bluuebunny/crossref_metadata_2025_split huggingface dataset:
Treatment questions in POTS with hypertension and syncope
Authors: Lelonek Malgorzata , Goch Jan 
Published: April 2008

Abstract
A 27-year old man experienced recurrent syncope with prodromal palpitations and resultant injury. The features of these episodes suggested a potentially neurally-mediated mechanism. Head-up tilt test revealed the postural orthostatic tachycardia syndrome (POTS). Within the first minutes of upright posture during the total head-up tilt testing, a heart rate increase of >30 beats/min and to a maximum of 150 beats/min was documented in the patient. At the end of passive tilting, the patient lost consciousness in the absence of hypotension while in sinus rhythm of 140 bpm. The 12-lead ECG and electrophysiological study showed no abnormalities. The patient received a beta-adrenergic blocker, a selective central imidazoline receptor agonist and psychiatric therapy, resulting in only a short-term improvement.
Influence of the wars in Croatia and Bosnia and Herzegovina on the incidence and outcome of singleton premature births in the Split University Hospital
Authors: Pavlinac Ivana , Marin Ana , Valić Maja , Marušić Jelena , Roje Damir , Pecotić Renata , Tadin Ivica , Ðogaš Zoran 
Published: April 2008

AbstractTo investigate the influence of the wars in Croatia and Bosnia and Herzegovina on incidence and perinatal outcome of singleton preterm births at the Department of Gynecology and Obstetrics in the Split University Hospital. Data were collected by reviewing patients’ files at the Department of Gynecology and Obstetrics from three periods: the three years before the war (1988–1990), during the war (1992–1994), and after the war (1996–1998). A total of 2,358 patients’ files of singleton preterm delivery were analyzed. Singleton preterm delivery rate decreased during the war (5.02%) and post-war period (4.74%) compared to the pre-war period (6.19%). Stillbirth and early neonatal mortality rates of singleton premature babies significantly increased during the war to 226%, compared to 193% before the war and 134% after the war. Early neonatal mortality rate was 215% during the war, 209% in the pre-war period, and 156% after the war. Despite the continuous decrease in singleton preterm birth rate throughout the observed periods, the increase in stillbirth rate and early neonatal mortality rate during the war might have been caused by the war. This may be due to primary gynecological care being inadequate for many pregnant women.
Kinetic models for stochastically modified ionic channels
Authors: Wozinski Aleksander , Iwaniszewski Jan 
Published: April 2008

AbstractIonic channels form pores in biomembranes. These pores are large macromolecular structures. Due to thermal fluctuations of countless degrees-of-freedom of the biomembrane material, the actual form of the pores is permanently subject to modification. Furthermore, the arrival of an ion at the binding site can change this form by repolarizing the surrounding aminoacids. In any case the variations of the pore structure are stochastic. In this paper, we discuss the effect of such modifications on the channel conductivity. Applying a simple kinetic description, we show that stochastic variations in channel properties can significantly alter the ionic current, even leading to its substantial increase or decrease for the specific matching of some time-scales of the system.
Binge drinking and violence against intimate partners in Russia
Authors: Lysova Aleksandra V. , Hines Denise A. 
Published: April 2008

AbstractThis study is the first to provide information on the association between intimate partner violence (IPV) and binge drinking among Russian university students. Using data from 500 (58% female) university students from the four Russian sites of the International Dating Violence Study, we found gender differences in rates of IPV perpetration and in the association between binge drinking and IPV. Specifically, more females than males perpetrated IPV, and the associations between binge drinking and IPV were stronger for the female students than for the male students. In addition, antisocial traits and behavior (ATSB) were significantly related to both binge drinking and IPV perpetration for males and females. For males, the relatively weak associations between binge drinking and IPV perpetration disappeared once ASTB was accounted for. For females, the relationship decreased but remained significant when ATSB was statistically controlled. Path analyses confirmed that this pattern of relationships would be consistent with ATSB serving as a partial mediator between binge drinking and IPV perpetration. However, other alternative mediation and moderation models for the relationships between binge drinking, IPV perpetration, and ATSB could not be ruled out with this one‐wave correlational study. Aggr. Behav. 34:416–427, 2008. © 2008 Wiley‐Liss, Inc.
Unrelated chromosomal anomalies found in patients with suspected 22q11.2 deletion
Authors: Fernández Luis , Lapunzina Pablo , López Pajares Isidora , Palomares María , Martínez Isabel , Fernández Blanca , Quero José , García‐Guereta Luis , García‐Alix Alfredo , Burgueros Margarita , Galán‐Gómez Enrique , Carbonell‐Pérez José María , Pérez‐Granero Ángeles , Torres‐Juan Laura , Heine‐Suñer Damià , Rosell Jordi , Delicado Alicia 
Published: April 2008

