bluuebunny/crossref_metadata_2025_split huggingface dataset:
Three Novel Missense Mutations within the LHX4 Gene Are Associated with Variable Pituitary Hormone Deficiencies
Authors: Pfaeffle Roland W. , Hunter Chad S. , Savage Jesse J. , Duran-Prado Mario , Mullen Rachel D. , Neeb Zachary P. , Eiholzer Urs , Hesse Volker , Haddad Nadine G. , Stobbe Heike M. , Blum Werner F. , Weigel Johannes F. W. , Rhodes Simon J. 
Published: December 2007

AbstractContext: The LHX4 LIM-homeodomain transcription factor has essential roles in pituitary gland and nervous system development. Heterozygous mutations in LHX4 are associated with combined pituitary hormone deficiency.Objectives: Our objectives were to determine the nature and frequency of LHX4 mutations in patients with pituitary hormone deficiency and to examine the functional outcomes of observed mutations.Design: The LHX4 gene sequence was determined from patient DNA. The biochemical and gene regulatory properties of aberrant LHX4 proteins were characterized using structural predictions, pituitary gene transcription assays, and DNA binding experiments.Patients: A total of 253 patients from 245 pedigrees with GH deficiency and deficiency of at least one additional pituitary hormone was included in the study.Results: In five patients, three types of heterozygous missense mutations in LHX4 that result in substitution of conserved amino acids were identified. One substitution is between the LIM domains (R84C); the others are in the homeodomain (L190R; A210P). The patients have GH deficiency; some also display reductions in TSH, LH, FSH, or ACTH, and aberrant pituitary morphology. Structural models predict that the aberrant L190R and A210P LHX4 proteins would have impaired DNA binding and gene activation properties. Consistent with these models, EMSAs and transfection experiments using pituitary gene promoters demonstrate that whereas the R84C form has reduced activity, the L190R and A210P proteins are inactive.Conclusions: LHX4 mutations are a relatively rare cause of combined pituitary hormone deficiency. This report extends the range of phenotypes associated with LHX4 gene mutations and describes three novel exonic mutations in the gene.
Granulosa Cell Survival and Proliferation Are Altered in Polycystic Ovary Syndrome
Authors: Das M. , Djahanbakhch O. , Hacihanefioglu B. , Saridogan E. , Ikram M. , Ghali L. , Raveendran M. , Storey A. 
Published: December 2007

Abstract
Context: Polycystic ovary syndrome (PCOS) represents the most common endocrine abnormality in women of reproductive age. The cause of PCOS remains largely unknown, but studies suggest an intrinsic ovarian abnormality.
Objective: The objective of the study was to test our hypothesis that differences in granulosa cell proliferation and apoptosis may underlie abnormalities that affect follicular development.
Design: Granulosa cells were prepared from follicular fluid aspirated from 4- to 8-mm follicles of unstimulated ovaries during routine laparoscopy or laparotomy from women with anovulatory PCOS and those with regular ovulatory cycles.
Setting: The study was conducted at a university hospital.
Patients: Fourteen women with anovulatory PCOS and nine women with regular ovulatory cycles participated in the study.
Main Outcome Measures: Immunocytochemistry on granulosa cells to investigate apoptotic and proliferation rates, together with real-time RT-PCR to analyze gene expression profiles of apoptotic regulators, was measured.
Results: Significantly lower apoptotic rates were found in granulosa cells from patients with PCOS, compared with women with regular ovulatory cycles (P = 0.004). Lower apoptotic rates were associated with decreased levels of the apoptotic effector caspase-3 (P = 0.001) and increased levels of the anti-apoptotic survival factor cellular inhibitor of apoptosis proteins-2 in the PCOS group that were coupled to higher proliferation rates (P = 0.032). Gene expression profiling confirmed the immunocytochemical findings.
Conclusions: Our findings indicate that there are significant differences in the rate of cell death and proliferation in granulosa cell populations in PCOS patients. These are associated with decreased expression of apoptotic effectors and increased expression of a cell survival factor. These results provide new insights that may be useful in developing specific therapeutic intervention strategies in PCOS.
Antithyroperoxidase Antibody-Dependent Cytotoxicity in Autoimmune Thyroid Disease
Authors: Rebuffat Sandra A. , Nguyen Brigitte , Robert Bruno , Castex Françoise , Peraldi-Roux Sylvie 
Published: December 2007

