Miracle-dz/UniFAR-FTUs huggingface dataset:
Novel association of RP1 gene mutations with autosomal recessive retinitis pigmentosa

Retinitis pigmentosa (RP) is the most prevalent hereditary retinal degenerative disease. To date, approximately 40 loci and mutations in more than 25 genes have been identified as the cause of various types of RP.1 The gene for human oxygen regulated photoreceptor protein ( RP1 ) encodes a protein of 2156 amino acids that is localised in the connecting cilia of both rod and cone photoreceptors.2 The RP1 protein is required for the morphogenesis of the outer segments of the photoreceptor cells.3,4 Several laboratories have found mutations in the RP1 gene to be the cause of autosomal dominant retinitis pigmentosa (adRP). 5–7 However, to our knowledge, association of the RP1 gene with recessive RP has never been reported. The aim of the present study was to map the disease locus for three consanguineous Pakistani families suffering from RP. We present mapping of these autosomal recessive RP families to the 8q11 locus. The results show, for the first time, that in these families a form of arRP is caused by homozygous mutations of the RP1 gene. Although these mutations were found in the parents and some of the siblings who had normal vision (carriers) in a heterozygous state, they were not found in any of a panel of 100 normal controls. We studied three consanguineous Pakistani families (442RP, 452RP, and 336RP) suffering from autosomal recessive RP (fig 1). The patients had night blindness since early childhood and progressive deterioration of vision with age. All the patients were completely blind by the age of 12–15 years in the case of the 442RP and 452RP families and 17–18 years in the 336RP family. Fundoscopic examination and electroretinographic (ERG) analyses were carried out on all the patients, their heterozygous parents and siblings, and unaffected normal siblings. Figure 1 Pedigrees of autosomal recessive RP families …
Spectral sensitivity of cones of the monkey Macaca fascicularis.

1. Spectral sensitivities of cones in the retina of cynomolgus monkeys were determined by recording photocurrents from single outer segments with a suction electrode. 2. The amplitude and shape of the response to a flash depended upon the number of photons absorbed but not the wave‐length, so that the 'Principle of Univariance' was obeyed. 3. Spectra were obtained from five 'blue', twenty 'green', and sixteen 'red' cones. The wave‐lengths of maximum sensitivity were approximately 430, 531 and 561 nm, respectively. 4. The spectra of the three types of cones had similar shapes when plotted on a log wave number scale, and were fitted by an empirical expression. 5. There was no evidence for the existence of subclasses of cones with different spectral sensitivities. Within a class, the positions of the individual spectra on the wave‐length axis showed a standard deviation of less than 1.5 nm. 6. Psychophysical results on human colour matching (Stiles & Burch, 1955; Stiles & Burch, 1959) were well predicted from the spectral sensitivities of the monkey cones. After correction for pre‐retinal absorption and pigment self‐screening, the spectra of the red and green cones matched the respective pi 5 and pi 4 mechanisms of Stiles (1953, 1959).
Viability of Fat Cells Over Time After Syringe Suction Lipectomy: The Effects of Cryopreservation

