Miracle-dz/UniFAR-FTUs huggingface dataset:
Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndrome

Persistent hyperphosphatasia associated with developmental delay and seizures was described in a single family by Mabry et al. 1970 (OMIM 239300), but the nosology of this condition has remained uncertain ever since. We report on five new patients (two siblings, one offspring of consanguineous parents, and two sporadic patients) that help delineate this distinctive disorder and provide evidence in favor of autosomal recessive inheritance. Common to all five new patients is facial dysmorphism, namely hypertelorism, a broad nasal bridge and a tented mouth. All patients have some degree of brachytelephalangy but the phalangeal shortening varies in position and degree. In all, there is a persistent elevation of alkaline phosphatase activity without any evidence for active bone or liver disease. The degree of hyperphosphatasia varies considerably (∼1.3–20 times the upper age‐adjusted reference limit) between patients, but is relatively constant over time. In the first family described by Mabry et al. 1970 , at least one member was found to have intracellular inclusions on biopsy of some but not all tissues. This was confirmed in three of our patients, but the inclusions are not always observed and the intracellular storage material has not been identified. © 2010 Wiley‐Liss, Inc.
Effects of Dilute Acid Pretreatment on Chemical and Physical Properties of Kenaf Biomass

In the current research, kenaf represents an agricultural biomass that possesses enormous potential for industrial applications. Because of its complex structure, which is composed of cellulose, hemicellulose, and lignin, pretreatment process was conducted. Here, dilute acid pretreatment process was conducted, statistically using the response surface method, which included three parameters: mass of biomass (g), temperature (°C), and time (min). About 2 g of kenaf biomass was treated with 2% dilute sulphuric acid, and it was found to have higher glucose conversion (25.3%) when the process was conducted for 60 min at the temperature of 180°C. The main aim of the current research is to investigate the chemical and physical changes of kenaf biomass before and after the pretreatment. The changes could be clearly seen in the cellulose, hemicellulose, and lignin composition before and after the pretreatment, which were evaluated via TAPPI standard test methods. Morphological observation under scanning electron microscope confirmed the changes that took place on the kenaf biomass from complex to simple surface structure. Fourier transform infrared analysis confirmed the presence of cellulose, hemicellulose, and lignin contents of the kenaf biomass before and after pretreatment. Crystallinity of the treated kenaf biomass also increased from 46.6% to 70.0%, as evidenced from X-ray diffractometer analysis.
Health Behavior Risk Factors Across Age as Predictors of Cardiovascular Disease Diagnosis

Objectives: The current study examines the prevalence of health risk behaviors and their cumulative effects on cardiovascular disease (CVD) among a sample of adults. Age cohort is also examined to determine the role of age in predicting CVD and risky health behaviors. Method: Medical records of a sample of adults from the Seattle Longitudinal Study categorized into one of four age-group cohorts were examined. Data regarding participants' health risk behaviors were examined individually and cumulatively for predicting later CVD diagnosis. Results: The prevalence of CVD increases with age, obesity, and risky medical checkups. Female risky sleepers are more likely to receive a CVD diagnosis than men who report risky sleep patterns (p < .05). Discussion: A high risk of CVD appears to exist for adults across the life span, and several risky health behaviors also seem to place individuals more at risk for being diagnosed with CVD.
Phage-Type RNA Polymerase RPOTmp Transcribes the rrn Operon from the PC Promoter at Early Developmental Stages in Arabidopsis1[C][W]

The plastid genome of higher plants is transcribed by two different types of RNA polymerases named nucleus encoded RNA polymerase (NEP) and plastid encoded RNA polymerase. Plastid encoded RNA polymerase is a multimeric enzyme comparable to eubacterial RNA polymerases. NEP enzymes represent a small family of monomeric phage-type RNA polymerases. Dicotyledonous plants harbor three different phage-type enzymes, named RPOTm, RPOTp, and RPOTmp. RPOTm is exclusively targeted to mitochondria, RPOTp is exclusively targeted to plastids, and RPOTmp is targeted to plastids as well as to mitochondria. In this article, we have made use of RPOTp and RPOTmp T-DNA insertion mutants to answer the question of whether both plastid-located phage-type RNA polymerases have overlapping or specific functions in plastid transcription. To this aim, we have analyzed accD and rpoB messenger RNAs (mRNA; transcribed from type I NEP promoters), clpP mRNA (transcribed from the −59 type II NEP promoter), and the 16S rRNA (transcribed from the exceptional PC NEP promoter) by primer extension. Results suggest that RPOTp represents the principal RNA polymerase for transcribing NEP-controlled mRNA genes during early plant development, while RPOTmp transcribes specifically the rrn operon from the PC promoter during seed imbibition.
Blockade of ionotropic glutamate receptors produces neuronal apoptosis through the Bax‐cytochrome C‐caspase pathway: the causative role of Ca2+ deficiency

