Miracle-dz/UniFAR-FTUs huggingface dataset:
Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling

Retinoblastoma (RB) is a rare childhood malignant disorder caused by the biallelic inactivation of RB1 gene. Early diagnosis and identification of carriers of heritable RB1 mutations can improve disease outcome and management. In this study, mutational analysis was conducted on fifty-nine matched tumor and peripheral blood samples from 18 bilateral and 41 unilateral unrelated RB cases by a combinatorial approach of Multiplex Ligation-dependent Probe Amplification (MLPA) assay, deletion screening, direct sequencing, copy number gene dosage analysis and methylation assays. Screening of both blood and tumor samples yielded a mutation detection rate of 94.9% (56/59) while only 42.4% (25/59) of mutations were detected if blood samples alone were analyzed. Biallelic mutations were observed in 43/59 (72.9%) of tumors screened. There were 3 cases (5.1%) in which no mutations could be detected and germline mutations were detected in 19.5% (8/41) of unilateral cases. A total of 61 point mutations were identified, of which 10 were novel. There was a high incidence of previously reported recurrent mutations, occurring at 38.98% (23/59) of all cases. Of interest were three cases of mosaic RB1 mutations detected in the blood from patients with unilateral retinoblastoma. Additionally, two germline mutations previously reported to be associated with low-penetrance phenotypes: missense-c.1981C>T and splice variant-c.607+1G>T, were observed in a bilateral and a unilateral proband, respectively. These findings have implications for genetic counselling and risk prediction for the affected families. This is the first published report on the spectrum of mutations in RB patients from Singapore and shows that further improved mutation screening strategies are required in order to provide a definitive molecular diagnosis for every case of RB. Our findings also underscore the importance of genetic testing in supporting individualized disease management plans for patients and asymptomatic family members carrying low-penetrance, germline mosaicism or heritable unilateral mutational phenotypes.
A Low-Parasitic and Common-Centroid Cross-Coupled CMOS Transistor Structure for High-Frequency VCO Design

This letter reports a cross-coupled transistor structure that allows simple routing, induces no gate-drain overlap interconnect capacitances, minimizes the parasitic resistances of interconnects, allows smaller drain-junction parasitic capacitances, and provides inherent common-centroid characteristic, all of which help to improve the high-frequency and wideband performances of CMOS voltage-controlled oscillators (VCOs). The proposed cross-coupled transistor structure is applied for a 26.2-GHz differential VCO design which dissipates 7.3 mA from 1.8-V supply using 0.18-mum CMOS. Measurements show 2.1-GHz, 29%, and 4-dB improvements in operating frequency, tuning range, and phase noise compared to those of the VCO using a conventional cross-coupled transistor layout, respectively. The VCO with the proposed transistor structure shows the phase noise of -113.7 dBc/Hz at 1 MHz, which corresponds to FOM and FOMT of -190.4 and -194 dBc/Hz, respectively.
Assisted History Matching Using Pattern Recognition Technology

This study examines the application of pattern recognition technologies to improve the time and effort required for completing successful history matching projects. The pattern recognition capabilities of artificial intelligence and data mining techniques are used to develop a surrogate reservoir model (SRM), which is then employed to perform the assisted history matching process. A well-known reservoir model, PUNQ-S3, was selected to study the potentials of the SRM in an assisted history matching process. The SRM is a prototype of a full-field reservoir simulation model that demands a low development cost and has a high implementation pace. SRMs are built based on a spatio-temporal database, which includes different types of data extracted from a few realisations of the simulation model. The SRM was coupled with the differential evolution optimisation method to construct an automated history matching workflow. The results of this study prove the SRMs' capability in assisting history matching processes. [Received: December 3, 2015; Accepted: June 17, 2016]
Left ventricular systolic and diastolic function in subjects with a bicuspid aortic valve without significant valvular dysfunction.