The purpose of this study was to determine the late decline in viability of fat cells over time for fat tissue stored at −15°C and −70°C after harvest from abdominal liposuction. A total of 16 females were recruited for this study. The viability of fat cell specimens was measured after freezing for 1, 3, 7, 14, 28, and 56 days. A number of viable mature adipocytes were evaluated by fluorescence microscopy after staining with fluorescein diacetate and propidium iodide. The glycerol-3-phosphate dehydrogenase activity was measured in lipoaspirates before digestion and the XTT reduction assay was performed. In addition, the XTT reduction assay was also performed on isolated lipocytes and preadipocytes.The viability of mature adipocytes was very low for both the −15°C and −70°C samples after 1 day of freezing (13.3% ± 7.4% and 12.6% ± 6.3%, respectively). There was no statistically significant difference between the samples stored at the 2 temperatures. The GPDH activity of the lipoaspirates frozen, for 1 day, at −15°C and −70°C was 25.1% ± 10% and 28.7% ± 11%, respectively. For the XTT test, the fractional enzyme activity of the lipoaspirates frozen, for 1 day, at −15°C and −70°C was 30.0% ± 10.9% and 36.1% ± 12.3%, respectively. In addition, the adipocytes had low activity from day one: 15.4% ± 7.2% at −15°C and 11.5% ± 5.6% at −70°C. Furthermore, the preadipocytes had a low activity of 8.0% ± 6.0% at −15°C and 8.6% ± 3.8% at −70°C. At 8 weeks, there were few viable mature adipocytes and the activity of the cells was very low by XTT and GPDH testing.The results of this study showed that the viability of adipocytes declined rapidly after frozen storage for 1 day at both −15°C and −70°C, and decreased gradually in storage after 8 weeks; at which time only approximately 5% of the fat cells were alive. These findings suggest that the present fat preservation storage techniques using a −15°C freezer or a −70°C deep freezer are both inadequate to maintain the viability of fat cells.
Translating Collocations for Bilingual Lexicons: A Statistical Approach

Collocations are notoriously difficult for non-native speakers to translate, primarily because they are opaque and cannot be translated on a word-by-word basis. We describe a program named Champollion which, given a pair of parallel corpora in two different languages and a list of collocations in one of them, automatically produces their translations. Our goal is to provide a tool for compiling bilingual lexical information above the word level in multiple languages, for different domains. The algorithm we use is based on statistical methods and produces p-word translations of n-word collocations in which n and p need not be the same. For example, Champollion translates make.decision, employment equity, and stock market into prendre.decision, equite en matiere d'emploi, and bourse respectively. Testing Champollion on three years' worth of the Hansards corpus yielded the French translations of 300 collocations for each year, evaluated at 73% accuracy on average. In this paper, we describe the statistical measures used, the algorithm, and the implementation of Champollion, presenting our results and evaluation.
Primary structure of xylene monooxygenase: similarities to and differences from the alkane hydroxylation system

Xylene monooxygenase, encoded by the TOL plasmid of Pseudomonas putida, catalyzes the oxidation of toluene and xylenes and consists of two different subunits encoded by xylA and xylM. In this study, the complete nucleotide sequences of these genes were determined and the amino acid sequences of the xylA and xylM products were deduced. The XylM sequence had a 25% homology with alkane hydroxylase, which catalyzes the omega-hydroxylation of fatty acids and the terminal hydroxylation of alkanes. The sequence of the first 90 amino acids of XylA exhibited a strong similarity to the sequence of chloroplast-type ferredoxins, whereas the rest of the XylA sequence resembled that of ferredoxin-NADP+ reductases. Based on this information, the structure and function of xylene monooxygenase were deduced. XylM may be a catalytic component for the hydroxylation of the carbon side chain of toluene and xylenes and, as is the alkane hydroxylase protein, may be a membrane-bound protein containing ferrous ion as a prosthetic group. XylA may have two domains consisting of an N-terminal region similar to chloroplast-type ferredoxins and a C-terminal region similar to ferredoxin-NADP+ reductases. The ferredoxin portion of XylA may contain a [2Fe-2S] cluster and reduce the oxidized form of the XylM hydroxylase. The activity determined by the C-terminal region of the XylA sequence may be the reduction of the oxidized form of ferredoxin by concomitant oxidation of NADH.
Effects of a new combination of nutraceuticals on postmenopausal symptoms and metabolic profile: a crossover, randomized, double-blind trial