Blockade of ionotropic glutamate receptors induces neuronal cell apoptosis. We investigated if mitochondria‐mediated death signals would contribute to neuronal apoptosis following administration of glutamate antagonists. The administration of MK‐801 and CNQX (MK‐801/CNQX), the selective antagonists of N‐methyl‐d‐aspartate (NMDA) and α‐amino‐3‐hydroxy‐5‐methyl‐4‐isoxazolepropionic acid (AMPA)/kainate receptors, produced widespread neuronal death in neonatal rat brain and cortical cell cultures. MK‐801/CNQX‐induced neuronal apoptosis was prevented by zVAD‐fmk, a broad inhibitor of caspases, but insensitive to inhibitors of calpain or cathepsin D. Activation of caspase‐3 was observed within 6–12 h and sustained over 36 h after exposure to MK‐801/CNQX, which cleaved PHF‐1 tau, the substrate for caspase‐3. Activation of caspase‐3 was blocked by high K+ and mimicked by BAPTA‐AM, a selective Ca2+ chelator. Reducing extracellular Ca2+, but not Na+, activated caspase‐3, suggesting an essential role of Ca2+ deficiency in MK‐801/CNQX‐induced activation of caspases. Cortical neurons treated with MK‐801/CNQX triggered activation of caspase‐9, release of cytochrome c from mitochondria, and translocation of Bax into mitochondria. The present study suggests that blockade of ionotropic glutamate receptors causes caspase‐3‐mediated neuronal apoptosis due to Ca2+ deficiency that is coupled to the sequential mitochondrial death pathway.
Biocatalytic synthesis of disaccharide high‐intensity sweeterner sucralose via a tetrachlororaffinose intermediate

A second high‐yielding bioorganic synthesis of the highintensity sweetener sucralose (4,1′,6′‐trichloro‐4,1′,6′‐trideoxygalactosucrose) is described. This procedure involves the chemical chlorination of raffinose to form a novel tetrachloroaffinose intermediate (6,4′,1″,6″‐tetrachloro‐6,4′,1″,6″‐tetradeoxygalactoraffinose; TCR) followed by the enzymic hydrolysis of the α‐1‐6 glycosidic bond of TCR to give sucralose and 6‐chlorogalactose. Commercial enzyme preparations and microorganisms were screened to select α‐galactosidases which have high catalytic activity on this compound. The most active enzyme was produced by a strain of Mortierella vinacea and had a maximum rate of 118 μmol sucralose/g dry weight cells/h, which was approximately 5% of the activity toward raffinose, and a Km of 5.8 mM toward TCR. The enzyme could be used in the form of mycelial pellets in a continuous packed bed column reactor. The reaction was also studied in a water‐immiscible hydrophilic organic solvent, such as methyl isobutyl ketone, to overcome the poor aqueous solubility of TCR and to increase volumetric productivity. Synthesis of raffinose was achieved from saturated aqueous solutions of galactose and sucrose using a selected α‐galactosidase from Aspergillus niger. When raffinose is used as a starting material for sucralose synthesis, this route has fewer steps than either the preceeding method using glucose‐6‐acetate as an intermediate or the complete chemical synthesis from sucrose. The relative merits of the two bioorganic routes and the utility of such methods to synthesize new sugars are discussed.
Involvement and Persuasion: Tradition Versus Integration

