bluuebunny/crossref_metadata_2025_split huggingface dataset:
Endocrine Abnormalities in Patients with Fanconi Anemia
Authors: Giri Neelam , Batista Dalia L. , Alter Blanche P. , Stratakis Constantine A. 
Published: April 2007

AbstractBackground: Fanconi anemia (FA) is an inherited disorder with chromosomal instability, bone marrow failure, developmental defects, and a predisposition to cancer. Systematic and comprehensive endocrine function data in FA are limited.Objective: We studied a cohort of FA patients enrolled in the National Cancer Institute’s Inherited Bone Marrow Failure Syndrome study.Study Design and Patients: Retrospective review of the medical records of 45 FA patients (ages 2–49 yr), 23 of whom were intensively evaluated at the National Institutes of Health. Anthropometric measurements, GH, IGF-I, IGF binding protein-3, thyroid, gonadal hormone, lipid levels, glucose homeostasis, brain imaging, and bone mineral density were obtained in these latter patients.Results: Endocrine abnormalities were present in 73%, including short stature and/or GH deficiency (51%), hypothyroidism (37%), midline brain abnormalities (17%) (these patients had very short stature and 60% were GH-deficient); abnormal glucose/insulin metabolism (39%); obesity (27%); dyslipidemia (55%); and metabolic syndrome (21%). Patients with any endocrine abnormality were shorter than those without; only GH deficiency correlated significantly with short stature (P = 0.01). In addition, 65% of peripubertal or postpubertal patients had gonadal dysfunction. Ninety-two percent of the patients 18 yr or older had osteopenia or osteoporosis.Conclusions: Endocrine dysfunction is widespread in children and adults with FA; we expand the FA phenotype to include early onset osteopenia/osteoporosis and lipid abnormalities. Despite the reputation of FA as a progressive, lethal disease, proper management of the full spectrum of FA-related endocrinopathy offers major opportunities to reduce morbidity and improve quality of life. Our findings emphasize the need for comprehensive endocrine and metabolic evaluation and long-term follow-up in patients with FA.
The Presence of the d3-Growth Hormone Receptor Polymorphism Is Negatively Associated with Fetal Growth but Positively Associated with Postnatal Growth in Healthy Subjects
Authors: Jensen Rikke Beck , Vielwerth Signe , Larsen Torben , Greisen Gorm , Leffers Henrik , Juul Anders 
Published: April 2007

Abstract
Context: A common polymorphism in the GH receptor (GHR) gene has been linked to increased growth response in GH-treated patients. No former study has focused on the association to prenatal growth.
Objective: The aim of the study was to evaluate the association between the d3-GHR isoforms and spontaneous pre- and postnatal growth.
Design: A prospective study was conducted on third-trimester fetal growth velocity (FGV), birth weight, birth length, and postnatal growth.
Setting: The study was conducted at Copenhagen University Hospital.
Participants: A total of 115 healthy adolescents were divided into those born small for gestational age (SGA) and appropriate for gestational age with or without intrauterine growth restriction.
Main Outcome Measures: FGV was measured by serial ultrasonography, birth weight, birth length, and adolescent height. Isoforms of the d3-GHR gene (fl/fl, d3/fl, and d3/d3) were determined.
Results: The prevalence of the d3-GHR isoforms was 50% but differed among the groups (P = 0.006), with a high prevalence (88%) in the group born SGA with verified intrauterine growth restriction. The d3-GRH allele were associated with decreased third-trimester FGV (P = 0.05) in SGA subjects. In the entire cohort, carriers of the d3-GHR allele had a significantly increased height (−0.10 vs. 0.34 sd score; P = 0.017) and change in height from birth to adolescence compared with carriers of the full-length GHR allele (0.57 vs. −0.02 sd score; P = 0.005).
Conclusions: This study showed an increased spontaneous postnatal growth velocity in the carriers of the d3-GHR allele. Interestingly, we found the opposite effect on prenatal growth in the SGA group, with a decreased FGV in carriers of the d3-GHR allele.
Surface-Scanning Mutational Analysis of Protein Arginine Methyltransferase 1: Roles of Specific Amino Acids in Methyltransferase Substrate Specificity, Oligomerization, and Coactivator Function
Authors: Lee David Y. , Ianculescu Irina , Purcell Daniel , Zhang Xing , Cheng Xiaodong , Stallcup Michael R. 
Published: April 2007