Objectives This study was designed to measure the beneficial effects of a combination of nutraceutics (NUT; AkP04, Morestril®, Akademy Pharma) containing soy isoflavones (80 mg), dry extract of Angelica sinensis (50 mg), dry extract of Morus alba leaf (200 mg) and magnesium (56.25 mg) in the relief of somatic, psychological, and urogenital symptoms in postmenopausal patients, using the validated Menopause Rating Scale (MRS) and cardiovascular risk factors. Materials and methods A total of 43 symptomatic postmenopausal women (MRS ≥20) were enrolled in a crossover trial. After a 2-week run-in period, patients were randomized into two arms. One arm received probiotics plus placebo over 4 weeks, followed by a 4-week treatment with probiotics plus NUT. The second arm received probiotics plus NUT for 4 weeks, followed by a 4-week treatment with probiotics plus placebo. Results After the NUT period, participants showed a significant reduction in MRS score (18.4±5.4) in comparison to baseline (28.4±5) and the placebo period (28±5.2) (P<0.0001 for both comparisons). Furthermore, at the end of the active-treatment period, we observed a significant reduction in triglycerides, total and low-density lipoprotein cholesterol plasma levels and an increase in high-density lipoprotein cholesterol plasma concentration versus baseline and versus placebo (all P<0.04). Moreover, during the NUT period, we detected a significant reduction in diastolic blood pressure in comparison to baseline, but not in comparison to the placebo period. Conclusion This NUT combination was effective for the relief of menopause symptoms in postmenopausal patients and improved their cardiovascular risk profile.
Evaluating the STANDUP Pun Generating Software with Children with Cerebral Palsy

The interactive STANDUP software was developed to provide children who use augmentative and alternative communication (AAC) with a “language playground. ” The software provides appropriate functionality for users with physical, speech, and language impairments to generate and tell novel punning riddles at different levels of complexity. STANDUP was evaluated with nine children with cerebral palsy during an eight-week study. Results show that the participants were able to generate and tell novel jokes with minimal or no support. The use of STANDUP impacted favorably on general AAC use. The study results also suggested that STANDUP could potentially have a positive effect on social and pragmatic skills. Further research to investigate the impact of STANDUP on communication skills is proposed. Suggestions for future software development include providing users with opportunities to complete jokes and to integrate online dictionaries when new vocabulary is encountered.
Characterization of a Chicken Embryo-Adapted H9N2 Subtype Avian Influenza Virus

The low pathogenic avian influenza (LPAI) caused by H9N2 virus has generated economic losses in the Ko- rean poultry industry since 1999, but field isolates could not be used for killed oil emulsion vaccine directly because of low productivity in embryonated chicken eggs (ECE). Therefore, we established a vaccine strain, KBNP-0028, by passage through ECE with allantoic fluid showing the highest volume and titer. KBNP-0028 possessed 158 N-glycan on hemag- glutinin (HA) as its parent strain, but acquired a 16 amino acid deletion in the stalk region of neuraminidase (16-del NA) as a result of balancing with the glycosylated HA. KBNP-0028 was sufficiently productive in ECE to be compared with the A/Puerto Rico/8/34 (PR8) strain and immunogenic enough to induce high antibody titers. The antibodies inhibited hemagglutination of recent field isolates as highly as they inhibited KBNP-0028. Genome analysis revealed that KBNP- 0028 carried no known mutation relevant to virulence in mammalian. In conclusion, KBNP-0028 is a promising vaccine candidate for prevention of the LPAI in the Republic of Korea.
Influence of presence or absence of keratinized mucosa on the alveolar bony crest level as it relates to different buccal marginal bone thicknesses. An experimental study in dogs.