AbstractScreening for 22q11.2 deletions has not an easy approach due to the wide variability of their associated phenotype. Many clinical features overlap with those of other known syndromes and reported loci. Patients referred to exclude a 22q11.2 deletion are usually tested with a locus‐specific FISH probe, with 10% positive cases depending on the selection criteria, but patients testing negative for FISH at 22q11.2 may have other chromosomal aberrations in routine cytogenetic analysis. We tested 819 patients suspected of having a 22q11.2 deletion. Eighty‐eight patients (10.7%) were positive for 22q11.2 deletion, whereas 30 patients (3.7%) showed other chromosomal abnormalities involving deletions and duplications, derivative chromosomes, marker chromosomes, apparently balanced and unbalanced translocations and sex chromosome aneuploidies. Of these alterations, 28 did not involve region 22q11 and most had not been associated with 22q11.2 deletion phenotype before. We discuss the similarity of DiGeorge/velocardiofacial syndrome with other known clinical entities and suggest correlations between the new loci and the observed clinical features. The frequency of unrelated chromosomal anomalies reported in this study and in other previous reports highlights the importance of conventional cytogenetic analysis as an initial genome‐wide screening tool in all referred patients, and provides useful data to optimize diagnostic and screening protocols according to the most frequent chromosomal findings. © 2008 Wiley‐Liss, Inc.
A new candidate locus for bilateral perisylvian polymicrogyria mapped on chromosome Xq27
Authors: Santos Neide F. , Secolin Rodrigo , Brandão‐Almeida Iara L. , Silva Marilza S. , Torres Fábio R. , Tsuneda Simone S. , Guimarães Catarina A. , Hage Simone R.V. , Cendes Fernando , Guerreiro Marilisa M. , Lopes‐Cendes Iscia 
Published: April 2008

AbstractPolymicrogyria (PMG) is characterized by an excessive number of small and prominent brain gyri, separated by shallow sulci. Bilateral perisylvian polymicrogyria (BPP) is the most common form of PMG. Clinical signs include pseudobulbar paresis, mental retardation, and epilepsy. Familial forms of BPP have been described and a candidate locus was previously mapped to chromosome Xq28, distal do marker DXS8103. The objective of this study was to perform linkage analysis in one family segregating BPP. A total of 15 individuals, including 8 affected patients with BPP were evaluated. Family members were examined by a neurologist and subjected to magnetic resonance imaging scans. Individuals were genotyped for 18 microsatellite markers, flanking a 42.3 cM interval on ch Xq27‐q28. Two‐point and multipoint linkage analysis was performed using the LINKAGE package and haplotype reconstruction was performed by GENEHUNTER software. Our results showed a wide spectrum of clinical manifestations in affected individuals with BPP, ranging from normal to mild neurological abnormalities. Two‐point linkage analysis yield a Zmax = 2.06 at θ = 0.00 for markers DXS1205 and DXS1227. Multipoint lod‐scores indicate a candidate interval of 13 cM between markers DSXS1205 and DXS8043, on ch Xq27.2‐Xq27.3. These results point to a new locus for BPP in a more centromeric location than previously reported. © 2008 Wiley‐Liss, Inc.
Association study of candidate variants of COMT with neuroticism, anxiety and depression
Authors: Wray Naomi R. , James Michael R. , Dumenil Troy , Handoko Herlina Y. , Lind Penelope A. , Montgomery Grant W. , Martin Nicholas G. 
Published: April 2008