BACKGROUND The bicuspid aortic valve (BAV) represents the most common cardiac congenital malformation in adults. It is frequently associated with dilation, aneurysm and dissection of the ascending aorta. OBJECTIVE To evaluate left ventricular systolic and diastolic function in subjects with BAVs. METHODS Thirty-five subjects with BAV (mean [± SD] age 25.9±5.7 years [range 17 to 36 years]; 18 male, 17 female) with either no valvular impairment or mild valvular impairment were recruited along with 30 control subjects (24.5±4.4 years of age [range 15 to 35 years]; 15 male, 15 female) who were matched for age, sex and body surface area. Left ventricular systolic and diastolic function were evaluated using conventional and tissue Doppler echocardiography. Left ventricular systolic and diastolic parameters were compared between the two groups. RESULTS In subjects with BAVs, the ratio of mitral early diastolic velocity to late diastolic velocity was lower (0.95±0.4 versus 1.27±0.9; P=0.001), the ratio of mitral early diastolic velocity to myocardial early diastolic velocity was higher (10.1±3.2 versus 6.5±2.4; P=0.001) and the myocardial early diastolic velocity was lower (8.4±2.1 versus 15.3±3.6; P<0.001) compared with control subjects. In addition, the myocardial performance index was higher in subjects with BAVs than in control subjects (P=0.03). The left ventricular ejection fraction was also lower (53±11% versus 64±13%; P<0.001). No other statistically significant differences were observed between the two groups with regard to left ventricular systolic and diastolic parameters. In addition, the number of mitral valve prolapses and atrial septal aneurysms was higher in subjects with BAVs. CONCLUSION BAVs may be associated with left ventricular systolic and diastolic dysfunction.
Infant attention to facial expressions and facial motion.

Three-month-old infants were shown moving faces and still faces on videotape in a paired-comparison situation. Motion type was clearly specified, and facial expression and motion were separately varied. Infants saw a still face, internal motion on the face (i.e., motion of the internal features), and whole object (i.e., side-to-side) motion, each with happy and neutral expressions. Infants showed preference for expressions when the face was still and when it showed internal motion. Facial expression and facial motion were equally preferred, and both appeared to be salient dimensions of the face for three-month-old infants.
Estimated Numbers of Community Cases of Illness Due to Salmonella, Campylobacter and Verotoxigenic Escherichia Coli: Pathogen-specific Community Rates.

OBJECTIVE To estimate the annual number of cases of illness due to verotoxigenic Escherichia coli (VTEC), Salmonella and Campylobacter in the Canadian population, using data from the National Notifiable Disease registry (NND), estimates of under-reporting derived from several National Studies on Acute Gastrointestinal Illness, and the literature. METHODS For each of the three pathogens (VTEC, Salmonella and Campylobacter), data were used to estimate the percentage of cases reported at each step in the surveillance system. The number of reported cases in the NND for each pathogen was then divided by these percentages. In cases where the pathogen-specific estimates were unavailable, data on acute gastrointestinal illness were used, accounting for differences between those with bloody and nonbloody diarrhea. RESULTS For every case of VTEC, Salmonella and Campylobacter infection reported in the NND, there were an estimated 10 to 47, 13 to 37, and 23 to 49 cases annually in the Canadian population, respectively. CONCLUSIONS The authors estimate that a significant number of infections due to VTEC, Salmonella and Campylobacter occur each year in Canada, highlighting the fact that these enteric pathogens still pose a significant health burden. Recognizing the significant amount of under-reporting is essential to designing appropriate interventions and assessing the impact of these pathogens in the population.
The Clinical Value of Microtransferrinuria and Microalbuminuria in the Prediction of Pre-eclampsia

Abstract The aim of this study is to determine whether the presence of microtransferrinuria and microalbuminuria detected in pregnant women who are free of symptoms can predict the subsequent development of preeclampsia. One hundred fifty five pregnant women were successfully followed from 10 weeks gestation up till delivery. Pre-eclampsia developed in 31 women (17 mild and 12 severe pre-eclampsia), and eclampsia developed in two cases, whereas 124 women remained normotensive (controls). First morning urine specimens were collected during 10 to 12 weeks gestation and analyzed for microalbuminuria by a specific immunochemical test strip method. Mid-trimester mean a rterial blood pressure (MAP) was also measured. Urinary microtransferrin levels in pregnant women who subsequently developed severe pre-eclampsia and eclampsia were significantly higher than those of pregnant women who remained normotensive. Microtransferrinuria as a predictor for pre-eclampsia had a sensitivity 93.5%, specificity 65%, positive predictive value 83% and negative predictive value 98.4%, whereas these values for microalbuminuria were: 50%, 58%, 50% and 91%, respectively. Urinary microtransferrin levels were significantly elevated in women with elevated MAP and in women who delivered low birt h weight and low Apgar score babies. In conclusion, microtransferrinuria is a potentially more sensitive predictor of pre-eclampsia than microalbuminuria. Moreo v e r, microtransferrinuria in early pregnancy might be a negative marker of fetal outcome in pre-eclampsia.
CO2 concentrating mechanisms in eukaryotic microalgae