OBJECTIVE To investigate the influence of the presence or absence of keratinized mucosa on the alveolar bony crest level as it relates to different buccal marginal bone thicknesses. MATERIAL AND METHODS In six beagle dogs, the mandibular premolars and first molars were extracted bilaterally. In the right side of the mandible (test), flaps were elevated, and the buccal as well as part of the lingual masticatory mucosa was removed. The flap was released coronally to allow a primary wound closure. In the left side, the wounds were left unsutured with the keratinized mucosa remaining (control). After 3 months of healing, a complete absence of keratinized mucosa was found at the test sites. Two recipient sites were prepared at each side of the mandible, one in the premolar and one in the molar region. A buccal bony ridge width of approximately 1 and 2 mm was obtained at the premolar and molar region, respectively. Implants were installed with the shoulder flush with the buccal alveolar bony crest, and abutments were connected to allow a nonsubmerged healing. At least 2 mm of keratinized mucosa was surrounding the control sites, while at the test sites, the implants were bordered by alveolar mucosa. After 3 months, the animals were euthanized and ground sections obtained. RESULTS A higher vertical bony crest resorption was observed at the test compared with the control sites both at the premolar and molar regions, the differences being statistically significant. The top of the peri-implant mucosa was located more coronally at the control compared with the test sites. The horizontal resorption measured 1 mm below the implant shoulder was similar at the test and control sites. Only limited differences were found between premolar and molar sites, with the exclusion of the horizontal resorption that was higher at the test compared with the control sites. CONCLUSIONS A higher alveolar buccal bony crest resorption and a more apical soft tissue marginal position should be expected, when implants are surrounded with thin alveolar mucosa at the time of installation, independently of the thickness of the buccal bony crest.
Multiple Measures in Placement Recommendations: An Examination of Variables Related to Course Success.

A study was conducted at Antelope Valley College in California to explore the use of multiple measures in placement recommendations by examining variables potentially associated with success in writing, reading, and math courses. The study sample was all students who were assessed and enrolled in reading and writing courses in fall 1990, spring 1991, fall 1992, and spring 1993; and students enrolled in math courses in fall 1993 and spring 1994. Variables examined for their relationship with course success were age, high school grade point average (GPA), high school completion status, recency of formal schooling, years of high school English, grade in last English and math classes, highest 'evel math class completed, recency of last math class, units planned and work hours planned. Chi-square analyses indicated that: (1) for writing courses, grade in last English class, units planned, and recency of schooling were strongly associated with success; (2) for reading courses, years of high school English, work hours planned, and recency of schooling were strongly associated with success; and (3) for math courses, success was strongly associated with high school grade point average, highest math class completed, grade in last math class, units planned, and recency of schooling. A number of cases were examined to measure thL impact of multiple measures on placement recommendations, revealing that the majority of impact from this weighting falls on borderline scores. Though multiple measures are applied at the front end of the process, placement recommendations can be appealed through the prerequisite challenge process. (KP) *********************************************************************** Reproductions supplied by EDRS are the best that can be made from 0-1 original document. *******************************************************************
Untangling the wires: A strategy to trace functional interactions in signaling and gene networks

Emerging technologies have enabled the acquisition of large genomics and proteomics data sets. However, current methodologies for analysis do not permit interpretation of the data in ways that unravel cellular networking. We propose a quantitative method for determining functional interactions in cellular signaling and gene networks. It can be used to explore cell systems at a mechanistic level or applied within a “modular” framework, which dramatically decreases the number of variables to be assayed. This method is based on a mathematical derivation that demonstrates how the topology and strength of network connections can be retrieved from experimentally measured network responses to successive perturbations of all modules. Importantly, our analysis can reveal functional interactions even when the components of the system are not all known. Under these circumstances, some connections retrieved by the analysis will not be direct but correspond to the interaction routes through unidentified elements. The method is tested and illustrated by using computer-generated responses of a modeled mitogen-activated protein kinase cascade and gene network.
Potential Empathy Deficits, Motivations, and Desistence in Traditional and Cyber Bullies

Potential Empathy Deficits, Motivations, and Desistence in Traditional and Cyber Bullies Colleen M. Keelan Bullying is a serious phenomenon that includes behaviors conducted in a variety of mediums, including face-to-face (i.e. traditional bullying) and through technology (i.e. cyberbullying). This study examined differences between traditional bullies and cyberbullies in empathy deficits, motivation to engage in bullying behavior, and reasons for desistence of bullying behavior. The Olweus Bully/Victim Questionnaire was used to assess traditional bullying whereas the Internet Experience Questionnaire was used to assess cyberbullying. In a sample of 288 college students, there was no significant differences in total empathy, affective empathy, or cognitive empathy, between traditional bullies (N = 41), cyberbullies (N = 48), victims (N = 110), and controls (N = 89). Empathy deficits were assessed using the Basic Empathy Scale. A significant gender difference was found, with women demonstrating higher levels of empathy than men. When asked why he/she engaged in traditional and cyber bullying behaviors, 33% of cyberbullies denied the behaviors (i.e. “I would never do that”), whereas only 14% of traditional bullies responded with a statement of denial. Traditional bullies’ most common motivation was peer pressure. In regards to desistence, cyberbullies again denied the behavior most frequently and traditional bullies reported that they gained self-awareness. These findings suggest that more research is needed to determine if empathy is an important construct to target in bullying interventions. Also, cyberbullies’ denial of the bullying behavior suggests that more education about these behaviors is necessary
The Dimensions of Schizophrenia Phenomenology Not one or two, at least three, perhaps four

