Miracle-dz/UniFAR-FTUs huggingface dataset:
Low proportion of whole exon deletions causing phenylketonuria in Denmark and Germany

Phenylketonuria (PKU) is an autosomal recessive genetic disorder caused by mutations of the gene encoding phenylalanine hydroxylase (PAH). More than 500 different PAH mutations have been identified and about 90% of these are single base mutations. Although the identification rate of the PAH mutations is generally very high, some variants remain unidentified. A fraction of these mutations are the result of genomic deletions or duplications, which are not recognized with standard PCR‐based methods. Here we present the results of exon deletion or duplication analysis in a total of 34 families, in which two mutations had not been identified using conventional diagnostic screening techniques. Using multiplex ligation‐dependent probe amplification (MLPA), we found a deletion covering exon 1 and exon 2 (c.1‐? _168+? del) in one patient, a deletion of exon 3 (c.169‐? _352+? del) in four patients, and a deletion of exon 5 (c.442‐? _509+? del) in two patients. A deletion was thus detected in about 20% (7/34) of the families tested. Out of a combined cohort of 570 independent PKU patients from Denmark and Germany, exon deletions were identified in a total of four patients. The estimated allelic frequency of exon deletions in PKU patients in these two populations is therefore below 0.5%. © 2007 Wiley‐Liss, Inc.
Electrical Characteristic Study of an SOI-LIGBT With Segmented Trenches in the Anode Region

This paper presents the electrical characteristic of a 500 V silicon-on-insulator (SOI) lateral insulated-gate bipolar transistor (LIGBT) with segmented trenches in the anode (STA) region. The STA-LIGBT features segmented n+ anodes and segmented trenches. The segmented n+ anodes are shorted to the p+ anode, which accelerates the extraction of stored electrons during the device turn-OFF. The segmented trenches are arranged between the p+ anode and the shorted n+ anode. The resistors between the adjacent segmented trenches and the adjacent segmented n+ anodes contribute to low snapback voltage (VS) while maintain high current density. In addition, an internal diode is formed by introducing the shorted n+ anode. The 3-D simulations and the experiments are carried out to characterize the electrical performances of the STA-LIGBT and its internal diode. Compared with the conventional SOI-LIGBT, the STA device achieves a 73% improvement in turn-OFF time (tOFF) at the same current density. Correspondingly, the internal diode of the STA-LIGBT achieves a forward voltage drop (VF) of 1.32 V and a reverse recovery time (trr) of 321 ns, which are superior to those of a conventional p-i-n SOI diode.
School Psychology in Estonia

This article describes the results of an empirical investigation, studying the expectations for school psychological services of Estonian teachers and school psychologists, and the real problems psychologists deal with in schools (as evaluated by psychologists). 190 teachers and 30 school psychologists were questioned. The results are discussed in international and historical perspective. It was found that the majority of teachers questioned considered having a psychologist in school important or very important. The problems that need the intervention of a psychologist are perceived differently by teachers and psychologists. Teachers tend to consider child-centered services (to deal with pupils' learning, emotional or behavioral problems) while psychologists also stress the importance of helping teachers-to counsel and consult. The real situation as evaluated by the psychologists is more similar to teachers' than to psychologists' evaluations.
C-Reactive Protein Predicts Hematoma Growth in Intracerebral Hemorrhage