AbstractThe Val158Met polymorphism of the gene encoding catechol‐O‐methyltransferase (COMT) is one of the most widely tested variants for association with psychiatric disorders, but replication has been inconsistent including both sex limitation and heterogeneity of the associated allele. In this study we investigate the association between three SNPs from COMT and anxiety and depression disorders and neuroticism all measured within the same study sample. Participants were selected as sibling pairs (or multiples) that were either concordant or discordant for extreme neuroticism scores from a total sample of 18,742 Australian twin individuals and their siblings. All participants completed the Composite International Diagnostic Interview (CIDI) from which diagnoses of DSM‐IV depression and anxiety disorders were determined. Of the participants, 674 had a diagnosis of anxiety and/or depression from 492 families. Study participants (n = 2,045 from 987 families) plus, where possible, their parents were genotyped for rs737865, rs4680 (Val158Met), and rs165599. Using family based tests we looked for association between these variants and neuroticism, depression, anxiety, panic disorder and agarophobia (PDAG) and obsessive compulsive disorder. We found no convincing evidence for association either in allelic or genotypic tests for the total sample or when the sample was stratified by sex. Haplotype T‐G‐G showed weak association (P = 0.042) with PDAG before correction for multiple testing; association between this haplotype and schizophrenia has been previously reported in an Australian sample. © 2008 Wiley‐Liss, Inc.
Combined effects of exonic polymorphisms in CRHR1 and AVPR1B genes in a case/control study for panic disorder
Authors: Keck Martin E. , Kern Nikola , Erhardt Angelika , Unschuld Paul G. , Ising Marcus , Salyakina Daria , Müller Marianne B. , Knorr Carolin C. , Lieb Roselind , Hohoff Christa , Krakowitzky Petra , Maier Wolfgang , Bandelow Borwin , Fritze Jürgen , Deckert Jürgen , Holsboer Florian , Müller‐Myhsok Bertram , Binder Elisabeth B. 
Published: April 2008

AbstractAccumulating evidence from animal studies suggests that the corticotropin releasing hormone (CRH) and arginine vasopressin (AVP) neuropeptide systems, contribute to anxiety behavior. To investigate whether polymorphisms in the genes regulating these two systems may alter susceptibility to anxiety disorders in humans, we genotyped 71 single nucleotide polymorphisms (SNPs) in CRH, CRHR1, CRHR2, AVP, AVPR1A, AVPR1B in a German sample from Munich with patients suffering from panic disorder and matched healthy controls (n = 186/n = 299). Significant associations were then replicated in a second German sample with 173 patients with panic disorder and 495 controls. In both samples separately and the combined sample, SNPs within CHRH1 and AVPR1B were nominally associated with panic disorder. We then tested two locus multiplicative and interaction effects of polymorphisms of these two genes on panic disorder. Fifteen SNP pairs showed significant multiplicative effects in both samples. The SNP pair with the most significant association in the combined sample (P = 0.00057), which withstood correction for multiple testing, was rs878886 in CRHR1 and rs28632197 in AVPR1B. Both SNPs are of potential functional relevance as rs878886 is located in the 3′ untranslated region of the CRHR1 and rs28632197 leads to an arginine to histidine amino acid exchange at position 364 of AVPR1B which is located in the intracellular C‐terminal domain of the receptor. These data suggest that polymorphisms in the AVPR1B and the CRHR1 genes alter the susceptibility to panic disorder. © 2008 Wiley‐Liss, Inc.
Social support in older individuals: The role of the BDNF Val66Met polymorphism
Authors: Taylor Warren D. , Züchner Stephan , McQuoid Douglas R. , Steffens David C. , Blazer Dan G. , Krishnan K. Ranga R. 
Published: April 2008