In a recent meta-analysis, Johnson and Eagly (1989) questioned our conceptualization of and evidence for the effects of involvement on persuasion (Petty & Cacioppo, 1979, 1986). In particular, they concluded that (a) what we had termed issue involvement represented two distinct types of involvement (outcome- versus value-relevant), (b) each type of involvement had unique effects on persuasion, and (c) outcome involvement effects may be obtained only by 1 group of researchers. We argue that although 2 distinct research traditions of involvement have emerged, our original position that the 2 categories of involvement induce similar processes in persuasion situations remains viable. Evidence from Johnson and Eagly's meta-anatysis shows that as both types of involvement increase, argument quality becomes a more important determinant of attitudes. The greater message rejection found with involvement in value as compared with outcome studies can be explained in terms of confounding factors. Finally, we note that the outcome involvement effects that we reported initially have been replicated by other investigators, including Johnson and Eagly. In a recent article in this journal, Johnson and Eagly (1989) reported a meta-analysis of the accumulated research on involvement and persuasion in which they concluded that it was useful to distinguish between value- and outcome-relevant involvement.l In addition, they suggested that although effects for the first type of involvement were robust, effects for the latter type of involvement may be obtained only by one group of researchers. In this article, we question both of these conclusions and provide a brief critique of their meta-analysis.
High-sensitivity measurements of the cosmic microwave background power spectrum with the extended Very Small Array

We present deep Ka-band (ν ≈ 33 GHz) observations of the cosmic microwave background (CMB) made with the extended Very Small Array (VSA). This configuration produces a naturally weighted synthesized FWHM beamwidth of ∼11 arcmin, which covers anrange of 300 to 1500. On these scales, foreground extragalactic sources can be a major source of contamination to the CMB anisotropy. This problem has been alleviated by identifying sources at 15 GHz with the Ryle Telescope and then monitoring these sources at 33 GHz using a single-baseline interferometer collocated with the VSA. Sources with flux densities20 mJy at 33 GHz are subtracted from the data. In addition, we calculate a statistical correction for the small residual contribution from weaker sources that are below the detection limit of the survey. The CMB power spectrum corrected for Galactic foregrounds and extragalactic point sources is presented. A totalrange of 150-1500 is achieved by combining the complete extended array data with earlier VSA data in a compact configuration. Our resolution of �� ≈ 60 allows the first three acoustic peaks to be clearly delineated. This is achieved by using mosaiced observations in seven regions covering a total area of 82 deg 2 . There is good agreement with the Wilkinson Microwave Anisotropy Probe (WMAP) data up to � = 700 where WMAP data run out of resolution. For highervalues out to � = 1500, the agreement in power spectrum amplitudes with other experiments is also very good despite differences in frequency and observing technique.
The Limits of Post Oxidation Annealing in NO

We report on the benefits and the shortcomings of the NO annealing process following observations made on capacitors and transistors with various nitrogen densities at the SiO2/SiC interface. While NO annealing leads to a progressively lower interface state density and higher inversion mobility, consistent with Coulomb-limited transport, MOSFET properties are still limited by the relatively poor interface quality. Moreover, NO induces a large amount of hole traps in the oxide. We establish that these properties are not related to the oxidation rate and we discuss them in terms of the nitrogen content.
Holotranscobalamin as an indicator of dietary vitamin B12 deficiency.

We report that serum holotranscobalamin (holoTC) compares favorably with serum vitamin B12 for identifying vegans likely to have vitamin B12 deficiency as judged by measurements of the metabolites methylmalonic acid (MMA) and homocysteine (tHcy). We also report that measurement of holoTC may possibly replace combined testing with serum vitamin B12 (B12), MMA, and tHcy in this population. Recently, two new markers for vitamin B12 deficiency, holoTC (TC saturated with vitamin B12) and the related TC saturation (the fraction of total TC present as holoTC), have been introduced (1)(2)(3). Approximately 30% of circulating B12 is attached to TC, whereas the major part of B12 is attached to another protein, haptocorrin. Because only B12 attached to TC (holoTC) is able to enter all the cells of the body, holoTC may be a more useful marker than total B12 in serum. We compared holoTC with the tests currently used for diagnosis of vitamin B12 deficiency, i.e., B12, MMA, and tHcy, in vegan men, whose diets are devoid of food of animal origin (and thus low in vitamin B12) and who thus are susceptible to developing B12 deficiency. The vegan men were recruited from two sources: 100 (of a subset of 233) vegan men enrolled in the Oxford cohort of the EPIC study (European Prospective Investigation into Cancer and Nutrition) between 1993 and 1997 for whom measurements of B12 had been performed at enrollment [mean (range) B12 at enrollment, 170 (67–397) ng/L; mean (range) age at recruitment, 49 (27–78) years]; and 72 men (of a total of 96 respondents) who were members of the London Vegan Society between 2001 and 2002 [mean (range) age, 38 (18–70) years]. The vegan men had consumed no food of animal origin for a mean (range) of 24 …
Caged compounds and striated muscle contraction.