AbstractProtein arginine methyltransferase 1 (PRMT1) is an arginine-specific protein methyltransferase that methylates a number of proteins involved in transcription and other aspects of RNA metabolism. Its role as a transcriptional coactivator for nuclear receptors involves its ability to bind to other coactivators, such as glucocorticoid receptor-interacting protein 1 (GRIP1), as well as its ability to methylate histone H4 and coactivators such as peroxisome proliferator-activated receptor γ coactivator-1α. Its ability to form homodimers or higher-order homo-oligomers also is important for its methyltransferase activity. To understand the function of PRMT1 further, 19 surface residues were mutated, based on the crystal structure of PRMT1. Mutants were characterized for their ability to bind and methylate various substrates, form homodimers, bind GRIP1, and function as a coactivator for the androgen receptor in cooperation with GRIP1. We identified specific surface residues that are important for methylation substrate specificity and binding of substrates, for dimerization/oligomerization, and for coactivator function. This analysis also revealed functional relationships between the various activities of PRMT1. Mutants that did not dimerize well had poor methyltransferase activity and coactivator function. However, surprisingly, all dimerization mutants exhibited increased GRIP1 binding, suggesting that the essential PRMT1 coactivator function of binding to GRIP1 may require dissociation of PRMT1 dimers or oligomers. Three different mutants with altered substrate specificity had widely varying coactivator activity levels, suggesting that methylation of specific substrates is important for coactivator function. Finally, identification of several mutants that exhibited reduced coactivator function but appeared normal in all other activities tested, and finding one mutant with very little methyltransferase activity but normal coactivator function, suggested that these mutated surface residues may be involved in currently unknown protein-protein interactions that are important for coactivator function.
Prolonged Renal Failure Secondary to Antithymocyte Globulin Treatment in Severe Aplastic Anemia
Authors: Barakat Ruchdi K , Schmolck Johann P , Finkel Kevin W , Foringer John R 
Published: April 2007

Objective: To report a case of acute renal failure in a patient with severe aplastic anemia after administration of antithymocyte globulin (ATG). Case Summary: A 41-year-old man diagnosed with severe aplastic anemia was treated with ATG and cyclosporine. After one dose of ATG (3012 mg. 40 mg/kg), the patient developed anuric acute renal failure, with serum creatinine 3.4 mg/dL (1.2 mg/dL at baseline) and blood urea nitrogen (BUN) 29 mg/dL (13 mg/dL at baseline), which required intermittent hemodialysis. Renal failure resolved with cessation of the drug, serum creatinine and BUN returned to baseline levels, and the patient no longer required hemodialysis. Discussion: ATG is a purified and concentrated gamma globulin, primarily a monomeric immunoglobulin G from hyperimmune serum of horses. It is widely used to treat severe aplastic anemia and to manage acute transplant rejection. This patient had no other confounding factors for the cause of the renal failure. An objective causality assessment using the Naranjo probability scale suggested that ATG was the probable cause of the acute renal failure. Primary glomerular disease was not excluded, as a renal biopsy was not performed. Conclusions: The association between renal injury and administration of ATG remains unclear; therefore, we recommend that renal function be assessed and carefully monitored prior to and after administration of ATG.
Hybrid Approach to Design Optimisation: Preserve Accuracy, Reduce Dimensionality
Authors: Kamola Mariusz 
Published: April 2007

Hybrid Approach to Design Optimisation: Preserve Accuracy, Reduce DimensionalityThe paper proposes a design procedure for the creation of a robust and effective hybrid algorithm, tailored to and capable of carrying out a given design optimisation task. In the course of algorithm creation, a small set of simple optimisation methods is chosen, out of which those performing best will constitute the hybrid algorithm. The simplicity of the method allows implementing ad-hoc modifications if unexpected adverse features of the optimisation problem are found. It is postulated to model a system that is smaller but conceptually equivalent, whose model is much simpler than the original one and can be used freely during algorithm construction. Successful operation of the proposed approach is presented in two case studies (power plant set-point optimisation and waveguide bend shape optimisation). The proposed methodology is intended to be used by those not having much knowledge of the system or modelling technology, but having the basic practice in optimisation. It is designed as a compromise between brute force optimisation and design optimisation preceded by a refined study of the underlying problem. Special attention is paid to cases where simulation failures (regardless of their nature) form big obstacles in the course of the optimisation process.
FSM Encoding for BDD Representations
Authors: Gosti Wilsin , Villa Tiziano , Saldanha Alex , Sangiovanni-Vincentelli Alberto 
Published: April 2007

