Miracle-dz/UniFAR-FTUs huggingface dataset:
Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling

Objective: To report the frequency of single and multiple gene mutations in an Australian cohort of patients with hypertrophic cardiomyopathy (HCM). Methods: Genetic screening of seven HCM genes (β-MHC, MyBP-C, cTnT, cTnI, ACTC, MYL2, and MYL3) was undertaken in 80 unrelated probands. Screening was by denaturing high performance liquid chromatography and direct DNA sequencing. Clinical data were collected on all patients and on genotyped family members. Results: 26 mutations were identified in 23 families (29%). Nineteen probands (24%) had single mutations (11 β-MHC, 4 MyBP-C, 3 cTnI, 1 cTnT). Multiple gene mutations were identified in four probands (5%): one had a double mutation and the others had compound mutations. Six of 14 affected individuals from multiple mutation families (43%) experienced a sudden cardiac death event, compared with 10 of 55 affected members (18%) from single mutation families (p = 0.05). There was an increase in septal wall thickness in patients with compound mutations (mean (SD): 30.7 (3.1) v 24.4 (7.4) mm; p<0.05). Conclusions: Multiple gene mutations occurring in HCM families may result in a more severe clinical phenotype because of a “double dose” effect. This highlights the importance of screening the entire panel of HCM genes even after a single mutation has been identified.
Plasma Levels of Asymmetrical Dimethyl-l-Arginine in Patients with Congenital Heart Disease and Pulmonary Hypertension

Asymmetrical dimethyl-l-arginine (ADMA) is an endogenous inhibitor of nitric oxide synthase. We hypothesized that plasma levels of ADMA could be increased in patients with congenital heart disease and pulmonary hypertension. Cardiac catheterization was performed in 20 children and young adults with congenital heart disease with a median age of 10 years (range, 4 months to 33 years). The patients were assigned to group I (high flow, low pressure; n = 14) when Qp/Qs was 1.5 or greater and the mean PAP was less than 25 mm Hg or to group II (high pressure, high resistance; n = 6) when the mean PAP was greater than 25 mm Hg and Rp/Rs was greater than 0.3. Blood samples were taken from pulmonary vein or left ventricle. ADMA was measured by high-performance liquid chromatography. In addition, levels of ADMA were measured in peripheral venous blood obtained from eight control patients. Levels of ADMA in control patients (median, 0.21 &mgr;M/l; range, 0.08–0.27 &mgr;M/l) did not differ from levels obtained in group I (median, 0.30 &mgr;M/l; range, 0.06–0.49) &mgr;M/l). Patients in group II showed increased plasma levels of ADMA (median, 0.55; range, 0.25–0.79) (p < 0.01). Inhibition of nitric oxide synthase by increased levels of ADMA might contribute to pulmonary hypertension in patients with congenital heart disease.
Association of anemia correction with health related quality of life in patients not on dialysis*

ABSTRACT Objective: This was an open-label study to asses the association of changes in hemoglobin with changes in health related quality of life (HRQOL) in patients treated with darbepoetin alfa. Methods: Originally, 81 chronic kidney disease (CKD) patients not on dialysis and naïve to erythropoiesis stimulating agents (ESA) were randomly assigned into two open-label groups (3 : 1). As a majority of control group patients opted out of control status, this study reports on the single arm study analysis that was performed on the 48 patients who received the drug through week 16. Sixty-two patients received once-weekly darbepoetin alfa in addition to conservative management for CKD. Instruments that measured general (SF‐36, FACT-anemia, FACT-fatigue, ADL and IADL) and disease specific (KDQOL) HRQOL domains were administered at baseline and after 8, 16, and 24 weeks. Results: Compared to baseline values, mean HRQOL subscales were significantly improved in the treatment group at 16 weeks ( p < 0.05 for SF‐36 physical function; p < 0.001 for SF‐36 vitality, FACT anemia and FACT fatigue scales). At week 16, the SF‐36 mean increase for 48 treatment patients in the Vitality Subscale Score was 14.9 (SD 3.2) and the mean increase in the KDQOL Burden of Kidney Disease Subscale was 5.5 (SD 3.3). Multivariate regression analysis demonstrated a statistically significant association ( p < 0.05) between hemoglobin levels and higher HRQOL scores on several physical function, energy and fatigue scales. Conclusion: Improvements in hemoglobin in CKD patients not on dialysis were associated with statistically significant ( p < 0.05), clinically meaningful (> 5 points) HRQOL improvements on scales measuring physical activity, vitality and fatigue. Our study did not show an association between increased hemoglobin levels and other aspects of HRQOL, such as those relating to emotional status, sexual activity or cognition. The interpretation of our results is limited by the lack of a control arm to assess whether conservative therapy for CKD, in the absence of ESA administration, would have a comparable effect on patients’ HRQOL scores. Further research needs to examine whether other aspects of HRQOL improve with anemia treatment, in the same way as those aspects of HRQOL more closely related to physical activity and fatigue.
Gastropod evidence against the Early Triassic Lilliput effect

