aMCI and 54 healthy age-matched older adults (HC) performed the CPAL task in which they had to learn six pattern–location pairings over six trials. Results suggested that aMCI patients performed significantly worse on the CPAL, both in learning rate and in error accumulation. Qualitative analyses of CPAL performance revealed that in aMCI there were significantly more errors on all indices except perseverative errors. When expressed as a percentage of total errors, abnormalities occurred only for within-search and exploratory errors. These findings suggest that poor performance on visual paired associate learning tasks in aMCI reflects impairments in both learning and executive function.
Environmental Stability of Seed Carbohydrate Profiles in Soybeans Containing Different Alleles of the Raffinose Synthase 2 (RS2) Gene.

Soybean [Glycine max (L.) Merr. ] is important for the high protein meal used for livestock feed formulations. Carbohydrates contribute positively or negatively to the potential metabolizable energy in soybean meal. The positive carbohydrate present in soybean meal consists primarily of sucrose, whereas the negative carbohydrate components are the raffinose family of oligosaccharides (RFOs), raffinose and stachyose. Increasing sucrose and decreasing raffinose and stachyose are critical targets to improve soybean. In three recently characterized lines, variant alleles of the soybean raffinose synthase 2 (RS2) gene were associated with increased sucrose and decreased RFOs. The objective of this research was to compare the environmental stability of seed carbohydrates in soybean lines containing wild-type or variant alleles of RS2 utilizing a field location study and a date of planting study. The results define the carbohydrate variation in distinct regional and temporal environments using soybean lines with different alleles of the RS2 gene.
Liposome-encapsulated doxorubicin in combination with standard agents (cyclophosphamide, vincristine, prednisone) in patients with newly diagnosed AIDS-related non-Hodgkin's lymphoma: results of therapy and correlates of response.

PURPOSE To evaluate the safety and efficacy of liposomal doxorubicin (Myocet; Medeus Pharma Ltd, Herts,UK) when substituted for doxorubicin in the CHOP regimen (cyclophosphamide, doxorubicin, vincristine, prednisone) in patients with newly diagnosed AIDS-related non-Hodgkin's lymphoma (AIDS-NHL). Secondary objectives were to assess the impact of HIV viral control on response and survival, and to correlate MDR-1 expression with outcome. PATIENTS AND METHODS Liposomal doxorubicin at doses of 40, 50, 60, and 80 mg/m(2) was given with fixed doses of cyclophosphamide, vincristine, and prednisone every 21 days. All patients received concurrent highly active antiretroviral therapy. NHL tissues were evaluated for multidrug resistance (MDR-1) expression. RESULTS Twenty-four patients were accrued. 67% had high or high-intermediate International Prognostic Index scores; the median CD4 lymphocyte count was 112/mm(3) (range, 19/mm(3) to 791/mm(3)). No dose-limiting toxicities were observed at any level, with myelosuppression being the most frequent toxicity. Overall response rate was 88%, with 75% complete responses (CRs), and 13% partial responses. The median duration of CR was 15.6+ months (range, 1.7 to 43.5+ months). Effective HIV viral control during chemotherapy was associated with significantly improved survival (P =.027), but CRs were attained independent of HIV viral control. MDR-1 expression did not correlate with response, suggesting that the liposomal doxorubicin may evade this resistance mechanism. CONCLUSION Liposomal doxorubicin in combination with cyclophosphamide, vincristine, and prednisone is active in AIDS-NHL, with complete remissions achieved in 75% independent of HIV viral control or tissue MDR-1 expression. HIV viral control is associated with a significant improvement in survival. Additional studies are warranted.
Improving Evaluation of Primary Gastric Malignancies by Distending the Stomach with Milk Immediately Before 18F-FDG PET Scanning