Background and Purpose— Early hematoma growth (EHG) occurs in about one third of patients with spontaneous intracerebral hemorrhage. The main aim of this study was to investigate the potential of plasma C-reactive protein (CRP) for predicting EHG after acute spontaneous intracerebral hemorrhage. Methods— Plasma CRP was measured within 6 hours of onset (median, 120 minutes) in 399 patients with primary or vitamin K antagonist–associated spontaneous intracerebral hemorrhage and without recent infection. Computed tomography brain scans were performed at baseline and repeated within 24 hours (median, 22 hours). The primary outcome was EHG, defined as absolute growth >12.5 cm3 or relative growth >33%. Secondary outcomes included early neurological worsening (ENW) using the Glasgow Coma Scale and 30-day mortality. Multivariable regression analyses were used to evaluate associations of CRP concentration and outcomes. Kaplan–Meier analysis was used for survival. Results— EHG occurred in 25.8%, ENW in 19.3%, and mortality was 31.8% at 30 days. Thirty-day mortality was significantly higher in patients with ENW (hazard ratio, 3.21; 95% confidence interval, 2.00–5.17; P<0.0001) and in patients with EHG (hazard ratio, 2.13; 95% confidence interval, 1.42–3.18; P<0.0001, log-rank test). Median CRP was 12 mg/L (interquartile range, 10–17) in the EHG group and 7 mg/L (interquartile range, 4–12.1) in those without EHG (P<0.0001). In multivariable analyses, plasma CRP>10 mg/L independently predicted EHG (odds ratio, 4.71; 95% confidence interval, 2.75–8.06; P<0.0001) and ENW (odds ratio, 2.70; 95% confidence interval, 1.50–4.84; P=0.0009). Conclusions— CRP>10 mg/L is independently predictive of EHG and ENW, both of which are associated with increased mortality. Inflammation may be important in contributing to EHG and warrants further investigation.
Simple and Efficient Mesh Editing with Consistent Local Frames

Mesh editing methods based on differential surface representations are known for their efficiency and ease of implementation. For reconstruction from such representations, local frames have to be determined which is a nonlinear problem. In linear approximations frames can either degenerate or become inconsistent with the geometry. Both results in contra-intuitive deformations. Existing nonlinear approaches, however, are comparatively slow and considerably more complex. In this paper we present a differential representation that implicitly enforces orthogonal and geometry consistent frames while allowing a simple and efficient implementation. In particular, it enforces conformal surface deformations preserving local texture features.
Chronic Conditions and Sleep Problems among Adults Aged 50 years or over in Nine Countries: A Multi-Country Study

Background Data on the association between chronic conditions or the number of chronic conditions and sleep problems in low- or middle-income countries is scarce, and global comparisons of these associations with high-income countries have not been conducted. Methods Data on 42116 individuals 50 years and older from nationally-representative samples of the Collaborative Research on Ageing in Europe (Finland, Poland, Spain) and the World Health Organization's Study on Global Ageing and Adult Health (China, Ghana, India, Mexico, Russia, South Africa) conducted between 2011–2012 and 2007–2010 respectively were analyzed. Results The association between nine chronic conditions (angina, arthritis, asthma, chronic lung disease, depression, diabetes, hypertension, obesity, and stroke) and self-reported severe/extreme sleep problems in the past 30 days was estimated by logistic regression with multiple variables. The age-adjusted prevalence of sleep problems ranged from 2.8% (China) to 17.0% (Poland). After adjustment for confounders, angina (OR 1.75–2.78), arthritis (OR 1.39–2.46), and depression (OR 1.75–5.12) were significantly associated with sleep problems in the majority or all of the countries. Sleep problems were also significantly associated with: asthma in Finland, Spain, and India; chronic lung disease in Poland, Spain, Ghana, and South Africa; diabetes in India; and stroke in China, Ghana, and India. A linear dose-dependent relationship between the number of chronic conditions and sleep problems was observed in all countries. Compared to no chronic conditions, the OR (95%CI) for 1,2,3, and≥4 chronic conditions was 1.41 (1.09–1.82), 2.55 (1.99–3.27), 3.22 (2.52–4.11), and 7.62 (5.88–9.87) respectively in the overall sample. Conclusions Identifying co-existing sleep problems among patients with chronic conditions and treating them simultaneously may lead to better treatment outcome. Clinicians should be aware of the high risk for sleep problems among patients with multimorbidity. Future studies are needed to elucidate the best treatment options for comorbid sleep problems especially in developing country settings.
Controlling variables eliminates hemianopsia rehabilitation results

articles once they have been circulated for Commentary. If any commentator feels that this compromise has substantively affected his contribution, he will be given the opportunity to rectify this in Continuing Commentary. previous authors who had described blindsight and those who described visual field increases with training in hemianopic patients. Our results suggest, in addition, that patients develop eye movement strategies (such as, for example, eccentric fixation), rather than a real increase in visual fields.
Adenosine deaminase-related growth factors stimulate cell proliferation in Drosophila by depleting extracellular adenosine

