Miracle-dz/UniFAR-FTUs huggingface dataset:
Molecular Basis of Autosomal Dominant Polycystic Kidney Disease

Autosomal dominant polycystic kidney disease (ADPKD) is a serious, life-threatening genetic disease in which extensive epithelial-lined cysts develop in the kidneys and, to a lesser extent, in other organs such as liver, pancreas, and ovaries. In a majority of cases (80-85%), the gene involved is PKD1, which is located on chromosome 16 (16q13.3) and encodes polycystin-1, a large receptor-like integral membrane protein that contains several extracellular motifs indicative of cell-cell and cell-matrix interaction. In the remaining (10-15%) cases, the disease is milder and is caused by mutational changes in another gene (PKD2), which is located at chromosome 4 (4q21-23) and encodes polcystin-2, a transmembrane protein, which acts as a nonspecific calcium-permeable channel. Both polycystins function together in a nonredundant fashion, through a common pathway, and produce cellular responses that regulate proliferation, migration, differentiation, and kidney morphogenesis. Through combined function of polycystins, normal tubular cells are maintained in a state of terminal differentiation, and their proliferation is strictly controlled. Loss of function of either protein due to gene mutations results in the tubular cells reverting to a less differentiated state, which is more prone to proliferation. Patients with ADPKD carry a germ-line mutation in PKD1 or PKD2. A second somatic mutation in some of the tubular cells results in loss of both normal alleles, leading to loss of polycystin function. The affected cells lose the normal terminally differentiated state, revert to less differentiated phenotype, and undergo proliferation, which leads to cyst formation. As the cysts enlarge over many decades, the normal renal parenchyma is progressively destroyed, leading to renal failure. Recently, the crucial role of primary cilia in modulating proliferation, migration, and differentiation of tubular epithelium has been recognized. Most of the tubular cells have one or two primary cilia projecting from the apical surface into the luminal space. The cilia act as mechanoreceptors as they bend with the urinary flow within the tubules. Both polycystins are strategically located within the cilia and act as important mediators of ciliary mechanosensation. Loss of this important function due to mutational changes in PKD1 or PKD2 leads to loss of normal control over cellular proliferation, resulting in cyst formation. Several other ciliary proteins have recently been found to contribute directly to a wide spectrum of human kidney diseases with cystic phenotype, thus underscoring the pivotal role the primary cilia play in maintaining the normal structure and function of the tubular cells and probably other cells in the body.
Co-conception diagnostic et ordonnancement des mesures dans un système contrôlé en réseau. (Fault diagnosis and sensor scheduling co-desing of networked control system)

Les travaux developpes dans cette these portent sur la "co-conception diagnostic / ordonnancement des mesures dans un systeme controle en reseau" qui est un sujet multidisciplinaire necessitant des competences en theorie du controle et en theorie des reseaux. La these a pour but de developper, dans le contexte des systemes controles en reseau, une approche de co-conception qui integre de facon coordonnee les caracteristiques qui expriment la performance du diagnostic des defauts et les parametres de l'ordonnancement temps-reel des messages. L'interet de cette approche coordonnee reside essentiellement dans la minimisation des ressources necessaires pour atteindre la performance du diagnostic requise, minimisation qui prend tout son sens dans le contexte des systemes embarques. Nous nous sommes interesses plus particulierement a l'etude des problemes lies a l'elaboration d'algorithmes de diagnostic efficaces et adaptes aux caracteristiques de l'application de facon tout en prenant en compte differents types de contraintes liees au reseau. En conjonction avec ces algorithmes, deux ensembles de techniques d'ordonnancement des mesures ont ete developpes : i) ordonnancement hors ligne, ii) ordonnancement evenementiel en ligne. Pour l'ordonnancement hors ligne, les sequences de communication sont concues en amont, prealablement a la mise en oeuvre de l'algorithme de diagnostic (implementation). D'autre part, nous proposons aussi des techniques d'ordonnancement en ligne basees sur l'echantillonnage evenementiel developpe au cours de la derniere decennie. Au contraire de la plupart des recherches en automatique classique, considerant que l'echantillonnage des signaux continus est realise d'une maniere periodique, les mesures dans cette approche sont transmises si et seulement si la condition de transmission (evenement) est verifiee. Ceci permet d'economiser les ressources fournies par le reseau tout en gardant une performance du diagnostic acceptable. L'objectif de ces algorithmes est de minimiser le nombre de transmission d'informations ce qui signifie moins de consommation d'energie.
Non-host cells in the pathogenesis of autoimmune disease: a new paradigm?