Size reduction in the aftermath of the Permian-Triassic mass extinction event has repeatedly been described for various marine organisms, including gastropods (the Lilliput effect). A Smithian gastropod assemblage from Utah, USA, reveals numerous large-sized specimens of different genera as high as 70 mm, the largest ever reported from the Early Triassic. Other gastropods reported from Serbia and Italy are also as large as 35 mm. Size frequency distributions of the studied assemblages indicate that they were not unusually small when compared with later Mesozoic and modern faunas. The occurrence of large-sized gastropods less than 2 Ma after the Permian-Triassic mass extinction refutes the Lilliput hypothesis in this clade, at least for the last ~75% of the Early Triassic.
Study on the DNA repair gene XRCC1 and XRCC3 polymorphism in prediction and prognosis of hepatocellular carcinoma risk.

BACKGROUND/AIMS We conducted a case-control study in China to clarify the association between XRCC1-Arg-399Gin polymorphism and HCC risk. METHODOLOGY A total of 150 cases and 158 controls were selected from May 2008 to May 2010. XRCC1-Arg399Gin and XRCC3-Thr241Met polymorphisms were based upon duplex polymerase-chain-reaction with the confronting-two-pair primer (PCR-CTPP) method. All analysis was performed by using the STATA statistical package. RESULTS A significant increased risk of HCC was associated with XRCC1 399Arg/Gin, and a heavy risk of HCC was also found in individuals with XRCC3 241Met/Met genotypes. A significant association was found between positive HBsAg and Arg/Gin. XRCC3 Thr/Met genotypes had a significant positive association with HBsAg (+) and a heavy risk of HCC was found in HBsAg (+) individuals with XRCC3 Met/Met genotype. Individuals carrying XRCC1 Gin/Gin genotypes showed significantly lower median survival than XRCC1 Arg/ Arg genotypes and significant hazard ratio (HR=l.38, 95% CI=l.04-1.84) was found. Meanwhile, we found a moderate HR for XRCC3 Thr/Met (HR=l.96, 95% CI=l.23-3.15) and a heavy HR for XRCC3 Met/Met (HR=2.98, 95% CI=1.77-7.54). CONCLUSIONS In conclusion, we observed that XRCC1-Arg399Gln and XRCC3-Thr241Met polymorphism is associated with susceptibility to HCC and XRCC1 Gin allele and XRCC3 Met allele genotype showed significant poor prognosis of HCC.
Human Strength : Terminology , Measurement , and Interpretation of Data

Application of strength data to human engineering problems Is often hampered by ambiguities of both terminology and data. This paper attempts to point out some of the problems. After defining "strength" and carifying related terms, mechanical. physiological, and statistical implications of strength testing are discussed. It becomes obvious that strength data are fully relevant to human engineering problems only if the operator must exert maximal static muscle force; If submaximal forces are required, the applicability of strength data is very limited. Research is needed to establish relations between human static force capacity and the abilities to perform maximal or submaximal dynamic wor*. At present there is little evidence that static force data accurately predict dynamic performance.
Analysis of transcriptomes of three orb‐web spider species reveals gene profiles involved in silk and toxin

As an ancient arthropod with a history of 390 million years, spiders evolved numerous morphological forms resulting from adaptation to different environments. The venom and silk of spiders, which have promising commercial applications in agriculture, medicine and engineering fields, are of special interests to researchers. However, little is known about their genomic components, which hinders not only understanding spider biology but also utilizing their valuable genes. Here we report on deep sequenced and de novo assembled transcriptomes of three orb‐web spider species, Gasteracantha arcuata, Nasoonaria sinensis and Gasteracantha hasselti which are distributed in tropical forests of south China. With Illumina paired‐end RNA‐seq technology, 54 871, 101 855 and 75 455 unigenes for the three spider species were obtained, respectively, among which 9 300, 10 001 and 10 494 unique genes are annotated, respectively. From these annotated unigenes, we comprehensively analyzed silk and toxin gene components and structures for the three spider species. Our study provides valuable transcriptome data for three spider species which previously lacked any genetic/genomic data. The results have laid the first fundamental genomic basis for exploiting gene resources from these spiders.
Variation in Vegetation Structure and Composition across Urban Green Space Types