Abstract
Context: Thyroid antibody-dependent cytotoxicity has been reported in autoimmune thyroid disease (AITD). Indeed, the role of thyroperoxidase (TPO) autoantibodies (aAbs) in complement-mediated damage by binding to TPO expressed on the surface of human thyroid cells was demonstrated, whereas their activity in antibody-dependent cell cytotoxicity (ADCC) is not well established.
Objective: The aim of this study was to define the partners involved in antibody and complement-dependent cytotoxicity (CDC) in AITD and characterize which effector cells are involved in cytotoxicity mediated by anti-TPO aAbs using a chromium release assay.
Results: The relative capability of anti-TPO aAbs to mediate ADCC using human thyroid cells in culture varies from 11 to 74.5%, depending on the effectors cells used. The human monocyte cell line HL60 gives a better lysis than the THP-1 cell line as effector cells. It seems obvious that the mechanism of ADCC is mediated quite exclusively by FcγRI. Indeed, the two effector cell lines differ by the level of the FcγRI expression (91.83% for HL-60 cells and 22.55%t for the THP-1). In addition to ADCC, the anti-TPO aAbs mediate the destruction of thyrocytes by CDC (56%).
Conclusions: These results demonstrate that anti-TPO aAbs can damage cultured thyroid cells by ADCC and CDC mechanisms. The monocytes, via their FcγRI, are important effector cells in ADCC mediated by anti-TPO aAbs and may contribute with T cells to the destruction of thyroid gland in AITD.
Generics: Cognition and Acquisition
Authors: Leslie Sarah-Jane 
Published: December 2007

`Ducks lay eggs' is a true sentence, and `ducks are female' is a false one. Similarly, `mosquitoes carry the West Nile virus' is obviously true, whereas `mosquitoes don't carry the West Nile virus' is patently false. This is so despite the egg-laying ducks' being a subset of the female ones and despite the number of mosquitoes that don't carry the virus being ninety-nine times the number that do. Puzzling facts such as these have made generic sentences defy adequate semantic treatment. However complex the truth conditions of generics appear to be, though, young children grasp generics more quickly and readily than seemingly simpler quantifiers such as `all' and `some'.I present an account of generics that not only illuminates the strange truth conditions of generics, but also explains how young children find them so comparatively easy to acquire. I then argue that generics give voice to our most cognitively primitive generalizations and that this hypothesis accounts for a variety of facts ranging from acquisition patterns to cross-linguistic data concerning the phonological articulation of operators. I go on to develop an account of the nature of these cognitively fundamental generalizations and argue that this account explains the strange truth-conditional behavior of generics.
Customer Lifetime Value Measurement
Authors: Borle Sharad , Singh Siddharth S. , Jain Dipak C. 
Published: December 2007

The measurement of customer lifetime value is important because it is used as a metric in evaluating decisions in the context of customer relationship management. For a firm, it is important to form some expectations as to the lifetime value of each customer at the time a customer starts doing business with the firm, and at each purchase by the customer. In this paper, we use a hierarchical Bayes approach to estimate the lifetime value of each customer at each purchase occasion by jointly modeling the purchase timing, purchase amount, and risk of defection from the firm for each customer. The data come from a membership-based direct marketing company where the times of each customer joining the membership and terminating it are known once these events happen. In addition, there is an uncertain relationship between customer lifetime and purchase behavior. Therefore, longer customer lifetime does not necessarily imply higher customer lifetime value. We compare the performance of our model with other models on a separate validation data set. The models compared are the extended NBD–Pareto model, the recency, frequency, and monetary value model, two models nested in our proposed model, and a heuristic model that takes the average customer lifetime, the average interpurchase time, and the average dollar purchase amount observed in our estimation sample and uses them to predict the present value of future customer revenues at each purchase occasion in our hold-out sample. The results show that our model performs better than all the other models compared both at predicting customer lifetime value and in targeting valuable customers. The results also show that longer interpurchase times are associated with larger purchase amounts and a greater risk of leaving the firm. Both male and female customers seem to have similar interpurchase time intervals and risk of leaving; however, female customers spend less compared with male customers.
Xeroradiographic detection of foreign bodies
Authors: Thompson David H. , Stasney C. Richard , Miller Tom 
Published: December 2007