FSM Encoding for BDD RepresentationsWe address the problem of encoding the state variables of a finite state machine such that the BDD representing the next state function and the output function has the minimum number of nodes. We present an exact algorithm to solve this problem when only the present state variables are encoded. We provide results on MCNC benchmark circuits.
The potential causes of cyanobacterial blooms in Baltic Sea estuaries
Authors: Pliński Marcin , Mazur-Marzec Hanna , Jóźwiak Tomasz , Kobos Justyna 
Published: April 2007

Abstract

Nodularia spumigena Mertens, Aphanizomenon flos-aquae (L.) Ralfs and some species of the genus Anabaena are the dominant cyanobacterial taxa occurring in the Gulf of Gdańsk. The heterocystous cyanobacteria use dissolved molecular N2 as an additional nitrogen source, and this allows them to bloom during the summer when growth of other phytoplankton species is normally nitrogen-limited. Although cyanobacterial blooms have been reported in the Baltic Sea since the mid-19th century, the extent and intensity of blooms have recently increased due to anthropogenic sources of eutrophication. Increased river phosphorus input and changes in the phosphorus to nitrogen ratio are implicated as causal factors. After us the initial cause of the cyanobacterial bloom is a low N:P ratio, which indicates phosphorus excess, i.e. favourable nutrient conditions for nitrogen-fixing algae. An N:P ratio of 10 has been considered an approximate value for the N:P requirements of Baltic phytoplankton. For several years this ratio has been lower than 10.
The mean annual value of the N:P ratio for the water of the Gulf of Gdańsk ranged from 3 to 7. Differences in the intensity of blooms observed in different years could be linked to temperature. During hot summers, when the seawater temperature increased to 20°C, large blooms were noted. For the cyanobacterial blooms in the Baltic Sea, the low N:P ratio is the primary factor and high temperature is a starting point.
Modeling water exchange in the Oder River mouth area
Authors: Kowalewska-Kalkowska Halina , Kowalewski Marek 
Published: April 2007

Abstract
A three-dimensional operational hydrodynamic model of the Baltic Sea (M3D_UG) developed based on the Princeton Ocean Model (POM) was applied to model water exchange in the Oder River mouth area. Due to wind-driven back flow in the Oder mouth, a simplified operational model of river discharge was also developed based on the water budget in a stream channel. Linking the Oder discharge and Baltic Sea models into a single system allowed simulating hydrodynamic conditions in the Szczecin Lagoon and the Pomeranian Bay. Since the model adequately approximates hydrodynamic variability, it is a reliable tool for modeling water exchange in the Oder River mouth area and for assessing Oder water spread in the Baltic Sea.
Water level fluctuations in the Odra River mouth area in relation to passages of deep low-pressure systems
Authors: Wiśniewski Bernard , Kowalewska-Kalkowska Halina 
Published: April 2007

Abstract
The Odra River mouth area is affected by storm surges caused by passages of deep low-pressure systems over the Baltic Sea. The surges are the result of wind action and changes in atmospheric pressure at the sea surface. The two effects may be additive, in which both factors increase or decrease the sea level on the coast, or they may be non-additive, where one factor increases the sea level and the other decreases it. This paper discusses the role of the wind field and changes in atmospheric pressure in the duration and extent of storm surges in the Odra River mouth area.
Frequency domain analysis of heart rate variability in horses at rest and during exercise
Authors: Physick‐Sheard P. W. , Marlin D. J. , Thornhill R. , Schroter R. C. 
Published: April 2007