The ecological sustainability and function of urban landscapes is strongly influenced by the composition and structure of the local plant community. Taxonomic composition generally refers to the identity of the species comprising the community, while we define structure as the presence of multiple canopy layers, as well as stems of varying diameter and age. These aspects of urban vegetation significantly influence the ecology of cities, yet they are generally poorly quantified across the range of natural and constructed plant communities present in urban landscapes. We quantified vegetation composition and structure to i) simultaneously assess their variation across four green spaces types (golf courses, public parks, residential neighbourhoods and patches of remnant vegetation) in Melbourne, Australia, and ii) investigate the relationship between vegetation composition and structure within these green spaces. The four green space types supported distinctly different plant communities. Vegetation composition in the residential neighborhoods differed significantly from the others (p<0.05), largely due to the increased richness of shrubs and cultivated plants, and the reduced presence of large trees. Residential neighborhoods had the highest plant species richness, although a large proportion of these species occurred infrequently. The structural complexity of understorey vegetation (calculated as % volume occupied) below 0.5 m was highest in remnant patches followed by golf courses, public parks and residential neighborhoods. The structural complexity of understorey vegetation in remnant vegetation patches was very similar to that of golf courses even though some of the latter were dominated by exotic plant species. Variation in the composition and structure of urban vegetation might have great implications for the retention of faunal diversity within cities because different taxa have specific habitat requirements. Hence, further understanding of variations in the composition and structure of both natural and constructed plant communities in cities will greatly improve our ability to create urban landscapes that enhance both plant and animal biodiversity.
Explaining the covariance between attention-deficit hyperactivity disorder symptoms and depressive symptoms: the role of hedonic responsivity.

OBJECTIVE The aim of this study was to examine low hedonic responsivity, a facet of hedonic capacity, as a potential explanatory variable in the relationship between attention deficit/hyperactivity disorder (ADHD) symptoms and depressive symptoms. METHOD One hundred ninety-eight undergraduate students (mean age = 21.3, standard deviation = 4.6; 59.6% women) from a large, public university completed self-report measures for this cross-sectional study. RESULTS Results indicated that ADHD symptoms were significantly associated with depressive symptoms, and that low hedonic responsivity partially accounted for this association. This effect was statistically significant for total ADHD symptoms and inattentive symptoms, but not for hyperactive-impulsive symptoms. CONCLUSIONS Findings are consistent with the possibility that impaired hedonic responsiveness may be a common endophenotype for depression and the inattentive symptoms of ADHD. Implications for future research and clinical work are discussed.
Prevalence rates and correlates of psychiatric disorders among preschool children.

OBJECTIVE To determine the prevalence and correlates of psychiatric disorders among preschool children in a primary care pediatric sample. METHOD In a two-stage design, 3,860 preschool children were screened; 510 received fuller evaluations. RESULTS For quantitative assessment of disorder (> or = 90th percentile), prevalence of behavior problems was 8.3%. "Probable" occurrence of an Axis I DSM-III-R disorder was 21.4% (9.1%, severe). Logistic regression analyses indicated significant demographic correlates for quantitative outcomes (older age, minority status, male sex, low socio-economic status, father absence, small family size) but not for DSM-III-R diagnoses. Maternal and family characteristics were generally not significant. Child correlates included activity level, timidity, persistence, and IQ. CONCLUSIONS Overall prevalence of disorder was consistent with rates for older children; correlates varied by approach used for classification.
Study on the performance enhancing effect of rare earth elements in growing and fattening pigs.