We describe a protein family in Drosophila containing six adenosine deaminase-related growth factors (ADGFs), which are homologous to a mitogenic growth factor discovered in conditioned medium from cells of a different fly species, Sarcophaga. Closely related proteins have been identified in other animals, and a human homolog is implicated in the genetic disease Cat-Eye Syndrome. The two most abundantly expressed ADGFs in Drosophila larvae are ADGF-A, which is strongly expressed in the gut and lymph glands, and ADGF-D, which is mainly expressed in the fat body and brain. Recombinant ADGF-A and ADGF-D are active adenosine deaminases (ADAs), and they cause polarization and serum-independent proliferation of imaginal disk and embryonic cells in vitro. The enzymatic activity of these proteins is required for their mitogenic function, making them unique among growth factors. A culture medium prepared without adenosine, or depleted of adenosine by using bovine ADA, also stimulates proliferation of imaginal disk cells, and addition of adenosine to this medium inhibits proliferation. Thus ADGFs secreted in vivo may control tissue growth by modulating the level of extracellular adenosine.
The role of parenting, attachment, and temperamental fearfulness in the prediction of compliance in toddler girls

The development, antecedents, and concomitants of committed compliance in the second year of life were investigated, with a special emphasis on the influences of parental discipline and sensitivity, attachment security, and temperamental fearfulness. At 16 and at 22 months, 125 first-born girls from middle-class families were observed in their homes and in the laboratory. Committed compliance was assessed in a clean-up task ('do' task), and in a task in which the children were asked to refrain from touching attractive toys ('don't' task). Temperamental fearfulness was observed when the children were confronted with seven somewhat scary items, such as a stethoscope and a rubber bird of prey. Attachment security was assessed with the Strange Situation procedure, and parental discipline and sensitivity measures were derived from home and lab observations in problem-solving and limit-setting situations. Maternal sensitivity during a puzzle task was related to more compliance of the child to her prohibitions, and maternal intrusiveness was associated with less compliance to maternal requests. Committed compliance was associated with concurrent parenting, attachment, and temperament. Controlling for concurrent parenting, attachment, and temperament, we did not find any significant associations between antecedent parenting and later compliance. Our data failed to support Kochanska's (1995, 1997) model of the impact of antecedent socialization and temperament on emergent morality.
Associations between Chinese EFL graduate students' beliefs and language learning strategies

This study, using Horwitz's Beliefs about Language Learning Inventory and Oxford's Strategy Inventory for Language Learning, investigated learners' beliefs about language learning and their choice of strategy categories among 546 graduate students in China. The correlation between learners' beliefs and their strategy categories use was examined. Findings indicated that (1) statistically significant differences existed in different gender and language proficiency level regarding learners' beliefs; (2) statistically significant difference appeared in different gender, major, age range plus proficiency level concerning the use of strategy categories; (3) except for the difficulty of language learning, learners' beliefs about language learning were significantly correlated with the use of the six strategy categories. The overall findings of the study provide suggestions to help foreign language instructors and researchers better understand graduate students' perceived beliefs and strategy use, so that classroom instruction can be as effective and productive as possible.
Identification of abnormal gene expression in bovine transgenic somatic cell nuclear transfer embryos