Autoimmune diseases are thought of as disorders in which a body’s cells inexplicably attack its own tissues. Usually there is little evidence that anything is abnormal in the body tissues before the immunological attack begins. Drawing together observations from unrelated fields of medicine and science, microchimerism has been proposed as a new consideration in the pathogenesis of some autoimmune disorders.1 The term chimerism is used to indicate a body that contains cell populations derived from different individuals and microchimerism refers to low levels of non-host cells. The observations draw from pregnancy immunology, transplantation biology, prenatal diagnostics, and autoimmunity. The key observation that led to the proposal came from investigators working to establish sensitive techniques for prenatal diagnosis. As a result of the application of molecular techniques to prenatal diagnosis it is now known that fetal cells enter the mother’s blood early in the course of most pregnancies. In 1996 a report by Dr Diana Bianchi and colleagues cast a potentially new stage for the well recognised female predominance of autoimmunity disease. The investigators found that fetal cells also persist in the maternal circulation for decades after pregnancy completion.2 Long term persistence of fetal cells, when considered together with epidemiological observations of autoimmune disease in women and with observations in transplantation biology led me to propose the hypothesis that non-host cells are involved in the pathogenesis of some autoimmune diseases. The hypothesis was proposed in the question “Is some autoimmune disease auto-alloimmune or allo-autoimmune? ”1 The term “allo” refers to non-host cells from an individual of the same species. In addition to a strong female predominance of autoimmune disease the age specific incidence, for example of scleroderma (SSc) and primary biliary cirrhosis (PBC) in women peaks in middle age—that is after childbearing years.3 4 Interestingly, both of these …
Soil phosphorus: its measurement, and its uptake by plants

Phosphorus (P) is the most important nutrient element (after nitrogen) limiting agricultural production in most regions of the world. It is extremely chemically reactive, and more than 170 phosphate minerals have been identified. In all its natural forms, including organic forms, P is very stable or insoluble, and only a very small proportion exists in the soil solution at any one time. Plant-available P may be considered in either its quantitative or intensive dimension. The quantity of available P is time-specific and crop-specific, because it is the amount of P that will come into the soil solution and be taken up by the crop during its life cycle. The intensity of available P (availability) is most easily identified with its concentration in the soil solution. The soil property controlling the relationship between the solid phase P and its concentration in solution is known as the buffering capacity. The solid phase P involved in this relationship is only a small proportion of the total P, and is known as labile P. It is usually measured by isotopic exchange, but this exchangeable P component does not include the sparingly soluble compounds that also replenish the soil solution as its concentration is depleted by plant uptake. The buffering capacity is the ability of the soil solution to resist a change in its P concentration as P is removed by plant uptake or added in fertilisers or organic materials. Buffering capacity is synonymous with sorptivity, which is a preferable term in the context of the reactivity of P fertiliser with soil. It is usually measured from an adsorption isotherm. By fitting a suitable equation, such as the Langmuir, the total sorption capacity as well as the sorption strength can be determined. Both parameters are important in understanding P availability in soils. Buffering capacity has a major effect on the uptake of labile P because it is inversely related to the ease of desorption of solid phase P and its diffusion. Available P therefore is a direct function of the quantity of labile P and an inverse function of buffering capacity. This has been demonstrated in plant uptake studies. Similarly, the most effective methods of measuring available P (soil tests) are those which remove a proportion of labile P that is inversely related to buffer capacity. Soil tests which measure the concentration of P in solution actually measure availability rather than available P, and their efficacy on a range of soils will depend on the uniformity of the soils" buffer capacities. The most effective soil test usually consists of an anionic extractant. Acidic lactate or fluoride have been found most effective in New South Wales, on a wide range of soils, except calcareous soils which neutralise the acidic component (usually hydrochloric or acetic acid) of the extractant. Sodium bicarbonate (pH 8 · 5) has been found effective on calcareous soils and is widely used throughout the world. It has proved unreliable on NSW soils, and may need more thorough evaluation on non-calcareous soils in other parts of Australia.
RNA polymerase activity in bovine spermatozoa