SummaryThe pattern of variation in heart rate on a beat‐to‐beat basis contains information concerning sympathetic (SNS) and parasympathetic (PNS) contributions to autonomic nervous system (ANS) modulation of heart rate (HR). In the present study, heart period (RR interval) time series data were collected at rest and during 3 different treadmill exercise protocols from 6 Thoroughbred horses. Frequency and spectral power were determined in 3 frequency bands: very low (VLF) 0–≤ 0.01, low (LO) >0.01–≤ 0.07 and high (HI) >0.07–≤ 0.5 cycles/beat. Indicators of sympathetic (SNSI = LO/HI) and parasympathetic (PNSI = HI/TOTAL) activity were calculated. Power in all bands fell progressively with increasing exercise intensity from rest to trot. At the gallop VLF and LO power continued to fall but HI power rose. SNSI rose from rest to walk, then fell with increasing effort and was lowest at the gallop. PNSI fell from rest to walk, then rose and was highest at the gallop. Normalised HI power exceeded combined VLF and LO power at all gaits, with the ratio HI to LO power being lowest at the walk and highest at the gallop. ANS indicators showed considerable inter‐horse variation, and varied less consistently than raw power with increasing physical effort. In the horses studied, the relationship between power and HR changed at exercise intensities associated with heart rates above approximately 120–130 beats/min. At this level, humoral and other non‐neural mechanisms may become more important than autonomic modulation in influencing heart rate and heart rate variability (HRV). HRV at intense effort may be influenced by respiratory‐gait entrainment, energetics of locomotion and work of breathing. HRV analysis in the frequency domain would appear to be of potential value as a noninvasive means of assessing autonomic modulation of heart rate at low exercise intensities, only. The technique may be a sensitive method for assessing exercise response to experimental manipulations and disease states.
Six intestinal microflora‐associated characteristics in sport horses
Authors: Collinder E. , Lindholm A. , Midtvedt T. , Norin E. 
Published: April 2007

SummaryThe aim of this study was to investigate 6 microflora‐ associated characteristics (MACs) in faecal samples from horses and to compare the results with baselines previously established in other mammals. A MAC is defined as any anatomical structure, physiological, biochemical or immunological characteristic in a host, which has been acted on by microorganisms. When the active microbes are absent, as in germ‐free animals and healthy newborn organisms, the corresponding characteristic is defined as germ‐free animal characteristic (GAC). The MACs studied were degradation of mucin, conversion of cholesterol to coprostanol and bilirubin to urobilinogens, inactivation of tryptic activity, degradation of β‐aspartylglycine and excretion of short‐chain fatty acids. Five MACs were studied in 19 sport horses and the mucin pattern investigated in 25 other sport horses. Our results show that conversion of cholesterol to coprostanol was present in all horses, irrespective of diet. All horses also demonstrated excretion of urobilinogens; however, the values varied depending on diet. Mucin and β‐aspartylglycine were totally degraded, as occurs similarly in other animal species. Excretion of short‐chain fatty acids was lower than values previously found in man, rats and pigs, and the level of faecal tryptic activity was low. Our results show that the MAC/GAC concept is as good in monogastric herbivores as in omnivores for investigations of endogenous and exogenous factors influencing the intestinal ecosystem(s). Therefore, use of the MAC/GAC concept has a potential significance for future studies on functions related to the microflora.
Altered immune responses to a heterologous protein in ponies with heavy gastrointestinal parasite burdens
Authors: EDMONDS J. D. , HOROHOV D. W. , CHAPMAN M. R. , POURCIAU S. S. , ANTOKU K. , SNEDDEN K. , KLEI T. R. 
Published: April 2007

SummaryThis study was performed to test the hypothesis that immunity to heterologous vaccination would improve when the parasites were removed. It was also expected that parasitised ponies would exhibit a biased Th2 cytokine response to KLH immunisation.Helminth parasites are common in horses even in the era of highly effective broad‐spectrum antiparasiticides. These parasites have been shown to alter the outcome to heterologous immunisation in a number of host species. The effect of gastrointestinal parasites on heterologous vaccination has not been addressed in equids. In the current study, humoral, lymphoproliferative, and cytokine responses to a single i.m. injection of keyhole limpet haemocyanin (KLH) were compared between groups of ponies with high, medium or low gastrointestinal parasite burdens. Antibody levels determined by ELISA showed that animals with low levels of parasites had a trend toward increased KLH specific total immunoglobulin, IgG(T) and IgA compared to heavily parasitised ponies. Medium and heavily parasitised ponies demonstrated a trend toward reduced lymphoproliferative response to KLH that was not restored after the addition of interleukin‐2 (Il‐2). Cells from these ponies also produced significantly lower levels of IL‐4 compared to lightly parasitised ponies. These data indicate that heavily parasitised ponies have uniformly decreased cellular and humoral immune responses to soluble protein immunisation. The mechanisms involved may have potential deleterious effects on standard vaccine protocols of parasitised equines.
Effect of dental correction on feed digestibility in horses
Authors: RALSTON S. L. , FOSTER D. L. , DIVERS T. , HINTZ H. F. 
Published: April 2007