Many aquatic photosynthetic microorganisms possess inducible CO2 concentrating mechanisms (CCMs) that allow them to optimize carbon acquisition in environments with frequently changing and often limiting CO2 concentrations. The CCMs function by accumulation of a large quantity of intracellular inorganic carbon (Ci) through concerted Ci uptake systems and enzymes catalyzing the interconversion between different species of Ci. In addition, an array of regulatory devices appears present to facilitate the sensing of CO2 availability and the regulation of metabolic pathways. Over the past several decades, significant advances have been made in understanding the CCM and its regulation. With the aid of mutant studies and the availability of several cyanobacterial and eukaryotic algal genomes, an integrated picture is emerging to reveal many of the molecular details in the microalgal CCMs. This review will focus on the recent advances in identifying and characterizing the major components involved in the CCM, including Ci uptake systems and regulatory pathways in eukaryotic microalgae, especially in the model organism, Chlamydomonas reinhardtii.
Alternative pathway implicated as an influencing factor in the synthesis of theaflavin

Abstract The principal pigments present in black tea, theaflavins (TF), have been indicated to be of potential clinical significance in various fields of research which has been hampered by the very low levels of TFs from black tea extractions, being the original method employed to acquire TFs. Forelle pear (44 µM TF/g dry weight/h) and Yacon leaf (65 µM TF/g dry weight/h) homogenates were tested for their TF synthesis capacity and found to have a larger TF synthesis capacity than a green tea leaf homogenate (26 µM TF/g dry weight/h) based upon the flavognost method. In an incubation system of green tea leaf extract utilizing endogenous enzymes present in Forelle pear and Yacon homogenates to synthesize TF, the formation of an unknown peak [m/z 563.1349; (23.95)5; C26H28O14] was detected by mass spectrometry with a molecular mass similar to TF. This is in contrast to TF being solely synthesized in an in vitro model incubation system using isolated catechins and purified Forelle pear polyphenol oxidase. The preferential formation of the unknown compound could explain the low levels of TFs in black tea.
Educational Needs of School Personnel regarding Child Abuse and/or Neglect

From a review of literature a questionnaire was developed to identify problems related to child abuse/neglect in a rural school district. School administrators, regular and special education teachers, and counselors completed the survey to help establish more effective training programs. Analysis indicated that (1) school personnel need further assistance in dealing with problems pertaining to the maltreatment of students. (2) Formal, coordinated, workshop training for child abuse/neglect is needed. (3) Colleges and universities should offer instruction on abuse/neglect for persons preparing to work in schools. (4) School personnel need to be aware of and abide by the laws regarding reporting cases of abuse/neglect. (5) Improved communication among school, community, courts, and social service agencies is required for dealing with abuse cases. (6) School personnel should become more aware of what happens after abuse/neglect has been reported. Information from such analysis even for one school district can increase insight into problems.
Treatment of Dermatosis Papulosa Nigra in 10 Patients: A Comparison Trial of Electrodesiccation, Pulsed Dye Laser, and Curettage