This review summarizes recent work using caged compounds for the study of muscular contraction. We focus on what flash photolysis has taught us about the reaction mechanism and regulation of the actomyosin system of the intact fiber lattice, both during force generation and shortening. An excellent series of complementary reviews is available to the interested reader. The reviews of Lester & Nerbonne (71), Gurney & Lester (50), and McCray & Trentham (75) describe the theory, synthesis, photolysis, and use of caged compounds in detail. For those interested in the crossbridge mechanism, the reviews of Hibberd & Trentham (55) and Goldman (42) include many of the caged experiments, and other topics in muscle contraction are covered by the reviews of Cooke (18), Brenner (14), Homsher (58), and Thomas (94). The development of caged ATP by Kaplan et al (66) led to its first use in the study of muscle contraction in 1 982 (43). Progress from 1 982 to 1 986 was relatively slow for two reasons. First, the synthesis and purification of caged compounds was slow (several weeks) and the yield was low (ca. 25%). Second, the production of a rapid and uniform photolysis of the caged compounds required the use of an expensive (ca. $40,000) laser. In the past 3-4 years, however, two developments have occurred that should make these techniques available to most experimenters. First was the development of a
Preclinical and Clinical Studies

Contemporary drug pipelines are increasingly populated with difficult-to-formulate drug substances. Amorphous solid dispersions can increase drug dissolution rate by reducing the effective drug particle size through its dispersion in the matrix. Based on the theorized way of working of amorphous solid dispersions, one of the most important design elements is their ability to dissolve and supersaturate. This is initially assessed in vitro through the use of dissolution protocols especially set up for that purpose. A number of in vivo assessments of the potential utility of amorphous solid dispersions have been completed using various animal models. Clinical assessments to investigate itraconazole supersaturation (indirectly) have also been completed. Itraconazole is a widely studied compound in this context with numerous in vitro, in vivo, and clinical evaluations completed. Useful preclinical and clinical models for assessing solid dispersion fitness will contribute to the drug development process. Keywords: amorphous solid dispersions; animal models; clinical models; drug dissolution rate; itraconazole supersaturation
Prevalence of Measles, Rubella, Mumps, and Varicella Antibodies Among Healthcare Workers in Japan

Abstract Objectives: To evaluate the immune status of healthcare workers (HCWs) against measles, rubella, mumps, and varicella in Japan, and to promote an adequate vaccination program among HCWs. Setting: University of Tokyo Hospital. Participants: Eight hundred seventy-seven HCWs. Design: Serologic screening for measles, rubella, mumps, and varicella was performed on HCWs. Antibodies against measles, rubella, and mumps were detected using hemagglutination inhibition (HI) assay ($4.20 per test). If serum was negative by HI assay, enzyme-linked immunosorbent assay (EIA) was performed ($12.60 per test). Anti-varicella antibodies were detected by EIA only. Results: Among tested HCWs, 98.5%, 90.4%, 85.8%, and 97.2% had immunity to measles, rubella, mumps, and varicella, respectively. All those born before 1970 were seropositive for measles. However, individuals susceptible to rubella, mumps, and varicella were present in all age groups. The sensitivities and negative predictive values of HI assay compared with EIA were 86.6% and 11.3% for measles, 99.1% and 92.2% for rubella, and 47.8% and 24.1% for mumps, respectively. For measles and mumps, prevaccination screening by HI assay in combination with EIA led to significant savings compared with EIA only. In contrast, it was estimated that prevaccination screening using only HI assay would be more economical for rubella. Conclusions: Aggressive screening and vaccination of susceptible HCWs was essential regardless of age. Prevaccination serologic screening using a combination of HI assay and EIA was more economical for measles and mumps.
Session guarantees for weakly consistent replicated data