AbstractA study was designed to assess the efficacy of xeroradiography for the identification of tracheal and esophageal foreign bodies. AP, lateral, and oblique conventional X‐rays and xeroradiograms were taken of non‐radio‐paque objects placed in the trachea and esophagus of a canine subject.Randomly numbered foreign body projections shown by conventional and xeroradiography were presented to radiologists with a list of the foreign bodies employed in the study. Series of films were also presented to radiologists and otolaryngologists who had no prior knowledge of types of foreign bodies used.There was no significant advantage of xeroradiography over conventional radiography in identification of the foreign bodies. Lateral and oblique projections were shown to be far superior to the AP projection for demonstration of foreign bodies.Based on these data we do not feel that the increase in radiation exposure necessitated by xeroradiography justifies its routine use. It is recommended only as an adjunctive diagnostic tool in specific circumstances.
Xeroradiography and otolaryngology
Authors: Henderson John A. , Colburn James E. , Morioka Wilford T. 
Published: December 2007

AbstractAs a diagnostic tool, a new horizon in otolaryngology has become apparent in the past several years. It is known as xeroradiography and is a convenient technique requiring minimal patient cooperation and enjoying excellent acceptability for both patients and physicians. Speed, efficiency and consistently high image quality make xeroradiography suitable for otolaryngologic applications in the office, as well as in operating and emergency rooms. All tissue densities are represented in a single image, eliminating the need for taking two films of different densities, while radiation exposure is the same. Now popular for use in mammography, the technique is especially useful for detailed studies of the areas of interest to otolaryngologists. Certain inherent disadvantages in the technique are mentioned and guidelines are given to make these disadvantages an acceptable trade‐off in actual application.
Anesthesia of the human tympanic membrane by iontophoresis of a local anesthetic
Authors: Comeau Maurice , Brummett Robert 
Published: December 2007

AbstractIontophoresis has been reported as a safe method of tympanic membrane anesthesia but data concerning variations and advances in technique are not available. Normal volunteers were used to determine the effects of varying canal preparation, epinephrine concentration, current level and duration. The two optimal techniques were compared in two groups of ten volunteers. A similar duration of anestheia (90 to 115 min.) was found for both techniques.Clinical application of two techniques for the purpose of myringotomy and/or ventilation tube placement was done in 60 ears of 49 selected private patients with middle ear effusions. Techniques were used at random in the first 23 ears with equal success. The newly developed dry canal preparation method using lower current and longer time was preferred, because of convenience and added safety, in the last 37 procedures. Failure of anesthesia occurred once with acute otitis media and once due to electrode displacement. Fifty‐eight procedures resulted in successful myringotomy and/or tube placement.Proper case selection, prevention of technical problems, advantages, and practical limitations of this anesthesia method are discussed.
Melanotic neuroectodermal tumor of infancy
Authors: Zajtchuk Joan T. , Lunsford Thomas M. , Alford Thomas J. 
Published: December 2007

AbstractThe lack of knowledge regarding the histogenesis of the melanotic neuroectodermal tumor of infancy may account for the numerous names given to this neoplasm. The most appropriate nomenclature is melanotic neuroectodermal tumor of infancy as this term is both clinically descriptive and reflects its most likely histogenesis. The histological diagnosis of this neoplasm and its known benign biological behavior should be appreciated so that radical surgery or radiotherapy is not undertaken. Our case report includes an electron microscopic analysis which is in keeping with other reported cases. We have not confirmed high urinary VMA levels prior to resection of the lesion.
The use of upper eyelid skin grafts in the head and neck
Authors: Goode Richard L. 
Published: December 2007

