bluuebunny/crossref_metadata_2025_split huggingface dataset:
Simultaneous analysis of the behavioural phenotype, physical factors, and parenting stress in people with Cornelia de Lange syndrome
Authors: Wulffaert J. , van Berckelaer‐Onnes I. , Kroonenberg P. , Scholte E. , Bhuiyan Z. , Hennekam R. 
Published: June 2009

AbstractBackground Studies into the phenotype of rare genetic syndromes largely rely on bivariate analysis. The aim of this study was to describe the phenotype of Cornelia de Lange syndrome (CdLS) in depth by examining a large number of variables with varying measurement levels. Virtually the only suitable multivariate technique for this is categorical principal component analysis. The characteristics of the CdLS phenotype measured were also analysed in relation to parenting stress.Method Data for 37 children and adults with CdLS were collected. The type of gene mutation and relevant medical characteristics were measured. Information on adaptive functioning, behavioural problems, the presence of the autistic disorder and parenting stress were obtained through questionnaires and semi‐structured interviews with the parents. Chronological age and gender were also included in the analysis.Results All characteristics measured, except gender, were highly interrelated and there was much variability in the CdLS phenotype. Parents perceived more stress when their children were older, were lower functioning, had more behavioural problems, and if the autistic disorder was present. A new perspective was acquired on the relation between the gene mutation type and medical and behavioural characteristics. In contrast with earlier research the severity of medical characteristics did not appear a strong prognostic factor for the level of development.Conclusion Categorical principal component analysis proved particularly valuable for the description of this small group of participants given the large number of variables with different measurement levels. The success of the technique in the present study suggests that a similar approach to the characterisation of other rare genetic syndromes could prove extremely valuable. Given the high variability and interrelatedness of characteristics in CdLS persons, parents should be informed about this differentiated perspective.
Cardioprotection with beta‐blockers: myths, facts and Pascal’s wager
Authors: Messerli F. H. , Bangalore S. , Yao S. S. , Steinberg J. S. 
Published: June 2009

Abstract.Beta‐blockers were documented to reduce reinfarction rate more than 3 decades ago and subsequently touted as being cardioprotective for a broad spectrum of cardiovascular indications such as hypertension, diabetes, angina, atrial fibrillation as well as perioperatively in patients undergoing surgery. However, despite lowering blood pressure, beta‐blockers have never shown to reduce morbidity and mortality in uncomplicated hypertension. Also, beta‐blockers do not prevent heart failure in hypertension any better than any other antihypertensive drug class. Beta‐blockers have been shown to increase the risk on new onset diabetes. When compared with nondiuretic antihypertensive drugs, beta‐blockers increase all‐cause mortality by 8% and stroke by 30% in patients with new onset diabetes. Beta‐blockers are useful for rate control in patients with chronic atrial fibrillation but do not help restore sinus rhythm or have antifibrillatory effects in the atria. Beta‐blockers provide symptomatic relief in patients with chronic stable angina but do not reduce the risk of myocardial infarction. Adverse effects of beta‐blockers are common including fatigue, dizziness, depression and sexual dysfunction. However, beta‐blockers remain a cornerstone in the management of patients having suffered a myocardial infarction and for patients with heart failure. Thus, recent evidence argues against universal cardioprotective properties of beta‐blockers but attest to their usefulness for specific cardiovascular indications.
Circulating high molecular weight adiponectin isoform is heritable and shares a common genetic background with insulin resistance in nondiabetic White Caucasians from Italy: evidence from a family‐based study
Authors: Menzaghi C. , Salvemini L. , Paroni G. , De Bonis C. , Mangiacotti D. , Fini G. , Doria A. , Di Paola R. , Trischitta V. 
Published: June 2009