Four per-session guarantees are proposed to aid users and applications of weakly consistent replicated data: "read your writes", "monotonic reads", "writes follow reads", and "monotonic writes". The intent is to present individual applications with a view of the database that is consistent with their own actions, even if they read and write from various, potentially inconsistent servers. The guarantees can be layered on existing systems that employ a read-any/write-any replication scheme while retaining the principal benefits of such a scheme, namely high availability, simplicity, scalability, and support for disconnected operation. These session guarantees were developed in the context of the Bayou project at Xerox PARC in which we are designing and building a replicated storage system to support the needs of mobile computing users who may be only intermittently connected. <<ETX>>
Effect of Bacterial Quality and Density on Growth and Whole Body Stoichiometry of Culex quinquefasciatus and Culex tarsalis (Diptera: Culicidae)

Abstract Growth characteristics and whole body carbon (C), nitrogen (N), and phosphorus (P) concentrations were examined for the southern house mosquito, Culex quinquefasciatus Say, and Culex tarsalis Coquillett, reared on chemostat-grown bacteria, Pseudomonas aeruginosa. Whole body percentage of C, N, and P of Cx. quinquefasciatus larvae did not differ significantly across three bacterial concentrations (1, 5, and 10 mg of dry mass/liter) and two bacterial quality treatments (culture medium containing 5 μM P versus 50 μM P); whereas the P content of Cx. tarsalis larvae differed between the bacterial quality treatments. Low concentrations of high or low P bacteria decreased mass-specific growth rate (MGR), whereas intermediate and high bacterial concentrations affected MGR asymmetrically, depending on species. High concentrations of P-rich bacteria enhanced the growth rates of Cx. quinquefasciatus larvae relative to growth on the low P diets. Cx. tarsalis larvae reared on low P bacteria grew ≈3- to 4 times faster than larvae reared on high P bacteria. The observed asymmetric response in MGR may have been because of differential tolerance in larvae to putative toxins present in P. aeruginosa and may provide one reason why Cx. tarsalis larvae are not found in hypereutrophic aquatic habitats.
Integration-Free Reprogramming of Lamina Propria Progenitor Cells

Producing induced pluripotent stem cells (iPSCs) from human tissue for use in personalized medicine strategies or therapeutic testing is at the forefront of medicine. Therefore, identifying a source of cells to reprogram that is easily accessible via a simple noninvasive procedure is of great clinical importance. Reprogramming these cells to iPSCs through nonintegrating methods for genetic manipulation is paramount for regenerative purposes. Here, we demonstrate reprogramming of oral mucosal lamina propria progenitor cells from patients undergoing routine dental treatment. Reprogramming was performed utilizing nonintegrating plasmids containing all 6 pluripotency genes (OCT4, SOX2, KLF4, NANOG, LIN28, and cMYC). Resulting iPSCs lacked genetic integration of the vector genes and had the ability to differentiate down mesoderm, ectoderm, and endoderm lineages, demonstrating pluripotency. In conclusion, oral mucosal lamina propria progenitor cells represent a source of cells that can be obtained with minimal invasion, as they can be taken concurrently with routine treatments. The resulting integration-free iPSCs therefore have great potential for use in personalized medicine strategies.
Cytogenetic study on antlions (Neuroptera, Myrmeleontidae): first data on telomere structure and rDNA location

Abstract Myrmeleontidae, commonly known as “antlions”, are the most diverse family of the insect order Neuroptera, with over 1700 described species (in 191 genera) of which 37 species (in 21 genera) have so far been studied in respect to standard karyotypes. In the present paper we provide first data on the occurrence of the “insect-type” telomeric repeat (TTAGG)n and location of 18S rDNA clusters in the antlion karyotypes studied using fluorescence in situ hybridization (FISH). We show that males of Palpares libelluloides (Linnaeus, 1764) (Palparinae), Acanthaclisis occitanica (Villers, 1789) (Acanthaclisinae) and Distoleon tetragrammicus (Fabricius, 1798) (Nemoleontinae) have rDNA clusters on a large bivalent, two last species having an additional rDNA cluster on one of the sex chromosomes, most probably the X. (TTAGG)n - containing telomeres are clearly characteristic of Palpares libelluloides and Acanthaclisis occitanica; the presence of this telomeric motif in Distoleon tetragrammicus is questionable. In addition, we detected the presence of the (TTAGG)n telomeric repeat in Libelloides macaronius (Scopoli, 1763) from the family Ascalaphidae (owlflies), a sister group to the Myrmeleontidae. We presume that the “insect” motif (TTAGG)n was present in a common ancestor of the families Ascalaphidae and Myrmeleontidae within the neuropteran suborder Myrmeleontiformia.