A feeding study was performed to investigate possible performance enhancing effects of rare earth elements (REE) in growing and fattening pigs, as well as their influence on the blood serum biochemical changes and the accumulation of REE in the organs of pigs treated with a REE diet for a longer time period. Fourteen crossbred piglets (Deutsche Landrasse x Piétrain) were allotted to two dietary treatments: a control group and the REE-treated group which was supplemented with 300 mg of an REE mixture per kg feed. The REE mixture contained mainly chlorides of lanthanum (La), cerium (Ce) and praseodymium (Pr). The whole feeding period consisted of a 2 months ad libitum feeding period M-I and a 1 month restricted feeding period M-II. It was found that in comparison with the control group, the REE group had a better daily body weight gain of 19% (p < 0.05) in the period M-I and 12% in the period M-II; the REE group also had a better feed conversion ratio of 11% in period M-I and 3% (p > 0.05) in the period M-II. The REE had no significant (p > 0.05) influence on blood serum thyroxine (T(4)), aspartate-amino-transferase (AST), alanine-amino-transferase (ALT), alkaline-phosphatase (AP), total cholesterol, triglyceride, total protein, albumin, glucose, Ca, P, Na, K and Cl. However, serum triiodothyronine (T(3)) in the REE group was significantly (p < 0.01) lower than that in the control group. The accumulation rate of La and Ce in the muscle, liver and kidneys was very low after feeding the REE diet for 3 months. The study indicates the possibility of using rare earth elements as safe and inexpensive alternative performance enhancers for pig production.
On the Optimal Vertex-Connectivity Augmentation

Abstract This paper considers the problem of finding a minimum-cardinality set of edges for a given k -connected graph whose addition makes it ( k + 1)-connected. We give sharp lower and upper bounds for this minimum, where the gap between them is at most k − 2. This result is a generalization of the solved cases k = 1, 2, where the exact min-max formula is known. We present a polynomial-time approximation algorithm which makes a k -connected graph ( k + 1)-connected by adding a new set of edges with size at most k − 2 over the optimum.
A Simple Solution to a Multiple Player Gambler's Ruin Problem

1. E. Alkan, Variations on Wolstenholme's theorem, this Monthly 101 (1994) 1001-1004. 2. L. E. Dickson, The History of the Theory of Numbers, vol. 1, Chelsea Publishing, New York, 1966. 3. J. W. L. Glaisher, Congruences relating to the sums and products of the first n numbers and to other sums of products, Q. J. Math. 31 (1900) 1-35. 4. -, On the residues of the sums of the inverse powers of numbers in arithmetical progression, Q. J. Math. 32(1900)271-288. 5. A. Granville, Arithmetic properties of binomial coefficients. I. Binomial coefficients modulo prime pow ers, in Organic Mathematics-Burnaby, BC 1995, CMS Conf. Proc, vol. 20, American Mathematical Society, Providence, RI, 1997, 253-276. 6. E. E. Kummer, ? ber die erg? nzungss? tze zu den allgemeinen reciprocit? tsgesetzen, /. Reine Angew. Math. 44(1852)93-146. 7. E. Lucas, Sur les congruences des nombres eul? riens et des coefficients diff? rentiels des fonctions trigonom? triques, suivant un module premier, Bull. Soc. Math. France 6 (1877-1878) 49-54. 8. R. J. Mclntosh, On the converse of Wolstenholme's theorem, Acta Arith. 71 (1995) 381-389. 9. R. J. Mclntosh and E. L. Roettger, A search for Fibonacci-Wieferich and Wolstenholme primes, Math. Comp. 76 (2007) 2087-2094. 10. D. Singmaster, Notes on binomial coefficients, J. London Math. Soc. 8 (1974) 545-560. 11. The William Lowell Putnam Mathematical Competition, Problem A-5, this Monthly 86 (1979) 171 173.
Enrichment and properties of an anaerobic mixed culture reductively dechlorinating 1,2,3-trichlorobenzene to 1,3-dichlorobenzene