BACKGROUND Dermatosis papulosa nigra (DPN) is a common variant of seborrheic keratoses in darkly pigmented individuals. Treatment options include cryosurgery, curettage, electrosurgery, and shave removal. OBJECTIVE To compare the efficacy and complications of pulsed dye laser (PDL) therapy for the treatment of DPN with those of curettage and electrodesiccation. METHODS AND MATERIALS Randomized, controlled, single‐center, evaluator‐blinded trial of 10 patients with at least four clinically diagnosed lesions. RESULTS All 10 patients completed the study. Mean lesion clearance was 96% for curettage, 92.5% for electrodesiccation, and 88% for laser. There was no significant difference between the three treatment modalities. All three techniques had an overall cosmetic outcome of good for most patients. Five of the 10 patients preferred electrodesiccation. Patients rated the laser as the most painful treatment method. The most common adverse outcome was hyperpigmentation. There were no significant differences between the treatment groups for any of the measured outcomes. CONCLUSION The efficacy of PDL in the treatment of DPN is not significantly different from the already established treatment modalities of electrodesiccation and curettage. &NA; The authors have indicated no significant interest with commercial supporters.
Students' Perceptions of School Climate and Trait Test Anxiety

In a sample of 916 Chinese high school students, the relations among the students' perceptions of school climate and their trait test anxiety were examined. The results indicated that students' perceptions of teacher-student relationships and student-student relationships negatively predicted their trait test anxiety. Furthermore, girls had higher scores on trait test anxiety than boys.
On-demand QoS-based routing protocol for ad hoc mobile wireless networks

To explore QoS issue for ad hoc mobile wireless networks is not trivial because of the high mobility of mobile nodes. Based an the DSDV (destination-sequenced distance-vector) routing protocol for maintaining up-to-date route information, previous works on QoS routing for ad hoc mobile wireless networks do require adding an extra bandwidth for exchanging QoS information. However the size and the update frequency of the routing table are increased tremendously with the number of mobile nodes. We propose an on-demand-based QoS routing protocol to achieve the QoS requirement. The goal of this paper is to discover an optimal route with minimum time delay for transmitting real-time data from a source node hop by hop to a destination node under some predefined constraints.
EGR1 and the ERK‐ERF axis drive mammary cell migration in response to EGF

The signaling pathways that commit cells to migration are incompletely understood. We employed human mammary cells and two stimuli: epidermal growth factor (EGF), which induced cellular migration, and serum factors, which stimulated cell growth. In addition to strong activation of ERK by EGF, and AKT by serum, early transcription remarkably differed: while EGF induced early growth response‐1 (EGR1), and this was required for migration, serum induced c‐Fos and FosB to enhance proliferation. We demonstrate that induction of EGR1 involves ERK‐mediated down‐regulation of microRNA‐191 and phosphorylation of the ETS2 repressor factor (ERF) repressor, which subsequently leaves the nucleus. Unexpectedly, knockdown of ERF inhibited migration, which implies migratory roles for exported ERF molecules. On the other hand, chromatin immunoprecipitation identified a subset of direct EGR1 targets, including EGR1 autostimulation and SERPINB2, whose transcription is essential for EGF‐induced cell migration. In summary, EGR1 and the EGF‐ERK‐ERF axis emerge from our study as major drivers of growth factor‐induced mammary cell migration. —Tarcic, G. , Avraham, R. , Pines, G. , Amit, I. , Shay, T. , Lu, Y. , Zwang, Y. , Katz, M. , Ben‐Chetrit, N. , Jacob‐Hirsch, J., Virgilio, L. , Rechavi, G. , Mavrothalassitis, G. , Mills, G. B. , Domany, E. , Yarden, Y. EGR1 and the ERK‐ERF axis drive mammary cell migration in response to EGF. FASEB J. 26, 1582‐1592 (2012). www.fasebj. org
Criteria for Alzheimer's Disease and the Nosology of Dementia with Lewy Bodies

Dementia with brainstem and neocortical Lewy bodies (LB) is a source of ongoing nosologic controversy and confusion.Differing opinions about concomitant Alzheimer's disease (AD) have produced competing nomenclatures. We applied neocortical plaque-based criteria for the diagnosis of AD from the National Institute on Aging and from the Consortium to Establish a Registry for AD for definite, probable, and possible AD to 58 dementia brains with LB, 10 elderly nondemented controls, and 58 brains with neuropathologically pure AD. We also employed diagnostic criteria requiring both neocortical plaques and tangles, and assessed the extent of neurofibrillary pathology in all 126 specimens using a modified version of the Braak and Braak staging protocol for changes related to AD. The percentages of mixed LB disease and AD versus pure LB disease varied from 91% mixed and 9% pure to 34% mixed and 66% pure, depending upon which diagnostic criteria for AD were employed. Most dementia brains with LB occupied higher modified Braak stages than controls, but lower ones than pure AD specimens. A minority of the dementia brains with LB had no more AD-type pathology than controls. NEUROLOGY 1997;48: 126-132
Development of digital experiment system for multi-module-cascaded multilevel high-power inverter