Abstract.  Menzaghi C, Salvemini L, Paroni G, De Bonis C, Mangiacotti D, Fini G, Doria A, Di Paola R, Trischitta V (IRCCS “Casa Sollievo della Sofferenza”, San Giovanni Rotondo (FG), Italy, Joslin Diabetes Center and Harvard Medical School, Boston, MA, USA, “Sapienza” University; IRCCS Casa Sollievo della Sofferenza‐Mendel Institute, Rome, Italy). Circulating HMW adiponectin isoform is heritable and shares a common genetic background with insulin resistance in nondiabetic White Caucasians from Italy: evidence from a family‐based study. J Intern Med 2010; 267: 287–294.Objective.  Reduced circulating adiponectin levels contribute to the aetiology of insulin resistance. Adiponectin circulates in three different isoforms: high molecular weight (HMW), medium molecular weight (MMW) and low molecular weight (LMW) isoforms. The genetics of adiponectin isoforms is mostly unknown. Our aim was to investigate whether and to which extent circulating adiponectin isoforms are heritable and whether they share common genetic backgrounds with insulin resistance‐related traits.Methods.  In a family‐based sample of 640 nondiabetic White Caucasians from Italy, serum adiponectin isoforms concentrations were measured by ELISA. Three single nucleotide polymorphisms (SNPs) in the ADIPOQ gene previously reported to affect total adiponectin levels (rs17300539, rs1501299 and rs677395) were genotyped. The heritability of adiponectin isoform levels was assessed by variance component analysis. A linear mixed effects model was used to test the association between SNPs and adiponectin isoforms. Bivariate analyses were conducted to study genetic correlations between adiponectin isoforms levels and other insulin resistance‐related traits.Results.  All isoforms were highly heritable (h2 = 0.60–0.80, P = 1.0 × 10−13–1.0 × 10−23). SNPs rs17300539, rs1501299 and rs6773957 explained a significant proportion of HMW variance (2–9%, P = 1.0 × 10−3–1.0 × 10−5). In a multiple‐SNP model, only rs17300539 and rs1501299 remained associated with HMW adiponectin (P = 3.0 × 10−4 and 2.0 × 10−2). Significant genetic correlations (P = 1.0 × 10−2–1.0 × 10−5) were observed between HMW adiponectin and fasting insulin, homeostasis model assessment of insulin resistance, HDL cholesterol and the metabolic syndrome score. Only rs1501299 partly accounted for these genetic correlations.Conclusion.  Circulating levels of adiponectin isoforms are highly heritable. The genetic control of HMW adiponectin is shared in part with insulin resistance‐related traits and involves, but is not limited to, the ADIPOQ locus.
Consistency of blood pressure and impact on cardiovascular structure over 20 years in young men
Authors: Ridderstråle W. , Saluveer O. , Johansson M. C. , Bergbrant A. , Jern S. , Hrafnkelsdóttir T. J. 
Published: June 2009

Abstract.  Ridderstråle W, Saluveer O, Johansson MC, Bergbrant A, Jern S, Hrafnkelsdóttir TJ (Sahlgrenska University Hospital Östra, Gothenburg; AstraZeneca, Mölndal, Sweden, Landspítali University Hospital, Reykjavík, Iceland). Consistency of blood pressure and impact on cardiovascular structure over 20 years in young men. J Intern Med 2010; 267: 295–304.Objective.  To identify, in a prospective study, how blood pressure levels at the age of twenty predict hypertension and cardiovascular remodelling 20 years later.Methods.  Twenty‐year‐old men with blood pressure (BP) elevation [systolic blood pressure (SBP) 140–160 and/or diastolic blood pressure (DBP) 85–95 mmHg; blood pressure elevation (BPE) group] or normal BP [SBP 110–130 and DBP 60–80 mmHg; normal controls (NC) group] entered the study in 1987. In 2007, follow‐up was conducted including ambulatory BP, echocardiography, anthropometric and intima media thickness (IMT) measurements.Results.  Assessed with 24‐h ambulatory BP, the prevalence of hypertension was 35/47 (74.5%) and 1/17 (5.9%) in the BPE and NC group at follow‐up respectively. Twenty‐four hour mean arterial pressure (MAP) increased from 86.6 (0.8) to 97.2 (1.2) (P < 0.0001), and from 83.1 (1.5) to 88.1 (1.2) mmHg (P < 0.01) from baseline to follow‐up in the BPE and NC group respectively. At follow‐up, left ventricular mass index (LVMI) was 122 (4) and 106 (4) g m−1 in the BPE and NC group (unpaired t‐test; P < 0.01) respectively, whilst IMT was 0.61 (0.01) and 0.57 (0.01) mm in the BPE and NC group (P < 0.05) respectively. In a logistic regression model, prevalence of hypertension was best explained by office MAP and 24‐h DBP at baseline (R2 0.333; P < 0.05). A combined model of office MAP, body mass index and insulin levels at baseline explained 56% of LVMI at follow‐up.Conclusions.  BP elevation in young age predicts hypertension and adverse cardiovascular remodelling at the age of 40 years. Baseline office MAP is the best predictor of hypertension, 24‐h MAP and LVMI.
Acidianus, Sulfolobus and Metallosphaera surface layers: structure, composition and gene expression
Authors: Veith Andreas , Klingl Andreas , Zolghadr Behnam , Lauber Karin , Mentele Reinhard , Lottspeich Friedrich , Rachel Reinhard , Albers Sonja‐Verena , Kletzin Arnulf 
Published: June 2009