AbstractAlthough often viewed as a purely environmental construct, perception of social support may be influenced by genetic factors. This study examined the relationship between the brain‐derived neurotrophic factor (BDNF) Val66Met polymorphism and social support measures in older subjects. The sample consisted of 243 depressed and 115 nondepressed older subjects, age 60 years or older; 233 were Val66 allele homozygotes, while 125 were Met66 allele carriers. All subjects completed clinical assessments, including a self‐report questionnaire assessing four social support domains, and provided blood for genotyping. Statistical models examined the relationship between scale scores of social support and BDNF Val66Met genotype, while controlling for presence or absence of major depressive disorder and other demographic factors significantly associated with social support. As social support measures were not normally distributed, log‐transformed scores were examined. After controlling for diagnosis and education level, the Met66 allele was associated with lower levels of subjective social support (F1,357 = 5.33, P = 0.0216) and a trend for fewer social interactions (F1,357 = 3.66, P = 0.0567). To our knowledge, this is the first report associating a measure of social support with a genetic polymorphism. This supports previous work that genetic factors may influence social support perception. Further work is needed to determine the generalizability of this finding to the broader population, as well as its significance for clinical outcomes. © 2008 Wiley‐Liss, Inc.
A de novo apparently balanced translocation [46,XY,t(2;9)(p13;p24)] interrupting RAB11FIP5 identifies a potential candidate gene for autism spectrum disorder
Authors: Roohi Jasmin , Tegay David H. , Pomeroy John C. , Burkett Sandra , Stone Gary , Stanyon Roscoe , Hatchwell Eli 
Published: April 2008

AbstractAutism spectrum disorder (ASD) is a severe developmental disorder of the central nervous system characterized by impairments in social interaction, communication, and range of interests and behaviors. The syndrome's prevalence is estimated to be as high as 1 in 150 American children yet its etiology remains largely unknown. Examination of observed cytogenetic variants in individuals with ASD may identify genes involved in its pathogenesis. As part of a multidisciplinary study, an apparently balanced de novo translocation between chromosomes 2 and 9 [46,XY,t(2;9)(p13;p24)] was identified in a subject with pervasive developmental disorder not otherwise specified (PDD‐NOS), and no distinctive dysmorphic features. Molecular characterization of the rearrangement revealed direct interruption of the RAB11 family interacting protein 5 (RAB11FIP5) gene. RAB11FIP5 is a Rab effector involved in protein trafficking from apical recycling endosomes to the apical plasma membrane. It is ubiquitously expressed and reported to contribute to both neurotransmitter release and neurotransmitter uptake at the synaptic junction. Detailed analysis of the rearrangement breakpoints suggests that the reciprocal translocation may have formed secondary to incorrect repair of double strand breaks (DSBs) by nonhomologous end‐joining (NHEJ). © 2008 Wiley‐Liss, Inc.
Enzymatic ring‐opening polymerization of ε‐caprolactone by a new lipase from Yarrowia lipolytica
Authors: Barrera‐Rivera Karla A. , Flores‐Carreón Arturo , Martínez‐Richa Antonio 
Published: April 2008

AbstractA new lipase from the yeast Yarrowia lipolytica was isolated and used in the enzymatic ring‐opening polymerization of lactones. The effect of used commercial oil from a vacuum pump (instead of olive oil) and in the presence of wheat flour was evaluated. It was found that lipase production is favored when wheat flour and used commercial oil is added instead of olive oil with an incubation time of 16.5 h at 29°C and 250 rpm. Lipase shows a specific activity of 3.47 nmoles of 4‐methyl umbelliferone released/mg of protein/min. In this way, preculture step can be avoided and an important reduction in production time can be obtained. In vitro polymerization of ε‐caprolactone at different temperatures in the presence of n‐heptane for 15 days produces low‐molecular‐weight polyesters with unique multiphase morphology. Polyesters were characterized by NMR (solution and solid‐state) spectroscopy, differential scanning calorimetry (DSC), Fourier‐transformed infrared, wide‐angle X‐ray scattering and MALDI‐TOF. Polyester crystallinities calculated by DSC were high, as expected for low‐molecular‐weight PCLs. Final polymer possesses carboxylic acid and hydroxyl end‐groups, as determined by 1H‐ and 13C NMR analysis. © 2008 Wiley Periodicals, Inc. J Appl Polym Sci 2008
Tracking anthropogenic‐ and climatic‐related environmental changes in the remaining habitat lakes of the endangered Atlantic whitefish (Coregonus huntsmani) using palaeolimnological techniques
Authors: Ginn Brian K. , Grace Laura C. , Cumming Brian F. , Smol John P. 
Published: April 2008