Washed mature spermatozoa from bulls incorporate ribonucleoside triphosphates into RNA using an endogenous template. Maximum incorporation was observed at 31 degrees C in the presence of MgCl2, all four ribonucleoside triphosphates, beta-mercaptoethanol, and glycine sodium hydroxide buffer at pH 9.0. The amount of synthesis was linearly dependent upon the concentration of spermatozoa and continued for at least 4 h. Digestion studies revealed the RNA to be present in a protected (intracellular? ) location in the spermatozoa. The RNA synthesis was inhibited by ethidium bromide, rifampicin, acriflavine, actinomycin D, and caffeine, but not by alpha-amanitine or rifamycin SV. Fractionation of the spermatozoa by sonication and separation of the heads and tails by centrifugation through a discontinuous gradient revealed that more than half of the total RNA polymerase activity was associated with the tail fraction.
Axiomatic, Parameterized, Off-Shell Quantum Field Theory

Axiomatic quantum field theory (QFT) provides a rigorous mathematical foundation for QFT, and it is the basis for proving some important general results, such as the well-known spin-statistics theorem. Free-field QFT meets the axioms of axiomatic QFT, showing they are consistent. Nevertheless, even after more than 50 years, there is still no known non-trivial theory of quantum fields with interactions in four-dimensional Minkowski spacetime that meets the same axioms. This paper provides a similar axiomatic basis for parameterized QFT, in which an invariant, fifth path parameter is added to the usual four spacetime position arguments of quantum fields. Dynamic evolution is in terms of the path parameter rather than the frame-dependent time coordinate. Further, the states of the theory are allowed to be off shell. Particles are therefore fundamentally "virtual" during interaction but, in the appropriate non-interacting, large-time limit, they dynamically tend towards "physical", on-shell states. Unlike traditional QFT, it is possible to define a mathematically consistent interaction picture in parameterized QFT. This may be used to construct interacting fields that meet the same axioms as the corresponding free fields. One can then re-derive the Dyson series for scattering amplitudes, but without the mathematical inconsistency of traditional, perturbative QFT. The present work is limited to the case of scalar fields, and it does not address remaining issues of gauge symmetry and renormalization. Nevertheless, it still demonstrates that the parameterized formalism can provide a consistent foundation for the interpretation of QFT as used in practice and, perhaps, for better dealing with its further mathematical issues.
What really brings them back?: the impact of tangible quality on affect and intention for casual dining restaurant patrons.

Purpose – The purpose of this paper is to evaluate the usefulness of the TANGSERV (tangible quality) scale by examining the effect of tangible quality constructs on restaurant patrons' affect and behavioral intentions.Design/methodology/approach – A model was proposed based on the literature of tangible quality in service, which posits that tangible quality leads to affective quality and they both have positive impact on customer re‐patronage intentions. Subsequently, an empirical study in Turkey's casual restaurants was conducted to test the aforementioned model.Findings – The food and service construct and accessibility construct of tangible quality exhibited positive impact on the affect towards restaurants, which in turn influenced re‐patronage intention for restaurants. Affect was a strong mediator, facilitating the relationship between tangible quality and behavior.Practical implications – Restaurant operators should focus their efforts on ensuring an interesting variety of food and drink offerings .
Huntington's disease, critical illness insurance and life insurance