SummaryThe cell walls of Sulfolobales species consist of proteinaceous S‐layers assembled from two polypeptides, SlaA and SlaB. We isolated the large S‐layer protein of Acidianus ambivalens and both S‐layer subunits of Sulfolobus solfataricus and Metallosphaera sedula, respectively. The slaAB genes, lying adjacently in the chromosomes, are constitutively transcribed as bicistronic operons in A. ambivalens and S. solfataricus. A smaller slaA transcript appeared in Northern hybridizations of A. ambivalens RNA. PCRs experiments showed that 80–85% of the transcripts stop at an oligo‐T terminator downstream of slaA while 15–20% are read through to a second terminator downstream of slaB. The bicistronic operons including promoter and terminator regions are conserved in the Sulfolobales. While no SlaA homologue is found outside the Sulfolobales, SlaB is distantly similar to S‐layer proteins of other Crenarchaeota, e.g. the Staphylothermus marinus tetrabrachion. Molecular modelling suggests SlaBs to be composed of 2–3 consecutive beta sandwich domains, a coiled‐coil domain of 15–17 nm in length and a C‐terminal transmembrane helix. Electron microscopy shows crystalline protein arrays with triangular and hexagonal pores. We propose that the mushroom‐shaped ‘unit cells’ of the Sulfolobales' S‐layers consist of three SlaBs anchoring the complex in the membrane and six SlaAs forming the detergent‐resistant outer sacculus.
The impact of children's emotional and behavioural difficulties on their lives and their use of mental health services
Authors: Simpson Gloria A. , Cohen Robin A. , Bloom Barbara , Blumberg Stephen J. 
Published: June 2009

SummaryThis paper examines the relationship between the impact of children's emotional and behavioural difficulties and the use of mental health services, using 3 years of nationally representative data from the National Health Interview Survey. Data for the years 2001, 2003 and 2004 were combined (n = 29 265) to identify a sample of 1423 children aged 4–17 years with emotional/behavioural difficulties. Multivariable logistic regression analysis was used.About 5% of U.S. children had emotional or behavioural difficulties. Children whose difficulty was a burden on their family were almost twice as likely to have contact with a mental health professional. Younger children (aged 4–7 years), Hispanic children and non‐Hispanic black children with emotional or behavioural difficulties were less likely to use mental health services. These findings indicate that children's emotional and behavioural difficulties influence their lives and those of their families, leading parents to seek help. Racial disparities in mental health service use exist when controlling for the severity and the burden of these difficulties.
Phylogeny of the bee family Melittidae (Hymenoptera: Anthophila) based on combined molecular and morphological data
Authors: MICHEZ DENIS , PATINY SÉBASTIEN , DANFORTH BRYAN N. 
Published: June 2009

Abstract.The bee family Melittidae comprises a small, but biologically fascinating, group of mostly oligolectic bees, some of which are oil collecting. Phylogenetic relationships within this family are poorly understood and some genera cannot be placed with confidence at the subfamily level. We analysed melittid phylogeny using a combined dataset of five nuclear genes [28S, elongation factor‐1α (EF‐1α, F2 copy), long‐wavelength rhodopsin, Na‐K ATPase and RNA polymerase II] spanning 4842 bp plus 68 adult morphological characters. Our study included 25% of the species‐level diversity and 81% of the generic‐level diversity and included all previously recognized tribes and subfamilies. We analysed the dataset using parsimony, maximum likelihood and Bayesian methods. All methods yielded congruent results. All topologies recovered the three previously recognized subfamilies (Dasypodainae, Melittinae, Meganomiinae), but two genera (Afrodasypoda and Promelitta) are transferred from Dasypodainae to Melittinae. On the basis of our tree topologies we identify four tribes (Dasypodaini comb.n., Hesperapini stat.n., Macropidini comb.n. and Melittini), only one of which (Melittini) matches a widely used classification. Lastly, we discuss the evolution of host‐plant association in the light of our new phylogenetic hypothesis. Our results strongly support multiple independent origins of oil‐collecting behaviour in the Melittinae.
A short history of HLA
Authors: Thorsby E. 
Published: June 2009

