bluuebunny/crossref_metadata_2025_split huggingface dataset:
Conserved and species-specific alternative splicing in mammalian genomes
Authors: Nurtdinov Ramil N , Neverov Alexey D , Favorov Alexander V , Mironov Andrey A , Gelfand Mikhail S 
Published: December 2007

Abstract

Background
Alternative splicing has been shown to be one of the major evolutionary mechanisms for protein diversification and proteome expansion, since a considerable fraction of alternative splicing events appears to be species- or lineage-specific. However, most studies were restricted to the analysis of cassette exons in pairs of genomes and did not analyze functionality of the alternative variants.

Results
We analyzed conservation of human alternative splice sites and cassette exons in the mouse and dog genomes. Alternative exons, especially minor-isofom ones, were shown to be less conserved than constitutive exons. Frame-shifting alternatives in the protein-coding regions are less conserved than frame-preserving ones. Similarly, the conservation of alternative sites is highest for evenly used alternatives, and higher when the distance between the sites is divisible by three. The rate of alternative-exon and site loss in mouse is slightly higher than in dog, consistent with faster evolution of the former. The evolutionary dynamics of alternative sites was shown to be consistent with the model of random activation of cryptic sites.

Conclusion
Consistent with other studies, our results show that minor cassette exons are less conserved than major-alternative and constitutive exons. However, our study provides evidence that this is caused not only by exon birth, but also lineage-specific loss of alternative exons and sites, and it depends on exon functionality.
Checkpoint effects and telomere amplification during DNA re-replication in fission yeast
Authors: Mickle Katie L , Oliva Anna , Huberman Joel A , Leatherwood Janet 
Published: December 2007

Abstract

Background
Although much is known about molecular mechanisms that prevent re-initiation of DNA replication on newly replicated DNA during a single cell cycle, knowledge is sparse regarding the regions that are most susceptible to re-replication when those mechanisms are bypassed and regarding the extents to which checkpoint pathways modulate re-replication. We used microarrays to learn more about these issues in wild-type and checkpoint-mutant cells of the fission yeast, Schizosaccharomyces pombe.

Results
We found that over-expressing a non-phosphorylatable form of the replication-initiation protein, Cdc18 (known as Cdc6 in other eukaryotes), drove re-replication of DNA sequences genome-wide, rather than forcing high level amplification of just a few sequences. Moderate variations in extents of re-replication generated regions spanning hundreds of kilobases that were amplified (or not) ~2-fold more (or less) than average. However, these regions showed little correlation with replication origins used during S phase. The extents and locations of amplified regions in cells deleted for the checkpoint genes encoding Rad3 (ortholog of human ATR and budding yeast Mec1) and Cds1 (ortholog of human Chk2 and budding yeast Rad53) were similar to those in wild-type cells. Relatively minor but distinct effects, including increased re-replication of heterochromatic regions, were found specifically in cells lacking Rad3. These might be due to Cds1-independent roles for Rad3 in regulating re-replication and/or due to the fact that cells lacking Rad3 continued to divide during re-replication, unlike wild-type cells or cells lacking Cds1. In both wild-type and checkpoint-mutant cells, regions near telomeres were particularly susceptible to re-replication. Highly re-replicated telomere-proximal regions (50–100 kb) were, in each case, followed by some of the least re-replicated DNA in the genome.

Conclusion
The origins used, and the extent of replication fork progression, during re-replication are largely independent of the replication and DNA-damage checkpoint pathways mediated by Cds1 and Rad3. The fission yeast pattern of telomere-proximal amplification adjacent to a region of under-replication has also been seen in the distantly-related budding yeast, which suggests that subtelomeric sequences may be a promising place to look for DNA re-replication in other organisms.
Obesity and craniofacial variables in subjects with obstructive sleep apnea syndrome: comparisons of cephalometric values
Authors: Cuccia Antonino M , Campisi Giuseppina , Cannavale Rosangela , Colella Giuseppe 
Published: December 2007