AbstractFull thickness upper eyelid skin obtained by an upper blepharoplasty may be the graft of choice for correcting a variety of head and neck defects. It is particularly useful in the lower eyelids, nasal vestibule, external ear canal, concha and anterior oral cavity because of its thinness, high take rate, minimal shrinkage and good color match.
Beliefs About Medicines and Adherence Among Swedish Migraineurs
Authors: Hedenrud Tove , Jonsson Pernilla , Linde Mattias 
Published: December 2007

Background: The problem of low adherence to drug therapy is as prevalent in migraine as in any other disorder, with important consequences for the patient, such as impaired quality of life and absence from work. Beliefs about medicines have been identified as one of the most significant factors for adherence. Objective: To analyze whether beliefs about medicines and medication-related factors are associated with adherence to prophylactic drug therapy among migraineurs at a Swedish tertiary care clinic. Methods: A questionnaire was distributed to migraineurs visiting a tertiary care clinic in Sweden. All participants had recently been prescribed prophylactic medicine. The questionnaire was comprised of background questions, questions about disease characteristics, perceived effects, and adverse effects of migraine medications used, the Beliefs about Medicines questionnaire, and the Medication Adherence Report Scale. Medication-related variables, collected from patients’ records with consent, were also included. Logistic regression analysis was performed to analyze the association between beliefs about medicines, medication-related variables, and adherence to prophylactic drugs. Results: Of the 174 participants in the study, 64% were considered to be adherent to their prescribed prophylactic medicine. Users of β-blockers were significantly more adherent compared with patients using other drugs (eg, tricyclic antidepressants [TCAs) or antiepileptics); the reverse was true for patients taking TCAs. Respondents with the lowest level of education (≤9 y) expressed less concern about drugs and had a higher necessity-concerns differential compared with respondents with a higher educational level. In the final regression model, no variable was significantly associated with adherence. Conclusions: About one-third of the migraineurs did not adhere to their prophylactic drugs. Beliefs about medicines and medication-related factors could not predict nonadherence. We recommend further research on medication-related variables in relation to adherence among migraineurs.
Is the cryptic alien seaweed Ulva pertusa (Ulvales, Chlorophyta) widely distributed along European Atlantic coasts?
Authors: López Sergio Baamonde , Fernández Irene Baspino , Lozano Rodolfo Barreiro , Ugarte Javier Cremades 
Published: December 2007

Abstract

Ulva pertusa Kjellman (Ulvales, Chlorophyta), which is widely distributed in the Pacific Ocean, has been detected on the NW Atlantic coast of the Iberian Peninsula (Galicia, Spain). The material has lobed and perforated blades, without marginal teeth, and with characteristic wrinkling at the base; it has an average thickness of 150 μm in the upper basal zone. Cells have a single chloroplast with (1-) 2 (-3) pyrenoids and, in surface view, show only local ordering. In transverse sections, cells are squarish or oblong, with rounded corners. Blades have a wide fertile margin with cells containing up to 28 gametes. The species-level identification as U. pertusa was confirmed by molecular studies (rbcL sequence analysis). This is the first report for this opportunistic species from the Iberian Peninsula. Its introduction is probably attributable to the importation of biological material for shellfish culture.
Ascoma development in the marine ascomycete Corollospora gracilis (Halosphaeriales, Hypocreomycetidae, Sordariomycetes)
Authors: Hsieh Sung-Yuan , Moss Stephen T. , Jones E.B. Gareth 
Published: December 2007