SummaryTo test the hypothesis that routine dental correction (removal only of sharp hooks and points from molars and premolars) would improve digestion of a hay/grain ration whereas performance ‘floats’ (rounding and smoothing of the dental arcades) would adversely affect digestion, 8 mature horses free from dental correction for over a year were used. Five‐day digestion trials were conducted before and 2 and 4 weeks after correction in all horses. Although all horses had sharp points and minor premolar hooks, none had severe dental abnormalities. There were no significant differences found in apparent digestion of dry matter, crude protein, neutral detergent fibre or acid detergent fibre relative to precorrection data or controls (uncorrected horses on same digestion trial). Apparent digestibility of crude protein and fibre, however, was reduced if the occlusal angle of premolar 307 was greater than 80 degrees relative to the vertical axis (flattened). It should be recommended that regular dental correction be continued. However, if only small points and hooks are present, correction will not significantly improve digestion. Performance floating does not adversely affect digestion 2–4 weeks after the procedure is performed. Alterations in molar occlusal surface angle may affect digestibility of protein and fibre.
M cells and associated lymphoid tissue of the equine nasopharyngeal tonsil
Authors: KUMAR P. , TIMONEY J. F. , SHEORAN A. S. 
Published: April 2007

Summary The aim of this study was to characterise the morphological and histochemical features of equine nasopharyngeal tonsillar tissue. Nasal and oropharyngeal tonsillar tissue has been described as the gatekeeper to mucosal immunity because of its strategic location at the entrance to the respiratory and alimentary tracts. A combination of light, scanning and transmission electron microscopy has revealed the presence of follicle‐associated epithelium (FAE) overlying lymphoid tissue of the equine nasopharyngeal tonsil caudal to the pharyngeal opening of the guttural pouch. Membranous microvillus (M) cells were identified in the FAE on the basis of short microvilli, an intimate association with lymphocytes, cytoplasmic vimentin filaments and epitopes on the apical surface reactive with lectin GS I‐B4 specific for α‐linked galactose. CD4‐positive lymphocytes were scattered throughout the lamina propria mucosae as well as forming dense aggregates in the subepithelial part. The central follicular area was heavily populated with B lymphocytes and the dome and parafollicular areas contained both CD4‐ and CD8‐positive lymphocytes. CD8‐positive lymphocytes were also present in the epithelium and, together with B lymphocytes, in small numbers in the lamina propria mucosae. These observations indicate that the nasopharyngeal tonsil is potentially an important mucosal immune induction site in the horse and an appropriate target forintranasally administered vaccines.
Quantification of the response of equine apocrine sweat glands to β2‐adrenergic stimulation
Authors: SCOTT C. M. , MARLIN D. J. , SCHROTER R. C. 
Published: April 2007

SummaryThe aim of the present study was to characterise the quantitative sweating response of the horse to β2‐adrenergic stimulation. The sweating responses of 6 horses to the randomised infusion of 8 different adrenaline concentrations (0.025, 0.05, 0.075, 0.1, 0.2, 0.4, 1.0 or 2.0 μg/kg bwt/min), was investigated. Sweating rate (SR) and skin temperature (TSK) on the neck (N) and gluteal region (G), and plasma adrenaline and noradrenaline concentrations were measured. Peak SR was 15 (N) and 9 g/m2/min (G) during infusion of both 1.0 and 2.0 μg/kg bwt/min adrenaline. Sweat produced per nmol/l plasma adrenaline peaked during the infusion of 0.075 μg/kg bwt/min adrenaline. Higher adrenaline infusion concentrations resulted in a progressive decrease in the amount of sweat produced per nmol/l plasma adrenaline and a plateau of 6 g/m2/(nmol/l) plasma adrenaline was reached for infusions between 1.0 and 2.0 μg/kg bwt/min. Peak SR were far lower than we have previously reported during exercise. There was no evidence of sweat gland fatigue or vasoconstriction during infusion, suggesting saturation of sweat gland β2 receptors. We conclude that sweating in the horse is under dual control from a combination of hormonal and neural mechanisms.