This study was designed to investigate the feasibility and effectiveness of a modified protocol for 18F-FDG PET that was proposed to improve the identification of primary gastric malignancies. Methods: In the modified protocol, patients were asked to drink 300–500 mL of cow milk to distend the stomach immediately before PET scans instead of fasting all along. For investigation of the influence of ingested milk on 18F-FDG distributions, 43 nondiabetic patients without documented gastric diseases underwent both empty- and distended-stomach PET scans (79 and 72 scans, respectively) in their serial follow-up studies. For the evaluation of proven gastric malignancies, 24 patients who underwent distended-stomach PET scans were compared with 17 patients who underwent conventional empty-stomach examinations. Results: Ingestion of milk nearly 1 h after 18F-FDG injection had no significant influence on distributions to the heart (P = 0.16), mediastinum (P = 0.50), and liver (P = 0.49), whereas the percentages of intense and moderate uptake in the stomach changed from 38.0% and 59.5% to 0% and 11.1%, respectively. With the normal gastric wall distended, malignant lesions were observed with higher contrast and clearer outlines, and some of them were detected at a small size (1.2 cm) at an early stage and with mild uptake. Conclusion: Gastric distention with milk just before 18F-FDG PET is a simple and effective method for improving the evaluation of primary gastric malignancies.
Family-based association study of lithium-related and other candidate genes in bipolar disorder.

CONTEXT Association studies in bipolar disorder have been focused on a relatively narrow pool of candidate genes based on a limited understanding of the underlying pathophysiologic features. Recent developments suggest that a broader pool of genes may be associated with this disorder. OBJECTIVE To examine the association between genes related to the lithium mechanism of action, as well as other positional and functional candidates, with bipolar I disorder. DESIGN We examined a dense set of haplotype-tagging single-nucleotide polymorphisms using a gene-based test of association. PARTICIPANTS Three hundred seventy-nine parent-affected offspring trios. RESULTS No genes specifically chosen to probe the action of lithium were associated with bipolar disorder. However, gene-based analysis of sialyltransferase 4A (SIAT4A), tachykinin receptor 1 (TACR1), and gamma-aminobutyric acid(A) beta2 receptor subunit (GABRB2) yielded evidence of association (empirical P value, <.005). Among 3 genes associated with schizophrenia or bipolar disorder in multiple previous studies, including dysbindin (DTNBP1), neuregulin (NRG1), and disrupted-in-schizophrenia 1 (DISC1), only DISC1 showed evidence of association in this cohort. In a secondary analysis of these 6 genes among parent-proband trios with a history of psychosis, evidence of the association with SIAT4A was strengthened. CONCLUSIONS These results suggest novel candidates and 1 gene (DISC1) previously associated with schizophrenia that merit further study in bipolar disorder. However, polymorphisms in major lithium-signaling genes do not appear to contribute substantially to bipolar liability.
Cloning and Characterization of a Novel Mannose-binding Protein of Acanthamoeba*

Acanthamoebae produce a painful, blinding infection of the cornea. The mannose-binding protein (MBP) of Acanthamoeba is thought to play a key role in the pathogenesis of the infection by mediating the adhesion of parasites to the host cells. We describe here the isolation and molecular cloning of Acanthamoeba MBP. The MBP was isolated by chromatography on the mannose affinity gel. Gel filtration experiments revealed that the Acanthamoeba lectin is a ∼400-kDa protein that is constituted of multiple 130-kDa subunits. Cloning and sequencing experiments indicated that the Acanthamoeba MBP gene is composed of 6 exons and 5 introns that span 3.6 kb of the amoeba genome and that MBP cDNA codes for a precursor protein of 833 amino acids. That the cloned cDNA encodes authentic MBP was demonstrated by showing that: (i) recombinant MBP possesses mannose binding activity, and (ii) polyclonal antibodies prepared against Acanthamoeba MBP bound to the recombinant protein. Sequence analysis revealed that the MBP contains a large N-terminal extracellular domain, a transmembrane domain, and a short C-terminal cytoplasmic domain. Despite extensive BLAST searches using the MBP sequence, no significant matches were retrieved. The most striking feature of the Acanthamoeba MBP sequence is the presence of a cysteine-rich region containing 14 CXCXC motifs within the extracellular domain. In summary, we have isolated, cloned, and characterized a novel MBP from Acanthamoeba. Because the presence of antibodies to MBP in tears provides protection against infection, the availability of the MBP cDNA sequence and rMBP should help develop: (i) a tear-based test to identify individuals who are at risk of developing the keratitis and (ii) strategies to immunize high-risk individuals.
Pulse Oximetry and Auscultation for Congenital Heart Disease Detection