AbstractAtlantic whitefish (Coregonus huntsmani) is a critically endangered species whose remaining habitat is restricted to three lakes near Bridgewater, Nova Scotia, Canada. Other lakes in this region have been affected by a variety of environmental changes over the past 150 years (e.g. acidic deposition, eutrophication, and climatic changes); however, the extent of the impact on these remaining Atlantic whitefish lakes, and how the current limnological conditions compare with pre‐industrial conditions, is not known.Given the lack of long‐term monitoring data, palaeolimnological techniques were used to track environmental changes in these three lakes to infer historic limnological conditions.Results of this study show that acidic deposition has had no significant impact on these lakes (diatom‐inferred lakewater pH has changed little over time), nor has the nutrient status of these lakes changed as the sediment profiles have been consistently dominated by oligotrophic diatom taxa.Changes in the dominance of diatom assemblages since ∼1850, fromAulacoseira distanstoCyclotella stelligera, are correlated with climatic warming (r = 0.48–0.89,P<0.05).Contrary to initial concerns, these only remaining habitats of the Atlantic whitefish have not yet been affected by acidic precipitation. However, other potential stressors, such as climatic warming and associated limnological changes, may now be affecting the habitat of this endangered species.Copyright © 2008 John Wiley & Sons, Ltd.
Regarding Several Points of Doubt of the Structure of the Olfactory Bulb: As Described by T. Blanes
Authors: Levine Catherine , Marcillo Alexander 
Published: April 2008

AbstractIn order to complement the studies on the fila olfactoria completed by Dr. Santiago Ramón y Cajal, we have included a translation of “Sobre Algunos Puntos Dudosos de la Estructura del Bulbo Olfatorio” by T. Blanes, a student of Dr. Cajal. This work describes in stunning detail additional morphological aspects of the olfactory pathway, including what was at the time the modestly studied neuroglia. The neuroglia of the olfactory system has been revisited in the last several decades for its importance in the field of regenerative neuroscience. Olfactory ensheathing glia has the unique quality of providing ensheathment to neurons which traverse from the central to the peripheral nervous system and are being used as a candidate in present‐day transplantation studies to mimic this phenomenon at the dorsal root entry zone after a central nervous system injury. Although this fine work has passed its centennial anniversary since initial publication, it has been widely cited throughout the years, and of recent when Pressler and Stowbridge reported Blanes cell electrophysiological recordings (Neuron V 49, 6; p 889–904, 2006). An English translation the details of what Blanes initially documented with unduplicated precision can now be made available to a wider audience in the field of neuroscience, and is especially important now that more and more present‐day studies require a precise and complete understanding of the anatomical structures contained within the olfactory system. Anat Rec, 291:751‐762, 2008. © 2008 Wiley‐Liss, Inc.
Van der Waals and Polar Intermolecular Contact Distances: Quantifying Supramolecular Synthons
Authors: Ganguly Parthasarathy , Desiraju Gautam R. 
Published: April 2008

AbstractCrystal structures are viewed as being determined by ranges and constraints on interatomic contact distances between neighboring molecules. These distances are considered to arise from environment‐dependent atomic sizes, that is, larger sizes for isotropic, van der Waals type contacts and smaller sizes for more‐polar, possibly ionic contacts. Although the idea of different, or anisotropic, radii for atoms is not new, we developed a method of obtaining atomic sizes that is based on a theoretical framework. Using different atomic sizes for the same atom in different environments, we were able to rationalize some structural observations and anomalies. For example, benzene with the Pbca structure may be described in terms of two types of C⋅⋅⋅H interactions: a longer contact largely of the van der Waals type, and a shorter, structure‐determining type (Cδ−⋅⋅⋅Hδ+), which we term “n‐polar”. Our approach is illustrated with three examples: 1) the equivalence in crystal packing of fluorobenzene, benzonitrile, pyridine N‐oxide, and pyridine/HF 1:1 molecular complex, all of which take the not‐so‐common tetragonal P41212 space group and are practically isomorphous; 2) the similarity of the Pa3 acetylene and Pbca benzene crystal structures; and 3) the equivalence between an increase in pressure and an increase in the “n‐polar” contacts in Pbca benzene; in other words, the equivalence between hydrostatic pressure and chemical pressure. In the context of crystal engineering, we describe a method whereby the topological information conveyed in a supramolecular synthon is recast in a more quantitative manner. A particular synthon, and in turn the crystal structure to which it leads, is viable within small ranges of distances of its constituent atoms, and these distances are determined by chemical factors.