AbstractBackgroundThe aim of this paper was to determine the most common craniofacial changes in patients suffering Obstructive Sleep Apnea Syndrome (OSAS) with regards to the degree of obesity. Accordingly, cephalometric data reported in the literature was searched and analyzed.MethodsAfter a careful analysis of the literature from 1990 to 2006, 5 papers with similar procedural criteria were selected. Inclusion criteria were: recruitment of Caucasian patients with an apnea-hypopnea index (AHI) >10 as grouped in non-obese (Body Mass Index – [BMI] < 30)vs. obese (BMI ≥ 30).ResultsA low position of the hyoid bone was present in both groups. In non-obese patients, an increased value of the ANB angle and a reduced dimension of the cranial base (S-N) were found to be the most common finding, whereas major skeletal divergence (ANS-PNS ^Go-Me) was evident among obese patients. No strict association was found between OSAS and length of the soft palate.ConclusionIn both non-obese and obese OSAS patients, skeletal changes were often evident; with special emphasis of intermaxillary divergence in obese patients. Unexpectedly, in obese OSAS patients, alterations of oropharyngeal soft tissue were not always present and did not prevail.
Electric Field–Enhanced Sensitivity of Grafted Ligands and Receptors
Authors: Negi Ajay Singh , Sood Ajay Kumar 
Published: December 2007

Abstract
Background: Particle-based agglutination tests consisting of receptors grafted to colloidal microparticles are useful for detecting small quantities of corresponding ligands of interest in fluid test samples, but detection limits of such tests are limited to a certain concentration and it is most desirable to lower the detection limits and to enhance the rate of recognition of ligands.
Methods: A mixture of receptor-coated colloidal microparticles and corresponding ligand was sandwiched between 2 indium tin oxide–coated glass plates. Electrohydrodynamic drag from an alternating-current electric field applied perpendicular to the plates increased the local concentration of the colloidal particles, improving the chances of ligand-receptor interaction and leading to the aggregation of the colloidal particles.
Results: With this technique the sensitivity of the ligand-receptor recognition was increased by a factor as large as 50.
Conclusions: This method can improve the sensitivity of particle-based agglutination tests used in immunoassays and many other applications such as immunoprecipitation and chemical sniffing.
Association of Circulating Lactoferrin Concentration and 2 Nonsynonymous LTF Gene Polymorphisms with Dyslipidemia in Men Depends on Glucose-Tolerance Status
Authors: Moreno-Navarrete José Maria , Ortega Francisco José , Bassols Judit , Castro Antoni , Ricart Wifredo , Fernández-Real José Manuel 
Published: December 2007

AbstractBackground: Lactoferrin, an innate immune protein with antiinflammatory properties, shows considerable antiatherosclerosis activity in animal studies. We investigated the relationship between circulating lactoferrin, lactoferrin gene (LTF, lactotransferrin) polymorphisms, dyslipidemia, and vascular reactivity in the context of glucose-tolerance status in men.Methods: We evaluated 2 nonsynonymous LTF polymorphisms (rs1126477 and rs1126478) and measured circulating lactoferrin concentrations by ELISA under nonstressed conditions in healthy Caucasian men (n = 188) and male patients with an altered glucose tolerance (n = 202). We also studied the association of lactoferrin concentration with vascular reactivity via high-resolution ultrasound analysis of the brachial artery in a subsample of study participants.Results: Circulating lactoferrin concentration was inversely associated with fasting triglyceride concentration (r = −0.24; P = 0.001), body mass index (BMI) (r = −0.20; P = 0.007), waist-to-hip ratio (r = −0.35; P &lt;0.001), and fasting glucose concentration (r = −0.18; P = 0.01), and directly correlated with HDL cholesterol concentration (r = 0.21; P = 0.004). Control AG heterozygotes for rs1126477 had significantly decreased fasting triglyceride concentrations (P = 0.001). Similarly, control individuals who were G carriers for rs1126478 had significantly lower fasting triglyceride concentrations (P = 0.044) and significantly higher HDL cholesterol concentrations (P = 0.028) than AA homozygotes. These associations remained significant after controlling for age, BMI, waist-to-hip ratio, fasting glucose concentration, smoking status, and alcohol intake. Circulating lactoferrin concentration was not significantly associated with endothelium-dependent vasodilatation (EDVD) in the individuals studied (n = 95); however, lactoferrin was positively associated with EDVD in obese participants with an altered glucose tolerance (r = 0.54; P = 0.04).Conclusions: We have identified associations among LTF polymorphisms, circulating lactoferrin concentration, fasting triglyceride concentration, and vascular reactivity in humans.
Hyperinsulinism in Infancy and Childhood: When an Insulin Level Is Not Always Enough
Authors: Palladino Andrew A , Bennett Michael J , Stanley Charles A 
Published: December 2007