Abstract
Ascoma initials in the marine ascomycete Corollospora gracilis (Halosphaeriales) are formed from a coiled ascogonium following antheridium-ascogonium conjugation. Dikaryotic ascogenous initial cells derived from the distal end of the ascogonial coil produce ascogenous hyphae that then form the hymenium. Basal regions of the ascogonial coil and the initial investing hyphae form the sterile centrum tissue including the plug, separation layer, and centrum pseudoparenchyma. Pit-connections of the centrum pseudoparenchyma are normal ascomycetous septa. Thick-walled, non-melanized plug cells and a thin melanized separation layer form at the base of the ostiolar canal to delimit the centrum from the external environment. The subiculum that attaches the ascomata to sand grains is comprised of aggregated hyphopodia and mucilage.
Mechanisms of invasion: establishment, spread and persistence of introduced seaweed populations
Authors: Valentine Joseph P. , Magierowski Regina H. , Johnson Craig R. 
Published: December 2007

Abstract
Understanding the mechanisms that facilitate or inhibit invasion of exotic seaweeds is crucial in assessing the threat posed by their incursion and to define control options. In this paper, we consider how life history characteristics of the invading species and properties of the recipient environment influence the likelihood of invasion, giving particular emphasis to how disturbance influences the establishment, spread and persistence of introduced seaweed populations. Very few commonalities in key life history traits emerge since each species possesses a unique set of traits that confers a high capacity for invasiveness. Consequently, for seaweeds at least, predictions of invasibility based on life history characters alone are unlikely to be useful. In contrast, it is clear that disturbance is an important process in the establishment of these invasive species. With the possible exception of Caulerpa taxifolia, disturbance appears to be a critical factor that is either a key requirement (e.g., Codium fragile ssp. tomentosoides, Sargassum muticum and Undaria pinnatifida), or which accelerates (e.g., Fucus serratus) establishment and spread. The role of disturbance in the persistence of the invaders is more complex and depends on the species concerned. In several cases there is substantial evidence for positive feedback mechanisms that enable introduced species to persist in the absence of the disturbance factor that facilitated establishment in the first place. These circumstances define examples of ecological hystereses that pose particular challenges for management and control. The evidence suggests that, in several cases, preventing anthropogenically mediated disturbance to canopies of native seaweeds should be considered as a potential control option to minimise the risk of establishment of exotic species at high densities. However, for these kinds of introduced species, once they are established, control options that primarily target the disturbance are unlikely to represent viable management options.
Methods for identifying and tracking seaweed invasions
Authors: Meinesz Alexandre 
Published: December 2007

Abstract
Tracking macroalgal invasions relies on a variety of approaches and techniques, including random sampling, active tracking near sources of introduction, and identification of alien species and their vectors of introduction using both classical means (based on taxonomical and biogeographical knowledge) and molecular tools. To identify the invaded ecosystems, and to describe the rate of spread and invasion dynamics, other approaches must be used, including mapping techniques and public awareness campaigns. In these endeavours, standardisation of geographical and density data is important. The tracking of alien species before eradication or control measures are instigated requires special cartographic techniques. This paper provides a general overview of these different approaches and the specific strategies adapted to the biological and ecological characteristics of particular species.
Molecular approaches to the study of invasive seaweeds
Authors: Booth David , Provan Jim , Maggs Christine A. 
Published: December 2007

Abstract
A wide range of vectors is currently introducing a plethora of alien marine species into indigenous marine species assemblages. Over the past two decades, molecular studies of non-native seaweeds, including cryptic invaders, have successfully identified the species involved and their sources; we briefly review these studies. As yet, however, little research has been directed towards examining the genetic consequences of seaweed invasions. Here we provide an overview of seaweed invasions from a genetic perspective, focusing on invader species for which the greatest amount of information is available. We review invasion processes, and rationalize evolutionary and genetic consequences for the indigenous and invader species into two main groups: (1) changes in gene-pool composition, in population structure and allele frequencies; and (2) changes in genome organization at the species level through hybridization, and in individual gene expression profiles at the levels of expressed messenger RNA and the proteome (i.e., all proteins synthesized) and thus the phenotype. We draw on studies of better-known aquatic and terrestrial organisms to point the way forward in revealing the genetic consequences of seaweed invasions. We also highlight potential applications of more recent methodological and statistical approaches, such as microarray technology, assignment tests and mixed stock analysis.