We describe briefly a model of Huntington's disease (HD), a highly penetrant, dominantly inherited, fatal neurological disorder. Although it is a single-gene disorder, mutations are variable in their effects, depending on the number of times that the CAG trinucleotide is repeated in a certain region of the HD gene. The model covers: (a) rates of onset, depending on CAG repeat length as well as age; (b) post-onset rates of mortality; and (c) the distribution of CAG repeat lengths in the population. Using these, we study the critical illness and life insurance markets. We calculate premiums based on genetic test results that disclose the CAG repeat length, or more simply on a family history of HD. These vary widely with age and policy term; some are exceptionally high, but in a large number of cases cover could be offered within normal underwriting limits. We then consider the possible costs of adverse selection, in terms of increased premiums, under various possible moratoria on the use of genetic information, including family history. These are uniformly very small, because of the rarity of HD, but do show that the costs would be much larger in relative terms if family history could not be used in underwriting. We point out some difficulties involved in applying a moratorium that recognises simply a dichotomy between ‘carriers’ and ‘non-carriers’ of any mutation in a gene when these mutations are, in fact, very variable in their effects. These complexities suggest that restrictions on the disclosure, rather than on the use, of genetic information, if it became established as a principle, could deprive insurers of information needed for risk management even if not used in underwriting.
Genome Sequence and Composition of a Tolyporphin-Producing Cyanobacterium-Microbial Community

ABSTRACT The cyanobacterial culture HT-58-2 was originally described as a strain of Tolypothrix nodosa with the ability to produce tolyporphins, which comprise a family of distinct tetrapyrrole macrocycles with reported efflux pump inhibition properties. Upon reviving the culture from what was thought to be a nonextant collection, studies of culture conditions, strain characterization, phylogeny, and genomics have been undertaken. Here, HT-58-2 was shown by 16S rRNA analysis to closely align with Brasilonema strains and not with Tolypothrix isolates. Light, fluorescence, and scanning electron microscopy revealed cyanobacterium filaments that are decorated with attached bacteria and associated with free bacteria. Metagenomic surveys of HT-58-2 cultures revealed a diversity of bacteria dominated by Erythrobacteraceae, 97% of which are Porphyrobacter species. A dimethyl sulfoxide washing procedure was found to yield enriched cyanobacterial DNA (presumably by removing community bacteria) and sequence data sufficient for genome assembly. The finished, closed HT-58-2Cyano genome consists of 7.85 Mbp (42.6% G+C) and contains 6,581 genes. All genes for biosynthesis of tetrapyrroles (e.g., heme, chlorophyll a, and phycocyanobilin) and almost all for cobalamin were identified dispersed throughout the chromosome. Among the 6,177 protein-encoding genes, coding sequences (CDSs) for all but two of the eight enzymes for conversion of glutamic acid to protoporphyrinogen IX also were found within one major gene cluster. The cluster also includes 10 putative genes (and one hypothetical gene) encoding proteins with domains for a glycosyltransferase, two cytochrome P450 enzymes, and a flavin adenine dinucleotide (FAD)-binding protein. The composition of the gene cluster suggests a possible role in tolyporphin biosynthesis. IMPORTANCE A worldwide search more than 25 years ago for cyanobacterial natural products with anticancer activity identified a culture (HT-58-2) from Micronesia that produces tolyporphins. Tolyporphins are tetrapyrroles, like chlorophylls, but have several profound structural differences that reside outside the bounds of known biosynthetic pathways. To begin probing the biosynthetic origin and biological function of tolyporphins, our research has focused on studying the cyanobacterial strain, about which almost nothing has been previously reported. We find that the HT-58-2 culture is composed of the cyanobacterium and a community of associated bacteria, complicating the question of which organisms make tolyporphins. Elucidation of the cyanobacterial genome revealed an intriguing gene cluster that contains tetrapyrrole biosynthesis genes and a collection of unknown genes, suggesting that the cluster may be responsible for tolyporphin production. Knowledge of the genome and the gene cluster sharply focuses research to identify related cyanobacterial producers of tolyporphins and delineate the tolyporphin biosynthetic pathway.
A Step, Stride and Heading Determination for the Pedestrian Navigation System