AbstractBackground: Hypoglycemia in infants and children can lead to seizures, developmental delay, and permanent brain damage. Hyperinsulinism (HI) is the most common cause of both transient and permanent disorders of hypoglycemia. HI is characterized by dysregulated insulin secretion, which results in persistent mild to severe hypoglycemia. The various forms of HI represent a group of clinically, genetically, and morphologically heterogeneous disorders.Content: Congenital hyperinsulinism is associated with mutations of SUR-1 and Kir6.2, glucokinase, glutamate dehydrogenase, short-chain 3-hydroxyacyl-CoA dehydrogenase, and ectopic expression on β-cell plasma membrane of SLC16A1. Hyperinsulinism can be associated with perinatal stress such as birth asphyxia, maternal toxemia, prematurity, or intrauterine growth retardation, resulting in prolonged neonatal hypoglycemia. Mimickers of hyperinsulinism include neonatal panhypopituitarism, drug-induced hypoglycemia, insulinoma, antiinsulin and insulin-receptor stimulating antibodies, Beckwith-Wiedemann Syndrome, and congenital disorders of glycosylation. Laboratory testing for hyperinsulinism may include quantification of blood glucose, plasma insulin, plasma β-hydroxybutyrate, plasma fatty acids, plasma ammonia, plasma acylcarnitine profile, and urine organic acids. Genetic testing is available through commercial laboratories for genes known to be associated with hyperinsulinism. Acute insulin response (AIR) tests are useful in phenotypic characterization. Imaging and histologic tools are also available for diagnosing and classifying hyperinsulinism. The goal of treatment in infants with hyperinsulinism is to prevent brain damage from hypoglycemia by maintaining plasma glucose levels above 700 mg/L (70 mg/dL) through pharmacologic or surgical therapy.Summary: The management of hyperinsulinism requires a multidisciplinary approach that includes pediatric endocrinologists, radiologists, surgeons, and pathologists who are trained in diagnosing, identifying, and treating hyperinsulinism.
Prospective Study of High-Sensitivity C-Reactive Protein as a Determinant of Mortality: Results from the MONICA/KORA Augsburg Cohort Study, 1984–1998
Authors: Koenig Wolfgang , Khuseyinova Natalie , Baumert Jens , Meisinger Christa 
Published: December 2007

Abstract
Background: C-reactive protein (CRP), an exquisitely sensitive systemic marker of inflammation, has emerged as an independent predictor of cardiovascular diseases (CVD). Because other chronic diseases are also associated with an inflammatory response, we sought to assess the association of high-sensitivity CRP (hsCRP) with total and cause-specific mortality in a large cohort of middle-aged men.
Methods: We measured hsCRP at baseline in 3620 middle-aged men, randomly drawn from 3 samples of the general population in the Augsburg area (Southern 0Germany) in 1984–85, 1989–90, and 1994–95. Outcome was defined as all deaths, fatal CVD, fatal coronary heart disease (CHD) including sudden cardiac deaths, and cancer deaths.
Results: During an average follow-up of 7.1 years, 408 deaths occurred (CVD 196, CHD 129, cancer 127). In multivariable Cox regression analysis, subjects with hsCRP &gt;3 mg/L at baseline showed an almost 2-fold increased risk to die vs those with hsCRP &lt;1 mg/L [hazard ratio (HR) 1.88, 95% CI 1.41–2.52]. HRs were 2.15 (95% CI 1.39–3.34) for fatal CVD, 1.74 (1.04–2.92) for fatal CHD, and 1.65 (1.01–2.68) for cancer mortality. In contrast, neither total nor HDL cholesterol significantly predicted all-cause or cancer mortality, and cholesterol had only modest effects on CVD mortality.
Conclusions: Our results suggest that increased circulating hsCRP concentrations are associated with an increased risk of death from several widespread chronic diseases. Persistently increased hsCRP is a sensitive and valuable nonspecific indicator of an ongoing disease process that deserves serious and careful medical attention.
PREDICTION OF NEURODEVELOPMENTAL OUTCOME AFTER PERINATAL ASPHYXIA VIA TRANSCRANIAL CEREBRAL ARTERY DOPPLER ULTRASONOGRAPHY
Authors: Lin Haung-Chi , Shue Teng-Chi 
Published: January 2008