This study was conducted to investigate the expression of three genes related to early embryonic development in bovine transgenic cloned embryos. To accomplish this, development of bovine transgenic somatic cell nuclear transfer (SCNT) embryos was compared with non-transgenic embryos. Next, mRNA transcription of three specific genes (DNMT1, Hsp 70.1, and Mash2) related to early embryo development in transgenic SCNT embryos was compared between transgenic and non-transgenic SCNTs, parthenogenetic embryos, and in vitro fertilization (IVF) embryos. Transgenic SCNT embryos showed significantly lower rates of development to the blastocyst stage than non-transgenic ones. To investigate normal gene expression, RNA was extracted from ten blastocysts derived from parthenogenesis, IVF, non-transgenic, and transgenic SCNT embryos and reverse-transcribed to synthesize cDNA. The cDNA was then subjected to PCR amplification and semi-quantified. More DNMT1 mRNA was detected in the transgenic SCNT group than the other three groups. Hsp 70.1 mRNA was detected in the IVF embryos, while lower levels were found in SCNT and parthenogenetic embryos. Mash2 mRNA was present at the highest levels in transgenic SCNT embryos. In conclusion, the higher levels of methylation and lower protein synthesis after heat shock in the transgenic SCNT embryos expected based on our results may cause lower embryonic development.
The use of human tumour cell lines in the discovery of new cancer chemotherapeutic drugs

Background: Human tumour cell lines have played a major role in anticancer drug discovery, but cell lines may model only some aspects of tumour behaviour in cancer patients. Growing evidence supports a theory that stem cells with self-renewing properties sustain tumours. Objective: This review considers the extent to which a deeper understanding of the origin and properties of tumour cell lines might lead to new strategies for anticancer drug discovery. Methods: Recent literature on normal and tumour stem cells is reviewed and placed in the context of a discussion on the derivation and properties of tumour cell lines. Results/conclusion: Early-passage cell lines may model the more rapidly proliferating cells in human tumours and, thus, retain some of the properties of tumour stem cells. The effects of anticancer drugs on cell lines should be considered not only with regards to the induction of apoptosis, but also to the induction of senescence or other pathways that lead to host immune and inflammatory responses.
SDO : A Statistical Method for Global Optimization

An algorithm for nding global optima using statistical prediction is presented. Assuming a random function model, lower conndence bounds on predicted values are used for sequential selection of evaluation points and as a convergence criterion. Performance comparision with published results on several test functions indicate that the procedure is very eecient in nding the global optimum of a multimodal function, and in terminating with relatively few evaluations. The statistical computations involve linear algebra operations which are readily vectorized and is easy to adapt to parallel processing environments.
Sexual Orientation Microaggressions: “Death by a Thousand Cuts” for Lesbian, Gay, and Bisexual Youth

In recent years, there has been a growth of literature examining the mental health impacts of microaggressions, which are defined as subtle forms of discrimination toward oppressed groups. The current study utilized a qualitative focus group method and directed content analysis to categorize several types of sexual orientation microaggressions that exist. Eight themes were identified, including “Use of heterosexist terminology” and “Endorsement of heteronormative culture/behaviors. ” Results suggest that lesbian, gay, and bisexual (LGB) individuals experience both conscious and unconscious microaggressions from heterosexuals and support that microaggressions negatively impact LGB individual's mental health. Implications for youth development are discussed.
Community acquired diarrhea--the incidence of Astrovirus infections in Germany.

Astroviruses are increasingly recognized as a cause of human gastroenteritis. Electron microscopy (EM) has been considered the "gold standard" method for diagnosis, but this approach is limited to a few laboratories. We evaluated a commercial enzyme immunoassay (EIA) (IDEIA Astrovirus, DAKO Diagnostika, Hamburg, Germany) for the direct detection of antigen in fecal samples. In comparison to EM, the assay scored 100% in sensitivity and specificity (n = 213; 26 positive samples) and reacted with strains representing all known serotypes. Over an 11-month period 4,211 stool samples from unselected German patients suffering from acute gastroenteritis were examined. Etiologically responsible microorganisms were found in 13.0% of cases, with astrovirus the third most common pathogen (1.2%) behind Salmonella spp. (2.9%) and Rotavirus (2.5%), representing 13.5% of all positive specimens. Norwalk-like viruses (NLV), fungi, and protozoa were not tested. In infants of < 2 years of age (n = 458) the incidence of astrovirus infection was significantly higher (2.8%) compared to children of 2-7 years of age (n = 578; 1.7%) and those of > 7 years of age (n = 3,175; 0.9%). The frequency revealed a peak in winter (mean November-February: 2.0% versus other months: 0.8%).
Conductance Along the Interface Formed by 400 °C Pure Boron Deposition on Silicon