AbstractIn 1958, just a little more than 50 years ago, an alloantigen present on human leucocytes was detected, which was to become the ‘first’ human leucocyte antigen (HLA); HLA‐A2. Since then, we have seen a tremendous development of the HLA field, which has moved from histocompatibility to become one of the most central fields in basic and clinical immunology. This development is briefly reviewed in this article, focusing on some highlights of the history of HLA class I and II molecules and their role in immune responses. It is emphasized that the quick and extensive development of the HLA field is the result not only of excellent individual contributions by outstanding pioneers in the field, but also of an extensive international collaboration, in particular through the many international histocompatibility workshops. Admitting that it is too late to change the name now, it is concluded that instead of calling the HLA complex and similar complexes in other species the major histocompatibility complex, these gene complexes should better have been named the major immune response complex, the MIRC.
The effect of coil phenotypes and genotypes on the fecundity and viability of Partula suturalis and Lymnaea stagnalis: implications for the evolution of sinistral snails
Authors: DAVISON A. , BARTON N. H. , CLARKE B. 
Published: June 2009

AbstractWhy are sinistral snails so rare? Two main hypotheses are that selection acts against the establishment of new coiling morphs, because dextral and sinistral snails have trouble mating, or else a developmental constraint prevents the establishment of sinistrals. We therefore used an isolate of the snail Lymnaea stagnalis, in which sinistrals are rare, and populations of Partula suturalis, in which sinistrals are common, as well as a mathematical model, to understand the circumstances by which new morphs evolve. The main finding is that the sinistral genotype is associated with reduced egg viability in L. stagnalis, but in P. suturalis individuals of sinistral and dextral genotype appear equally fecund, implying a lack of a constraint. As positive frequency‐dependent selection against the rare chiral morph in P. suturalis also operates over a narrow range (< 3%), the results suggest a model for chiral evolution in snails in which weak positive frequency‐dependent selection may be overcome by a negative frequency‐dependent selection, such as reproductive character displacement. In snails, there is not always a developmental constraint. As the direction of cleavage, and thus the directional asymmetry of the entire body, does not generally vary in other Spiralia (annelids, echiurans, vestimentiferans, sipunculids and nemerteans), it remains an open question as to whether this is because of a constraint and/or because most taxa do not have a conspicuous external asymmetry (like a shell) upon which selection can act.
Renoprotective effects of asialoerythropoietin in diabetic mice against ischaemia–reperfusion‐induced acute kidney injury
Authors: NAKAZAWA JUN , ISSHIKI KEIJI , SUGIMOTO TOSHIRO , ARAKI SHIN‐ICHI , KUME SHINJI , YOKOMAKU YUKIYO , CHIN‐KANASAKI MASAMI , SAKAGUCHI MASAYOSHI , KOYA DAISUKE , HANEDA MASAKAZU , KASHIWAGI ATSUNORI , UZU TAKASHI 
Published: June 2009

ABSTRACT:Aim:  Diabetic patients are at higher risk of failure to recover after acute kidney injury, however, the mechanism and therapeutic strategies remain unclear. Erythropoietin is cytoprotective in a variety of non‐haematopoietic cells. The aim of the present study was to clarify the mechanism of diabetes‐related acceleration of renal damage after ischaemia–reperfusion injury and to examine the therapeutic potential of asialoerythropoietin, a non‐haematopoietic erythropoietin derivative, against ischaemia–reperfusion‐induced acute kidney injury in diabetic mice.Methods:  C57BL/6J mice with and without streptozotocin‐induced diabetes were subjected to 30 min unilateral renal ischaemia–reperfusion injury at 1 week after induction of diabetes. They were divided into four group: (i) non‐diabetic plus ischaemia–reperfusion injury; (ii) non‐diabetic plus ischaemia–reperfusion injury plus asialoerythropoietin (3000 IU/kg bodyweight); (iii) diabetic plus ischaemia–reperfusion injury; and (iv) diabetic plus ischemia–reperfusion injury plus asialoerythropoietin. Experiments were conducted at the indicated time periods after ischaemia–reperfusion injury.Results:  Ischaemia–reperfusion injury of diabetic kidney resulted in significantly low protein expression levels of bcl‐2, an anti‐apoptotic molecule, and bone morphogenetic protein‐7 (BMP‐7), an anti‐fibrotic and pro‐regenerative factor, compared with non‐diabetic kidneys. Diabetic kidney subsequently showed severe damage including increased tubular cell apoptosis, tubulointerstitial fibrosis and decreased tubular proliferation, compared with non‐diabetic kidney. Treatment with asialoerythropoietin induced bcl‐2 and BMP‐7 expression in diabetic kidney and decreased tubular cell apoptosis, tubulointerstitial fibrosis and accelerated tubular proliferation.Conclusion:  Reduced induction bcl‐2 and BMP‐7 may play a role in the acceleration of renal damage after ischaemia–reperfusion injury in diabetic kidney. The renoprotective effects of asialoerythropoietin on acute kidney injury may be mediated through the induction of bcl‐2 and BMP‐7.
Changes in serum lactate dehydrogenase activity in children with atopic dermatitis
Authors: Morishima Yasuyuki , Kawashima Hisashi , Takekuma Kouji , Hoshika Akinori 
Published: June 2009