Recently, several simple and cost-effective pedestrian navigation systems (PNS) have been introduced. These systems utilized accelerometers and gyros in order to determine step, stride and heading. The performance of the PNS depends on not only the accuracy of the sensors but also the measurement processing methods. In most PNS, a vertical impact is measured to detect a step. A step is counted when the measured vertical impact is larger than the given threshold. The numbers of steps are miscounted sometimes since the vertical impacts are not correctly measured due to inclination of the foot. Because the stride is not constant and changes with speed, the step length parameter must be determined continuously during the walk in order to get the accurate travelled distance. Also, to get the accurate heading, it is required to overcome drawbacks of low grade gyro and magnetic compass. This paper proposes new step, stride and heading determination methods for the pedestrian navigation system: A new reliable step determination method based on pattern recognition is proposed from the analysis of the vertical and horizontal acceleration of the foot during one step of the walking. A simple and robust stride determination method is also obtained by analyzing the relationship between stride, step period and acceleration. Furthermore, a new integration method of gyroscope and magnetic compass gives a reliable heading. The walking test is preformed using the implemented system consists of a 1-axis accelerometer, a 1-axis gyroscope, a magnetic compass and 16-bit microprocessor. The results of walking test confirmed the proposed method.
Longitudinal Treatment of Cleft Lip and Palate in Developing Countries: Dentistry as Part of a Multidisciplinary Endeavor

Abstract Cleft lip and palate affects roughly 1 in 600 children and predisposes patients to a lifetime of functional and esthetic discrepancies. Disparities in access as well as quality of care exist worldwide, with many children in developing countries unable to receive treatment. In the late 20th century, humanitarian medical missions emerged as a means of delivering surgical expertise to patients in resource-limited settings. These early missions took on a patient-centered approach focused solely on cleft repair, with little emphasis on treating the dental abnormalities that arose after the initial surgery. However, modern cleft care is characterized by a multidisciplinary, team-based approach with significant dental involvement. Recent cleft lip and palate endeavors have shifted from a mission-based approach to a developmental approach facilitating growth of an independent care center. This strategy focuses on creating an institution with expanded access to dental services, thus facilitating the long-term treatment inherent in modern cleft care. One clinic in a developing country that has experienced successful transitioning from a mission site to an independent craniofacial clinic is Operation Smile's Cleft Comprehensive Care Clinic in Guwahati, India. This article will summarize the rationale and planning of the clinic, underscore the team-based approach required in longitudinal treatment of cleft lip and palate, and demonstrate how treatment methodology may differ in resource-limited settings by outlining the therapeutic considerations of each provider in the Guwahati Clinic.
Quotatives: Cross-linguistic and cross-disciplinairy perspectives

1. Authors' biographies 2. Preface: Introductory remarks on new and old quotatives (by Buchstaller, Isabelle) 3. Part I. Discourse perspectives 4. Impersonal quotation and hypothetical discourse (by Golato, Andrea) 5. By three means: The pragmatic functions of three Norwegian quotatives (by Hasund, Ingrid Kristine) 6. Part II. Typological perspectives 7. Minds divided: Speaker attitudes in quotatives (by Spronck, Stef) 8. Thetic speaker-instantiating quotative indexes as a cross-linguistic type (by Guldemann, Tom) 9. Part III. Functional and formal perspectives 10. On the characteristics of Japanese reported discourse: A study with special reference to elliptic quotation (by Oshima, David) 11. Quotative go and be like: Grammar and grammaticalization (by Vandelanotte, Lieven) 12. Quotation in sign languages: A visible context shift (by Herrmann, Annika) 13. Part IV. Language variation and change 14. Performed narrative: The pragmatic function of this is + speaker and other quotatives in London adolescent speech (by Fox, Sue) 15. Dutch quotative van: Past and present (by Coppen, Peter-Arno) 16. appendixGlossary of specialist terms for research in quotation 17. Author index 18. Index of terms