Based on a multi-module-cascaded multilevel inverter structure for the optimization of harmonics, this paper introduces a horizontal phase-shifting sinusoidal pulse width modulation (SPWM) strategy applied to multi-module-cascaded inverter, and at the same time, based on Digital Signal Processor (DSP) and Complex Programmable Logic Device (CPLD), this paper also presents a digital algorithm for horizontal phase-shifting SPWM modulation, which has solved the problem of the exactly lock of each triangular carrier phase in the multi-module-cascaded system. The simulation and experimental results have proven the method proposed correct.
Evaluation of circulating immune complexes and serum immunoglobulins in oral cancer patients--a follow up study.

BACKGROUND High serum immunoglobulins and circulating immune complexes (IgG, IgM, IgA and CIC) values in patients with cancer have been used as tumor markers. Hence, the aim of the study was to estimate these immunological markers in pre- and post-treatment phases with a follow-up of 3-24 months and to understand the prognostic significance of the same in patients with oral cancer. MATERIALS AND METHODS The malignancy group consisted of 56 patients with different stages (AJCC TNM) of oral cancer and 20 healthy control group. Samples were selected at random and subjected for sequential analysis of serum biochemical markers (IgG, IgA, IgM and CIC-circulating immune complexes levels) in the pre- and post-treatment period. Statistical method employed was the paired t test. RESULTS We observed significant elevated levels of all the immunological markers ( P < 0.01) when compared with the control group. Sequential analysis of these markers revealed significant reduction in immunological markers in stage I and II patients. On the contrary, stage III and IV patients showed remarkably elevated levels of IgA and CIC one year after initial treatment. CONCLUSIONS All these immunological markers are indicative of tumor burden and Serum levels of CIC and IgA might be employed as prognostic indicators in oral cancer.
Organizational Culture of Participation: Development and Validation of a Measure

This article specifies the concept of “Organizational Culture of Participation” (OCP) as that part of an organizational culture which is linked to employee participation. Three OCP-types are distinguished by the way participation is promoted and supported in an organizational culture: (1) leader promoted, (2) employee promoted, and (3) institution promoted OCPs – all types are considered to have different processes and outcomes of employee participation. The OCP concept's relevance for research on employee participation and a first validation of this concept is described. For this we developed a measure of OCP and conducted an empirical study to analyze construct, discriminant and incremental validity. After presenting this study implications for future research and of practical relevance are derived.
Modulation of the tumor vasculature functionality by ionizing radiation accounts for tumor radiosensitization and promotes gene delivery

The ultimate goal of radiotherapy is to induce irreversible damages in genetically unstable, fast‐growing cancer cells while minimizing the cytotoxic effects on host tissues. The satus of the tumor vasculature is particular because it is located within the tumor but mostly arises from host cells. The aim of this study was to characterize the effects of low‐dose irradiation on the function of endothelial cells lining tumor vessels. Using isolated arterioles mounted on a pressure myograph, we first documented that the nitric oxide (NO)‐mediated vasorelaxation that was defective in tumor vessels was completely restored following local tumor irradiation. Immunoblot analyses revealed that this was attributable to an increase in the abundance of the endothelial NO synthase while the expression of its physiological inhibitor, caveolin‐1, was reduced. We further showed that the potentiation of the NO‐dependent pathway induced a marked increase in tumor blood flow and oxygenation that determined the higher sensitivity of the tumor to further irradiation. Finally, we documented that the NO‐mediated effects of irradiation on the tumor vasculature increased the delivery and expression of a reporter gene into the tumor. Thus, low‐dose irradiation of endothelial cells within a tumor is a key determinant of the effectiveness of radiotherapy and may offer a new strategy to increase gene and/or drug delivery to the tumor.