The conductance along the interface between an as-deposited pure boron layer and n-type Si, fabricated at 400 °C, is found to be reliably formed with high-ohmic sheet resistance values going from ~30 kΩ/sq to 1 MΩ/sq, depending on the exact substrate doping and biasing. The temperature coefficient is negative. It is proposed that this behavior is due to an interface monolayer of electron-filled acceptor states attracting an inversion layer of holes that provide ideal p+n junction behavior and lateral carrier transport unperturbed by interface defects.
Emotions as Moderators of Information Cue Use

Despite the extensive literature on the effects of party and other information cues on citizens' attitudes and behaviors, there exists little evidence and theory on how individuals balance multiple sources of information, particularly in the domain of blame attribution. Furthermore, we have a limited understanding of what individual characteristics moderate the use of such information. We designed a survey experiment, administered to a nationally representative population, in which respondents ranked public officials in order of how much they should be blamed for the property damage and loss of life in New Orleans after Hurricane Katrina. We manipulated the information provided to respondents, with some receiving the officials' party affiliations, others receiving their job titles, and others receiving both cues. We find that strong negative emotions such as anger and sadness facilitate the prioritization of heuristics used in peripheral-route cognitive processing, whereas weak emotional reactions result in more content-rich, central-route processing.
Prosodic features and formant modeling for an ivector-based language recognition system

The prosody of a language is encoded in syllable length, loudness and pitch. These attributes make humans perceive rhythm, stress and intonation in speech. Depending on the language, these speech properties vary, making language classification possible. On the other hand, formants are the resonance frequencies of the vocal tract, depend heavily on the position adopted by the articulatory organs, and are especially useful to disambiguate vowel sounds. In this paper prosodic and formant information are combined to build a generative language identification system based on Gaussian models fed with iVectors. The system is evaluated on the NIST LRE09 database and the inclusion of formant information gives about 50% relative improvement for the 30 s task over a prosodic system without it. The fusion with a state-of-the-art acoustic system based on shifted delta cepstral coefficients (SDC) shows the complementarity of both approaches.
Endoscopic retrograde cholangiopancreatography in pancreatic and biliary tract disease in Korean children.

AIM To assess the indications, findings, therapeutic procedures, safety, and complications of endoscopic retrograde cholangiopancreatography (ERCP) performed in Korean children. METHODS The demographic characteristics, indications for ERCP, findings, therapeutic procedures, and complications of 122 pediatric patients who underwent 245 ERCPs in the Asan Medical Center between June 1994 and March 2008 were investigated. RESULTS The mean age of the 122 patients was 8.0 +/- 4.2 years. Indications were biliary pathology in 78 (64.0%), pancreatic pathology in 43 (35.2%), and chronic abdominal pain in one. Biliary indications included choledochal cysts in 40, choledocholithiasis in 24, suspected sclerosing cholangitis in 8, trauma in 2, and other conditions in 4. Pancreatic indications included acute pancreatitis in 7, acute recurrent pancreatitis in 11, chronic pancreatitis in 20, trauma in 3, and pancreatic mass in 2. Of the 245 ERCPs, success rate was 98.4% and 190 (77.6%) were for therapeutic purposes, including endoscopic nasal drainage (51.8%), biliary sphincterotomy (38.0%), pancreatic sphincterotomy (23.3%), stent insertion (15.1%), stone extraction (18.8%), and balloon dilatation (11.0%). Complications were post-ERCP pancreatitis in 16 (6.5%), ileus in 23 (9.4%), hemorrhage in 2 (0.8%), perforation in 2 (0.8%), sepsis in 1 (0.4%), and impacted basket in 1 (0.4%). There were no procedure-related deaths, and most complications improved under supportive care. CONCLUSION This study showed that there is a high incidence of choledochal cyst and diagnostic and therapeutic ERCP for the management of various biliary and pancreatic diseases was safe and effective in Korean children.