INTRODUCTION: Perinatal asphyxia is the most common cause of neurologic injury to the neonate and may lead to significant morbidity and mortality. Cerebral artery Doppler ultrasonography has been used for prediction of outcome after perinatal asphyxia in recent decades.
OBJECTIVE: We investigated whether cerebral artery Doppler ultrasonography is 1 of earliest markers of neurodevelopmental outcome.
METHODS: Cerebral artery Doppler ultrasonography was performed serially via temporal window during the first week of life in 24 asphyxiated neonates in our NICU from 1999 to 2007. The resistive indexes (RI) and blood flow velocities in the cerebral arteries of the circle of Willis were obtained. Neurodevelopmental outcomes were evaluated during follow-up.
RESULTS: Four patterns of cerebral artery Doppler ultrasonography were identified: pattern 1, normal RI with normal cerebral blood flow (6 neonates); pattern 2, normal RI with high cerebral blood flow (4 neonates); pattern 3, high RI after 48 hours of life (8 neonates); and pattern 4, low RI with high cerebral blood flow (6 neonates). Patterns 3 and 4 demonstrated grave prognosis, with severe cerebral palsy or mortality reported in more than 3 of 4 of neonates with either pattern, whereas all neonates with pattern 1 had favorable outcomes, free of delayed development or neurologic sequelae.
CONCLUSIONS: Cerebral artery Doppler ultrasonography is an early useful tool for predicting neurodevelopmental outcome after perinatal asphyxia. The outcomes turned out to be grave once abnormal RIs were detected, either low or high, indicating severe neurologic damage after asphyxia.
Radiographic, scintigraphic and magnetic resonance imaging findings in the palmar processes of the distal phalanx
Authors: NAGY A. , DYSON S. J. , MURRAY R. M. 
Published: December 2007

Summary Reasons for performing study: Increased radiopharmaceutical uptake (IRU) in the palmar processes of the distal phalanx is recognised but its clinical significance has not been established. Objectives: To investigate the relationship between radiographic, scintigraphic and MRI findings in the palmar processes of the distal phalanx. Hypotheses: Increased radiopharmaceutical uptake in the palmar processes of the distal phalanx is associated with MRI abnormalities; IRU and MRI abnormalities are over‐represented in lame limbs. Methods: Clinical data, radiographic, scintigraphic and MRI findings of 258 horses with unilateral or bilateral foot pain were recorded. Scintigraphic images were assessed subjectively and using region of interest and profile analysis, and intensity of IRU graded. Alteration in signal intensity in T1 and T2 weighted and short tau inversion recovery (STIR) MR images was documented, and MRI abnormalities graded. Relationships between scintigraphic, MRI, radiographic and clinical findings were assessed. Results: Focal IRU was over‐represented in palmar processes with most MRI abnormalities. There was a significant correlation between IRU and MRI grades and IRU was over‐represented in palmar processes with MRI Grades 2 and 3. Both IRU and MRI abnormalities occurred most frequently in the medial palmar process. MRI abnormalities were generally over‐represented in lame limbs. The most common MRI abnormality was mild diffuse decreased signal intensity in T1 and T2 weighted images, which was associated with mild generalised IRU. Conclusions: There was considerable variation in the radiographic, scintigraphic and MRI appearance of palmar processes of the distal phalanx. Focal IRU in a palmar process was seen in association with MRI abnormalities and lameness or as an incidental finding. Magnetic resonance imaging abnormalities occurred more frequently in lame limbs, either contributing to lameness or as a consequence of lameness. Potential relevance: Further investigation is needed to establish the clinical significance of MRI abnormalities in the palmar processes of the distal phalanx and their relationship with lesions in adjacent structures.
Liposome‐mediated uptake of exogenous DNA by equine spermatozoa and applications in sperm‐mediated gene transfer
Authors: BALL B. A. , SABEUR K. , ALLEN W. R. 
Published: December 2007