AbstractBackground:  In recent years an increase has been seen in the number of patients with severe atopic dermatitis (AD) accompanied with generalized typical eruptions. Some markers indicating the severity of the disease and symptom changes are very useful, and therefore the purpose of the present study was to investigate serum lactate dehydrogenase (LDH) as such a marker.Methods:  A total of 58 children with AD were enrolled. The severity of the disease was graded on the basis of the extent of eruptions and the severity of atopic symptoms. The fraction of serum LDH, number of eosinocytes in the peripheral blood, and serum IgE levels were also determined.Results and Conclusion:  There was a close correlation between the severity of cutaneous symptoms and serum LDH activity, and between severity and eosinocyte count, but no relationship was seen between serum IgE levels and severity of the disease. The aforementioned factors were determined in a time‐related way. As the patients' condition improved, serum LDH activity tended to decline, but there were no consistent changes in eosinocyte count in the peripheral blood or serum IgE level. On LDH isozyme the levels of LDH4 and LDH5 were high. Tissue showed high LDH activity, especially in epidermides. These results suggest that serum LDH activity is a useful marker.
Manual expression and electric breast pumping in the first 48 h after delivery
Authors: Ohyama Makiko , Watabe Harumi , Hayasaka Yumiko 
Published: June 2009

AbstractBackground:  Early feeding for preterm infants via the mother's own milk is crucial for lowering morbidity and mortality. Obtaining the mother's milk in the first few days is sometimes difficult; an effective way of mediating this problem has not yet been established. The aim of the present study was therefore to investigate whether breast pumping using a hospital‐grade electric pump was more effective in maximizing the available milk volume and more comfortable than manual expression in the first 48 h after birth.Methods:  A sequential cross‐over study was performed in a maternity ward, in a tertiary perinatal center, Japan. Eleven women whose infants were admitted to the neonatal intensive care unit were sequentially allocated to either manual or electric breast expression (Symphony) for their first expression after 6 h following birth. The women then used the other method for the next expression, and continued to alternate between methods until seven sessions had been completed for each method. The time interval between expressions was 3 h. Main outcome measures were volume of milk expressed per session and pain assessment at each expression using the Wong and Baker face‐scale.Results:  Net milk yield per woman was 2 mL manually (median; range: 0–12.6 mL) and 0.6 mL (0–7.2 mL) by electric expression (P < 0.05). The frequency of women stating no pain was higher for electric pumping than manual expression (90% vs 36%, respectively; P < 0.05).Conclusions:  In the early postpartum period, the best way to obtain colostrum is by gentle manual expression. For mothers who feel pain during manual expression, use of the stimulation phase of the Symphony pump may be preferable.
Psychometric testing of the Immigrant Barriers to Health Care Scale: Hispanic Version
Authors: Keating Stacen , Carlson Beverly , Jimenez Sophia , Estrada Jaime , Gastelum Belia , Romero Tomas , Riegel Barbara 
Published: June 2009

AbstractBarriers to care contribute to health inequities for immigrant populations. Although inadequate health insurance is a known barrier, other factors impact the issue. Few instruments exist to specifically measure these other barriers. The purpose of this study was to test the Immigrant Barriers to Health Care Scale – Hispanic Version. It was first pilot‐tested in southern California with a Mexican population. After refinement, the instrument was tested in a north‐eastern sample of diverse Hispanic adults. The data were analyzed using exploratory factor analysis. Factor loadings and communalities were used to assess the adequacy of the scale's items. Six items were deleted due to ambiguous factor loadings. The final 11 items loaded onto four factors and explained 54.58% of the variance. The coefficient alpha was 0.81 for the instrument. The Immigrant Barriers to Health Care Scale is a reliable and valid tool. Its further use and reporting with other socially and economically disadvantaged groups is advised.