Using POX plus cardiac auscultation can significantly improve the detection rate of major CHD in the early neonatal stage. OBJECTIVES: Pulse oximetry (POX) has been confirmed as a specific screening modality for critical congenital heart disease (CCHD), with moderate sensitivity. However, POX is not able to detect most serious and critical cardiac lesions (major congenital heart disease [CHD]) without hypoxemia. In this study, we investigated the accuracy and feasibility of the addition of cardiac auscultation to POX as a screening method for asymptomatic major CHD. METHODS: A multicenter prospective observational screening study was conducted at 15 hospitals in Shanghai between July 1, 2012, and December 31, 2014. Newborns with either an abnormal POX or cardiac auscultation were defined as screen positive. All screen-positive newborns underwent further echocardiography. False-negative results were identified by clinical follow-up, parents’ feedback, and telephone review. We assessed the accuracy of POX plus cardiac auscultation for the detection of major CHD. RESULTS: CHD screening was completed in all 15 hospitals, with a screening rate of 94.0% to 99.8%. In total, 167 190 consecutive asymptomatic newborn infants were screened, of which 203 had major CHD (44 critical and 159 serious). The sensitivity of POX plus cardiac auscultation was 95.5% (95% confidence interval 84.9%–98.7%) for CCHD and 92.1% (95% confidence interval 87.7%–95.1%) for major CHD. The false-positive rate was 1.2% for detecting CCHD and 1.1% for detecting major CHD. CONCLUSIONS: In our current study, we show that using POX plus cardiac auscultation significantly improved the detection rate of major CHD in the early neonatal stage, with high sensitivity and a reasonable false-positive rate. It provides strong evidence and a reliable method for neonatal CHD screening.
The prevalence of metabolic syndrome in Latin America: a systematic review

Abstract Objective To assess the available data on the prevalence of metabolic syndrome (MS) in Latin-American countries. Design Systematic review. Searches were carried out in PubMed, ISIWeb, SCielo and Redalyc, using ‘metabolic syndrome x’ and ‘prevalence’ as keywords for titles and/or abstracts. Articles selected were cross-sectional studies in Latin-American countries, whose main objective was to study MS and whose study population is described below. MS must be determined using Adult Treatment Panel III criteria. Twelve studies with these criteria were selected, one of which was multi-centric. Setting Latin America. Subjects Apparently healthy subjects aged 18–65 years (including young adult, mature adult and elderly populations) of both genders. Results The general prevalence (weighted mean) of MS in Latin-American countries was 24·9 (range: 18·8–43·3) %. MS was slightly more frequent in women (25·3 %) than in men (23·2 %), and the age group with the highest prevalence of MS consisted of those over 50 years of age. The most frequent components of MS were low HDL cholesterol levels (62·9 %) and abdominal obesity (45·8 %). Similar outcomes were obtained from the multi-centre study on Latin-American populations analysed. Conclusions The present review brings us closer to an understanding of the prevalence of MS in Latin-American countries. However, it is not possible to know the full scope of the problem, partly because data from some countries are not available, and because the methodological differences among the studies published up to the present limit a joint analysis of their results.
Cortical responses to consciousness of schematic emotional facial expressions: A high‐resolution EEG study

Is conscious perception of emotional face expression related to enhanced cortical responses? Electroencephalographic data (112 channels) were recorded in 15 normal adults during the presentation of cue stimuli with neutral, happy or sad schematic faces (duration: “threshold time” inducing about 50% of correct recognitions), masking stimuli (2 s), and go stimuli with happy or sad schematic faces (0.5 s). The subjects clicked left (right) mouse button in response to go stimuli with happy (sad) faces. After the response, they said “seen” or “not seen” with reference to previous cue stimulus. Electroencephalographic data formed visual event‐related potentials (ERPs). Cortical sources of ERPs were estimated by LORETA software. Reaction time to go stimuli was generally shorter during “seen” than “not seen” trials, possibly due to covert attention and awareness. The cue stimuli evoked four ERP components (posterior N100, N170, P200, and P300), which had similar peak latency in the “not seen” and “seen” ERPs. Only N170 amplitude showed differences in amplitude in the “seen” versus “not seen” ERPs. Compared to the “not seen” ERPs, the “seen” ones showed prefrontal, premotor, and posterior parietal sources of N170 higher in amplitude with the sad cue stimuli and lower in amplitude with the neutral and happy cue stimuli. These results suggest that nonconscious and conscious processing of schematic emotional facial expressions shares a similar temporal evolution of cortical activity, and conscious processing induces an early enhancement of bilateral cortical activity for the schematic sad facial expressions (N170). Hum Brain Mapp, 2010. © 2010 Wiley‐Liss, Inc.