Hexachlorobenzene (HCB), pentachlorobenzene (QCB), all three isomers of tetrachlorobenzene (TeCB), 1,2,3-trichlorobenzene (1,2,3-TCB), and 1,2,4-TCB were reductively dechlorinated by enrichment cultures in the presence of lactate, glucose, ethanol, or isopropanol as the electron donor. The enrichment cultures originated from percolation columns filled with Rhine River sediment in which dechlorination of TCBs and dichlorobenzenes (DCBs) occurred. A stable consortium obtained by transfer on lactate as the energy and carbon source in the presence of 1,2,3-TCB dechlorinated this isomer stoichiometrically to 1,3-DCB. Dechlorinating activity could only be maintained when an electron donor was added. Lactate, ethanol, and hydrogen appeared to be the best substrates. Optimal temperature and pH for dechlorination were 30 degrees C and 7.2, respectively. The specificity of the enrichment on lactate and 1,2,3-TCB was tested after approximately 60 transfers (after 2.5 years). HCB and QCB were stoichiometrically dechlorinated to 1,3,5-TCB and minor amounts of 1,2,4-TCB. 1,3,5-TCB was the sole product formed from 1,2,3,5-TeCB, while 1,2,3,4-TeCB and 1,2,4,5-TeCB were converted to 1,2,4-TCB. 1,2,4-TCB, 1,3,5-TCB, and the three isomers of DCB were not dechlorinated during 4 weeks of incubation. For further enrichment of the 1,2,3-TCB-dechlorinating bacteria, a two-liquid-phase (hexadecane-water) system was used with hydrogen as the electron donor and 1,2,3-TCB or CO2 as the electron acceptor. Methanogens and acetogens were the major substrate-competing (H2-CO2) microorganisms in the two-liquid-phase system. Inhibition of methanogenesis by 2-bromoethanesulfonic acid did not influence dechlorination, and acetogens which were isolated from the enrichment culture did not have dechlorinating activity. (ABSTRACT TRUNCATED AT 250 WORDS)
Cross-section measurements for electron-impact ionization of atoms.

Absolute electron-impact cross sections have been measured from 0 to 200 eV for single ionization of 16 atoms (Mg, Fe, Cu, Ag, Al, Si, Ge, Sn, Pb, P, As, Sb, Bi, S, Se, and Te) with an estimated accuracy of {plus minus}10%. Combined with our recent measurements of He, Ne, Ar, Kr, Xe, F, Cl, Br, I, Ga, and In (Wetzel {ital et} {ital al}., Phys. Rev. A 35, 559 (1987); Hayes {ital et} {ital al}. , {ital ibid}. 35, 578 (1987); Shul, Wetzel, and Freund, {ital ibid}. 39, 5588 (1989)), a set of 27 atomic single-ionization cross sections has now been measured with the same apparatus. In addition, cross sections are reported for double ionization of ten atoms and triple ionization of eight atoms. The measurements are made by crossing an electron beam with a 3-keV beam of neutral atoms, prepared by charge-transfer neutralization of a mass-selected ion beam. The critical measurement of absolute neutral beam flux is made with a calibrated pyroelectric crystal. The magnitudes of the single-ionization-peak cross sections decrease monotonically across rows of the periodic table from group IIIA (Al,Ga,In) to group VIIIA (Ar,Kr,Xe), varying much more than predicted by various empirical formulas and classical and quantum-mechanicalmore » theories. « less
The cyclic changes of epithelial cords in the dog ovary

Pfliiger (1863) was the first to give a detailed description of the follicle-containing cords in the adult dog ovary. His immediate successors, however, used the term “Pfliiger tubes” indiscriminately to apply to all cords within the ovary of foetal, young, or adult mammalian ovaries. It was established by the end of the century, that the cords which give rise to egg and follicle cells have their origin from the germinal epithelium and that the tubes of the hilus are derived from the mesonephros. Janosik (1885), Mihhlkovics (1885), Coert (1898) had shown that medullary cords are proliferated by the germinal epithelium in the indifferent gonad, become separated from the epithelium and grow into the ovary. A second proliferation of cords was found to occur during late embryonic or early post-natal life. Winiwarter ( ’ O l ) , B. hl. Allen ( ’04), Sainmont ( ’06), TT’iniwarter and Sainmont ( ’09) confirmed these observations. The latter investigators proposed to distinguish between the Pfluger tubes (cortical cords and sex cords) of the second proliferation and subsequent invaginations of epithelial cords as primary and secondary epithelial cords. Although most recent investigators have restricted “medullary cords” and “Pfluger tubes” to the epithelial invaginations of the indifferent gonad and late embryonic or early post-natal periods, respectively, the terms “ sex cords,” “Pfluger tubes,” “medullary cords,” and “epithelial cords” have continued to be used f o r all post-natal invaginations. The present investigation is concerned with the proliferations of the epithelium that are observed in the adult dog ovary. Since no young animals have been examined, no evidence can be given to substantiate or refute the conclusions of Swezy and Evans (’29) and Jonckheere ( ’30) that the proliferations of the germinal epithelium are continuous from a short time after birth to old age. The term “epithelial cords” is therefore used to designate the cord-like rows of cells either connected