Summary Reasons for performing study: Sperm‐mediated gene transfer has been reported as a method for production of transgenic animals in a variety of species, and this technique represents a possible method for production of transgenic equids. Objectives: To evaluate the uptake of exogenous DNA (enhanced green fluorescent protein; pEGFP) by equine spermatozoa and to assess the ability of transfected spermatozoa to introduce this transgene into early equine embryos. Methods: To evaluate incorporation of pEGFP into equine spermatozoa, washed spermatozoa were incubated with 32P‐pEGFP, with or without lipofection. Spermatozoa were also transfected with fluorescently‐labelled DNA (Alexa647‐pEGFP) and changes in sperm viability and DNA uptake were assessed. Mares were inseminated with pEGFP‐transfected spermatozoa and embryos recovered. Expression of pEGFP was assessed by epifluorescence microscopy of embryos, and the presence of pEGFP DNA and mRNA was assessed by PCR and RT‐PCR, respectively. Results: Liposome‐mediated transfection increased the incorporation of 32P‐pEGFP into spermatozoa compared to controls. Flow cytometric evaluation of spermatozoa after transfection with Alexa647‐pEGFP revealed a linear increase in the proportion of live, Alexa647+ spermatozoa with increasing DNA concentrations. After insemination with transfected spermatozoa, 8 embryos were recovered. There was no evidence of EGFP expression in the recovered embryos; however, PCR analysis revealed evidence of the pEGFP transgene in 2 of 5 embryos analysed. Conclusions: The incorporation of exogenous DNA by equine spermatozoa was enhanced by liposome‐mediated transfection and this did not adversely affect sperm viability, acrosomal integrity or fertility. Although the EGFP transgene was detected in a proportion of Day 7–10 embryos, there was no evidence of expression of EGFP in these embryos. Potential relevance: Sperm‐mediated gene transfer offers a potential technique for the generation of transgenic equids.
Plasma aldosterone, vasopressin and atrial natriuretic peptide in hypovolaemia: A preliminary comparative study of neonatal and mature horses
Authors: HOLLIS A. R. , BOSTON R. C. , CORLEY K. T. T. 
Published: December 2007

SummaryReasons for performing study: Neonatal foals succumb rapidly to hypovolaemic shock in comparison to mature horses; they do not consistently increase their heart rate in response to hypotension and respond differently to fluid administration. The hormonal responses to hypovolaemia in the horse and foal require investigation.Hypothesis: The hormonal responses to hypovolaemia and fluid administration differ between mature and neonatal horses.Methods: Five mature horses and 5 neonatal foals fulfilling predetermined criteria for hypovolaemia, were included in the study. A blood sample was taken at admission and after normalisation of fluid balance. These were analysed for plasma aldosterone, vasopressin (AVP) and atrial natriuretic peptide (ANP). Normally distributed variables were compared using the Student'sttest and nonparametric data using the Mann‐Whitney U test.Results: ANP, AVP and aldosterone were higher before fluid resuscitation than after fluid resuscitation in mature horses. Aldosterone was higher before than after fluid resuscitation in foals, and was higher in foals both before and after fluid resuscitation than in mature horses. ANP was lower in mature horses after fluid resuscitation than in foals. No other comparisons were significantly different.Conclusions: The hormonal responses of the mature and neonatal horses are different during hypovolaemia and following fluid resuscitation.Potential relevance: The differences in the hormonal responses to hypovolaemia and fluid resuscitation may be important when considering fluid resuscitation of hypovolaemic horses and foals, and warrants further investigation.
The effect of omeprazole paste on intragastric pH in clinically ill neonatal foals
Authors: JAVSICAS L. H. , SANCHEZ L. C. 
Published: December 2007

SummaryReasons for performing the study: Administration of omeprazole pasteper osto healthy neonatal foals has been shown to effectively increase intragastric pH, but has not been evaluated in sick neonatal foals.Objectives: To determine the effect of orally administered omeprazole paste on intragastric pH in clinically ill neonatal foals requiring nasogastric intubation.Methods: Intragastric pH was measured continuously for 24 h using an indwelling electrode and continuous data recording system in hospitalised neonatal foals age ≤2 days. Intragastric pH was measured for 12 h prior to (pretreatment period) and 12 h following (post treatment period) treatment with omeprazole paste (4 mg/kg bwtper os). All foals displayed periods of acidity (pH <4) prior to treatment. Statistical analysis compared pre‐ and post treatment mean and median intragastric pH, and percentage of time below pH 4.Results: Eight foals were evaluated age 1–3 days, a gestational age of at least 320 days or reported to be full term. The mean (3.19 ± 1.50 vs. 6.20 ± 0.93) and median (4.6 ± 1.7 vs. 6.86 ± 0.89) pH were significantly higher and the percentage of time below pH 4 (32.25 vs. 1.1%) was significantly lower in the post treatment compared to the pretreatment period.Conclusion: Omeprazole paste effectively increases intragastric pH in clinically ill neonatal foals after one dose at 4 mg/kg bwt orally.