Background This confirmatory investigation examined the underlying structure of schizophrenia phenomenology through examination of the fit of several prominent dimensional models to observed symptom data. Method Confirmatory factor analysis was conducted on a correlation matrix of schizophrenia signs and symptoms derived from case history ratings of 192 individuals with schizophrenia who were the subjects in the major twin studies of schizophrenia. Results Schizophrenia phenomenology appears best described by four underlying factors, namely negative symptoms, premorbid social adjustment deficits, reality distortion, and disorganisation. Of interest, the premorbid deficit dimension was directly associated with negative symptoms and disorganisation, but was inversely associated with reality distortion. Conclusions These data clearly support the multidimensionality of schizophrenia phenomenology and provide objective support for a four-factor model over other models. This four-factor model may be useful in organising existing and future data concerning the genetic, neurobiological, neurological, and psychosocial features of schizophrenia.
Sample size requirements for association studies of gene-gene interaction.

In the study of complex diseases, it may be important to test hypotheses related to gene-gene (G x G) interaction. The success of such studies depends critically on obtaining adequate sample sizes. In this paper, the author investigates sample size requirements for studies of G x G interaction, focusing on four study designs: the matched-case-control design, the case-sibling design, the case-parent design, and the case-only design. All four designs provide an estimate of interaction on a multiplicative scale, which is used as a unifying theme in the comparison of sample size requirements. Across a variety of genetic models, the case-only and case-parent designs require fewer sampling units (cases and case-parent trios, respectively) than the case-control (pairs) or case-sibling (pairs) design. For example, the author describes an asthma study of two common recessive genes for which 270 matched case-control pairs would be required to detect a G x G interaction of moderate magnitude with 80% power. By comparison, the same study would require 319 case-sibling pairs but only 146 trios in the case-parent design or 116 cases in the case-only design. A software program that computes sample size for studies of G x G interaction and for studies of gene-environment (G x E) interaction is freely available (http://hydra.usc.edu/gxe).
Protoclusters with evolved populations around radio galaxies at z∼ 2.5

We report the discovery of protocluster candidates around high-redshift radio galaxies at z ∼ 2.5 on the basis of clear statistical excess of colour-selected galaxies around them seen in the deep near-infrared imaging data obtained with CISCO on the Subaru Telescope. We have observed six targets, all at similar redshifts at z ∼ 2.5, and our data reach J = 23.5, H = 22.6 and K = 21.8 (5σ) and cover a 1.6 x 1.6 arcmin 2 field centred on each radio galaxy. We apply colour cuts in JHK bands in order to exclusively search for galaxies located at high redshifts, z > 2. Over the magnitude range of 19.5 2.3 by a factor of 2 around the combined radio galaxies fields compared to those found in the general field of the Great Observatories Origins Deep Survey-South (GOODS-S). The excess of galaxies around the radio galaxies fields becomes more than a factor of 3 around 19.5 < K < 20.5 when the two-colour cuts are applied with JHK bands. Such overdensity of the colour-selected galaxies suggests that those fields tend to host high-density regions at high redshifts, although there seems to be the variety of the density of the colour-selected galaxies in each field. In particular, two radio galaxies fields out of the six observed fields show very strong density excess and these are likely to be protoclusters associated with the radio galaxies which would evolve into rich clusters of galaxies dominated by old passively evolving galaxies.